subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID SC % >A oboInOwl:source MONDO:0000004 adrenocortical insufficiency MONDO:0002816 DOID:10493 DOID:3952 adrenal cortex disorder MONDO:0000062 isolated microphthalmia MONDO:0021129 DOID:0080637 DOID:10629 microphthalmia MONDO:0000133 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0006025 DOID:0090007 DOID:0050737 autosomal recessive disease MONDO:0000136 keratosis follicularis spinulosa decalvans MONDO:0018855 DOID:0080753 DOID:0080751 keratosis pilaris atrophicans MONDO:0000158 developmental dysplasia of the hip MONDO:0005497 DOID:0060930 DOID:0080006 bone development disease MONDO:0000172 muscular dystrophy-dystroglycanopathy, type B MONDO:0018276 DOID:0112375 DOID:0112374 muscular dystrophy-dystroglycanopathy MONDO:0000222 seminal vesicle acute gonorrhea MONDO:0001027 DOID:0050004 DOID:10400 gonococcal seminal vesiculitis MONDO:0000225 human monocytic ehrlichiosis MONDO:0016003 DOID:0050026 DOID:10242 ehrlichiosis MONDO:0000227 African tick-bite fever MONDO:0001195 DOID:0050035 DOID:11104 spotted fever MONDO:0000232 Flinders island spotted fever MONDO:0001195 DOID:0050047 DOID:11104 spotted fever MONDO:0000233 Japanese spotted fever MONDO:0001195 DOID:0050050 DOID:11104 spotted fever MONDO:0000234 Rickettsia parkeri spotted fever MONDO:0001195 DOID:0050051 DOID:11104 spotted fever MONDO:0000236 oropharyngeal anthrax MONDO:0001701 DOID:0050059 DOID:13386 gastrointestinal anthrax MONDO:0000239 adiaspiromycosis MONDO:0000308 DOID:0050072 DOID:0050292 primary systemic mycosis MONDO:0000241 Keshan disease MONDO:0006873 DOID:0050083 DOID:5113 nutritional deficiency disease MONDO:0000242 tinea barbae MONDO:0004678 DOID:0050096 DOID:8913 dermatophytosis MONDO:0000245 tinea imbricata MONDO:0001461 DOID:0050116 DOID:12179 tinea corporis MONDO:0000249 secretory diarrhea MONDO:0001673 DOID:0050129 DOID:13250 diarrheal disease MONDO:0000252 inflammatory diarrhea MONDO:0001673 DOID:0050132 DOID:13250 diarrheal disease MONDO:0000254 cutaneous mycosis MONDO:0002041 DOID:0050134 DOID:1564 fungal infectious disease MONDO:0000256 systemic mycosis MONDO:0002041 DOID:0050136 DOID:1564 fungal infectious disease MONDO:0000257 acute diarrhea MONDO:0001673 DOID:0050140 DOID:13250 diarrheal disease MONDO:0000259 asymptomatic dengue MONDO:0005502 DOID:0050143 DOID:12205 dengue disease MONDO:0000262 otomycosis MONDO:0004795 DOID:0050147 DOID:9463 otitis externa MONDO:0000266 pulmonary aspergilloma MONDO:0005657 DOID:0050153 DOID:13564 aspergillosis MONDO:0000270 lower respiratory tract disorder MONDO:0005087 DOID:0050161 DOID:1579 respiratory system disorder MONDO:0000271 tuberculous salpingitis MONDO:0006002 DOID:0050166 DOID:2149 urogenital tuberculosis MONDO:0000273 Kunjin virus infectous disease MONDO:0019376 DOID:0050174 DOID:2365 West-Nile encephalitis MONDO:0000282 Whitewater Arroyo hemorrhagic fever MONDO:0005108 DOID:0050199 DOID:934 viral infectious disease MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type MONDO:0005784 DOID:0050200 DOID:11266 hantavirus hemorrhagic fever with renal syndrome MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type MONDO:0005784 DOID:0050201 DOID:11266 hantavirus hemorrhagic fever with renal syndrome MONDO:0000286 Epstein-Barr virus hepatitis MONDO:0005111 DOID:0050204 DOID:2938 Epstein-Barr virus infection MONDO:0000286 Epstein-Barr virus hepatitis MONDO:0006011 DOID:0050204 DOID:1884 viral hepatitis MONDO:0000288 polycystic echinococcosis MONDO:0005154 DOID:0050218 DOID:409 liver disorder MONDO:0000288 polycystic echinococcosis MONDO:0005738 DOID:0050218 DOID:1496 echinococcosis MONDO:0000290 primary amebic meningoencephalitis MONDO:0002428 DOID:0050242 DOID:2789 protozoa infectious disease MONDO:0000295 acanthocephaliasis MONDO:0004664 DOID:0050254 DOID:883 helminthiasis MONDO:0000303 conidiobolomycosis MONDO:0000255 DOID:0050279 DOID:0050135 subcutaneous mycosis MONDO:0000307 parasitic Ichthyosporea infectious disease MONDO:0005135 DOID:0050291 DOID:1398 parasitic infectious disease MONDO:0000308 primary systemic mycosis MONDO:0000256 DOID:0050292 DOID:0050136 systemic mycosis MONDO:0000309 aniseikonia MONDO:0004892 DOID:0050304 DOID:9835 refractive error MONDO:0000310 Alkhurma hemorrhagic fever MONDO:0017881 DOID:0050308 DOID:11320 Kyasanur forest disease MONDO:0000313 hypophosphatemia MONDO:0002319 DOID:0050336 DOID:2485 phosphorus metabolism disease MONDO:0000314 primary bacterial infectious disease MONDO:0005113 DOID:0050338 DOID:104 bacterial infectious disease MONDO:0000315 commensal bacterial infectious disease MONDO:0005113 DOID:0050339 DOID:104 bacterial infectious disease MONDO:0000316 opportunistic bacterial infectious disease MONDO:0005113 DOID:0050340 DOID:104 bacterial infectious disease MONDO:0000320 glandular tularemia MONDO:0018077 DOID:0050382 DOID:2123 tularemia MONDO:0000321 typhoidal tularemia MONDO:0018077 DOID:0050383 DOID:2123 tularemia MONDO:0000327 Buruli ulcer disease MONDO:0000314 DOID:0050456 DOID:0050338 primary bacterial infectious disease MONDO:0000328 hyperphosphatemia MONDO:0002319 DOID:0050459 DOID:2485 phosphorus metabolism disease MONDO:0000330 endemic typhus MONDO:0001246 DOID:0050481 DOID:11256 typhus MONDO:0000331 Rickettsia helvetica spotted fever MONDO:0001195 DOID:0050484 DOID:11104 spotted fever MONDO:0000332 sennetsu fever MONDO:0000314 DOID:0050485 DOID:0050338 primary bacterial infectious disease MONDO:0000333 early congenital syphilis MONDO:0005714 DOID:0050488 DOID:9856 congenital syphilis MONDO:0000335 parenchymatous neurosyphilis MONDO:0004944 DOID:0050490 DOID:9988 neurosyphilis MONDO:0000336 meningovascular neurosyphilis MONDO:0004944 DOID:0050491 DOID:9988 neurosyphilis MONDO:0000337 exanthema subitum MONDO:0005108 DOID:0050495 DOID:934 viral infectious disease MONDO:0000338 variola major infectious disease MONDO:0004651 DOID:0050508 DOID:8736 smallpox MONDO:0000339 spinal polio MONDO:0000341 DOID:0050513 DOID:0050515 paralytic poliomyelitis MONDO:0000340 bulbospinal polio MONDO:0000341 DOID:0050514 DOID:0050515 paralytic poliomyelitis MONDO:0000341 paralytic poliomyelitis MONDO:0017373 DOID:0050515 DOID:4953 poliomyelitis MONDO:0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type MONDO:0005784 DOID:0050522 DOID:11266 hantavirus hemorrhagic fever with renal syndrome MONDO:0000355 Ullrich congenital muscular dystrophy MONDO:0019950 DOID:0050558 DOID:0050557 congenital muscular dystrophy MONDO:0000359 spondylocostal dysostosis MONDO:0000812 DOID:0050568 DOID:0060564 vertebral column disorder MONDO:0000359 spondylocostal dysostosis MONDO:0018234 DOID:0050568 DOID:1934 dysostosis MONDO:0000363 gummatous syphilis MONDO:0004497 DOID:0050584 DOID:8200 tertiary syphilis MONDO:0000368 extrapulmonary tuberculosis MONDO:0018076 DOID:0050598 DOID:399 tuberculosis MONDO:0000369 abdominal tuberculosis MONDO:0000368 DOID:0050599 DOID:0050598 extrapulmonary tuberculosis MONDO:0000371 oral cavity carcinoma in situ MONDO:0004647 DOID:0050610 DOID:8719 in situ carcinoma MONDO:0000372 pharynx carcinoma in situ MONDO:0004647 DOID:0050611 DOID:8719 in situ carcinoma MONDO:0000373 gall bladder carcinoma in situ MONDO:0004647 DOID:0050612 DOID:8719 in situ carcinoma MONDO:0000376 respiratory system cancer MONDO:0004992 DOID:0050615 DOID:0050686 cancer MONDO:0000376 respiratory system cancer MONDO:0005087 DOID:0050615 DOID:1579 respiratory system disorder MONDO:0000381 infiltrating renal pelvis transitional cell carcinoma MONDO:0005221 DOID:0050620 DOID:5974 renal pelvis urothelial carcinoma MONDO:0000382 respiratory system benign neoplasm MONDO:0005087 DOID:0050621 DOID:1579 respiratory system disorder MONDO:0000382 respiratory system benign neoplasm MONDO:0005165 DOID:0050621 DOID:0060085 benign neoplasm MONDO:0000383 benign reproductive system neoplasm MONDO:0005165 DOID:0050622 DOID:0060085 benign neoplasm MONDO:0000384 bladder benign neoplasm MONDO:0004180 DOID:0050623 DOID:731 benign urinary system neoplasm MONDO:0000385 benign digestive system neoplasm MONDO:0004335 DOID:0050624 DOID:77 digestive system disorder MONDO:0000385 benign digestive system neoplasm MONDO:0005165 DOID:0050624 DOID:0060085 benign neoplasm MONDO:0000387 hypochromic microcytic anemia MONDO:0001245 DOID:0050642 DOID:11252 microcytic anemia MONDO:0000389 atelosteogenesis MONDO:0005516 DOID:0050648 DOID:2256 osteochondrodysplasia MONDO:0000390 vitelliform macular dystrophy MONDO:0003004 DOID:0050661 DOID:4448 macular degeneration MONDO:0000393 partial fetal alcohol syndrome MONDO:0000408 DOID:0050666 DOID:0050696 fetal alcohol spectrum disorder MONDO:0000395 alcohol-related birth defect MONDO:0000408 DOID:0050668 DOID:0050696 fetal alcohol spectrum disorder MONDO:0000396 spastic cerebral palsy MONDO:0006497 DOID:0050669 DOID:1969 cerebral palsy MONDO:0000397 ataxic cerebral palsy MONDO:0006497 DOID:0050670 DOID:1969 cerebral palsy MONDO:0000400 mixed cerebral palsy MONDO:0006497 DOID:0050673 DOID:1969 cerebral palsy MONDO:0000407 malignant pleural solitary fibrous tumor MONDO:0006294 DOID:0050695 DOID:5158 pleural cancer MONDO:0000408 fetal alcohol spectrum disorder MONDO:0000592 DOID:0050696 DOID:0060038 specific developmental disorder MONDO:0000426 autosomal dominant disease MONDO:0000429 DOID:0050736 DOID:0050739 autosomal genetic disease MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0015760 DOID:0050743 DOID:0081312 T-cell non-Hodgkin lymphoma MONDO:0000446 midface dysplasia MONDO:0005516 DOID:0050767 DOID:2256 osteochondrodysplasia MONDO:0000447 autosomal dominant polycystic liver disease MONDO:0000426 DOID:0050770 DOID:0050736 autosomal dominant disease MONDO:0000447 autosomal dominant polycystic liver disease MONDO:0005154 DOID:0050770 DOID:409 liver disorder MONDO:0000453 short QT syndrome MONDO:0000992 DOID:0050793 DOID:10273 heart conduction disease MONDO:0000456 cerebral creatine deficiency syndrome MONDO:0004736 DOID:0050798 DOID:9252 inborn disorder of amino acid metabolism MONDO:0000457 classical glioblastoma MONDO:0018177 DOID:0050803 DOID:3068 glioblastoma MONDO:0000458 proneural glioblastoma MONDO:0018177 DOID:0050804 DOID:3068 glioblastoma MONDO:0000459 mesenchymal glioblastoma MONDO:0018177 DOID:0050805 DOID:3068 glioblastoma MONDO:0000460 neural glioblastoma MONDO:0018177 DOID:0050806 DOID:3068 glioblastoma MONDO:0000463 Ochoa syndrome MONDO:0006025 DOID:0050816 DOID:0050737 autosomal recessive disease MONDO:0000465 atrioventricular block MONDO:0000992 DOID:0050820 DOID:10273 heart conduction disease MONDO:0000466 first-degree atrioventricular block MONDO:0000465 DOID:0050821 DOID:0050820 atrioventricular block MONDO:0000467 second-degree atrioventricular block MONDO:0000465 DOID:0050822 DOID:0050820 atrioventricular block MONDO:0000468 third-degree atrioventricular block MONDO:0000465 DOID:0050823 DOID:0050820 atrioventricular block MONDO:0000469 sinoatrial node disorder MONDO:0000992 DOID:0050824 DOID:10273 heart conduction disease MONDO:0000470 endocardium disorder MONDO:0005267 DOID:0050825 DOID:114 heart disorder MONDO:0000471 tricuspid valve disorder MONDO:0002869 DOID:0050826 DOID:4079 heart valve disorder MONDO:0000473 arterial disorder MONDO:0005385 DOID:0050828 DOID:178 vascular disorder MONDO:0000477 focal dystonia MONDO:0003441 DOID:0050836 DOID:543 dystonic disorder MONDO:0000478 multifocal dystonia MONDO:0003441 DOID:0050837 DOID:543 dystonic disorder MONDO:0000479 segmental dystonia MONDO:0003441 DOID:0050838 DOID:543 dystonic disorder MONDO:0000480 anismus MONDO:0000477 DOID:0050839 DOID:0050836 focal dystonia MONDO:0000481 cervical dystonia MONDO:0000477 DOID:0050840 DOID:0050836 focal dystonia MONDO:0000482 focal hand dystonia MONDO:0000477 DOID:0050841 DOID:0050836 focal dystonia MONDO:0000483 oculogyric crisis MONDO:0000477 DOID:0050842 DOID:0050836 focal dystonia MONDO:0000485 spasmodic dystonia MONDO:0000477 DOID:0050844 DOID:0050836 focal dystonia MONDO:0000486 craniofacial dystonia MONDO:0000477 DOID:0050845 DOID:0050836 focal dystonia MONDO:0000487 hemidystonia MONDO:0000478 DOID:0050846 DOID:0050837 multifocal dystonia MONDO:0000489 diabetic encephalopathy MONDO:0005560 DOID:0050850 DOID:936 brain disorder MONDO:0000491 limb ischemia MONDO:0005053 DOID:0050852 DOID:326 ischemic disease MONDO:0000492 chronic venous insufficiency MONDO:0000945 DOID:0050853 DOID:10128 venous insufficiency MONDO:0000495 oppositional defiant disorder MONDO:0000592 DOID:0050856 DOID:0060038 specific developmental disorder MONDO:0000496 hemorrhagic cystitis MONDO:0006032 DOID:0050859 DOID:1679 cystitis MONDO:0000497 pyometritis MONDO:0002654 DOID:0050862 DOID:345 uterine disorder MONDO:0000498 arteritic anterior ischemic optic neuropathy MONDO:0006649 DOID:0050863 DOID:12010 anterior ischemic optic neuropathy MONDO:0000499 non-arteritic anterior ischemic optic neuropathy MONDO:0006649 DOID:0050864 DOID:12010 anterior ischemic optic neuropathy MONDO:0000500 tongue squamous cell carcinoma MONDO:0004631 DOID:0050865 DOID:8649 tongue cancer MONDO:0000502 villous adenoma MONDO:0004972 DOID:0050869 DOID:657 adenoma MONDO:0000503 lung adenocarcinoma in situ MONDO:0004660 DOID:0050870 DOID:8800 lung carcinoma in situ MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0002254 DOID:0050881 DOID:225 syndromic disease MONDO:0000508 syndromic intellectual disability MONDO:0001071 DOID:0050888 DOID:1059 intellectual disability MONDO:0000509 non-syndromic intellectual disability MONDO:0001071 DOID:0050889 DOID:1059 intellectual disability MONDO:0000513 bone ameloblastoma MONDO:0000631 DOID:0050895 DOID:0060094 bone benign neoplasm MONDO:0000514 bone squamous cell carcinoma MONDO:0002415 DOID:0050896 DOID:2762 bone carcinoma MONDO:0000514 bone squamous cell carcinoma MONDO:0005096 DOID:0050896 DOID:1749 squamous cell carcinoma MONDO:0000515 bone chondrosarcoma MONDO:0008977 DOID:0050897 DOID:3371 chondrosarcoma MONDO:0000516 phalanx chondroma MONDO:0000631 DOID:0050898 DOID:0060094 bone benign neoplasm MONDO:0000516 phalanx chondroma MONDO:0002360 DOID:0050898 DOID:2602 chondroma MONDO:0000517 brain stem medulloblastoma MONDO:0007959 DOID:0050899 DOID:0050902 medulloblastoma MONDO:0000518 sacrum chordoma MONDO:0002894 DOID:0050900 DOID:4153 spinal chordoma MONDO:0000519 corpus callosum oligodendroglioma MONDO:0002544 DOID:0050901 DOID:3187 brain oligodendroglioma MONDO:0000520 parietal lobe ependymal tumor MONDO:0001952 DOID:0050903 DOID:14384 parietal lobe cancer MONDO:0000521 salivary gland carcinoma MONDO:0004669 DOID:0050904 DOID:8850 salivary gland cancer MONDO:0000524 mixed extragonadal germ cell cancer MONDO:0015864 DOID:0050907 DOID:3306 mixed germ cell tumor MONDO:0000525 cecum villous adenoma MONDO:0005694 DOID:0050910 DOID:1517 cecal neoplasm MONDO:0000532 lung combined type small cell adenocarcinoma MONDO:0003438 DOID:0050917 DOID:5421 combined small cell lung carcinoma MONDO:0000534 trachea mucoepidermoid carcinoma MONDO:0003036 DOID:0050919 DOID:4531 mucoepidermoid carcinoma MONDO:0000536 pharyngeal squamous cell carcinoma MONDO:0005517 DOID:0050921 DOID:0060119 pharynx cancer MONDO:0000539 striated muscle rhabdoid tumor MONDO:0005864 DOID:0050924 DOID:4045 muscle cancer MONDO:0000541 jejunal adenocarcinoma MONDO:0006815 DOID:0050926 DOID:13499 jejunal cancer MONDO:0000549 cervical neuroblastoma MONDO:0002749 DOID:0050935 DOID:371 extracranial neuroblastoma MONDO:0000553 uterine corpus endometrial carcinoma MONDO:0006003 DOID:0050939 DOID:9460 uterine corpus cancer MONDO:0000554 endocervical adenocarcinoma MONDO:0004259 DOID:0050940 DOID:7519 endocervical carcinoma MONDO:0000563 GRID2-related autosomal dominant spinocerebellar ataxia MONDO:0020380 DOID:0050988 DOID:1441 autosomal dominant cerebellar ataxia MONDO:0000565 infective endocarditis MONDO:0005025 DOID:0060000 DOID:10314 endocarditis MONDO:0000568 autoimmune disorder of central nervous system MONDO:0002602 DOID:0060004 DOID:331 central nervous system disorder MONDO:0000568 autoimmune disorder of central nervous system MONDO:0002977 DOID:0060004 DOID:438 autoimmune disorder of the nervous system MONDO:0000569 autoimmune disorder of endocrine system MONDO:0005151 DOID:0060005 DOID:28 endocrine system disorder MONDO:0000569 autoimmune disorder of endocrine system MONDO:0007179 DOID:0060005 DOID:417 autoimmune disease MONDO:0000572 recombinase activating gene 1 deficiency MONDO:0015974 DOID:0060011 DOID:627 severe combined immunodeficiency MONDO:0000573 recombinase activating gene 2 deficiency MONDO:0015974 DOID:0060012 DOID:627 severe combined immunodeficiency MONDO:0000583 immunoglobulin beta deficiency MONDO:0002211 DOID:0060026 DOID:2115 B cell deficiency MONDO:0000586 autoimmune disorder of exocrine system MONDO:0007179 DOID:0060029 DOID:417 autoimmune disease MONDO:0000588 autoimmune disorder of gastrointestinal tract MONDO:0004335 DOID:0060031 DOID:77 digestive system disorder MONDO:0000588 autoimmune disorder of gastrointestinal tract MONDO:0007179 DOID:0060031 DOID:417 autoimmune disease MONDO:0000589 autoimmune disorder of musculoskeletal system MONDO:0002081 DOID:0060032 DOID:17 musculoskeletal system disorder MONDO:0000589 autoimmune disorder of musculoskeletal system MONDO:0007179 DOID:0060032 DOID:417 autoimmune disease MONDO:0000590 autoimmune disorder of peripheral nervous system MONDO:0002977 DOID:0060033 DOID:438 autoimmune disorder of the nervous system MONDO:0000590 autoimmune disorder of peripheral nervous system MONDO:0003620 DOID:0060033 DOID:574 peripheral nervous system disorder MONDO:0000591 intrinsic cardiomyopathy MONDO:0004994 DOID:0060036 DOID:0050700 cardiomyopathy MONDO:0000592 specific developmental disorder MONDO:0005503 DOID:0060038 DOID:0060037 developmental disorder of mental health MONDO:0000594 pervasive developmental disorder MONDO:0005503 DOID:0060040 DOID:0060037 developmental disorder of mental health MONDO:0000595 sexual and gender identity disorders MONDO:0002025 DOID:0060043 DOID:150 psychiatric disorder MONDO:0000597 Munchausen by proxy MONDO:0002103 DOID:0060045 DOID:1766 factitious disorder MONDO:0000598 aphasia MONDO:0004750 DOID:0060046 DOID:93 language disorder MONDO:0000599 writing disorder MONDO:0004681 DOID:0060047 DOID:8927 learning disability MONDO:0000600 nosophobia MONDO:0012000 DOID:0060048 DOID:599 specific phobia MONDO:0000602 autoimmune disorder of blood MONDO:0007179 DOID:0060050 DOID:417 autoimmune disease MONDO:0000603 autoimmune disorder of cardiovascular system MONDO:0004995 DOID:0060051 DOID:1287 cardiovascular disorder MONDO:0000603 autoimmune disorder of cardiovascular system MONDO:0007179 DOID:0060051 DOID:417 autoimmune disease MONDO:0000605 hypersensitivity reaction disease MONDO:0005046 DOID:0060056 DOID:2914 immune system disorder MONDO:0000610 marantic endocarditis MONDO:0005025 DOID:0060068 DOID:10314 endocarditis MONDO:0000611 pre-malignant neoplasm MONDO:0005070 DOID:0060071 DOID:14566 neoplasm MONDO:0000612 lymphatic system cancer MONDO:0000621 DOID:0060073 DOID:0060083 immune system cancer MONDO:0000612 lymphatic system cancer MONDO:0005833 DOID:0060073 DOID:75 lymphatic system disorder MONDO:0000620 breast benign neoplasm MONDO:0000634 DOID:0060082 DOID:0060097 thoracic benign neoplasm MONDO:0000621 immune system cancer MONDO:0004992 DOID:0060083 DOID:0050686 cancer MONDO:0000621 immune system cancer MONDO:0005046 DOID:0060083 DOID:2914 immune system disorder MONDO:0000624 benign female reproductive system neoplasm MONDO:0000383 DOID:0060086 DOID:0050622 benign reproductive system neoplasm MONDO:0000625 benign male reproductive system neoplasm MONDO:0000383 DOID:0060087 DOID:0050622 benign reproductive system neoplasm MONDO:0000625 benign male reproductive system neoplasm MONDO:0003150 DOID:0060087 DOID:48 male reproductive system disorder MONDO:0000627 benign endocrine neoplasm MONDO:0005165 DOID:0060089 DOID:0060085 benign neoplasm MONDO:0000628 central nervous system organ benign neoplasm MONDO:0000648 DOID:0060090 DOID:0060115 nervous system benign neoplasm MONDO:0000629 cardiovascular organ benign neoplasm MONDO:0005165 DOID:0060091 DOID:0060085 benign neoplasm MONDO:0000630 immune system organ benign neoplasm MONDO:0005165 DOID:0060092 DOID:0060085 benign neoplasm MONDO:0000631 bone benign neoplasm MONDO:0000654 DOID:0060094 DOID:0060123 benign connective and soft tissue neoplasm MONDO:0000632 uterine benign neoplasm MONDO:0000624 DOID:0060095 DOID:0060086 benign female reproductive system neoplasm MONDO:0000633 sensory organ benign neoplasm MONDO:0000648 DOID:0060096 DOID:0060115 nervous system benign neoplasm MONDO:0000634 thoracic benign neoplasm MONDO:0005165 DOID:0060097 DOID:0060085 benign neoplasm MONDO:0000636 musculoskeletal system benign neoplasm MONDO:0002081 DOID:0060099 DOID:17 musculoskeletal system disorder MONDO:0000636 musculoskeletal system benign neoplasm MONDO:0005165 DOID:0060099 DOID:0060085 benign neoplasm MONDO:0000637 musculoskeletal system cancer MONDO:0002081 DOID:0060100 DOID:17 musculoskeletal system disorder MONDO:0000637 musculoskeletal system cancer MONDO:0004992 DOID:0060100 DOID:0050686 cancer MONDO:0000643 vulvar benign neoplasm MONDO:0000624 DOID:0060109 DOID:0060086 benign female reproductive system neoplasm MONDO:0000644 cervical benign neoplasm MONDO:0000632 DOID:0060110 DOID:0060095 uterine benign neoplasm MONDO:0000645 fallopian tube benign neoplasm MONDO:0000624 DOID:0060111 DOID:0060086 benign female reproductive system neoplasm MONDO:0000646 ovarian benign neoplasm MONDO:0000624 DOID:0060112 DOID:0060086 benign female reproductive system neoplasm MONDO:0000647 benign vaginal neoplasm MONDO:0000624 DOID:0060114 DOID:0060086 benign female reproductive system neoplasm MONDO:0000648 nervous system benign neoplasm MONDO:0005165 DOID:0060115 DOID:0060085 benign neoplasm MONDO:0000649 sensory system cancer MONDO:0005872 DOID:0060116 DOID:3093 nervous system cancer MONDO:0000652 integumentary system benign neoplasm MONDO:0002051 DOID:0060121 DOID:16 integumentary system disorder MONDO:0000652 integumentary system benign neoplasm MONDO:0005165 DOID:0060121 DOID:0060085 benign neoplasm MONDO:0000653 integumentary system cancer MONDO:0002051 DOID:0060122 DOID:16 integumentary system disorder MONDO:0000653 integumentary system cancer MONDO:0004992 DOID:0060122 DOID:0050686 cancer MONDO:0000654 benign connective and soft tissue neoplasm MONDO:0000636 DOID:0060123 DOID:0060099 musculoskeletal system benign neoplasm MONDO:0000654 benign connective and soft tissue neoplasm MONDO:0003900 DOID:0060123 DOID:65 connective tissue disorder MONDO:0000659 delta-heavy chain disease MONDO:0019464 DOID:0060129 DOID:0060125 heavy chain disease MONDO:0000660 akinetopsia MONDO:0005638 DOID:0060130 DOID:4090 agnosia MONDO:0000661 alexithymia MONDO:0005638 DOID:0060131 DOID:4090 agnosia MONDO:0000662 amusia MONDO:0005638 DOID:0060132 DOID:4090 agnosia MONDO:0000663 anosognosia MONDO:0005638 DOID:0060133 DOID:4090 agnosia MONDO:0000667 auditory agnosia MONDO:0005638 DOID:0060137 DOID:4090 agnosia MONDO:0000668 autotopagnosia MONDO:0005638 DOID:0060138 DOID:4090 agnosia MONDO:0000671 finger agnosia MONDO:0005638 DOID:0060141 DOID:4090 agnosia MONDO:0000673 integrative agnosia MONDO:0005638 DOID:0060143 DOID:4090 agnosia MONDO:0000674 mirror agnosia MONDO:0005638 DOID:0060144 DOID:4090 agnosia MONDO:0000675 pain agnosia MONDO:0005638 DOID:0060145 DOID:4090 agnosia MONDO:0000676 phonagnosia MONDO:0005638 DOID:0060146 DOID:4090 agnosia MONDO:0000677 semantic agnosia MONDO:0005638 DOID:0060147 DOID:4090 agnosia MONDO:0000678 simultanagnosia MONDO:0005638 DOID:0060148 DOID:4090 agnosia MONDO:0000679 social emotional agnosia MONDO:0005638 DOID:0060149 DOID:4090 agnosia MONDO:0000680 astereognosia MONDO:0005638 DOID:0060150 DOID:4090 agnosia MONDO:0000681 tactile agnosia MONDO:0005638 DOID:0060151 DOID:4090 agnosia MONDO:0000682 time agnosia MONDO:0005638 DOID:0060152 DOID:4090 agnosia MONDO:0000683 topographical agnosia MONDO:0000685 DOID:0060153 DOID:0060155 visual agnosia MONDO:0000685 visual agnosia MONDO:0005638 DOID:0060155 DOID:4090 agnosia MONDO:0000686 alexia without agraphia MONDO:0000685 DOID:0060156 DOID:0060155 visual agnosia MONDO:0000687 diffuse alopecia areata MONDO:0005340 DOID:0060157 DOID:986 alopecia areata MONDO:0000688 inborn organic aciduria MONDO:0004736 DOID:0060159 DOID:9252 inborn disorder of amino acid metabolism MONDO:0000690 body dysmorphic disorder MONDO:0003117 DOID:0060163 DOID:4737 somatoform disorder MONDO:0000693 bipolar II disorder MONDO:0004985 DOID:0060166 DOID:3312 bipolar disorder MONDO:0000694 seasonal affective disorder MONDO:0002050 DOID:0060167 DOID:1596 depressive disorder MONDO:0000698 gamma-amino butyric acid metabolism disorder MONDO:0004736 DOID:0060176 DOID:9252 inborn disorder of amino acid metabolism MONDO:0000701 ischemic colitis MONDO:0005292 DOID:0060181 DOID:0060180 colitis MONDO:0000702 microscopic colitis MONDO:0005292 DOID:0060182 DOID:0060180 colitis MONDO:0000703 collagenous colitis MONDO:0000702 DOID:0060183 DOID:0060182 microscopic colitis MONDO:0000704 lymphocytic colitis MONDO:0000702 DOID:0060184 DOID:0060182 microscopic colitis MONDO:0000706 chemical colitis MONDO:0005292 DOID:0060186 DOID:0060180 colitis MONDO:0000707 diversion colitis MONDO:0005292 DOID:0060187 DOID:0060180 colitis MONDO:0000716 agraphia MONDO:0000599 DOID:0060223 DOID:0060047 writing disorder MONDO:0000724 specific language impairment MONDO:0004750 DOID:0060244 DOID:93 language disorder MONDO:0000726 idiopathic scoliosis MONDO:0005392 DOID:0060250 DOID:0060249 scoliosis MONDO:0000728 ptosis MONDO:0005328 DOID:0060260 DOID:5614 eye disorder MONDO:0000733 cornea plana MONDO:0000942 DOID:0060287 DOID:10124 corneal disorder MONDO:0000739 uvulitis MONDO:0004867 DOID:0060310 DOID:974 upper respiratory tract disorder MONDO:0000740 adenoid hypertrophy MONDO:0004867 DOID:0060311 DOID:974 upper respiratory tract disorder MONDO:0000741 angular cheilitis MONDO:0002102 DOID:0060312 DOID:1762 cheilitis MONDO:0000743 oral hairy leukoplakia MONDO:0006858 DOID:0060315 DOID:403 mouth disorder MONDO:0000744 lung abscess MONDO:0005275 DOID:0060317 DOID:850 lung disorder MONDO:0000748 mastoiditis MONDO:0002614 DOID:0060322 DOID:3342 bone inflammation disease MONDO:0000749 breast abscess MONDO:0002657 DOID:0060323 DOID:3463 breast disorder MONDO:0000750 dental abscess MONDO:0006999 DOID:0060324 DOID:1091 tooth disorder MONDO:0000751 cervical polyp MONDO:0002256 DOID:0060325 DOID:2253 cervix disorder MONDO:0000754 anal fistula MONDO:0001593 DOID:0060328 DOID:1285 rectal disorder MONDO:0000755 ectopic pregnancy MONDO:0002263 DOID:0060329 DOID:229 female reproductive system disorder MONDO:0000756 parameningeal embryonal rhabdomyosarcoma MONDO:0009993 DOID:0060338 DOID:3246 embryonal rhabdomyosarcoma MONDO:0000758 bacillary angiomatosis MONDO:0005664 DOID:0060345 DOID:11102 bartonellosis MONDO:0000761 syndrome caused by partial chromosomal deletion MONDO:0019040 DOID:0060388 DOID:0080014 chromosomal disorder MONDO:0000762 syndrome caused by partial chromosomal duplication MONDO:0019040 DOID:0060429 DOID:0080014 chromosomal disorder MONDO:0000763 epithelial and subepithelial corneal dystrophy MONDO:0018102 DOID:0060440 DOID:2566 corneal dystrophy MONDO:0000764 epithelial-stromal TGFBI dystrophy MONDO:0018102 DOID:0060441 DOID:2566 corneal dystrophy MONDO:0000766 corneal endothelial dystrophy MONDO:0018102 DOID:0060443 DOID:2566 corneal dystrophy MONDO:0000771 allergic respiratory disease MONDO:0005271 DOID:0060496 DOID:1205 allergic disease MONDO:0000774 autoimmune neuropathy MONDO:0000590 DOID:0040087 DOID:0060033 autoimmune disorder of peripheral nervous system MONDO:0000775 drug allergy MONDO:0005271 DOID:0060500 DOID:1205 allergic disease MONDO:0000777 gastrointestinal allergy MONDO:0005271 DOID:0060502 DOID:1205 allergic disease MONDO:0000807 latex allergy MONDO:0005271 DOID:0060532 DOID:1205 allergic disease MONDO:0000809 purpura fulminans MONDO:0002610 DOID:0060538 DOID:3326 purpura MONDO:0000811 anomalous left coronary artery from the pulmonary artery MONDO:0001389 DOID:0060562 DOID:11843 congenital coronary artery anomaly MONDO:0000813 cardiac tuberculosis MONDO:0005267 DOID:0060570 DOID:114 heart disorder MONDO:0000814 B-cell adult acute lymphocytic leukemia MONDO:0003541 DOID:0060592 DOID:5604 adult acute lymphoblastic leukemia MONDO:0000815 fetal nicotine spectrum disorder MONDO:0000592 DOID:0060606 DOID:0060038 specific developmental disorder MONDO:0000816 abdominal obesity-metabolic syndrome MONDO:0002254 DOID:0060611 DOID:225 syndromic disease MONDO:0000819 anencephaly MONDO:0002320 DOID:0060668 DOID:2490 congenital nervous system disorder MONDO:0000824 congenital diarrhea MONDO:0001673 DOID:0060774 DOID:13250 diarrheal disease MONDO:0000827 salmonellosis MONDO:0000314 DOID:0060859 DOID:0050338 primary bacterial infectious disease MONDO:0000828 juvenile-onset Parkinson disease MONDO:0017279 DOID:0060893 DOID:0060894 young-onset Parkinson disease MONDO:0000831 thrombotic disease MONDO:0005385 DOID:0060903 DOID:178 vascular disorder MONDO:0000833 bone remodeling disease MONDO:0005381 DOID:0080005 DOID:0080001 bone disorder MONDO:0000836 disease of bone structure MONDO:0005381 DOID:0080010 DOID:0080001 bone disorder MONDO:0000837 bone resorption disease MONDO:0000833 DOID:0080011 DOID:0080005 bone remodeling disease MONDO:0000845 fibrous dysplasia MONDO:0000833 DOID:0080031 DOID:0080005 bone remodeling disease MONDO:0000849 fibrogenesis imperfecta ossium MONDO:0002254 DOID:0080040 DOID:225 syndromic disease MONDO:0000858 neuronal intestinal dysplasia MONDO:0003409 DOID:0080072 DOID:5353 colonic disorder MONDO:0000859 spina bifida occulta MONDO:0008449 DOID:0080073 DOID:0080016 spina bifida MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0009637 DOID:0080099 DOID:699 inborn mitochondrial myopathy MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004355 DOID:0080144 DOID:7757 childhood leukemia MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004967 DOID:0080144 DOID:9952 acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0000870 DOID:0080145 DOID:0080144 childhood acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0004963 DOID:0080145 DOID:5603 T-cell acute lymphoblastic leukemia MONDO:0000872 B-cell childhood acute lymphoblastic leukemia MONDO:0000870 DOID:0080146 DOID:0080144 childhood acute lymphoblastic leukemia MONDO:0000874 T-cell childhood lymphoblastic lymphoma MONDO:0000873 DOID:0080148 DOID:0080147 lymphoblastic lymphoma MONDO:0000875 adult acute monocytic leukemia MONDO:0007896 DOID:0080149 DOID:8864 acute monocytic leukemia MONDO:0000878 cytomegalovirus retinitis MONDO:0002708 DOID:0080160 DOID:3612 retinitis MONDO:0000879 cutaneous candidiasis MONDO:0002026 DOID:0080161 DOID:1508 candidiasis MONDO:0000888 gastrointestinal mucositis MONDO:0004335 DOID:0080178 DOID:77 digestive system disorder MONDO:0000889 haemophilus meningitis MONDO:0006670 DOID:0080179 DOID:9470 bacterial meningitis MONDO:0000891 mixed fibrolamellar hepatocellular carcinoma MONDO:0006210 DOID:0080182 DOID:5015 fibrolamellar hepatocellular carcinoma MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma MONDO:0004991 DOID:0080184 DOID:4926 minimally invasive lung adenocarcinoma MONDO:0000894 mucinous bronchioloalveolar adenocarcinoma MONDO:0004991 DOID:0080185 DOID:4926 minimally invasive lung adenocarcinoma MONDO:0000895 nonmucinous bronchioloalveolar adenocarcinoma MONDO:0004991 DOID:0080186 DOID:4926 minimally invasive lung adenocarcinoma MONDO:0000901 relapsed/refractory diffuse large B-cell lymphoma MONDO:0018905 DOID:0080192 DOID:0050745 diffuse large B-cell lymphoma MONDO:0000904 complex cortical dysplasia with other brain malformations MONDO:0005560 DOID:0090131 DOID:936 brain disorder MONDO:0000910 retinitis pigmentosa 6 MONDO:0019200 DOID:0110413 DOID:10584 retinitis pigmentosa MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 MONDO:0019588 DOID:0110507 DOID:0050565 hearing loss, autosomal recessive MONDO:0000913 hereditary spherocytosis type 2 MONDO:0019350 DOID:0110917 DOID:12971 hereditary spherocytosis MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0007432 DOID:0111035 DOID:13945 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:0000918 endometritis MONDO:0000931 DOID:1002 DOID:1005 endometrial disorder MONDO:0000919 ampulla of vater cancer MONDO:0000920 DOID:10020 DOID:10021 duodenum cancer MONDO:0000920 duodenum cancer MONDO:0000956 DOID:10021 DOID:10154 small intestine cancer MONDO:0000922 pelvic inflammatory disease MONDO:0002263 DOID:1003 DOID:229 female reproductive system disorder MONDO:0000923 interstitial emphysema MONDO:0004849 DOID:10030 DOID:9675 pulmonary emphysema MONDO:0000924 compensatory emphysema MONDO:0004849 DOID:10031 DOID:9675 pulmonary emphysema MONDO:0000926 eye accommodation disease MONDO:0005328 DOID:10034 DOID:5614 eye disorder MONDO:0000927 asymptomatic neurosyphilis MONDO:0004944 DOID:10035 DOID:9988 neurosyphilis MONDO:0000928 eyelid melanoma MONDO:0005012 DOID:10040 DOID:8923 cutaneous melanoma MONDO:0000929 balloon cell malignant melanoma MONDO:0005012 DOID:10044 DOID:8923 cutaneous melanoma MONDO:0000930 nodular malignant melanoma MONDO:0005012 DOID:10047 DOID:8923 cutaneous melanoma MONDO:0000931 endometrial disorder MONDO:0002654 DOID:1005 DOID:345 uterine disorder MONDO:0000934 laryngeal leiomyoma MONDO:0001572 DOID:10070 DOID:127 leiomyoma MONDO:0000934 laryngeal leiomyoma MONDO:0002354 DOID:10070 DOID:2598 benign laryngeal neoplasm MONDO:0000935 larynx squamous papilloma MONDO:0002354 DOID:10071 DOID:2598 benign laryngeal neoplasm MONDO:0000940 trypanosomiasis MONDO:0002428 DOID:10113 DOID:2789 protozoa infectious disease MONDO:0000942 corneal disorder MONDO:0005328 DOID:10124 DOID:5614 eye disorder MONDO:0000943 acute hydrops keratoconus MONDO:0015486 DOID:10125 DOID:10126 keratoconus MONDO:0000945 venous insufficiency MONDO:0004634 DOID:10128 DOID:866 vein disorder MONDO:0000946 psychologic vaginismus MONDO:0000947 DOID:10131 DOID:10132 psychosexual disorder MONDO:0000947 psychosexual disorder MONDO:0000595 DOID:10132 DOID:0060043 sexual and gender identity disorders MONDO:0000948 xerophthalmia MONDO:0006733 DOID:10138 DOID:10140 dry eye syndrome MONDO:0000949 conjunctival degeneration MONDO:0006170 DOID:10139 DOID:4251 conjunctival disorder MONDO:0000951 thymus lymphoma MONDO:0002586 DOID:10146 DOID:3277 thymus cancer MONDO:0000954 Meckel diverticulum cancer MONDO:0000955 DOID:10152 DOID:10153 ileum cancer MONDO:0000955 ileum cancer MONDO:0000956 DOID:10153 DOID:10154 small intestine cancer MONDO:0000956 small intestine cancer MONDO:0005814 DOID:10154 DOID:10155 intestinal cancer MONDO:0000957 lacrimal passage granuloma MONDO:0001854 DOID:10174 DOID:1400 lacrimal apparatus disorder MONDO:0000960 diabetic peripheral angiopathy MONDO:0005294 DOID:11713 DOID:341 peripheral vascular disease MONDO:0000961 endobronchial lipoma MONDO:0002807 DOID:10183 DOID:3906 bronchial neoplasm MONDO:0000961 endobronchial lipoma MONDO:0005106 DOID:10183 DOID:3315 lipoma MONDO:0000962 spindle cell lipoma MONDO:0005106 DOID:10184 DOID:3315 lipoma MONDO:0000963 esophageal lipoma MONDO:0005106 DOID:10187 DOID:3315 lipoma MONDO:0000964 skin lipoma MONDO:0005106 DOID:10188 DOID:3315 lipoma MONDO:0000965 liver lipoma MONDO:0005106 DOID:10190 DOID:3315 lipoma MONDO:0000965 liver lipoma MONDO:0024477 DOID:10190 DOID:916 liver and intrahepatic bile duct neoplasm MONDO:0000966 pleomorphic lipoma MONDO:0005106 DOID:10192 DOID:3315 lipoma MONDO:0000967 conventional lipoma MONDO:0005106 DOID:10193 DOID:3315 lipoma MONDO:0000968 kidney lipoma MONDO:0002513 DOID:10194 DOID:3116 kidney benign neoplasm MONDO:0000968 kidney lipoma MONDO:0005106 DOID:10194 DOID:3315 lipoma MONDO:0000969 pleural lipoma MONDO:0005106 DOID:10195 DOID:3315 lipoma MONDO:0000970 breast lipoma MONDO:0000620 DOID:10199 DOID:0060082 breast benign neoplasm MONDO:0000970 breast lipoma MONDO:0005106 DOID:10199 DOID:3315 lipoma MONDO:0000971 chest wall lipoma MONDO:0005106 DOID:10200 DOID:3315 lipoma MONDO:0000972 gallbladder lipoma MONDO:0005106 DOID:10201 DOID:3315 lipoma MONDO:0000972 gallbladder lipoma MONDO:0021503 DOID:10201 DOID:0080640 benign neoplasm of gallbladder MONDO:0000973 external ear lipoma MONDO:0005106 DOID:10203 DOID:3315 lipoma MONDO:0000974 axillary lipoma MONDO:0005106 DOID:10205 DOID:3315 lipoma MONDO:0000975 lipoma of spermatic cord MONDO:0000625 DOID:10206 DOID:0060087 benign male reproductive system neoplasm MONDO:0000975 lipoma of spermatic cord MONDO:0000976 DOID:10206 DOID:10207 paratesticular lipoma MONDO:0000976 paratesticular lipoma MONDO:0000383 DOID:10207 DOID:0050622 benign reproductive system neoplasm MONDO:0000976 paratesticular lipoma MONDO:0005106 DOID:10207 DOID:3315 lipoma MONDO:0000977 chondroid lipoma MONDO:0005106 DOID:10208 DOID:3315 lipoma MONDO:0000979 pinta disease MONDO:0000314 DOID:1022 DOID:0050338 primary bacterial infectious disease MONDO:0000980 aortic atherosclerosis MONDO:0005311 DOID:10230 DOID:1936 atherosclerosis MONDO:0000981 Histoplasma pericarditis MONDO:0005904 DOID:10234 DOID:1787 pericarditis MONDO:0000983 exhibitionism MONDO:0000596 DOID:10236 DOID:0060044 paraphilic disorder MONDO:0000986 pleurisy MONDO:0002037 DOID:10247 DOID:1532 pleural disorder MONDO:0000987 cholesterolosis of gallbladder MONDO:0005281 DOID:10254 DOID:0060262 gallbladder disorder MONDO:0000988 discharging ear MONDO:0002409 DOID:10261 DOID:2742 auditory system disorder MONDO:0000990 acute subendocardial myocardial infarction MONDO:0004781 DOID:10266 DOID:9408 acute myocardial infarction MONDO:0000992 heart conduction disease MONDO:0005267 DOID:10273 DOID:114 heart disorder MONDO:0000993 prostate squamous cell carcinoma MONDO:0005096 DOID:10287 DOID:1749 squamous cell carcinoma MONDO:0000993 prostate squamous cell carcinoma MONDO:0005159 DOID:10287 DOID:10286 prostate carcinoma MONDO:0000994 malignant prostate phyllodes tumor MONDO:0008315 DOID:10289 DOID:10283 prostate cancer MONDO:0000995 familial periodic paralysis MONDO:0004689 DOID:1029 DOID:896 inborn metal metabolism disorder MONDO:0000996 prostate lymphoma MONDO:0005062 DOID:10290 DOID:0060058 lymphoma MONDO:0000996 prostate lymphoma MONDO:0008315 DOID:10290 DOID:10283 prostate cancer MONDO:0000997 monocular esotropia MONDO:0004896 DOID:10293 DOID:9840 esotropia MONDO:0001000 mixed mineral dust pneumoconiosis MONDO:0015926 DOID:10319 DOID:10316 pneumoconiosis MONDO:0001001 baritosis MONDO:0015926 DOID:10321 DOID:10316 pneumoconiosis MONDO:0001003 pneumoconiosis due to talc MONDO:0015926 DOID:10329 DOID:10316 pneumoconiosis MONDO:0001004 slate pneumoconiosis MONDO:0015926 DOID:10330 DOID:10316 pneumoconiosis MONDO:0001006 glaucomatous atrophy of optic disk MONDO:0003608 DOID:10337 DOID:5723 optic atrophy MONDO:0001008 blepharophimosis MONDO:0003382 DOID:10348 DOID:530 eyelid disorder MONDO:0001009 solitary cyst of breast MONDO:0001011 DOID:10349 DOID:10350 breast cyst MONDO:0001011 breast cyst MONDO:0000620 DOID:10350 DOID:0060082 breast benign neoplasm MONDO:0001014 chronic leukemia MONDO:0005059 DOID:1036 DOID:1240 leukemia MONDO:0001015 eosinophilic meningitis MONDO:0001007 DOID:10361 DOID:10341 chronic meningitis MONDO:0001016 epididymis cancer MONDO:0005836 DOID:10366 DOID:3856 male reproductive organ cancer MONDO:0001017 epididymal adenocarcinoma MONDO:0001016 DOID:10368 DOID:10366 epididymis cancer MONDO:0001017 epididymal adenocarcinoma MONDO:0004970 DOID:10368 DOID:299 adenocarcinoma MONDO:0001019 suppression amblyopia MONDO:0001020 DOID:10375 DOID:10376 amblyopia MONDO:0001021 ametropic amblyopia MONDO:0001020 DOID:10377 DOID:10376 amblyopia MONDO:0001022 disuse amblyopia MONDO:0001020 DOID:10378 DOID:10376 amblyopia MONDO:0001024 pneumonic plague MONDO:0005275 DOID:10398 DOID:850 lung disorder MONDO:0001024 pneumonic plague MONDO:0019095 DOID:10398 DOID:3482 plague MONDO:0001025 seminal vesicle chronic gonorrhea MONDO:0001027 DOID:10399 DOID:10400 gonococcal seminal vesiculitis MONDO:0001027 gonococcal seminal vesiculitis MONDO:0004277 DOID:10400 DOID:7551 gonorrhea MONDO:0001027 gonococcal seminal vesiculitis MONDO:0004767 DOID:10400 DOID:9365 vesiculitis MONDO:0001028 acute pericementitis MONDO:0005076 DOID:10423 DOID:824 periodontitis MONDO:0001030 keratoconus, stable condition MONDO:0015486 DOID:10428 DOID:10126 keratoconus MONDO:0001031 purulent acute otitis media MONDO:0005975 DOID:10435 DOID:11506 suppurative otitis media MONDO:0001032 Mooren ulcer MONDO:0004577 DOID:10439 DOID:8463 corneal ulcer MONDO:0001033 mycotic corneal ulcer MONDO:0004577 DOID:10440 DOID:8463 corneal ulcer MONDO:0001034 marginal corneal ulcer MONDO:0004577 DOID:10441 DOID:8463 corneal ulcer MONDO:0001035 hypopyon ulcer MONDO:0001036 DOID:10442 DOID:10443 hypopyon MONDO:0001037 ring corneal ulcer MONDO:0004577 DOID:10444 DOID:8463 corneal ulcer MONDO:0001038 perforated corneal ulcer MONDO:0004577 DOID:10445 DOID:8463 corneal ulcer MONDO:0001039 tonsillitis MONDO:0004867 DOID:10456 DOID:974 upper respiratory tract disorder MONDO:0001040 nasopharyngitis MONDO:0004821 DOID:10460 DOID:9561 nasopharyngeal disorder MONDO:0001041 dentin caries MONDO:0005276 DOID:10461 DOID:216 dental caries MONDO:0001042 patellar tendinitis MONDO:0004857 DOID:10471 DOID:971 tendinitis MONDO:0001044 esophageal atresia MONDO:0003749 DOID:10485 DOID:6050 esophageal disorder MONDO:0001045 intestinal atresia MONDO:0005020 DOID:10486 DOID:5295 intestinal disorder MONDO:0001046 imperforate anus MONDO:0002519 DOID:10488 DOID:3128 anus disorder MONDO:0001048 orbital granuloma MONDO:0001849 DOID:10499 DOID:1397 chronic orbital inflammation MONDO:0001049 Dressler syndrome MONDO:0005904 DOID:10507 DOID:1787 pericarditis MONDO:0001050 malignant otitis externa MONDO:0004795 DOID:10516 DOID:9463 otitis externa MONDO:0001051 acute otitis externa MONDO:0004795 DOID:10518 DOID:9463 otitis externa MONDO:0001052 chronic fungal otitis externa MONDO:0000262 DOID:10519 DOID:0050147 otomycosis MONDO:0001054 double pterygium MONDO:0005085 DOID:10525 DOID:0002116 pterygium MONDO:0001055 conjunctival pterygium MONDO:0005085 DOID:10526 DOID:0002116 pterygium MONDO:0001056 gastric cancer MONDO:0002516 DOID:10534 DOID:3119 digestive system cancer MONDO:0001057 malignant gastric granular cell tumor MONDO:0001056 DOID:10536 DOID:10534 gastric cancer MONDO:0001059 gastric lymphoma MONDO:0001056 DOID:10540 DOID:10534 gastric cancer MONDO:0001060 microinvasive gastric cancer MONDO:0005036 DOID:10541 DOID:3717 gastric adenocarcinoma MONDO:0001061 pylorus cancer MONDO:0001056 DOID:10544 DOID:10534 gastric cancer MONDO:0001062 pyloric antrum cancer MONDO:0001061 DOID:10547 DOID:10544 pylorus cancer MONDO:0001063 cardia cancer MONDO:0001056 DOID:10548 DOID:10534 gastric cancer MONDO:0001064 acute eustachian salpingitis MONDO:0002172 DOID:10550 DOID:2000 otosalpingitis MONDO:0001066 late yaws MONDO:0006019 DOID:10567 DOID:10371 yaws MONDO:0001067 early yaws MONDO:0006019 DOID:10568 DOID:10371 yaws MONDO:0001068 osteomalacia MONDO:0000833 DOID:10573 DOID:0080005 bone remodeling disease MONDO:0001072 mild pre-eclampsia MONDO:0005081 DOID:10590 DOID:10591 preeclampsia MONDO:0001073 idiopathic progressive polyneuropathy MONDO:0001824 DOID:10593 DOID:1389 polyneuropathy MONDO:0001074 chronic tic disorder MONDO:0002420 DOID:10600 DOID:2769 tic disorder MONDO:0001079 pancreatic steatorrhea MONDO:0002356 DOID:10610 DOID:26 pancreas disorder MONDO:0001080 acute gonococcal cervicitis MONDO:0001081 DOID:10615 DOID:10616 acute cervicitis MONDO:0001081 acute cervicitis MONDO:0002345 DOID:10616 DOID:2568 cervicitis MONDO:0001082 lymph node cancer MONDO:0000612 DOID:10619 DOID:0060073 lymphatic system cancer MONDO:0001083 Fanconi renotubular syndrome MONDO:0006510 DOID:1062 DOID:447 renal tubular transport disease MONDO:0001084 primary optic atrophy MONDO:0003608 DOID:10627 DOID:5723 optic atrophy MONDO:0001085 interstitial nephritis MONDO:0001166 DOID:1063 DOID:10952 nephritis MONDO:0001086 partial optic atrophy MONDO:0003608 DOID:10631 DOID:5723 optic atrophy MONDO:0001087 schizotypal personality disorder MONDO:0002028 DOID:10646 DOID:1510 personality disorder MONDO:0001088 acute inferoposterior infarction MONDO:0004781 DOID:10648 DOID:9408 acute myocardial infarction MONDO:0001089 acute inferolateral myocardial infarction MONDO:0004781 DOID:10649 DOID:9408 acute myocardial infarction MONDO:0001090 acute anterolateral myocardial infarction MONDO:0004781 DOID:10651 DOID:9408 acute myocardial infarction MONDO:0001091 lipoma of colon MONDO:0003885 DOID:10655 DOID:6460 colorectal lipoma MONDO:0001093 colonic lymphangioma MONDO:0002278 DOID:10657 DOID:235 benign colon neoplasm MONDO:0001094 residual stage of open angle glaucoma MONDO:0005338 DOID:1066 DOID:1067 open-angle glaucoma MONDO:0001095 mediastinum neuroblastoma MONDO:0003098 DOID:10660 DOID:4691 mediastinal neural neoplasm MONDO:0001098 separation anxiety disorder MONDO:0005618 DOID:10685 DOID:2030 anxiety disorder MONDO:0001099 lactocele MONDO:0001011 DOID:10686 DOID:10350 breast cyst MONDO:0001100 hypertrophy of breast MONDO:0002657 DOID:10688 DOID:3463 breast disorder MONDO:0001101 fat necrosis of breast MONDO:0002657 DOID:10691 DOID:3463 breast disorder MONDO:0001103 giardiasis MONDO:0002428 DOID:10718 DOID:2789 protozoa infectious disease MONDO:0001104 toxic diffuse goiter MONDO:0004425 DOID:10719 DOID:7998 hyperthyroidism MONDO:0001105 renal hypertension MONDO:0001200 DOID:1073 DOID:11130 secondary hypertension MONDO:0001105 renal hypertension MONDO:0005240 DOID:1073 DOID:557 kidney disorder MONDO:0001106 kidney failure MONDO:0005240 DOID:1074 DOID:557 kidney disorder MONDO:0001108 broad ligament malignant neoplasm MONDO:0001351 DOID:10744 DOID:11747 uterine adnexa cancer MONDO:0001109 petrositis MONDO:0005246 DOID:10755 DOID:1019 osteomyelitis MONDO:0001110 chronic pyelonephritis MONDO:0006939 DOID:1076 DOID:11400 pyelonephritis MONDO:0001112 bubonic plague MONDO:0019095 DOID:10773 DOID:3482 plague MONDO:0001115 familial polycythemia MONDO:0005571 DOID:10780 DOID:8432 polycythemia MONDO:0001116 mesenteric lymphadenitis MONDO:0002052 DOID:10782 DOID:1602 lymphadenitis MONDO:0001118 Queensland tick typhus MONDO:0001195 DOID:10784 DOID:11104 spotted fever MONDO:0001120 chronic frontal sinusitis MONDO:0001121 DOID:10790 DOID:10791 frontal sinusitis MONDO:0001121 frontal sinusitis MONDO:0005961 DOID:10791 DOID:0050127 sinusitis MONDO:0001122 chronic maxillary sinusitis MONDO:0005842 DOID:10792 DOID:2051 maxillary sinusitis MONDO:0001123 chronic sphenoidal sinusitis MONDO:0005964 DOID:10793 DOID:10794 sphenoid sinusitis MONDO:0001126 gastric ulcer MONDO:0004247 DOID:10808 DOID:750 peptic ulcer disease MONDO:0001127 tibialis tendinitis MONDO:0004857 DOID:10810 DOID:971 tendinitis MONDO:0001128 nasal cavity cancer MONDO:0000376 DOID:10811 DOID:0050615 respiratory system cancer MONDO:0001129 nasal cavity olfactory neuroblastoma MONDO:0001128 DOID:10812 DOID:10811 nasal cavity cancer MONDO:0001129 nasal cavity olfactory neuroblastoma MONDO:0006329 DOID:10812 DOID:369 olfactory neuroblastoma MONDO:0001130 nasal cavity lymphoma MONDO:0001128 DOID:10813 DOID:10811 nasal cavity cancer MONDO:0001130 nasal cavity lymphoma MONDO:0005062 DOID:10813 DOID:0060058 lymphoma MONDO:0001132 sexual sadism disorder MONDO:0000595 DOID:10817 DOID:0060043 sexual and gender identity disorders MONDO:0001133 malignant essential hypertension MONDO:0001134 DOID:10823 DOID:10825 essential hypertension MONDO:0001134 essential hypertension MONDO:0005044 DOID:10825 DOID:10763 hypertensive disorder MONDO:0001135 voyeurism MONDO:0000596 DOID:10834 DOID:0060044 paraphilic disorder MONDO:0001138 angiodysplasia of intestine MONDO:0002322 DOID:10846 DOID:2494 angiodysplasia MONDO:0001138 angiodysplasia of intestine MONDO:0005020 DOID:10846 DOID:5295 intestinal disorder MONDO:0001139 sexual masochism disorder MONDO:0000595 DOID:10849 DOID:0060043 sexual and gender identity disorders MONDO:0001141 middle ear cholesterol granuloma MONDO:0005441 DOID:10852 DOID:10754 otitis media MONDO:0001142 salivary gland disorder MONDO:0006858 DOID:10854 DOID:403 mouth disorder MONDO:0001143 paralytic strabismus MONDO:0003432 DOID:10863 DOID:540 strabismus MONDO:0001148 iliac vein thrombophlebitis MONDO:0002800 DOID:10880 DOID:3875 thrombophlebitis MONDO:0001151 benign essential hypertension MONDO:0001134 DOID:10913 DOID:10825 essential hypertension MONDO:0001152 amnestic disorder MONDO:0002039 DOID:10914 DOID:1561 cognitive disorder MONDO:0001154 Siberian tick typhus MONDO:0001195 DOID:10921 DOID:11104 spotted fever MONDO:0001155 gastrojejunal ulcer MONDO:0004247 DOID:10927 DOID:750 peptic ulcer disease MONDO:0001156 borderline personality disorder MONDO:0002028 DOID:10930 DOID:1510 personality disorder MONDO:0001157 dependent personality disorder MONDO:0002028 DOID:10931 DOID:1510 personality disorder MONDO:0001158 obsessive-compulsive personality disorder MONDO:0002028 DOID:10932 DOID:1510 personality disorder MONDO:0001159 multiple personality disorder MONDO:0001160 DOID:10934 DOID:10935 dissociative disorder MONDO:0001160 dissociative disorder MONDO:0002025 DOID:10935 DOID:150 psychiatric disorder MONDO:0001161 schizoid personality disorder MONDO:0002028 DOID:10936 DOID:1510 personality disorder MONDO:0001162 impulse control disorder MONDO:0002025 DOID:10937 DOID:150 psychiatric disorder MONDO:0001163 paranoid personality disorder MONDO:0002028 DOID:10938 DOID:1510 personality disorder MONDO:0001164 antisocial personality disorder MONDO:0002028 DOID:10939 DOID:1510 personality disorder MONDO:0001165 tongue disorder MONDO:0006858 DOID:10944 DOID:403 mouth disorder MONDO:0001166 nephritis MONDO:0005240 DOID:10952 DOID:557 kidney disorder MONDO:0001167 spastic diplegia MONDO:0000396 DOID:10965 DOID:0050669 spastic cerebral palsy MONDO:0001168 spastic hemiplegia MONDO:0000396 DOID:10967 DOID:0050669 spastic cerebral palsy MONDO:0001169 spastic monoplegia MONDO:0000396 DOID:10968 DOID:0050669 spastic cerebral palsy MONDO:0001171 acute salpingo-oophoritis MONDO:0001172 DOID:10971 DOID:10972 salpingo-oophoritis MONDO:0001172 salpingo-oophoritis MONDO:0006877 DOID:10972 DOID:10974 oophoritis MONDO:0001173 acute salpingitis MONDO:0003619 DOID:10973 DOID:5733 salpingitis MONDO:0001174 conjunctival vascular disorder MONDO:0006170 DOID:10989 DOID:4251 conjunctival disorder MONDO:0001176 lens disorder MONDO:0005328 DOID:110 DOID:5614 eye disorder MONDO:0001177 anorectal stricture MONDO:0002519 DOID:11014 DOID:3128 anus disorder MONDO:0001178 pseudopterygium MONDO:0000942 DOID:11028 DOID:10124 corneal disorder MONDO:0001179 pinguecula MONDO:0000949 DOID:11029 DOID:10139 conjunctival degeneration MONDO:0001180 bullous keratopathy MONDO:0006712 DOID:11031 DOID:11030 corneal edema MONDO:0001181 secondary corneal edema MONDO:0006712 DOID:11032 DOID:11030 corneal edema MONDO:0001182 idiopathic corneal edema MONDO:0006712 DOID:11033 DOID:11030 corneal edema MONDO:0001183 contact lens corneal edema MONDO:0006712 DOID:11034 DOID:11030 corneal edema MONDO:0001185 dissociative amnesia MONDO:0001160 DOID:11037 DOID:10935 dissociative disorder MONDO:0001186 depersonalization disorder MONDO:0001160 DOID:11038 DOID:10935 dissociative disorder MONDO:0001187 urinary bladder cancer MONDO:0006295 DOID:11054 DOID:3996 malignant urinary system neoplasm MONDO:0001188 esophagus lymphoma MONDO:0007576 DOID:1106 DOID:5041 esophageal cancer MONDO:0001190 Brucella suis brucellosis MONDO:0005683 DOID:11076 DOID:11077 brucellosis MONDO:0001192 esophageal melanoma MONDO:0007576 DOID:1108 DOID:5041 esophageal cancer MONDO:0001196 psychologic dyspareunia MONDO:0000947 DOID:11120 DOID:10132 psychosexual disorder MONDO:0001198 acquired thrombocytopenia MONDO:0002049 DOID:11126 DOID:1588 thrombocytopenia MONDO:0001199 dislocation of ear ossicle MONDO:0002409 DOID:11129 DOID:2742 auditory system disorder MONDO:0001200 secondary hypertension MONDO:0005044 DOID:11130 DOID:10763 hypertensive disorder MONDO:0001204 esophagus sarcoma MONDO:0007576 DOID:1114 DOID:5041 esophageal cancer MONDO:0001205 hypersecretion glaucoma MONDO:0005041 DOID:11148 DOID:1686 glaucoma MONDO:0001206 aqueous misdirection MONDO:0005041 DOID:11149 DOID:1686 glaucoma MONDO:0001209 common wart MONDO:0005108 DOID:11165 DOID:934 viral infectious disease MONDO:0001210 enophthalmos MONDO:0004751 DOID:11175 DOID:930 disease of orbital part of eye adnexa MONDO:0001211 total internal ophthalmoplegia MONDO:0000926 DOID:11177 DOID:10034 eye accommodation disease MONDO:0001211 total internal ophthalmoplegia MONDO:0002285 DOID:11177 DOID:238 pupil disorder MONDO:0001212 non-suppurative otitis media MONDO:0005441 DOID:11180 DOID:10754 otitis media MONDO:0001214 acute conjunctivitis MONDO:0003799 DOID:11184 DOID:6195 conjunctivitis MONDO:0001215 allescheriosis MONDO:0000308 DOID:11186 DOID:0050292 primary systemic mycosis MONDO:0001216 pulp degeneration MONDO:0003394 DOID:11189 DOID:5330 dental pulp disorder MONDO:0001217 pseudomembranous conjunctivitis MONDO:0001214 DOID:11190 DOID:11184 acute conjunctivitis MONDO:0001218 acute laryngopharyngitis MONDO:0004867 DOID:11195 DOID:974 upper respiratory tract disorder MONDO:0001219 serous conjunctivitis except viral MONDO:0001214 DOID:11197 DOID:11184 acute conjunctivitis MONDO:0001220 hypoparathyroidism MONDO:0001223 DOID:11199 DOID:11201 parathyroid gland disorder MONDO:0001221 esophageal varices MONDO:0003749 DOID:112 DOID:6050 esophageal disorder MONDO:0001223 parathyroid gland disorder MONDO:0005151 DOID:11201 DOID:28 endocrine system disorder MONDO:0001224 Angelucci syndrome MONDO:0005642 DOID:11203 DOID:11204 atopic conjunctivitis MONDO:0001225 opioid abuse MONDO:0002491 DOID:11206 DOID:302 substance abuse MONDO:0001226 acute contagious conjunctivitis MONDO:0001214 DOID:11213 DOID:11184 acute conjunctivitis MONDO:0001228 conjunctival folliculosis MONDO:0001214 DOID:11219 DOID:11184 acute conjunctivitis MONDO:0001229 small intestine diverticulitis MONDO:0004235 DOID:11223 DOID:7475 diverticulitis MONDO:0001230 acute orbital inflammation MONDO:0004751 DOID:11230 DOID:930 disease of orbital part of eye adnexa MONDO:0001231 orbital periostitis MONDO:0001230 DOID:11231 DOID:11230 acute orbital inflammation MONDO:0001232 orbital osteomyelitis MONDO:0001230 DOID:11232 DOID:11230 acute orbital inflammation MONDO:0001233 orbital tenonitis MONDO:0001230 DOID:11233 DOID:11230 acute orbital inflammation MONDO:0001234 adhesive otitis media MONDO:0002409 DOID:11235 DOID:2742 auditory system disorder MONDO:0001237 appendix lymphoma MONDO:0001235 DOID:11241 DOID:11239 appendix cancer MONDO:0001238 polycythemia neonatorum MONDO:0005571 DOID:11242 DOID:8432 polycythemia MONDO:0001239 anemia of prematurity MONDO:0001240 DOID:11243 DOID:11244 neonatal anemia MONDO:0001240 neonatal anemia MONDO:0002280 DOID:11244 DOID:2355 anemia MONDO:0001241 transient neonatal neutropenia MONDO:0001475 DOID:11245 DOID:1227 neutropenia MONDO:0001242 disseminated intravascular coagulation in newborn MONDO:0001243 DOID:11246 DOID:11247 disseminated intravascular coagulation MONDO:0001243 disseminated intravascular coagulation MONDO:0002305 DOID:11247 DOID:2452 thrombophilia MONDO:0001245 microcytic anemia MONDO:0002280 DOID:11252 DOID:2355 anemia MONDO:0001247 social phobia MONDO:0003699 DOID:11257 DOID:591 phobic disorder MONDO:0001251 chronic apical periodontitis MONDO:0004508 DOID:11269 DOID:823 periapical periodontitis MONDO:0001252 Plummer disease MONDO:0004425 DOID:11277 DOID:7998 hyperthyroidism MONDO:0001255 ventilation pneumonitis MONDO:0017853 DOID:11289 DOID:841 hypersensitivity pneumonitis MONDO:0001256 arteriovenous hemangioma/malformation MONDO:0006500 DOID:11294 DOID:255 hemangioma MONDO:0001257 retinal microaneurysm MONDO:0002311 DOID:11295 DOID:2462 retinal vascular disorder MONDO:0001258 vertebral artery occlusion MONDO:0003718 DOID:11299 DOID:5976 occlusion precerebral artery MONDO:0001259 pituitary gland infarction MONDO:0002721 DOID:1130 DOID:3646 necrosis of pituitary MONDO:0001260 cercarial dermatitis MONDO:0015254 DOID:11302 DOID:1395 schistosomiasis MONDO:0001261 Mobitz type II atrioventricular block MONDO:0000467 DOID:11312 DOID:0050822 second-degree atrioventricular block MONDO:0001263 histoplasmosis retinitis MONDO:0002708 DOID:11316 DOID:3612 retinitis MONDO:0001265 schizophreniform disorder MONDO:0005485 DOID:11328 DOID:2468 psychotic disorder MONDO:0001268 gingival recession MONDO:0002021 DOID:1134 DOID:1483 gingival disorder MONDO:0001269 scleral disorder MONDO:0005328 DOID:11343 DOID:5614 eye disorder MONDO:0001270 stone in bladder diverticulum MONDO:0007197 DOID:11354 DOID:11353 bladder diverticulum MONDO:0001271 lens subluxation MONDO:0001176 DOID:11364 DOID:110 lens disorder MONDO:0001272 functional diarrhea MONDO:0003409 DOID:11371 DOID:5353 colonic disorder MONDO:0001273 megacolon MONDO:0003409 DOID:11372 DOID:5353 colonic disorder MONDO:0001274 anal spasm MONDO:0002519 DOID:11374 DOID:3128 anus disorder MONDO:0001275 spinal meningioma MONDO:0001279 DOID:1138 DOID:1140 intraspinal meningioma MONDO:0001276 expressive language disorder MONDO:0004750 DOID:11385 DOID:93 language disorder MONDO:0001277 cerebral arteritis MONDO:0011057 DOID:11390 DOID:6713 cerebrovascular disorder MONDO:0001280 choroiditis MONDO:0001898 DOID:11406 DOID:1417 optic choroid disorder MONDO:0001281 alternating exotropia MONDO:0001286 DOID:1142 DOID:1143 exotropia MONDO:0001282 fallopian tube endometriosis MONDO:0002156 DOID:11424 DOID:1962 fallopian tube disorder MONDO:0001282 fallopian tube endometriosis MONDO:0005133 DOID:11424 DOID:289 endometriosis MONDO:0001284 endometriosis of intestine MONDO:0005020 DOID:11428 DOID:5295 intestinal disorder MONDO:0001284 endometriosis of intestine MONDO:0005133 DOID:11428 DOID:289 endometriosis MONDO:0001285 endometriosis of pelvic peritoneum MONDO:0005133 DOID:11429 DOID:289 endometriosis MONDO:0001286 exotropia MONDO:0003432 DOID:1143 DOID:540 strabismus MONDO:0001287 endometriosis in cutaneous scar MONDO:0005133 DOID:11430 DOID:289 endometriosis MONDO:0001288 endometriosis of rectovaginal septum and vagina MONDO:0005133 DOID:11431 DOID:289 endometriosis MONDO:0001290 allergic cutaneous vasculitis MONDO:0006794 DOID:11450 DOID:9809 hypersensitivity vasculitis MONDO:0001291 brain compression MONDO:0005560 DOID:11457 DOID:936 brain disorder MONDO:0001292 autonomic nervous system disorder MONDO:0003620 DOID:11465 DOID:574 peripheral nervous system disorder MONDO:0001293 subglottis cancer MONDO:0002352 DOID:11472 DOID:2596 larynx cancer MONDO:0001294 Horner syndrome MONDO:0001300 DOID:11486 DOID:11504 autonomic neuropathy MONDO:0001295 idiopathic peripheral autonomic neuropathy MONDO:0001292 DOID:11488 DOID:11465 autonomic nervous system disorder MONDO:0001296 acquired night blindness MONDO:0006873 DOID:11491 DOID:5113 nutritional deficiency disease MONDO:0001297 cardiac tamponade MONDO:0001370 DOID:115 DOID:118 pericardial effusion MONDO:0001299 diabetic autonomic neuropathy MONDO:0001300 DOID:11503 DOID:11504 autonomic neuropathy MONDO:0001300 autonomic neuropathy MONDO:0001292 DOID:11504 DOID:11465 autonomic nervous system disorder MONDO:0001300 autonomic neuropathy MONDO:0005244 DOID:0060054 DOID:870 peripheral neuropathy MONDO:0001301 rumination disorder MONDO:0005451 DOID:11507 DOID:8670 eating disorder MONDO:0001302 hypertensive heart disease MONDO:0005267 DOID:11516 DOID:114 heart disorder MONDO:0001303 abnormal pupillary function MONDO:0002285 DOID:11518 DOID:238 pupil disorder MONDO:0001305 laryngostenosis MONDO:0004382 DOID:11527 DOID:786 laryngeal disorder MONDO:0001307 corneal abscess MONDO:0004903 DOID:11543 DOID:9858 deep keratitis MONDO:0001308 corneal deposit MONDO:0000942 DOID:11547 DOID:10124 corneal disorder MONDO:0001309 oculomotor nerve paralysis MONDO:0003546 DOID:11550 DOID:562 third cranial nerve disorder MONDO:0001310 Bowman's membrane folds or rupture MONDO:0000942 DOID:11552 DOID:10124 corneal disorder MONDO:0001312 acute serous otitis media MONDO:0002738 DOID:11557 DOID:3697 acute transudative otitis media MONDO:0001313 acute allergic serous otitis media MONDO:0001312 DOID:11558 DOID:11557 acute serous otitis media MONDO:0001314 chondrocalcinosis MONDO:0005578 DOID:1156 DOID:848 arthritic joint disease MONDO:0001315 neurocirculatory asthenia MONDO:0003117 DOID:11569 DOID:4737 somatoform disorder MONDO:0001316 streptococcal meningitis MONDO:0006670 DOID:11574 DOID:9470 bacterial meningitis MONDO:0001317 phlyctenulosis MONDO:0004768 DOID:11581 DOID:9368 keratoconjunctivitis MONDO:0001318 functional gastric disease MONDO:0004298 DOID:1159 DOID:76 stomach disorder MONDO:0001319 bladder lateral wall cancer MONDO:0001187 DOID:11593 DOID:11054 urinary bladder cancer MONDO:0001322 pericardium cancer MONDO:0001340 DOID:116 DOID:117 heart cancer MONDO:0001325 penile cancer MONDO:0005836 DOID:11615 DOID:3856 male reproductive organ cancer MONDO:0001326 dental pulp necrosis MONDO:0003394 DOID:11623 DOID:5330 dental pulp disorder MONDO:0001327 pelvic muscle wasting MONDO:0001592 DOID:11629 DOID:1284 prolapse of female genital organ MONDO:0001329 accommodative spasm MONDO:0000926 DOID:11637 DOID:10034 eye accommodation disease MONDO:0001330 presbyopia MONDO:0000926 DOID:11638 DOID:10034 eye accommodation disease MONDO:0001331 conjunctival deposit MONDO:0006170 DOID:11653 DOID:4251 conjunctival disorder MONDO:0001334 hypertrichosis of eyelid MONDO:0003382 DOID:11669 DOID:530 eyelid disorder MONDO:0001334 hypertrichosis of eyelid MONDO:0019280 DOID:11669 DOID:420 hypertrichosis MONDO:0001335 hypotrichosis of eyelid MONDO:0003037 DOID:11671 DOID:4535 hypotrichosis MONDO:0001335 hypotrichosis of eyelid MONDO:0003382 DOID:11671 DOID:530 eyelid disorder MONDO:0001336 familial hyperlipidemia MONDO:0002525 DOID:1168 DOID:3146 inherited lipid metabolism disorder MONDO:0001337 inflamed seborrheic keratosis MONDO:0008420 DOID:11685 DOID:6498 seborrheic keratosis MONDO:0001338 acute apical periodontitis MONDO:0004508 DOID:11693 DOID:823 periapical periodontitis MONDO:0001339 portal vein thrombosis MONDO:0000831 DOID:11695 DOID:0060903 thrombotic disease MONDO:0001339 portal vein thrombosis MONDO:0002405 DOID:11695 DOID:272 hepatic vascular disorder MONDO:0001339 portal vein thrombosis MONDO:0004634 DOID:11695 DOID:866 vein disorder MONDO:0001340 heart cancer MONDO:0002100 DOID:117 DOID:176 cardiovascular cancer MONDO:0001340 heart cancer MONDO:0003274 DOID:117 DOID:5093 thoracic cancer MONDO:0001341 selective IgA deficiency disease MONDO:0001342 DOID:11701 DOID:11702 dysgammaglobulinemia MONDO:0001342 dysgammaglobulinemia MONDO:0003739 DOID:11702 DOID:6025 selective immunoglobulin deficiency disease MONDO:0001345 antidepressant type abuse MONDO:0002491 DOID:11718 DOID:302 substance abuse MONDO:0001349 odontoclasia MONDO:0005276 DOID:11736 DOID:216 dental caries MONDO:0001351 uterine adnexa cancer MONDO:0002715 DOID:11747 DOID:363 uterine cancer MONDO:0001352 round ligament malignant neoplasm MONDO:0001351 DOID:11748 DOID:11747 uterine adnexa cancer MONDO:0001357 hypochromic anemia MONDO:0002280 DOID:11759 DOID:2355 anemia MONDO:0001358 bronchial disorder MONDO:0000270 DOID:1176 DOID:0050161 lower respiratory tract disorder MONDO:0001360 blind hypotensive eye MONDO:0004390 DOID:11766 DOID:790 ocular hypotension MONDO:0001361 spontaneous ocular nystagmus MONDO:0004843 DOID:11771 DOID:9650 pathologic nystagmus MONDO:0001364 regular astigmatism MONDO:0011284 DOID:11781 DOID:11782 astigmatism MONDO:0001366 splenic sequestration MONDO:0002332 DOID:11786 DOID:2529 splenic disorder MONDO:0001368 phthisical cornea MONDO:0001515 DOID:11793 DOID:1237 corneal degeneration MONDO:0001369 chronic laryngitis MONDO:0002647 DOID:11797 DOID:3437 laryngitis MONDO:0001370 pericardial effusion MONDO:0000474 DOID:118 DOID:0050829 pericardium disorder MONDO:0001371 protein-energy malnutrition MONDO:0006873 DOID:11801 DOID:5113 nutritional deficiency disease MONDO:0001372 bladder neck cancer MONDO:0001187 DOID:11809 DOID:11054 urinary bladder cancer MONDO:0001373 urinary bladder posterior wall cancer MONDO:0001187 DOID:11811 DOID:11054 urinary bladder cancer MONDO:0001374 bladder sarcoma MONDO:0001187 DOID:11812 DOID:11054 urinary bladder cancer MONDO:0001376 urinary bladder anterior wall cancer MONDO:0001187 DOID:11814 DOID:11054 urinary bladder cancer MONDO:0001377 vitreous syneresis MONDO:0004860 DOID:11816 DOID:9720 vitreous disorder MONDO:0001378 urachus cancer MONDO:0001187 DOID:11817 DOID:11054 urinary bladder cancer MONDO:0001380 bladder dome cancer MONDO:0001187 DOID:11820 DOID:11054 urinary bladder cancer MONDO:0001381 bladder lymphoma MONDO:0001187 DOID:11821 DOID:11054 urinary bladder cancer MONDO:0001381 bladder lymphoma MONDO:0005062 DOID:11821 DOID:0060058 lymphoma MONDO:0001383 degenerative myopia MONDO:0001384 DOID:11829 DOID:11830 myopia MONDO:0001384 myopia MONDO:0004892 DOID:11830 DOID:9835 refractive error MONDO:0001385 cortical blindness MONDO:0003584 DOID:11831 DOID:5691 visual cortex disorder MONDO:0001387 penile sarcoma MONDO:0001325 DOID:11838 DOID:11615 penile cancer MONDO:0001388 glans penis cancer MONDO:0001325 DOID:11839 DOID:11615 penile cancer MONDO:0001389 congenital coronary artery anomaly MONDO:0005010 DOID:11843 DOID:3393 coronary artery disorder MONDO:0001390 transient refractive change MONDO:0004892 DOID:11850 DOID:9835 refractive error MONDO:0001391 indeterminate leprosy MONDO:0005124 DOID:11851 DOID:1024 leprosy MONDO:0001392 monocular exotropia MONDO:0001286 DOID:11853 DOID:1143 exotropia MONDO:0001393 peripheral focal chorioretinitis MONDO:0002164 DOID:11864 DOID:1979 focal chorioretinitis MONDO:0001395 macular keratitis MONDO:0003085 DOID:11871 DOID:4677 keratitis MONDO:0001396 abnormal threshold of rods MONDO:0004588 DOID:11874 DOID:8499 night blindness MONDO:0001397 mononeuropathy MONDO:0005244 DOID:1188 DOID:870 peripheral neuropathy MONDO:0001398 ureter benign neoplasm MONDO:0004180 DOID:11885 DOID:731 benign urinary system neoplasm MONDO:0001399 ureter leiomyoma MONDO:0001398 DOID:11887 DOID:11885 ureter benign neoplasm MONDO:0001399 ureter leiomyoma MONDO:0001572 DOID:11887 DOID:127 leiomyoma MONDO:0001400 schwannoma of ureter MONDO:0001398 DOID:11888 DOID:11885 ureter benign neoplasm MONDO:0001400 schwannoma of ureter MONDO:0004820 DOID:11888 DOID:956 peripheral nerve schwannoma MONDO:0001401 female breast nipple and areola cancer MONDO:0004379 DOID:11889 DOID:0050671 female breast carcinoma MONDO:0001402 vaginal cancer MONDO:0001416 DOID:119 DOID:120 female reproductive organ cancer MONDO:0001403 labium majus cancer MONDO:0001528 DOID:11905 DOID:1245 vulva cancer MONDO:0001404 ecthyma MONDO:0004592 DOID:11907 DOID:8504 impetigo MONDO:0001405 dermatophytosis of groin and perianal area MONDO:0004678 DOID:11917 DOID:8913 dermatophytosis MONDO:0001406 peripheral nervous system neoplasm MONDO:0003620 DOID:1192 DOID:574 peripheral nervous system disorder MONDO:0001407 tracheal cancer MONDO:0000376 DOID:11920 DOID:0050615 respiratory system cancer MONDO:0001408 ischemic neuropathy MONDO:0005244 DOID:1195 DOID:870 peripheral neuropathy MONDO:0001409 esophagitis MONDO:0003749 DOID:11963 DOID:6050 esophageal disorder MONDO:0001410 postmenopausal atrophic vaginitis MONDO:0002234 DOID:11968 DOID:2170 vaginitis MONDO:0001411 synostosis MONDO:0018234 DOID:11971 DOID:1934 dysostosis MONDO:0001412 conjunctival concretion MONDO:0001331 DOID:11988 DOID:11653 conjunctival deposit MONDO:0001413 ulceroglandular tularemia MONDO:0018077 DOID:11990 DOID:2123 tularemia MONDO:0001414 osteopoikilosis MONDO:0002933 DOID:11991 DOID:4254 osteosclerosis MONDO:0001415 atrophy of testis MONDO:0002329 DOID:11994 DOID:2519 testicular disorder MONDO:0001416 female reproductive organ cancer MONDO:0002149 DOID:120 DOID:193 reproductive system cancer MONDO:0001417 tracheal lymphoma MONDO:0001407 DOID:12001 DOID:11920 tracheal cancer MONDO:0001417 tracheal lymphoma MONDO:0005062 DOID:12001 DOID:0060058 lymphoma MONDO:0001418 trachea sarcoma MONDO:0001407 DOID:12002 DOID:11920 tracheal cancer MONDO:0001419 trachea squamous cell carcinoma MONDO:0003184 DOID:12003 DOID:4876 trachea carcinoma MONDO:0001419 trachea squamous cell carcinoma MONDO:0005096 DOID:12003 DOID:1749 squamous cell carcinoma MONDO:0001426 mediastinum neurofibroma MONDO:0003098 DOID:12064 DOID:4691 mediastinal neural neoplasm MONDO:0001426 mediastinum neurofibroma MONDO:0016755 DOID:12064 DOID:962 neurofibroma MONDO:0001427 Dieulafoy lesion MONDO:0004298 DOID:12070 DOID:76 stomach disorder MONDO:0001428 pylorospasm MONDO:0004298 DOID:12072 DOID:76 stomach disorder MONDO:0001430 deep corneal vascularisation MONDO:0006713 DOID:12087 DOID:11382 corneal neovascularization MONDO:0001431 toxic or nutritional optic neuropathy MONDO:0005885 DOID:1209 DOID:1210 optic neuritis MONDO:0001433 vaginal disorder MONDO:0002263 DOID:121 DOID:229 female reproductive system disorder MONDO:0001434 inflammatory spondylopathy MONDO:0003937 DOID:12105 DOID:6590 spondylitis MONDO:0001435 bullous retinoschisis MONDO:0004579 DOID:12108 DOID:8465 retinoschisis MONDO:0001436 hemosiderosis MONDO:0002279 DOID:12119 DOID:2351 iron metabolism disease MONDO:0001437 pulmonary alveolar proteinosis MONDO:0005275 DOID:12120 DOID:850 lung disorder MONDO:0001438 postinflammatory pulmonary fibrosis MONDO:0002771 DOID:12123 DOID:3770 pulmonary fibrosis MONDO:0001439 episcleritis periodica fugax MONDO:0001269 DOID:12124 DOID:11343 scleral disorder MONDO:0001440 neurotrophic keratoconjunctivitis MONDO:0004768 DOID:12125 DOID:9368 keratoconjunctivitis MONDO:0001441 pica disease MONDO:0005451 DOID:12128 DOID:8670 eating disorder MONDO:0001442 dysthymic disorder MONDO:0005371 DOID:12139 DOID:3324 mood disorder MONDO:0001443 tympanosclerosis MONDO:0003648 DOID:1214 DOID:5782 tympanic membrane disorder MONDO:0001444 Chagas disease MONDO:0000940 DOID:12140 DOID:10113 trypanosomiasis MONDO:0001446 low compliance bladder MONDO:0006026 DOID:12144 DOID:365 urinary bladder disorder MONDO:0001447 detrusor sphincter dyssynergia MONDO:0006026 DOID:12145 DOID:365 urinary bladder disorder MONDO:0001451 peripheral retinal degeneration MONDO:0004580 DOID:12161 DOID:8466 retinal degeneration MONDO:0001452 pseudoretinitis pigmentosa MONDO:0001451 DOID:12162 DOID:12161 peripheral retinal degeneration MONDO:0001453 senile reticular retinal degeneration MONDO:0001451 DOID:12163 DOID:12161 peripheral retinal degeneration MONDO:0001454 Blessig's cysts MONDO:0001451 DOID:12164 DOID:12161 peripheral retinal degeneration MONDO:0001455 retinal lattice degeneration MONDO:0001451 DOID:12165 DOID:12161 peripheral retinal degeneration MONDO:0001456 cobblestone retinal degeneration MONDO:0001451 DOID:12166 DOID:12161 peripheral retinal degeneration MONDO:0001457 secondary vitreoretinal degeneration MONDO:0001451 DOID:12167 DOID:12161 peripheral retinal degeneration MONDO:0001459 radial neuropathy MONDO:0001397 DOID:12171 DOID:1188 mononeuropathy MONDO:0001460 dyshormonogenic goiter MONDO:0005397 DOID:12175 DOID:12176 goiter MONDO:0001461 tinea corporis MONDO:0004678 DOID:12179 DOID:8913 dermatophytosis MONDO:0001462 descending colon cancer MONDO:0021063 DOID:12190 DOID:219 malignant colon neoplasm MONDO:0001463 splenic flexure cancer MONDO:0001462 DOID:12191 DOID:12190 descending colon cancer MONDO:0001464 sigmoid colon cancer MONDO:0021063 DOID:12192 DOID:219 malignant colon neoplasm MONDO:0001465 superficial keratitis MONDO:0003085 DOID:12196 DOID:4677 keratitis MONDO:0001466 punctate epithelial keratoconjunctivitis MONDO:0004768 DOID:12197 DOID:9368 keratoconjunctivitis MONDO:0001468 synovial plica syndrome MONDO:0006816 DOID:12225 DOID:381 arthropathy MONDO:0001469 cascade stomach MONDO:0004298 DOID:12234 DOID:76 stomach disorder MONDO:0001470 anal margin squamous cell carcinoma MONDO:0002941 DOID:12239 DOID:4284 anal margin carcinoma MONDO:0001471 histoplasmosis meningitis MONDO:0006764 DOID:12246 DOID:11608 fungal meningitis MONDO:0001472 testicular lymphoma MONDO:0005447 DOID:12253 DOID:2998 testicular cancer MONDO:0001473 medulloadrenal hyperfunction MONDO:0005495 DOID:12257 DOID:9553 adrenal gland disorder MONDO:0001474 chronic salpingo-oophoritis MONDO:0001172 DOID:12265 DOID:10972 salpingo-oophoritis MONDO:0001475 neutropenia MONDO:0001609 DOID:1227 DOID:12987 agranulocytosis MONDO:0001476 coloboma MONDO:0005328 DOID:12270 DOID:5614 eye disorder MONDO:0001478 anisometropia MONDO:0004892 DOID:12273 DOID:9835 refractive error MONDO:0001479 cutaneous diphtheria MONDO:0002922 DOID:12275 DOID:4223 pyoderma MONDO:0001480 malignant tumor of undescended testis MONDO:0005447 DOID:12276 DOID:2998 testicular cancer MONDO:0001481 femoral vein thrombophlebitis MONDO:0002800 DOID:12282 DOID:3875 thrombophlebitis MONDO:0001482 testicular leukemia MONDO:0005447 DOID:12286 DOID:2998 testicular cancer MONDO:0001484 paranoid schizophrenia MONDO:0005090 DOID:1229 DOID:5419 schizophrenia MONDO:0001485 atypical depressive disorder MONDO:0005371 DOID:12294 DOID:3324 mood disorder MONDO:0001488 anterior corneal pigmentation MONDO:0001308 DOID:12307 DOID:11547 corneal deposit MONDO:0001490 corneal granular dystrophy MONDO:0000764 DOID:12318 DOID:0060441 epithelial-stromal TGFBI dystrophy MONDO:0001492 kyphoscoliotic heart disease MONDO:0001493 DOID:12325 DOID:12326 chronic pulmonary heart disease MONDO:0001493 chronic pulmonary heart disease MONDO:0004596 DOID:12326 DOID:8515 cor pulmonale MONDO:0001496 male genital organ stricture MONDO:0003150 DOID:12333 DOID:48 male reproductive system disorder MONDO:0001497 male genital organ vascular disease MONDO:0003150 DOID:12335 DOID:48 male reproductive system disorder MONDO:0001498 varicocele MONDO:0004869 DOID:12337 DOID:9742 pelvic varices MONDO:0001499 retroperitoneal lymphoma MONDO:0005062 DOID:12339 DOID:0060058 lymphoma MONDO:0001499 retroperitoneal lymphoma MONDO:0005941 DOID:12339 DOID:5875 retroperitoneal cancer MONDO:0001501 retroperitoneal sarcoma MONDO:0005941 DOID:12341 DOID:5875 retroperitoneal cancer MONDO:0001502 retroperitoneum carcinoma MONDO:0004993 DOID:12342 DOID:305 carcinoma MONDO:0001502 retroperitoneum carcinoma MONDO:0005941 DOID:12342 DOID:5875 retroperitoneal cancer MONDO:0001503 primary eye hypotony MONDO:0004390 DOID:12349 DOID:790 ocular hypotension MONDO:0001504 fetishistic disorder MONDO:0000596 DOID:1235 DOID:0060044 paraphilic disorder MONDO:0001505 alcoholic hepatitis MONDO:0002251 DOID:12351 DOID:2237 hepatitis MONDO:0001506 prostatocystitis MONDO:0006032 DOID:12355 DOID:1679 cystitis MONDO:0001507 viral labyrinthitis MONDO:0002008 DOID:12357 DOID:1468 labyrinthitis MONDO:0001507 viral labyrinthitis MONDO:0005108 DOID:12357 DOID:934 viral infectious disease MONDO:0001508 patulous eustachian tube MONDO:0004866 DOID:12358 DOID:9739 eustachian tube disorder MONDO:0001509 endocrine exophthalmos MONDO:0004751 DOID:12359 DOID:930 disease of orbital part of eye adnexa MONDO:0001510 lateral displacement of eye MONDO:0004751 DOID:12360 DOID:930 disease of orbital part of eye adnexa MONDO:0001511 thyrotoxic exophthalmos MONDO:0001509 DOID:12362 DOID:12359 endocrine exophthalmos MONDO:0001512 intermittent proptosis MONDO:0004751 DOID:12363 DOID:930 disease of orbital part of eye adnexa MONDO:0001513 pulsating exophthalmos MONDO:0004751 DOID:12364 DOID:930 disease of orbital part of eye adnexa MONDO:0001514 prolapse of urethra MONDO:0001592 DOID:12369 DOID:1284 prolapse of female genital organ MONDO:0001514 prolapse of urethra MONDO:0004184 DOID:12369 DOID:732 urethral disorder MONDO:0001515 corneal degeneration MONDO:0000942 DOID:1237 DOID:10124 corneal disorder MONDO:0001517 dysentery MONDO:0000916 DOID:12384 DOID:100 intestinal infectious disease MONDO:0001518 spastic entropion MONDO:0001519 DOID:12395 DOID:12397 entropion MONDO:0001519 entropion MONDO:0003382 DOID:12397 DOID:530 eyelid disorder MONDO:0001520 kleptomania MONDO:0001162 DOID:12400 DOID:10937 impulse control disorder MONDO:0001521 intermittent explosive disorder MONDO:0001162 DOID:12401 DOID:10937 impulse control disorder MONDO:0001522 pyromania MONDO:0001162 DOID:12402 DOID:10937 impulse control disorder MONDO:0001523 luxation of globe MONDO:0005328 DOID:1241 DOID:1242 eye disorder MONDO:0001525 thyrocalcitonin secretion disease MONDO:0003240 DOID:12424 DOID:50 thyroid gland disorder MONDO:0001526 labia minora cancer MONDO:0001528 DOID:1243 DOID:1245 vulva cancer MONDO:0001526 labia minora cancer MONDO:0002898 DOID:1243 DOID:4159 skin cancer MONDO:0001527 conjugate gaze palsy MONDO:0003432 DOID:12445 DOID:540 strabismus MONDO:0001528 vulva cancer MONDO:0001416 DOID:1245 DOID:120 female reproductive organ cancer MONDO:0001529 pancytopenia MONDO:0002280 DOID:12450 DOID:2355 anemia MONDO:0001530 secondary hyperparathyroidism of renal origin MONDO:0006964 DOID:12465 DOID:12466 secondary hyperparathyroidism MONDO:0001531 blood coagulation disease MONDO:0005570 DOID:1247 DOID:74 hematologic disorder MONDO:0001533 pes anserinus tendinitis or bursitis MONDO:0002183 DOID:12475 DOID:204 enthesopathy MONDO:0001534 ocular hyperemia MONDO:0006170 DOID:1248 DOID:4251 conjunctival disorder MONDO:0001535 vagus nerve disorder MONDO:0002639 DOID:12491 DOID:3418 glossopharyngeal nerve disorder MONDO:0001536 vaginal leiomyoma MONDO:0000647 DOID:125 DOID:0060114 benign vaginal neoplasm MONDO:0001536 vaginal leiomyoma MONDO:0001572 DOID:125 DOID:127 leiomyoma MONDO:0001538 retinal ischemia MONDO:0005053 DOID:12510 DOID:326 ischemic disease MONDO:0001539 retinal perforation MONDO:0008375 DOID:12514 DOID:5327 retinal detachment MONDO:0001540 bagassosis MONDO:0017853 DOID:12522 DOID:841 hypersensitivity pneumonitis MONDO:0001542 common peroneal nerve lesion MONDO:0004797 DOID:12527 DOID:9473 mononeuritis of lower limb MONDO:0001544 tibial nerve palsy MONDO:0004797 DOID:12529 DOID:9473 mononeuritis of lower limb MONDO:0001546 hypermobility of coccyx MONDO:0005095 DOID:12537 DOID:1123 spondyloarthropathy MONDO:0001547 atrophic nonflaccid tympanic membrane MONDO:0003648 DOID:12546 DOID:5782 tympanic membrane disorder MONDO:0001548 hepatic coma MONDO:0001711 DOID:12550 DOID:13413 hepatic encephalopathy MONDO:0001551 ulceration of vulva MONDO:0002187 DOID:12566 DOID:2059 vulvar disease MONDO:0001552 dyscalculia MONDO:0004681 DOID:12568 DOID:8927 learning disability MONDO:0001553 phacolytic glaucoma MONDO:0001554 DOID:12570 DOID:12571 phacogenic glaucoma MONDO:0001554 phacogenic glaucoma MONDO:0005041 DOID:12571 DOID:1686 glaucoma MONDO:0001555 neonatal thyrotoxicosis MONDO:0010138 DOID:12573 DOID:7997 thyrotoxicosis MONDO:0001556 urethral obstruction MONDO:0004184 DOID:12577 DOID:732 urethral disorder MONDO:0001557 olecranon bursitis MONDO:0002183 DOID:12581 DOID:204 enthesopathy MONDO:0001557 olecranon bursitis MONDO:0002471 DOID:12581 DOID:2965 bursitis MONDO:0001559 perineocele MONDO:0001592 DOID:12637 DOID:1284 prolapse of female genital organ MONDO:0001560 hypertrophic pyloric stenosis MONDO:0001561 DOID:12638 DOID:12639 pyloric stenosis MONDO:0001561 pyloric stenosis MONDO:0004298 DOID:3122 DOID:76 stomach disorder MONDO:0001562 displacement of cardia through esophageal hiatus MONDO:0007721 DOID:12641 DOID:12642 hiatus hernia MONDO:0001563 vestibulocochlear nerve disorder MONDO:0002453 DOID:12657 DOID:2889 retrocochlear disease MONDO:0001563 vestibulocochlear nerve disorder MONDO:0003569 DOID:12657 DOID:5656 cranial nerve neuropathy MONDO:0001565 abnormal retinal correspondence MONDO:0001564 DOID:12668 DOID:12667 binocular vision disease MONDO:0001566 hypercalcemia disease MONDO:0005557 DOID:12678 DOID:10575 calcium metabolic disease MONDO:0001567 nephrocalcinosis MONDO:0005240 DOID:12679 DOID:557 kidney disorder MONDO:0001569 acoustic neuroma MONDO:0002546 DOID:12689 DOID:3192 schwannoma MONDO:0001571 gynecomastia disorder MONDO:0002145 DOID:12698 DOID:1923 disorder of sexual differentiation MONDO:0001574 capillary disorder MONDO:0005385 DOID:1271 DOID:178 vascular disorder MONDO:0001575 chronic gonococcal salpingitis MONDO:0003617 DOID:12718 DOID:5731 chronic salpingitis MONDO:0001576 telangiectasis MONDO:0005294 DOID:1272 DOID:341 peripheral vascular disease MONDO:0001579 corneal staphyloma MONDO:0000942 DOID:12753 DOID:10124 corneal disorder MONDO:0001580 lacrimal duct cancer MONDO:0002460 DOID:12756 DOID:292 lacrimal system cancer MONDO:0001582 cicatricial ectropion MONDO:0002043 DOID:12782 DOID:1570 ectropion MONDO:0001583 diabetic polyneuropathy MONDO:0006626 DOID:12785 DOID:9743 diabetic neuropathy MONDO:0001584 ocular motility disease MONDO:0003569 DOID:1279 DOID:5656 cranial nerve neuropathy MONDO:0001585 hallucinogen abuse MONDO:0002491 DOID:12797 DOID:302 substance abuse MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0019249 DOID:12802 DOID:12798 mucopolysaccharidosis MONDO:0001588 chronic lacrimal gland enlargement MONDO:0004804 DOID:12809 DOID:950 dacryoadenitis MONDO:0001591 senile entropion MONDO:0001519 DOID:12836 DOID:12397 entropion MONDO:0001592 prolapse of female genital organ MONDO:0002263 DOID:1284 DOID:229 female reproductive system disorder MONDO:0001594 Achilles bursitis MONDO:0002471 DOID:12857 DOID:2965 bursitis MONDO:0001595 choreatic disease MONDO:0005395 DOID:12859 DOID:480 movement disorder MONDO:0001596 hypochondriasis MONDO:0003117 DOID:12883 DOID:4737 somatoform disorder MONDO:0001597 submandibular gland disorder MONDO:0001142 DOID:12897 DOID:10854 salivary gland disorder MONDO:0001598 benign lymphoepithelial lesion of salivary gland MONDO:0001142 DOID:12899 DOID:10854 salivary gland disorder MONDO:0001600 mucocele of salivary gland MONDO:0001142 DOID:12904 DOID:10854 salivary gland disorder MONDO:0001601 Plasmodium ovale malaria MONDO:0005136 DOID:12919 DOID:12365 malaria MONDO:0001602 labia minora carcinoma MONDO:0005215 DOID:1293 DOID:1294 vulvar carcinoma MONDO:0001603 paralytic lagophthalmos MONDO:0001604 DOID:12958 DOID:12959 lagophthalmos MONDO:0001604 lagophthalmos MONDO:0003382 DOID:12959 DOID:530 eyelid disorder MONDO:0001606 central nervous system leukemia MONDO:0003641 DOID:12969 DOID:5772 central nervous system hematopoietic neoplasm MONDO:0001606 central nervous system leukemia MONDO:0005059 DOID:12969 DOID:1240 leukemia MONDO:0001607 intrapelvic lymph node leukemic reticuloendotheliosis MONDO:0001082 DOID:12972 DOID:10619 lymph node cancer MONDO:0001609 agranulocytosis MONDO:0003785 DOID:12987 DOID:615 leukopenia MONDO:0001610 acute dacryocystitis MONDO:0004926 DOID:12996 DOID:9938 dacryocystitis MONDO:0001611 phlegmonous dacryocystitis MONDO:0004926 DOID:12997 DOID:9938 dacryocystitis MONDO:0001612 carotid stenosis MONDO:0005269 DOID:13001 DOID:3407 carotid artery disorder MONDO:0001614 intra-abdominal lymph node mast cell malignancy MONDO:0001082 DOID:13005 DOID:10619 lymph node cancer MONDO:0001615 epidemic keratoconjunctivitis MONDO:0004768 DOID:13014 DOID:9368 keratoconjunctivitis MONDO:0001616 lobomycosis MONDO:0002040 DOID:13026 DOID:1563 dermatomycosis MONDO:0001617 transient global amnesia MONDO:0001152 DOID:13027 DOID:10914 amnestic disorder MONDO:0001620 louse-borne relapsing fever MONDO:0019633 DOID:13035 DOID:13034 relapsing fever MONDO:0001621 tick-borne relapsing fever MONDO:0019633 DOID:13036 DOID:13034 relapsing fever MONDO:0001622 mechanical lagophthalmos MONDO:0001604 DOID:13037 DOID:12959 lagophthalmos MONDO:0001623 cicatricial lagophthalmos MONDO:0001604 DOID:13038 DOID:12959 lagophthalmos MONDO:0001624 acute sphenoidal sinusitis MONDO:0005964 DOID:13046 DOID:10794 sphenoid sinusitis MONDO:0001625 corpus luteum cyst MONDO:0003282 DOID:13050 DOID:5119 ovarian cyst MONDO:0001626 traumatic glaucoma MONDO:0005041 DOID:13060 DOID:1686 glaucoma MONDO:0001627 dementia MONDO:0002039 DOID:1307 DOID:1561 cognitive disorder MONDO:0001628 tinea unguium MONDO:0004678 DOID:13074 DOID:8913 dermatophytosis MONDO:0001629 Jaccoud syndrome MONDO:0007179 DOID:13080 DOID:417 autoimmune disease MONDO:0001630 branch retinal artery occlusion MONDO:0006948 DOID:13094 DOID:8483 retinal artery occlusion MONDO:0001631 vertebral artery insufficiency MONDO:0000473 DOID:13095 DOID:0050828 arterial disorder MONDO:0001631 vertebral artery insufficiency MONDO:0002254 DOID:13095 DOID:225 syndromic disease MONDO:0001631 vertebral artery insufficiency MONDO:0005264 DOID:13095 DOID:224 transient ischemic attack MONDO:0001632 intracranial arteriosclerosis MONDO:0002277 DOID:13097 DOID:2349 arteriosclerosis disorder MONDO:0001633 central retinal artery occlusion MONDO:0006948 DOID:13098 DOID:8483 retinal artery occlusion MONDO:0001634 bladder leiomyoma MONDO:0000384 DOID:13109 DOID:0050623 bladder benign neoplasm MONDO:0001634 bladder leiomyoma MONDO:0001572 DOID:13109 DOID:127 leiomyoma MONDO:0001635 bladder squamous papilloma MONDO:0000384 DOID:13110 DOID:0050623 bladder benign neoplasm MONDO:0001636 mechanical entropion MONDO:0001519 DOID:13112 DOID:12397 entropion MONDO:0001637 cicatricial entropion MONDO:0001519 DOID:13113 DOID:12397 entropion MONDO:0001640 gonococcal spondylitis MONDO:0003937 DOID:13127 DOID:6590 spondylitis MONDO:0001641 severe pre-eclampsia MONDO:0005081 DOID:13129 DOID:10591 preeclampsia MONDO:0001643 exophthalmic ophthalmoplegia MONDO:0003425 DOID:13135 DOID:539 ophthalmoplegia MONDO:0001645 crescentic glomerulonephritis MONDO:0001644 DOID:13139 DOID:13138 acute proliferative glomerulonephritis MONDO:0001646 benign secondary hypertension MONDO:0001200 DOID:13143 DOID:11130 secondary hypertension MONDO:0001647 benign renovascular hypertension MONDO:0001105 DOID:13145 DOID:1073 renal hypertension MONDO:0001647 benign renovascular hypertension MONDO:0001646 DOID:13145 DOID:13143 benign secondary hypertension MONDO:0001648 esophageal candidiasis MONDO:0002026 DOID:13146 DOID:1508 candidiasis MONDO:0001649 fungal esophagitis MONDO:0001409 DOID:13147 DOID:11963 esophagitis MONDO:0001649 fungal esophagitis MONDO:0002041 DOID:13147 DOID:1564 fungal infectious disease MONDO:0001650 acute cystitis MONDO:0006032 DOID:13148 DOID:1679 cystitis MONDO:0001651 scrotum squamous cell carcinoma MONDO:0002650 DOID:13159 DOID:3445 scrotal carcinoma MONDO:0001651 scrotum squamous cell carcinoma MONDO:0005096 DOID:13159 DOID:1749 squamous cell carcinoma MONDO:0001652 scrotum melanoma MONDO:0003319 DOID:13160 DOID:518 scrotum neoplasm MONDO:0001652 scrotum melanoma MONDO:0005105 DOID:13160 DOID:1909 melanoma MONDO:0001653 prepuce cancer MONDO:0002898 DOID:13168 DOID:4159 skin cancer MONDO:0001654 spermatic cord cancer MONDO:0005836 DOID:13169 DOID:3856 male reproductive organ cancer MONDO:0001655 dissociated nystagmus MONDO:0004843 DOID:13174 DOID:9650 pathologic nystagmus MONDO:0001656 megaesophagus MONDO:0003749 DOID:13186 DOID:6050 esophageal disorder MONDO:0001657 brain cancer MONDO:0002714 DOID:1319 DOID:3620 central nervous system cancer MONDO:0001658 nontoxic goiter MONDO:0005397 DOID:13195 DOID:12176 goiter MONDO:0001660 proliferative diabetic retinopathy MONDO:0005266 DOID:13207 DOID:8947 diabetic retinopathy MONDO:0001661 background diabetic retinopathy MONDO:0005266 DOID:13208 DOID:8947 diabetic retinopathy MONDO:0001663 hole retinal cyst MONDO:0002175 DOID:13214 DOID:2007 degeneration of macula and posterior pole MONDO:0001664 submucous uterine fibroid MONDO:0007886 DOID:13222 DOID:13223 uterine corpus leiomyoma MONDO:0001665 oculoglandular tularemia MONDO:0018077 DOID:13226 DOID:2123 tularemia MONDO:0001666 retinal dystrophies primarily involving Bruch's membrane MONDO:0019118 DOID:13227 DOID:8501 inherited retinal dystrophy MONDO:0001668 internal pathological resorption of tooth MONDO:0001670 DOID:13239 DOID:13240 tooth resorption MONDO:0001670 tooth resorption MONDO:0002220 DOID:13240 DOID:214 tooth hard tissue disease MONDO:0001671 mucocele of appendix MONDO:0005020 DOID:13248 DOID:5295 intestinal disorder MONDO:0001672 bronchus cancer MONDO:0000376 DOID:1325 DOID:0050615 respiratory system cancer MONDO:0001673 diarrheal disease MONDO:0004335 DOID:13250 DOID:77 digestive system disorder MONDO:0001674 diverticulitis of colon MONDO:0003409 DOID:13254 DOID:5353 colonic disorder MONDO:0001674 diverticulitis of colon MONDO:0004235 DOID:13254 DOID:7475 diverticulitis MONDO:0001676 erythropoietic protoporphyria MONDO:0002520 DOID:13270 DOID:3133 hepatic porphyria MONDO:0001678 intestinal tuberculosis MONDO:0005768 DOID:13282 DOID:404 gastrointestinal tuberculosis MONDO:0001680 vaginal mullerian papilloma MONDO:0000647 DOID:133 DOID:0060114 benign vaginal neoplasm MONDO:0001681 diphtheritic cystitis MONDO:0006032 DOID:13306 DOID:1679 cystitis MONDO:0001682 diphtheritic peritonitis MONDO:0004522 DOID:13310 DOID:8283 infectious peritonitis MONDO:0001683 pancreatic mucinous ductal ectasia MONDO:0002356 DOID:13313 DOID:26 pancreas disorder MONDO:0001684 exocrine pancreatic insufficiency MONDO:0002356 DOID:13316 DOID:26 pancreas disorder MONDO:0001685 chronic follicular conjunctivitis MONDO:0002314 DOID:13326 DOID:2475 chronic conjunctivitis MONDO:0001686 anatomical narrow angle borderline glaucoma MONDO:0004744 DOID:13327 DOID:9283 borderline glaucoma MONDO:0001687 diabetic cataract MONDO:0005129 DOID:13328 DOID:83 cataract MONDO:0001688 toxic optic neuropathy MONDO:0005885 DOID:13329 DOID:1210 optic neuritis MONDO:0001689 hypertrophy of tongue papillae MONDO:0001165 DOID:13333 DOID:10944 tongue disorder MONDO:0001690 parasitic conjunctivitis MONDO:0002314 DOID:13341 DOID:2475 chronic conjunctivitis MONDO:0001691 laryngeal cartilage cancer MONDO:0002352 DOID:13348 DOID:2596 larynx cancer MONDO:0001692 pedophilia MONDO:0000596 DOID:13351 DOID:0060044 paraphilic disorder MONDO:0001694 diffuse interstitial keratitis MONDO:0004902 DOID:13353 DOID:9857 interstitial keratitis MONDO:0001695 senile ectropion MONDO:0002043 DOID:13356 DOID:1570 ectropion MONDO:0001697 reading disorder MONDO:0004681 DOID:13365 DOID:8927 learning disability MONDO:0001699 tinea manuum MONDO:0004678 DOID:13369 DOID:8913 dermatophytosis MONDO:0001700 megaloblastic anemia MONDO:0002281 DOID:13382 DOID:2361 macrocytic anemia MONDO:0001701 gastrointestinal anthrax MONDO:0005119 DOID:13386 DOID:7427 anthrax infection MONDO:0001702 labia majora carcinoma MONDO:0005215 DOID:13389 DOID:1294 vulvar carcinoma MONDO:0001703 color vision disorder MONDO:0001941 DOID:13399 DOID:1432 blindness (disorder) MONDO:0001707 cardiac sarcoidosis MONDO:0019338 DOID:13405 DOID:11335 sarcoidosis MONDO:0001708 pulmonary sarcoidosis MONDO:0019338 DOID:13406 DOID:11335 sarcoidosis MONDO:0001709 hypercalcemic sarcoidosis MONDO:0019338 DOID:13407 DOID:11335 sarcoidosis MONDO:0001711 hepatic encephalopathy MONDO:0005560 DOID:13413 DOID:936 brain disorder MONDO:0001713 inherited aplastic anemia MONDO:0015909 DOID:1342 DOID:12449 aplastic anemia MONDO:0001715 basilar artery occlusion MONDO:0003718 DOID:13446 DOID:5976 occlusion precerebral artery MONDO:0001716 corneal argyrosis MONDO:0000942 DOID:13447 DOID:10124 corneal disorder MONDO:0001717 posterior corneal pigmentation MONDO:0001308 DOID:13448 DOID:11547 corneal deposit MONDO:0001718 scleritis MONDO:0001269 DOID:13452 DOID:11343 scleral disorder MONDO:0001719 gonococcal bursitis MONDO:0002471 DOID:13453 DOID:2965 bursitis MONDO:0001720 gonococcal synovitis MONDO:0002400 DOID:13454 DOID:2703 synovitis MONDO:0001721 urethral intrinsic sphincter deficiency MONDO:0004184 DOID:13461 DOID:732 urethral disorder MONDO:0001722 central pterygium MONDO:0001723 DOID:13473 DOID:13474 progressive peripheral pterygium MONDO:0001723 progressive peripheral pterygium MONDO:0001055 DOID:13474 DOID:10526 conjunctival pterygium MONDO:0001724 supraglottis cancer MONDO:0002352 DOID:13476 DOID:2596 larynx cancer MONDO:0001725 balanitis xerotica obliterans MONDO:0006672 DOID:13477 DOID:13033 balanitis MONDO:0001727 active cochleovestibular Meniere disease MONDO:0007972 DOID:13490 DOID:9849 Meniere disease MONDO:0001728 active vestibular Meniere disease MONDO:0007972 DOID:13491 DOID:9849 Meniere disease MONDO:0001729 active cochlear Meniere disease MONDO:0007972 DOID:13492 DOID:9849 Meniere disease MONDO:0001730 urethral syndrome MONDO:0004184 DOID:13498 DOID:732 urethral disorder MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm MONDO:0000647 DOID:135 DOID:0060114 benign vaginal neoplasm MONDO:0001732 trigonitis MONDO:0006032 DOID:13507 DOID:1679 cystitis MONDO:0001734 tuberous sclerosis MONDO:0000426 DOID:13515 DOID:0050736 autosomal dominant disease MONDO:0001735 paranasal sinus disorder MONDO:0002436 DOID:1352 DOID:2825 nasal disorder MONDO:0001736 neonatal infective mastitis MONDO:0006849 DOID:13520 DOID:10690 mastitis MONDO:0001737 tetanus neonatorum MONDO:0005526 DOID:13521 DOID:11338 tetanus MONDO:0001739 purulent labyrinthitis MONDO:0002008 DOID:13534 DOID:1468 labyrinthitis MONDO:0001740 cornea squamous cell carcinoma MONDO:0003802 DOID:13538 DOID:6199 cornea cancer MONDO:0001741 hyperparathyroidism MONDO:0001223 DOID:13543 DOID:11201 parathyroid gland disorder MONDO:0001742 interval angle-closure glaucoma MONDO:0001868 DOID:13549 DOID:1405 primary angle-closure glaucoma MONDO:0001744 angle-closure glaucoma MONDO:0005041 DOID:13550 DOID:1686 glaucoma MONDO:0001745 subserous uterine fibroid MONDO:0007886 DOID:13560 DOID:13223 uterine corpus leiomyoma MONDO:0001746 optic disk drusen MONDO:0002135 DOID:13561 DOID:1891 optic nerve disorder MONDO:0001747 tibial collateral ligament bursitis MONDO:0002183 DOID:13566 DOID:204 enthesopathy MONDO:0001748 maxillary sinus carcinoma MONDO:0000380 DOID:1357 DOID:0050619 paranasal sinus carcinoma MONDO:0001749 cortical senile cataract MONDO:0004847 DOID:13574 DOID:9669 senile cataract MONDO:0001751 cholestasis MONDO:0002887 DOID:13580 DOID:4138 bile duct disorder MONDO:0001752 alveolar periostitis MONDO:0004934 DOID:13585 DOID:9957 periostitis MONDO:0001753 female infertility of uterine origin MONDO:0002654 DOID:13589 DOID:345 uterine disorder MONDO:0001756 frontal sinus cancer MONDO:0000380 DOID:1360 DOID:0050619 paranasal sinus carcinoma MONDO:0001757 frontal sinus neoplasm MONDO:0005289 DOID:1361 DOID:1350 paranasal sinus neoplasm MONDO:0001758 paranasal sinus sarcoma MONDO:0000380 DOID:1362 DOID:0050619 paranasal sinus carcinoma MONDO:0001760 photokeratitis MONDO:0003085 DOID:13626 DOID:4677 keratitis MONDO:0001761 favism MONDO:0005775 DOID:13628 DOID:2862 G6PD deficiency MONDO:0001762 dentine erosion MONDO:0002325 DOID:13629 DOID:2498 tooth erosion, non-bacterial MONDO:0001763 ethmoid sinus cancer MONDO:0000380 DOID:1363 DOID:0050619 paranasal sinus carcinoma MONDO:0001764 ethmoidal sinus neoplasm MONDO:0005289 DOID:1364 DOID:1350 paranasal sinus neoplasm MONDO:0001765 polyneuropathy in collagen vascular disease MONDO:0001824 DOID:13649 DOID:1389 polyneuropathy MONDO:0001766 eversion of lacrimal punctum MONDO:0001854 DOID:13651 DOID:1400 lacrimal apparatus disorder MONDO:0001767 stenosis of lacrimal punctum MONDO:0001854 DOID:13653 DOID:1400 lacrimal apparatus disorder MONDO:0001768 stenosis of lacrimal passage MONDO:0001854 DOID:13654 DOID:1400 lacrimal apparatus disorder MONDO:0001770 gastrin secretion abnormality MONDO:0001933 DOID:13656 DOID:1428 endocrine pancreas disorder MONDO:0001771 infective urethral stricture MONDO:0002127 DOID:13658 DOID:1829 urethral stricture MONDO:0001772 ulcer of anus and rectum MONDO:0001593 DOID:13662 DOID:1285 rectal disorder MONDO:0001773 post-vaccinal encephalitis MONDO:0019956 DOID:13664 DOID:9588 encephalitis MONDO:0001774 posterior scleritis MONDO:0001718 DOID:13676 DOID:13452 scleritis MONDO:0001775 chronic duodenal ileus MONDO:0002688 DOID:13687 DOID:3558 duodenal obstruction MONDO:0001776 prostate calculus MONDO:0003105 DOID:13689 DOID:47 prostate disorder MONDO:0001776 prostate calculus MONDO:0004828 DOID:13689 DOID:9590 lower urinary tract calculus MONDO:0001777 acute gonococcal cystitis MONDO:0001650 DOID:13690 DOID:13148 acute cystitis MONDO:0001778 dermoid cyst of skin MONDO:0002378 DOID:13691 DOID:2658 dermoid cyst MONDO:0001778 dermoid cyst of skin MONDO:0002531 DOID:13691 DOID:3165 skin neoplasm MONDO:0001779 vaginal squamous papilloma MONDO:0000647 DOID:137 DOID:0060114 benign vaginal neoplasm MONDO:0001784 malignant renovascular hypertension MONDO:0001105 DOID:13730 DOID:1073 renal hypertension MONDO:0001784 malignant renovascular hypertension MONDO:0001785 DOID:13730 DOID:13731 malignant secondary hypertension MONDO:0001785 malignant secondary hypertension MONDO:0001200 DOID:13731 DOID:11130 secondary hypertension MONDO:0001786 uterine inflammatory disease MONDO:0002654 DOID:13736 DOID:345 uterine disorder MONDO:0001787 hepatic infarction MONDO:0002405 DOID:13738 DOID:272 hepatic vascular disorder MONDO:0001788 nutmeg liver MONDO:0002405 DOID:13739 DOID:272 hepatic vascular disorder MONDO:0001789 neurofibroma of spinal cord MONDO:0016755 DOID:13742 DOID:962 neurofibroma MONDO:0001790 spinal cord lipoma MONDO:0003844 DOID:13743 DOID:6293 central nervous system lipoma MONDO:0001792 epiphora due to insufficient drainage MONDO:0001793 DOID:13756 DOID:13757 excessive tearing MONDO:0001793 excessive tearing MONDO:0001854 DOID:13757 DOID:1400 lacrimal apparatus disorder MONDO:0001794 Pthirus pubis infestation MONDO:0003472 DOID:13760 DOID:5502 lice infestation MONDO:0001797 chancroid MONDO:0000314 DOID:13778 DOID:0050338 primary bacterial infectious disease MONDO:0001798 hypermobility syndrome MONDO:0006816 DOID:13781 DOID:381 arthropathy MONDO:0001803 myringitis bullosa hemorrhagica MONDO:0003648 DOID:13791 DOID:5782 tympanic membrane disorder MONDO:0001804 anterior scleritis MONDO:0001718 DOID:13794 DOID:13452 scleritis MONDO:0001805 female breast central part cancer MONDO:0004379 DOID:13799 DOID:0050671 female breast carcinoma MONDO:0001808 chronic subinvolution of uterus MONDO:0002654 DOID:13811 DOID:345 uterine disorder MONDO:0001809 adhesions of uterus MONDO:0002654 DOID:13812 DOID:345 uterine disorder MONDO:0001811 tetanic cataract MONDO:0005129 DOID:13822 DOID:83 cataract MONDO:0001812 parasitic eyelid infestation MONDO:0004785 DOID:13823 DOID:9423 blepharitis MONDO:0001813 squamous blepharitis MONDO:0004785 DOID:13825 DOID:9423 blepharitis MONDO:0001815 extrapyramidal and movement disease MONDO:0005395 DOID:13839 DOID:480 movement disorder MONDO:0001816 scleroperikeratitis MONDO:0001718 DOID:13861 DOID:13452 scleritis MONDO:0001817 acute closed-angle glaucoma MONDO:0001868 DOID:13862 DOID:1405 primary angle-closure glaucoma MONDO:0001818 facial neuralgia MONDO:0002098 DOID:13865 DOID:1756 facial nerve disorder MONDO:0001820 focal labyrinthitis MONDO:0002008 DOID:13867 DOID:1468 labyrinthitis MONDO:0001821 hypoactive sexual desire disorder MONDO:0000947 DOID:13868 DOID:10132 psychosexual disorder MONDO:0001822 hypolipoproteinemia MONDO:0002525 DOID:1387 DOID:3146 inherited lipid metabolism disorder MONDO:0001823 sick sinus syndrome MONDO:0000469 DOID:13884 DOID:0050824 sinoatrial node disorder MONDO:0001825 squamous papilloma MONDO:0002363 DOID:139 DOID:2615 papilloma MONDO:0001828 acquired color blindness MONDO:0001703 DOID:13912 DOID:13399 color vision disorder MONDO:0001830 somatization disorder MONDO:0003117 DOID:13918 DOID:4737 somatoform disorder MONDO:0001831 irregular astigmatism MONDO:0011284 DOID:13919 DOID:11782 astigmatism MONDO:0001832 bacterial esophagitis MONDO:0001409 DOID:13921 DOID:11963 esophagitis MONDO:0001836 amenorrhea MONDO:0002263 DOID:13938 DOID:229 female reproductive system disorder MONDO:0001837 acute gonococcal salpingitis MONDO:0001173 DOID:13942 DOID:10973 acute salpingitis MONDO:0001841 uterine corpus epithelioid leiomyoma MONDO:0007886 DOID:13951 DOID:13223 uterine corpus leiomyoma MONDO:0001842 uterine corpus dissecting leiomyoma MONDO:0007886 DOID:13953 DOID:13223 uterine corpus leiomyoma MONDO:0001843 uterus interstitial leiomyoma MONDO:0007886 DOID:13955 DOID:13223 uterine corpus leiomyoma MONDO:0001844 uterine corpus myxoid leiomyoma MONDO:0007886 DOID:13956 DOID:13223 uterine corpus leiomyoma MONDO:0001845 uterine corpus lipoleiomyoma MONDO:0007886 DOID:13957 DOID:13223 uterine corpus leiomyoma MONDO:0001847 nuclear senile cataract MONDO:0004847 DOID:13963 DOID:9669 senile cataract MONDO:0001849 chronic orbital inflammation MONDO:0004751 DOID:1397 DOID:930 disease of orbital part of eye adnexa MONDO:0001850 female breast lower-outer quadrant cancer MONDO:0004379 DOID:13972 DOID:0050671 female breast carcinoma MONDO:0001851 primary lacrimal atrophy MONDO:0001854 DOID:1399 DOID:1400 lacrimal apparatus disorder MONDO:0001852 small intestine lymphoma MONDO:0000956 DOID:13996 DOID:10154 small intestine cancer MONDO:0001853 contact blepharoconjunctivitis MONDO:0002307 DOID:13999 DOID:2456 blepharoconjunctivitis MONDO:0001854 lacrimal apparatus disorder MONDO:0005328 DOID:1400 DOID:5614 eye disorder MONDO:0001855 rubeosis iridis MONDO:0005283 DOID:14000 DOID:5679 retinal disorder MONDO:0001856 splenic artery aneurysm MONDO:0000473 DOID:14006 DOID:0050828 arterial disorder MONDO:0001857 Brucella canis brucellosis MONDO:0005683 DOID:14019 DOID:11077 brucellosis MONDO:0001859 algoneurodystrophy MONDO:0019369 DOID:14022 DOID:3223 complex regional pain syndrome MONDO:0001860 folic acid deficiency anemia MONDO:0006873 DOID:14026 DOID:5113 nutritional deficiency disease MONDO:0001861 malignant parietal pleura tumor MONDO:0006294 DOID:14032 DOID:5158 pleural cancer MONDO:0001862 malignant visceral pleura tumor MONDO:0006294 DOID:14033 DOID:5158 pleural cancer MONDO:0001863 aorta atresia MONDO:0005561 DOID:14037 DOID:520 aortic disorder MONDO:0001864 residual stage angle-closure glaucoma MONDO:0001868 DOID:1404 DOID:1405 primary angle-closure glaucoma MONDO:0001866 bipolar I disorder MONDO:0004985 DOID:14042 DOID:3312 bipolar disorder MONDO:0001868 primary angle-closure glaucoma MONDO:0001744 DOID:1405 DOID:13550 angle-closure glaucoma MONDO:0001870 acute poststreptococcal glomerulonephritis MONDO:0002462 DOID:14064 DOID:2921 glomerulonephritis MONDO:0001871 acute diffuse glomerulonephritis MONDO:0003137 DOID:14066 DOID:4781 diffuse glomerulonephritis MONDO:0001873 geniculate ganglionitis MONDO:0002098 DOID:14075 DOID:1756 facial nerve disorder MONDO:0001874 toxic labyrinthitis MONDO:0002008 DOID:14081 DOID:1468 labyrinthitis MONDO:0001875 epicondylitis MONDO:0002614 DOID:14087 DOID:3342 bone inflammation disease MONDO:0001876 renal artery atheroma MONDO:0002286 DOID:14092 DOID:2388 renal artery disease MONDO:0001877 infertility due to extratesticular cause MONDO:0005372 DOID:14096 DOID:12336 male infertility MONDO:0001880 median rhomboid glossitis MONDO:0006771 DOID:14111 DOID:1456 glossitis MONDO:0001881 toxic shock syndrome MONDO:0000315 DOID:14115 DOID:0050339 commensal bacterial infectious disease MONDO:0001882 bacteriuria MONDO:0002118 DOID:1412 DOID:18 urinary system disorder MONDO:0001883 blue toe syndrome MONDO:0005568 DOID:14121 DOID:1461 cholesterol embolism MONDO:0001885 lateral cystocele MONDO:0001592 DOID:14130 DOID:1284 prolapse of female genital organ MONDO:0001886 midline cystocele MONDO:0001592 DOID:14131 DOID:1284 prolapse of female genital organ MONDO:0001887 Allen-Masters syndrome MONDO:0002263 DOID:14133 DOID:229 female reproductive system disorder MONDO:0001888 anus lymphoma MONDO:0001879 DOID:14139 DOID:14110 anus cancer MONDO:0001889 ovarian dysfunction MONDO:0005558 DOID:1414 DOID:1100 ovarian disorder MONDO:0001890 pulp erosion MONDO:0002325 DOID:14140 DOID:2498 tooth erosion, non-bacterial MONDO:0001892 spinal cord lymphoma MONDO:0003544 DOID:14150 DOID:5612 spinal cord cancer MONDO:0001893 spinal cord melanoma MONDO:0003544 DOID:14151 DOID:5612 spinal cord cancer MONDO:0001894 spinal cord sarcoma MONDO:0003544 DOID:14152 DOID:5612 spinal cord cancer MONDO:0001896 obstructive hydrocephalus MONDO:0001150 DOID:14159 DOID:10908 hydrocephalus MONDO:0001898 optic choroid disorder MONDO:0002661 DOID:1417 DOID:3480 uveal disorder MONDO:0001899 rheumatic congestive heart failure MONDO:0005009 DOID:14172 DOID:6000 congestive heart failure MONDO:0001903 calcific tendinitis MONDO:0004857 DOID:14181 DOID:971 tendinitis MONDO:0001905 bicipital tenosynovitis MONDO:0004855 DOID:14192 DOID:970 tenosynovitis MONDO:0001907 adult dermatomyositis MONDO:0016367 DOID:14202 DOID:10223 dermatomyositis MONDO:0001909 renal tubular acidosis MONDO:0006510 DOID:14219 DOID:447 renal tubular transport disease MONDO:0001910 ochronosis disorder MONDO:0003900 DOID:14223 DOID:65 connective tissue disorder MONDO:0001911 tracheal calcification MONDO:0002567 DOID:14224 DOID:3225 tracheal disorder MONDO:0001912 acute frontal sinusitis MONDO:0001121 DOID:14225 DOID:10791 frontal sinusitis MONDO:0001913 oligospermia MONDO:0005372 DOID:14228 DOID:12336 male infertility MONDO:0001915 orbital cyst MONDO:0004751 DOID:14233 DOID:930 disease of orbital part of eye adnexa MONDO:0001916 gastrointestinal tularemia MONDO:0018077 DOID:14239 DOID:2123 tularemia MONDO:0001917 chronic perichondritis of pinna MONDO:0002246 DOID:14243 DOID:222 perichondritis of auricle MONDO:0001918 epiphora due to excess lacrimation MONDO:0001793 DOID:14244 DOID:13757 excessive tearing MONDO:0001919 cystoid macular retinal degeneration MONDO:0002175 DOID:14245 DOID:2007 degeneration of macula and posterior pole MONDO:0001920 chronic purulent otitis media MONDO:0005975 DOID:14247 DOID:11506 suppurative otitis media MONDO:0001921 chronic atticoantral disease MONDO:0001920 DOID:14248 DOID:14247 chronic purulent otitis media MONDO:0001922 pyoureter MONDO:0001926 DOID:1425 DOID:1426 ureteral disorder MONDO:0001923 vitreoretinal dystrophy MONDO:0019118 DOID:14251 DOID:8501 inherited retinal dystrophy MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium MONDO:0019118 DOID:14252 DOID:8501 inherited retinal dystrophy MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses MONDO:0019118 DOID:14253 DOID:8501 inherited retinal dystrophy MONDO:0001926 ureteral disorder MONDO:0002118 DOID:1426 DOID:18 urinary system disorder MONDO:0001927 pulmonary valve insufficiency MONDO:0003628 DOID:14265 DOID:5749 pulmonary valve disorder MONDO:0001928 suppurative cholangitis MONDO:0004789 DOID:14269 DOID:9446 cholangitis MONDO:0001929 ascending cholangitis MONDO:0004789 DOID:14270 DOID:9446 cholangitis MONDO:0001930 acute cholangitis MONDO:0004789 DOID:14271 DOID:9446 cholangitis MONDO:0001931 pericholangitis MONDO:0004789 DOID:14272 DOID:9446 cholangitis MONDO:0001933 endocrine pancreas disorder MONDO:0002356 DOID:1428 DOID:26 pancreas disorder MONDO:0001935 neurogenic arthropathy MONDO:0006816 DOID:14286 DOID:381 arthropathy MONDO:0001936 brawny scleritis MONDO:0001804 DOID:14287 DOID:13794 anterior scleritis MONDO:0001938 vulvar dystrophy MONDO:0002187 DOID:14292 DOID:2059 vulvar disease MONDO:0001940 pleuropneumonia MONDO:0005249 DOID:14319 DOID:552 pneumonia MONDO:0001942 generalized anxiety disorder MONDO:0005618 DOID:14320 DOID:2030 anxiety disorder MONDO:0001943 Plasmodium malariae malaria MONDO:0005136 DOID:14324 DOID:12365 malaria MONDO:0001944 mixed malaria MONDO:0005136 DOID:14325 DOID:12365 malaria MONDO:0001945 postencephalitic Parkinson disease MONDO:0006966 DOID:14332 DOID:13548 secondary Parkinson disease MONDO:0001947 suppurative thyroiditis MONDO:0004126 DOID:14350 DOID:7166 thyroiditis MONDO:0001949 acute thyroiditis MONDO:0004126 DOID:14353 DOID:7166 thyroiditis MONDO:0001950 corneal ectasia MONDO:0000942 DOID:1436 DOID:10124 corneal disorder MONDO:0001951 Norwegian scabies MONDO:0004525 DOID:14374 DOID:8295 scabies MONDO:0001952 parietal lobe cancer MONDO:0002731 DOID:14384 DOID:368 cerebral hemisphere cancer MONDO:0001953 pyuria MONDO:0002118 DOID:1439 DOID:18 urinary system disorder MONDO:0001954 thrombophlebitis migrans MONDO:0002800 DOID:14392 DOID:3875 thrombophlebitis MONDO:0001955 protozoal dysentery MONDO:0001517 DOID:14397 DOID:12384 dysentery MONDO:0001956 capillary leak syndrome MONDO:0001574 DOID:14400 DOID:1271 capillary disorder MONDO:0001962 abnormality of glucagon secretion MONDO:0001933 DOID:14427 DOID:1428 endocrine pancreas disorder MONDO:0001964 chronic tubotympanic suppurative otitis media MONDO:0005975 DOID:14435 DOID:11506 suppurative otitis media MONDO:0001965 sclerosing keratitis MONDO:0004903 DOID:14444 DOID:9858 deep keratitis MONDO:0001966 chronic closed-angle glaucoma MONDO:0001868 DOID:14445 DOID:1405 primary angle-closure glaucoma MONDO:0001971 farmer's lung disease MONDO:0017853 DOID:14453 DOID:841 hypersensitivity pneumonitis MONDO:0001972 Brucella melitensis brucellosis MONDO:0005683 DOID:14456 DOID:11077 brucellosis MONDO:0001973 Brucella abortus brucellosis MONDO:0005683 DOID:14457 DOID:11077 brucellosis MONDO:0001975 cavernous hemangioma of orbit MONDO:0003155 DOID:14463 DOID:483 cavernous hemangioma MONDO:0001976 chorea gravidarum MONDO:0001595 DOID:14483 DOID:12859 choreatic disease MONDO:0001977 ureteral lymphoma MONDO:0005062 DOID:14489 DOID:0060058 lymphoma MONDO:0001977 ureteral lymphoma MONDO:0008627 DOID:14489 DOID:11819 ureter cancer MONDO:0001978 regional ureteric cancer MONDO:0006481 DOID:14491 DOID:4939 ureter carcinoma MONDO:0001979 dumping syndrome MONDO:0004566 DOID:14495 DOID:8439 postgastrectomy syndrome MONDO:0001982 Niemann-Pick disease MONDO:0019255 DOID:14504 DOID:1927 sphingolipidosis MONDO:0001983 peripheral degeneration of cornea MONDO:0001515 DOID:14507 DOID:1237 corneal degeneration MONDO:0001984 candidal paronychia MONDO:0002026 DOID:14512 DOID:1508 candidiasis MONDO:0001985 partial arterial retinal occlusion MONDO:0006948 DOID:14522 DOID:8483 retinal artery occlusion MONDO:0001986 Argyll Robertson pupil MONDO:0001303 DOID:14523 DOID:11518 abnormal pupillary function MONDO:0001988 external pathological resorption MONDO:0001670 DOID:14529 DOID:13240 tooth resorption MONDO:0001989 atrophic glossitis MONDO:0006771 DOID:1453 DOID:1456 glossitis MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm MONDO:0017827 DOID:14534 DOID:5940 malignant peripheral nerve sheath tumor MONDO:0001991 malignant cardiac germ cell tumor MONDO:0001340 DOID:14535 DOID:117 heart cancer MONDO:0001992 rete testis adenocarcinoma MONDO:0003562 DOID:14544 DOID:5639 rete testis neoplasm MONDO:0001992 rete testis adenocarcinoma MONDO:0004970 DOID:14544 DOID:299 adenocarcinoma MONDO:0001993 seminal vesicle adenocarcinoma MONDO:0004970 DOID:14545 DOID:299 adenocarcinoma MONDO:0001994 sphenoidal sinus cancer MONDO:0000380 DOID:14546 DOID:0050619 paranasal sinus carcinoma MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0001994 DOID:14547 DOID:14546 sphenoidal sinus cancer MONDO:0001996 steroid-induced glaucoma - borderline MONDO:0004744 DOID:14548 DOID:9283 borderline glaucoma MONDO:0001997 root resorption MONDO:0001670 DOID:14550 DOID:13240 tooth resorption MONDO:0001999 primary pulmonary hypertension MONDO:0001493 DOID:14557 DOID:12326 chronic pulmonary heart disease MONDO:0002000 anaerobic meningitis MONDO:0006670 DOID:14559 DOID:9470 bacterial meningitis MONDO:0002002 postsurgical hypothyroidism MONDO:0005420 DOID:1458 DOID:1459 hypothyroidism MONDO:0002004 atheroembolism of kidney MONDO:0005240 DOID:1460 DOID:557 kidney disorder MONDO:0002004 atheroembolism of kidney MONDO:0005568 DOID:1460 DOID:1461 cholesterol embolism MONDO:0002006 serous labyrinthitis MONDO:0002008 DOID:1467 DOID:1468 labyrinthitis MONDO:0002008 labyrinthitis MONDO:0002467 DOID:3930 DOID:2952 inner ear disorder MONDO:0002009 major depressive disorder MONDO:0002050 DOID:1470 DOID:1596 depressive disorder MONDO:0002010 FG syndrome MONDO:0002254 DOID:14711 DOID:225 syndromic disease MONDO:0002012 methylmalonic acidemia MONDO:0000688 DOID:14749 DOID:0060159 inborn organic aciduria MONDO:0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type MONDO:0006025 DOID:14759 DOID:0050737 autosomal recessive disease MONDO:0002017 olivopontocerebellar atrophy MONDO:0005559 DOID:14784 DOID:1289 neurodegenerative disease MONDO:0002021 gingival disorder MONDO:0002635 DOID:1483 DOID:3388 periodontal disorder MONDO:0002026 candidiasis MONDO:0002312 DOID:1508 DOID:2473 opportunistic mycosis MONDO:0002027 avoidant personality disorder MONDO:0002028 DOID:1509 DOID:1510 personality disorder MONDO:0002028 personality disorder MONDO:0002025 DOID:1510 DOID:150 psychiatric disorder MONDO:0002029 chronic gonorrhea of cervix MONDO:0002030 DOID:1512 DOID:1513 chronic cervicitis MONDO:0002030 chronic cervicitis MONDO:0002345 DOID:1513 DOID:2568 cervicitis MONDO:0002032 colon carcinoma MONDO:0021063 DOID:1520 DOID:219 malignant colon neoplasm MONDO:0002034 cecum lymphoma MONDO:0002033 DOID:1522 DOID:1521 cecum cancer MONDO:0002035 colon lymphoma MONDO:0021063 DOID:1523 DOID:219 malignant colon neoplasm MONDO:0002036 penile disorder MONDO:0003150 DOID:1529 DOID:48 male reproductive system disorder MONDO:0002037 pleural disorder MONDO:0000270 DOID:1532 DOID:0050161 lower respiratory tract disorder MONDO:0002038 head and neck carcinoma MONDO:0004993 DOID:1542 DOID:305 carcinoma MONDO:0002038 head and neck carcinoma MONDO:0005627 DOID:1542 DOID:11934 head and neck cancer MONDO:0002039 cognitive disorder MONDO:0002025 DOID:1561 DOID:150 psychiatric disorder MONDO:0002040 dermatomycosis MONDO:0000254 DOID:1563 DOID:0050134 cutaneous mycosis MONDO:0002041 fungal infectious disease MONDO:0005550 DOID:1564 DOID:0050117 infectious disease MONDO:0002042 mechanical ectropion MONDO:0002043 DOID:1569 DOID:1570 ectropion MONDO:0002043 ectropion MONDO:0003382 DOID:1570 DOID:530 eyelid disorder MONDO:0002044 spastic ectropion MONDO:0002043 DOID:1571 DOID:1570 ectropion MONDO:0002045 communicating hydrocephalus MONDO:0001150 DOID:1573 DOID:10908 hydrocephalus MONDO:0002046 alcohol abuse MONDO:0002491 DOID:1574 DOID:302 substance abuse MONDO:0002047 pulmonary systemic sclerosis MONDO:0005100 DOID:1578 DOID:418 systemic sclerosis MONDO:0002047 pulmonary systemic sclerosis MONDO:0005275 DOID:1578 DOID:850 lung disorder MONDO:0002048 thrombocytopenia due to immune destruction MONDO:0002049 DOID:1587 DOID:1588 thrombocytopenia MONDO:0002050 depressive disorder MONDO:0005371 DOID:1596 DOID:3324 mood disorder MONDO:0002052 lymphadenitis MONDO:0004928 DOID:1602 DOID:9942 lymph node disorder MONDO:0002055 benign eccrine breast spiradenoma MONDO:0000620 DOID:1616 DOID:0060082 breast benign neoplasm MONDO:0002056 breast fibroadenoma MONDO:0000620 DOID:1618 DOID:0060082 breast benign neoplasm MONDO:0002057 breast leiomyoma MONDO:0000620 DOID:1623 DOID:0060082 breast benign neoplasm MONDO:0002058 breast adenoma MONDO:0000620 DOID:1625 DOID:0060082 breast benign neoplasm MONDO:0002058 breast adenoma MONDO:0004972 DOID:1625 DOID:657 adenoma MONDO:0002060 intraductal papilloma MONDO:0002363 DOID:1627 DOID:2615 papilloma MONDO:0002061 intraductal papillary breast neoplasm MONDO:0002488 DOID:1628 DOID:3013 intraductal breast neoplasm MONDO:0002062 breast myofibroblastoma MONDO:0000620 DOID:1629 DOID:0060082 breast benign neoplasm MONDO:0002064 breast angiomatosis MONDO:0001574 DOID:1637 DOID:1271 capillary disorder MONDO:0002064 breast angiomatosis MONDO:0002657 DOID:1637 DOID:3463 breast disorder MONDO:0002065 benign breast adenomyoepithelioma MONDO:0000620 DOID:1641 DOID:0060082 breast benign neoplasm MONDO:0002066 breast adenomyoepithelioma MONDO:0002483 DOID:1642 DOID:3004 breast myoepithelial tumor MONDO:0002067 female breast upper-inner quadrant cancer MONDO:0004379 DOID:1647 DOID:0050671 female breast carcinoma MONDO:0002068 female breast lower-inner quadrant cancer MONDO:0004379 DOID:1649 DOID:0050671 female breast carcinoma MONDO:0002069 female breast axillary tail cancer MONDO:0004379 DOID:1650 DOID:0050671 female breast carcinoma MONDO:0002070 ventricular septal defect MONDO:0002078 DOID:1657 DOID:1681 heart septal defect MONDO:0002071 supratentorial cancer MONDO:0001657 DOID:1659 DOID:1319 brain cancer MONDO:0002073 malignant pineal area germ cell neoplasm MONDO:0003249 DOID:1660 DOID:5032 pineal gland cancer MONDO:0002074 Behcet syndrome arthropathy MONDO:0006816 DOID:1670 DOID:381 arthropathy MONDO:0002075 spontaneous tension pneumothorax MONDO:0002076 DOID:1672 DOID:1673 pneumothorax MONDO:0002076 pneumothorax MONDO:0002037 DOID:1673 DOID:1532 pleural disorder MONDO:0002077 low implantation of placenta MONDO:0005918 DOID:1677 DOID:11060 placenta praevia MONDO:0002078 heart septal defect MONDO:0005453 DOID:1681 DOID:1682 congenital heart disease MONDO:0002085 benign shuddering attacks MONDO:0005395 DOID:1713 DOID:480 movement disorder MONDO:0002087 peritoneum cancer MONDO:0004992 DOID:1725 DOID:0050686 cancer MONDO:0002088 partial retinal vein occlusion MONDO:0006951 DOID:1726 DOID:1727 retinal vein occlusion MONDO:0002089 retinal vascular occlusion MONDO:0002311 DOID:1729 DOID:2462 retinal vascular disorder MONDO:0002090 eccrine sweat gland neoplasm MONDO:0002381 DOID:173 DOID:2664 sweat gland neoplasm MONDO:0002092 small intestine leiomyoma MONDO:0001572 DOID:1738 DOID:127 leiomyoma MONDO:0002095 vascular cancer MONDO:0002100 DOID:175 DOID:176 cardiovascular cancer MONDO:0002096 malignant conjunctival melanoma MONDO:0003454 DOID:1751 DOID:5467 conjunctival cancer MONDO:0002098 facial nerve disorder MONDO:0003569 DOID:1756 DOID:5656 cranial nerve neuropathy MONDO:0002099 Histoplasma capsulatum infectious disease MONDO:0018312 DOID:1759 DOID:1731 histoplasmosis MONDO:0002100 cardiovascular cancer MONDO:0004992 DOID:176 DOID:0050686 cancer MONDO:0002102 cheilitis MONDO:0004748 DOID:1762 DOID:9297 lip disorder MONDO:0002103 factitious disorder MONDO:0002025 DOID:1766 DOID:150 psychiatric disorder MONDO:0002104 conversion disorder MONDO:0003117 DOID:1768 DOID:4737 somatoform disorder MONDO:0002105 toxic megacolon MONDO:0001273 DOID:1770 DOID:11372 megacolon MONDO:0002108 thyroid cancer MONDO:0021069 DOID:1781 DOID:170 malignant endocrine neoplasm MONDO:0002109 pituitary cancer MONDO:0021069 DOID:1785 DOID:170 malignant endocrine neoplasm MONDO:0002112 benign peritoneal mesothelioma MONDO:0000650 DOID:1789 DOID:0060117 peritoneal benign neoplasm MONDO:0002113 peritoneal carcinoma MONDO:0002087 DOID:1791 DOID:1725 peritoneum cancer MONDO:0002113 peritoneal carcinoma MONDO:0004993 DOID:1791 DOID:305 carcinoma MONDO:0002114 pancreas lymphoma MONDO:0009831 DOID:1792 DOID:1793 malignant pancreatic neoplasm MONDO:0002116 malignant exocrine pancreas neoplasm MONDO:0009831 DOID:1795 DOID:1793 malignant pancreatic neoplasm MONDO:0002117 pancreas sarcoma MONDO:0009831 DOID:1796 DOID:1793 malignant pancreatic neoplasm MONDO:0002119 ossifying fibroma MONDO:0000631 DOID:180 DOID:0060094 bone benign neoplasm MONDO:0002120 neuroendocrine carcinoma MONDO:0004993 DOID:1800 DOID:305 carcinoma MONDO:0002121 mononeuritis simplex MONDO:0001397 DOID:1802 DOID:1188 mononeuropathy MONDO:0002122 neuritis MONDO:0005244 DOID:1803 DOID:870 peripheral neuropathy MONDO:0002123 calcinosis MONDO:0005557 DOID:182 DOID:10575 calcium metabolic disease MONDO:0002124 secondary lacrimal atrophy MONDO:0001854 DOID:1822 DOID:1400 lacrimal apparatus disorder MONDO:0002127 urethral stricture MONDO:0001556 DOID:1829 DOID:12577 urethral obstruction MONDO:0002128 mononeuritis multiplex MONDO:0003607 DOID:1835 DOID:572 neuritis of upper limb MONDO:0002130 upper limb mononeuronitis MONDO:0003607 DOID:1844 DOID:572 neuritis of upper limb MONDO:0002132 skull cancer MONDO:0002129 DOID:1863 DOID:184 bone cancer MONDO:0002135 optic nerve disorder MONDO:0003569 DOID:1891 DOID:5656 cranial nerve neuropathy MONDO:0002136 eczematous dermatitis of eyelid MONDO:0002137 DOID:1893 DOID:1894 noninfectious dermatoses of eyelid MONDO:0002137 noninfectious dermatoses of eyelid MONDO:0004785 DOID:1894 DOID:9423 blepharitis MONDO:0002138 allergic contact dermatitis of eyelid MONDO:0002137 DOID:1895 DOID:1894 noninfectious dermatoses of eyelid MONDO:0002139 sigmoid disease MONDO:0003409 DOID:1897 DOID:5353 colonic disorder MONDO:0002140 vagina sarcoma MONDO:0001402 DOID:1901 DOID:119 vaginal cancer MONDO:0002145 disorder of sexual differentiation MONDO:0002259 DOID:1923 DOID:2277 gonadal disorder MONDO:0002146 hypogonadism MONDO:0002259 DOID:1924 DOID:2277 gonadal disorder MONDO:0002149 reproductive system cancer MONDO:0004992 DOID:193 DOID:0050686 cancer MONDO:0002152 intermittent squint MONDO:0003432 DOID:1942 DOID:540 strabismus MONDO:0002153 telogen effluvium MONDO:0004907 DOID:1943 DOID:987 alopecia MONDO:0002154 trichomoniasis MONDO:0002428 DOID:1947 DOID:2789 protozoa infectious disease MONDO:0002155 cholecystitis MONDO:0004789 DOID:1949 DOID:9446 cholangitis MONDO:0002156 fallopian tube disorder MONDO:0002263 DOID:1962 DOID:229 female reproductive system disorder MONDO:0002158 fallopian tube cancer MONDO:0001416 DOID:1964 DOID:120 female reproductive organ cancer MONDO:0002159 fallopian tube leiomyosarcoma MONDO:0002158 DOID:1965 DOID:1964 fallopian tube cancer MONDO:0002159 fallopian tube leiomyosarcoma MONDO:0005058 DOID:1965 DOID:1967 leiomyosarcoma MONDO:0002163 thymus lipoma MONDO:0005106 DOID:1975 DOID:3315 lipoma MONDO:0002164 focal chorioretinitis MONDO:0004674 DOID:1979 DOID:8886 chorioretinitis MONDO:0002166 rectum lymphoma MONDO:0006519 DOID:1988 DOID:1993 rectal cancer MONDO:0002167 rectum malignant melanoma MONDO:0006519 DOID:1992 DOID:1993 rectal cancer MONDO:0002168 rectum sarcoma MONDO:0005089 DOID:1995 DOID:1115 sarcoma MONDO:0002168 rectum sarcoma MONDO:0006519 DOID:1995 DOID:1993 rectal cancer MONDO:0002170 chronic eustachian salpingitis MONDO:0002172 DOID:1999 DOID:2000 otosalpingitis MONDO:0002172 otosalpingitis MONDO:0004866 DOID:2000 DOID:9739 eustachian tube disorder MONDO:0002174 preretinal fibrosis MONDO:0002175 DOID:2006 DOID:2007 degeneration of macula and posterior pole MONDO:0002175 degeneration of macula and posterior pole MONDO:0003004 DOID:2007 DOID:4448 macular degeneration MONDO:0002177 hyperinsulinism MONDO:0002908 DOID:2018 DOID:4194 glucose metabolism disease MONDO:0002178 placenta cancer MONDO:0002715 DOID:2021 DOID:363 uterine cancer MONDO:0002181 exostosis MONDO:0002185 DOID:203 DOID:205 hyperostosis MONDO:0002182 communication disorder MONDO:0000592 DOID:2033 DOID:0060038 specific developmental disorder MONDO:0002183 enthesopathy MONDO:0003900 DOID:204 DOID:65 connective tissue disorder MONDO:0002184 drug-induced hepatitis MONDO:0002251 DOID:2044 DOID:2237 hepatitis MONDO:0002185 hyperostosis MONDO:0000833 DOID:205 DOID:0080005 bone remodeling disease MONDO:0002186 acute maxillary sinusitis MONDO:0005842 DOID:2050 DOID:2051 maxillary sinusitis MONDO:0002187 vulvar disease MONDO:0002263 DOID:2059 DOID:229 female reproductive system disorder MONDO:0002188 vulvar nodular hidradenoma MONDO:0000643 DOID:2060 DOID:0060109 vulvar benign neoplasm MONDO:0002189 nodular hidradenoma MONDO:0002805 DOID:2061 DOID:3896 hidradenoma MONDO:0002190 vulvar syringoma MONDO:0000643 DOID:2064 DOID:0060109 vulvar benign neoplasm MONDO:0002191 syringoma MONDO:0002381 DOID:2065 DOID:2664 sweat gland neoplasm MONDO:0002192 vulvar angiokeratoma MONDO:0000643 DOID:2066 DOID:0060109 vulvar benign neoplasm MONDO:0002193 Bartholin gland benign neoplasm MONDO:0000626 DOID:2068 DOID:0060088 vestibular gland benign neoplasm MONDO:0002194 vestibular papilloma MONDO:0002195 DOID:2071 DOID:2072 vulvar squamous neoplasm MONDO:0002196 perinatal intestinal perforation MONDO:0006807 DOID:2073 DOID:2074 intestinal perforation MONDO:0002197 minor vestibular glands adenoma MONDO:0000626 DOID:2075 DOID:0060088 vestibular gland benign neoplasm MONDO:0002197 minor vestibular glands adenoma MONDO:0004972 DOID:2075 DOID:657 adenoma MONDO:0002199 benign mixed tumor of the vulva MONDO:0000643 DOID:2078 DOID:0060109 vulvar benign neoplasm MONDO:0002200 eccrine mixed tumor of skin MONDO:0002090 DOID:2079 DOID:173 eccrine sweat gland neoplasm MONDO:0002201 vulvar trichoepithelioma MONDO:0000643 DOID:2080 DOID:0060109 vulvar benign neoplasm MONDO:0002205 vulvar melanoma MONDO:0001528 DOID:2093 DOID:1245 vulva cancer MONDO:0002206 sweat gland cancer MONDO:0002898 DOID:2095 DOID:4159 skin cancer MONDO:0002207 vulval Paget disease MONDO:0024336 DOID:2097 DOID:2098 vulvar adenocarcinoma MONDO:0002209 heel spur MONDO:0002181 DOID:210 DOID:203 exostosis MONDO:0002211 B cell deficiency MONDO:0003778 DOID:2115 DOID:612 inborn error of immunity MONDO:0002212 pneumonic tularemia MONDO:0018077 DOID:2122 DOID:2123 tularemia MONDO:0002214 brain germinoma MONDO:0001657 DOID:2127 DOID:1319 brain cancer MONDO:0002216 brain sarcoma MONDO:0001657 DOID:2132 DOID:1319 brain cancer MONDO:0002217 central nervous system sarcoma MONDO:0002714 DOID:2133 DOID:3620 central nervous system cancer MONDO:0002218 temporal lobe cancer MONDO:0002731 DOID:2135 DOID:368 cerebral hemisphere cancer MONDO:0002220 tooth hard tissue disease MONDO:0006999 DOID:214 DOID:1091 tooth disorder MONDO:0002221 urethral urothelial papilloma MONDO:0004177 DOID:2140 DOID:730 benign urethral neoplasm MONDO:0002222 urethra leiomyoma MONDO:0001572 DOID:2142 DOID:127 leiomyoma MONDO:0002222 urethra leiomyoma MONDO:0004177 DOID:2142 DOID:730 benign urethral neoplasm MONDO:0002223 ovarian malignant mesothelioma MONDO:0006292 DOID:2143 DOID:1790 malignant mesothelioma MONDO:0002223 ovarian malignant mesothelioma MONDO:0008170 DOID:2143 DOID:2394 ovarian cancer MONDO:0002224 malignant ovarian cyst MONDO:0008170 DOID:2145 DOID:2394 ovarian cancer MONDO:0002225 ovarian sarcoma MONDO:0008170 DOID:2146 DOID:2394 ovarian cancer MONDO:0002226 tuberculous oophoritis MONDO:0006002 DOID:2148 DOID:2149 urogenital tuberculosis MONDO:0002227 ovarian lymphoma MONDO:0005062 DOID:2150 DOID:0060058 lymphoma MONDO:0002227 ovarian lymphoma MONDO:0008170 DOID:2150 DOID:2394 ovarian cancer MONDO:0002230 ovarian Wilms tumor MONDO:0008170 DOID:2153 DOID:2394 ovarian cancer MONDO:0002232 nasal cavity disorder MONDO:0002436 DOID:2163 DOID:2825 nasal disorder MONDO:0002233 enamel caries MONDO:0005276 DOID:217 DOID:216 dental caries MONDO:0002234 vaginitis MONDO:0001433 DOID:2170 DOID:121 vaginal disorder MONDO:0002235 eyelid neoplasm MONDO:0002531 DOID:2173 DOID:3165 skin neoplasm MONDO:0002235 eyelid neoplasm MONDO:0003382 DOID:2173 DOID:530 eyelid disorder MONDO:0002236 ocular cancer MONDO:0000649 DOID:2174 DOID:0060116 sensory system cancer MONDO:0002237 carbuncle MONDO:0002922 DOID:2176 DOID:4223 pyoderma MONDO:0002238 ascending colon cancer MONDO:0021063 DOID:218 DOID:219 malignant colon neoplasm MONDO:0002239 post-surgical hypoinsulinemia MONDO:0001933 DOID:2181 DOID:1428 endocrine pancreas disorder MONDO:0002240 acute perichondritis of pinna MONDO:0002246 DOID:221 DOID:222 perichondritis of auricle MONDO:0002246 perichondritis of auricle MONDO:0004795 DOID:222 DOID:9463 otitis externa MONDO:0002250 basilar artery insufficiency MONDO:0000473 DOID:223 DOID:0050828 arterial disorder MONDO:0002250 basilar artery insufficiency MONDO:0002254 DOID:223 DOID:225 syndromic disease MONDO:0002251 hepatitis MONDO:0005154 DOID:2237 DOID:409 liver disorder MONDO:0002252 granulomatous hepatitis MONDO:0002251 DOID:2239 DOID:2237 hepatitis MONDO:0002253 spondylosis MONDO:0000836 DOID:2247 DOID:0080010 disease of bone structure MONDO:0002255 hypertrophic elongation of cervix MONDO:0002256 DOID:2251 DOID:2253 cervix disorder MONDO:0002256 cervix disorder MONDO:0002654 DOID:2253 DOID:345 uterine disorder MONDO:0002257 ankylosis MONDO:0006816 DOID:227 DOID:381 arthropathy MONDO:0002258 pharyngitis MONDO:0004867 DOID:2275 DOID:974 upper respiratory tract disorder MONDO:0002259 gonadal disorder MONDO:0005151 DOID:2277 DOID:28 endocrine system disorder MONDO:0002261 keratopathy MONDO:0000942 DOID:2283 DOID:10124 corneal disorder MONDO:0002262 capillary lymphangioma MONDO:0001574 DOID:2286 DOID:1271 capillary disorder MONDO:0002262 capillary lymphangioma MONDO:0002013 DOID:2286 DOID:1475 lymphangioma MONDO:0002263 female reproductive system disorder MONDO:0005039 DOID:229 DOID:15 reproductive system disorder MONDO:0002265 stereotypic movement disorder MONDO:0000592 DOID:2303 DOID:0060038 specific developmental disorder MONDO:0002266 malt worker's lung MONDO:0017853 DOID:2314 DOID:841 hypersensitivity pneumonitis MONDO:0002267 obstructive lung disease MONDO:0005275 DOID:2320 DOID:850 lung disorder MONDO:0002270 viral gastritis MONDO:0004966 DOID:2327 DOID:4029 gastritis MONDO:0002270 viral gastritis MONDO:0005108 DOID:2327 DOID:934 viral infectious disease MONDO:0002271 colon adenocarcinoma MONDO:0002032 DOID:234 DOID:1520 colon carcinoma MONDO:0002272 polyclonal hypergammaglobulinemia MONDO:0002273 DOID:2344 DOID:2345 plasma protein metabolism disease MONDO:0002273 plasma protein metabolism disease MONDO:0019052 DOID:2345 DOID:655 inborn errors of metabolism MONDO:0002274 monoclonal paraproteinemia disease MONDO:0002273 DOID:2346 DOID:2345 plasma protein metabolism disease MONDO:0002275 generalized atherosclerosis MONDO:0005311 DOID:2347 DOID:1936 atherosclerosis MONDO:0002277 arteriosclerosis disorder MONDO:0000473 DOID:2349 DOID:0050828 arterial disorder MONDO:0002280 anemia MONDO:0005570 DOID:2355 DOID:74 hematologic disorder MONDO:0002281 macrocytic anemia MONDO:0002280 DOID:2361 DOID:2355 anemia MONDO:0002287 glandular cystitis MONDO:0006030 DOID:2392 DOID:1680 chronic cystitis MONDO:0002289 iris disorder MONDO:0002661 DOID:240 DOID:3480 uveal disorder MONDO:0002290 clitoris cancer MONDO:0001528 DOID:2401 DOID:1245 vulva cancer MONDO:0002295 skin glomus tumor MONDO:0018327 DOID:2430 DOID:2431 glomus tumor MONDO:0002297 epidermal appendage tumor MONDO:0002531 DOID:2433 DOID:3165 skin neoplasm MONDO:0002298 cutaneous glomangioma MONDO:0002299 DOID:2435 DOID:2436 glomangioma MONDO:0002300 dermis tumor MONDO:0002531 DOID:2438 DOID:3165 skin neoplasm MONDO:0002301 frontal sinus squamous cell carcinoma MONDO:0001756 DOID:2441 DOID:1360 frontal sinus cancer MONDO:0002303 central retinal vein occlusion MONDO:0006951 DOID:2450 DOID:1727 retinal vein occlusion MONDO:0002304 protein S deficiency MONDO:0002305 DOID:2451 DOID:2452 thrombophilia MONDO:0002305 thrombophilia MONDO:0001531 DOID:2452 DOID:1247 blood coagulation disease MONDO:0002306 angular blepharoconjunctivitis MONDO:0002307 DOID:2455 DOID:2456 blepharoconjunctivitis MONDO:0002307 blepharoconjunctivitis MONDO:0004785 DOID:2456 DOID:9423 blepharitis MONDO:0002308 giant papillary conjunctivitis MONDO:0002309 DOID:2457 DOID:2458 papillary conjunctivitis MONDO:0002309 papillary conjunctivitis MONDO:0003799 DOID:2458 DOID:6195 conjunctivitis MONDO:0002310 anterior dislocation of lens MONDO:0005328 DOID:2460 DOID:1242 eye disorder MONDO:0002311 retinal vascular disorder MONDO:0005283 DOID:2462 DOID:5679 retinal disorder MONDO:0002313 vernal conjunctivitis MONDO:0002314 DOID:2474 DOID:2475 chronic conjunctivitis MONDO:0002314 chronic conjunctivitis MONDO:0003799 DOID:2475 DOID:6195 conjunctivitis MONDO:0002316 motor peripheral neuropathy MONDO:0005244 DOID:2477 DOID:870 peripheral neuropathy MONDO:0002317 central nervous system origin vertigo MONDO:0005560 DOID:2479 DOID:936 brain disorder MONDO:0002318 trachea leiomyoma MONDO:0001572 DOID:248 DOID:127 leiomyoma MONDO:0002320 congenital nervous system disorder MONDO:0005071 DOID:2490 DOID:863 nervous system disorder MONDO:0002321 sensory peripheral neuropathy MONDO:0005244 DOID:2491 DOID:870 peripheral neuropathy MONDO:0002322 angiodysplasia MONDO:0005385 DOID:2494 DOID:178 vascular disorder MONDO:0002327 intracranial cavernous angioma MONDO:0002328 DOID:2516 DOID:2517 intracranial hemangioma MONDO:0002329 testicular disorder MONDO:0002259 DOID:2519 DOID:2277 gonadal disorder MONDO:0002329 testicular disorder MONDO:0003150 DOID:2519 DOID:48 male reproductive system disorder MONDO:0002330 alcoholic psychosis MONDO:0002326 DOID:252 DOID:251 alcohol-induced mental disorder MONDO:0002332 splenic disorder MONDO:0005833 DOID:2529 DOID:75 lymphatic system disorder MONDO:0002333 splenic abscess MONDO:0002332 DOID:2530 DOID:2529 splenic disorder MONDO:0002334 hematopoietic and lymphoid system neoplasm MONDO:0005570 DOID:2531 DOID:74 hematologic disorder MONDO:0002337 intra-abdominal hemangioma MONDO:0006500 DOID:254 DOID:255 hemangioma MONDO:0002338 extratemporal epilepsy MONDO:0005027 DOID:2544 DOID:1826 epilepsy MONDO:0002340 tactile epilepsy MONDO:0017768 DOID:2550 DOID:2548 reflex epilepsy MONDO:0002342 chondromalacia MONDO:0003816 DOID:2557 DOID:6227 articular cartilage disorder MONDO:0002345 cervicitis MONDO:0002256 DOID:2568 DOID:2253 cervix disorder MONDO:0002347 barbiturate dependence MONDO:0005303 DOID:2575 DOID:9974 drug dependence MONDO:0002350 familial nephrotic syndrome MONDO:0005377 DOID:2590 DOID:1184 nephrotic syndrome MONDO:0002351 glottis cancer MONDO:0002352 DOID:2595 DOID:2596 larynx cancer MONDO:0002352 larynx cancer MONDO:0000376 DOID:2596 DOID:0050615 respiratory system cancer MONDO:0002354 benign laryngeal neoplasm MONDO:0000382 DOID:2598 DOID:0050621 respiratory system benign neoplasm MONDO:0002355 glottis carcinoma MONDO:0002351 DOID:2599 DOID:2595 glottis cancer MONDO:0002356 pancreas disorder MONDO:0005151 DOID:26 DOID:28 endocrine system disorder MONDO:0002357 hepatic flexure cancer MONDO:0002238 DOID:260 DOID:218 ascending colon cancer MONDO:0002358 laryngeal carcinoma MONDO:0002352 DOID:2600 DOID:2596 larynx cancer MONDO:0002358 laryngeal carcinoma MONDO:0004993 DOID:2600 DOID:305 carcinoma MONDO:0002359 periosteal chondroma MONDO:0002360 DOID:2601 DOID:2602 chondroma MONDO:0002361 transverse colon cancer MONDO:0021063 DOID:261 DOID:219 malignant colon neoplasm MONDO:0002362 serous surface papilloma MONDO:0002363 DOID:2614 DOID:2615 papilloma MONDO:0002366 autonomic nervous system neoplasm MONDO:0001406 DOID:2621 DOID:1192 peripheral nervous system neoplasm MONDO:0002367 kidney cancer MONDO:0006295 DOID:263 DOID:3996 malignant urinary system neoplasm MONDO:0002369 cystadenoma MONDO:0004972 DOID:2634 DOID:657 adenoma MONDO:0002371 breast pericanalicular fibroadenoma MONDO:0002056 DOID:2639 DOID:1618 breast fibroadenoma MONDO:0002372 ovarian monodermal and highly specialized teratoma MONDO:0003331 DOID:2641 DOID:5207 ovarian monodermal teratoma MONDO:0002375 sebaceous adenoma MONDO:0006963 DOID:2648 DOID:5759 sebaceous gland neoplasm MONDO:0002376 spleen angiosarcoma MONDO:0005966 DOID:265 DOID:672 spleen cancer MONDO:0002376 spleen angiosarcoma MONDO:0016982 DOID:265 DOID:0001816 angiosarcoma MONDO:0002377 breast intracanalicular fibroadenoma MONDO:0002056 DOID:2656 DOID:1618 breast fibroadenoma MONDO:0002378 dermoid cyst MONDO:0002379 DOID:2658 DOID:2660 cystic teratoma MONDO:0002381 sweat gland neoplasm MONDO:0006615 DOID:2664 DOID:1383 sweat gland disorder MONDO:0002383 Pacinian tumor MONDO:0016755 DOID:2669 DOID:962 neurofibroma MONDO:0002387 liver angiosarcoma MONDO:0002405 DOID:268 DOID:272 hepatic vascular disorder MONDO:0002387 liver angiosarcoma MONDO:0016982 DOID:268 DOID:0001816 angiosarcoma MONDO:0002395 renal adenoma MONDO:0002513 DOID:2697 DOID:3116 kidney benign neoplasm MONDO:0002395 renal adenoma MONDO:0004972 DOID:2697 DOID:657 adenoma MONDO:0002396 nephrogenic adenofibroma MONDO:0002513 DOID:2698 DOID:3116 kidney benign neoplasm MONDO:0002397 liver sarcoma MONDO:0002691 DOID:270 DOID:3571 liver cancer MONDO:0002398 mucinous adenofibroma MONDO:0006071 DOID:2700 DOID:2683 adenofibroma MONDO:0002400 synovitis MONDO:0003900 DOID:2703 DOID:65 connective tissue disorder MONDO:0002401 malignant tenosynovial giant cell tumor MONDO:0002403 DOID:2704 DOID:2706 synovium cancer MONDO:0002404 liver hemangioma MONDO:0024477 DOID:271 DOID:916 liver and intrahepatic bile duct neoplasm MONDO:0002405 hepatic vascular disorder MONDO:0005154 DOID:272 DOID:409 liver disorder MONDO:0002405 hepatic vascular disorder MONDO:0005385 DOID:272 DOID:178 vascular disorder MONDO:0002406 dermatitis MONDO:0005093 DOID:2723 DOID:37 skin disorder MONDO:0002407 capillary hemangioma MONDO:0006500 DOID:2725 DOID:255 hemangioma MONDO:0002410 pyeloureteritis cystica MONDO:0006938 DOID:2743 DOID:2744 pyelitis MONDO:0002411 narcissistic personality disorder MONDO:0002028 DOID:2745 DOID:1510 personality disorder MONDO:0002412 disorder of glycogen metabolism MONDO:0019214 DOID:0050728 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0002413 glycogen storage disease I MONDO:0002412 DOID:0081329 DOID:2747 disorder of glycogen metabolism MONDO:0002415 bone carcinoma MONDO:0002129 DOID:2762 DOID:184 bone cancer MONDO:0002415 bone carcinoma MONDO:0004993 DOID:2762 DOID:305 carcinoma MONDO:0002416 ethmoid sinus squamous cell carcinoma MONDO:0001763 DOID:2763 DOID:1363 ethmoid sinus cancer MONDO:0002418 ethmoid sinus adenocarcinoma MONDO:0001763 DOID:2766 DOID:1363 ethmoid sinus cancer MONDO:0002418 ethmoid sinus adenocarcinoma MONDO:0004970 DOID:2766 DOID:299 adenocarcinoma MONDO:0002419 transient tic disorder MONDO:0002420 DOID:2768 DOID:2769 tic disorder MONDO:0002420 tic disorder MONDO:0000592 DOID:2769 DOID:0060038 specific developmental disorder MONDO:0002423 rectosigmoid junction neoplasm MONDO:0006971 DOID:2780 DOID:1896 sigmoid neoplasm MONDO:0002424 rectosigmoid carcinoma MONDO:0002425 DOID:2781 DOID:2782 rectosigmoid junction cancer MONDO:0002425 rectosigmoid junction cancer MONDO:0001464 DOID:2782 DOID:12192 sigmoid colon cancer MONDO:0002426 lung sarcoma MONDO:0008903 DOID:2784 DOID:1324 lung cancer MONDO:0002427 cerebellar disorder MONDO:0005560 DOID:2786 DOID:936 brain disorder MONDO:0002428 protozoa infectious disease MONDO:0005135 DOID:2789 DOID:1398 parasitic infectious disease MONDO:0002429 idiopathic interstitial pneumonia MONDO:0005249 DOID:2797 DOID:552 pneumonia MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0002433 DOID:2814 DOID:2815 malignant cranial nerve neoplasm MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0004532 DOID:2814 DOID:833 auditory system cancer MONDO:0002434 oculomotor nerve cancer MONDO:0002435 DOID:2816 DOID:2817 oculomotor nerve neoplasm MONDO:0002435 oculomotor nerve neoplasm MONDO:0003546 DOID:2817 DOID:562 third cranial nerve disorder MONDO:0002438 acquired polycythemia MONDO:0005571 DOID:2834 DOID:8432 polycythemia MONDO:0002443 bruxism MONDO:0003406 DOID:2846 DOID:535 sleep-wake disorder MONDO:0002447 endometrial carcinoma MONDO:0011962 DOID:2871 DOID:1380 endometrial cancer MONDO:0002448 laryngeal sarcoma MONDO:0002352 DOID:2877 DOID:2596 larynx cancer MONDO:0002449 nodular degeneration of cornea MONDO:0001515 DOID:2879 DOID:1237 corneal degeneration MONDO:0002452 prostate leiomyoma MONDO:0001572 DOID:2887 DOID:127 leiomyoma MONDO:0002453 retrocochlear disease MONDO:0002409 DOID:2889 DOID:2742 auditory system disorder MONDO:0002455 exocervical carcinoma MONDO:0005131 DOID:2892 DOID:2893 cervical carcinoma MONDO:0002457 Treacher-Collins syndrome MONDO:0000426 DOID:2908 DOID:0050736 autosomal dominant disease MONDO:0002457 Treacher-Collins syndrome MONDO:0002254 DOID:2908 DOID:225 syndromic disease MONDO:0002459 type IV hypersensitivity disease MONDO:0000605 DOID:2916 DOID:0060056 hypersensitivity reaction disease MONDO:0002460 lacrimal system cancer MONDO:0001854 DOID:292 DOID:1400 lacrimal apparatus disorder MONDO:0002460 lacrimal system cancer MONDO:0002236 DOID:292 DOID:2174 ocular cancer MONDO:0002461 membranoproliferative glomerulonephritis MONDO:0002462 DOID:2920 DOID:2921 glomerulonephritis MONDO:0002462 glomerulonephritis MONDO:0001166 DOID:2921 DOID:10952 nephritis MONDO:0002463 lacrimal gland carcinoma MONDO:0002464 DOID:293 DOID:294 lacrimal gland cancer MONDO:0002464 lacrimal gland cancer MONDO:0002460 DOID:294 DOID:292 lacrimal system cancer MONDO:0002465 bronchiolitis MONDO:0005275 DOID:2942 DOID:850 lung disorder MONDO:0002466 eye carcinoma MONDO:0002236 DOID:295 DOID:2174 ocular cancer MONDO:0002467 inner ear disorder MONDO:0002409 DOID:2952 DOID:2742 auditory system disorder MONDO:0002468 hyperimmunoglobulin syndrome MONDO:0002211 DOID:2959 DOID:2115 B cell deficiency MONDO:0002470 photosensitive trichothiodystrophy MONDO:0018053 DOID:2960 DOID:0111866 trichothiodystrophy MONDO:0002471 bursitis MONDO:0006816 DOID:2965 DOID:381 arthropathy MONDO:0002473 cystic kidney disease MONDO:0005240 DOID:2975 DOID:557 kidney disorder MONDO:0002474 primary hyperoxaluria MONDO:0019214 DOID:2977 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0002475 lacrimal gland adenocarcinoma MONDO:0002463 DOID:298 DOID:293 lacrimal gland carcinoma MONDO:0002475 lacrimal gland adenocarcinoma MONDO:0004970 DOID:298 DOID:299 adenocarcinoma MONDO:0002476 anuria MONDO:0005240 DOID:2983 DOID:557 kidney disorder MONDO:0002477 prostate neuroendocrine neoplasm MONDO:0019496 DOID:2992 DOID:169 neuroendocrine neoplasm MONDO:0002481 ovarian neuroendocrine neoplasm MONDO:0008170 DOID:3002 DOID:2394 ovarian cancer MONDO:0002481 ovarian neuroendocrine neoplasm MONDO:0019496 DOID:3002 DOID:169 neuroendocrine neoplasm MONDO:0002486 lobular neoplasia MONDO:0004658 DOID:3010 DOID:8791 breast carcinoma in situ MONDO:0002489 malignant breast phyllodes tumor MONDO:0007254 DOID:3016 DOID:1612 breast cancer MONDO:0002490 breast sarcoma MONDO:0007254 DOID:3017 DOID:1612 breast cancer MONDO:0002491 substance abuse MONDO:0002494 DOID:302 DOID:303 substance-related disorder MONDO:0002492 acute kidney failure MONDO:0001106 DOID:3021 DOID:1074 kidney failure MONDO:0002493 prostatic acinar adenocarcinoma MONDO:0005082 DOID:3024 DOID:2526 prostate adenocarcinoma MONDO:0002494 substance-related disorder MONDO:0002025 DOID:303 DOID:150 psychiatric disorder MONDO:0002495 colon signet ring cell adenocarcinoma MONDO:0002271 DOID:3033 DOID:234 colon adenocarcinoma MONDO:0002496 submucosal invasive colon adenocarcinoma MONDO:0002271 DOID:3038 DOID:234 colon adenocarcinoma MONDO:0002501 brain glioblastoma MONDO:0005499 DOID:3073 DOID:0060108 brain glioma MONDO:0002503 adult astrocytic tumor MONDO:0021636 DOID:3076 DOID:3069 astrocytic tumor MONDO:0002505 childhood astrocytic tumor MONDO:0021636 DOID:3079 DOID:3069 astrocytic tumor MONDO:0002507 gingival overgrowth MONDO:0002021 DOID:3086 DOID:1483 gingival disorder MONDO:0002508 gingivitis MONDO:0002021 DOID:3087 DOID:1483 gingival disorder MONDO:0002511 stenosis of lacrimal sac MONDO:0001854 DOID:3096 DOID:1400 lacrimal apparatus disorder MONDO:0002512 papillary adenocarcinoma MONDO:0004970 DOID:3112 DOID:299 adenocarcinoma MONDO:0002513 kidney benign neoplasm MONDO:0004180 DOID:3116 DOID:731 benign urinary system neoplasm MONDO:0002515 hepatobiliary disorder MONDO:0004335 DOID:3118 DOID:77 digestive system disorder MONDO:0002516 digestive system cancer MONDO:0004335 DOID:3119 DOID:77 digestive system disorder MONDO:0002516 digestive system cancer MONDO:0004992 DOID:3119 DOID:0050686 cancer MONDO:0002517 tenosynovitis of foot and ankle MONDO:0004855 DOID:312 DOID:970 tenosynovitis MONDO:0002519 anus disorder MONDO:0001593 DOID:3128 DOID:1285 rectal disorder MONDO:0002522 tenosynovial giant cell tumor MONDO:0002171 DOID:314 DOID:200 giant cell tumor MONDO:0002525 inherited lipid metabolism disorder MONDO:0019052 DOID:3146 DOID:655 inborn errors of metabolism MONDO:0002526 dermal unilateral segmental cavernous angioma MONDO:0003155 DOID:3148 DOID:483 cavernous hemangioma MONDO:0002529 skin squamous cell carcinoma MONDO:0002656 DOID:3151 DOID:3451 skin carcinoma MONDO:0002529 skin squamous cell carcinoma MONDO:0005096 DOID:3151 DOID:1749 squamous cell carcinoma MONDO:0002531 skin neoplasm MONDO:0005093 DOID:3165 DOID:37 skin disorder MONDO:0002533 papillary adenoma MONDO:0004972 DOID:3172 DOID:657 adenoma MONDO:0002534 fallopian tube papilloma MONDO:0000645 DOID:3173 DOID:0060111 fallopian tube benign neoplasm MONDO:0002535 verrucous papilloma MONDO:0002363 DOID:3177 DOID:2615 papilloma MONDO:0002536 skin papilloma MONDO:0002363 DOID:3178 DOID:2615 papilloma MONDO:0002537 inverted papilloma MONDO:0002363 DOID:3179 DOID:2615 papilloma MONDO:0002540 childhood oligodendroglioma MONDO:0016695 DOID:3183 DOID:3181 oligodendroglioma MONDO:0002541 spinal cord oligodendroglioma MONDO:0002542 DOID:3184 DOID:3185 spinal cord glioma MONDO:0002541 spinal cord oligodendroglioma MONDO:0016695 DOID:3184 DOID:3181 oligodendroglioma MONDO:0002542 spinal cord glioma MONDO:0003544 DOID:3185 DOID:5612 spinal cord cancer MONDO:0002542 spinal cord glioma MONDO:0100342 DOID:3185 DOID:3070 malignant glioma MONDO:0002543 adult oligodendroglioma MONDO:0016695 DOID:3186 DOID:3181 oligodendroglioma MONDO:0002544 brain oligodendroglioma MONDO:0005499 DOID:3187 DOID:0060108 brain glioma MONDO:0002545 spinal cord disorder MONDO:0002602 DOID:319 DOID:331 central nervous system disorder MONDO:0002547 nerve sheath neoplasm MONDO:0001406 DOID:3193 DOID:1192 peripheral nervous system neoplasm MONDO:0002548 cellular schwannoma MONDO:0002546 DOID:3196 DOID:3192 schwannoma MONDO:0002549 schwannoma of twelfth cranial nerve MONDO:0002546 DOID:3197 DOID:3192 schwannoma MONDO:0002551 c-P angle neurinoma MONDO:0002553 DOID:3199 DOID:3200 cerebellopontine angle tumor MONDO:0002552 vascular myelopathy MONDO:0002545 DOID:320 DOID:319 spinal cord disorder MONDO:0002554 sympathetic neurilemmoma MONDO:0002366 DOID:3201 DOID:2621 autonomic nervous system neoplasm MONDO:0002555 trigeminal schwannoma MONDO:0001420 DOID:3202 DOID:1201 trigeminal nerve neoplasm MONDO:0002558 melanotic neurilemmoma MONDO:0002546 DOID:3205 DOID:3192 schwannoma MONDO:0002559 plexiform schwannoma MONDO:0002546 DOID:3206 DOID:3192 schwannoma MONDO:0002561 lysosomal storage disease MONDO:0019052 DOID:3211 DOID:655 inborn errors of metabolism MONDO:0002564 jejunal neoplasm MONDO:0004251 DOID:3218 DOID:7505 small intestine neoplasm MONDO:0002565 myelitis MONDO:0002545 DOID:322 DOID:319 spinal cord disorder MONDO:0002567 tracheal disorder MONDO:0004867 DOID:3225 DOID:974 upper respiratory tract disorder MONDO:0002568 tracheal stenosis MONDO:0002567 DOID:3227 DOID:3225 tracheal disorder MONDO:0002569 gastric dilatation MONDO:0004298 DOID:3229 DOID:76 stomach disorder MONDO:0002570 high pressure neurological syndrome MONDO:0002602 DOID:3230 DOID:331 central nervous system disorder MONDO:0002571 primary central nervous system lymphoma MONDO:0003641 DOID:3234 DOID:5772 central nervous system hematopoietic neoplasm MONDO:0002574 prostate embryonal rhabdomyosarcoma MONDO:0006389 DOID:3251 DOID:3252 prostate rhabdomyosarcoma MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma MONDO:0002577 DOID:3253 DOID:3254 extrahepatic bile duct rhabdomyosarcoma MONDO:0002578 botryoid rhabdomyosarcoma MONDO:0009993 DOID:3255 DOID:3246 embryonal rhabdomyosarcoma MONDO:0002579 orbit embryonal rhabdomyosarcoma MONDO:0002580 DOID:3258 DOID:3259 orbit rhabdomyosarcoma MONDO:0002580 orbit rhabdomyosarcoma MONDO:0004943 DOID:3259 DOID:9987 orbit sarcoma MONDO:0002581 spindle cell rhabdomyosarcoma MONDO:0005212 DOID:3260 DOID:3247 rhabdomyosarcoma MONDO:0002583 mucinous ovarian cystadenoma MONDO:0005183 DOID:3267 DOID:3269 ovarian cystadenoma MONDO:0002585 breast fibrocystic change, proliferative type MONDO:0005219 DOID:3274 DOID:10354 breast fibrocystic disease MONDO:0002586 thymus cancer MONDO:0021069 DOID:3277 DOID:170 malignant endocrine neoplasm MONDO:0002587 encapsulated thymoma MONDO:0006456 DOID:3278 DOID:3275 thymoma MONDO:0002588 thymoma type A MONDO:0006456 DOID:3279 DOID:3275 thymoma MONDO:0002590 combined thymoma MONDO:0006456 DOID:3281 DOID:3275 thymoma MONDO:0002592 invasive malignant thymoma MONDO:0006456 DOID:3283 DOID:3275 thymoma MONDO:0002595 vaccinia MONDO:0005108 DOID:3298 DOID:934 viral infectious disease MONDO:0002602 central nervous system disorder MONDO:0005071 DOID:331 DOID:863 nervous system disorder MONDO:0002605 hepatic angiomyolipoma MONDO:0024477 DOID:3317 DOID:916 liver and intrahepatic bile duct neoplasm MONDO:0002606 epithelioid type angiomyolipoma MONDO:0002603 DOID:3318 DOID:3314 angiomyolipoma MONDO:0002610 purpura MONDO:0002243 DOID:3326 DOID:2213 hemorrhagic disease MONDO:0002612 frontal lobe epilepsy MONDO:0005384 DOID:3331 DOID:2234 focal epilepsy MONDO:0002613 histrionic personality disorder MONDO:0002028 DOID:334 DOID:1510 personality disorder MONDO:0002614 bone inflammation disease MONDO:0005381 DOID:3342 DOID:0080001 bone disorder MONDO:0002615 xanthomatosis MONDO:0019245 DOID:3345 DOID:9455 lysosomal lipid storage disorder MONDO:0002617 bone angiosarcoma MONDO:0021054 DOID:3351 DOID:0080639 bone sarcoma MONDO:0002619 bone fibrosarcoma MONDO:0021054 DOID:3354 DOID:0080639 bone sarcoma MONDO:0002620 localized osteosarcoma MONDO:0009807 DOID:3356 DOID:3347 osteosarcoma MONDO:0002621 extraosseous osteosarcoma MONDO:0009807 DOID:3357 DOID:3347 osteosarcoma MONDO:0002623 pediatric osteosarcoma MONDO:0009807 DOID:3361 DOID:3347 osteosarcoma MONDO:0002624 bone leiomyosarcoma MONDO:0005058 DOID:3367 DOID:1967 leiomyosarcoma MONDO:0002625 Ewing sarcoma of bone MONDO:0012817 DOID:3368 DOID:3369 Ewing sarcoma MONDO:0002628 peripheral osteosarcoma MONDO:0002629 DOID:3374 DOID:3376 bone osteosarcoma MONDO:0002629 bone osteosarcoma MONDO:0009807 DOID:3376 DOID:3347 osteosarcoma MONDO:0002631 conventional osteosarcoma MONDO:0002629 DOID:7602 DOID:3376 bone osteosarcoma MONDO:0002637 histiocytosis MONDO:0005833 DOID:3405 DOID:75 lymphatic system disorder MONDO:0002639 glossopharyngeal nerve disorder MONDO:0003569 DOID:3418 DOID:5656 cranial nerve neuropathy MONDO:0002640 optic nerve neoplasm MONDO:0002135 DOID:3419 DOID:1891 optic nerve disorder MONDO:0002641 subclavian artery aneurysm MONDO:0000473 DOID:342 DOID:0050828 arterial disorder MONDO:0002643 vestibular disorder MONDO:0002467 DOID:3426 DOID:2952 inner ear disorder MONDO:0002644 idiopathic granulomatous myositis MONDO:0021167 DOID:3428 DOID:633 myositis disease MONDO:0002645 cerebritis MONDO:0005560 DOID:3431 DOID:936 brain disorder MONDO:0002646 viral laryngitis MONDO:0004777 DOID:3436 DOID:9396 acute laryngitis MONDO:0002647 laryngitis MONDO:0004382 DOID:3437 DOID:786 laryngeal disorder MONDO:0002648 mammary Paget disease MONDO:0004988 DOID:3443 DOID:3458 breast adenocarcinoma MONDO:0002649 scrotum Paget disease MONDO:0002650 DOID:3444 DOID:3445 scrotal carcinoma MONDO:0002650 scrotal carcinoma MONDO:0004993 DOID:3445 DOID:305 carcinoma MONDO:0002651 anal Paget disease MONDO:0002652 DOID:3446 DOID:3447 anus adenocarcinoma MONDO:0002652 anus adenocarcinoma MONDO:0003199 DOID:3447 DOID:4908 anal carcinoma MONDO:0002653 Paget disease of the penis MONDO:0006360 DOID:3448 DOID:3449 penile carcinoma MONDO:0002654 uterine disorder MONDO:0002263 DOID:345 DOID:229 female reproductive system disorder MONDO:0002655 cutaneous Paget disease MONDO:0002656 DOID:3450 DOID:3451 skin carcinoma MONDO:0002656 skin carcinoma MONDO:0002898 DOID:3451 DOID:4159 skin cancer MONDO:0002656 skin carcinoma MONDO:0004993 DOID:3451 DOID:305 carcinoma MONDO:0002658 iris cancer MONDO:0002659 DOID:3478 DOID:3479 uveal cancer MONDO:0002659 uveal cancer MONDO:0002236 DOID:3479 DOID:2174 ocular cancer MONDO:0002660 blepharochalasis MONDO:0003382 DOID:348 DOID:530 eyelid disorder MONDO:0002661 uveal disorder MONDO:0005328 DOID:3480 DOID:5614 eye disorder MONDO:0002665 extrahepatic bile duct adenocarcinoma MONDO:0003090 DOID:3495 DOID:4682 extrahepatic bile duct carcinoma MONDO:0002666 pancreatic signet ring cell adenocarcinoma MONDO:0005184 DOID:3497 DOID:3498 pancreatic ductal adenocarcinoma MONDO:0002667 gallbladder signet ring cell adenocarcinoma MONDO:0006215 DOID:3499 DOID:3500 gallbladder adenocarcinoma MONDO:0002669 ampullary signet ring cell adenocarcinoma MONDO:0002670 DOID:3501 DOID:3502 ampulla of vater adenocarcinoma MONDO:0002670 ampulla of vater adenocarcinoma MONDO:0017590 DOID:3502 DOID:4932 carcinoma of the ampulla of vater MONDO:0002671 signet ring cell breast carcinoma MONDO:0004988 DOID:3503 DOID:3458 breast adenocarcinoma MONDO:0002674 stricture or kinking of ureter MONDO:0005240 DOID:3508 DOID:557 kidney disorder MONDO:0002675 neurofibrosarcoma MONDO:0016755 DOID:3512 DOID:962 neurofibroma MONDO:0002677 conventional fibrosarcoma MONDO:0005164 DOID:3517 DOID:3355 fibrosarcoma MONDO:0002678 pediatric fibrosarcoma MONDO:0005164 DOID:3520 DOID:3355 fibrosarcoma MONDO:0002679 cerebral infarction MONDO:0005394 DOID:3526 DOID:3454 brain infarction MONDO:0002681 choroid plexus cancer MONDO:0002682 DOID:3540 DOID:3541 cerebral ventricle cancer MONDO:0002687 superior mesenteric artery syndrome MONDO:0002688 DOID:3557 DOID:3558 duodenal obstruction MONDO:0002688 duodenal obstruction MONDO:0002866 DOID:3558 DOID:4072 duodenal disorder MONDO:0002691 liver cancer MONDO:0021069 DOID:3571 DOID:170 malignant endocrine neoplasm MONDO:0002692 intracranial sinus thrombosis MONDO:0002907 DOID:3572 DOID:4193 intracranial thrombosis MONDO:0002693 lateral sinus thrombosis MONDO:0002692 DOID:3574 DOID:3572 intracranial sinus thrombosis MONDO:0002694 cavernous sinus thrombosis MONDO:0002692 DOID:3575 DOID:3572 intracranial sinus thrombosis MONDO:0002695 sagittal sinus thrombosis MONDO:0002692 DOID:3576 DOID:3572 intracranial sinus thrombosis MONDO:0002696 Sertoli cell tumor MONDO:0006055 DOID:3577 DOID:192 sex cord-stromal tumor MONDO:0002697 ovarian gonadoblastoma MONDO:0010768 DOID:3578 DOID:3301 gonadoblastoma MONDO:0002698 testicular gonadoblastoma MONDO:0010768 DOID:3579 DOID:3301 gonadoblastoma MONDO:0002701 ovarian mucinous cystadenocarcinoma MONDO:0002702 DOID:3604 DOID:3605 ovarian cystadenocarcinoma MONDO:0002702 ovarian cystadenocarcinoma MONDO:0002752 DOID:3605 DOID:3713 ovarian adenocarcinoma MONDO:0002706 cervix endometriosis MONDO:0002256 DOID:361 DOID:2253 cervix disorder MONDO:0002708 retinitis MONDO:0005283 DOID:3612 DOID:5679 retinal disorder MONDO:0002710 infiltrating angiolipoma MONDO:0006085 DOID:3615 DOID:3616 angiolipoma MONDO:0002712 epidural spinal canal angiolipoma MONDO:0006085 DOID:3617 DOID:3616 angiolipoma MONDO:0002714 central nervous system cancer MONDO:0005872 DOID:3620 DOID:3093 nervous system cancer MONDO:0002715 uterine cancer MONDO:0001416 DOID:363 DOID:120 female reproductive organ cancer MONDO:0002720 sella turcica neoplasm MONDO:0002785 DOID:3643 DOID:3842 skull base neoplasm MONDO:0002721 necrosis of pituitary MONDO:0003381 DOID:3646 DOID:53 pituitary gland disorder MONDO:0002726 cutaneous solitary mastocytoma MONDO:0002724 DOID:3666 DOID:3664 mast cell neoplasm MONDO:0002729 rhabdoid tumor of the kidney MONDO:0002728 DOID:3674 DOID:3672 rhabdoid tumor MONDO:0002731 cerebral hemisphere cancer MONDO:0002071 DOID:368 DOID:1659 supratentorial cancer MONDO:0002732 lung benign neoplasm MONDO:0000382 DOID:3683 DOID:0050621 respiratory system benign neoplasm MONDO:0002734 anal mucinous adenocarcinoma MONDO:0002652 DOID:3691 DOID:3447 anus adenocarcinoma MONDO:0002736 ampulla of vater mucinous adenocarcinoma MONDO:0002670 DOID:3693 DOID:3502 ampulla of vater adenocarcinoma MONDO:0002737 acute sanguinous otitis media MONDO:0002738 DOID:3696 DOID:3697 acute transudative otitis media MONDO:0002738 acute transudative otitis media MONDO:0001212 DOID:3697 DOID:11180 non-suppurative otitis media MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma MONDO:0004957 DOID:3698 DOID:3030 mucinous adenocarcinoma MONDO:0002740 uterine ligament mucinous adenocarcinoma MONDO:0002741 DOID:3699 DOID:3700 uterine ligament adenocarcinoma MONDO:0002741 uterine ligament adenocarcinoma MONDO:0003612 DOID:3700 DOID:5727 uterine ligament cancer MONDO:0002742 cervical mucinous adenocarcinoma MONDO:0004957 DOID:3701 DOID:3030 mucinous adenocarcinoma MONDO:0002742 cervical mucinous adenocarcinoma MONDO:0005153 DOID:3701 DOID:3702 cervical adenocarcinoma MONDO:0002744 fallopian tube mucinous adenocarcinoma MONDO:0002746 DOID:3704 DOID:3706 fallopian tube adenocarcinoma MONDO:0002744 fallopian tube mucinous adenocarcinoma MONDO:0004957 DOID:3704 DOID:3030 mucinous adenocarcinoma MONDO:0002746 fallopian tube adenocarcinoma MONDO:0004970 DOID:3706 DOID:299 adenocarcinoma MONDO:0002746 fallopian tube adenocarcinoma MONDO:0006206 DOID:3706 DOID:1963 fallopian tube carcinoma MONDO:0002747 endometrial mucinous adenocarcinoma MONDO:0004957 DOID:3707 DOID:3030 mucinous adenocarcinoma MONDO:0002747 endometrial mucinous adenocarcinoma MONDO:0005461 DOID:3707 DOID:2870 endometrium adenocarcinoma MONDO:0002748 rectum mucinous adenocarcinoma MONDO:0002169 DOID:3709 DOID:1996 rectum adenocarcinoma MONDO:0002748 rectum mucinous adenocarcinoma MONDO:0004957 DOID:3709 DOID:3030 mucinous adenocarcinoma MONDO:0002749 extracranial neuroblastoma MONDO:0005072 DOID:371 DOID:769 neuroblastoma MONDO:0002750 bladder colloid adenocarcinoma MONDO:0002751 DOID:3710 DOID:3711 bladder adenocarcinoma MONDO:0002751 bladder adenocarcinoma MONDO:0004970 DOID:3711 DOID:299 adenocarcinoma MONDO:0002751 bladder adenocarcinoma MONDO:0004986 DOID:3711 DOID:4007 urinary bladder carcinoma MONDO:0002752 ovarian adenocarcinoma MONDO:0004970 DOID:3713 DOID:299 adenocarcinoma MONDO:0002752 ovarian adenocarcinoma MONDO:0005140 DOID:3713 DOID:4001 ovarian carcinoma MONDO:0002754 extramedullary plasmacytoma MONDO:0005615 DOID:3720 DOID:3721 plasmacytoma MONDO:0002755 solitary osseous plasmacytoma MONDO:0005615 DOID:3722 DOID:3721 plasmacytoma MONDO:0002756 solitary plasmacytoma of chest wall MONDO:0005615 DOID:3723 DOID:3721 plasmacytoma MONDO:0002757 acute allergic sanguinous otitis media MONDO:0002737 DOID:3728 DOID:3696 acute sanguinous otitis media MONDO:0002758 vulva verrucous carcinoma MONDO:0024609 DOID:3740 DOID:2101 vulvar squamous cell carcinoma MONDO:0002759 bladder verrucous carcinoma MONDO:0002760 DOID:3741 DOID:3742 bladder squamous cell carcinoma MONDO:0002760 bladder squamous cell carcinoma MONDO:0004986 DOID:3742 DOID:4007 urinary bladder carcinoma MONDO:0002760 bladder squamous cell carcinoma MONDO:0005096 DOID:3742 DOID:1749 squamous cell carcinoma MONDO:0002761 cervical verrucous carcinoma MONDO:0006143 DOID:3743 DOID:3744 cervical squamous cell carcinoma MONDO:0002762 esophagus verrucous carcinoma MONDO:0005580 DOID:3747 DOID:3748 esophageal squamous cell carcinoma MONDO:0002763 urethral verrucous carcinoma MONDO:0002764 DOID:3749 DOID:3750 urethra squamous cell carcinoma MONDO:0002764 urethra squamous cell carcinoma MONDO:0005096 DOID:3750 DOID:1749 squamous cell carcinoma MONDO:0002765 plantar verrucous skin carcinoma MONDO:0002529 DOID:3751 DOID:3151 skin squamous cell carcinoma MONDO:0002766 larynx verrucous carcinoma MONDO:0005595 DOID:3752 DOID:2876 laryngeal squamous cell carcinoma MONDO:0002768 true hermaphroditism MONDO:0002145 DOID:3763 DOID:1923 disorder of sexual differentiation MONDO:0002769 leukorrhea MONDO:0002770 DOID:3766 DOID:3767 vaginal discharge MONDO:0002770 vaginal discharge MONDO:0001433 DOID:3767 DOID:121 vaginal disorder MONDO:0002771 pulmonary fibrosis MONDO:0015925 DOID:3770 DOID:3082 interstitial lung disease MONDO:0002772 intraventricular meningioma MONDO:0016642 DOID:3772 DOID:3565 meningioma MONDO:0002775 anovulation MONDO:0005558 DOID:3781 DOID:1100 ovarian disorder MONDO:0002776 external ear disorder MONDO:0002409 DOID:379 DOID:2742 auditory system disorder MONDO:0002778 epidural spinal canal meningioma MONDO:0001279 DOID:3809 DOID:1140 intraspinal meningioma MONDO:0002779 central nervous system chondroma MONDO:0000628 DOID:3813 DOID:0060090 central nervous system organ benign neoplasm MONDO:0002781 glossopharyngeal nerve paralysis MONDO:0002782 DOID:3816 DOID:3817 cranial nerve palsy MONDO:0002782 cranial nerve palsy MONDO:0003569 DOID:3817 DOID:5656 cranial nerve neuropathy MONDO:0002783 Shwartzman phenomenon MONDO:0018882 DOID:3825 DOID:865 vasculitis MONDO:0002786 diencephalic cancer MONDO:0002071 DOID:3843 DOID:1659 supratentorial cancer MONDO:0002787 adamantinous craniopharyngioma MONDO:0018907 DOID:3846 DOID:3840 craniopharyngioma MONDO:0002788 papillary craniopharyngioma MONDO:0018907 DOID:3847 DOID:3840 craniopharyngioma MONDO:0002789 hemangiopericytic tumor MONDO:0002604 DOID:3850 DOID:3316 pericytic neoplasm MONDO:0002791 large cell medulloblastoma MONDO:0007959 DOID:3857 DOID:0050902 medulloblastoma MONDO:0002792 cerebellar vermis medulloblastoma MONDO:0007959 DOID:3860 DOID:0050902 medulloblastoma MONDO:0002792 cerebellar vermis medulloblastoma MONDO:0007959 DOID:3860 DOID:0060104 medulloblastoma MONDO:0002794 adult medulloblastoma MONDO:0007959 DOID:3864 DOID:0050902 medulloblastoma MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm MONDO:0000640 DOID:3865 DOID:0060103 central nervous system primitive neuroectodermal neoplasm MONDO:0002796 melanotic medulloblastoma MONDO:0007959 DOID:3868 DOID:0050902 medulloblastoma MONDO:0002797 childhood medulloblastoma MONDO:0007959 DOID:3869 DOID:0050902 medulloblastoma MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm MONDO:0000640 DOID:3870 DOID:0060103 central nervous system primitive neuroectodermal neoplasm MONDO:0002800 thrombophlebitis MONDO:0004625 DOID:3875 DOID:864 phlebitis MONDO:0002801 colonic pseudo-obstruction MONDO:0002802 DOID:3876 DOID:3877 functional colonic disease MONDO:0002802 functional colonic disease MONDO:0003409 DOID:3877 DOID:5353 colonic disorder MONDO:0002804 apocrine adenoma MONDO:0003686 DOID:3895 DOID:5876 apocrine sweat gland neoplasm MONDO:0002806 bronchogenic carcinoma MONDO:0001672 DOID:3904 DOID:1325 bronchus cancer MONDO:0002807 bronchial neoplasm MONDO:0001358 DOID:3906 DOID:1176 bronchial disorder MONDO:0002808 pancreatic serous cystadenoma MONDO:0002809 DOID:3917 DOID:3918 pancreatic cystadenoma MONDO:0002814 adrenal carcinoma MONDO:0002817 DOID:3950 DOID:3953 adrenal gland cancer MONDO:0002815 acute myocarditis MONDO:0004496 DOID:3951 DOID:820 myocarditis MONDO:0002816 adrenal cortex disorder MONDO:0005495 DOID:3952 DOID:9553 adrenal gland disorder MONDO:0002817 adrenal gland cancer MONDO:0021069 DOID:3953 DOID:170 malignant endocrine neoplasm MONDO:0002821 trabecular follicular adenocarcinoma MONDO:0005034 DOID:3964 DOID:3962 thyroid gland follicular carcinoma MONDO:0002824 extrinsic cardiomyopathy MONDO:0004994 DOID:3978 DOID:0050700 cardiomyopathy MONDO:0002828 Bartholin gland transitional cell carcinoma MONDO:0002829 DOID:3998 DOID:3999 bartholin gland carcinoma MONDO:0002829 bartholin gland carcinoma MONDO:0005215 DOID:3999 DOID:1294 vulvar carcinoma MONDO:0002832 endometrial transitional cell carcinoma MONDO:0002447 DOID:4005 DOID:2871 endometrial carcinoma MONDO:0002832 endometrial transitional cell carcinoma MONDO:0006474 DOID:4005 DOID:2671 transitional cell carcinoma MONDO:0002833 fallopian tube transitional cell carcinoma MONDO:0006206 DOID:4008 DOID:1963 fallopian tube carcinoma MONDO:0002833 fallopian tube transitional cell carcinoma MONDO:0006474 DOID:4008 DOID:2671 transitional cell carcinoma MONDO:0002834 primary prostate urothelial carcinoma MONDO:0005159 DOID:4011 DOID:10286 prostate carcinoma MONDO:0002834 primary prostate urothelial carcinoma MONDO:0006474 DOID:4011 DOID:2671 transitional cell carcinoma MONDO:0002837 sarcomatoid transitional cell carcinoma MONDO:0006474 DOID:4014 DOID:2671 transitional cell carcinoma MONDO:0002840 eosinophilic gastritis MONDO:0004966 DOID:4030 DOID:4029 gastritis MONDO:0002842 bacterial gastritis MONDO:0004966 DOID:4033 DOID:4029 gastritis MONDO:0002842 bacterial gastritis MONDO:0005113 DOID:4033 DOID:104 bacterial infectious disease MONDO:0002843 fungal gastritis MONDO:0002041 DOID:4034 DOID:1564 fungal infectious disease MONDO:0002843 fungal gastritis MONDO:0004966 DOID:4034 DOID:4029 gastritis MONDO:0002844 lymphocytic gastritis MONDO:0004966 DOID:4035 DOID:4029 gastritis MONDO:0002845 necrotizing gastritis MONDO:0004966 DOID:4037 DOID:4029 gastritis MONDO:0002846 granulomatous gastritis MONDO:0004966 DOID:4038 DOID:4029 gastritis MONDO:0002847 skeletal muscle cancer MONDO:0005864 DOID:4043 DOID:4045 muscle cancer MONDO:0002849 liver rhabdomyosarcoma MONDO:0002397 DOID:4047 DOID:270 liver sarcoma MONDO:0002850 central nervous system rhabdomyosarcoma MONDO:0005212 DOID:4048 DOID:3247 rhabdomyosarcoma MONDO:0002851 mediastinum rhabdomyosarcoma MONDO:0005212 DOID:4049 DOID:3247 rhabdomyosarcoma MONDO:0002853 rectum rhabdomyosarcoma MONDO:0002168 DOID:4053 DOID:1995 rectum sarcoma MONDO:0002854 prostate sarcoma MONDO:0008315 DOID:4054 DOID:10283 prostate cancer MONDO:0002856 gallbladder rhabdomyosarcoma MONDO:0005212 DOID:4057 DOID:3247 rhabdomyosarcoma MONDO:0002857 gallbladder sarcoma MONDO:0005411 DOID:4058 DOID:3121 gallbladder cancer MONDO:0002858 ovary rhabdomyosarcoma MONDO:0005212 DOID:4059 DOID:3247 rhabdomyosarcoma MONDO:0002859 breast rhabdomyosarcoma MONDO:0002490 DOID:4060 DOID:3017 breast sarcoma MONDO:0002860 testis rhabdomyosarcoma MONDO:0002861 DOID:4061 DOID:4062 testis sarcoma MONDO:0002861 testis sarcoma MONDO:0005447 DOID:4062 DOID:2998 testicular cancer MONDO:0002862 bile duct sarcoma MONDO:0003059 DOID:4064 DOID:4606 bile duct cancer MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features MONDO:0005212 DOID:4065 DOID:3247 rhabdomyosarcoma MONDO:0002865 anus sarcoma MONDO:0001879 DOID:4067 DOID:14110 anus cancer MONDO:0002867 pancreatic cystadenocarcinoma MONDO:0006047 DOID:4073 DOID:4074 pancreatic adenocarcinoma MONDO:0002869 heart valve disorder MONDO:0005267 DOID:4079 DOID:114 heart disorder MONDO:0002870 tricuspid valve insufficiency MONDO:0000471 DOID:4080 DOID:0050826 tricuspid valve disorder MONDO:0002871 testicular trophoblastic tumor MONDO:0002872 DOID:4084 DOID:4085 trophoblastic neoplasm MONDO:0002874 testicular pure germ cell tumor MONDO:0010108 DOID:4087 DOID:5557 testicular germ cell tumor MONDO:0002878 uterine corpus adenosarcoma MONDO:0002879 DOID:4113 DOID:4114 uterine body mixed cancer MONDO:0002879 uterine body mixed cancer MONDO:0006003 DOID:4114 DOID:9460 uterine corpus cancer MONDO:0002883 intestinal neuroendocrine neoplasm MONDO:0021118 DOID:4119 DOID:4610 intestinal neoplasm MONDO:0002884 nail disorder MONDO:0002051 DOID:4123 DOID:16 integumentary system disorder MONDO:0002885 erythrasma MONDO:0002922 DOID:4131 DOID:4223 pyoderma MONDO:0002886 common bile duct disorder MONDO:0002887 DOID:4137 DOID:4138 bile duct disorder MONDO:0002887 bile duct disorder MONDO:0004868 DOID:4138 DOID:9741 biliary tract disorder MONDO:0002888 intraorbital meningioma MONDO:0016642 DOID:4141 DOID:3565 meningioma MONDO:0002892 skull base chordoma MONDO:0008978 DOID:4151 DOID:3302 chordoma MONDO:0002894 spinal chordoma MONDO:0008978 DOID:4153 DOID:3302 chordoma MONDO:0002896 primary syphilis MONDO:0005976 DOID:4156 DOID:4166 syphilis MONDO:0002897 secondary syphilis MONDO:0005976 DOID:4157 DOID:4166 syphilis MONDO:0002898 skin cancer MONDO:0000653 DOID:4159 DOID:0060122 integumentary system cancer MONDO:0002899 differentiating neuroblastoma MONDO:0005072 DOID:4160 DOID:769 neuroblastoma MONDO:0002900 cerebral neuroblastoma MONDO:0002731 DOID:4164 DOID:368 cerebral hemisphere cancer MONDO:0002901 blood group incompatibility MONDO:0005570 DOID:4176 DOID:74 hematologic disorder MONDO:0002903 articulation disorder MONDO:0004730 DOID:4186 DOID:92 speech disorder MONDO:0002904 echolalia MONDO:0004730 DOID:4188 DOID:92 speech disorder MONDO:0002905 mutism MONDO:0004730 DOID:4189 DOID:92 speech disorder MONDO:0002907 intracranial thrombosis MONDO:0000831 DOID:4193 DOID:0060903 thrombotic disease MONDO:0002907 intracranial thrombosis MONDO:0011057 DOID:4193 DOID:6713 cerebrovascular disorder MONDO:0002909 hyperglycemia MONDO:0002908 DOID:4195 DOID:4194 glucose metabolism disease MONDO:0002910 peroneal neuropathy MONDO:0001397 DOID:4201 DOID:1188 mononeuropathy MONDO:0002911 brain stem glioma MONDO:0002912 DOID:4202 DOID:4203 brainstem cancer MONDO:0002912 brainstem cancer MONDO:0003107 DOID:4203 DOID:4706 infratentorial cancer MONDO:0002913 cerebellar neoplasm MONDO:0002427 DOID:4205 DOID:2786 cerebellar disorder MONDO:0002914 childhood brain stem neoplasm MONDO:0002912 DOID:4206 DOID:4203 brainstem cancer MONDO:0002916 brainstem intraparenchymal clear cell meningioma MONDO:0002918 DOID:4209 DOID:4210 clear cell meningioma MONDO:0002917 disorder of pilosebaceous unit MONDO:0002051 DOID:421 DOID:16 integumentary system disorder MONDO:0002918 clear cell meningioma MONDO:0016642 DOID:4210 DOID:3565 meningioma MONDO:0002919 posterior cranial fossa meningioma MONDO:0016642 DOID:4211 DOID:3565 meningioma MONDO:0002920 malignant ovarian Brenner tumor MONDO:0018364 DOID:4217 DOID:2151 malignant epithelial tumor of ovary MONDO:0002921 congenital structural myopathy MONDO:0019952 DOID:422 DOID:0081337 congenital myopathy MONDO:0002923 uterine corpus endometrial stromal sarcoma MONDO:0005210 DOID:4227 DOID:5165 uterine corpus sarcoma MONDO:0002924 smooth muscle cancer MONDO:0005864 DOID:4230 DOID:4045 muscle cancer MONDO:0002927 spindle cell sarcoma MONDO:0005089 DOID:4235 DOID:1115 sarcoma MONDO:0002928 carcinosarcoma MONDO:0005853 DOID:4236 DOID:154 malignant mixed neoplasm MONDO:0002929 pulmonary immaturity MONDO:0005275 DOID:424 DOID:850 lung disorder MONDO:0002930 kidney sarcoma MONDO:0002367 DOID:4242 DOID:263 kidney cancer MONDO:0002931 conjunctivochalasis MONDO:0006170 DOID:4250 DOID:4251 conjunctival disorder MONDO:0002933 osteosclerosis MONDO:0000833 DOID:4254 DOID:0080005 bone remodeling disease MONDO:0002934 intravascular angioleiomyoma MONDO:0006646 DOID:4266 DOID:4265 angioleiomyoma MONDO:0002935 penis basal cell carcinoma MONDO:0005341 DOID:4277 DOID:2513 skin basal cell carcinoma MONDO:0002936 scrotum basal cell carcinoma MONDO:0005341 DOID:4278 DOID:2513 skin basal cell carcinoma MONDO:0002937 nodular basal cell carcinoma MONDO:0005341 DOID:4280 DOID:2513 skin basal cell carcinoma MONDO:0002938 metatypical basal cell carcinoma MONDO:0005341 DOID:4281 DOID:2513 skin basal cell carcinoma MONDO:0002939 skin pigmented basal cell carcinoma MONDO:0005341 DOID:4282 DOID:2513 skin basal cell carcinoma MONDO:0002940 anal margin basal cell carcinoma MONDO:0005341 DOID:4283 DOID:2513 skin basal cell carcinoma MONDO:0002941 anal margin carcinoma MONDO:0003199 DOID:4284 DOID:4908 anal carcinoma MONDO:0002942 sebaceous basal cell carcinoma MONDO:0005341 DOID:4286 DOID:2513 skin basal cell carcinoma MONDO:0002943 external ear basal cell carcinoma MONDO:0005341 DOID:4287 DOID:2513 skin basal cell carcinoma MONDO:0002944 external ear carcinoma MONDO:0003574 DOID:4288 DOID:5665 external ear cancer MONDO:0002945 micronodular basal cell carcinoma MONDO:0005341 DOID:4289 DOID:2513 skin basal cell carcinoma MONDO:0002946 gynatresia MONDO:0002263 DOID:429 DOID:229 female reproductive system disorder MONDO:0002947 adamantinoid basal cell epithelioma MONDO:0005341 DOID:4290 DOID:2513 skin basal cell carcinoma MONDO:0002948 skin fibroepithelial basal cell carcinoma MONDO:0005341 DOID:4291 DOID:2513 skin basal cell carcinoma MONDO:0002949 morpheaform basal cell carcinoma MONDO:0005341 DOID:4292 DOID:2513 skin basal cell carcinoma MONDO:0002950 skin clear cell basal cell carcinoma MONDO:0005341 DOID:4293 DOID:2513 skin basal cell carcinoma MONDO:0002951 skin adenoid basal cell carcinoma MONDO:0005341 DOID:4294 DOID:2513 skin basal cell carcinoma MONDO:0002952 follicular basal cell carcinoma MONDO:0005341 DOID:4295 DOID:2513 skin basal cell carcinoma MONDO:0002953 skin infiltrative basal cell carcinoma MONDO:0005341 DOID:4299 DOID:2513 skin basal cell carcinoma MONDO:0002954 superficial multifocal basal cell carcinoma MONDO:0005341 DOID:4300 DOID:2513 skin basal cell carcinoma MONDO:0002955 vulva basal cell carcinoma MONDO:0005341 DOID:4301 DOID:2513 skin basal cell carcinoma MONDO:0002957 sarcomatoid basal cell carcinoma MONDO:0005341 DOID:4303 DOID:2513 skin basal cell carcinoma MONDO:0002958 signet ring basal cell carcinoma MONDO:0005341 DOID:4304 DOID:2513 skin basal cell carcinoma MONDO:0002959 radiculopathy MONDO:0003620 DOID:4306 DOID:574 peripheral nervous system disorder MONDO:0002961 large cell acanthoma MONDO:0002093 DOID:4321 DOID:174 acanthoma MONDO:0002962 epidermolytic acanthoma MONDO:0002093 DOID:4323 DOID:174 acanthoma MONDO:0002963 acantholytic acanthoma MONDO:0002093 DOID:4324 DOID:174 acanthoma MONDO:0002966 splenic manifestation of prolymphocytic leukemia MONDO:0004107 DOID:4334 DOID:710 splenic manifestation of leukemia MONDO:0002967 dermatophytosis of scalp or beard MONDO:0004678 DOID:4337 DOID:8913 dermatophytosis MONDO:0002968 lymphocele MONDO:0005833 DOID:4347 DOID:75 lymphatic system disorder MONDO:0002969 ciliary body cancer MONDO:0002658 DOID:4352 DOID:3478 iris cancer MONDO:0002970 ciliary body disorder MONDO:0002289 DOID:4353 DOID:240 iris disorder MONDO:0002971 amelanotic melanoma MONDO:0005105 DOID:4359 DOID:1909 melanoma MONDO:0002972 posterior mediastinum cancer MONDO:0005843 DOID:436 DOID:5559 mediastinal cancer MONDO:0002973 epithelioid cell melanoma MONDO:0005105 DOID:4360 DOID:1909 melanoma MONDO:0002974 cervical cancer MONDO:0002715 DOID:4362 DOID:363 uterine cancer MONDO:0002975 malignant breast melanoma MONDO:0007254 DOID:4364 DOID:1612 breast cancer MONDO:0002976 stomach diverticulosis MONDO:0004298 DOID:4370 DOID:76 stomach disorder MONDO:0002977 autoimmune disorder of the nervous system MONDO:0005071 DOID:438 DOID:863 nervous system disorder MONDO:0002977 autoimmune disorder of the nervous system MONDO:0007179 DOID:438 DOID:417 autoimmune disease MONDO:0002978 orbit alveolar rhabdomyosarcoma MONDO:0002580 DOID:4384 DOID:3259 orbit rhabdomyosarcoma MONDO:0002979 papillary squamous carcinoma MONDO:0005096 DOID:4385 DOID:1749 squamous cell carcinoma MONDO:0002984 reticulohistiocytic granuloma MONDO:0002637 DOID:4394 DOID:3405 histiocytosis MONDO:0002987 spongiotic dermatitis MONDO:0002406 DOID:4406 DOID:2723 dermatitis MONDO:0002988 cervix melanoma MONDO:0002974 DOID:4413 DOID:4362 cervical cancer MONDO:0002989 benign fibrous histiocytoma MONDO:0005509 DOID:4415 DOID:4231 histiocytoma MONDO:0002997 anterior cranial fossa meningioma MONDO:0016642 DOID:4436 DOID:3565 meningioma MONDO:0002998 skull base meningioma MONDO:0002785 DOID:4437 DOID:3842 skull base neoplasm MONDO:0002999 central nervous system germinoma MONDO:0003000 DOID:4438 DOID:4439 central nervous system germ cell tumor MONDO:0003004 macular degeneration MONDO:0004580 DOID:4448 DOID:8466 retinal degeneration MONDO:0003005 macular retinal edema MONDO:0004037 DOID:4449 DOID:6929 retinal edema MONDO:0003009 hyperaldosteronism MONDO:0006640 DOID:446 DOID:3947 adrenal gland hyperfunction MONDO:0003011 mucinous tubular and spindle renal cell carcinoma MONDO:0005086 DOID:4472 DOID:4450 renal cell carcinoma MONDO:0003014 rhinitis MONDO:0002232 DOID:4483 DOID:2163 nasal cavity disorder MONDO:0003017 malignant peritoneal solitary fibrous tumor MONDO:0002087 DOID:4490 DOID:1725 peritoneum cancer MONDO:0003021 central nervous system angiosarcoma MONDO:0002217 DOID:4504 DOID:2133 central nervous system sarcoma MONDO:0003022 pediatric angiosarcoma MONDO:0016982 DOID:4505 DOID:0001816 angiosarcoma MONDO:0003023 aorta angiosarcoma MONDO:0016982 DOID:4510 DOID:0001816 angiosarcoma MONDO:0003024 breast angiosarcoma MONDO:0002490 DOID:4511 DOID:3017 breast sarcoma MONDO:0003025 conventional angiosarcoma MONDO:0016982 DOID:4512 DOID:0001816 angiosarcoma MONDO:0003026 gallbladder angiosarcoma MONDO:0016982 DOID:4513 DOID:0001816 angiosarcoma MONDO:0003027 thyroid gland angiosarcoma MONDO:0003028 DOID:4514 DOID:4515 thyroid sarcoma MONDO:0003028 thyroid sarcoma MONDO:0002108 DOID:4515 DOID:1781 thyroid cancer MONDO:0003029 skin angiosarcoma MONDO:0006414 DOID:4517 DOID:2687 skin sarcoma MONDO:0003030 endometrioid stromal sarcoma of the cervix MONDO:0003031 DOID:4520 DOID:4521 endometrioid stromal and related neoplasms of the cervix MONDO:0003032 superior vena cava angiosarcoma MONDO:0004634 DOID:4522 DOID:866 vein disorder MONDO:0003032 superior vena cava angiosarcoma MONDO:0016982 DOID:4522 DOID:0001816 angiosarcoma MONDO:0003033 prostate angiosarcoma MONDO:0002854 DOID:4524 DOID:4054 prostate sarcoma MONDO:0003034 mediastinum angiosarcoma MONDO:0016982 DOID:4525 DOID:0001816 angiosarcoma MONDO:0003035 ovarian angiosarcoma MONDO:0016982 DOID:4527 DOID:0001816 angiosarcoma MONDO:0003037 hypotrichosis MONDO:0002917 DOID:4535 DOID:421 disorder of pilosebaceous unit MONDO:0003038 dysgraphia MONDO:0000599 DOID:4540 DOID:0060047 writing disorder MONDO:0003039 nominal aphasia MONDO:0000598 DOID:4541 DOID:0060046 aphasia MONDO:0003040 retrograde amnesia MONDO:0001152 DOID:4543 DOID:10914 amnestic disorder MONDO:0003041 pediatric mesenchymal chondrosarcoma MONDO:0006853 DOID:4546 DOID:4545 mesenchymal chondrosarcoma MONDO:0003042 adult mesenchymal chondrosarcoma MONDO:0006853 DOID:4547 DOID:4545 mesenchymal chondrosarcoma MONDO:0003045 anal gland neoplasm MONDO:0003046 DOID:4550 DOID:4551 anus neoplasm MONDO:0003046 anus neoplasm MONDO:0002519 DOID:4551 DOID:3128 anus disorder MONDO:0003049 ovarian large-cell neuroendocrine carcinoma MONDO:0005140 DOID:4555 DOID:4001 ovarian carcinoma MONDO:0003050 lung large cell carcinoma MONDO:0005233 DOID:4556 DOID:3908 non-small cell lung carcinoma MONDO:0003053 choroid plexus meningioma MONDO:0002681 DOID:4584 DOID:3540 choroid plexus cancer MONDO:0003055 secretory meningioma MONDO:0016642 DOID:4588 DOID:3565 meningioma MONDO:0003056 lymphoplasmacyte-rich meningioma MONDO:0016642 DOID:4591 DOID:3565 meningioma MONDO:0003057 pediatric meningioma MONDO:0016642 DOID:4593 DOID:3565 meningioma MONDO:0003058 microcystic meningioma MONDO:0016642 DOID:4594 DOID:3565 meningioma MONDO:0003059 bile duct cancer MONDO:0003060 DOID:4606 DOID:4607 biliary tract cancer MONDO:0003061 benign muscle neoplasm MONDO:0000636 DOID:461 DOID:0060099 musculoskeletal system benign neoplasm MONDO:0003064 inverted transitional cell papilloma MONDO:0005605 DOID:4630 DOID:2670 transitional cell papilloma MONDO:0003065 nasal cavity inverting papilloma MONDO:0004756 DOID:4633 DOID:9310 nasal cavity neoplasm MONDO:0003066 submandibular adenitis MONDO:0003067 DOID:4636 DOID:4637 cervical lymphadenitis MONDO:0003067 cervical lymphadenitis MONDO:0002052 DOID:4637 DOID:1602 lymphadenitis MONDO:0003068 postauricular lymphadenitis MONDO:0002052 DOID:4638 DOID:1602 lymphadenitis MONDO:0003069 suppurative lymphadenitis MONDO:0002052 DOID:4639 DOID:1602 lymphadenitis MONDO:0003070 axillary lymphadenitis MONDO:0002052 DOID:4640 DOID:1602 lymphadenitis MONDO:0003072 retinal cancer MONDO:0002236 DOID:4645 DOID:2174 ocular cancer MONDO:0003073 trilateral retinoblastoma MONDO:0008380 DOID:4647 DOID:768 retinoblastoma MONDO:0003075 bilateral retinoblastoma MONDO:0008380 DOID:4650 DOID:768 retinoblastoma MONDO:0003076 unilateral retinoblastoma MONDO:0008380 DOID:4651 DOID:768 retinoblastoma MONDO:0003077 intraocular retinoblastoma MONDO:0008380 DOID:4653 DOID:768 retinoblastoma MONDO:0003078 extraocular retinoblastoma MONDO:0008380 DOID:4656 DOID:768 retinoblastoma MONDO:0003081 thalamic disorder MONDO:0005560 DOID:4662 DOID:936 brain disorder MONDO:0003082 filamentary keratitis MONDO:0003085 DOID:4664 DOID:4677 keratitis MONDO:0003083 venous hemangioma MONDO:0006500 DOID:467 DOID:255 hemangioma MONDO:0003084 uremic neuropathy MONDO:0007008 DOID:4675 DOID:4676 uremia MONDO:0003085 keratitis MONDO:0000942 DOID:4677 DOID:10124 corneal disorder MONDO:0003086 thymic mucoepidermoid carcinoma MONDO:0003036 DOID:4678 DOID:4531 mucoepidermoid carcinoma MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma MONDO:0003036 DOID:4681 DOID:4531 mucoepidermoid carcinoma MONDO:0003091 cutaneous mucoepidermoid carcinoma MONDO:0002656 DOID:4683 DOID:3451 skin carcinoma MONDO:0003092 lacrimal gland mucoepidermoid carcinoma MONDO:0003036 DOID:4685 DOID:4531 mucoepidermoid carcinoma MONDO:0003095 laryngeal mucoepidermoid carcinoma MONDO:0003036 DOID:4688 DOID:4531 mucoepidermoid carcinoma MONDO:0003096 deep hemangioma MONDO:0006500 DOID:469 DOID:255 hemangioma MONDO:0003097 childhood mediastinal neurogenic neoplasm MONDO:0003098 DOID:4690 DOID:4691 mediastinal neural neoplasm MONDO:0003100 nerve plexus neoplasm MONDO:0001406 DOID:4693 DOID:1192 peripheral nervous system neoplasm MONDO:0003103 nerve root neoplasm MONDO:0001406 DOID:4698 DOID:1192 peripheral nervous system neoplasm MONDO:0003104 epicardium cancer MONDO:0001322 DOID:4699 DOID:116 pericardium cancer MONDO:0003105 prostate disorder MONDO:0003150 DOID:47 DOID:48 male reproductive system disorder MONDO:0003107 infratentorial cancer MONDO:0001657 DOID:4706 DOID:1319 brain cancer MONDO:0003109 foramen magnum meningioma MONDO:0002998 DOID:4708 DOID:4437 skull base meningioma MONDO:0003110 skin hemangioma MONDO:0006500 DOID:471 DOID:255 hemangioma MONDO:0003112 malignant gastric germ cell tumor MONDO:0001056 DOID:4716 DOID:10534 gastric cancer MONDO:0003115 subglottic hemangioma MONDO:0006500 DOID:472 DOID:255 hemangioma MONDO:0003117 somatoform disorder MONDO:0002025 DOID:4737 DOID:150 psychiatric disorder MONDO:0003120 mixed testicular germ cell cancer MONDO:0003510 DOID:4743 DOID:5556 malignant testicular germ cell tumor MONDO:0003121 middle cranial fossa meningioma MONDO:0016642 DOID:4749 DOID:3565 meningioma MONDO:0003122 striatonigral degeneration MONDO:0007803 DOID:4751 DOID:4752 multiple system atrophy MONDO:0003124 testicular Leydig cell tumor MONDO:0003125 DOID:4756 DOID:4757 testicular sex cord-stromal neoplasm MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0006055 DOID:4757 DOID:192 sex cord-stromal tumor MONDO:0003126 breast hemangioma MONDO:0000620 DOID:476 DOID:0060082 breast benign neoplasm MONDO:0003128 classic pulmonary blastoma MONDO:0005933 DOID:4767 DOID:4765 pulmonary blastoma MONDO:0003129 epithelial predominant pulmonary blastoma MONDO:0005933 DOID:4768 DOID:4765 pulmonary blastoma MONDO:0003133 exudative glomerulonephritis MONDO:0002462 DOID:4777 DOID:2921 glomerulonephritis MONDO:0003134 proliferative glomerulonephritis MONDO:0002462 DOID:4778 DOID:2921 glomerulonephritis MONDO:0003135 focal embolic glomerulonephritis MONDO:0002462 DOID:4779 DOID:2921 glomerulonephritis MONDO:0003137 diffuse glomerulonephritis MONDO:0002462 DOID:4781 DOID:2921 glomerulonephritis MONDO:0003138 subacute glomerulonephritis MONDO:0002462 DOID:4782 DOID:2921 glomerulonephritis MONDO:0003139 mesangial proliferative glomerulonephritis MONDO:0002462 DOID:4783 DOID:2921 glomerulonephritis MONDO:0003140 immune-complex glomerulonephritis MONDO:0002462 DOID:4784 DOID:2921 glomerulonephritis MONDO:0003141 cerebellopontine angle embryonal tumor MONDO:0002553 DOID:4787 DOID:3200 cerebellopontine angle tumor MONDO:0003142 intracranial primitive neuroectodermal tumor MONDO:0000640 DOID:4788 DOID:0060103 central nervous system primitive neuroectodermal neoplasm MONDO:0003143 angiokeratoma MONDO:0003110 DOID:479 DOID:471 skin hemangioma MONDO:0003145 supratentorial primitive neuroectodermal tumor MONDO:0002071 DOID:4791 DOID:1659 supratentorial cancer MONDO:0003147 space motion sickness MONDO:0008015 DOID:4796 DOID:2951 motion sickness MONDO:0003150 male reproductive system disorder MONDO:0005039 DOID:48 DOID:15 reproductive system disorder MONDO:0003152 adult brainstem gliosarcoma MONDO:0003153 DOID:4812 DOID:4813 adult brainstem glioma MONDO:0003153 adult brainstem glioma MONDO:0002911 DOID:4813 DOID:4202 brain stem glioma MONDO:0003154 hemangioma of peripheral nerve MONDO:0056804 DOID:482 DOID:0080320 benign neoplasm of peripheral nervous system MONDO:0003155 cavernous hemangioma MONDO:0003159 DOID:483 DOID:484 vascular hemostatic disease MONDO:0003157 disappearing bone disease MONDO:0002254 DOID:4837 DOID:225 syndromic disease MONDO:0003158 malignant myoepithelioma MONDO:0004993 DOID:4838 DOID:305 carcinoma MONDO:0003159 vascular hemostatic disease MONDO:0002243 DOID:484 DOID:2213 hemorrhagic disease MONDO:0003163 cauda equina intradural extramedullary astrocytoma MONDO:0003164 DOID:4846 DOID:4847 cauda equina neoplasm MONDO:0003165 cerebellar astrocytoma MONDO:0002913 DOID:4848 DOID:4205 cerebellar neoplasm MONDO:0003168 cerebellar pilocytic astrocytoma MONDO:0003165 DOID:4853 DOID:4848 cerebellar astrocytoma MONDO:0003169 diencephalic astrocytomas MONDO:0002786 DOID:4855 DOID:3843 diencephalic cancer MONDO:0003170 gliofibroma MONDO:0021636 DOID:4856 DOID:3069 astrocytic tumor MONDO:0003171 pineal gland astrocytoma MONDO:0003249 DOID:4858 DOID:5032 pineal gland cancer MONDO:0003172 glomeruloid hemangioma MONDO:0006500 DOID:486 DOID:255 hemangioma MONDO:0003173 brain stem astrocytic neoplasm MONDO:0002911 DOID:4860 DOID:4202 brain stem glioma MONDO:0003174 spinal cord astrocytoma MONDO:0002542 DOID:4863 DOID:3185 spinal cord glioma MONDO:0003175 salivary gland adenoid cystic carcinoma MONDO:0000521 DOID:4866 DOID:0050904 salivary gland carcinoma MONDO:0003184 trachea carcinoma MONDO:0001407 DOID:4876 DOID:11920 tracheal cancer MONDO:0003184 trachea carcinoma MONDO:0004993 DOID:4876 DOID:305 carcinoma MONDO:0003189 middle ear adenocarcinoma MONDO:0003190 DOID:4892 DOID:4893 middle ear carcinoma MONDO:0003189 middle ear adenocarcinoma MONDO:0004970 DOID:4892 DOID:299 adenocarcinoma MONDO:0003190 middle ear carcinoma MONDO:0003275 DOID:4893 DOID:5099 middle ear cancer MONDO:0003191 rete ovarii adenocarcinoma MONDO:0002752 DOID:4894 DOID:3713 ovarian adenocarcinoma MONDO:0003193 bile duct adenocarcinoma MONDO:0004970 DOID:4896 DOID:299 adenocarcinoma MONDO:0003193 bile duct adenocarcinoma MONDO:0005496 DOID:4896 DOID:4897 bile duct carcinoma MONDO:0003194 hemangioma of lung MONDO:0002732 DOID:490 DOID:3683 lung benign neoplasm MONDO:0003194 hemangioma of lung MONDO:0006500 DOID:490 DOID:255 hemangioma MONDO:0003195 peritoneal serous adenocarcinoma MONDO:0002113 DOID:4901 DOID:1791 peritoneal carcinoma MONDO:0003196 appendix carcinoma MONDO:0001235 DOID:4902 DOID:11239 appendix cancer MONDO:0003198 small intestine adenocarcinoma MONDO:0004970 DOID:4906 DOID:299 adenocarcinoma MONDO:0003198 small intestine adenocarcinoma MONDO:0005522 DOID:4906 DOID:4907 small intestine carcinoma MONDO:0003199 anal carcinoma MONDO:0001879 DOID:4908 DOID:14110 anus cancer MONDO:0003200 urethra adenocarcinoma MONDO:0004970 DOID:4910 DOID:299 adenocarcinoma MONDO:0003202 pituitary gland basophilic carcinoma MONDO:0017582 DOID:4915 DOID:4916 pituitary adenocarcinoma MONDO:0003204 villous adenocarcinoma MONDO:0004970 DOID:4917 DOID:299 adenocarcinoma MONDO:0003205 renal pelvis adenocarcinoma MONDO:0005519 DOID:4918 DOID:4919 renal pelvis carcinoma MONDO:0003206 acquired hemangioma MONDO:0006500 DOID:492 DOID:255 hemangioma MONDO:0003209 thymus gland adenocarcinoma MONDO:0004970 DOID:4923 DOID:299 adenocarcinoma MONDO:0003209 thymus gland adenocarcinoma MONDO:0006451 DOID:4923 DOID:3284 thymic carcinoma MONDO:0003210 intrahepatic cholangiocarcinoma MONDO:0019087 DOID:4928 DOID:4947 cholangiocarcinoma MONDO:0003211 nasal cavity adenocarcinoma MONDO:0003212 DOID:4930 DOID:4931 nasal cavity carcinoma MONDO:0003211 nasal cavity adenocarcinoma MONDO:0004970 DOID:4930 DOID:299 adenocarcinoma MONDO:0003212 nasal cavity carcinoma MONDO:0001128 DOID:4931 DOID:10811 nasal cavity cancer MONDO:0003214 apocrine adenocarcinoma MONDO:0003215 DOID:4933 DOID:4934 apocrine sweat gland cancer MONDO:0003215 apocrine sweat gland cancer MONDO:0002206 DOID:4934 DOID:2095 sweat gland cancer MONDO:0003216 ureter adenocarcinoma MONDO:0004970 DOID:4938 DOID:299 adenocarcinoma MONDO:0003216 ureter adenocarcinoma MONDO:0006481 DOID:4938 DOID:4939 ureter carcinoma MONDO:0003218 adenocarcinoma in situ MONDO:0004647 DOID:4943 DOID:8719 in situ carcinoma MONDO:0003220 gallbladder carcinoma MONDO:0005411 DOID:4948 DOID:3121 gallbladder cancer MONDO:0003222 central nervous system melanocytic neoplasm MONDO:0002714 DOID:4955 DOID:3620 central nervous system cancer MONDO:0003223 meninges hemangiopericytoma MONDO:0005094 DOID:4957 DOID:264 hemangiopericytoma MONDO:0003225 bone marrow disorder MONDO:0005570 DOID:4961 DOID:74 hematologic disorder MONDO:0003227 prosopagnosia MONDO:0005638 DOID:4970 DOID:4090 agnosia MONDO:0003231 acute nonparalytic poliomyelitis MONDO:0017373 DOID:4986 DOID:4953 poliomyelitis MONDO:0003232 alcoholic pancreatitis MONDO:0004982 DOID:4988 DOID:4989 pancreatitis MONDO:0003233 essential tremor MONDO:0005395 DOID:4990 DOID:480 movement disorder MONDO:0003234 optic nerve astrocytoma MONDO:0003235 DOID:4991 DOID:4992 optic nerve glioma MONDO:0003235 optic nerve glioma MONDO:0002640 DOID:4992 DOID:3419 optic nerve neoplasm MONDO:0003236 atypical polypoid adenomyoma MONDO:0005635 DOID:4993 DOID:2609 adenomyoma MONDO:0003240 thyroid gland disorder MONDO:0005151 DOID:50 DOID:28 endocrine system disorder MONDO:0003241 central nervous system hemangioma MONDO:0000628 DOID:501 DOID:0060090 central nervous system organ benign neoplasm MONDO:0003241 central nervous system hemangioma MONDO:0006500 DOID:501 DOID:255 hemangioma MONDO:0003243 hepatocellular clear cell carcinoma MONDO:0007256 DOID:5016 DOID:684 hepatocellular carcinoma MONDO:0003245 aflatoxin-related hepatocellular carcinoma MONDO:0007256 DOID:5022 DOID:684 hepatocellular carcinoma MONDO:0003246 sclerosing hepatic carcinoma MONDO:0007256 DOID:5026 DOID:684 hepatocellular carcinoma MONDO:0003249 pineal gland cancer MONDO:0021069 DOID:5032 DOID:170 malignant endocrine neoplasm MONDO:0003256 neurohypophysis granular cell tumor MONDO:0003257 DOID:5047 DOID:5048 posterior pituitary gland neoplasm MONDO:0003258 hobnail hemangioma MONDO:0006500 DOID:505 DOID:255 hemangioma MONDO:0003260 adult cerebellar neoplasm MONDO:0002913 DOID:5056 DOID:4205 cerebellar neoplasm MONDO:0003261 papillary meningioma of the cerebellum MONDO:0002913 DOID:5057 DOID:4205 cerebellar neoplasm MONDO:0003262 rhabdoid meningioma MONDO:0016642 DOID:5058 DOID:3565 meningioma MONDO:0003263 childhood cerebellar neoplasm MONDO:0002913 DOID:5059 DOID:4205 cerebellar neoplasm MONDO:0003264 basosquamous carcinoma MONDO:0005341 DOID:5063 DOID:2513 skin basal cell carcinoma MONDO:0003271 iodine hypothyroidism MONDO:0005420 DOID:5083 DOID:1459 hypothyroidism MONDO:0003273 sternum cancer MONDO:0002129 DOID:5090 DOID:184 bone cancer MONDO:0003274 thoracic cancer MONDO:0004992 DOID:5093 DOID:0050686 cancer MONDO:0003275 middle ear cancer MONDO:0003277 DOID:5099 DOID:5101 malignant ear neoplasm MONDO:0003276 middle ear disorder MONDO:0002409 DOID:5100 DOID:2742 auditory system disorder MONDO:0003278 inner ear cancer MONDO:0003277 DOID:5102 DOID:5101 malignant ear neoplasm MONDO:0003279 testicular infarct MONDO:0002329 DOID:5104 DOID:2519 testicular disorder MONDO:0003282 ovarian cyst MONDO:0005558 DOID:5119 DOID:1100 ovarian disorder MONDO:0003284 mediastinum leiomyoma MONDO:0001572 DOID:5123 DOID:127 leiomyoma MONDO:0003285 fallopian tube leiomyoma MONDO:0000645 DOID:5124 DOID:0060111 fallopian tube benign neoplasm MONDO:0003285 fallopian tube leiomyoma MONDO:0001572 DOID:5124 DOID:127 leiomyoma MONDO:0003287 central nervous system leiomyoma MONDO:0000628 DOID:5126 DOID:0060090 central nervous system organ benign neoplasm MONDO:0003287 central nervous system leiomyoma MONDO:0001572 DOID:5126 DOID:127 leiomyoma MONDO:0003288 bizarre leiomyoma MONDO:0001572 DOID:5127 DOID:127 leiomyoma MONDO:0003289 deep leiomyoma MONDO:0001572 DOID:5128 DOID:127 leiomyoma MONDO:0003290 simple partial epilepsy MONDO:0005384 DOID:5129 DOID:2234 focal epilepsy MONDO:0003291 leiomyoma cutis MONDO:0002300 DOID:5132 DOID:2438 dermis tumor MONDO:0003293 lung leiomyoma MONDO:0001572 DOID:5136 DOID:127 leiomyoma MONDO:0003293 lung leiomyoma MONDO:0002732 DOID:5136 DOID:3683 lung benign neoplasm MONDO:0003294 pericardium leiomyoma MONDO:0001572 DOID:5137 DOID:127 leiomyoma MONDO:0003295 leiomyomatosis MONDO:0001572 DOID:5138 DOID:127 leiomyoma MONDO:0003296 cellular leiomyoma MONDO:0001572 DOID:5139 DOID:127 leiomyoma MONDO:0003297 gallbladder leiomyoma MONDO:0001572 DOID:5140 DOID:127 leiomyoma MONDO:0003297 gallbladder leiomyoma MONDO:0021503 DOID:5140 DOID:0080640 benign neoplasm of gallbladder MONDO:0003298 vulvar leiomyoma MONDO:0000643 DOID:5142 DOID:0060109 vulvar benign neoplasm MONDO:0003299 colorectal leiomyoma MONDO:0001572 DOID:5143 DOID:127 leiomyoma MONDO:0003302 epithelioid neurofibroma MONDO:0016755 DOID:5149 DOID:962 neurofibroma MONDO:0003303 neurofibroma of gallbladder MONDO:0005411 DOID:5150 DOID:3121 gallbladder cancer MONDO:0003303 neurofibroma of gallbladder MONDO:0016755 DOID:5150 DOID:962 neurofibroma MONDO:0003304 plexiform neurofibroma MONDO:0016755 DOID:5151 DOID:962 neurofibroma MONDO:0003305 cellular neurofibroma MONDO:0016755 DOID:5152 DOID:962 neurofibroma MONDO:0003306 atypical neurofibroma MONDO:0016755 DOID:5153 DOID:962 neurofibroma MONDO:0003307 multiple mucosal neuroma MONDO:0002173 DOID:5155 DOID:2001 neuroma MONDO:0003310 Monckeberg arteriosclerosis MONDO:0002277 DOID:5161 DOID:2349 arteriosclerosis disorder MONDO:0003313 endometrioid stromal sarcoma of the vagina MONDO:0002140 DOID:5170 DOID:1901 vagina sarcoma MONDO:0003317 metachronous kidney Wilms' tumor MONDO:0019004 DOID:5178 DOID:2154 kidney Wilms tumor MONDO:0003318 mixed cell type kidney Wilms' tumor MONDO:0019004 DOID:5179 DOID:2154 kidney Wilms tumor MONDO:0003320 blastema predominant kidney Wilms tumor MONDO:0019004 DOID:5182 DOID:2154 kidney Wilms tumor MONDO:0003321 hereditary Wilms tumor MONDO:0019004 DOID:5183 DOID:2154 kidney Wilms tumor MONDO:0003322 epithelial predominant Wilms' tumor MONDO:0019004 DOID:5189 DOID:2154 kidney Wilms tumor MONDO:0003325 nodular ganglioneuroblastoma MONDO:0005035 DOID:5193 DOID:4163 ganglioneuroblastoma MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma MONDO:0005035 DOID:5194 DOID:4163 ganglioneuroblastoma MONDO:0003327 peripheral ganglioneuroblastoma MONDO:0005035 DOID:5195 DOID:4163 ganglioneuroblastoma MONDO:0003328 fallopian tube adenomatoid tumor MONDO:0000645 DOID:5196 DOID:0060111 fallopian tube benign neoplasm MONDO:0003329 ureteral obstruction MONDO:0001926 DOID:5199 DOID:1426 ureteral disorder MONDO:0003329 ureteral obstruction MONDO:0003330 DOID:5199 DOID:5200 urinary tract obstruction MONDO:0003330 urinary tract obstruction MONDO:0002118 DOID:5200 DOID:18 urinary system disorder MONDO:0003331 ovarian monodermal teratoma MONDO:0005602 DOID:5207 DOID:5567 ovarian teratoma MONDO:0003334 demyelinating polyneuropathy MONDO:0001824 DOID:5214 DOID:1389 polyneuropathy MONDO:0003335 chronic polyneuropathy MONDO:0001824 DOID:5221 DOID:1389 polyneuropathy MONDO:0003340 malignant glomus tumor MONDO:0018327 DOID:5233 DOID:2431 glomus tumor MONDO:0003345 hilar cholangiocarcinoma MONDO:0003210 DOID:4927 DOID:4928 intrahepatic cholangiocarcinoma MONDO:0003346 central nervous system vasculitis MONDO:0002602 DOID:525 DOID:331 central nervous system disorder MONDO:0003346 central nervous system vasculitis MONDO:0018882 DOID:525 DOID:865 vasculitis MONDO:0003347 inflammatory leiomyosarcoma MONDO:0005058 DOID:5251 DOID:1967 leiomyosarcoma MONDO:0003348 conventional leiomyosarcoma MONDO:0005058 DOID:5253 DOID:1967 leiomyosarcoma MONDO:0003349 central nervous system leiomyosarcoma MONDO:0005058 DOID:5254 DOID:1967 leiomyosarcoma MONDO:0003351 colon leiomyosarcoma MONDO:0005058 DOID:5259 DOID:1967 leiomyosarcoma MONDO:0003352 colon sarcoma MONDO:0005089 DOID:5260 DOID:1115 sarcoma MONDO:0003352 colon sarcoma MONDO:0021063 DOID:5260 DOID:219 malignant colon neoplasm MONDO:0003353 heart leiomyosarcoma MONDO:0003354 DOID:5261 DOID:5262 heart sarcoma MONDO:0003354 heart sarcoma MONDO:0001340 DOID:5262 DOID:117 heart cancer MONDO:0003355 ovary leiomyosarcoma MONDO:0005058 DOID:5263 DOID:1967 leiomyosarcoma MONDO:0003356 epithelioid leiomyosarcoma MONDO:0005058 DOID:5264 DOID:1967 leiomyosarcoma MONDO:0003357 lung leiomyosarcoma MONDO:0005058 DOID:5265 DOID:1967 leiomyosarcoma MONDO:0003359 myxoid leiomyosarcoma MONDO:0005058 DOID:5268 DOID:1967 leiomyosarcoma MONDO:0003360 small intestine leiomyosarcoma MONDO:0005058 DOID:5271 DOID:1967 leiomyosarcoma MONDO:0003361 small intestinal sarcoma MONDO:0000956 DOID:5272 DOID:10154 small intestine cancer MONDO:0003362 cutaneous leiomyosarcoma MONDO:0006414 DOID:5273 DOID:2687 skin sarcoma MONDO:0003363 malignant dermis tumor MONDO:0002898 DOID:5274 DOID:4159 skin cancer MONDO:0003364 gallbladder leiomyosarcoma MONDO:0005058 DOID:5275 DOID:1967 leiomyosarcoma MONDO:0003365 esophagus leiomyosarcoma MONDO:0001204 DOID:5276 DOID:1114 esophagus sarcoma MONDO:0003366 hydrarthrosis MONDO:0006816 DOID:528 DOID:381 arthropathy MONDO:0003367 gastric leiomyosarcoma MONDO:0001056 DOID:5280 DOID:10534 gastric cancer MONDO:0003368 prostate leiomyosarcoma MONDO:0002854 DOID:5282 DOID:4054 prostate sarcoma MONDO:0003369 vagina leiomyosarcoma MONDO:0002140 DOID:5283 DOID:1901 vagina sarcoma MONDO:0003370 retroperitoneal leiomyosarcoma MONDO:0001501 DOID:5284 DOID:12341 retroperitoneal sarcoma MONDO:0003371 breast leiomyosarcoma MONDO:0002490 DOID:5285 DOID:3017 breast sarcoma MONDO:0003372 vulvar leiomyosarcoma MONDO:0005214 DOID:5286 DOID:2096 vulva sarcoma MONDO:0003373 kidney leiomyosarcoma MONDO:0002930 DOID:5287 DOID:4242 kidney sarcoma MONDO:0003374 laryngeal leiomyosarcoma MONDO:0005058 DOID:5288 DOID:1967 leiomyosarcoma MONDO:0003376 mediastinum leiomyosarcoma MONDO:0005058 DOID:5292 DOID:1967 leiomyosarcoma MONDO:0003377 extrahepatic bile duct leiomyosarcoma MONDO:0003090 DOID:5293 DOID:4682 extrahepatic bile duct carcinoma MONDO:0003378 liver leiomyosarcoma MONDO:0002397 DOID:5296 DOID:270 liver sarcoma MONDO:0003379 rectum leiomyosarcoma MONDO:0002168 DOID:5297 DOID:1995 rectum sarcoma MONDO:0003381 pituitary gland disorder MONDO:0005151 DOID:53 DOID:28 endocrine system disorder MONDO:0003383 fallopian tube clear cell adenocarcinoma MONDO:0002746 DOID:5301 DOID:3706 fallopian tube adenocarcinoma MONDO:0003384 uterine ligament clear cell adenocarcinoma MONDO:0002741 DOID:5302 DOID:3700 uterine ligament adenocarcinoma MONDO:0003386 bladder clear cell adenocarcinoma MONDO:0002751 DOID:5306 DOID:3711 bladder adenocarcinoma MONDO:0003387 urethra clear cell adenocarcinoma MONDO:0003200 DOID:5307 DOID:4910 urethra adenocarcinoma MONDO:0003388 ampulla of vater clear cell adenocarcinoma MONDO:0002670 DOID:5308 DOID:3502 ampulla of vater adenocarcinoma MONDO:0003390 glycogen-rich clear cell breast carcinoma MONDO:0045055 DOID:5310 DOID:0081028 glycogen-rich carcinoma MONDO:0003391 vulvar alveolar soft part sarcoma MONDO:0005214 DOID:5313 DOID:2096 vulva sarcoma MONDO:0003392 fallopian tube germ cell tumor MONDO:0005040 DOID:5324 DOID:2994 germ cell tumor MONDO:0003394 dental pulp disorder MONDO:0006999 DOID:5330 DOID:1091 tooth disorder MONDO:0003395 testicular granulosa cell tumor MONDO:0006036 DOID:5331 DOID:2999 granulosa cell tumor MONDO:0003396 epulis MONDO:0002507 DOID:5337 DOID:3086 gingival overgrowth MONDO:0003397 gingival hypertrophy MONDO:0002507 DOID:5338 DOID:3086 gingival overgrowth MONDO:0003398 anterograde amnesia MONDO:0001152 DOID:5340 DOID:10914 amnestic disorder MONDO:0003399 pineal region yolk sac tumor MONDO:0002073 DOID:5341 DOID:1660 malignant pineal area germ cell neoplasm MONDO:0003400 childhood endodermal sinus tumor MONDO:0005744 DOID:5342 DOID:1911 yolk sac tumor MONDO:0003402 testicular yolk sac tumor MONDO:0003403 DOID:5344 DOID:5345 testicular non-seminomatous germ cell cancer MONDO:0003403 testicular non-seminomatous germ cell cancer MONDO:0003510 DOID:5345 DOID:5556 malignant testicular germ cell tumor MONDO:0003404 adult yolk sac tumor MONDO:0005744 DOID:5348 DOID:1911 yolk sac tumor MONDO:0003405 adult central nervous system germ cell tumor MONDO:0003000 DOID:5349 DOID:4439 central nervous system germ cell tumor MONDO:0003408 ovarian primitive germ cell tumor MONDO:0018171 DOID:5351 DOID:2155 malignant germ cell tumor of ovary MONDO:0003410 Wolffian duct adenocarcinoma MONDO:0005153 DOID:5368 DOID:3702 cervical adenocarcinoma MONDO:0003412 retroperitoneal hemangiopericytoma MONDO:0005094 DOID:5373 DOID:264 hemangiopericytoma MONDO:0003417 internuclear ophthalmoplegia MONDO:0003425 DOID:538 DOID:539 ophthalmoplegia MONDO:0003417 internuclear ophthalmoplegia MONDO:0003432 DOID:538 DOID:540 strabismus MONDO:0003419 Bartholin gland adenoma MONDO:0002193 DOID:5382 DOID:2068 Bartholin gland benign neoplasm MONDO:0003419 Bartholin gland adenoma MONDO:0004972 DOID:5382 DOID:657 adenoma MONDO:0003421 mixed cell adenoma MONDO:0004972 DOID:5385 DOID:657 adenoma MONDO:0003422 lung adenoma MONDO:0002732 DOID:5386 DOID:3683 lung benign neoplasm MONDO:0003422 lung adenoma MONDO:0004972 DOID:5386 DOID:657 adenoma MONDO:0003425 ophthalmoplegia MONDO:0001584 DOID:539 DOID:1279 ocular motility disease MONDO:0003426 clear cell adenoma MONDO:0004972 DOID:5390 DOID:657 adenoma MONDO:0003427 bronchus adenoma MONDO:0002807 DOID:5391 DOID:3906 bronchial neoplasm MONDO:0003429 functioning pituitary gland adenoma MONDO:0006373 DOID:5395 DOID:3829 pituitary gland adenoma MONDO:0003431 lipoadenoma MONDO:0004972 DOID:5398 DOID:657 adenoma MONDO:0003432 strabismus MONDO:0001584 DOID:540 DOID:1279 ocular motility disease MONDO:0003433 water-clear cell adenoma MONDO:0004972 DOID:5401 DOID:657 adenoma MONDO:0003434 vaginal adenoma MONDO:0004972 DOID:5402 DOID:657 adenoma MONDO:0003437 occult small cell lung carcinoma MONDO:0008433 DOID:5414 DOID:5409 small cell lung carcinoma MONDO:0003438 combined small cell lung carcinoma MONDO:0008433 DOID:5421 DOID:5409 small cell lung carcinoma MONDO:0003442 bladder papillary urothelial neoplasm MONDO:0003443 DOID:5432 DOID:5433 papillary urothelial neoplasm MONDO:0003444 intrahepatic bile duct adenoma MONDO:0006108 DOID:5437 DOID:5381 bile duct adenoma MONDO:0003445 extrahepatic bile duct adenoma MONDO:0006108 DOID:5438 DOID:5381 bile duct adenoma MONDO:0003446 papillary hidradenoma MONDO:0002805 DOID:5439 DOID:3896 hidradenoma MONDO:0003447 clear cell hidradenoma MONDO:0002805 DOID:5443 DOID:3896 hidradenoma MONDO:0003450 eccrine papillary adenoma MONDO:0002090 DOID:5446 DOID:173 eccrine sweat gland neoplasm MONDO:0003452 cochlear disorder MONDO:0002467 DOID:5463 DOID:2952 inner ear disorder MONDO:0003454 conjunctival cancer MONDO:0002236 DOID:5467 DOID:2174 ocular cancer MONDO:0003458 uterine corpus adenofibroma MONDO:0006071 DOID:5475 DOID:2683 adenofibroma MONDO:0003459 cervical adenofibroma MONDO:0000644 DOID:5476 DOID:0060110 cervical benign neoplasm MONDO:0003460 clear cell adenofibroma MONDO:0006071 DOID:5477 DOID:2683 adenofibroma MONDO:0003461 fallopian tube serous adenofibroma MONDO:0000645 DOID:5478 DOID:0060111 fallopian tube benign neoplasm MONDO:0003462 papillary adenofibroma MONDO:0006071 DOID:5479 DOID:2683 adenofibroma MONDO:0003463 ovarian endometrioid adenofibroma MONDO:0000646 DOID:5480 DOID:0060112 ovarian benign neoplasm MONDO:0003464 cystadenofibroma MONDO:0006071 DOID:5482 DOID:2683 adenofibroma MONDO:0003465 fibrous synovial sarcoma MONDO:0010434 DOID:5484 DOID:5485 synovial sarcoma MONDO:0003467 mediastinum synovial sarcoma MONDO:0010434 DOID:5488 DOID:5485 synovial sarcoma MONDO:0003468 biphasic synovial sarcoma MONDO:0010434 DOID:5492 DOID:5485 synovial sarcoma MONDO:0003470 cellular ependymoma MONDO:0016698 DOID:5500 DOID:4844 ependymoma MONDO:0003471 Pediculus humanus capitis infestation MONDO:0003472 DOID:5501 DOID:5502 lice infestation MONDO:0003472 lice infestation MONDO:0002875 DOID:5502 DOID:4110 parasitic ectoparasitic infectious disease MONDO:0003474 tanycytic ependymoma MONDO:0016698 DOID:5504 DOID:4844 ependymoma MONDO:0003475 papillary ependymoma MONDO:0016698 DOID:5505 DOID:4844 ependymoma MONDO:0003476 clear cell ependymoma MONDO:0016698 DOID:5507 DOID:4844 ependymoma MONDO:0003480 pineal region dysgerminoma MONDO:0002073 DOID:5510 DOID:1660 malignant pineal area germ cell neoplasm MONDO:0003481 dysgerminoma of ovary MONDO:0003002 DOID:5511 DOID:4441 dysgerminoma MONDO:0003482 Pediculus humanus corporis infestation MONDO:0003472 DOID:5513 DOID:5502 lice infestation MONDO:0003486 basaloid squamous cell carcinoma MONDO:0005096 DOID:5522 DOID:1749 squamous cell carcinoma MONDO:0003487 pseudoglandular squamous cell carcinoma MONDO:0005096 DOID:5524 DOID:1749 squamous cell carcinoma MONDO:0003490 ampulla of vater squamous cell carcinoma MONDO:0017590 DOID:5527 DOID:4932 carcinoma of the ampulla of vater MONDO:0003492 lacrimal gland squamous cell carcinoma MONDO:0002463 DOID:5529 DOID:293 lacrimal gland carcinoma MONDO:0003493 thymus squamous cell carcinoma MONDO:0005096 DOID:5530 DOID:1749 squamous cell carcinoma MONDO:0003493 thymus squamous cell carcinoma MONDO:0006451 DOID:5530 DOID:3284 thymic carcinoma MONDO:0003494 ovarian squamous cell carcinoma MONDO:0005096 DOID:5531 DOID:1749 squamous cell carcinoma MONDO:0003497 renal pelvis squamous cell carcinoma MONDO:0005096 DOID:5534 DOID:1749 squamous cell carcinoma MONDO:0003497 renal pelvis squamous cell carcinoma MONDO:0005519 DOID:5534 DOID:4919 renal pelvis carcinoma MONDO:0003499 sarcomatoid squamous cell skin carcinoma MONDO:0002529 DOID:5536 DOID:3151 skin squamous cell carcinoma MONDO:0003500 squamous cell bile duct carcinoma MONDO:0005496 DOID:5537 DOID:4897 bile duct carcinoma MONDO:0003501 external ear squamous cell carcinoma MONDO:0002944 DOID:5538 DOID:4288 external ear carcinoma MONDO:0003502 ureter squamous cell carcinoma MONDO:0005096 DOID:5539 DOID:1749 squamous cell carcinoma MONDO:0003502 ureter squamous cell carcinoma MONDO:0006481 DOID:5539 DOID:4939 ureter carcinoma MONDO:0003503 fallopian tube squamous cell carcinoma MONDO:0005096 DOID:5540 DOID:1749 squamous cell carcinoma MONDO:0003503 fallopian tube squamous cell carcinoma MONDO:0006206 DOID:5540 DOID:1963 fallopian tube carcinoma MONDO:0003506 pulmonary artery choriocarcinoma MONDO:0005207 DOID:5547 DOID:3594 choriocarcinoma MONDO:0003507 choriocarcinoma of ovary MONDO:0005207 DOID:5550 DOID:3594 choriocarcinoma MONDO:0003507 choriocarcinoma of ovary MONDO:0018171 DOID:5550 DOID:2155 malignant germ cell tumor of ovary MONDO:0003508 choriocarcinoma of testis MONDO:0005207 DOID:5551 DOID:3594 choriocarcinoma MONDO:0003509 pineal region choriocarcinoma MONDO:0002073 DOID:5553 DOID:1660 malignant pineal area germ cell neoplasm MONDO:0003510 malignant testicular germ cell tumor MONDO:0010108 DOID:5556 DOID:5557 testicular germ cell tumor MONDO:0003514 malignant teratoma MONDO:0002601 DOID:5563 DOID:3307 teratoma MONDO:0003517 mature teratoma MONDO:0002601 DOID:5566 DOID:3307 teratoma MONDO:0003529 acute pyelonephritis MONDO:0006939 DOID:559 DOID:11400 pyelonephritis MONDO:0003531 papillary eccrine carcinoma MONDO:0024240 DOID:5591 DOID:4920 eccrine carcinoma MONDO:0003534 papillary thymic adenocarcinoma MONDO:0003209 DOID:5595 DOID:4923 thymus gland adenocarcinoma MONDO:0003535 fallopian tube papillary adenocarcinoma MONDO:0002746 DOID:5597 DOID:3706 fallopian tube adenocarcinoma MONDO:0003539 T-cell adult acute lymphocytic leukemia MONDO:0003541 DOID:5602 DOID:5604 adult acute lymphoblastic leukemia MONDO:0003541 adult acute lymphoblastic leukemia MONDO:0004967 DOID:5604 DOID:9952 acute lymphoblastic leukemia MONDO:0003542 dental pulp calcification MONDO:0003394 DOID:5608 DOID:5330 dental pulp disorder MONDO:0003543 trigeminal nerve disorder MONDO:0003569 DOID:561 DOID:5656 cranial nerve neuropathy MONDO:0003544 spinal cord cancer MONDO:0002714 DOID:5612 DOID:3620 central nervous system cancer MONDO:0003546 third cranial nerve disorder MONDO:0003569 DOID:562 DOID:5656 cranial nerve neuropathy MONDO:0003557 optic nerve sheath meningioma MONDO:0002640 DOID:5632 DOID:3419 optic nerve neoplasm MONDO:0003561 malignant giant cell tumor of soft parts MONDO:0002402 DOID:5638 DOID:2705 malignant giant cell tumor MONDO:0003563 diffuse pulmonary fibrosis MONDO:0002771 DOID:5641 DOID:3770 pulmonary fibrosis MONDO:0003564 localized pulmonary fibrosis MONDO:0002771 DOID:5642 DOID:3770 pulmonary fibrosis MONDO:0003573 pleomorphic carcinoma MONDO:0006406 DOID:5662 DOID:4015 sarcomatoid carcinoma MONDO:0003574 external ear cancer MONDO:0003277 DOID:5665 DOID:5101 malignant ear neoplasm MONDO:0003579 retinal nerve fiber layer disorder MONDO:0001834 DOID:5678 DOID:1393 visual pathway disorder MONDO:0003579 retinal nerve fiber layer disorder MONDO:0005283 DOID:5678 DOID:5679 retinal disorder MONDO:0003581 ovarian embryonal carcinoma MONDO:0005440 DOID:5681 DOID:3308 embryonal carcinoma MONDO:0003582 hereditary breast ovarian cancer syndrome MONDO:0000426 DOID:5683 DOID:0050736 autosomal dominant disease MONDO:0003584 visual cortex disorder MONDO:0001834 DOID:5691 DOID:1393 visual pathway disorder MONDO:0003585 adult liposarcoma MONDO:0005060 DOID:5693 DOID:3382 liposarcoma MONDO:0003586 esophagus liposarcoma MONDO:0005060 DOID:5694 DOID:3382 liposarcoma MONDO:0003587 pediatric liposarcoma MONDO:0005060 DOID:5695 DOID:3382 liposarcoma MONDO:0003588 larynx liposarcoma MONDO:0005060 DOID:5696 DOID:3382 liposarcoma MONDO:0003589 liposarcoma of the ovary MONDO:0005060 DOID:5697 DOID:3382 liposarcoma MONDO:0003590 fibroblastic liposarcoma MONDO:0005060 DOID:5698 DOID:3382 liposarcoma MONDO:0003591 kidney liposarcoma MONDO:0005060 DOID:5699 DOID:3382 liposarcoma MONDO:0003592 gastric liposarcoma MONDO:0001056 DOID:5700 DOID:10534 gastric cancer MONDO:0003593 breast liposarcoma MONDO:0002490 DOID:5701 DOID:3017 breast sarcoma MONDO:0003594 mixed liposarcoma MONDO:0005060 DOID:5703 DOID:3382 liposarcoma MONDO:0003599 vulvar liposarcoma MONDO:0005060 DOID:5711 DOID:3382 liposarcoma MONDO:0003600 cutaneous liposarcoma MONDO:0006414 DOID:5712 DOID:2687 skin sarcoma MONDO:0003601 mediastinum liposarcoma MONDO:0005060 DOID:5713 DOID:3382 liposarcoma MONDO:0003602 intracranial liposarcoma MONDO:0005060 DOID:5714 DOID:3382 liposarcoma MONDO:0003606 adrenal medulla cancer MONDO:0002817 DOID:5719 DOID:3953 adrenal gland cancer MONDO:0003608 optic atrophy MONDO:0002135 DOID:5723 DOID:1891 optic nerve disorder MONDO:0003609 seminal vesicle cystadenoma MONDO:0002790 DOID:5724 DOID:3855 seminal vesicle tumor MONDO:0003610 rete ovarii cystadenoma MONDO:0004005 DOID:5725 DOID:6837 rete ovarii adenoma MONDO:0003616 salpingitis isthmica nodosa MONDO:0003617 DOID:5730 DOID:5731 chronic salpingitis MONDO:0003617 chronic salpingitis MONDO:0003619 DOID:5731 DOID:5733 salpingitis MONDO:0003618 pyosalpinx MONDO:0003619 DOID:5732 DOID:5733 salpingitis MONDO:0003619 salpingitis MONDO:0002156 DOID:5733 DOID:1962 fallopian tube disorder MONDO:0003620 peripheral nervous system disorder MONDO:0005071 DOID:574 DOID:863 nervous system disorder MONDO:0003626 uterine ligament serous adenocarcinoma MONDO:0002741 DOID:5747 DOID:3700 uterine ligament adenocarcinoma MONDO:0003627 rheumatic pulmonary valve disease MONDO:0000603 DOID:5748 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:0003627 rheumatic pulmonary valve disease MONDO:0003628 DOID:5748 DOID:5749 pulmonary valve disorder MONDO:0003628 pulmonary valve disorder MONDO:0002869 DOID:5749 DOID:4079 heart valve disorder MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0002867 DOID:5751 DOID:4073 pancreatic cystadenocarcinoma MONDO:0003631 cervical serous adenocarcinoma MONDO:0005153 DOID:5752 DOID:3702 cervical adenocarcinoma MONDO:0003632 endocervicitis MONDO:0002345 DOID:5757 DOID:2568 cervicitis MONDO:0003633 malignant mesenchymoma MONDO:0006854 DOID:5758 DOID:2668 mesenchymoma MONDO:0003634 proteinuria MONDO:0005240 DOID:576 DOID:557 kidney disorder MONDO:0003637 clear cell-sugar-tumor of the lung MONDO:0002732 DOID:5763 DOID:3683 lung benign neoplasm MONDO:0003638 lung meningioma MONDO:0008903 DOID:5764 DOID:1324 lung cancer MONDO:0003638 lung meningioma MONDO:0016642 DOID:5764 DOID:3565 meningioma MONDO:0003643 giant hemangioma MONDO:0003155 DOID:5774 DOID:483 cavernous hemangioma MONDO:0003644 cavernous hemangioma of colon MONDO:0003155 DOID:5775 DOID:483 cavernous hemangioma MONDO:0003645 cavernous hemangioma of face MONDO:0003155 DOID:5776 DOID:483 cavernous hemangioma MONDO:0003647 atrophic flaccid tympanic membrane MONDO:0003648 DOID:5781 DOID:5782 tympanic membrane disorder MONDO:0003648 tympanic membrane disorder MONDO:0003276 DOID:5782 DOID:5100 middle ear disorder MONDO:0003650 mixed hepatoblastoma MONDO:0018666 DOID:5789 DOID:687 hepatoblastoma MONDO:0003651 macrotrabecular hepatoblastoma MONDO:0018666 DOID:5798 DOID:687 hepatoblastoma MONDO:0003652 acute urate nephropathy MONDO:0008171 DOID:580 DOID:585 nephrolithiasis MONDO:0003654 childhood parosteal osteosarcoma MONDO:0006817 DOID:5809 DOID:3373 juxtacortical osteosarcoma MONDO:0003655 cerebral lymphoma MONDO:0002731 DOID:5815 DOID:368 cerebral hemisphere cancer MONDO:0003656 hemoglobinuria MONDO:0003634 DOID:582 DOID:576 proteinuria MONDO:0003658 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma MONDO:0005062 DOID:5822 DOID:0060058 lymphoma MONDO:0003659 pediatric lymphoma MONDO:0005062 DOID:5823 DOID:0060058 lymphoma MONDO:0003660 adult lymphoma MONDO:0005062 DOID:5825 DOID:0060058 lymphoma MONDO:0003661 breast lymphoma MONDO:0005062 DOID:5826 DOID:0060058 lymphoma MONDO:0003661 breast lymphoma MONDO:0007254 DOID:5826 DOID:1612 breast cancer MONDO:0003663 uterine ligament endometrioid adenocarcinoma MONDO:0002741 DOID:5829 DOID:3700 uterine ligament adenocarcinoma MONDO:0003664 hemolytic anemia MONDO:0004139 DOID:583 DOID:720 normocytic anemia MONDO:0003665 cervical endometrioid adenocarcinoma MONDO:0005153 DOID:5830 DOID:3702 cervical adenocarcinoma MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO:0002746 DOID:5831 DOID:3706 fallopian tube adenocarcinoma MONDO:0003668 extragonadal seminoma MONDO:0003001 DOID:5838 DOID:4440 seminoma MONDO:0003670 posteroinferior myocardial infarction MONDO:0005068 DOID:5843 DOID:5844 myocardial infarction MONDO:0003671 septal myocardial infarction MONDO:0005068 DOID:5846 DOID:5844 myocardial infarction MONDO:0003672 posterior myocardial infarction MONDO:0005068 DOID:5847 DOID:5844 myocardial infarction MONDO:0003673 apical myocardial infarction MONDO:0005068 DOID:5848 DOID:5844 myocardial infarction MONDO:0003674 subendocardial myocardial infarction MONDO:0005068 DOID:5849 DOID:5844 myocardial infarction MONDO:0003675 posterolateral myocardial infarction MONDO:0005068 DOID:5851 DOID:5844 myocardial infarction MONDO:0003676 inferolateral myocardial infarct MONDO:0005068 DOID:5852 DOID:5844 myocardial infarction MONDO:0003677 lateral myocardial infarction MONDO:0005068 DOID:5853 DOID:5844 myocardial infarction MONDO:0003678 silent myocardial infarction MONDO:0005068 DOID:5854 DOID:5844 myocardial infarction MONDO:0003679 anteroseptal myocardial infarction MONDO:0005068 DOID:5855 DOID:5844 myocardial infarction MONDO:0003681 myxoid chondrosarcoma MONDO:0008977 DOID:5861 DOID:3371 chondrosarcoma MONDO:0003682 localized chondrosarcoma MONDO:0008977 DOID:5862 DOID:3371 chondrosarcoma MONDO:0003686 apocrine sweat gland neoplasm MONDO:0002381 DOID:5876 DOID:2664 sweat gland neoplasm MONDO:0003687 endocardium cancer MONDO:0001340 DOID:5877 DOID:117 heart cancer MONDO:0003689 familial hemolytic anemia MONDO:0003664 DOID:589 DOID:583 hemolytic anemia MONDO:0003690 adult anaplastic ependymoma MONDO:0016700 DOID:5890 DOID:5074 anaplastic ependymoma MONDO:0003691 childhood malignant mesenchymoma MONDO:0003633 DOID:5893 DOID:5758 malignant mesenchymoma MONDO:0003692 adult malignant mesenchymoma MONDO:0003633 DOID:5894 DOID:5758 malignant mesenchymoma MONDO:0003693 clear cell cystadenofibroma MONDO:0003464 DOID:5895 DOID:5482 cystadenofibroma MONDO:0003694 ovarian clear cell cystadenofibroma MONDO:0003695 DOID:5896 DOID:5897 ovarian clear cell adenofibroma MONDO:0003695 ovarian clear cell adenofibroma MONDO:0000646 DOID:5897 DOID:0060112 ovarian benign neoplasm MONDO:0003697 non-invasive verrucous carcinoma of the penis MONDO:0003698 DOID:5907 DOID:5908 penis verrucous carcinoma MONDO:0003699 phobic disorder MONDO:0005618 DOID:591 DOID:2030 anxiety disorder MONDO:0003700 brachial plexus neoplasm MONDO:0003100 DOID:5913 DOID:4693 nerve plexus neoplasm MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma MONDO:0005075 DOID:5914 DOID:3969 thyroid gland papillary carcinoma MONDO:0003705 adult brainstem mixed glioma MONDO:0003153 DOID:5921 DOID:4813 adult brainstem glioma MONDO:0003706 adult brainstem astrocytoma MONDO:0003153 DOID:5922 DOID:4813 adult brainstem glioma MONDO:0003708 extrahepatic bile duct small cell adenocarcinoma MONDO:0002665 DOID:5926 DOID:3495 extrahepatic bile duct adenocarcinoma MONDO:0003709 agoraphobia MONDO:0003699 DOID:593 DOID:591 phobic disorder MONDO:0003710 ovarian mixed germ cell neoplasm MONDO:0003408 DOID:5936 DOID:5351 ovarian primitive germ cell tumor MONDO:0003712 angiokeratoma of mibelli MONDO:0003143 DOID:5948 DOID:479 angiokeratoma MONDO:0003714 bladder urachal squamous cell carcinoma MONDO:0003715 DOID:5957 DOID:5958 bladder urachal carcinoma MONDO:0003715 bladder urachal carcinoma MONDO:0004986 DOID:5958 DOID:4007 urinary bladder carcinoma MONDO:0003716 renal pelvis papillary urothelial carcinoma MONDO:0005221 DOID:5973 DOID:5974 renal pelvis urothelial carcinoma MONDO:0003717 renal pelvis papillary tumor MONDO:0003719 DOID:5975 DOID:5977 renal pelvis neoplasm MONDO:0003718 occlusion precerebral artery MONDO:0011057 DOID:5976 DOID:6713 cerebrovascular disorder MONDO:0003720 kidney fibrosarcoma MONDO:0002930 DOID:5982 DOID:4242 kidney sarcoma MONDO:0003721 kidney osteogenic sarcoma MONDO:0002930 DOID:5983 DOID:4242 kidney sarcoma MONDO:0003724 non-proliferative fibrocystic change of the breast MONDO:0005219 DOID:5997 DOID:10354 breast fibrocystic disease MONDO:0003725 breast adenosis MONDO:0002657 DOID:5998 DOID:3463 breast disorder MONDO:0003726 apocrine adenosis of breast MONDO:0003724 DOID:5999 DOID:5997 non-proliferative fibrocystic change of the breast MONDO:0003727 animal phobia MONDO:0012000 DOID:600 DOID:599 specific phobia MONDO:0003728 breast fibrosarcoma MONDO:0002490 DOID:6001 DOID:3017 breast sarcoma MONDO:0003729 aleukemic leukemia cutis MONDO:0003730 DOID:6003 DOID:6004 aleukemic leukemia MONDO:0003730 aleukemic leukemia MONDO:0005059 DOID:12965 DOID:1240 leukemia MONDO:0003730 aleukemic leukemia MONDO:0005059 DOID:6004 DOID:1240 leukemia MONDO:0003731 adult central nervous system teratoma MONDO:0002718 DOID:6015 DOID:3640 central nervous system teratoma MONDO:0003732 adult central nervous system mature teratoma MONDO:0003731 DOID:6016 DOID:6015 adult central nervous system teratoma MONDO:0003732 adult central nervous system mature teratoma MONDO:0003733 DOID:6016 DOID:6017 central nervous system mature teratoma MONDO:0003733 central nervous system mature teratoma MONDO:0002718 DOID:6017 DOID:3640 central nervous system teratoma MONDO:0003734 adult central nervous system immature teratoma MONDO:0003731 DOID:6018 DOID:6015 adult central nervous system teratoma MONDO:0003734 adult central nervous system immature teratoma MONDO:0003735 DOID:6018 DOID:6019 central nervous system immature teratoma MONDO:0003735 central nervous system immature teratoma MONDO:0002718 DOID:6019 DOID:3640 central nervous system teratoma MONDO:0003736 cancerophobia MONDO:0000600 DOID:602 DOID:0060048 nosophobia MONDO:0003738 selective IgE deficiency disease MONDO:0001342 DOID:6024 DOID:11702 dysgammaglobulinemia MONDO:0003739 selective immunoglobulin deficiency disease MONDO:0002211 DOID:6025 DOID:2115 B cell deficiency MONDO:0003740 AIDS phobia MONDO:0000600 DOID:603 DOID:0060048 nosophobia MONDO:0003741 juvenile type testicular granulosa cell tumor MONDO:0003395 DOID:6032 DOID:5331 testicular granulosa cell tumor MONDO:0003742 heart fibrosarcoma MONDO:0003354 DOID:6033 DOID:5262 heart sarcoma MONDO:0003745 choroid spindle cell melanoma MONDO:0003878 DOID:6041 DOID:6438 malignant choroid melanoma MONDO:0003747 telangiectatic glomangioma MONDO:0002298 DOID:6048 DOID:2435 cutaneous glomangioma MONDO:0003748 flying phobia MONDO:0012000 DOID:605 DOID:599 specific phobia MONDO:0003749 esophageal disorder MONDO:0004335 DOID:6050 DOID:77 digestive system disorder MONDO:0003750 childhood central nervous system germ cell tumor MONDO:0003000 DOID:6052 DOID:4439 central nervous system germ cell tumor MONDO:0003751 childhood germ cell tumor MONDO:0005040 DOID:6053 DOID:2994 germ cell tumor MONDO:0003754 Brown-Sequard syndrome MONDO:0003757 DOID:606 DOID:607 paraplegia MONDO:0003756 ovarian mucinous neoplasm MONDO:0002229 DOID:6067 DOID:2152 ovarian epithelial tumor MONDO:0003758 childhood testicular germ cell tumor MONDO:0010108 DOID:6082 DOID:5557 testicular germ cell tumor MONDO:0003759 childhood ovarian yolk sac tumor MONDO:0006344 DOID:6083 DOID:5350 ovarian yolk sac tumor MONDO:0003760 pediatric ovarian germ cell tumor MONDO:0011366 DOID:6084 DOID:2156 ovarian germ cell tumor MONDO:0003761 leptomeningeal melanoma MONDO:0003762 DOID:6085 DOID:6086 malignant leptomeningeal tumor MONDO:0003762 malignant leptomeningeal tumor MONDO:0016642 DOID:6086 DOID:3565 meningioma MONDO:0003763 acute stress disorder MONDO:0005618 DOID:6088 DOID:2030 anxiety disorder MONDO:0003764 pediatric leptomeningeal melanoma MONDO:0003761 DOID:6089 DOID:6085 leptomeningeal melanoma MONDO:0003765 adult leptomeningeal melanoma MONDO:0003761 DOID:6090 DOID:6085 leptomeningeal melanoma MONDO:0003766 thalamic cancer MONDO:0002786 DOID:6098 DOID:3843 diencephalic cancer MONDO:0003767 mitral valve disorder MONDO:0002869 DOID:61 DOID:4079 heart valve disorder MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma MONDO:0002742 DOID:6101 DOID:3701 cervical mucinous adenocarcinoma MONDO:0003769 herpetic gastritis MONDO:0002270 DOID:6102 DOID:2327 viral gastritis MONDO:0003770 thoracic spinal canal and spinal cord meningioma MONDO:0001279 DOID:6103 DOID:1140 intraspinal meningioma MONDO:0003771 jugular foramen meningioma MONDO:0016642 DOID:6110 DOID:3565 meningioma MONDO:0003772 cerebral meningioma MONDO:0002731 DOID:6112 DOID:368 cerebral hemisphere cancer MONDO:0003772 cerebral meningioma MONDO:0850302 DOID:6112 DOID:0060106 intracranial meningioma MONDO:0003773 intracerebral cystic meningioma MONDO:0003772 DOID:6113 DOID:6112 cerebral meningioma MONDO:0003774 cerebral convexity meningioma MONDO:0003772 DOID:6114 DOID:6112 cerebral meningioma MONDO:0003775 lateral ventricle meningioma MONDO:0002772 DOID:6115 DOID:3772 intraventricular meningioma MONDO:0003775 lateral ventricle meningioma MONDO:0003772 DOID:6115 DOID:6112 cerebral meningioma MONDO:0003776 renal pelvis inverted papilloma MONDO:0003777 DOID:6118 DOID:6119 renal pelvis urothelial papilloma MONDO:0003777 renal pelvis urothelial papilloma MONDO:0003717 DOID:6119 DOID:5975 renal pelvis papillary tumor MONDO:0003781 bronchitis MONDO:0001358 DOID:6132 DOID:1176 bronchial disorder MONDO:0003782 uterine corpus epithelioid leiomyosarcoma MONDO:0016262 DOID:6139 DOID:5289 leiomyosarcoma of the corpus uteri MONDO:0003783 lymphopenia MONDO:0003785 DOID:614 DOID:615 leukopenia MONDO:0003784 nasal cavity carcinoma in situ MONDO:0004647 DOID:6148 DOID:8719 in situ carcinoma MONDO:0003785 leukopenia MONDO:0004805 DOID:615 DOID:9500 leukocyte disorder MONDO:0003786 childhood testicular choriocarcinoma MONDO:0003508 DOID:6160 DOID:5551 choriocarcinoma of testis MONDO:0003787 childhood testicular mixed germ cell cancer MONDO:0003120 DOID:6161 DOID:4743 mixed testicular germ cell cancer MONDO:0003788 childhood embryonal testis carcinoma MONDO:0006446 DOID:6162 DOID:5680 testicular embryonal carcinoma MONDO:0003789 hereditary papillary renal cell carcinoma MONDO:0003008 DOID:6163 DOID:4455 hereditary renal cell carcinoma MONDO:0003790 prostatic urethra urothelial carcinoma MONDO:0003791 DOID:6166 DOID:6167 prostatic urethral cancer MONDO:0003791 prostatic urethral cancer MONDO:0004197 DOID:6167 DOID:736 male urethral cancer MONDO:0003795 ovarian small cell carcinoma MONDO:0005140 DOID:6179 DOID:4001 ovarian carcinoma MONDO:0003796 rectum Kaposi sarcoma MONDO:0002168 DOID:6190 DOID:1995 rectum sarcoma MONDO:0003799 conjunctivitis MONDO:0006170 DOID:6195 DOID:4251 conjunctival disorder MONDO:0003802 cornea cancer MONDO:0002236 DOID:6199 DOID:2174 ocular cancer MONDO:0003803 aortic valve disorder MONDO:0002869 DOID:62 DOID:4079 heart valve disorder MONDO:0003803 aortic valve disorder MONDO:0005561 DOID:62 DOID:520 aortic disorder MONDO:0003805 malignant pericardial mesothelioma MONDO:0001322 DOID:6201 DOID:116 pericardium cancer MONDO:0003805 malignant pericardial mesothelioma MONDO:0006292 DOID:6201 DOID:1790 malignant mesothelioma MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002852 DOID:6208 DOID:4050 mediastinum sarcoma MONDO:0003810 bladder diffuse clear cell adenocarcinoma MONDO:0003386 DOID:6210 DOID:5306 bladder clear cell adenocarcinoma MONDO:0003812 ovarian endometrial cancer MONDO:0002480 DOID:6212 DOID:3001 endometrioid tumor MONDO:0003813 ovarian papillary tumor MONDO:0002229 DOID:6214 DOID:2152 ovarian epithelial tumor MONDO:0003818 childhood mature teratoma of the ovary MONDO:0003820 DOID:6229 DOID:6231 mature ovarian teratoma MONDO:0003819 childhood teratoma of the ovary MONDO:0005602 DOID:6230 DOID:5567 ovarian teratoma MONDO:0003820 mature ovarian teratoma MONDO:0003821 DOID:6231 DOID:6232 ovarian biphasic or triphasic teratoma MONDO:0003821 ovarian biphasic or triphasic teratoma MONDO:0005602 DOID:6232 DOID:5567 ovarian teratoma MONDO:0003822 non-invasive bladder papillary urothelial neoplasm MONDO:0003442 DOID:6239 DOID:5432 bladder papillary urothelial neoplasm MONDO:0003824 hereditary kidney oncocytoma MONDO:0003825 DOID:6244 DOID:6245 kidney oncocytoma MONDO:0003825 kidney oncocytoma MONDO:0002513 DOID:6245 DOID:3116 kidney benign neoplasm MONDO:0003829 chromophil adenoma of the kidney MONDO:0002395 DOID:6257 DOID:2697 renal adenoma MONDO:0003830 type 1 papillary adenoma of the kidney MONDO:0003829 DOID:6258 DOID:6257 chromophil adenoma of the kidney MONDO:0003831 type 2 papillary adenoma of the kidney MONDO:0003829 DOID:6259 DOID:6257 chromophil adenoma of the kidney MONDO:0003832 complement deficiency MONDO:0003778 DOID:626 DOID:612 inborn error of immunity MONDO:0003834 gastric cardia carcinoma MONDO:0001063 DOID:6270 DOID:10548 cardia cancer MONDO:0003834 gastric cardia carcinoma MONDO:0004950 DOID:6270 DOID:5517 gastric carcinoma MONDO:0003835 gastric cardia adenocarcinoma MONDO:0005036 DOID:6271 DOID:3717 gastric adenocarcinoma MONDO:0003837 TSH producing pituitary tumor MONDO:0003429 DOID:6275 DOID:5395 functioning pituitary gland adenoma MONDO:0003840 epicardium lipoma MONDO:0003841 DOID:6284 DOID:6285 heart lipoma MONDO:0003841 heart lipoma MONDO:0005106 DOID:6285 DOID:3315 lipoma MONDO:0003842 childhood cerebellar astrocytic neoplasm MONDO:0003165 DOID:6286 DOID:4848 cerebellar astrocytoma MONDO:0003843 cerebral hemisphere lipoma MONDO:0003844 DOID:6291 DOID:6293 central nervous system lipoma MONDO:0003844 central nervous system lipoma MONDO:0000628 DOID:6293 DOID:0060090 central nervous system organ benign neoplasm MONDO:0003844 central nervous system lipoma MONDO:0005106 DOID:6293 DOID:3315 lipoma MONDO:0003845 corpus callosum lipoma MONDO:0003843 DOID:6294 DOID:6291 cerebral hemisphere lipoma MONDO:0003846 viral esophagitis MONDO:0001409 DOID:6297 DOID:11963 esophagitis MONDO:0003846 viral esophagitis MONDO:0005108 DOID:6297 DOID:934 viral infectious disease MONDO:0003848 ectopic thymus MONDO:0003393 DOID:6307 DOID:533 thymus gland disorder MONDO:0003849 clivus chordoma MONDO:0002892 DOID:6312 DOID:4151 skull base chordoma MONDO:0003850 clivus chondroid chordoma MONDO:0003849 DOID:6313 DOID:6312 clivus chordoma MONDO:0003851 ovarian fetiform teratoma MONDO:0003820 DOID:6314 DOID:6231 mature ovarian teratoma MONDO:0003852 ovarian solid teratoma MONDO:0003820 DOID:6315 DOID:6231 mature ovarian teratoma MONDO:0003853 Bartholin gland adenocarcinoma MONDO:0002829 DOID:6316 DOID:3999 bartholin gland carcinoma MONDO:0003859 bilateral meningioma of optic nerve MONDO:0002640 DOID:6335 DOID:3419 optic nerve neoplasm MONDO:0003860 cerebellopontine angle meningioma MONDO:0002553 DOID:6337 DOID:3200 cerebellopontine angle tumor MONDO:0003860 cerebellopontine angle meningioma MONDO:0850302 DOID:6337 DOID:0060106 intracranial meningioma MONDO:0003861 vulvar eccrine adenocarcinoma MONDO:0024336 DOID:6339 DOID:2098 vulvar adenocarcinoma MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor MONDO:0003863 DOID:6344 DOID:6345 malignant melanocytic neoplasm of the peripheral nerve sheath MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath MONDO:0017827 DOID:6345 DOID:5940 malignant peripheral nerve sheath tumor MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004948 DOID:6354 DOID:1040 B-cell chronic lymphocytic leukemia MONDO:0003865 acral lentiginous melanoma MONDO:0005012 DOID:6367 DOID:8923 cutaneous melanoma MONDO:0003867 diffuse meningeal melanocytosis MONDO:0003222 DOID:6379 DOID:4955 central nervous system melanocytic neoplasm MONDO:0003868 anterior foramen magnum meningioma MONDO:0003109 DOID:6381 DOID:4708 foramen magnum meningioma MONDO:0003869 childhood brain stem glioma MONDO:0002914 DOID:6383 DOID:4206 childhood brain stem neoplasm MONDO:0003870 childhood brainstem astrocytoma MONDO:0003869 DOID:6386 DOID:6383 childhood brain stem glioma MONDO:0003872 ovarian papillary cystadenoma MONDO:0003813 DOID:6405 DOID:6214 ovarian papillary tumor MONDO:0003873 ovarian surface papilloma MONDO:0003813 DOID:6407 DOID:6214 ovarian papillary tumor MONDO:0003875 childhood central nervous system mature teratoma MONDO:0003733 DOID:6423 DOID:6017 central nervous system mature teratoma MONDO:0003876 eyelid carcinoma MONDO:0002656 DOID:6425 DOID:3451 skin carcinoma MONDO:0003878 malignant choroid melanoma MONDO:0006700 DOID:6438 DOID:12759 choroid cancer MONDO:0003880 ceruminous carcinoma MONDO:0003214 DOID:6446 DOID:4933 apocrine adenocarcinoma MONDO:0003881 vulvar apocrine adenocarcinoma MONDO:0024336 DOID:6448 DOID:2098 vulvar adenocarcinoma MONDO:0003882 central nervous system fibrosarcoma MONDO:0002217 DOID:6451 DOID:2133 central nervous system sarcoma MONDO:0003882 central nervous system fibrosarcoma MONDO:0005164 DOID:6451 DOID:3355 fibrosarcoma MONDO:0003885 colorectal lipoma MONDO:0005106 DOID:6460 DOID:3315 lipoma MONDO:0003886 mucinous cystadenofibroma MONDO:0003464 DOID:6468 DOID:5482 cystadenofibroma MONDO:0003887 ovarian mucinous adenofibroma MONDO:0000646 DOID:6469 DOID:0060112 ovarian benign neoplasm MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma MONDO:0003787 DOID:6474 DOID:6161 childhood testicular mixed germ cell cancer MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant MONDO:0003890 DOID:6476 DOID:6477 infiltrating bladder urothelial carcinoma MONDO:0003890 infiltrating bladder urothelial carcinoma MONDO:0005611 DOID:6477 DOID:4006 bladder transitional cell carcinoma MONDO:0003891 bladder signet ring cell adenocarcinoma MONDO:0002751 DOID:6481 DOID:3711 bladder adenocarcinoma MONDO:0003892 acinar lung adenocarcinoma MONDO:0005061 DOID:6482 DOID:3910 lung adenocarcinoma MONDO:0003893 rete testis adenoma MONDO:0004972 DOID:6483 DOID:657 adenoma MONDO:0003894 mediastinal melanocytic neurilemmoma MONDO:0002558 DOID:6484 DOID:3205 melanotic neurilemmoma MONDO:0003895 periosteal osteogenic sarcoma MONDO:0002628 DOID:6489 DOID:3374 peripheral osteosarcoma MONDO:0003896 breast capillary hemangioma MONDO:0003126 DOID:6491 DOID:476 breast hemangioma MONDO:0003897 breast epithelioid hemangioma MONDO:0003126 DOID:6492 DOID:476 breast hemangioma MONDO:0003898 pediatric myxoid chondrosarcoma MONDO:0003681 DOID:6494 DOID:5861 myxoid chondrosarcoma MONDO:0003903 benign vaginal mixed tumor MONDO:0001731 DOID:6505 DOID:135 benign vaginal mixed epithelial and mesenchymal neoplasm MONDO:0003904 lung occult squamous cell carcinoma MONDO:0005097 DOID:6510 DOID:3907 squamous cell lung carcinoma MONDO:0003905 ovarian yolk sac tumor, glandular pattern MONDO:0006344 DOID:6511 DOID:5350 ovarian yolk sac tumor MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern MONDO:0006344 DOID:6512 DOID:5350 ovarian yolk sac tumor MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern MONDO:0006344 DOID:6514 DOID:5350 ovarian yolk sac tumor MONDO:0003908 clivus meningioma MONDO:0002919 DOID:6517 DOID:4211 posterior cranial fossa meningioma MONDO:0003908 clivus meningioma MONDO:0002998 DOID:6517 DOID:4437 skull base meningioma MONDO:0003909 Bartholin gland adenomyoma MONDO:0002193 DOID:6518 DOID:2068 Bartholin gland benign neoplasm MONDO:0003910 mixed cell uveal melanoma MONDO:0006486 DOID:6522 DOID:6039 uveal melanoma MONDO:0003911 ciliary body mixed cell melanoma MONDO:0003910 DOID:6523 DOID:6522 mixed cell uveal melanoma MONDO:0003912 malignant ciliary body melanoma MONDO:0002969 DOID:6524 DOID:4352 ciliary body cancer MONDO:0003913 choroid mixed cell melanoma MONDO:0003878 DOID:6525 DOID:6438 malignant choroid melanoma MONDO:0003915 cortical thymoma MONDO:0016974 DOID:6530 DOID:3282 thymoma type B MONDO:0003916 overnutrition MONDO:0005137 DOID:654 DOID:374 nutritional disorder MONDO:0003917 heart lymphoma MONDO:0001340 DOID:6547 DOID:117 heart cancer MONDO:0003917 heart lymphoma MONDO:0005062 DOID:6547 DOID:0060058 lymphoma MONDO:0003918 angiomatous meningioma MONDO:0016642 DOID:6548 DOID:3565 meningioma MONDO:0003921 posterior foramen magnum meningioma MONDO:0003109 DOID:6553 DOID:4708 foramen magnum meningioma MONDO:0003924 adrenal cortex adenoma MONDO:0004972 DOID:656 DOID:657 adenoma MONDO:0003926 neurilemmoma of the pleura MONDO:0004820 DOID:6564 DOID:956 peripheral nerve schwannoma MONDO:0003927 posterior uveal melanoma MONDO:0006486 DOID:6566 DOID:6039 uveal melanoma MONDO:0003928 uterine corpus myxoid leiomyosarcoma MONDO:0016262 DOID:6567 DOID:5289 leiomyosarcoma of the corpus uteri MONDO:0003929 vestibular micropapillomatosis MONDO:0002194 DOID:6569 DOID:2071 vestibular papilloma MONDO:0003930 non-invasive bladder urothelial carcinoma MONDO:0005611 DOID:6571 DOID:4006 bladder transitional cell carcinoma MONDO:0003932 childhood optic nerve glioma MONDO:0003235 DOID:6576 DOID:4992 optic nerve glioma MONDO:0003933 chest wall bone cancer MONDO:0002129 DOID:6579 DOID:184 bone cancer MONDO:0003935 oncocytic breast carcinoma MONDO:0004988 DOID:6585 DOID:3458 breast adenocarcinoma MONDO:0003938 bladder colonic type adenocarcinoma MONDO:0002751 DOID:6594 DOID:3711 bladder adenocarcinoma MONDO:0003939 muscle tissue disorder MONDO:0002081 DOID:0080000 DOID:17 musculoskeletal system disorder MONDO:0003940 Kummell disease MONDO:0005095 DOID:6603 DOID:1123 spondyloarthropathy MONDO:0003941 classic variant of chromophobe renal cell carcinoma MONDO:0017885 DOID:6605 DOID:4471 chromophobe renal cell carcinoma MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma MONDO:0017885 DOID:6606 DOID:4471 chromophobe renal cell carcinoma MONDO:0003943 central nervous system hibernoma MONDO:0003844 DOID:6607 DOID:6293 central nervous system lipoma MONDO:0003944 endobronchial leiomyoma MONDO:0003293 DOID:6608 DOID:5136 lung leiomyoma MONDO:0003946 vaginal villous adenoma MONDO:0003434 DOID:6613 DOID:5402 vaginal adenoma MONDO:0003947 hyper-IgM syndrome MONDO:0002468 DOID:0080544 DOID:2959 hyperimmunoglobulin syndrome MONDO:0003948 cerebral hemangioma MONDO:0003428 DOID:6621 DOID:5393 brain hemangioma MONDO:0003950 nipple carcinoma MONDO:0004989 DOID:6629 DOID:3459 breast carcinoma MONDO:0003957 adult pineoblastoma MONDO:0003248 DOID:6648 DOID:5031 adult pineal parenchymal tumor MONDO:0003958 childhood central nervous system immature teratoma MONDO:0003735 DOID:6654 DOID:6019 central nervous system immature teratoma MONDO:0003960 pulmonary large cell neuroendocrine carcinoma MONDO:0003050 DOID:6658 DOID:4556 lung large cell carcinoma MONDO:0003962 Froelich syndrome MONDO:0002150 DOID:6676 DOID:1931 hypothalamic disorder MONDO:0003963 diffuse infiltrative lymphocytosis syndrome MONDO:0002254 DOID:6677 DOID:225 syndromic disease MONDO:0003964 myositis ossificans MONDO:0021167 DOID:668 DOID:633 myositis disease MONDO:0003965 Capgras syndrome MONDO:0004359 DOID:6680 DOID:778 delusional disorder MONDO:0003966 testicular monophasic choriocarcinoma MONDO:0003508 DOID:6693 DOID:5551 choriocarcinoma of testis MONDO:0003967 synchronous multifocal osteogenic sarcoma MONDO:0002622 DOID:6696 DOID:3360 multifocal osteogenic sarcoma MONDO:0003968 asynchronous multifocal osteogenic sarcoma MONDO:0002622 DOID:6697 DOID:3360 multifocal osteogenic sarcoma MONDO:0003969 amphetamine abuse MONDO:0002491 DOID:670 DOID:302 substance abuse MONDO:0003970 gastric fundus carcinoma MONDO:0004950 DOID:6700 DOID:10538 gastric carcinoma MONDO:0003971 gastric pylorus carcinoma MONDO:0004950 DOID:6703 DOID:5517 gastric carcinoma MONDO:0003972 gastric body carcinoma MONDO:0004950 DOID:6705 DOID:5517 gastric carcinoma MONDO:0003973 tubular variant testicular seminoma MONDO:0003669 DOID:6706 DOID:5842 testicular seminoma MONDO:0003976 malignant type AB thymoma MONDO:0016975 DOID:6723 DOID:3280 thymoma type AB MONDO:0003979 intrahepatic bile duct cystadenoma MONDO:0003420 DOID:6733 DOID:5384 bile duct cystadenoma MONDO:0003980 schwannoma of jugular foramen MONDO:0004820 DOID:6735 DOID:956 peripheral nerve schwannoma MONDO:0003982 bilateral breast carcinoma MONDO:0004989 DOID:6741 DOID:3459 breast carcinoma MONDO:0003983 synchronous bilateral breast carcinoma MONDO:0003982 DOID:6742 DOID:6741 bilateral breast carcinoma MONDO:0003984 internal auditory canal lipoma MONDO:0005106 DOID:6752 DOID:3315 lipoma MONDO:0003985 chest wall lymphoma MONDO:0005062 DOID:6758 DOID:0060058 lymphoma MONDO:0003987 lung lymphoma MONDO:0005062 DOID:6760 DOID:0060058 lymphoma MONDO:0003987 lung lymphoma MONDO:0008903 DOID:6760 DOID:1324 lung cancer MONDO:0003988 sternum lymphoma MONDO:0003273 DOID:6762 DOID:5090 sternum cancer MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma MONDO:0005461 DOID:6777 DOID:2870 endometrium adenocarcinoma MONDO:0003992 childhood botryoid rhabdomyosarcoma MONDO:0002578 DOID:6786 DOID:3255 botryoid rhabdomyosarcoma MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma MONDO:0003994 DOID:6787 DOID:6788 botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0002578 DOID:6788 DOID:3255 botryoid rhabdomyosarcoma MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma MONDO:0005214 DOID:6789 DOID:2096 vulva sarcoma MONDO:0003996 basal ganglia disorder MONDO:0005560 DOID:679 DOID:936 brain disorder MONDO:0003997 colon Kaposi sarcoma MONDO:0003352 DOID:6804 DOID:5260 colon sarcoma MONDO:0004000 childhood pilocytic astrocytoma MONDO:0016691 DOID:6812 DOID:4851 pilocytic astrocytoma MONDO:0004005 rete ovarii adenoma MONDO:0003192 DOID:6837 DOID:4895 rete ovarii neoplasm MONDO:0004006 rete ovarii cystadenofibroma MONDO:0003192 DOID:6838 DOID:4895 rete ovarii neoplasm MONDO:0004007 breast intraductal proliferative lesion MONDO:0002488 DOID:6839 DOID:3013 intraductal breast neoplasm MONDO:0004008 flat ductal epithelial atypia MONDO:0004007 DOID:6841 DOID:6839 breast intraductal proliferative lesion MONDO:0004012 adult botryoid rhabdomyosarcoma MONDO:0002578 DOID:6847 DOID:3255 botryoid rhabdomyosarcoma MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma MONDO:0003994 DOID:6848 DOID:6788 botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0004014 ethmoid sinus ectopic meningioma MONDO:0001764 DOID:6854 DOID:1364 ethmoidal sinus neoplasm MONDO:0004016 pineal region mature teratoma MONDO:0004015 DOID:6857 DOID:6856 pineal region teratoma MONDO:0004017 pineal region immature teratoma MONDO:0004015 DOID:6858 DOID:6856 pineal region teratoma MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma MONDO:0005461 DOID:6865 DOID:2870 endometrium adenocarcinoma MONDO:0004020 mediastinal gray zone lymphoma MONDO:0003658 DOID:6867 DOID:5822 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma MONDO:0004020 mediastinal gray zone lymphoma MONDO:0004021 DOID:6867 DOID:6868 mediastinal malignant lymphoma MONDO:0004021 mediastinal malignant lymphoma MONDO:0005062 DOID:6868 DOID:0060058 lymphoma MONDO:0004021 mediastinal malignant lymphoma MONDO:0005843 DOID:6868 DOID:5559 mediastinal cancer MONDO:0004026 skin tag MONDO:0006603 DOID:6873 DOID:2053 reactive cutaneous fibrous lesion MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 DOID:6880 DOID:5272 small intestinal sarcoma MONDO:0004028 small intestinal fibrosarcoma MONDO:0005164 DOID:6880 DOID:3355 fibrosarcoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 DOID:6888 DOID:4939 ureter carcinoma MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 DOID:6898 DOID:4001 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 DOID:6903 DOID:2174 ocular cancer MONDO:0004034 eye lymphoma MONDO:0005062 DOID:6903 DOID:0060058 lymphoma MONDO:0004035 glomangiomatosis MONDO:0003342 DOID:6906 DOID:5238 benign perivascular tumor MONDO:0004037 retinal edema MONDO:0005283 DOID:6929 DOID:5679 retinal disorder MONDO:0004038 dental enamel hypoplasia MONDO:0002220 DOID:693 DOID:214 tooth hard tissue disease MONDO:0004039 papillary extrahepatic bile duct adenocarcinoma MONDO:0002665 DOID:6931 DOID:3495 extrahepatic bile duct adenocarcinoma MONDO:0004042 urethra inverted papilloma MONDO:0002221 DOID:6934 DOID:2140 urethral urothelial papilloma MONDO:0004043 ureter inverted papilloma MONDO:0004044 DOID:6935 DOID:6936 ureter urothelial papilloma MONDO:0004044 ureter urothelial papilloma MONDO:0001398 DOID:6936 DOID:11885 ureter benign neoplasm MONDO:0004045 pediatric intraocular retinoblastoma MONDO:0003077 DOID:6938 DOID:4653 intraocular retinoblastoma MONDO:0004046 childhood brain meningioma MONDO:0850302 DOID:6939 DOID:0060106 intracranial meningioma MONDO:0004047 sphenoidal sinus neoplasm MONDO:0005289 DOID:6947 DOID:1350 paranasal sinus neoplasm MONDO:0004048 immature gastric teratoma MONDO:0003112 DOID:6948 DOID:4716 malignant gastric germ cell tumor MONDO:0004049 combat disorder MONDO:0003763 DOID:6950 DOID:6088 acute stress disorder MONDO:0004051 aleukemic monocytic leukemia cutis MONDO:0003729 DOID:6958 DOID:6003 aleukemic leukemia cutis MONDO:0004052 rectal cloacogenic carcinoma MONDO:0018515 DOID:6959 DOID:5528 squamous cell carcinoma of rectum MONDO:0004053 bartholin gland squamous cell carcinoma MONDO:0002829 DOID:6961 DOID:3999 bartholin gland carcinoma MONDO:0004054 acute canaliculitis MONDO:0004055 DOID:6969 DOID:6970 acute inflammation of lacrimal passage MONDO:0004055 acute inflammation of lacrimal passage MONDO:0001854 DOID:6970 DOID:1400 lacrimal apparatus disorder MONDO:0004056 bladder papillary urothelial carcinoma MONDO:0005611 DOID:6975 DOID:4006 bladder transitional cell carcinoma MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma MONDO:0003890 DOID:6976 DOID:6477 infiltrating bladder urothelial carcinoma MONDO:0004058 pancreatic cholera MONDO:0001933 DOID:6977 DOID:1428 endocrine pancreas disorder MONDO:0004059 dentin sensitivity MONDO:0002220 DOID:698 DOID:214 tooth hard tissue disease MONDO:0004060 peripheral epithelioid sarcoma MONDO:0017387 DOID:6988 DOID:6193 epithelioid sarcoma MONDO:0004063 intermediate cell type iris melanoma MONDO:0004062 DOID:6993 DOID:6992 intermediate cell type uveal melanoma MONDO:0004063 intermediate cell type iris melanoma MONDO:0004064 DOID:6993 DOID:6994 iris melanoma MONDO:0004064 iris melanoma MONDO:0002658 DOID:6994 DOID:3478 iris cancer MONDO:0004065 intermediate cell type choroid melanoma MONDO:0003878 DOID:6996 DOID:6438 malignant choroid melanoma MONDO:0004065 intermediate cell type choroid melanoma MONDO:0004062 DOID:6996 DOID:6992 intermediate cell type uveal melanoma MONDO:0004066 intermediate cell type ciliary body melanoma MONDO:0003912 DOID:6997 DOID:6524 malignant ciliary body melanoma MONDO:0004071 childhood cerebral astrocytoma MONDO:0002731 DOID:7007 DOID:368 cerebral hemisphere cancer MONDO:0004074 ovarian mucinous cystadenofibroma MONDO:0003887 DOID:7013 DOID:6469 ovarian mucinous adenofibroma MONDO:0004075 infiltrating lipoma MONDO:0005106 DOID:7014 DOID:3315 lipoma MONDO:0004076 tendon sheath lipoma MONDO:0005106 DOID:7016 DOID:3315 lipoma MONDO:0004077 lumbosacral lipoma MONDO:0005106 DOID:7017 DOID:3315 lipoma MONDO:0004078 mucinous intrahepatic cholangiocarcinoma MONDO:0003210 DOID:7024 DOID:4928 intrahepatic cholangiocarcinoma MONDO:0004079 lung mucous gland adenoma MONDO:0003427 DOID:7030 DOID:5391 bronchus adenoma MONDO:0004080 glottis squamous cell carcinoma MONDO:0002355 DOID:7031 DOID:2599 glottis carcinoma MONDO:0004082 childhood immature teratoma of ovary MONDO:0018369 DOID:7037 DOID:6331 immature ovarian teratoma MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma MONDO:0002656 DOID:7039 DOID:3451 skin carcinoma MONDO:0004085 choroid epithelioid cell melanoma MONDO:0003878 DOID:7041 DOID:6438 malignant choroid melanoma MONDO:0004086 ciliary body epithelioid cell melanoma MONDO:0006200 DOID:7042 DOID:7040 epithelioid cell uveal melanoma MONDO:0004088 cervical basaloid carcinoma MONDO:0006143 DOID:7046 DOID:3744 cervical squamous cell carcinoma MONDO:0004090 vulvar basaloid squamous cell carcinoma MONDO:0024609 DOID:7048 DOID:2101 vulvar squamous cell carcinoma MONDO:0004094 multiple skull base meningioma MONDO:0002998 DOID:7054 DOID:4437 skull base meningioma MONDO:0004096 spinal cord dermoid cyst MONDO:0002378 DOID:7071 DOID:2658 dermoid cyst MONDO:0004099 adult cystic teratoma MONDO:0002379 DOID:7079 DOID:2660 cystic teratoma MONDO:0004100 lung mixed small cell and squamous cell carcinoma MONDO:0005454 DOID:7081 DOID:5410 lung neuroendocrine neoplasm MONDO:0004101 multicentric papillary thyroid carcinoma MONDO:0005075 DOID:7086 DOID:3969 thyroid gland papillary carcinoma MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma MONDO:0005075 DOID:7088 DOID:3969 thyroid gland papillary carcinoma MONDO:0004103 tall cell variant thyroid gland papillary carcinoma MONDO:0005075 DOID:7089 DOID:3969 thyroid gland papillary carcinoma MONDO:0004104 splenic manifestation of hairy cell leukemia MONDO:0004107 DOID:709 DOID:710 splenic manifestation of leukemia MONDO:0004105 childhood epithelioid sarcoma MONDO:0017387 DOID:7095 DOID:6193 epithelioid sarcoma MONDO:0004106 testicular yolk sac tumor, macrocystic pattern MONDO:0003402 DOID:7097 DOID:5344 testicular yolk sac tumor MONDO:0004107 splenic manifestation of leukemia MONDO:0005966 DOID:710 DOID:672 spleen cancer MONDO:0004108 diaphragma sellae meningioma MONDO:0002720 DOID:7103 DOID:3643 sella turcica neoplasm MONDO:0004108 diaphragma sellae meningioma MONDO:0002998 DOID:7103 DOID:4437 skull base meningioma MONDO:0004109 epiglottis neoplasm MONDO:0004427 DOID:7105 DOID:8002 supraglottis neoplasm MONDO:0004110 refractory hairy cell leukemia MONDO:0004111 DOID:711 DOID:712 refractory hematologic cancer MONDO:0004110 refractory hairy cell leukemia MONDO:0018935 DOID:711 DOID:285 hairy cell leukemia MONDO:0004112 radiation cystitis MONDO:0006032 DOID:7127 DOID:1679 cystitis MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma MONDO:0004986 DOID:7132 DOID:4007 urinary bladder carcinoma MONDO:0004116 esophageal small cell neuroendocrine carcinoma MONDO:0019086 DOID:7134 DOID:1107 carcinoma of esophagus MONDO:0004117 ampulla of vater small cell neuroendocrine carcinoma MONDO:0017590 DOID:7136 DOID:4932 carcinoma of the ampulla of vater MONDO:0004118 cystitis cystica MONDO:0006032 DOID:7138 DOID:1679 cystitis MONDO:0004120 Bartholin gland small cell carcinoma MONDO:0002829 DOID:7140 DOID:3999 bartholin gland carcinoma MONDO:0004124 prostate stromal sarcoma MONDO:0002854 DOID:7152 DOID:4054 prostate sarcoma MONDO:0004126 thyroiditis MONDO:0003240 DOID:7166 DOID:50 thyroid gland disorder MONDO:0004127 lung occult adenocarcinoma MONDO:0005061 DOID:7168 DOID:3910 lung adenocarcinoma MONDO:0004128 lung occult large cell carcinoma MONDO:0003050 DOID:7169 DOID:4556 lung large cell carcinoma MONDO:0004130 anus basaloid carcinoma MONDO:0006082 DOID:7174 DOID:5525 anal squamous cell carcinoma MONDO:0004131 anal verrucous carcinoma MONDO:0006082 DOID:7175 DOID:5525 anal squamous cell carcinoma MONDO:0004133 pituitary gland mixed eosinophil-basophil adenoma MONDO:0006373 DOID:7179 DOID:3829 pituitary gland adenoma MONDO:0004134 benign dermal neurilemmoma MONDO:0002531 DOID:7181 DOID:3165 skin neoplasm MONDO:0004136 ovarian endometrioid cystadenoma MONDO:0005183 DOID:7191 DOID:3269 ovarian cystadenoma MONDO:0004139 normocytic anemia MONDO:0002280 DOID:720 DOID:2355 anemia MONDO:0004140 intermediate malignant teratoma MONDO:0003514 DOID:7202 DOID:5563 malignant teratoma MONDO:0004141 melanomatosis MONDO:0005105 DOID:7206 DOID:1909 melanoma MONDO:0004142 lung combined large cell neuroendocrine carcinoma MONDO:0003960 DOID:7207 DOID:6658 pulmonary large cell neuroendocrine carcinoma MONDO:0004143 psammomatous meningioma MONDO:0016642 DOID:7210 DOID:3565 meningioma MONDO:0004144 fibrous meningioma MONDO:0016642 DOID:7211 DOID:3565 meningioma MONDO:0004145 meningothelial meningioma MONDO:0016642 DOID:7212 DOID:3565 meningioma MONDO:0004146 transitional meningioma MONDO:0016642 DOID:7213 DOID:3565 meningioma MONDO:0004147 noninvasive malignant thymoma MONDO:0006456 DOID:7214 DOID:3275 thymoma MONDO:0004149 gallbladder pleomorphic giant cell adenocarcinoma MONDO:0006215 DOID:7222 DOID:3500 gallbladder adenocarcinoma MONDO:0004150 breast giant fibroadenoma MONDO:0002056 DOID:7223 DOID:1618 breast fibroadenoma MONDO:0004151 spinal meninges cancer MONDO:0003544 DOID:7224 DOID:5612 spinal cord cancer MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation MONDO:0003864 DOID:7230 DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004153 childhood central nervous system embryonal carcinoma MONDO:0003750 DOID:7231 DOID:6052 childhood central nervous system germ cell tumor MONDO:0004155 adult central nervous system embryonal carcinoma MONDO:0003405 DOID:7233 DOID:5349 adult central nervous system germ cell tumor MONDO:0004156 pancreatic mucinous cystadenocarcinoma MONDO:0002867 DOID:7234 DOID:4073 pancreatic cystadenocarcinoma MONDO:0004158 pancreatic mucinous-cystic neoplasm with an associated invasive carcinoma MONDO:0004156 DOID:7236 DOID:7234 pancreatic mucinous cystadenocarcinoma MONDO:0004159 pancreatic non-invasive mucinous cystadenocarcinoma MONDO:0004156 DOID:7237 DOID:7234 pancreatic mucinous cystadenocarcinoma MONDO:0004160 female stress incontinence MONDO:0006026 DOID:724 DOID:365 urinary bladder disorder MONDO:0004163 bladder urachal urothelial carcinoma MONDO:0003715 DOID:7244 DOID:5958 bladder urachal carcinoma MONDO:0004165 selective IgD deficiency disease MONDO:0003739 DOID:7263 DOID:6025 selective immunoglobulin deficiency disease MONDO:0004166 hereditary fallopian tube carcinoma MONDO:0006206 DOID:7266 DOID:1963 fallopian tube carcinoma MONDO:0004168 cribriform variant testicular seminoma MONDO:0003669 DOID:7269 DOID:5842 testicular seminoma MONDO:0004169 premenstrual tension MONDO:0002263 DOID:727 DOID:229 female reproductive system disorder MONDO:0004170 nodular episcleritis MONDO:0001269 DOID:728 DOID:11343 scleral disorder MONDO:0004172 uterine corpus adenocarcinofibroma MONDO:0002879 DOID:7281 DOID:4114 uterine body mixed cancer MONDO:0004173 adenocarcinoma of skene gland origin MONDO:0001869 DOID:7284 DOID:14059 paraurethral gland cancer MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma MONDO:0005461 DOID:7289 DOID:2870 endometrium adenocarcinoma MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma MONDO:0005461 DOID:7293 DOID:2870 endometrium adenocarcinoma MONDO:0004176 childhood extraosseous osteosarcoma MONDO:0002621 DOID:7297 DOID:3357 extraosseous osteosarcoma MONDO:0004177 benign urethral neoplasm MONDO:0004180 DOID:730 DOID:731 benign urinary system neoplasm MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern MONDO:0003402 DOID:7302 DOID:5344 testicular yolk sac tumor MONDO:0004180 benign urinary system neoplasm MONDO:0005165 DOID:731 DOID:0060085 benign neoplasm MONDO:0004181 breast adenomyoepithelial adenosis MONDO:0003725 DOID:7312 DOID:5998 breast adenosis MONDO:0004182 stage IVb bladder cancer MONDO:0004986 DOID:7315 DOID:4007 urinary bladder carcinoma MONDO:0004183 axonal neuropathy MONDO:0005244 DOID:7319 DOID:870 peripheral neuropathy MONDO:0004184 urethral disorder MONDO:0002118 DOID:732 DOID:18 urinary system disorder MONDO:0004185 ovarian serous cystadenofibroma MONDO:0006340 DOID:7320 DOID:5474 ovarian serous adenofibroma MONDO:0004186 cranial nodular fasciitis MONDO:0004187 DOID:7326 DOID:7327 nodular fasciitis MONDO:0004187 nodular fasciitis MONDO:0004830 DOID:7327 DOID:9598 fasciitis MONDO:0004188 iris spindle cell melanoma MONDO:0004064 DOID:7328 DOID:6994 iris melanoma MONDO:0004189 esophageal tuberculosis MONDO:0003749 DOID:7332 DOID:6050 esophageal disorder MONDO:0004189 esophageal tuberculosis MONDO:0005768 DOID:7332 DOID:404 gastrointestinal tuberculosis MONDO:0004190 nephrogenic adenoma of urinary bladder MONDO:0000384 DOID:7333 DOID:0050623 bladder benign neoplasm MONDO:0004191 nephrogenic adenoma MONDO:0002513 DOID:7334 DOID:3116 kidney benign neoplasm MONDO:0004192 urethra cancer MONDO:0006295 DOID:734 DOID:3996 malignant urinary system neoplasm MONDO:0004193 pediatric ovarian dysgerminoma MONDO:0003760 DOID:7340 DOID:6084 pediatric ovarian germ cell tumor MONDO:0004194 ovarian stromal hyperthecosis MONDO:0005558 DOID:7347 DOID:1100 ovarian disorder MONDO:0004195 thymic dysplasia MONDO:0003393 DOID:7350 DOID:533 thymus gland disorder MONDO:0004197 male urethral cancer MONDO:0004192 DOID:736 DOID:734 urethra cancer MONDO:0004198 testicular yolk sac tumor, solid pattern MONDO:0003402 DOID:7360 DOID:5344 testicular yolk sac tumor MONDO:0004199 vulvar keratinizing squamous cell carcinoma MONDO:0024609 DOID:7363 DOID:2101 vulvar squamous cell carcinoma MONDO:0004200 superficial urinary bladder carcinoma MONDO:0004986 DOID:7371 DOID:4007 urinary bladder carcinoma MONDO:0004201 pituitary hypoplasia MONDO:0003381 DOID:7378 DOID:53 pituitary gland disorder MONDO:0004202 adrenal medulla carcinoma MONDO:0003606 DOID:7379 DOID:5719 adrenal medulla cancer MONDO:0004203 female urethral cancer MONDO:0004192 DOID:738 DOID:734 urethra cancer MONDO:0004204 squamous cell skin papilloma MONDO:0002536 DOID:7380 DOID:3178 skin papilloma MONDO:0004206 pulmonary vein leiomyosarcoma MONDO:0004634 DOID:7388 DOID:866 vein disorder MONDO:0004206 pulmonary vein leiomyosarcoma MONDO:0005058 DOID:7388 DOID:1967 leiomyosarcoma MONDO:0004207 pulmonary artery leiomyosarcoma MONDO:0000473 DOID:7389 DOID:0050828 arterial disorder MONDO:0004207 pulmonary artery leiomyosarcoma MONDO:0005058 DOID:7389 DOID:1967 leiomyosarcoma MONDO:0004208 superior vena cava leiomyosarcoma MONDO:0005058 DOID:7390 DOID:1967 leiomyosarcoma MONDO:0004209 cerebral primitive neuroectodermal tumor MONDO:0002731 DOID:7398 DOID:368 cerebral hemisphere cancer MONDO:0004212 vulvar keratoacanthoma-like carcinoma MONDO:0024609 DOID:7408 DOID:2101 vulvar squamous cell carcinoma MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma MONDO:0024609 DOID:7409 DOID:2101 vulvar squamous cell carcinoma MONDO:0004214 ovarian endometrioid cystadenofibroma MONDO:0003463 DOID:7411 DOID:5480 ovarian endometrioid adenofibroma MONDO:0004215 cutaneous anthrax MONDO:0005119 DOID:7426 DOID:7427 anthrax infection MONDO:0004216 pineal region germinoma MONDO:0002073 DOID:7428 DOID:1660 malignant pineal area germ cell neoplasm MONDO:0004217 childhood brain germinoma MONDO:0002214 DOID:7429 DOID:2127 brain germinoma MONDO:0004218 childhood germ cell brain tumor MONDO:0003750 DOID:7430 DOID:6052 childhood central nervous system germ cell tumor MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor MONDO:0003402 DOID:7435 DOID:5344 testicular yolk sac tumor MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells MONDO:0005461 DOID:7436 DOID:2870 endometrium adenocarcinoma MONDO:0004221 uterine corpus perivascular epithelioid cell tumor MONDO:0006359 DOID:7437 DOID:2643 neoplasm with perivascular epithelioid cell differentiation MONDO:0004222 ovarian clear cell cystadenocarcinoma MONDO:0002702 DOID:7438 DOID:3605 ovarian cystadenocarcinoma MONDO:0004224 chronic metabolic polyneuropathy MONDO:0003335 DOID:7441 DOID:5221 chronic polyneuropathy MONDO:0004229 acantholytic variant squamous cell breast carcinoma MONDO:0006056 DOID:7459 DOID:5514 squamous cell breast carcinoma MONDO:0004231 spindle cell variant squamous cell breast carcinoma MONDO:0006056 DOID:7460 DOID:5514 squamous cell breast carcinoma MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma MONDO:0006056 DOID:7461 DOID:5514 squamous cell breast carcinoma MONDO:0004233 childhood pleomorphic rhabdomyosarcoma MONDO:0017386 DOID:7463 DOID:3250 pleomorphic rhabdomyosarcoma MONDO:0004235 diverticulitis MONDO:0005020 DOID:7475 DOID:5295 intestinal disorder MONDO:0004237 large cell carcinoma with rhabdoid phenotype MONDO:0003050 DOID:7480 DOID:4556 lung large cell carcinoma MONDO:0004238 petrous apex meningioma MONDO:0016642 DOID:7482 DOID:3565 meningioma MONDO:0004239 cervical keratinizing squamous cell carcinoma MONDO:0006143 DOID:7483 DOID:3744 cervical squamous cell carcinoma MONDO:0004241 Osgood-Schlatter disease MONDO:0002614 DOID:7489 DOID:3342 bone inflammation disease MONDO:0004242 active peptic ulcer disease MONDO:0004247 DOID:749 DOID:750 peptic ulcer disease MONDO:0004243 vulvar proximal-type epithelioid sarcoma MONDO:0004244 DOID:7491 DOID:7492 proximal-type epithelioid sarcoma MONDO:0004243 vulvar proximal-type epithelioid sarcoma MONDO:0005214 DOID:7491 DOID:2096 vulva sarcoma MONDO:0004244 proximal-type epithelioid sarcoma MONDO:0017387 DOID:7492 DOID:6193 epithelioid sarcoma MONDO:0004245 ependymal tumor of brain MONDO:0005499 DOID:7497 DOID:0060108 brain glioma MONDO:0004247 peptic ulcer disease MONDO:0004335 DOID:750 DOID:77 digestive system disorder MONDO:0004250 extrahepatic bile duct papillary adenoma MONDO:0003445 DOID:7503 DOID:5438 extrahepatic bile duct adenoma MONDO:0004251 small intestine neoplasm MONDO:0021118 DOID:7505 DOID:4610 intestinal neoplasm MONDO:0004256 lumbar spinal canal and spinal cord meningioma MONDO:0001279 DOID:7515 DOID:1140 intraspinal meningioma MONDO:0004257 childhood central nervous system mixed germ cell tumor MONDO:0003750 DOID:7516 DOID:6052 childhood central nervous system germ cell tumor MONDO:0004259 endocervical carcinoma MONDO:0005131 DOID:7519 DOID:2893 cervical carcinoma MONDO:0004260 peptic ulcer perforation MONDO:0004247 DOID:752 DOID:750 peptic ulcer disease MONDO:0004261 periductal breast myoepitheliosis MONDO:0004262 DOID:7520 DOID:7521 breast myoepitheliosis MONDO:0004262 breast myoepitheliosis MONDO:0002483 DOID:7521 DOID:3004 breast myoepithelial tumor MONDO:0004263 pediatric infratentorial ependymoblastoma MONDO:0002915 DOID:7522 DOID:4207 childhood infratentorial neoplasm MONDO:0004264 acute gonococcal endometritis MONDO:0004265 DOID:7527 DOID:7528 acute endometritis MONDO:0004265 acute endometritis MONDO:0000918 DOID:7528 DOID:1002 endometritis MONDO:0004266 anal gland adenocarcinoma MONDO:0002652 DOID:7531 DOID:3447 anus adenocarcinoma MONDO:0004269 breast cystic hypersecretory carcinoma MONDO:0003208 DOID:7537 DOID:4922 breast secretory carcinoma MONDO:0004270 breast ductal adenoma MONDO:0002058 DOID:7538 DOID:1625 breast adenoma MONDO:0004271 pregnancy adenoma MONDO:0002058 DOID:7539 DOID:1625 breast adenoma MONDO:0004272 urinary bladder tuberculosis MONDO:0006002 DOID:754 DOID:2149 urogenital tuberculosis MONDO:0004272 urinary bladder tuberculosis MONDO:0006026 DOID:754 DOID:365 urinary bladder disorder MONDO:0004273 breast apocrine adenoma MONDO:0002058 DOID:7540 DOID:1625 breast adenoma MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma MONDO:0006043 DOID:7541 DOID:4680 metaplastic breast carcinoma MONDO:0004275 osteosarcoma arising in bone Paget disease MONDO:0002629 DOID:7542 DOID:3376 bone osteosarcoma MONDO:0004277 gonorrhea MONDO:0000314 DOID:7551 DOID:0050338 primary bacterial infectious disease MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant MONDO:0003890 DOID:7553 DOID:6477 infiltrating bladder urothelial carcinoma MONDO:0004279 glossopharyngeal motor neuropathy MONDO:0002639 DOID:7558 DOID:3418 glossopharyngeal nerve disorder MONDO:0004280 asymmetric motor neuropathy MONDO:0004004 DOID:7559 DOID:683 motor nerve neuritis MONDO:0004286 pancreatic intraductal papillary-mucinous neoplasm MONDO:0002116 DOID:7575 DOID:1795 malignant exocrine pancreas neoplasm MONDO:0004289 glottis verrucous carcinoma MONDO:0004080 DOID:7583 DOID:7031 glottis squamous cell carcinoma MONDO:0004290 subglottis verrucous carcinoma MONDO:0004291 DOID:7584 DOID:7585 subglottis squamous cell carcinoma MONDO:0004291 subglottis squamous cell carcinoma MONDO:0004358 DOID:7585 DOID:7764 subglottis carcinoma MONDO:0004292 supraglottis verrucous carcinoma MONDO:0004293 DOID:7586 DOID:7587 supraglottis squamous cell carcinoma MONDO:0004293 supraglottis squamous cell carcinoma MONDO:0004357 DOID:7587 DOID:7763 carcinoma of supraglottis MONDO:0004294 gestational ovarian choriocarcinoma MONDO:0003507 DOID:7591 DOID:5550 choriocarcinoma of ovary MONDO:0004295 asbestos-related lung carcinoma MONDO:0005138 DOID:7596 DOID:3905 lung carcinoma MONDO:0004296 cervical lymphoepithelioma-like carcinoma MONDO:0006143 DOID:7598 DOID:3744 cervical squamous cell carcinoma MONDO:0004297 lymphoepithelioma-like thymic carcinoma MONDO:0006451 DOID:7599 DOID:3284 thymic carcinoma MONDO:0004298 stomach disorder MONDO:0004335 DOID:76 DOID:77 digestive system disorder MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma MONDO:0003890 DOID:7600 DOID:6477 infiltrating bladder urothelial carcinoma MONDO:0004301 fibrosarcomatous osteosarcoma MONDO:0002631 DOID:7603 DOID:7602 conventional osteosarcoma MONDO:0004302 chief cell adenoma MONDO:0006890 DOID:7607 DOID:7608 parathyroid gland adenoma MONDO:0004303 parathyroid gland clear cell adenoma MONDO:0006890 DOID:7609 DOID:7608 parathyroid gland adenoma MONDO:0004304 mixed cell type adenoma of parathyroid MONDO:0006890 DOID:7610 DOID:7608 parathyroid gland adenoma MONDO:0004305 parathyroid oncocytic adenoma MONDO:0006890 DOID:7611 DOID:7608 parathyroid gland adenoma MONDO:0004306 childhood intracortical osteosarcoma MONDO:0002631 DOID:7612 DOID:7602 conventional osteosarcoma MONDO:0004307 sarcomatosis of the meninges MONDO:0004308 DOID:7613 DOID:7614 meningeal sarcoma MONDO:0004309 sarcomatosis MONDO:0005089 DOID:7615 DOID:1115 sarcoma MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered MONDO:0016715 DOID:7631 DOID:0080903 ependymoblastoma MONDO:0004311 carcinoma of Cowper glands MONDO:0005836 DOID:7632 DOID:3856 male reproductive organ cancer MONDO:0004313 gasserian ganglion meningioma MONDO:0016642 DOID:7635 DOID:3565 meningioma MONDO:0004314 malignant cutaneous granular cell skin tumor MONDO:0003363 DOID:7639 DOID:5274 malignant dermis tumor MONDO:0004315 cholangiolocellular carcinoma MONDO:0003210 DOID:7642 DOID:4928 intrahepatic cholangiocarcinoma MONDO:0004316 acantholytic squamous cell skin carcinoma MONDO:0002529 DOID:7643 DOID:3151 skin squamous cell carcinoma MONDO:0004317 multiple spinal canal and spinal cord meningioma MONDO:0001279 DOID:7646 DOID:1140 intraspinal meningioma MONDO:0004318 pulmonary type ovarian small cell carcinoma MONDO:0003795 DOID:7650 DOID:6179 ovarian small cell carcinoma MONDO:0004319 hypercalcemic type ovarian small cell carcinoma MONDO:0003795 DOID:7651 DOID:6179 ovarian small cell carcinoma MONDO:0004320 adult infiltrating astrocytic neoplasm MONDO:0002503 DOID:7656 DOID:3076 adult astrocytic tumor MONDO:0004321 endometrial mixed adenocarcinoma MONDO:0005461 DOID:7664 DOID:2870 endometrium adenocarcinoma MONDO:0004322 non-gestational ovarian choriocarcinoma MONDO:0003408 DOID:7665 DOID:5351 ovarian primitive germ cell tumor MONDO:0004322 non-gestational ovarian choriocarcinoma MONDO:0003507 DOID:7665 DOID:5550 choriocarcinoma of ovary MONDO:0004323 muscular atrophy MONDO:0005336 DOID:767 DOID:423 myopathy MONDO:0004328 maxillary sinus adenocarcinoma MONDO:0001748 DOID:7684 DOID:1357 maxillary sinus carcinoma MONDO:0004328 maxillary sinus adenocarcinoma MONDO:0004970 DOID:7684 DOID:299 adenocarcinoma MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia MONDO:0004285 DOID:7685 DOID:7574 pancreatic intraductal papillary-mucinous carcinoma MONDO:0004330 leptomeningeal sarcoma MONDO:0003762 DOID:7689 DOID:6086 malignant leptomeningeal tumor MONDO:0004331 bladder urachal adenocarcinoma MONDO:0001378 DOID:7694 DOID:11817 urachus cancer MONDO:0004331 bladder urachal adenocarcinoma MONDO:0002751 DOID:7694 DOID:3711 bladder adenocarcinoma MONDO:0004332 lung hilum cancer MONDO:0008903 DOID:7696 DOID:1324 lung cancer MONDO:0004336 rectal signet ring cell adenocarcinoma MONDO:0002169 DOID:7707 DOID:1996 rectum adenocarcinoma MONDO:0004337 perianal skin Paget disease MONDO:0002941 DOID:7708 DOID:4284 anal margin carcinoma MONDO:0004338 retinal cell cancer MONDO:0003072 DOID:771 DOID:4645 retinal cancer MONDO:0004339 tuberculum sellae meningioma MONDO:0002720 DOID:7713 DOID:3643 sella turcica neoplasm MONDO:0004340 mixed ductal-endocrine carcinoma of pancreas MONDO:0005184 DOID:7716 DOID:3498 pancreatic ductal adenocarcinoma MONDO:0004345 childhood malignant schwannoma MONDO:0017827 DOID:7732 DOID:5940 malignant peripheral nerve sheath tumor MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma MONDO:0003210 DOID:7733 DOID:4928 intrahepatic cholangiocarcinoma MONDO:0004348 retinal telangiectasia MONDO:0002311 DOID:7736 DOID:2462 retinal vascular disorder MONDO:0004349 retina lymphoma MONDO:0003072 DOID:774 DOID:4645 retinal cancer MONDO:0004350 pediatric extraocular retinoblastoma MONDO:0003078 DOID:7747 DOID:4656 extraocular retinoblastoma MONDO:0004351 intraocular lymphoma MONDO:0004034 DOID:775 DOID:6903 eye lymphoma MONDO:0004352 adult brain ependymoma MONDO:0004245 DOID:7750 DOID:7497 ependymal tumor of brain MONDO:0004353 extrahepatic biliary papillomatosis MONDO:0003455 DOID:7752 DOID:5468 bile duct papillary neoplasm MONDO:0004354 neonatal leukemia MONDO:0004355 DOID:7756 DOID:7757 childhood leukemia MONDO:0004355 childhood leukemia MONDO:0005059 DOID:7757 DOID:1240 leukemia MONDO:0004357 carcinoma of supraglottis MONDO:0001724 DOID:7763 DOID:13476 supraglottis cancer MONDO:0004358 subglottis carcinoma MONDO:0001293 DOID:7764 DOID:11472 subglottis cancer MONDO:0004359 delusional disorder MONDO:0005485 DOID:778 DOID:2468 psychotic disorder MONDO:0004360 breast extraskeletal osteosarcoma MONDO:0002490 DOID:7787 DOID:3017 breast sarcoma MONDO:0004361 adult spinal cord ependymoma MONDO:0003473 DOID:7788 DOID:5503 spinal cord ependymoma MONDO:0004363 adult spinal cord glioblastoma MONDO:0002542 DOID:7806 DOID:3185 spinal cord glioma MONDO:0004364 choroid necrotic melanoma MONDO:0004365 DOID:7807 DOID:7808 necrotic uveal melanoma MONDO:0004365 necrotic uveal melanoma MONDO:0006486 DOID:7808 DOID:6039 uveal melanoma MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma MONDO:0003268 DOID:7817 DOID:5076 mixed glioma MONDO:0004367 petroclival meningioma MONDO:0002998 DOID:7818 DOID:4437 skull base meningioma MONDO:0004368 sphenoorbital meningioma MONDO:0002998 DOID:7819 DOID:4437 skull base meningioma MONDO:0004369 renal infectious disease MONDO:0005240 DOID:782 DOID:557 kidney disorder MONDO:0004370 sphenocavernous meningioma MONDO:0002998 DOID:7820 DOID:4437 skull base meningioma MONDO:0004372 chronic toxic polyneuropathy MONDO:0003335 DOID:7825 DOID:5221 chronic polyneuropathy MONDO:0004373 adult papillary meningioma MONDO:0003262 DOID:7826 DOID:5058 rhabdoid meningioma MONDO:0004374 adult extraskeletal osteosarcoma MONDO:0002621 DOID:7827 DOID:3357 extraosseous osteosarcoma MONDO:0004375 end stage renal failure MONDO:0005300 DOID:783 DOID:784 chronic kidney disease MONDO:0004376 infiltrating nipple syringomatous adenoma MONDO:0002482 DOID:7839 DOID:3003 nipple neoplasm MONDO:0004377 pancreatic non-functioning delta cell tumor MONDO:0002994 DOID:7840 DOID:4433 pancreatic delta cell neuroendocrine tumor MONDO:0004377 pancreatic non-functioning delta cell tumor MONDO:0004334 DOID:7840 DOID:7698 non-functional pancreatic neuroendocrine tumor MONDO:0004378 pediatric cerebral ependymoblastoma MONDO:0016715 DOID:7841 DOID:0080903 ependymoblastoma MONDO:0004379 female breast carcinoma MONDO:0004989 DOID:7843 DOID:3459 breast carcinoma MONDO:0004380 dendritic cell sarcoma MONDO:0005089 DOID:7849 DOID:1115 sarcoma MONDO:0004382 laryngeal disorder MONDO:0004867 DOID:786 DOID:974 upper respiratory tract disorder MONDO:0004383 adult central nervous system germinoma MONDO:0002999 DOID:7867 DOID:4438 central nervous system germinoma MONDO:0004386 uterine corpus atypical polypoid adenomyoma MONDO:0003237 DOID:7878 DOID:4994 adenomyoma of uterine corpus MONDO:0004389 mite infestation MONDO:0002875 DOID:7894 DOID:4110 parasitic ectoparasitic infectious disease MONDO:0004390 ocular hypotension MONDO:0005328 DOID:790 DOID:5614 eye disorder MONDO:0004393 mixed astrocytoma-ependymoma MONDO:0003268 DOID:7907 DOID:5076 mixed glioma MONDO:0004394 maxillary sinus squamous cell carcinoma MONDO:0001748 DOID:7910 DOID:1357 maxillary sinus carcinoma MONDO:0004396 cervical spinal canal and spinal cord meningioma MONDO:0001279 DOID:7915 DOID:1140 intraspinal meningioma MONDO:0004397 benign mediastinal psammomatous neurilemmoma MONDO:0004398 DOID:7921 DOID:6175 mediastinal schwannoma MONDO:0004398 mediastinal schwannoma MONDO:0004820 DOID:6175 DOID:956 peripheral nerve schwannoma MONDO:0004400 malignant type A thymoma MONDO:0002588 DOID:7927 DOID:3279 thymoma type A MONDO:0004401 testis refractory cancer MONDO:0003510 DOID:7928 DOID:5556 malignant testicular germ cell tumor MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern MONDO:0003402 DOID:7930 DOID:5344 testicular yolk sac tumor MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia MONDO:0004111 DOID:7936 DOID:712 refractory hematologic cancer MONDO:0004405 Barrett adenocarcinoma MONDO:0005028 DOID:7941 DOID:4914 esophageal adenocarcinoma MONDO:0004406 adult central nervous system mixed germ cell tumor MONDO:0003405 DOID:7945 DOID:5349 adult central nervous system germ cell tumor MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma MONDO:0003325 DOID:7949 DOID:5193 nodular ganglioneuroblastoma MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma MONDO:0003325 DOID:7951 DOID:5193 nodular ganglioneuroblastoma MONDO:0004409 nipple duct carcinoma MONDO:0003950 DOID:7953 DOID:6629 nipple carcinoma MONDO:0004410 sarcomatoid penile squamous cell carcinoma MONDO:0018352 DOID:7958 DOID:5518 squamous cell carcinoma of penis MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor MONDO:0003523 DOID:7959 DOID:5577 gastrin-producing neuroendocrine tumor MONDO:0004413 cervical non-keratinizing squamous cell carcinoma MONDO:0006143 DOID:7961 DOID:3744 cervical squamous cell carcinoma MONDO:0004414 tamoxifen-related endometrial lesion MONDO:0000931 DOID:7962 DOID:1005 endometrial disorder MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma MONDO:0003890 DOID:7967 DOID:6477 infiltrating bladder urothelial carcinoma MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma MONDO:0003890 DOID:7968 DOID:6477 infiltrating bladder urothelial carcinoma MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma MONDO:0003890 DOID:7969 DOID:6477 infiltrating bladder urothelial carcinoma MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma MONDO:0003890 DOID:7971 DOID:6477 infiltrating bladder urothelial carcinoma MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma MONDO:0003890 DOID:7972 DOID:6477 infiltrating bladder urothelial carcinoma MONDO:0004421 sclerosing breast papilloma MONDO:0021097 DOID:7984 DOID:1626 intraductal breast papilloma MONDO:0004422 cerebral falx meningioma MONDO:0002997 DOID:7986 DOID:4436 anterior cranial fossa meningioma MONDO:0004425 hyperthyroidism MONDO:0003240 DOID:7998 DOID:50 thyroid gland disorder MONDO:0004426 frontal convexity meningioma MONDO:0003774 DOID:8000 DOID:6114 cerebral convexity meningioma MONDO:0004429 skin meningioma MONDO:0002898 DOID:8006 DOID:4159 skin cancer MONDO:0004429 skin meningioma MONDO:0016642 DOID:8006 DOID:3565 meningioma MONDO:0004430 penis mixed squamous cell carcinoma MONDO:0018352 DOID:8009 DOID:5518 squamous cell carcinoma of penis MONDO:0004431 hemarthrosis MONDO:0006816 DOID:801 DOID:381 arthropathy MONDO:0004433 papillary carcinoma of the penis MONDO:0018352 DOID:8013 DOID:5518 squamous cell carcinoma of penis MONDO:0004435 liver fibrosarcoma MONDO:0002397 DOID:8022 DOID:270 liver sarcoma MONDO:0004436 ovarian myxoid liposarcoma MONDO:0003589 DOID:8023 DOID:5697 liposarcoma of the ovary MONDO:0004436 ovarian myxoid liposarcoma MONDO:0013280 DOID:8023 DOID:5363 myxoid liposarcoma MONDO:0004438 sporadic breast cancer MONDO:0004989 DOID:8029 DOID:3459 breast carcinoma MONDO:0004439 periocular meningioma MONDO:0016642 DOID:8030 DOID:3565 meningioma MONDO:0004440 pineal region meningioma MONDO:0016642 DOID:8031 DOID:3565 meningioma MONDO:0004441 childhood ovarian embryonal carcinoma MONDO:0003581 DOID:8036 DOID:5681 ovarian embryonal carcinoma MONDO:0004442 testis polyembryoma MONDO:0003510 DOID:8042 DOID:5556 malignant testicular germ cell tumor MONDO:0004443 chest wall parachordoma MONDO:0006351 DOID:8043 DOID:2647 parachordoma MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma MONDO:0003386 DOID:8050 DOID:5306 bladder clear cell adenocarcinoma MONDO:0004445 bladder papillary clear cell adenocarcinoma MONDO:0003386 DOID:8051 DOID:5306 bladder clear cell adenocarcinoma MONDO:0004446 olfactory groove meningioma MONDO:0002997 DOID:8057 DOID:4436 anterior cranial fossa meningioma MONDO:0004449 intraductal breast myoepitheliosis MONDO:0004262 DOID:8068 DOID:7521 breast myoepitheliosis MONDO:0004450 carotid artery occlusion MONDO:0003718 DOID:807 DOID:5976 occlusion precerebral artery MONDO:0004450 carotid artery occlusion MONDO:0005269 DOID:807 DOID:3407 carotid artery disorder MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma MONDO:0003210 DOID:8072 DOID:4928 intrahepatic cholangiocarcinoma MONDO:0004452 childhood central nervous system germinoma MONDO:0002999 DOID:8078 DOID:4438 central nervous system germinoma MONDO:0004453 testicular yolk sac tumor, myxomatous pattern MONDO:0003402 DOID:8081 DOID:5344 testicular yolk sac tumor MONDO:0004454 cellular congenital mesoblastic nephroma MONDO:0017043 DOID:8082 DOID:4773 congenital mesoblastic nephroma MONDO:0004455 classic congenital mesoblastic nephroma MONDO:0017043 DOID:8083 DOID:4773 congenital mesoblastic nephroma MONDO:0004456 cocaine abuse MONDO:0002491 DOID:809 DOID:302 substance abuse MONDO:0004458 bladder mixed adenocarcinoma MONDO:0002751 DOID:8096 DOID:3711 bladder adenocarcinoma MONDO:0004459 bladder hepatoid adenocarcinoma MONDO:0002751 DOID:8097 DOID:3711 bladder adenocarcinoma MONDO:0004460 thyroid gland fetal adenoma MONDO:0005032 DOID:8102 DOID:6204 follicular thyroid adenoma MONDO:0004461 vaginal tubulovillous adenoma MONDO:0003434 DOID:8104 DOID:5402 vaginal adenoma MONDO:0004462 extrahepatic bile duct cystadenoma MONDO:0003420 DOID:8105 DOID:5384 bile duct cystadenoma MONDO:0004463 cellular phase chronic idiopathic myelofibrosis MONDO:0009692 DOID:8106 DOID:4971 primary myelofibrosis MONDO:0004464 nephrogenic adenoma of the urethra MONDO:0004177 DOID:8109 DOID:730 benign urethral neoplasm MONDO:0004464 nephrogenic adenoma of the urethra MONDO:0004191 DOID:8109 DOID:7334 nephrogenic adenoma MONDO:0004465 periampullary adenocarcinoma MONDO:0002670 DOID:8110 DOID:3502 ampulla of vater adenocarcinoma MONDO:0004467 mature gastric teratoma MONDO:0003513 DOID:8118 DOID:5561 gastric teratoma MONDO:0004468 anal canal Paget disease MONDO:0002735 DOID:8119 DOID:3692 anal canal adenocarcinoma MONDO:0004469 pseudovascular skin squamous cell carcinoma MONDO:0002529 DOID:8122 DOID:3151 skin squamous cell carcinoma MONDO:0004472 breast columnar cell mucinous carcinoma MONDO:0002707 DOID:8130 DOID:3610 breast mucinous carcinoma MONDO:0004474 gallbladder lymphoma MONDO:0005411 DOID:8135 DOID:3121 gallbladder cancer MONDO:0004475 thymus clear cell carcinoma MONDO:0006451 DOID:8137 DOID:3284 thymic carcinoma MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0003864 DOID:8144 DOID:6354 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004479 malignant childhood germ cell neoplasm MONDO:0003751 DOID:8149 DOID:6053 childhood germ cell tumor MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma MONDO:0004285 DOID:8150 DOID:7574 pancreatic intraductal papillary-mucinous carcinoma MONDO:0004483 thyroid gland oncocytic adenoma MONDO:0005032 DOID:8162 DOID:6204 follicular thyroid adenoma MONDO:0004484 gallbladder melanoma MONDO:0005411 DOID:8167 DOID:3121 gallbladder cancer MONDO:0004485 interstitial myocarditis MONDO:0004496 DOID:817 DOID:820 myocarditis MONDO:0004486 endocervical type cervical adenomyoma MONDO:0003238 DOID:8177 DOID:4995 cervical adenomyoma MONDO:0004487 endometrial type cervical adenomyoma MONDO:0003238 DOID:8178 DOID:4995 cervical adenomyoma MONDO:0004488 cervical atypical polypoid adenomyoma MONDO:0003238 DOID:8179 DOID:4995 cervical adenomyoma MONDO:0004489 fallopian tube gestational choriocarcinoma MONDO:0006206 DOID:8186 DOID:1963 fallopian tube carcinoma MONDO:0004489 fallopian tube gestational choriocarcinoma MONDO:0020550 DOID:8186 DOID:2025 gestational choriocarcinoma MONDO:0004491 uterine corpus choriocarcinoma MONDO:0020550 DOID:8187 DOID:2025 gestational choriocarcinoma MONDO:0004493 testicular yolk sac tumor, papillary pattern MONDO:0003402 DOID:8193 DOID:5344 testicular yolk sac tumor MONDO:0004494 testicular yolk sac tumor, hepatoid pattern MONDO:0003402 DOID:8195 DOID:5344 testicular yolk sac tumor MONDO:0004495 myotonic cataract MONDO:0005129 DOID:82 DOID:83 cataract MONDO:0004497 tertiary syphilis MONDO:0005976 DOID:8200 DOID:4166 syphilis MONDO:0004498 sacral spinal canal and spinal cord meningioma MONDO:0001279 DOID:8203 DOID:1140 intraspinal meningioma MONDO:0004499 lung hilum carcinoma MONDO:0004332 DOID:8207 DOID:7696 lung hilum cancer MONDO:0004499 lung hilum carcinoma MONDO:0005138 DOID:8207 DOID:3905 lung carcinoma MONDO:0004500 lung superior sulcus carcinoma MONDO:0006883 DOID:8208 DOID:8007 malignant superior sulcus neoplasm MONDO:0004501 fallopian tube cystadenofibroma MONDO:0003461 DOID:8211 DOID:5478 fallopian tube serous adenofibroma MONDO:0004502 parapharyngeal meningioma MONDO:0016642 DOID:8216 DOID:3565 meningioma MONDO:0004503 upper clivus meningioma MONDO:0003908 DOID:8221 DOID:6517 clivus meningioma MONDO:0004504 penile urethral cancer MONDO:0004197 DOID:8223 DOID:736 male urethral cancer MONDO:0004505 central breast papilloma MONDO:0021097 DOID:8224 DOID:1626 intraductal breast papilloma MONDO:0004506 microscopic breast papilloma MONDO:0021097 DOID:8225 DOID:1626 intraductal breast papilloma MONDO:0004507 atypical breast papilloma MONDO:0021097 DOID:8227 DOID:1626 intraductal breast papilloma MONDO:0004508 periapical periodontitis MONDO:0005076 DOID:823 DOID:824 periodontitis MONDO:0004509 intrahepatic biliary papillomatosis MONDO:0003455 DOID:8230 DOID:5468 bile duct papillary neoplasm MONDO:0004510 inflammatory liposarcoma MONDO:0006097 DOID:8233 DOID:5690 atypical lipomatous tumor MONDO:0004511 lower clivus meningioma MONDO:0003908 DOID:8239 DOID:6517 clivus meningioma MONDO:0004513 adult pleomorphic rhabdomyosarcoma MONDO:0017386 DOID:8251 DOID:3250 pleomorphic rhabdomyosarcoma MONDO:0004514 chronic rhinitis MONDO:0003014 DOID:8252 DOID:4483 rhinitis MONDO:0004516 bulbomembranous urethral cancer MONDO:0004197 DOID:8259 DOID:736 male urethral cancer MONDO:0004517 ureter tuberculosis MONDO:0001926 DOID:827 DOID:1426 ureteral disorder MONDO:0004517 ureter tuberculosis MONDO:0006002 DOID:827 DOID:2149 urogenital tuberculosis MONDO:0004519 synovial angioma MONDO:0006500 DOID:8274 DOID:255 hemangioma MONDO:0004520 intratubular embryonal carcinoma MONDO:0006446 DOID:8275 DOID:5680 testicular embryonal carcinoma MONDO:0004521 adult epithelioid sarcoma MONDO:0017387 DOID:8282 DOID:6193 epithelioid sarcoma MONDO:0004523 clear cell squamous cell skin carcinoma MONDO:0002529 DOID:8288 DOID:3151 skin squamous cell carcinoma MONDO:0004524 thyroid gland atypical follicular adenoma MONDO:0005032 DOID:8292 DOID:6204 follicular thyroid adenoma MONDO:0004525 scabies MONDO:0004389 DOID:8295 DOID:7894 mite infestation MONDO:0004530 early invasive cervical adenocarcinoma MONDO:0005153 DOID:8307 DOID:3702 cervical adenocarcinoma MONDO:0004531 sclerosing adenosis of breast MONDO:0002585 DOID:8310 DOID:3274 breast fibrocystic change, proliferative type MONDO:0004532 auditory system cancer MONDO:0000649 DOID:833 DOID:0060116 sensory system cancer MONDO:0004532 auditory system cancer MONDO:0002409 DOID:833 DOID:2742 auditory system disorder MONDO:0004534 microglandular adenosis of breast MONDO:0003725 DOID:8335 DOID:5998 breast adenosis MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma MONDO:0002742 DOID:8339 DOID:3701 cervical mucinous adenocarcinoma MONDO:0004538 endocervical type cervical mucinous adenocarcinoma MONDO:0002742 DOID:8340 DOID:3701 cervical mucinous adenocarcinoma MONDO:0004539 aortic malignant tumor MONDO:0005561 DOID:8352 DOID:520 aortic disorder MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor MONDO:0017827 DOID:8353 DOID:5940 malignant peripheral nerve sheath tumor MONDO:0004541 pseudoglandular variant testicular seminoma MONDO:0003669 DOID:8358 DOID:5842 testicular seminoma MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant MONDO:0006134 DOID:8361 DOID:5636 cervical adenosquamous carcinoma MONDO:0004543 enteric pattern testicular yolk sac tumor MONDO:0003402 DOID:8362 DOID:5344 testicular yolk sac tumor MONDO:0004545 adult malignant schwannoma MONDO:0017827 DOID:8369 DOID:5940 malignant peripheral nerve sheath tumor MONDO:0004546 lumbar plexus neoplasm MONDO:0003100 DOID:8389 DOID:4693 nerve plexus neoplasm MONDO:0004547 reticular pattern testicular yolk sac tumor MONDO:0003402 DOID:8392 DOID:5344 testicular yolk sac tumor MONDO:0004548 adult type testicular granulosa cell tumor MONDO:0003395 DOID:8394 DOID:5331 testicular granulosa cell tumor MONDO:0004549 cork-handlers' disease MONDO:0017853 DOID:840 DOID:841 hypersensitivity pneumonitis MONDO:0004550 malignant cornea melanoma MONDO:0003802 DOID:8400 DOID:6199 cornea cancer MONDO:0004552 microinvasive cervical squamous cell carcinoma MONDO:0006143 DOID:8409 DOID:3744 cervical squamous cell carcinoma MONDO:0004554 childhood kidney angiomyolipoma MONDO:0004555 DOID:8410 DOID:8411 kidney angiomyolipoma MONDO:0004555 kidney angiomyolipoma MONDO:0002513 DOID:8411 DOID:3116 kidney benign neoplasm MONDO:0004556 carcinoma arising in nasal papillomatosis MONDO:0003212 DOID:8415 DOID:4931 nasal cavity carcinoma MONDO:0004557 congenital fibrosarcoma MONDO:0002678 DOID:8418 DOID:3520 pediatric fibrosarcoma MONDO:0004558 thyroid gland macrofollicular adenoma MONDO:0005032 DOID:8419 DOID:6204 follicular thyroid adenoma MONDO:0004559 malignant glandular tumor of peripheral nerve sheath MONDO:0017827 DOID:8420 DOID:5940 malignant peripheral nerve sheath tumor MONDO:0004560 follicular infundibulum tumor MONDO:0003413 DOID:8426 DOID:5375 hair follicle neoplasm MONDO:0004561 retinal melanoma MONDO:0003072 DOID:8427 DOID:4645 retinal cancer MONDO:0004562 breast apocrine carcinoma in situ MONDO:0004658 DOID:8428 DOID:8791 breast carcinoma in situ MONDO:0004563 physiological polycythemia MONDO:0005571 DOID:8431 DOID:8432 polycythemia MONDO:0004564 thyroid malformation MONDO:0003240 DOID:8433 DOID:50 thyroid gland disorder MONDO:0004565 intestinal obstruction MONDO:0005020 DOID:8437 DOID:5295 intestinal disorder MONDO:0004566 postgastrectomy syndrome MONDO:0001318 DOID:8439 DOID:1159 functional gastric disease MONDO:0004566 postgastrectomy syndrome MONDO:0005020 DOID:8439 DOID:5295 intestinal disorder MONDO:0004567 ileus MONDO:0004565 DOID:8440 DOID:8437 intestinal obstruction MONDO:0004569 brachial plexus neuropathy from injury MONDO:0006683 DOID:8443 DOID:3690 brachial plexus neuropathy MONDO:0004570 intestinal volvulus MONDO:0004565 DOID:8445 DOID:8437 intestinal obstruction MONDO:0004571 intestinal impaction MONDO:0004565 DOID:8448 DOID:8437 intestinal obstruction MONDO:0004573 ariboflavinosis MONDO:0006873 DOID:8454 DOID:5113 nutritional deficiency disease MONDO:0004575 choline deficiency disease MONDO:0006873 DOID:8456 DOID:5113 nutritional deficiency disease MONDO:0004577 corneal ulcer MONDO:0003085 DOID:8463 DOID:4677 keratitis MONDO:0004578 flat retinoschisis MONDO:0004579 DOID:8464 DOID:8465 retinoschisis MONDO:0004579 retinoschisis MONDO:0004580 DOID:8465 DOID:8466 retinal degeneration MONDO:0004580 retinal degeneration MONDO:0005283 DOID:8466 DOID:5679 retinal disorder MONDO:0004582 rheumatic myocarditis MONDO:0004496 DOID:8481 DOID:820 myocarditis MONDO:0004583 transient retinal arterial occlusion MONDO:0006948 DOID:8482 DOID:8483 retinal artery occlusion MONDO:0004584 maple bark strippers' lung MONDO:0002312 DOID:8484 DOID:2473 opportunistic mycosis MONDO:0004588 night blindness MONDO:0005283 DOID:8499 DOID:5679 retinal disorder MONDO:0004591 impetigo herpetiformis MONDO:0004592 DOID:8503 DOID:8504 impetigo MONDO:0004592 impetigo MONDO:0002922 DOID:8504 DOID:4223 pyoderma MONDO:0004594 puerperal pulmonary embolism MONDO:0005279 DOID:8512 DOID:9477 pulmonary embolism MONDO:0004596 cor pulmonale MONDO:0005009 DOID:8515 DOID:6000 congestive heart failure MONDO:0004598 acute cor pulmonale MONDO:0004596 DOID:8514 DOID:8515 cor pulmonale MONDO:0004599 barbiturate abuse MONDO:0002491 DOID:8519 DOID:302 substance abuse MONDO:0004601 ulcer of lower limbs MONDO:0004605 DOID:8529 DOID:8549 chronic ulcer of skin MONDO:0004605 chronic ulcer of skin MONDO:0005093 DOID:8549 DOID:37 skin disorder MONDO:0004607 vallecula cancer MONDO:0004608 DOID:8556 DOID:8557 oropharynx cancer MONDO:0004608 oropharynx cancer MONDO:0005517 DOID:8557 DOID:0060119 pharynx cancer MONDO:0004611 soft palate cancer MONDO:0005515 DOID:8578 DOID:8618 oral cavity cancer MONDO:0004612 malignant histiocytosis MONDO:0002637 DOID:2570 DOID:3405 histiocytosis MONDO:0004614 chronic monocytic leukemia MONDO:0004600 DOID:8593 DOID:8527 monocytic leukemia MONDO:0004615 upper gum cancer MONDO:0005507 DOID:8601 DOID:8602 gingival cancer MONDO:0004616 herpetic whitlow MONDO:0004609 DOID:8607 DOID:8566 herpes simplex infectious disease MONDO:0004617 recurrent hypersomnia MONDO:0003406 DOID:8619 DOID:535 sleep-wake disorder MONDO:0004618 diplegia of upper limb MONDO:0005071 DOID:862 DOID:863 nervous system disorder MONDO:0004621 upper lip cancer MONDO:0006834 DOID:8630 DOID:8564 lip cancer MONDO:0004622 chronic intestinal vascular insufficiency MONDO:0005020 DOID:8633 DOID:5295 intestinal disorder MONDO:0004624 uvula cancer MONDO:0004611 DOID:8635 DOID:8578 soft palate cancer MONDO:0004625 phlebitis MONDO:0004634 DOID:864 DOID:866 vein disorder MONDO:0004630 substance-induced psychosis MONDO:0005485 DOID:8646 DOID:2468 psychotic disorder MONDO:0004631 tongue cancer MONDO:0005515 DOID:8649 DOID:8618 oral cavity cancer MONDO:0004634 vein disorder MONDO:0005385 DOID:866 DOID:178 vascular disorder MONDO:0004635 postcricoid region cancer MONDO:0005806 DOID:8660 DOID:8533 hypopharynx cancer MONDO:0004636 lip carcinoma in situ MONDO:0000371 DOID:8661 DOID:0050610 oral cavity carcinoma in situ MONDO:0004637 aryepiglottic fold cancer MONDO:0005806 DOID:8663 DOID:8533 hypopharynx cancer MONDO:0004640 alcoholic gastritis MONDO:0004966 DOID:8680 DOID:4029 gastritis MONDO:0004641 skin carcinoma in situ MONDO:0004647 DOID:8687 DOID:8719 in situ carcinoma MONDO:0004643 myeloid leukemia MONDO:0005059 DOID:8692 DOID:1240 leukemia MONDO:0004645 cheek mucosa cancer MONDO:0005515 DOID:8702 DOID:8618 oral cavity cancer MONDO:0004646 decubitus ulcer MONDO:0004605 DOID:8717 DOID:8549 chronic ulcer of skin MONDO:0004648 vascular dementia MONDO:0001627 DOID:8725 DOID:1307 dementia MONDO:0004650 malignant carotid body paraganglioma MONDO:0002095 DOID:8731 DOID:175 vascular cancer MONDO:0004652 bacterial pneumonia MONDO:0005113 DOID:874 DOID:104 bacterial infectious disease MONDO:0004652 bacterial pneumonia MONDO:0005249 DOID:874 DOID:552 pneumonia MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:0006311 DOID:0060597 DOID:4972 myelodysplastic/myeloproliferative neoplasm MONDO:0004657 disseminated chorioretinitis MONDO:0004674 DOID:8787 DOID:8886 chorioretinitis MONDO:0004658 breast carcinoma in situ MONDO:0004647 DOID:8791 DOID:8719 in situ carcinoma MONDO:0004659 eye carcinoma in situ MONDO:0004647 DOID:8792 DOID:8719 in situ carcinoma MONDO:0004660 lung carcinoma in situ MONDO:0004647 DOID:8800 DOID:8719 in situ carcinoma MONDO:0004662 heterophyiasis MONDO:0004664 DOID:882 DOID:883 helminthiasis MONDO:0004663 colon carcinoma in situ MONDO:0004698 DOID:8826 DOID:9024 intestine carcinoma in situ MONDO:0004664 helminthiasis MONDO:0005135 DOID:883 DOID:1398 parasitic infectious disease MONDO:0004666 metagonimiasis MONDO:0004664 DOID:884 DOID:883 helminthiasis MONDO:0004668 fascioliasis MONDO:0004664 DOID:885 DOID:883 helminthiasis MONDO:0004669 salivary gland cancer MONDO:0005515 DOID:8850 DOID:8618 oral cavity cancer MONDO:0004672 fasciolopsiasis MONDO:0004664 DOID:888 DOID:883 helminthiasis MONDO:0004673 lower lip cancer MONDO:0006834 DOID:8883 DOID:8564 lip cancer MONDO:0004675 mitochondrial encephalomyopathy MONDO:0009637 DOID:890 DOID:699 inborn mitochondrial myopathy MONDO:0004677 tinea nigra MONDO:0024268 DOID:8912 DOID:0050133 superficial mycosis MONDO:0004679 leukoplakia of vagina MONDO:0001433 DOID:8920 DOID:121 vaginal disorder MONDO:0004680 primary thrombocytopenia MONDO:0000602 DOID:8925 DOID:0060050 autoimmune disorder of blood MONDO:0004681 learning disability MONDO:0000592 DOID:8927 DOID:0060038 specific developmental disorder MONDO:0004682 retromolar area cancer MONDO:0005515 DOID:8930 DOID:8618 oral cavity cancer MONDO:0004685 Waldeyer's ring cancer MONDO:0004608 DOID:8937 DOID:8557 oropharynx cancer MONDO:0004689 inborn metal metabolism disorder MONDO:0019052 DOID:896 DOID:655 inborn errors of metabolism MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0000426 DOID:898 DOID:0050736 autosomal dominant disease MONDO:0004691 autosomal dominant polycystic kidney disease MONDO:0020642 DOID:898 DOID:0080322 polycystic kidney disease MONDO:0004694 hepatopulmonary syndrome MONDO:0005154 DOID:900 DOID:409 liver disorder MONDO:0004695 liver lymphoma MONDO:0002691 DOID:901 DOID:3571 liver cancer MONDO:0004696 larynx carcinoma in situ MONDO:0004647 DOID:9011 DOID:8719 in situ carcinoma MONDO:0004697 esophageal leukoplakia MONDO:0003749 DOID:9021 DOID:6050 esophageal disorder MONDO:0004698 intestine carcinoma in situ MONDO:0004647 DOID:9024 DOID:8719 in situ carcinoma MONDO:0004699 gastrointestinal lymphoma MONDO:0002516 DOID:903 DOID:3119 digestive system cancer MONDO:0004699 gastrointestinal lymphoma MONDO:0005062 DOID:903 DOID:0060058 lymphoma MONDO:0004701 uterine polyp MONDO:0002654 DOID:9042 DOID:345 uterine disorder MONDO:0004702 uterine cervix leukoplakia MONDO:0002256 DOID:9043 DOID:2253 cervix disorder MONDO:0004703 bladder carcinoma in situ MONDO:0004647 DOID:9053 DOID:8719 in situ carcinoma MONDO:0004705 liver solitary fibrous tumor MONDO:0024477 DOID:907 DOID:916 liver and intrahepatic bile duct neoplasm MONDO:0004706 discoid lupus erythematosus of eyelid MONDO:0002137 DOID:9076 DOID:1894 noninfectious dermatoses of eyelid MONDO:0004708 esophagus carcinoma in situ MONDO:0004647 DOID:9095 DOID:8719 in situ carcinoma MONDO:0004710 uterus carcinoma in situ MONDO:0004647 DOID:9108 DOID:8719 in situ carcinoma MONDO:0004712 herpes simplex dermatitis MONDO:0004609 DOID:9123 DOID:8566 herpes simplex infectious disease MONDO:0004713 lower gum cancer MONDO:0005507 DOID:9125 DOID:8602 gingival cancer MONDO:0004714 atrophic muscular disease MONDO:0003939 DOID:913 DOID:0080000 muscle tissue disorder MONDO:0004714 atrophic muscular disease MONDO:0019056 DOID:913 DOID:440 neuromuscular disease MONDO:0004715 liver carcinoma in situ MONDO:0004647 DOID:9132 DOID:8719 in situ carcinoma MONDO:0004716 stomach carcinoma in situ MONDO:0004647 DOID:9138 DOID:8719 in situ carcinoma MONDO:0004717 peliosis hepatis MONDO:0002405 DOID:914 DOID:272 hepatic vascular disorder MONDO:0004718 xeroderma of eyelid MONDO:0002137 DOID:9140 DOID:1894 noninfectious dermatoses of eyelid MONDO:0004719 hard palate cancer MONDO:0005515 DOID:9149 DOID:8618 oral cavity cancer MONDO:0004720 variola minor infection MONDO:0004651 DOID:9153 DOID:8736 smallpox MONDO:0004723 liver leiomyoma MONDO:0024477 DOID:917 DOID:916 liver and intrahepatic bile duct neoplasm MONDO:0004727 vestibule of mouth cancer MONDO:0005515 DOID:9188 DOID:8618 oral cavity cancer MONDO:0004728 diabetic macular edema MONDO:0005266 DOID:9191 DOID:8947 diabetic retinopathy MONDO:0004729 dyskinesia of esophagus MONDO:0003749 DOID:9192 DOID:6050 esophageal disorder MONDO:0004730 speech disorder MONDO:0002182 DOID:92 DOID:2033 communication disorder MONDO:0004731 central sleep apnea syndrome MONDO:0005296 DOID:9220 DOID:0050847 sleep apnea syndrome MONDO:0004732 kidney carcinoma in situ MONDO:0004647 DOID:9234 DOID:8719 in situ carcinoma MONDO:0004733 pyriform sinus cancer MONDO:0005806 DOID:9235 DOID:8533 hypopharynx cancer MONDO:0004736 inborn disorder of amino acid metabolism MONDO:0019052 DOID:9252 DOID:655 inborn errors of metabolism MONDO:0004737 homocystinuria MONDO:0004736 DOID:9263 DOID:9252 inborn disorder of amino acid metabolism MONDO:0004739 urea cycle disorder MONDO:0004736 DOID:9267 DOID:9252 inborn disorder of amino acid metabolism MONDO:0004744 borderline glaucoma MONDO:0005041 DOID:9283 DOID:1686 glaucoma MONDO:0004745 priapism MONDO:0005294 DOID:9286 DOID:341 peripheral vascular disease MONDO:0004746 myopathy of extraocular muscle MONDO:0005336 DOID:929 DOID:423 myopathy MONDO:0004747 cleft lip MONDO:0000358 DOID:9296 DOID:0050567 orofacial cleft MONDO:0004748 lip disorder MONDO:0006858 DOID:9297 DOID:403 mouth disorder MONDO:0004749 myocardium cancer MONDO:0001340 DOID:9299 DOID:117 heart cancer MONDO:0004750 language disorder MONDO:0002182 DOID:93 DOID:2033 communication disorder MONDO:0004752 neurofibroma of the heart MONDO:0016755 DOID:9300 DOID:962 neurofibroma MONDO:0004753 mechanical strabismus MONDO:0003432 DOID:9306 DOID:540 strabismus MONDO:0004754 rectal prolapse MONDO:0001593 DOID:9307 DOID:1285 rectal disorder MONDO:0004755 monieziasis MONDO:0004664 DOID:931 DOID:883 helminthiasis MONDO:0004756 nasal cavity neoplasm MONDO:0002232 DOID:9310 DOID:2163 nasal cavity disorder MONDO:0004757 chronic ethmoidal sinusitis MONDO:0005756 DOID:9312 DOID:9507 ethmoid sinusitis MONDO:0004758 scotoma MONDO:0005328 DOID:9335 DOID:5614 eye disorder MONDO:0004759 zoophilia MONDO:0000596 DOID:9336 DOID:0060044 paraphilic disorder MONDO:0004760 urethral false passage MONDO:0004184 DOID:9339 DOID:732 urethral disorder MONDO:0004762 Taylor syndrome MONDO:0002654 DOID:9346 DOID:345 uterine disorder MONDO:0004763 carotid artery dissection MONDO:0005269 DOID:9348 DOID:3407 carotid artery disorder MONDO:0004764 fibular collateral ligament bursitis MONDO:0002183 DOID:9358 DOID:204 enthesopathy MONDO:0004769 orbital pseudotumor MONDO:0001849 DOID:9369 DOID:1397 chronic orbital inflammation MONDO:0004772 glaucomatocyclitic crisis MONDO:0004773 DOID:9378 DOID:9383 iridocyclitis MONDO:0004773 iridocyclitis MONDO:0006651 DOID:9383 DOID:1407 anterior uveitis MONDO:0004775 lens-induced iridocyclitis MONDO:0004773 DOID:9388 DOID:9383 iridocyclitis MONDO:0004777 acute laryngitis MONDO:0002647 DOID:9396 DOID:3437 laryngitis MONDO:0004778 epididymo-orchitis MONDO:0004779 DOID:9401 DOID:9402 epididymitis MONDO:0004780 strictly posterior acute myocardial infarction MONDO:0004781 DOID:9407 DOID:9408 acute myocardial infarction MONDO:0004781 acute myocardial infarction MONDO:0005068 DOID:9408 DOID:5844 myocardial infarction MONDO:0004782 diabetes insipidus MONDO:0005240 DOID:9409 DOID:557 kidney disorder MONDO:0004784 allergic asthma MONDO:0000771 DOID:9415 DOID:0060496 allergic respiratory disease MONDO:0004785 blepharitis MONDO:0003382 DOID:9423 DOID:530 eyelid disorder MONDO:0004786 chronic cholangitis MONDO:0004789 DOID:9439 DOID:9446 cholangitis MONDO:0004787 cervical mullerian papilloma MONDO:0000644 DOID:9442 DOID:0060110 cervical benign neoplasm MONDO:0004788 cervix squamous papilloma MONDO:0000644 DOID:9445 DOID:0060110 cervical benign neoplasm MONDO:0004790 fatty liver disease MONDO:0005154 DOID:9452 DOID:409 liver disorder MONDO:0004794 exposure keratitis MONDO:0004768 DOID:9461 DOID:9368 keratoconjunctivitis MONDO:0004795 otitis externa MONDO:0002776 DOID:9463 DOID:379 external ear disorder MONDO:0004797 mononeuritis of lower limb MONDO:0002121 DOID:9473 DOID:1802 mononeuritis simplex MONDO:0004799 ulcerative blepharitis MONDO:0004785 DOID:9483 DOID:9423 blepharitis MONDO:0004800 chronic dacryoadenitis MONDO:0004804 DOID:949 DOID:950 dacryoadenitis MONDO:0004802 pulmonary eosinophilia MONDO:0015691 DOID:9498 DOID:999 hypereosinophilic syndrome MONDO:0004803 disseminated eosinophilic collagen disease MONDO:0015691 DOID:9499 DOID:999 hypereosinophilic syndrome MONDO:0004805 leukocyte disorder MONDO:0005570 DOID:9500 DOID:74 hematologic disorder MONDO:0004806 chronic eosinophilic pneumonia MONDO:0005749 DOID:9502 DOID:5870 eosinophilic pneumonia MONDO:0004810 acute ethmoiditis MONDO:0005756 DOID:9506 DOID:9507 ethmoid sinusitis MONDO:0004811 simple chronic conjunctivitis MONDO:0002314 DOID:9512 DOID:2475 chronic conjunctivitis MONDO:0004812 acute dacryoadenitis MONDO:0004804 DOID:952 DOID:950 dacryoadenitis MONDO:0004813 tuberculous pneumothorax MONDO:0002076 DOID:9534 DOID:1673 pneumothorax MONDO:0004815 osteosclerotic plasma cell myeloma MONDO:0009693 DOID:9541 DOID:9538 plasma cell myeloma MONDO:0004816 refractory plasma cell neoplasm MONDO:0004111 DOID:9544 DOID:712 refractory hematologic cancer MONDO:0004817 non-secretory plasma cell myeloma MONDO:0009693 DOID:9547 DOID:9538 plasma cell myeloma MONDO:0004820 peripheral nerve schwannoma MONDO:0002546 DOID:956 DOID:3192 schwannoma MONDO:0004821 nasopharyngeal disorder MONDO:0004867 DOID:9561 DOID:974 upper respiratory tract disorder MONDO:0004822 bronchiectasis MONDO:0001358 DOID:9563 DOID:1176 bronchial disorder MONDO:0004824 neonatal candidiasis MONDO:0002026 DOID:9577 DOID:1508 candidiasis MONDO:0004826 urethral calculus MONDO:0004184 DOID:9589 DOID:732 urethral disorder MONDO:0004826 urethral calculus MONDO:0004828 DOID:9589 DOID:9590 lower urinary tract calculus MONDO:0004830 fasciitis MONDO:0003900 DOID:9598 DOID:65 connective tissue disorder MONDO:0004831 proliferative fasciitis MONDO:0004830 DOID:9599 DOID:9598 fasciitis MONDO:0004833 plantar fasciitis MONDO:0004830 DOID:9600 DOID:9598 fasciitis MONDO:0004834 ischemic fasciitis MONDO:0004830 DOID:9601 DOID:9598 fasciitis MONDO:0004835 necrotizing fasciitis MONDO:0004830 DOID:9602 DOID:9598 fasciitis MONDO:0004836 intravascular fasciitis MONDO:0004187 DOID:9603 DOID:7327 nodular fasciitis MONDO:0004837 neurofibroma of the esophagus MONDO:0016755 DOID:961 DOID:962 neurofibroma MONDO:0004838 orthostatic proteinuria MONDO:0005240 DOID:9617 DOID:557 kidney disorder MONDO:0004840 non-congenital cyst of kidney MONDO:0002473 DOID:9621 DOID:2975 cystic kidney disease MONDO:0004841 kidney hypertrophy MONDO:0005240 DOID:9622 DOID:557 kidney disorder MONDO:0004843 pathologic nystagmus MONDO:0001584 DOID:9650 DOID:1279 ocular motility disease MONDO:0004845 aphthous stomatitis MONDO:0004842 DOID:9663 DOID:9637 stomatitis MONDO:0004846 placental abruption MONDO:0005917 DOID:9667 DOID:780 placenta disorder MONDO:0004847 senile cataract MONDO:0005129 DOID:9669 DOID:83 cataract MONDO:0004848 ulcerative stomatitis MONDO:0004842 DOID:9673 DOID:9637 stomatitis MONDO:0004849 pulmonary emphysema MONDO:0005002 DOID:9675 DOID:3083 chronic obstructive pulmonary disease MONDO:0004851 toxic myocarditis MONDO:0002815 DOID:9694 DOID:3951 acute myocarditis MONDO:0004853 gonococcal endophthalmia MONDO:0016047 DOID:9698 DOID:4692 endophthalmitis MONDO:0004855 tenosynovitis MONDO:0004857 DOID:970 DOID:971 tendinitis MONDO:0004855 tenosynovitis MONDO:0006816 DOID:970 DOID:381 arthropathy MONDO:0004856 rosacea conjunctivitis MONDO:0003799 DOID:9709 DOID:6195 conjunctivitis MONDO:0004857 tendinitis MONDO:0021167 DOID:971 DOID:633 myositis disease MONDO:0004858 occlusion of gallbladder MONDO:0005281 DOID:9714 DOID:0060262 gallbladder disorder MONDO:0004859 hydrops of gallbladder MONDO:0005281 DOID:9717 DOID:0060262 gallbladder disorder MONDO:0004861 ophthalmia nodosa MONDO:0005328 DOID:9722 DOID:5614 eye disorder MONDO:0004862 vitreous abscess MONDO:0004860 DOID:9723 DOID:9720 vitreous disorder MONDO:0004862 vitreous abscess MONDO:0004863 DOID:9723 DOID:9724 purulent endophthalmitis MONDO:0004863 purulent endophthalmitis MONDO:0016047 DOID:9724 DOID:4692 endophthalmitis MONDO:0004864 acute allergic mucoid otitis media MONDO:0004865 DOID:9735 DOID:9736 blue drum syndrome MONDO:0004865 blue drum syndrome MONDO:0002738 DOID:9736 DOID:3697 acute transudative otitis media MONDO:0004867 upper respiratory tract disorder MONDO:0005087 DOID:974 DOID:1579 respiratory system disorder MONDO:0004868 biliary tract disorder MONDO:0002515 DOID:9741 DOID:3118 hepatobiliary disorder MONDO:0004869 pelvic varices MONDO:0008638 DOID:9742 DOID:799 varicose disease MONDO:0004871 perianal hematoma MONDO:0004872 DOID:9745 DOID:9746 hemorrhoid MONDO:0004872 hemorrhoid MONDO:0004869 DOID:9746 DOID:9742 pelvic varices MONDO:0004873 internal hemorrhoid MONDO:0004872 DOID:9749 DOID:9746 hemorrhoid MONDO:0004874 ganglion or cyst of synovium/tendon/bursa MONDO:0006816 DOID:9754 DOID:381 arthropathy MONDO:0004875 xanthogranulomatous cholecystitis MONDO:0002155 DOID:9766 DOID:1949 cholecystitis MONDO:0004876 myocardial stunning MONDO:0005068 DOID:9767 DOID:5844 myocardial infarction MONDO:0004878 female breast upper-outer quadrant cancer MONDO:0004379 DOID:9773 DOID:0050671 female breast carcinoma MONDO:0004879 senile atrophy of choroid MONDO:0004885 DOID:9776 DOID:980 choroidal sclerosis MONDO:0004880 bowel dysfunction MONDO:0005020 DOID:9779 DOID:5295 intestinal disorder MONDO:0004881 myositis fibrosa MONDO:0021167 DOID:9788 DOID:633 myositis disease MONDO:0004882 angioid streaks of choroid MONDO:0004885 DOID:979 DOID:980 choroidal sclerosis MONDO:0004882 angioid streaks of choroid MONDO:0011782 DOID:979 DOID:13401 angioid streaks MONDO:0004883 hereditary choroidal atrophy MONDO:0004885 DOID:9794 DOID:980 choroidal sclerosis MONDO:0004884 eye degenerative disorder MONDO:0005328 DOID:9799 DOID:5614 eye disorder MONDO:0004885 choroidal sclerosis MONDO:0001898 DOID:980 DOID:1417 optic choroid disorder MONDO:0004885 choroidal sclerosis MONDO:0004884 DOID:980 DOID:9799 eye degenerative disorder MONDO:0004886 diffuse secondary choroid atrophy MONDO:0004885 DOID:981 DOID:980 choroidal sclerosis MONDO:0004888 partial circumpapillary choroid dystrophy MONDO:0004883 DOID:9811 DOID:9794 hereditary choroidal atrophy MONDO:0004891 hyperopia MONDO:0004892 DOID:9834 DOID:9835 refractive error MONDO:0004892 refractive error MONDO:0005328 DOID:9835 DOID:5614 eye disorder MONDO:0004893 hypertropia MONDO:0003432 DOID:9837 DOID:540 strabismus MONDO:0004894 cyclotropia MONDO:0003432 DOID:9838 DOID:540 strabismus MONDO:0004895 accommodative esotropia MONDO:0004896 DOID:9839 DOID:9840 esotropia MONDO:0004896 esotropia MONDO:0003432 DOID:9840 DOID:540 strabismus MONDO:0004897 hypotropia MONDO:0003432 DOID:9841 DOID:540 strabismus MONDO:0004898 total circumpapillary dystrophy of choroid MONDO:0004883 DOID:9842 DOID:9794 hereditary choroidal atrophy MONDO:0004899 monofixation syndrome MONDO:0003432 DOID:9843 DOID:540 strabismus MONDO:0004900 peripheral vertigo MONDO:0002643 DOID:9847 DOID:3426 vestibular disorder MONDO:0004901 lingual-facial-buccal dyskinesia MONDO:0005395 DOID:9854 DOID:480 movement disorder MONDO:0004902 interstitial keratitis MONDO:0003900 DOID:9857 DOID:65 connective tissue disorder MONDO:0004903 deep keratitis MONDO:0003085 DOID:9858 DOID:4677 keratitis MONDO:0004904 toxic maculopathy MONDO:0002175 DOID:9867 DOID:2007 degeneration of macula and posterior pole MONDO:0004909 urethral gland abscess MONDO:0004184 DOID:9877 DOID:732 urethral disorder MONDO:0004910 mitral valve prolapse MONDO:0003767 DOID:988 DOID:61 mitral valve disorder MONDO:0004911 cardiovascular syphilis MONDO:0004497 DOID:9880 DOID:8200 tertiary syphilis MONDO:0004913 alternating esotropia MONDO:0004896 DOID:9888 DOID:9840 esotropia MONDO:0004914 celiac artery stenosis from compression by median arcuate ligament of diaphragm MONDO:0002254 DOID:9892 DOID:225 syndromic disease MONDO:0004917 internal hordeolum MONDO:0005800 DOID:9908 DOID:9909 hordeolum MONDO:0004918 central corneal ulcer MONDO:0004577 DOID:9910 DOID:8463 corneal ulcer MONDO:0004919 infected hydrocele MONDO:0004920 DOID:9911 DOID:9912 hydrocele MONDO:0004920 hydrocele MONDO:0003150 DOID:9912 DOID:48 male reproductive system disorder MONDO:0004922 developmental coordination disorder MONDO:0000592 DOID:9923 DOID:0060038 specific developmental disorder MONDO:0004923 chronic inflammation of lacrimal passage MONDO:0001854 DOID:9935 DOID:1400 lacrimal apparatus disorder MONDO:0004924 chronic canaliculitis MONDO:0004923 DOID:9936 DOID:9935 chronic inflammation of lacrimal passage MONDO:0004925 chronic dacryocystitis MONDO:0004926 DOID:9937 DOID:9938 dacryocystitis MONDO:0004927 dacryocystocele MONDO:0004923 DOID:9939 DOID:9935 chronic inflammation of lacrimal passage MONDO:0004928 lymph node disorder MONDO:0005833 DOID:9942 DOID:75 lymphatic system disorder MONDO:0004929 constant exophthalmos MONDO:0004751 DOID:9945 DOID:930 disease of orbital part of eye adnexa MONDO:0004930 steroid-induced glaucoma MONDO:0005041 DOID:9946 DOID:1686 glaucoma MONDO:0004931 residual stage corticosteroid-induced glaucoma MONDO:0004930 DOID:9948 DOID:9946 steroid-induced glaucoma MONDO:0004932 null-cell leukemia MONDO:0004967 DOID:9954 DOID:9952 acute lymphoblastic leukemia MONDO:0004933 hypoplastic left heart syndrome MONDO:0005453 DOID:9955 DOID:1682 congenital heart disease MONDO:0004934 periostitis MONDO:0003900 DOID:9957 DOID:65 connective tissue disorder MONDO:0004936 uterine inversion MONDO:0002654 DOID:997 DOID:345 uterine disorder MONDO:0004937 hypervitaminosis D MONDO:0003916 DOID:9971 DOID:654 overnutrition MONDO:0004938 substance dependence MONDO:0002494 DOID:9973 DOID:303 substance-related disorder MONDO:0004939 hallucinogen dependence MONDO:0005303 DOID:9977 DOID:9974 drug dependence MONDO:0004940 acute female pelvic peritonitis MONDO:0000922 DOID:9978 DOID:1003 pelvic inflammatory disease MONDO:0004941 eosinophilia-myalgia syndrome MONDO:0015691 DOID:998 DOID:999 hypereosinophilic syndrome MONDO:0004942 orbit lymphoma MONDO:0002889 DOID:9986 DOID:4143 orbital cancer MONDO:0004943 orbit sarcoma MONDO:0002889 DOID:9987 DOID:4143 orbital cancer MONDO:0004943 orbit sarcoma MONDO:0005089 DOID:9987 DOID:1115 sarcoma MONDO:0004944 neurosyphilis MONDO:0004497 DOID:9988 DOID:8200 tertiary syphilis MONDO:0004946 hypoglycemia MONDO:0002908 DOID:9993 DOID:4194 glucose metabolism disease MONDO:0004949 neoplasm of mature B-cells MONDO:0004095 DOID:706 DOID:707 B-cell neoplasm MONDO:0004950 gastric carcinoma MONDO:0001056 DOID:10538 DOID:10534 gastric cancer MONDO:0004950 gastric carcinoma MONDO:0001056 DOID:5517 DOID:10534 gastric cancer MONDO:0004952 Hodgkins lymphoma MONDO:0005062 DOID:8567 DOID:0060058 lymphoma MONDO:0004953 invasive ductal breast carcinoma MONDO:0005590 DOID:3008 DOID:3007 breast ductal adenocarcinoma MONDO:0004957 mucinous adenocarcinoma MONDO:0004970 DOID:3030 DOID:299 adenocarcinoma MONDO:0004959 plasma cell neoplasm MONDO:0004949 DOID:6536 DOID:706 neoplasm of mature B-cells MONDO:0004963 T-cell acute lymphoblastic leukemia MONDO:0004967 DOID:5603 DOID:9952 acute lymphoblastic leukemia MONDO:0004966 gastritis MONDO:0004298 DOID:4029 DOID:76 stomach disorder MONDO:0004967 acute lymphoblastic leukemia MONDO:0010643 DOID:9952 DOID:12603 acute leukemia MONDO:0004970 adenocarcinoma MONDO:0004993 DOID:299 DOID:305 carcinoma MONDO:0004975 Alzheimer disease MONDO:0005574 DOID:10652 DOID:680 tauopathy MONDO:0004976 amyotrophic lateral sclerosis MONDO:0020128 DOID:332 DOID:231 motor neuron disorder MONDO:0004977 angioimmunoblastic T-cell lymphoma MONDO:0000430 DOID:0111147 DOID:0050749 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0004979 asthma MONDO:0001358 DOID:2841 DOID:1176 bronchial disorder MONDO:0004982 pancreatitis MONDO:0002356 DOID:4989 DOID:26 pancreas disorder MONDO:0004983 spermatogenic failure MONDO:0005372 DOID:0111910 DOID:12336 male infertility MONDO:0004985 bipolar disorder MONDO:0005371 DOID:3312 DOID:3324 mood disorder MONDO:0004986 urinary bladder carcinoma MONDO:0001187 DOID:4007 DOID:11054 urinary bladder cancer MONDO:0004986 urinary bladder carcinoma MONDO:0004993 DOID:4007 DOID:305 carcinoma MONDO:0004988 breast adenocarcinoma MONDO:0004970 DOID:3458 DOID:299 adenocarcinoma MONDO:0004988 breast adenocarcinoma MONDO:0004989 DOID:3458 DOID:3459 breast carcinoma MONDO:0004989 breast carcinoma MONDO:0007254 DOID:3459 DOID:1612 breast cancer MONDO:0004991 minimally invasive lung adenocarcinoma MONDO:0005061 DOID:4926 DOID:3910 lung adenocarcinoma MONDO:0004992 cancer MONDO:0005070 DOID:162 DOID:14566 neoplasm MONDO:0004993 carcinoma MONDO:0004992 DOID:305 DOID:0050687 cancer MONDO:0004994 cardiomyopathy MONDO:0005267 DOID:0050700 DOID:114 heart disorder MONDO:0004996 childhood acute myeloid leukemia MONDO:0004355 DOID:0070323 DOID:7757 childhood leukemia MONDO:0004996 childhood acute myeloid leukemia MONDO:0018874 DOID:0070323 DOID:9119 acute myeloid leukemia MONDO:0004997 chondroblastoma MONDO:0000631 DOID:2649 DOID:0060094 bone benign neoplasm MONDO:0005002 chronic obstructive pulmonary disease MONDO:0002267 DOID:3083 DOID:2320 obstructive lung disease MONDO:0005004 clear cell adenocarcinoma MONDO:0004970 DOID:4468 DOID:299 adenocarcinoma MONDO:0005006 clear cell sarcoma of kidney MONDO:0002930 DOID:4880 DOID:4242 kidney sarcoma MONDO:0005007 colon mucinous adenocarcinoma MONDO:0002271 DOID:3029 DOID:234 colon adenocarcinoma MONDO:0005007 colon mucinous adenocarcinoma MONDO:0004957 DOID:3029 DOID:3030 mucinous adenocarcinoma MONDO:0005008 colorectal adenocarcinoma MONDO:0004970 DOID:0050861 DOID:299 adenocarcinoma MONDO:0005008 colorectal adenocarcinoma MONDO:0004970 DOID:0050913 DOID:299 adenocarcinoma MONDO:0005008 colorectal adenocarcinoma MONDO:0024331 DOID:0050861 DOID:0080199 colorectal carcinoma MONDO:0005010 coronary artery disorder MONDO:0000473 DOID:3393 DOID:0050828 arterial disorder MONDO:0005011 Crohn disease MONDO:0005265 DOID:8778 DOID:0050589 inflammatory bowel disease MONDO:0005012 cutaneous melanoma MONDO:0002898 DOID:8923 DOID:4159 skin cancer MONDO:0005012 cutaneous melanoma MONDO:0005105 DOID:8923 DOID:1909 melanoma MONDO:0005015 diabetes mellitus MONDO:0002908 DOID:9351 DOID:4194 glucose metabolism disease MONDO:0005017 diffuse gastric adenocarcinoma MONDO:0005036 DOID:6217 DOID:3717 gastric adenocarcinoma MONDO:0005019 diffuse scleroderma MONDO:0005100 DOID:1580 DOID:418 systemic sclerosis MONDO:0005020 intestinal disorder MONDO:0004335 DOID:5295 DOID:77 digestive system disorder MONDO:0005021 dilated cardiomyopathy MONDO:0000591 DOID:12930 DOID:0060036 intrinsic cardiomyopathy MONDO:0005023 ductal breast carcinoma in situ MONDO:0004658 DOID:0060074 DOID:8791 breast carcinoma in situ MONDO:0005025 endocarditis MONDO:0000470 DOID:10314 DOID:0050825 endocardium disorder MONDO:0005027 epilepsy MONDO:0005560 DOID:1826 DOID:936 brain disorder MONDO:0005028 esophageal adenocarcinoma MONDO:0004970 DOID:4914 DOID:299 adenocarcinoma MONDO:0005028 esophageal adenocarcinoma MONDO:0019086 DOID:4914 DOID:1107 carcinoma of esophagus MONDO:0005029 essential thrombocythemia MONDO:0020076 DOID:2224 DOID:2226 myeloproliferative neoplasm MONDO:0005032 follicular thyroid adenoma MONDO:0004972 DOID:2891 DOID:657 adenoma MONDO:0005034 thyroid gland follicular carcinoma MONDO:0015447 DOID:3962 DOID:0080525 differentiated thyroid carcinoma MONDO:0005036 gastric adenocarcinoma MONDO:0004950 DOID:3717 DOID:5517 gastric carcinoma MONDO:0005036 gastric adenocarcinoma MONDO:0004970 DOID:3717 DOID:299 adenocarcinoma MONDO:0005041 glaucoma MONDO:0005328 DOID:1686 DOID:5614 eye disorder MONDO:0005044 hypertensive disorder MONDO:0000473 DOID:10763 DOID:0050828 arterial disorder MONDO:0005045 hypertrophic cardiomyopathy MONDO:0000591 DOID:11984 DOID:0060036 intrinsic cardiomyopathy MONDO:0005047 infertility disorder MONDO:0005039 DOID:5223 DOID:15 reproductive system disorder MONDO:0005051 invasive lobular breast carcinoma MONDO:0000552 DOID:3457 DOID:0050938 breast lobular carcinoma MONDO:0005052 irritable bowel syndrome MONDO:0005020 DOID:9778 DOID:5295 intestinal disorder MONDO:0005053 ischemic disease MONDO:0005385 DOID:326 DOID:178 vascular disorder MONDO:0005055 Kaposi's sarcoma MONDO:0005108 DOID:8632 DOID:934 viral infectious disease MONDO:0005056 keratinizing squamous cell carcinoma MONDO:0005096 DOID:5521 DOID:1749 squamous cell carcinoma MONDO:0005058 leiomyosarcoma MONDO:0002924 DOID:1967 DOID:4230 smooth muscle cancer MONDO:0005061 lung adenocarcinoma MONDO:0004970 DOID:3910 DOID:299 adenocarcinoma MONDO:0005061 lung adenocarcinoma MONDO:0005233 DOID:3910 DOID:3908 non-small cell lung carcinoma MONDO:0005067 monophasic synovial sarcoma MONDO:0010434 DOID:5495 DOID:5485 synovial sarcoma MONDO:0005074 papillary cystadenocarcinoma MONDO:0005596 DOID:3110 DOID:3111 cystadenocarcinoma MONDO:0005075 thyroid gland papillary carcinoma MONDO:0002512 DOID:3969 DOID:3112 papillary adenocarcinoma MONDO:0005075 thyroid gland papillary carcinoma MONDO:0015447 DOID:3969 DOID:0080525 differentiated thyroid carcinoma MONDO:0005076 periodontitis MONDO:0002635 DOID:824 DOID:3388 periodontal disorder MONDO:0005080 portal hypertension MONDO:0002405 DOID:10762 DOID:272 hepatic vascular disorder MONDO:0005082 prostate adenocarcinoma MONDO:0004970 DOID:2526 DOID:299 adenocarcinoma MONDO:0005082 prostate adenocarcinoma MONDO:0005159 DOID:2526 DOID:10286 prostate carcinoma MONDO:0005086 renal cell carcinoma MONDO:0005206 DOID:4450 DOID:4451 renal carcinoma MONDO:0005089 sarcoma MONDO:0004992 DOID:1115 DOID:0050687 cancer MONDO:0005090 schizophrenia MONDO:0005485 DOID:5419 DOID:2468 psychotic disorder MONDO:0005091 severe acute respiratory syndrome MONDO:0020753 DOID:2945 DOID:0080599 Orthocoronavirinae infectious disease MONDO:0005092 signet ring cell carcinoma MONDO:0004970 DOID:3493 DOID:299 adenocarcinoma MONDO:0005093 skin disorder MONDO:0002051 DOID:37 DOID:16 integumentary system disorder MONDO:0005094 hemangiopericytoma MONDO:0002789 DOID:264 DOID:3850 hemangiopericytic tumor MONDO:0005095 spondyloarthropathy MONDO:0006816 DOID:1123 DOID:381 arthropathy MONDO:0005096 squamous cell carcinoma MONDO:0004993 DOID:1749 DOID:305 carcinoma MONDO:0005097 squamous cell lung carcinoma MONDO:0005096 DOID:3907 DOID:1749 squamous cell carcinoma MONDO:0005100 systemic sclerosis MONDO:0019340 DOID:418 DOID:419 scleroderma MONDO:0005101 ulcerative colitis MONDO:0005292 DOID:8577 DOID:0060180 colitis MONDO:0005108 viral infectious disease MONDO:0005550 DOID:934 DOID:0050117 infectious disease MONDO:0005112 malignant pleural mesothelioma MONDO:0006292 DOID:7474 DOID:1790 malignant mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006294 DOID:7474 DOID:5158 pleural cancer MONDO:0005113 bacterial infectious disease MONDO:0005550 DOID:104 DOID:0050117 infectious disease MONDO:0005116 Whipple disease MONDO:0005020 DOID:8476 DOID:5295 intestinal disorder MONDO:0005119 anthrax infection MONDO:0000314 DOID:7427 DOID:0050338 primary bacterial infectious disease MONDO:0005124 leprosy MONDO:0000314 DOID:1024 DOID:0050338 primary bacterial infectious disease MONDO:0005125 borderline leprosy MONDO:0005124 DOID:1023 DOID:1024 leprosy MONDO:0005126 tuberculoid leprosy MONDO:0005124 DOID:1025 DOID:1024 leprosy MONDO:0005127 lepromatous leprosy MONDO:0005124 DOID:10887 DOID:1024 leprosy MONDO:0005129 cataract MONDO:0001176 DOID:83 DOID:110 lens disorder MONDO:0005130 celiac disease MONDO:0000588 DOID:10608 DOID:0060031 autoimmune disorder of gastrointestinal tract MONDO:0005131 cervical carcinoma MONDO:0002974 DOID:2893 DOID:4362 cervical cancer MONDO:0005135 parasitic infectious disease MONDO:0005550 DOID:1398 DOID:0050117 infectious disease MONDO:0005136 malaria MONDO:0002428 DOID:12365 DOID:2789 protozoa infectious disease MONDO:0005138 lung carcinoma MONDO:0004993 DOID:3905 DOID:305 carcinoma MONDO:0005138 lung carcinoma MONDO:0008903 DOID:3905 DOID:1324 lung cancer MONDO:0005139 morbid obesity MONDO:0011122 DOID:11981 DOID:9970 obesity disorder MONDO:0005140 ovarian carcinoma MONDO:0018364 DOID:4001 DOID:2151 malignant epithelial tumor of ovary MONDO:0005145 sporadic amyotrophic lateral sclerosis MONDO:0004976 DOID:0080917 DOID:332 amyotrophic lateral sclerosis MONDO:0005147 type 1 diabetes mellitus MONDO:0000569 DOID:9744 DOID:0060005 autoimmune disorder of endocrine system MONDO:0005147 type 1 diabetes mellitus MONDO:0005015 DOID:9744 DOID:9351 diabetes mellitus MONDO:0005148 type 2 diabetes mellitus MONDO:0005015 DOID:9352 DOID:9351 diabetes mellitus MONDO:0005149 pulmonary hypertension MONDO:0005044 DOID:6432 DOID:10763 hypertensive disorder MONDO:0005150 age-related macular degeneration MONDO:0002175 DOID:10871 DOID:2007 degeneration of macula and posterior pole MONDO:0005152 hypopituitarism MONDO:0003381 DOID:9406 DOID:53 pituitary gland disorder MONDO:0005153 cervical adenocarcinoma MONDO:0004970 DOID:3702 DOID:299 adenocarcinoma MONDO:0005153 cervical adenocarcinoma MONDO:0005131 DOID:3702 DOID:2893 cervical carcinoma MONDO:0005154 liver disorder MONDO:0002515 DOID:409 DOID:3118 hepatobiliary disorder MONDO:0005155 cirrhosis of liver MONDO:0005154 DOID:5082 DOID:409 liver disorder MONDO:0005156 encephalomyelitis MONDO:0002602 DOID:640 DOID:331 central nervous system disorder MONDO:0005159 prostate carcinoma MONDO:0004993 DOID:10286 DOID:305 carcinoma MONDO:0005159 prostate carcinoma MONDO:0008315 DOID:10286 DOID:10283 prostate cancer MONDO:0005160 aortic aneurysm MONDO:0005561 DOID:3627 DOID:520 aortic disorder MONDO:0005165 benign neoplasm MONDO:0005070 DOID:0060072 DOID:14566 neoplasm MONDO:0005173 actinic keratosis MONDO:0000611 DOID:8866 DOID:0060071 pre-malignant neoplasm MONDO:0005178 osteoarthritis MONDO:0005578 DOID:8398 DOID:848 arthritic joint disease MONDO:0005181 progressive external ophthalmoplegia MONDO:0009637 DOID:12558 DOID:699 inborn mitochondrial myopathy MONDO:0005184 pancreatic ductal adenocarcinoma MONDO:0006047 DOID:3498 DOID:4074 pancreatic adenocarcinoma MONDO:0005186 cocaine dependence MONDO:0005303 DOID:9975 DOID:9974 drug dependence MONDO:0005192 exocrine pancreatic carcinoma MONDO:0002116 DOID:4905 DOID:1795 malignant exocrine pancreas neoplasm MONDO:0005201 restrictive cardiomyopathy MONDO:0000591 DOID:397 DOID:0060036 intrinsic cardiomyopathy MONDO:0005206 renal carcinoma MONDO:0002367 DOID:4451 DOID:263 kidney cancer MONDO:0005206 renal carcinoma MONDO:0004993 DOID:4451 DOID:305 carcinoma MONDO:0005208 amelanotic skin melanoma MONDO:0005012 DOID:10054 DOID:8923 cutaneous melanoma MONDO:0005210 uterine corpus sarcoma MONDO:0005089 DOID:5165 DOID:1115 sarcoma MONDO:0005210 uterine corpus sarcoma MONDO:0006003 DOID:5165 DOID:9460 uterine corpus cancer MONDO:0005211 ovarian serous adenocarcinoma MONDO:0002752 DOID:5744 DOID:3713 ovarian adenocarcinoma MONDO:0005214 vulva sarcoma MONDO:0001528 DOID:2096 DOID:1245 vulva cancer MONDO:0005215 vulvar carcinoma MONDO:0001528 DOID:1294 DOID:1245 vulva cancer MONDO:0005215 vulvar carcinoma MONDO:0004993 DOID:1294 DOID:305 carcinoma MONDO:0005220 collecting duct carcinoma MONDO:0005086 DOID:4464 DOID:4450 renal cell carcinoma MONDO:0005221 renal pelvis urothelial carcinoma MONDO:0005519 DOID:5974 DOID:4919 renal pelvis carcinoma MONDO:0005229 bacterial infectious disease with sepsis MONDO:0005113 DOID:0040085 DOID:104 bacterial infectious disease MONDO:0005232 large cell carcinoma MONDO:0004993 DOID:4552 DOID:305 carcinoma MONDO:0005233 non-small cell lung carcinoma MONDO:0005138 DOID:3908 DOID:3905 lung carcinoma MONDO:0005235 smoldering plasma cell myeloma MONDO:0009693 DOID:9551 DOID:9538 plasma cell myeloma MONDO:0005240 kidney disorder MONDO:0002118 DOID:557 DOID:18 urinary system disorder MONDO:0005244 peripheral neuropathy MONDO:0003620 DOID:870 DOID:574 peripheral nervous system disorder MONDO:0005246 osteomyelitis MONDO:0002614 DOID:1019 DOID:3342 bone inflammation disease MONDO:0005258 autism spectrum disorder MONDO:0000594 DOID:0060041 DOID:0060040 pervasive developmental disorder MONDO:0005259 Asperger syndrome MONDO:0005258 DOID:0050432 DOID:0060041 autism spectrum disorder MONDO:0005260 autism MONDO:0005258 DOID:12849 DOID:0060041 autism spectrum disorder MONDO:0005264 transient ischemic attack MONDO:0005299 DOID:224 DOID:2316 brain ischemia MONDO:0005265 inflammatory bowel disease MONDO:0005020 DOID:0050589 DOID:5295 intestinal disorder MONDO:0005266 diabetic retinopathy MONDO:0002311 DOID:8947 DOID:2462 retinal vascular disorder MONDO:0005267 heart disorder MONDO:0004995 DOID:114 DOID:1287 cardiovascular disorder MONDO:0005269 carotid artery disorder MONDO:0000473 DOID:3407 DOID:0050828 arterial disorder MONDO:0005269 carotid artery disorder MONDO:0011057 DOID:3407 DOID:6713 cerebrovascular disorder MONDO:0005275 lung disorder MONDO:0000270 DOID:850 DOID:0050161 lower respiratory tract disorder MONDO:0005276 dental caries MONDO:0002220 DOID:216 DOID:214 tooth hard tissue disease MONDO:0005277 migraine disorder MONDO:0005560 DOID:6364 DOID:936 brain disorder MONDO:0005280 prostatitis MONDO:0003105 DOID:14654 DOID:47 prostate disorder MONDO:0005282 cutaneous lupus erythematosus MONDO:0004670 DOID:0050169 DOID:8857 lupus erythematosus MONDO:0005283 retinal disorder MONDO:0005328 DOID:5679 DOID:5614 eye disorder MONDO:0005289 paranasal sinus neoplasm MONDO:0001735 DOID:1350 DOID:1352 paranasal sinus disorder MONDO:0005291 brain aneurysm MONDO:0006693 DOID:10941 DOID:3527 cerebral arterial disease MONDO:0005292 colitis MONDO:0005265 DOID:0060180 DOID:0050589 inflammatory bowel disease MONDO:0005294 peripheral vascular disease MONDO:0005385 DOID:341 DOID:178 vascular disorder MONDO:0005295 intermittent vascular claudication MONDO:0002277 DOID:3669 DOID:2349 arteriosclerosis disorder MONDO:0005296 sleep apnea syndrome MONDO:0003406 DOID:0050847 DOID:535 sleep-wake disorder MONDO:0005297 urethritis MONDO:0004184 DOID:1343 DOID:732 urethral disorder MONDO:0005298 osteoporosis MONDO:0000837 DOID:11476 DOID:0080011 bone resorption disease MONDO:0005299 brain ischemia MONDO:0005053 DOID:2316 DOID:326 ischemic disease MONDO:0005299 brain ischemia MONDO:0011057 DOID:2316 DOID:6713 cerebrovascular disorder MONDO:0005301 multiple sclerosis MONDO:0000568 DOID:2377 DOID:0060004 autoimmune disorder of central nervous system MONDO:0005303 drug dependence MONDO:0004938 DOID:9974 DOID:9973 substance dependence MONDO:0005304 biliary tract neoplasm MONDO:0004868 DOID:0050625 DOID:9741 biliary tract disorder MONDO:0005311 atherosclerosis MONDO:0002277 DOID:1936 DOID:2348 arteriosclerosis disorder MONDO:0005314 relapsing-remitting multiple sclerosis MONDO:0005301 DOID:2378 DOID:2377 multiple sclerosis MONDO:0005321 Fuchs' endothelial dystrophy MONDO:0000766 DOID:11555 DOID:0060443 corneal endothelial dystrophy MONDO:0005333 hyperthyroxinemia MONDO:0003240 DOID:2855 DOID:50 thyroid gland disorder MONDO:0005338 open-angle glaucoma MONDO:0005041 DOID:1067 DOID:1686 glaucoma MONDO:0005342 IgA glomerulonephritis MONDO:0002462 DOID:2986 DOID:2921 glomerulonephritis MONDO:0005349 otosclerosis MONDO:0002467 DOID:12185 DOID:2952 inner ear disorder MONDO:0005350 abdominal aortic aneurysm MONDO:0005160 DOID:7693 DOID:3627 aortic aneurysm MONDO:0005351 anorexia nervosa MONDO:0005451 DOID:8689 DOID:8670 eating disorder MONDO:0005352 conduct disorder MONDO:0000592 DOID:12995 DOID:0060038 specific developmental disorder MONDO:0005355 coronary restenosis MONDO:0006715 DOID:4247 DOID:4248 coronary stenosis MONDO:0005356 coronary vasospasm MONDO:0005010 DOID:11840 DOID:3393 coronary artery disorder MONDO:0005357 Creutzfeldt Jacob disease MONDO:0005429 DOID:11949 DOID:649 prion disease MONDO:0005358 Dengue hemorrhagic fever MONDO:0005502 DOID:12206 DOID:12205 dengue disease MONDO:0005361 eosinophilic esophagitis MONDO:0001409 DOID:13922 DOID:11963 esophagitis MONDO:0005362 erectile dysfunction MONDO:0002134 DOID:1875 DOID:1876 physiological sexual disorder MONDO:0005367 heroin dependence MONDO:0005530 DOID:9976 DOID:2559 opiate dependence MONDO:0005372 male infertility MONDO:0003150 DOID:12336 DOID:48 male reproductive system disorder MONDO:0005374 bone marrow neoplasm MONDO:0002334 DOID:4960 DOID:2531 hematopoietic and lymphoid system neoplasm MONDO:0005374 bone marrow neoplasm MONDO:0003225 DOID:4960 DOID:4961 bone marrow disorder MONDO:0005376 membranous glomerulonephritis MONDO:0002462 DOID:10976 DOID:2921 glomerulonephritis MONDO:0005377 nephrotic syndrome MONDO:0002331 DOID:1184 DOID:2527 nephrosis MONDO:0005379 neurotic disorder MONDO:0005618 DOID:4964 DOID:2030 anxiety disorder MONDO:0005380 osteonecrosis MONDO:0005381 DOID:0080008 DOID:0080001 bone disorder MONDO:0005382 bone Paget disease MONDO:0002185 DOID:5408 DOID:205 hyperostosis MONDO:0005383 panic disorder MONDO:0005618 DOID:594 DOID:2030 anxiety disorder MONDO:0005384 focal epilepsy MONDO:0005027 DOID:2234 DOID:1826 epilepsy MONDO:0005385 vascular disorder MONDO:0004995 DOID:178 DOID:1287 cardiovascular disorder MONDO:0005386 peripheral arterial disease MONDO:0000473 DOID:0050830 DOID:0050828 arterial disorder MONDO:0005392 scoliosis MONDO:0000836 DOID:0060249 DOID:0080010 disease of bone structure MONDO:0005394 brain infarction MONDO:0011057 DOID:3454 DOID:6713 cerebrovascular disorder MONDO:0005396 thoracic aortic aneurysm MONDO:0005160 DOID:14004 DOID:3627 aortic aneurysm MONDO:0005397 goiter MONDO:0003240 DOID:12176 DOID:50 thyroid gland disorder MONDO:0005402 lymphoid leukemia MONDO:0005059 DOID:1037 DOID:1240 leukemia MONDO:0005404 myalgic encephalomeyelitis/chronic fatigue syndrome MONDO:0002254 DOID:8544 DOID:225 syndromic disease MONDO:0005406 gestational diabetes MONDO:0005015 DOID:11714 DOID:9351 diabetes mellitus MONDO:0005412 duodenal ulcer MONDO:0004247 DOID:1724 DOID:750 peptic ulcer disease MONDO:0005420 hypothyroidism MONDO:0003240 DOID:1459 DOID:50 thyroid gland disorder MONDO:0005424 elephantiasis MONDO:0019297 DOID:4976 DOID:4977 lymphedema MONDO:0005425 podoconiosis MONDO:0005424 DOID:0050138 DOID:4976 elephantiasis MONDO:0005429 prion disease MONDO:0005560 DOID:649 DOID:936 brain disorder MONDO:0005439 familial hypercholesterolemia MONDO:0001336 DOID:13810 DOID:1168 familial hyperlipidemia MONDO:0005441 otitis media MONDO:0003276 DOID:10754 DOID:5100 middle ear disorder MONDO:0005445 visceral leishmaniasis MONDO:0011989 DOID:9146 DOID:9065 leishmaniasis MONDO:0005446 cutaneous leishmaniasis MONDO:0011989 DOID:9111 DOID:9065 leishmaniasis MONDO:0005447 testicular cancer MONDO:0005836 DOID:2998 DOID:3856 male reproductive organ cancer MONDO:0005452 bulimia nervosa MONDO:0005451 DOID:12129 DOID:8670 eating disorder MONDO:0005453 congenital heart disease MONDO:0005267 DOID:1682 DOID:114 heart disorder MONDO:0005459 human African trypanosomiasis MONDO:0000940 DOID:10112 DOID:10113 trypanosomiasis MONDO:0005460 swine influenza MONDO:0005812 DOID:0050211 DOID:8469 influenza MONDO:0005461 endometrium adenocarcinoma MONDO:0002447 DOID:2870 DOID:2871 endometrial carcinoma MONDO:0005461 endometrium adenocarcinoma MONDO:0004970 DOID:2870 DOID:299 adenocarcinoma MONDO:0005475 migraine with aura MONDO:0005277 DOID:10024 DOID:6364 migraine disorder MONDO:0005480 contact dermatitis MONDO:0002406 DOID:2773 DOID:2723 dermatitis MONDO:0005485 psychotic disorder MONDO:0002039 DOID:2468 DOID:1561 cognitive disorder MONDO:0005486 tooth agenesis MONDO:0006999 DOID:0050591 DOID:1091 tooth disorder MONDO:0005487 schizoaffective disorder MONDO:0005485 DOID:5418 DOID:2468 psychotic disorder MONDO:0005489 dyslexia MONDO:0001697 DOID:4428 DOID:13365 reading disorder MONDO:0005495 adrenal gland disorder MONDO:0005151 DOID:9553 DOID:28 endocrine system disorder MONDO:0005496 bile duct carcinoma MONDO:0003059 DOID:4897 DOID:4606 bile duct cancer MONDO:0005497 bone development disease MONDO:0005381 DOID:0080006 DOID:0080001 bone disorder MONDO:0005498 botulism MONDO:0000314 DOID:11976 DOID:0050338 primary bacterial infectious disease MONDO:0005499 brain glioma MONDO:0001657 DOID:0060108 DOID:1319 brain cancer MONDO:0005500 congenital disorder of glycosylation type I MONDO:0015286 DOID:0050570 DOID:5212 congenital disorder of glycosylation MONDO:0005501 congenital disorder of glycosylation type II MONDO:0015286 DOID:0050571 DOID:5212 congenital disorder of glycosylation MONDO:0005504 diphtheria MONDO:0000314 DOID:11405 DOID:0050338 primary bacterial infectious disease MONDO:0005506 eccrine sweat gland cancer MONDO:0002206 DOID:4921 DOID:2095 sweat gland cancer MONDO:0005507 gingival cancer MONDO:0005515 DOID:8602 DOID:8618 oral cavity cancer MONDO:0005508 hereditary multiple osteochondromas MONDO:0002181 DOID:206 DOID:203 exostosis MONDO:0005511 janus kinase-3 deficiency MONDO:0015974 DOID:0060008 DOID:627 severe combined immunodeficiency MONDO:0005512 malignant peritoneal mesothelioma MONDO:0002087 DOID:1788 DOID:1725 peritoneum cancer MONDO:0005512 malignant peritoneal mesothelioma MONDO:0006292 DOID:1788 DOID:1790 malignant mesothelioma MONDO:0005514 nanophthalmia MONDO:0021129 DOID:0080634 DOID:10629 microphthalmia MONDO:0005515 oral cavity cancer MONDO:0002516 DOID:8618 DOID:3119 digestive system cancer MONDO:0005516 osteochondrodysplasia MONDO:0005497 DOID:2256 DOID:0080006 bone development disease MONDO:0005517 pharynx cancer MONDO:0002516 DOID:0060119 DOID:3119 digestive system cancer MONDO:0005520 rickets MONDO:0000833 DOID:10609 DOID:0080005 bone remodeling disease MONDO:0005522 small intestine carcinoma MONDO:0000956 DOID:4907 DOID:10154 small intestine cancer MONDO:0005523 steroid inherited metabolic disorder MONDO:0002525 DOID:1701 DOID:3146 inherited lipid metabolism disorder MONDO:0005524 sweat gland carcinoma MONDO:0002206 DOID:5667 DOID:2095 sweat gland cancer MONDO:0005526 tetanus MONDO:0000314 DOID:11338 DOID:0050338 primary bacterial infectious disease MONDO:0005527 toxic encephalopathy MONDO:0005071 DOID:3602 DOID:863 nervous system disorder MONDO:0005528 inborn vitamin metabolic disorder MONDO:0019052 DOID:0050718 DOID:655 inborn errors of metabolism MONDO:0005530 opiate dependence MONDO:0005303 DOID:2559 DOID:9974 drug dependence MONDO:0005531 morphine dependence MONDO:0005530 DOID:2560 DOID:2559 opiate dependence MONDO:0005532 Crohn's colitis MONDO:0005011 DOID:0060192 DOID:8778 Crohn disease MONDO:0005541 spondylolysis MONDO:0000836 DOID:2300 DOID:0080010 disease of bone structure MONDO:0005546 fibromyalgia MONDO:0002254 DOID:631 DOID:225 syndromic disease MONDO:0005554 rheumatic disorder MONDO:0003900 DOID:1575 DOID:65 connective tissue disorder MONDO:0005555 cycloplegia MONDO:0000926 DOID:10033 DOID:10034 eye accommodation disease MONDO:0005556 lupus nephritis MONDO:0002462 DOID:0080162 DOID:2921 glomerulonephritis MONDO:0005558 ovarian disorder MONDO:0002259 DOID:1100 DOID:2277 gonadal disorder MONDO:0005558 ovarian disorder MONDO:0002263 DOID:1100 DOID:229 female reproductive system disorder MONDO:0005559 neurodegenerative disease MONDO:0002602 DOID:1289 DOID:331 central nervous system disorder MONDO:0005560 brain disorder MONDO:0002602 DOID:936 DOID:331 central nervous system disorder MONDO:0005561 aortic disorder MONDO:0000473 DOID:520 DOID:0050828 arterial disorder MONDO:0005565 blastoma MONDO:0004992 DOID:0070003 DOID:0050687 cancer MONDO:0005565 blastoma MONDO:0005564 DOID:4766 DOID:688 embryonal neoplasm MONDO:0005566 neonatal abstinence syndrome MONDO:0005567 DOID:9828 DOID:0060001 substance withdrawal syndrome MONDO:0005567 substance withdrawal syndrome MONDO:0002494 DOID:0060001 DOID:303 substance-related disorder MONDO:0005568 cholesterol embolism MONDO:0005385 DOID:1461 DOID:178 vascular disorder MONDO:0005571 polycythemia MONDO:0003225 DOID:8432 DOID:4961 bone marrow disorder MONDO:0005574 tauopathy MONDO:0005559 DOID:680 DOID:1289 neurodegenerative disease MONDO:0005575 colorectal cancer MONDO:0005814 DOID:5672 DOID:10155 intestinal cancer MONDO:0005576 cryoglobulinemia MONDO:0002459 DOID:2917 DOID:2916 type IV hypersensitivity disease MONDO:0005578 arthritic joint disease MONDO:0002614 DOID:848 DOID:3342 bone inflammation disease MONDO:0005580 esophageal squamous cell carcinoma MONDO:0005096 DOID:3748 DOID:1749 squamous cell carcinoma MONDO:0005580 esophageal squamous cell carcinoma MONDO:0019086 DOID:3748 DOID:1107 carcinoma of esophagus MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0002358 DOID:2876 DOID:2600 laryngeal carcinoma MONDO:0005599 malignant epithelioid mesothelioma MONDO:0006292 DOID:4489 DOID:1790 malignant mesothelioma MONDO:0005601 ovarian mucinous adenocarcinoma MONDO:0002752 DOID:3606 DOID:3713 ovarian adenocarcinoma MONDO:0005601 ovarian mucinous adenocarcinoma MONDO:0004957 DOID:3606 DOID:3030 mucinous adenocarcinoma MONDO:0005602 ovarian teratoma MONDO:0011366 DOID:5567 DOID:2156 ovarian germ cell tumor MONDO:0005605 transitional cell papilloma MONDO:0002363 DOID:2670 DOID:2615 papilloma MONDO:0005606 tubular adenocarcinoma MONDO:0004970 DOID:4929 DOID:299 adenocarcinoma MONDO:0005611 bladder transitional cell carcinoma MONDO:0004986 DOID:4006 DOID:4007 urinary bladder carcinoma MONDO:0005615 plasmacytoma MONDO:0004959 DOID:3721 DOID:6536 plasma cell neoplasm MONDO:0005625 cerebral malaria MONDO:0005136 DOID:14069 DOID:12365 malaria MONDO:0005627 head and neck cancer MONDO:0004992 DOID:11934 DOID:0050686 cancer MONDO:0005631 actinomycosis MONDO:0000315 DOID:8478 DOID:0050339 commensal bacterial infectious disease MONDO:0005632 acute chest syndrome MONDO:0005275 DOID:1584 DOID:850 lung disorder MONDO:0005640 akinetic mutism MONDO:0005560 DOID:4267 DOID:936 brain disorder MONDO:0005642 atopic conjunctivitis MONDO:0002314 DOID:11204 DOID:2475 chronic conjunctivitis MONDO:0005644 amebiasis MONDO:0002428 DOID:9181 DOID:2789 protozoa infectious disease MONDO:0005648 aortic valve insufficiency MONDO:0003803 DOID:57 DOID:62 aortic valve disorder MONDO:0005649 appendicitis MONDO:0056798 DOID:8337 DOID:60000 disorder of appendix MONDO:0005657 aspergillosis MONDO:0002312 DOID:13564 DOID:2473 opportunistic mycosis MONDO:0005659 atrophic rhinitis MONDO:0003014 DOID:4731 DOID:4483 rhinitis MONDO:0005661 babesiosis MONDO:0002428 DOID:9643 DOID:2789 protozoa infectious disease MONDO:0005662 balantidiasis MONDO:0002428 DOID:12386 DOID:2789 protozoa infectious disease MONDO:0005663 Barre-Lieou syndrome MONDO:0002254 DOID:6692 DOID:225 syndromic disease MONDO:0005664 bartonellosis MONDO:0000314 DOID:11102 DOID:0050338 primary bacterial infectious disease MONDO:0005665 Bell's palsy MONDO:0001835 DOID:12506 DOID:13934 facial paralysis MONDO:0005667 biliary dyskinesia MONDO:0005281 DOID:4140 DOID:0060262 gallbladder disorder MONDO:0005668 bird fancier's lung MONDO:0017853 DOID:13891 DOID:841 hypersensitivity pneumonitis MONDO:0005670 blackwater fever MONDO:0005136 DOID:14068 DOID:12365 malaria MONDO:0005672 blastomycosis MONDO:0000308 DOID:12663 DOID:0050292 primary systemic mycosis MONDO:0005680 Brill-Zinsser disease MONDO:0019362 DOID:11254 DOID:0050480 epidemic louse-borne typhus MONDO:0005682 bronchopneumonia MONDO:0005249 DOID:12375 DOID:552 pneumonia MONDO:0005683 brucellosis MONDO:0000314 DOID:11077 DOID:0050338 primary bacterial infectious disease MONDO:0005684 bulbar polio MONDO:0000341 DOID:9786 DOID:0050515 paralytic poliomyelitis MONDO:0005688 campylobacteriosis MONDO:0002269 DOID:13622 DOID:2326 gastroenteritis MONDO:0005690 Caplan syndrome MONDO:0015926 DOID:10326 DOID:10316 pneumoconiosis MONDO:0005692 cat-scratch disease MONDO:0005664 DOID:11258 DOID:11102 bartonellosis MONDO:0005693 cauda equina syndrome MONDO:0002254 DOID:11577 DOID:225 syndromic disease MONDO:0005693 cauda equina syndrome MONDO:0003620 DOID:11577 DOID:574 peripheral nervous system disorder MONDO:0005694 cecal neoplasm MONDO:0002031 DOID:1517 DOID:1518 cecal disorder MONDO:0005696 central nervous system tuberculosis MONDO:0000368 DOID:1638 DOID:0050598 extrapulmonary tuberculosis MONDO:0005698 cervical incompetence MONDO:0002256 DOID:9681 DOID:2253 cervix disorder MONDO:0005701 chlamydia trachomatis infectious disease MONDO:0000315 DOID:11263 DOID:0050339 commensal bacterial infectious disease MONDO:0005705 clonorchiasis MONDO:0004664 DOID:13767 DOID:883 helminthiasis MONDO:0005706 coccidioidomycosis MONDO:0000308 DOID:13450 DOID:0050292 primary systemic mycosis MONDO:0005707 coccidiosis MONDO:0002428 DOID:2113 DOID:2789 protozoa infectious disease MONDO:0005711 congenital diaphragmatic hernia MONDO:0005728 DOID:3827 DOID:10481 diaphragm disorder MONDO:0005712 congenital nystagmus MONDO:0004843 DOID:9649 DOID:9650 pathologic nystagmus MONDO:0005714 congenital syphilis MONDO:0005976 DOID:9856 DOID:4166 syphilis MONDO:0005715 congenital toxoplasmosis MONDO:0005989 DOID:13336 DOID:9965 toxoplasmosis MONDO:0005717 contagious pustular dermatitis MONDO:0005108 DOID:8771 DOID:934 viral infectious disease MONDO:0005723 Cryptococcal meningitis MONDO:0006764 DOID:0080159 DOID:11608 fungal meningitis MONDO:0005724 cryptococcosis MONDO:0002312 DOID:12053 DOID:2473 opportunistic mycosis MONDO:0005725 cyclosporiasis MONDO:0005707 DOID:12750 DOID:2113 coccidiosis MONDO:0005729 dicrocoeliasis MONDO:0004664 DOID:1219 DOID:883 helminthiasis MONDO:0005731 dipetalonemiasis MONDO:0016075 DOID:14422 DOID:1080 filariasis MONDO:0005739 echinostomiasis MONDO:0004664 DOID:1218 DOID:883 helminthiasis MONDO:0005742 emphysematous cholecystitis MONDO:0002155 DOID:9765 DOID:1949 cholecystitis MONDO:0005743 encephalitozoonosis MONDO:0005846 DOID:4270 DOID:4271 microsporidiosis MONDO:0005749 eosinophilic pneumonia MONDO:0005249 DOID:5870 DOID:552 pneumonia MONDO:0005751 epidemic pleurodynia MONDO:0005108 DOID:10882 DOID:934 viral infectious disease MONDO:0005753 epiglottitis MONDO:0004867 DOID:9398 DOID:974 upper respiratory tract disorder MONDO:0005756 ethmoid sinusitis MONDO:0005961 DOID:9507 DOID:0050127 sinusitis MONDO:0005757 eumycotic mycetoma MONDO:0002040 DOID:13078 DOID:1563 dermatomycosis MONDO:0005758 eunuchism MONDO:0002146 DOID:5003 DOID:1924 hypogonadism MONDO:0005759 fascioloidiasis MONDO:0004664 DOID:1217 DOID:883 helminthiasis MONDO:0005761 filarial elephantiasis MONDO:0016075 DOID:12211 DOID:1080 filariasis MONDO:0005764 follicular dendritic cell sarcoma MONDO:0004380 DOID:6262 DOID:7849 dendritic cell sarcoma MONDO:0005767 gas gangrene MONDO:0000315 DOID:9159 DOID:0050339 commensal bacterial infectious disease MONDO:0005770 genital herpes MONDO:0004609 DOID:8704 DOID:8566 herpes simplex infectious disease MONDO:0005771 geographic tongue MONDO:0001989 DOID:1455 DOID:1453 atrophic glossitis MONDO:0005772 geotrichosis MONDO:0002312 DOID:2832 DOID:2473 opportunistic mycosis MONDO:0005773 Gerstmann syndrome MONDO:0005071 DOID:4969 DOID:863 nervous system disorder MONDO:0005774 glanders MONDO:0000314 DOID:13444 DOID:0050338 primary bacterial infectious disease MONDO:0005775 G6PD deficiency MONDO:0019214 DOID:2862 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0005776 gnathomiasis MONDO:0004664 DOID:11379 DOID:883 helminthiasis MONDO:0005777 granuloma inguinale MONDO:0000314 DOID:9113 DOID:0050338 primary bacterial infectious disease MONDO:0005778 haemonchiasis MONDO:0005994 DOID:3332 DOID:1255 trichostrongyloidiasis MONDO:0005783 hemopericardium MONDO:0001370 DOID:11482 DOID:118 pericardial effusion MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome MONDO:0005240 DOID:11266 DOID:557 kidney disorder MONDO:0005787 hepatic tuberculosis MONDO:0005768 DOID:407 DOID:404 gastrointestinal tuberculosis MONDO:0005791 herpangina MONDO:0005108 DOID:10883 DOID:934 viral infectious disease MONDO:0005802 hymenolepiasis MONDO:0004664 DOID:10074 DOID:883 helminthiasis MONDO:0005805 hypodermyiasis MONDO:0019147 DOID:12926 DOID:11080 myiasis MONDO:0005806 hypopharynx cancer MONDO:0005517 DOID:8533 DOID:0060119 pharynx cancer MONDO:0005807 idiopathic CD4-positive T-lymphocytopenia MONDO:0003783 DOID:3109 DOID:614 lymphopenia MONDO:0005810 infectious mononucleosis MONDO:0005111 DOID:8568 DOID:2938 Epstein-Barr virus infection MONDO:0005814 intestinal cancer MONDO:0002516 DOID:10155 DOID:3119 digestive system cancer MONDO:0005817 Kluver-Bucy syndrome MONDO:0001162 DOID:2510 DOID:10937 impulse control disorder MONDO:0005819 laryngeal tuberculosis MONDO:0002647 DOID:1583 DOID:3437 laryngitis MONDO:0005821 late congenital syphilis MONDO:0005714 DOID:10039 DOID:9856 congenital syphilis MONDO:0005822 latent syphilis MONDO:0005976 DOID:9531 DOID:4166 syphilis MONDO:0005823 legionellosis MONDO:0000314 DOID:10458 DOID:0050338 primary bacterial infectious disease MONDO:0005824 Legionnaires' disease MONDO:0005823 DOID:10457 DOID:10458 legionellosis MONDO:0005825 leptospirosis MONDO:0000314 DOID:2297 DOID:0050338 primary bacterial infectious disease MONDO:0005826 lipid pneumonia MONDO:0002572 DOID:3241 DOID:3240 aspiration pneumonitis MONDO:0005827 lipoatrophic diabetes MONDO:0005148 DOID:11712 DOID:9352 type 2 diabetes mellitus MONDO:0005828 listeriosis MONDO:0000314 DOID:11573 DOID:0050338 primary bacterial infectious disease MONDO:0005831 lymph node tuberculosis MONDO:0000368 DOID:4889 DOID:0050598 extrapulmonary tuberculosis MONDO:0005831 lymph node tuberculosis MONDO:0004928 DOID:4889 DOID:9942 lymph node disorder MONDO:0005832 lymphangitis MONDO:0005833 DOID:9317 DOID:75 lymphatic system disorder MONDO:0005834 lymphogranuloma venereum MONDO:0005777 DOID:13819 DOID:9113 granuloma inguinale MONDO:0005835 Lynch syndrome MONDO:0000426 DOID:3883 DOID:0050736 autosomal dominant disease MONDO:0005836 male reproductive organ cancer MONDO:0002149 DOID:3856 DOID:193 reproductive system cancer MONDO:0005837 mandibular cancer MONDO:0002131 DOID:2338 DOID:1862 jaw cancer MONDO:0005838 mansonelliasis MONDO:0016075 DOID:1081 DOID:1080 filariasis MONDO:0005842 maxillary sinusitis MONDO:0005961 DOID:2051 DOID:0050127 sinusitis MONDO:0005843 mediastinal cancer MONDO:0003274 DOID:5559 DOID:5093 thoracic cancer MONDO:0005846 microsporidiosis MONDO:0002312 DOID:4271 DOID:2473 opportunistic mycosis MONDO:0005847 middle lobe syndrome MONDO:0005275 DOID:2810 DOID:850 lung disorder MONDO:0005848 miliary tuberculosis MONDO:0000368 DOID:9861 DOID:0050598 extrapulmonary tuberculosis MONDO:0005850 milker's nodule MONDO:0005108 DOID:8729 DOID:934 viral infectious disease MONDO:0005852 mitral valve stenosis MONDO:0003767 DOID:1754 DOID:61 mitral valve disorder MONDO:0005853 malignant mixed neoplasm MONDO:0004992 DOID:154 DOID:0050687 cancer MONDO:0005855 molluscum contagiosum MONDO:0005108 DOID:8867 DOID:934 viral infectious disease MONDO:0005858 mucinous cystadenocarcinoma MONDO:0005596 DOID:3603 DOID:3111 cystadenocarcinoma MONDO:0005859 mucocutaneous leishmaniasis MONDO:0011989 DOID:9155 DOID:9065 leishmaniasis MONDO:0005864 muscle cancer MONDO:0000637 DOID:4045 DOID:0060100 musculoskeletal system cancer MONDO:0005865 mushroom workers' lung MONDO:0017853 DOID:2708 DOID:841 hypersensitivity pneumonitis MONDO:0005866 Mycobacterium avium complex disease MONDO:0000314 DOID:2755 DOID:0050338 primary bacterial infectious disease MONDO:0005867 Mycoplasma pneumoniae pneumonia MONDO:0004652 DOID:13276 DOID:874 bacterial pneumonia MONDO:0005870 necatoriasis MONDO:0004664 DOID:2790 DOID:883 helminthiasis MONDO:0005872 nervous system cancer MONDO:0004992 DOID:3093 DOID:0050686 cancer MONDO:0005873 neuroaspergillosis MONDO:0005657 DOID:13565 DOID:13564 aspergillosis MONDO:0005874 neuroschistosomiasis MONDO:0015254 DOID:13722 DOID:1395 schistosomiasis MONDO:0005875 Newcastle disease MONDO:0005108 DOID:2929 DOID:934 viral infectious disease MONDO:0005881 oligohydramnios MONDO:0005917 DOID:12215 DOID:780 placenta disorder MONDO:0005884 opisthorchiasis MONDO:0004664 DOID:13768 DOID:883 helminthiasis MONDO:0005885 optic neuritis MONDO:0002135 DOID:1210 DOID:1891 optic nerve disorder MONDO:0005886 oral candidiasis MONDO:0002026 DOID:14262 DOID:1508 candidiasis MONDO:0005886 oral candidiasis MONDO:0006858 DOID:14262 DOID:403 mouth disorder MONDO:0005887 oral tuberculosis MONDO:0005768 DOID:402 DOID:404 gastrointestinal tuberculosis MONDO:0005887 oral tuberculosis MONDO:0006858 DOID:402 DOID:403 mouth disorder MONDO:0005888 ornithosis MONDO:0000314 DOID:11262 DOID:0050338 primary bacterial infectious disease MONDO:0005890 osteitis fibrosa MONDO:0000837 DOID:3341 DOID:0080011 bone resorption disease MONDO:0005891 ostertagiasis MONDO:0005994 DOID:3985 DOID:1255 trichostrongyloidiasis MONDO:0005893 pancreatic endocrine carcinoma MONDO:0005815 DOID:1798 DOID:1799 pancreatic neuroendocrine neoplasm MONDO:0005894 paracoccidioidomycosis MONDO:0000308 DOID:12662 DOID:0050292 primary systemic mycosis MONDO:0005895 paragonimiasis MONDO:0004664 DOID:10699 DOID:883 helminthiasis MONDO:0005898 paronychia MONDO:0002884 DOID:13117 DOID:4123 nail disorder MONDO:0005899 parotid disorder MONDO:0001142 DOID:10302 DOID:10854 salivary gland disorder MONDO:0005900 parotitis MONDO:0005899 DOID:10301 DOID:10302 parotid disorder MONDO:0005903 pericardial tuberculosis MONDO:0000368 DOID:4962 DOID:0050598 extrapulmonary tuberculosis MONDO:0005904 pericarditis MONDO:0000474 DOID:1787 DOID:0050829 pericardium disorder MONDO:0005905 periodic limb movement disorder MONDO:0003406 DOID:9207 DOID:535 sleep-wake disorder MONDO:0005907 persian gulf syndrome MONDO:0002254 DOID:4491 DOID:225 syndromic disease MONDO:0005910 phagocyte bactericidal dysfunction MONDO:0003778 DOID:3262 DOID:612 inborn error of immunity MONDO:0005911 pharyngoconjunctival fever MONDO:0005108 DOID:13801 DOID:934 viral infectious disease MONDO:0005912 phencyclidine abuse MONDO:0002491 DOID:5062 DOID:302 substance abuse MONDO:0005915 pityriasis versicolor MONDO:0024268 DOID:9060 DOID:0050133 superficial mycosis MONDO:0005916 placenta accreta MONDO:0005917 DOID:4744 DOID:780 placenta disorder MONDO:0005917 placenta disorder MONDO:0002654 DOID:780 DOID:345 uterine disorder MONDO:0005918 placenta praevia MONDO:0005917 DOID:11060 DOID:780 placenta disorder MONDO:0005919 placental insufficiency MONDO:0005917 DOID:3891 DOID:780 placenta disorder MONDO:0005920 Plasmodium falciparum malaria MONDO:0005136 DOID:14067 DOID:12365 malaria MONDO:0005921 Plasmodium vivax malaria MONDO:0005136 DOID:12978 DOID:12365 malaria MONDO:0005922 pleural tuberculosis MONDO:0000368 DOID:106 DOID:0050598 extrapulmonary tuberculosis MONDO:0005928 post-thrombotic syndrome MONDO:0000945 DOID:2364 DOID:10128 venous insufficiency MONDO:0005933 pulmonary blastoma MONDO:0005565 DOID:4765 DOID:0070003 blastoma MONDO:0005937 REM sleep behavior disorder MONDO:0003406 DOID:9091 DOID:535 sleep-wake disorder MONDO:0005938 renal tuberculosis MONDO:0005240 DOID:9733 DOID:557 kidney disorder MONDO:0005938 renal tuberculosis MONDO:0006002 DOID:9733 DOID:2149 urogenital tuberculosis MONDO:0005942 Reye syndrome MONDO:0002254 DOID:14525 DOID:225 syndromic disease MONDO:0005945 rhinoscleroma MONDO:0000314 DOID:11336 DOID:0050338 primary bacterial infectious disease MONDO:0005946 rhinosporidiosis MONDO:0000307 DOID:2409 DOID:0050291 parasitic Ichthyosporea infectious disease MONDO:0005953 scirrhous adenocarcinoma MONDO:0004970 DOID:4024 DOID:299 adenocarcinoma MONDO:0005954 screw worm infectious disease MONDO:0019147 DOID:12927 DOID:11080 myiasis MONDO:0005956 septicemic plague MONDO:0019095 DOID:3481 DOID:3482 plague MONDO:0005957 setariasis MONDO:0016075 DOID:1079 DOID:1080 filariasis MONDO:0005959 sick building syndrome MONDO:0017853 DOID:2710 DOID:841 hypersensitivity pneumonitis MONDO:0005960 silicosis MONDO:0015926 DOID:10325 DOID:10316 pneumoconiosis MONDO:0005961 sinusitis MONDO:0001735 DOID:0050127 DOID:1352 paranasal sinus disorder MONDO:0005962 skeletal tuberculosis MONDO:0000368 DOID:1639 DOID:0050598 extrapulmonary tuberculosis MONDO:0005964 sphenoid sinusitis MONDO:0005961 DOID:10794 DOID:0050127 sinusitis MONDO:0005966 spleen cancer MONDO:0000612 DOID:672 DOID:0060073 lymphatic system cancer MONDO:0005967 splenic tuberculosis MONDO:0000369 DOID:9305 DOID:0050599 abdominal tuberculosis MONDO:0005967 splenic tuberculosis MONDO:0002332 DOID:9305 DOID:2529 splenic disorder MONDO:0005971 staphyloenterotoxemia MONDO:0000314 DOID:96 DOID:0050338 primary bacterial infectious disease MONDO:0005972 streptococcal pneumonia MONDO:0004652 DOID:0040084 DOID:874 bacterial pneumonia MONDO:0005975 suppurative otitis media MONDO:0005441 DOID:11506 DOID:10754 otitis media MONDO:0005976 syphilis MONDO:0000314 DOID:4166 DOID:0050338 primary bacterial infectious disease MONDO:0005977 tabes dorsalis MONDO:0004944 DOID:10027 DOID:9988 neurosyphilis MONDO:0005978 theileriasis MONDO:0002428 DOID:3733 DOID:2789 protozoa infectious disease MONDO:0005979 thoracic outlet syndrome MONDO:0005385 DOID:3103 DOID:178 vascular disorder MONDO:0005980 tick infestation MONDO:0002875 DOID:4109 DOID:4110 parasitic ectoparasitic infectious disease MONDO:0005981 tick paralysis MONDO:0005980 DOID:11285 DOID:4109 tick infestation MONDO:0005984 tinea pedis MONDO:0004678 DOID:12403 DOID:8913 dermatophytosis MONDO:0005989 toxoplasmosis MONDO:0005707 DOID:9965 DOID:2113 coccidiosis MONDO:0005990 tracheitis MONDO:0002567 DOID:9392 DOID:3225 tracheal disorder MONDO:0005991 trench fever MONDO:0005664 DOID:11101 DOID:11102 bartonellosis MONDO:0005993 Trichomonas vaginitis urogenital infection MONDO:0002154 DOID:0050269 DOID:1947 trichomoniasis MONDO:0005994 trichostrongyloidiasis MONDO:0004664 DOID:1255 DOID:883 helminthiasis MONDO:0005995 trichostrongylosis MONDO:0005994 DOID:1254 DOID:1255 trichostrongyloidiasis MONDO:0005997 tricuspid valve stenosis MONDO:0000471 DOID:4078 DOID:0050826 tricuspid valve disorder MONDO:0005998 trombiculiasis MONDO:0004389 DOID:8399 DOID:7894 mite infestation MONDO:0005999 tuberculous empyema MONDO:0018667 DOID:14305 DOID:3798 pleural empyema MONDO:0006000 tuberculous peritonitis MONDO:0005768 DOID:9801 DOID:404 gastrointestinal tuberculosis MONDO:0006001 urinary schistosomiasis MONDO:0006026 DOID:1394 DOID:365 urinary bladder disorder MONDO:0006001 urinary schistosomiasis MONDO:0015254 DOID:1394 DOID:1395 schistosomiasis MONDO:0006002 urogenital tuberculosis MONDO:0000368 DOID:2149 DOID:0050598 extrapulmonary tuberculosis MONDO:0006003 uterine corpus cancer MONDO:0002715 DOID:9460 DOID:363 uterine cancer MONDO:0006007 vesicoureteral reflux MONDO:0001926 DOID:9620 DOID:1426 ureteral disorder MONDO:0006008 vestibular neuronitis MONDO:0001563 DOID:12683 DOID:12657 vestibulocochlear nerve disorder MONDO:0006011 viral hepatitis MONDO:0002251 DOID:1884 DOID:2237 hepatitis MONDO:0006012 viral pneumonia MONDO:0005249 DOID:10533 DOID:552 pneumonia MONDO:0006018 Wissler syndrome MONDO:0002254 DOID:3047 DOID:225 syndromic disease MONDO:0006021 Prinzmetal angina MONDO:0005356 DOID:0111151 DOID:11840 coronary vasospasm MONDO:0006025 autosomal recessive disease MONDO:0000429 DOID:0050737 DOID:0050739 autosomal genetic disease MONDO:0006026 urinary bladder disorder MONDO:0002118 DOID:365 DOID:18 urinary system disorder MONDO:0006028 cecum adenocarcinoma MONDO:0006029 DOID:3039 DOID:1519 cecum carcinoma MONDO:0006029 cecum carcinoma MONDO:0002033 DOID:1519 DOID:1521 cecum cancer MONDO:0006030 chronic cystitis MONDO:0006032 DOID:1680 DOID:1679 cystitis MONDO:0006032 cystitis MONDO:0006026 DOID:1679 DOID:365 urinary bladder disorder MONDO:0006035 gastric tubular adenocarcinoma MONDO:0005036 DOID:6595 DOID:3717 gastric adenocarcinoma MONDO:0006036 granulosa cell tumor MONDO:0006055 DOID:2999 DOID:192 sex cord-stromal tumor MONDO:0006037 hydrolethalus syndrome MONDO:0006025 DOID:0050779 DOID:0050737 autosomal recessive disease MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0002752 DOID:5304 DOID:3713 ovarian adenocarcinoma MONDO:0006046 ovarian serous cystadenocarcinoma MONDO:0002702 DOID:5746 DOID:3605 ovarian cystadenocarcinoma MONDO:0006047 pancreatic adenocarcinoma MONDO:0004970 DOID:4074 DOID:299 adenocarcinoma MONDO:0006047 pancreatic adenocarcinoma MONDO:0005192 DOID:4074 DOID:4905 exocrine pancreatic carcinoma MONDO:0006049 papillary lung adenocarcinoma MONDO:0005061 DOID:5588 DOID:3910 lung adenocarcinoma MONDO:0006052 pulmonary tuberculosis MONDO:0018076 DOID:2957 DOID:399 tuberculosis MONDO:0006056 squamous cell breast carcinoma MONDO:0005096 DOID:5514 DOID:1749 squamous cell carcinoma MONDO:0006056 squamous cell breast carcinoma MONDO:0006043 DOID:5514 DOID:4680 metaplastic breast carcinoma MONDO:0006074 adenosquamous carcinoma MONDO:0005096 DOID:4830 DOID:1749 squamous cell carcinoma MONDO:0006081 anal melanoma MONDO:0001879 DOID:14145 DOID:14110 anus cancer MONDO:0006082 anal squamous cell carcinoma MONDO:0003199 DOID:5525 DOID:4908 anal carcinoma MONDO:0006085 angiolipoma MONDO:0005106 DOID:3616 DOID:3315 lipoma MONDO:0006087 appendix adenocarcinoma MONDO:0003196 DOID:3608 DOID:4902 appendix carcinoma MONDO:0006109 malignant biphasic mesothelioma MONDO:0006292 DOID:4486 DOID:1790 malignant mesothelioma MONDO:0006118 breast fibrosis MONDO:0003724 DOID:10353 DOID:5997 non-proliferative fibrocystic change of the breast MONDO:0006131 cerebellar liponeurocytoma MONDO:0002913 DOID:6458 DOID:4205 cerebellar neoplasm MONDO:0006135 cervical clear cell adenocarcinoma MONDO:0005153 DOID:5303 DOID:3702 cervical adenocarcinoma MONDO:0006138 cervical large cell neuroendocrine carcinoma MONDO:0005131 DOID:6659 DOID:2893 cervical carcinoma MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant MONDO:0002742 DOID:6627 DOID:3701 cervical mucinous adenocarcinoma MONDO:0006141 cervical villoglandular adenocarcinoma MONDO:0002742 DOID:8338 DOID:3701 cervical mucinous adenocarcinoma MONDO:0006142 cervical small cell carcinoma MONDO:0005131 DOID:6740 DOID:2893 cervical carcinoma MONDO:0006143 cervical squamous cell carcinoma MONDO:0005096 DOID:3744 DOID:1749 squamous cell carcinoma MONDO:0006143 cervical squamous cell carcinoma MONDO:0005131 DOID:3744 DOID:2893 cervical carcinoma MONDO:0006145 chondroid chordoma MONDO:0008978 DOID:4152 DOID:3302 chordoma MONDO:0006170 conjunctival disorder MONDO:0005328 DOID:4251 DOID:5614 eye disorder MONDO:0006173 conjunctival squamous cell carcinoma MONDO:0003454 DOID:1748 DOID:5467 conjunctival cancer MONDO:0006180 digestive system adenoma MONDO:0004972 DOID:4147 DOID:657 adenoma MONDO:0006181 digestive system carcinoma MONDO:0002516 DOID:0050922 DOID:3119 digestive system cancer MONDO:0006181 digestive system carcinoma MONDO:0004993 DOID:0050922 DOID:305 carcinoma MONDO:0006183 disseminated peritoneal leiomyomatosis MONDO:0000650 DOID:5728 DOID:0060117 peritoneal benign neoplasm MONDO:0006191 endometrial clear cell adenocarcinoma MONDO:0005461 DOID:5299 DOID:2870 endometrium adenocarcinoma MONDO:0006196 endometrial serous adenocarcinoma MONDO:0006003 DOID:5750 DOID:9460 uterine corpus cancer MONDO:0006198 endometrial squamous cell carcinoma MONDO:0002447 DOID:5533 DOID:2871 endometrial carcinoma MONDO:0006198 endometrial squamous cell carcinoma MONDO:0005096 DOID:5533 DOID:1749 squamous cell carcinoma MONDO:0006200 epithelioid cell uveal melanoma MONDO:0002973 DOID:7040 DOID:4360 epithelioid cell melanoma MONDO:0006200 epithelioid cell uveal melanoma MONDO:0006486 DOID:7040 DOID:6039 uveal melanoma MONDO:0006201 ethmoid sinus adenoid cystic carcinoma MONDO:0001763 DOID:2764 DOID:1363 ethmoid sinus cancer MONDO:0006206 fallopian tube carcinoma MONDO:0002158 DOID:1963 DOID:1964 fallopian tube cancer MONDO:0006206 fallopian tube carcinoma MONDO:0004993 DOID:1963 DOID:305 carcinoma MONDO:0006208 fallopian tube serous adenocarcinoma MONDO:0002746 DOID:5598 DOID:3706 fallopian tube adenocarcinoma MONDO:0006210 fibrolamellar hepatocellular carcinoma MONDO:0007256 DOID:5015 DOID:684 hepatocellular carcinoma MONDO:0006215 gallbladder adenocarcinoma MONDO:0003220 DOID:3500 DOID:4948 gallbladder carcinoma MONDO:0006215 gallbladder adenocarcinoma MONDO:0004970 DOID:3500 DOID:299 adenocarcinoma MONDO:0006219 gallbladder small cell neuroendocrine carcinoma MONDO:0003220 DOID:7133 DOID:4948 gallbladder carcinoma MONDO:0006220 gallbladder squamous cell carcinoma MONDO:0003220 DOID:5535 DOID:4948 gallbladder carcinoma MONDO:0006220 gallbladder squamous cell carcinoma MONDO:0005096 DOID:5535 DOID:1749 squamous cell carcinoma MONDO:0006228 gastric papillary adenocarcinoma MONDO:0005036 DOID:5593 DOID:3717 gastric adenocarcinoma MONDO:0006229 gastric small cell neuroendocrine carcinoma MONDO:0004950 DOID:6552 DOID:5517 gastric carcinoma MONDO:0006230 gastric squamous cell carcinoma MONDO:0004950 DOID:5516 DOID:5517 gastric carcinoma MONDO:0006230 gastric squamous cell carcinoma MONDO:0005096 DOID:5516 DOID:1749 squamous cell carcinoma MONDO:0006234 grade III prostatic intraepithelial neoplasia MONDO:0004647 DOID:8634 DOID:8719 in situ carcinoma MONDO:0006243 hepatoid adenocarcinoma MONDO:0004970 DOID:0060534 DOID:299 adenocarcinoma MONDO:0006260 kidney medullary carcinoma MONDO:0005086 DOID:0070475 DOID:4450 renal cell carcinoma MONDO:0006262 lacrimal gland adenoid cystic carcinoma MONDO:0002475 DOID:4870 DOID:298 lacrimal gland adenocarcinoma MONDO:0006264 laryngeal adenoid cystic carcinoma MONDO:0002358 DOID:4869 DOID:2600 laryngeal carcinoma MONDO:0006266 Leydig cell tumor MONDO:0006055 DOID:2696 DOID:192 sex cord-stromal tumor MONDO:0006281 lung signet ring cell carcinoma MONDO:0005061 DOID:0080305 DOID:3910 lung adenocarcinoma MONDO:0006287 malignancy in giant cell tumor of bone MONDO:0002402 DOID:4719 DOID:2705 malignant giant cell tumor MONDO:0006292 malignant mesothelioma MONDO:0004992 DOID:1790 DOID:0050687 cancer MONDO:0006295 malignant urinary system neoplasm MONDO:0004992 DOID:3996 DOID:0050686 cancer MONDO:0006297 maxillary sinus adenoid cystic carcinoma MONDO:0001748 DOID:7198 DOID:1357 maxillary sinus carcinoma MONDO:0006300 medullomyoblastoma with myogenic differentiation MONDO:0007959 DOID:3861 DOID:0050902 medulloblastoma MONDO:0006301 metanephric adenoma MONDO:0002395 DOID:6404 DOID:2697 renal adenoma MONDO:0006303 middle ear squamous cell carcinoma MONDO:0003190 DOID:5526 DOID:4893 middle ear carcinoma MONDO:0006309 mucinous gastric adenocarcinoma MONDO:0004957 DOID:3716 DOID:3030 mucinous adenocarcinoma MONDO:0006325 ocular melanoma MONDO:0002236 DOID:1752 DOID:2174 ocular cancer MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0002752 DOID:5828 DOID:3713 ovarian adenocarcinoma MONDO:0006337 ovarian endometriosis MONDO:0005133 DOID:11432 DOID:289 endometriosis MONDO:0006337 ovarian endometriosis MONDO:0005558 DOID:11432 DOID:1100 ovarian disorder MONDO:0006340 ovarian serous adenofibroma MONDO:0000646 DOID:5474 DOID:0060112 ovarian benign neoplasm MONDO:0006343 ovarian transitional cell carcinoma MONDO:0006474 DOID:4000 DOID:2671 transitional cell carcinoma MONDO:0006346 pancreatic acinar cell carcinoma MONDO:0006047 DOID:5742 DOID:4074 pancreatic adenocarcinoma MONDO:0006350 papillary transitional cell carcinoma MONDO:0006474 DOID:4012 DOID:2671 transitional cell carcinoma MONDO:0006360 penile carcinoma MONDO:0001325 DOID:3449 DOID:11615 penile cancer MONDO:0006360 penile carcinoma MONDO:0004993 DOID:3449 DOID:305 carcinoma MONDO:0006372 pituicytoma MONDO:0003257 DOID:0081280 DOID:5048 posterior pituitary gland neoplasm MONDO:0006373 pituitary gland adenoma MONDO:0004972 DOID:3829 DOID:657 adenoma MONDO:0006374 placental choriocarcinoma MONDO:0020550 DOID:2024 DOID:2025 gestational choriocarcinoma MONDO:0006375 placental hemangioma MONDO:0006500 DOID:277 DOID:255 hemangioma MONDO:0006389 prostate rhabdomyosarcoma MONDO:0002854 DOID:3252 DOID:4054 prostate sarcoma MONDO:0006406 sarcomatoid carcinoma MONDO:0004993 DOID:4015 DOID:305 carcinoma MONDO:0006407 sarcomatoid mesothelioma MONDO:0006292 DOID:4488 DOID:1790 malignant mesothelioma MONDO:0006426 spinal cord primitive neuroectodermal tumor MONDO:0003544 DOID:6872 DOID:5612 spinal cord cancer MONDO:0006427 spindle cell melanoma MONDO:0005105 DOID:3162 DOID:1909 melanoma MONDO:0006432 stromal predominant kidney Wilms tumor MONDO:0019004 DOID:5191 DOID:2154 kidney Wilms tumor MONDO:0006444 teratoma with malignant transformation MONDO:0002601 DOID:0081246 DOID:3307 teratoma MONDO:0006446 testicular embryonal carcinoma MONDO:0005440 DOID:5680 DOID:3308 embryonal carcinoma MONDO:0006447 testicular non-seminomatous germ cell tumor MONDO:0010108 DOID:4086 DOID:5557 testicular germ cell tumor MONDO:0006451 thymic carcinoma MONDO:0002586 DOID:3284 DOID:3277 thymus cancer MONDO:0006451 thymic carcinoma MONDO:0004993 DOID:3284 DOID:305 carcinoma MONDO:0006452 thymic sarcomatoid carcinoma MONDO:0006451 DOID:8138 DOID:3284 thymic carcinoma MONDO:0006458 thymoma type B3 MONDO:0016974 DOID:7926 DOID:3282 thymoma type B MONDO:0006459 thymoma type B1 MONDO:0016974 DOID:6917 DOID:3282 thymoma type B MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0015075 DOID:0050923 DOID:3963 thyroid gland carcinoma MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0015075 DOID:0081461 DOID:3963 thyroid gland carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0015075 DOID:0080522 DOID:3963 thyroid gland carcinoma MONDO:0006469 tibial adamantinoma MONDO:0002422 DOID:6322 DOID:2775 adamantinoma MONDO:0006471 tracheal adenoid cystic carcinoma MONDO:0003184 DOID:4875 DOID:4876 trachea carcinoma MONDO:0006474 transitional cell carcinoma MONDO:0004993 DOID:2671 DOID:305 carcinoma MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant MONDO:0002142 DOID:6192 DOID:1907 undifferentiated pleomorphic sarcoma MONDO:0006481 ureter carcinoma MONDO:0004993 DOID:4939 DOID:305 carcinoma MONDO:0006481 ureter carcinoma MONDO:0008627 DOID:4939 DOID:11819 ureter cancer MONDO:0006486 uveal melanoma MONDO:0002659 DOID:6039 DOID:3479 uveal cancer MONDO:0006504 acquired metabolic disease MONDO:0005066 DOID:0060158 DOID:0014667 metabolic disease MONDO:0006505 basal ganglia cerebrovascular disorder MONDO:0011057 DOID:10991 DOID:6713 cerebrovascular disorder MONDO:0006506 congenital nonspherocytic hemolytic anemia MONDO:0003689 DOID:2861 DOID:589 familial hemolytic anemia MONDO:0006507 hereditary hemochromatosis MONDO:0004689 DOID:2352 DOID:896 inborn metal metabolism disorder MONDO:0006509 papillary carcinoma MONDO:0004993 DOID:3113 DOID:305 carcinoma MONDO:0006510 renal tubular transport disease MONDO:0005240 DOID:447 DOID:557 kidney disorder MONDO:0006515 acute pancreatitis MONDO:0004982 DOID:2913 DOID:4989 pancreatitis MONDO:0006519 rectal cancer MONDO:0005575 DOID:1993 DOID:9256 colorectal cancer MONDO:0006520 Achenbach syndrome MONDO:0005093 DOID:6687 DOID:37 skin disorder MONDO:0006521 acneiform dermatitis MONDO:0002406 DOID:4399 DOID:2723 dermatitis MONDO:0006522 acquired keratosis MONDO:0006566 DOID:13072 DOID:161 keratosis MONDO:0006523 acrodermatitis MONDO:0002406 DOID:2722 DOID:2723 dermatitis MONDO:0006524 acrodermatitis chronica atrophicans MONDO:0006523 DOID:0060344 DOID:2722 acrodermatitis MONDO:0006525 allergic contact dermatitis MONDO:0005480 DOID:3042 DOID:2773 contact dermatitis MONDO:0006526 allergic urticaria MONDO:0005492 DOID:10612 DOID:1555 urticaria MONDO:0006528 bacterial exanthem MONDO:0006547 DOID:0050487 DOID:0050486 exanthem MONDO:0006530 cholesteatoma MONDO:0006566 DOID:869 DOID:161 keratosis MONDO:0006531 cholesteatoma of attic MONDO:0006533 DOID:10963 DOID:10964 cholesteatoma of middle ear MONDO:0006532 cholesteatoma of external ear MONDO:0002776 DOID:9462 DOID:379 external ear disorder MONDO:0006532 cholesteatoma of external ear MONDO:0006530 DOID:9462 DOID:869 cholesteatoma MONDO:0006533 cholesteatoma of middle ear MONDO:0003276 DOID:10964 DOID:5100 middle ear disorder MONDO:0006533 cholesteatoma of middle ear MONDO:0006530 DOID:10964 DOID:869 cholesteatoma MONDO:0006534 cholinergic urticaria MONDO:0006599 DOID:14443 DOID:0060220 physical urticaria MONDO:0006536 congenital generalized lipodystrophy MONDO:0027766 DOID:0050585 DOID:0080298 generalized lipodystrophy MONDO:0006539 diffuse lipomatosis MONDO:0006574 DOID:3923 DOID:3153 lipomatosis MONDO:0006540 dyshidrosis MONDO:0006615 DOID:9230 DOID:1383 sweat gland disorder MONDO:0006541 epidermolysis bullosa MONDO:0006617 DOID:2730 DOID:2731 vesiculobullous skin disease MONDO:0006544 erythema infectiosum MONDO:0006619 DOID:8743 DOID:8672 viral exanthem MONDO:0006545 erythema multiforme MONDO:0005093 DOID:0050185 DOID:37 skin disorder MONDO:0006546 erythematosquamous dermatosis MONDO:0005093 DOID:9097 DOID:37 skin disorder MONDO:0006547 exanthem MONDO:0005093 DOID:0050486 DOID:37 skin disorder MONDO:0006548 facial dermatosis MONDO:0005093 DOID:3134 DOID:37 skin disorder MONDO:0006550 fibroepithelial polyp of urethra MONDO:0004184 DOID:8108 DOID:732 urethral disorder MONDO:0006551 alopecia mucinosa MONDO:0006607 DOID:9905 DOID:9098 sebaceous gland disorder MONDO:0006552 folliculitis MONDO:0002406 DOID:4409 DOID:2723 dermatitis MONDO:0006552 folliculitis MONDO:0002917 DOID:4409 DOID:421 disorder of pilosebaceous unit MONDO:0006553 Fox-Fordyce disease MONDO:0006615 DOID:1381 DOID:1383 sweat gland disorder MONDO:0006554 granuloma annulare MONDO:0002406 DOID:3777 DOID:2723 dermatitis MONDO:0006555 granulomatous dermatitis MONDO:0002406 DOID:4397 DOID:2723 dermatitis MONDO:0006556 hand dermatosis MONDO:0005093 DOID:3158 DOID:37 skin disorder MONDO:0006557 hemangioma of subcutaneous tissue MONDO:0006500 DOID:13081 DOID:255 hemangioma MONDO:0006558 pemphigoid gestationis MONDO:0006594 DOID:0040098 DOID:9182 pemphigus MONDO:0006559 hidradenitis suppurativa MONDO:0002260 DOID:2280 DOID:2282 hidradenitis MONDO:0006561 eyelid hypopigmentation MONDO:0003382 DOID:11668 DOID:530 eyelid disorder MONDO:0006563 inverted follicular keratosis MONDO:0008420 DOID:6945 DOID:6498 seborrheic keratosis MONDO:0006564 irritant dermatitis MONDO:0005480 DOID:2772 DOID:2773 contact dermatitis MONDO:0006565 juvenile dermatitis herpetiformis MONDO:0015614 DOID:8507 DOID:8505 dermatitis herpetiformis MONDO:0006566 keratosis MONDO:0005093 DOID:161 DOID:37 skin disorder MONDO:0006569 leg dermatosis MONDO:0005093 DOID:3142 DOID:37 skin disorder MONDO:0006570 lichen disease MONDO:0005093 DOID:8574 DOID:37 skin disorder MONDO:0006571 lichen nitidus MONDO:0006570 DOID:8573 DOID:8574 lichen disease MONDO:0006572 lichen planus MONDO:0006570 DOID:9201 DOID:8574 lichen disease MONDO:0006576 Ludwig's angina MONDO:0005230 DOID:4558 DOID:3488 cellulitis MONDO:0006577 maxillary sinus cholesteatoma MONDO:0001735 DOID:867 DOID:1352 paranasal sinus disorder MONDO:0006577 maxillary sinus cholesteatoma MONDO:0006530 DOID:867 DOID:869 cholesteatoma MONDO:0006578 mediastinal lipomatosis MONDO:0006574 DOID:3926 DOID:3153 lipomatosis MONDO:0006579 melanoacanthoma MONDO:0008420 DOID:11684 DOID:6498 seborrheic keratosis MONDO:0006580 miliaria MONDO:0006615 DOID:1382 DOID:1383 sweat gland disorder MONDO:0006581 miliaria rubra MONDO:0006580 DOID:11153 DOID:1382 miliaria MONDO:0006582 mongolian spot MONDO:0005093 DOID:4702 DOID:37 skin disorder MONDO:0006585 neurodermatitis MONDO:0002406 DOID:3309 DOID:2723 dermatitis MONDO:0006586 neurotic excoriation MONDO:0002406 DOID:9165 DOID:2723 dermatitis MONDO:0006589 occupational dermatitis MONDO:0005480 DOID:4404 DOID:2773 contact dermatitis MONDO:0006590 palmoplantar keratosis MONDO:0006566 DOID:3390 DOID:161 keratosis MONDO:0006591 panniculitis MONDO:0003900 DOID:1526 DOID:65 connective tissue disorder MONDO:0006592 parapsoriasis MONDO:0005083 DOID:9088 DOID:8893 psoriasis MONDO:0006593 pelvic lipomatosis MONDO:0006574 DOID:3927 DOID:3153 lipomatosis MONDO:0006594 pemphigus MONDO:0019337 DOID:9182 DOID:8502 autoimmune bullous skin disease MONDO:0006596 photoallergic dermatitis MONDO:0006525 DOID:3818 DOID:3042 allergic contact dermatitis MONDO:0006598 phototoxic dermatitis MONDO:0006564 DOID:4407 DOID:2772 irritant dermatitis MONDO:0006599 physical urticaria MONDO:0005492 DOID:0060220 DOID:1555 urticaria MONDO:0006601 pityriasis rosea MONDO:0002406 DOID:8892 DOID:2723 dermatitis MONDO:0006602 porokeratosis MONDO:0006566 DOID:3805 DOID:161 keratosis MONDO:0006603 reactive cutaneous fibrous lesion MONDO:0005093 DOID:2053 DOID:37 skin disorder MONDO:0006604 rosacea MONDO:0005093 DOID:8881 DOID:37 skin disorder MONDO:0006605 scalp dermatosis MONDO:0005093 DOID:3136 DOID:37 skin disorder MONDO:0006607 sebaceous gland disorder MONDO:0005093 DOID:9098 DOID:37 skin disorder MONDO:0006608 seborrheic dermatitis MONDO:0002406 DOID:8741 DOID:2723 dermatitis MONDO:0006609 seborrheic infantile dermatitis MONDO:0006608 DOID:8941 DOID:8741 seborrheic dermatitis MONDO:0006610 skin atrophy MONDO:0005093 DOID:2733 DOID:37 skin disorder MONDO:0006611 skin sarcoidosis MONDO:0005093 DOID:13402 DOID:37 skin disorder MONDO:0006611 skin sarcoidosis MONDO:0019338 DOID:13402 DOID:11335 sarcoidosis MONDO:0006612 steroid lipomatosis MONDO:0006574 DOID:3925 DOID:3153 lipomatosis MONDO:0006614 subcorneal pustular dermatosis MONDO:0019337 DOID:8508 DOID:8502 autoimmune bullous skin disease MONDO:0006615 sweat gland disorder MONDO:0005093 DOID:1383 DOID:37 skin disorder MONDO:0006616 toxicodendron dermatitis MONDO:0006525 DOID:3819 DOID:3042 allergic contact dermatitis MONDO:0006618 vibratory urticaria MONDO:0006599 DOID:1554 DOID:0060220 physical urticaria MONDO:0006619 viral exanthem MONDO:0006547 DOID:8672 DOID:0050486 exanthem MONDO:0006621 vulvar inverted follicular keratosis MONDO:0006563 DOID:6943 DOID:6945 inverted follicular keratosis MONDO:0006621 vulvar inverted follicular keratosis MONDO:0006622 DOID:6943 DOID:6944 vulvar seborrheic keratosis MONDO:0006622 vulvar seborrheic keratosis MONDO:0008420 DOID:6944 DOID:6498 seborrheic keratosis MONDO:0006624 overactive bladder MONDO:0006026 DOID:0070355 DOID:365 urinary bladder disorder MONDO:0006626 diabetic neuropathy MONDO:0005244 DOID:9743 DOID:870 peripheral neuropathy MONDO:0006633 acalculous cholecystitis MONDO:0002155 DOID:2828 DOID:1949 cholecystitis MONDO:0006634 pituitary gland acidophil adenoma MONDO:0006373 DOID:5392 DOID:3829 pituitary gland adenoma MONDO:0006637 acute kidney tubular necrosis MONDO:0002492 DOID:12556 DOID:3021 acute kidney failure MONDO:0006638 acute retinal necrosis syndrome MONDO:0002708 DOID:3611 DOID:3612 retinitis MONDO:0006641 afferent loop syndrome MONDO:0004566 DOID:8438 DOID:8439 postgastrectomy syndrome MONDO:0006643 alcoholic cardiomyopathy MONDO:0002824 DOID:12935 DOID:3978 extrinsic cardiomyopathy MONDO:0006644 alcoholic liver cirrhosis MONDO:0005155 DOID:14018 DOID:5082 cirrhosis of liver MONDO:0006647 anterior cerebral artery infarction MONDO:0002679 DOID:3528 DOID:3526 cerebral infarction MONDO:0006648 anterior compartment of tibia syndrome MONDO:0004001 DOID:3933 DOID:682 compartment syndrome MONDO:0006649 anterior ischemic optic neuropathy MONDO:0002135 DOID:12010 DOID:1891 optic nerve disorder MONDO:0006650 anterior spinal artery syndrome MONDO:0000473 DOID:6712 DOID:0050828 arterial disorder MONDO:0006650 anterior spinal artery syndrome MONDO:0002254 DOID:6712 DOID:225 syndromic disease MONDO:0006652 anterolateral myocardial infarction MONDO:0005068 DOID:5845 DOID:5844 myocardial infarction MONDO:0006653 anthracosilicosis MONDO:0015926 DOID:10324 DOID:10316 pneumoconiosis MONDO:0006654 anthracosis MONDO:0015926 DOID:10327 DOID:10316 pneumoconiosis MONDO:0006655 aortic valve prolapse MONDO:0003803 DOID:5232 DOID:62 aortic valve disorder MONDO:0006656 aortitis MONDO:0005561 DOID:519 DOID:520 aortic disorder MONDO:0006660 arthus reaction MONDO:0007004 DOID:1556 DOID:1557 type III hypersensitivity disease MONDO:0006663 perinatal asphyxia MONDO:0005087 DOID:11088 DOID:1579 respiratory system disorder MONDO:0006664 atrial septal defect MONDO:0002078 DOID:1882 DOID:1681 heart septal defect MONDO:0006668 bacterial conjunctivitis MONDO:0003799 DOID:9700 DOID:6195 conjunctivitis MONDO:0006668 bacterial conjunctivitis MONDO:0005113 DOID:9700 DOID:104 bacterial infectious disease MONDO:0006670 bacterial meningitis MONDO:0004796 DOID:9470 DOID:9471 infectious meningitis MONDO:0006670 bacterial meningitis MONDO:0005113 DOID:9470 DOID:104 bacterial infectious disease MONDO:0006672 balanitis MONDO:0002036 DOID:13033 DOID:1529 penile disorder MONDO:0006673 pituitary gland basophil adenoma MONDO:0004805 DOID:4542 DOID:9500 leukocyte disorder MONDO:0006673 pituitary gland basophil adenoma MONDO:0006373 DOID:4542 DOID:3829 pituitary gland adenoma MONDO:0006677 bile reflux MONDO:0004868 DOID:12237 DOID:9741 biliary tract disorder MONDO:0006678 bladder calculus MONDO:0004828 DOID:11355 DOID:9590 lower urinary tract calculus MONDO:0006678 bladder calculus MONDO:0006026 DOID:11355 DOID:365 urinary bladder disorder MONDO:0006679 bladder neck obstruction MONDO:0006026 DOID:13948 DOID:365 urinary bladder disorder MONDO:0006682 brachial plexus neuritis MONDO:0002122 DOID:3689 DOID:1803 neuritis MONDO:0006682 brachial plexus neuritis MONDO:0006683 DOID:3689 DOID:3690 brachial plexus neuropathy MONDO:0006684 brain edema MONDO:0005560 DOID:4724 DOID:936 brain disorder MONDO:0006686 brain stem infarction MONDO:0005394 DOID:3523 DOID:3454 brain infarction MONDO:0006687 burning mouth syndrome MONDO:0006858 DOID:4331 DOID:403 mouth disorder MONDO:0006688 byssinosis MONDO:0015926 DOID:10323 DOID:10316 pneumoconiosis MONDO:0006690 carotid artery thrombosis MONDO:0002907 DOID:3410 DOID:4193 intracranial thrombosis MONDO:0006690 carotid artery thrombosis MONDO:0005269 DOID:3410 DOID:3407 carotid artery disorder MONDO:0006692 central pontine myelinolysis MONDO:0002562 DOID:636 DOID:3213 demyelinating disease MONDO:0006693 cerebral arterial disease MONDO:0006808 DOID:3527 DOID:13089 intracranial arterial disease MONDO:0006694 cerebral atherosclerosis MONDO:0005311 DOID:12720 DOID:1936 atherosclerosis MONDO:0006696 cervix erosion MONDO:0002256 DOID:3456 DOID:2253 cervix disorder MONDO:0006698 cholecystolithiasis MONDO:0005281 DOID:11151 DOID:0060262 gallbladder disorder MONDO:0006699 choledocholithiasis MONDO:0002886 DOID:11755 DOID:4137 common bile duct disorder MONDO:0006700 choroid cancer MONDO:0002659 DOID:12759 DOID:3479 uveal cancer MONDO:0006701 chromophobe adenoma MONDO:0006373 DOID:3828 DOID:3829 pituitary gland adenoma MONDO:0006710 complex partial epilepsy MONDO:0005384 DOID:12382 DOID:2234 focal epilepsy MONDO:0006711 constrictive pericarditis MONDO:0005904 DOID:11481 DOID:1787 pericarditis MONDO:0006712 corneal edema MONDO:0000942 DOID:11030 DOID:10124 corneal disorder MONDO:0006713 corneal neovascularization MONDO:0003085 DOID:11382 DOID:4677 keratitis MONDO:0006715 coronary stenosis MONDO:0005010 DOID:4248 DOID:3393 coronary artery disorder MONDO:0006716 coronary thrombosis MONDO:0000831 DOID:11847 DOID:0060903 thrombotic disease MONDO:0006716 coronary thrombosis MONDO:0005010 DOID:11847 DOID:3393 coronary artery disorder MONDO:0006717 cutaneous fibrous histiocytoma MONDO:0002989 DOID:4418 DOID:4415 benign fibrous histiocytoma MONDO:0006721 de Quervain disease MONDO:0006816 DOID:14107 DOID:381 arthropathy MONDO:0006722 dental fluorosis MONDO:0006999 DOID:13711 DOID:1091 tooth disorder MONDO:0006723 denture stomatitis MONDO:0004842 DOID:11875 DOID:9637 stomatitis MONDO:0006726 diaphragmatic eventration MONDO:0005728 DOID:10480 DOID:10481 diaphragm disorder MONDO:0006727 diastolic heart failure MONDO:0005009 DOID:9775 DOID:6000 congestive heart failure MONDO:0006729 discrete subaortic stenosis MONDO:0006987 DOID:5804 DOID:5805 subvalvular aortic stenosis MONDO:0006730 drug psychosis MONDO:0001423 DOID:1742 DOID:1203 drug-induced mental disorder MONDO:0006733 dry eye syndrome MONDO:0001854 DOID:10140 DOID:1400 lacrimal apparatus disorder MONDO:0006735 duodenogastric reflux MONDO:0002866 DOID:4071 DOID:4072 duodenal disorder MONDO:0006739 Ehrlich tumor carcinoma MONDO:0004989 DOID:5050 DOID:3459 breast carcinoma MONDO:0006740 empty sella syndrome MONDO:0003381 DOID:3642 DOID:53 pituitary gland disorder MONDO:0006741 encephalomalacia MONDO:0005560 DOID:2034 DOID:936 brain disorder MONDO:0006742 endemic goiter MONDO:0006873 DOID:13198 DOID:5113 nutritional deficiency disease MONDO:0006744 endolymphatic hydrops MONDO:0004900 DOID:9848 DOID:9847 peripheral vertigo MONDO:0006745 endometrioid stromal sarcoma MONDO:0003311 DOID:4226 DOID:5166 endometrial stromal tumor MONDO:0006746 endomyocardial fibrosis MONDO:0005201 DOID:12932 DOID:397 restrictive cardiomyopathy MONDO:0006754 esophageal diverticulosis MONDO:0003749 DOID:13185 DOID:6050 esophageal disorder MONDO:0006755 euthyroid sick syndrome MONDO:0003240 DOID:2856 DOID:50 thyroid gland disorder MONDO:0006757 extrahepatic cholestasis MONDO:0001751 DOID:13619 DOID:13580 cholestasis MONDO:0006759 femoral neuropathy MONDO:0001397 DOID:4196 DOID:1188 mononeuropathy MONDO:0006760 fetal erythroblastosis MONDO:0001245 DOID:1098 DOID:11252 microcytic anemia MONDO:0006764 fungal meningitis MONDO:0002041 DOID:11608 DOID:1564 fungal infectious disease MONDO:0006764 fungal meningitis MONDO:0004796 DOID:11608 DOID:9471 infectious meningitis MONDO:0006766 gait apraxia MONDO:0000665 DOID:4260 DOID:0060135 apraxia MONDO:0006767 gastric antral vascular ectasia MONDO:0001574 DOID:2493 DOID:1271 capillary disorder MONDO:0006769 gastroparesis MONDO:0001318 DOID:11914 DOID:1159 functional gastric disease MONDO:0006770 giant cell reparative granuloma MONDO:0005674 DOID:1866 DOID:4305 bone giant cell tumor MONDO:0006771 glossitis MONDO:0001165 DOID:1456 DOID:10944 tongue disorder MONDO:0006777 hairy tongue MONDO:0001165 DOID:13500 DOID:10944 tongue disorder MONDO:0006779 heart aneurysm MONDO:0005267 DOID:9768 DOID:114 heart disorder MONDO:0006782 hemometra MONDO:0002654 DOID:9958 DOID:345 uterine disorder MONDO:0006783 hemopneumothorax MONDO:0002076 DOID:2718 DOID:1673 pneumothorax MONDO:0006786 hepatic vein thrombosis MONDO:0002405 DOID:11512 DOID:272 hepatic vascular disorder MONDO:0006790 hypercementosis MONDO:0002220 DOID:12733 DOID:214 tooth hard tissue disease MONDO:0006792 hyperglobulinemic purpura MONDO:0002610 DOID:3325 DOID:3326 purpura MONDO:0006795 hypersplenism MONDO:0002332 DOID:6376 DOID:2529 splenic disorder MONDO:0006796 hypertensive encephalopathy MONDO:0006810 DOID:9427 DOID:9428 intracranial hypertension MONDO:0006797 hypertensive retinopathy MONDO:0005283 DOID:11561 DOID:5679 retinal disorder MONDO:0006798 hypervitaminosis A MONDO:0003916 DOID:9972 DOID:654 overnutrition MONDO:0006799 hypothalamic neoplasm MONDO:0002150 DOID:3644 DOID:1931 hypothalamic disorder MONDO:0006800 ideomotor apraxia MONDO:0000665 DOID:4627 DOID:0060135 apraxia MONDO:0006801 ileal neoplasm MONDO:0004251 DOID:10156 DOID:7505 small intestine neoplasm MONDO:0006802 inappropriate ADH syndrome MONDO:0003381 DOID:3401 DOID:53 pituitary gland disorder MONDO:0006803 inferior myocardial infarction MONDO:0005068 DOID:5850 DOID:5844 myocardial infarction MONDO:0006804 inflammatory breast carcinoma MONDO:0004988 DOID:6263 DOID:3458 breast adenocarcinoma MONDO:0006805 intermediate coronary syndrome MONDO:0005010 DOID:8805 DOID:3393 coronary artery disorder MONDO:0006806 intermediate uveitis MONDO:0020283 DOID:12732 DOID:13141 uveitis MONDO:0006807 intestinal perforation MONDO:0005020 DOID:2074 DOID:5295 intestinal disorder MONDO:0006808 intracranial arterial disease MONDO:0011057 DOID:13089 DOID:6713 cerebrovascular disorder MONDO:0006809 intracranial embolism MONDO:0011057 DOID:4372 DOID:6713 cerebrovascular disorder MONDO:0006810 intracranial hypertension MONDO:0005560 DOID:9428 DOID:936 brain disorder MONDO:0006811 intracranial hypotension MONDO:0005560 DOID:4723 DOID:936 brain disorder MONDO:0006812 intracranial vasospasm MONDO:0011057 DOID:13100 DOID:6713 cerebrovascular disorder MONDO:0006814 iritis MONDO:0002289 DOID:1406 DOID:240 iris disorder MONDO:0006815 jejunal cancer MONDO:0000956 DOID:13499 DOID:10154 small intestine cancer MONDO:0006817 juxtacortical osteosarcoma MONDO:0002628 DOID:3373 DOID:3374 peripheral osteosarcoma MONDO:0006821 kidney papillary necrosis MONDO:0005240 DOID:2981 DOID:557 kidney disorder MONDO:0006825 kuru MONDO:0005429 DOID:648 DOID:649 prion disease MONDO:0006826 kwashiorkor MONDO:0001371 DOID:13579 DOID:11801 protein-energy malnutrition MONDO:0006827 lateral medullary syndrome MONDO:0006686 DOID:3522 DOID:3523 brain stem infarction MONDO:0006828 nasal cavity and paranasal sinus lethal midline granuloma MONDO:0002436 DOID:9072 DOID:2825 nasal disorder MONDO:0006830 leukoplakia of penis MONDO:0002036 DOID:8738 DOID:1529 penile disorder MONDO:0006831 leukostasis MONDO:0004805 DOID:12986 DOID:9500 leukocyte disorder MONDO:0006833 lingual goiter MONDO:0005397 DOID:13196 DOID:12176 goiter MONDO:0006834 lip cancer MONDO:0005515 DOID:8564 DOID:8618 oral cavity cancer MONDO:0006836 Listeria meningitis MONDO:0006670 DOID:11572 DOID:9470 bacterial meningitis MONDO:0006837 low tension glaucoma MONDO:0005338 DOID:13544 DOID:1067 open-angle glaucoma MONDO:0006839 Lutembacher syndrome MONDO:0006664 DOID:1998 DOID:1882 atrial septal defect MONDO:0006843 macular holes MONDO:0005283 DOID:7633 DOID:5679 retinal disorder MONDO:0006846 malignant hypertension MONDO:0005044 DOID:10824 DOID:10763 hypertensive disorder MONDO:0006848 marasmus MONDO:0001371 DOID:12328 DOID:11801 protein-energy malnutrition MONDO:0006849 mastitis MONDO:0002657 DOID:10690 DOID:3463 breast disorder MONDO:0006850 maxillary sinus neoplasm MONDO:0005289 DOID:1358 DOID:1350 paranasal sinus neoplasm MONDO:0006853 mesenchymal chondrosarcoma MONDO:0008977 DOID:4545 DOID:3371 chondrosarcoma MONDO:0006855 mesenteric vascular occlusion MONDO:0005294 DOID:13252 DOID:341 peripheral vascular disease MONDO:0006857 middle cerebral artery infarction MONDO:0002679 DOID:3525 DOID:3526 cerebral infarction MONDO:0006862 myofascial pain syndrome MONDO:0005336 DOID:431 DOID:423 myopathy MONDO:0006864 necrotizing sialometaplasia MONDO:0001142 DOID:12901 DOID:10854 salivary gland disorder MONDO:0006865 necrotizing ulcerative gingivitis MONDO:0002508 DOID:13924 DOID:3087 gingivitis MONDO:0006866 neonatal myasthenia gravis MONDO:0009688 DOID:14043 DOID:437 myasthenia gravis MONDO:0006868 neurogenic bowel MONDO:0005020 DOID:13419 DOID:5295 intestinal disorder MONDO:0006869 nodular goiter MONDO:0005397 DOID:13197 DOID:12176 goiter MONDO:0006871 non-gestational choriocarcinoma MONDO:0005207 DOID:4320 DOID:3594 choriocarcinoma MONDO:0006873 nutritional deficiency disease MONDO:0005137 DOID:5113 DOID:374 nutritional disorder MONDO:0006874 obstructive jaundice MONDO:0001751 DOID:13603 DOID:13580 cholestasis MONDO:0006875 ocular hypertension MONDO:0005328 DOID:9282 DOID:5614 eye disorder MONDO:0006877 oophoritis MONDO:0005558 DOID:10974 DOID:1100 ovarian disorder MONDO:0006879 optic papillitis MONDO:0005885 DOID:10175 DOID:1210 optic neuritis MONDO:0006880 oral leukoedema MONDO:0006858 DOID:4557 DOID:403 mouth disorder MONDO:0006881 orbital cellulitis MONDO:0001230 DOID:11234 DOID:11230 acute orbital inflammation MONDO:0006882 orchitis MONDO:0002329 DOID:2518 DOID:2519 testicular disorder MONDO:0006883 malignant superior sulcus neoplasm MONDO:0008903 DOID:8007 DOID:1324 lung cancer MONDO:0006884 panophthalmitis MONDO:0004863 DOID:13732 DOID:9724 purulent endophthalmitis MONDO:0006887 parametritis MONDO:0000922 DOID:1260 DOID:1003 pelvic inflammatory disease MONDO:0006889 paraphimosis MONDO:0006904 DOID:5334 DOID:2712 phimosis MONDO:0006890 parathyroid gland adenoma MONDO:0004972 DOID:7608 DOID:657 adenoma MONDO:0006890 parathyroid gland adenoma MONDO:0021463 DOID:7608 DOID:60008 benign neoplasm of parathyroid gland MONDO:0006891 partial motor epilepsy MONDO:0005384 DOID:3327 DOID:2234 focal epilepsy MONDO:0006892 partial sensory epilepsy MONDO:0005384 DOID:3330 DOID:2234 focal epilepsy MONDO:0006894 patellofemoral pain syndrome MONDO:0006816 DOID:14284 DOID:381 arthropathy MONDO:0006895 penile neoplasm MONDO:0002036 DOID:11624 DOID:1529 penile disorder MONDO:0006896 peptic esophagitis MONDO:0001409 DOID:13976 DOID:11963 esophagitis MONDO:0006897 periapical granuloma MONDO:0004508 DOID:4617 DOID:823 periapical periodontitis MONDO:0006898 periarthritis MONDO:0002471 DOID:2964 DOID:2965 bursitis MONDO:0006899 pericoronitis MONDO:0002021 DOID:3671 DOID:1483 gingival disorder MONDO:0006900 perinephritis MONDO:0005240 DOID:2982 DOID:557 kidney disorder MONDO:0006903 peroneal nerve paralysis MONDO:0003620 DOID:6925 DOID:574 peripheral nervous system disorder MONDO:0006904 phimosis MONDO:0002036 DOID:2712 DOID:1529 penile disorder MONDO:0006907 pilar sheath acanthoma MONDO:0002093 DOID:4322 DOID:174 acanthoma MONDO:0006908 pituitary apoplexy MONDO:0001259 DOID:1129 DOID:1130 pituitary gland infarction MONDO:0006912 pneumatosis cystoides intestinalis MONDO:0005020 DOID:13249 DOID:5295 intestinal disorder MONDO:0006916 postcholecystectomy syndrome MONDO:0004868 DOID:9740 DOID:9741 biliary tract disorder MONDO:0006917 posterior cerebral artery infarction MONDO:0002679 DOID:3821 DOID:3526 cerebral infarction MONDO:0006920 prediabetes syndrome MONDO:0002908 DOID:11716 DOID:4194 glucose metabolism disease MONDO:0006933 pulmonary plasma cell granuloma MONDO:0005275 DOID:3677 DOID:850 lung disorder MONDO:0006935 pulmonary subvalvular stenosis MONDO:0006936 DOID:8861 DOID:6420 pulmonary valve stenosis MONDO:0006936 pulmonary valve stenosis MONDO:0003628 DOID:6420 DOID:5749 pulmonary valve disorder MONDO:0006937 pulpitis MONDO:0003394 DOID:11121 DOID:5330 dental pulp disorder MONDO:0006939 pyelonephritis MONDO:0006938 DOID:11400 DOID:2744 pyelitis MONDO:0006940 radial nerve lesion MONDO:0001459 DOID:12170 DOID:12171 radial neuropathy MONDO:0006945 renal artery obstruction MONDO:0002286 DOID:2972 DOID:2388 renal artery disease MONDO:0006947 renovascular hypertension MONDO:0001105 DOID:1591 DOID:1073 renal hypertension MONDO:0006948 retinal artery occlusion MONDO:0002089 DOID:8483 DOID:1729 retinal vascular occlusion MONDO:0006949 retinal drusen MONDO:0002175 DOID:2569 DOID:2007 degeneration of macula and posterior pole MONDO:0006950 retinal vasculitis MONDO:0002311 DOID:11563 DOID:2462 retinal vascular disorder MONDO:0006950 retinal vasculitis MONDO:0018882 DOID:11563 DOID:865 vasculitis MONDO:0006951 retinal vein occlusion MONDO:0002089 DOID:1727 DOID:1729 retinal vascular occlusion MONDO:0006953 Rh isoimmunization MONDO:0002901 DOID:4175 DOID:4176 blood group incompatibility MONDO:0006961 scrapie MONDO:0005429 DOID:5434 DOID:649 prion disease MONDO:0006964 secondary hyperparathyroidism MONDO:0001741 DOID:12466 DOID:13543 hyperparathyroidism MONDO:0006965 secondary hypertrophic osteoarthropathy MONDO:0006816 DOID:10393 DOID:381 arthropathy MONDO:0006966 secondary Parkinson disease MONDO:0005559 DOID:13548 DOID:1289 neurodegenerative disease MONDO:0006968 shoulder impingement syndrome MONDO:0006816 DOID:14276 DOID:381 arthropathy MONDO:0006969 sialadenitis MONDO:0001142 DOID:10303 DOID:10854 salivary gland disorder MONDO:0006970 sialolithiasis MONDO:0001142 DOID:12905 DOID:10854 salivary gland disorder MONDO:0006972 silo filler disease MONDO:0005275 DOID:4374 DOID:850 lung disorder MONDO:0006974 small cell sarcoma MONDO:0005089 DOID:3098 DOID:1115 sarcoma MONDO:0006977 spermatocele MONDO:0003150 DOID:11997 DOID:48 male reproductive system disorder MONDO:0006978 splenic infarction MONDO:0002332 DOID:2533 DOID:2529 splenic disorder MONDO:0006981 subacute bacterial endocarditis MONDO:0000565 DOID:4562 DOID:0060000 infective endocarditis MONDO:0006983 subclavian steal syndrome MONDO:0002254 DOID:13002 DOID:225 syndromic disease MONDO:0006986 substernal goiter MONDO:0005397 DOID:13200 DOID:12176 goiter MONDO:0006987 subvalvular aortic stenosis MONDO:0042981 DOID:5805 DOID:1712 aortic valve stenosis MONDO:0006989 suppurative periapical periodontitis MONDO:0004508 DOID:2562 DOID:823 periapical periodontitis MONDO:0006990 suppurative uveitis MONDO:0020283 DOID:13140 DOID:13141 uveitis MONDO:0006993 systolic heart failure MONDO:0005009 DOID:9651 DOID:6000 congestive heart failure MONDO:0006994 tarsal tunnel syndrome MONDO:0006997 DOID:12526 DOID:1187 tibial neuropathy MONDO:0006995 tethered spinal cord syndrome MONDO:0002545 DOID:1089 DOID:319 spinal cord disorder MONDO:0006997 tibial neuropathy MONDO:0001397 DOID:1187 DOID:1188 mononeuropathy MONDO:0006999 tooth disorder MONDO:0006858 DOID:1091 DOID:403 mouth disorder MONDO:0007002 trochlear nerve disorder MONDO:0003569 DOID:13864 DOID:5656 cranial nerve neuropathy MONDO:0007004 type III hypersensitivity disease MONDO:0000605 DOID:1557 DOID:0060056 hypersensitivity reaction disease MONDO:0007006 ulnar neuropathy MONDO:0001397 DOID:4613 DOID:1188 mononeuropathy MONDO:0007008 uremia MONDO:0001106 DOID:4676 DOID:1074 kidney failure MONDO:0007009 ureterolithiasis MONDO:0001926 DOID:14146 DOID:1426 ureteral disorder MONDO:0007011 uveoparotid fever MONDO:0019338 DOID:13404 DOID:11335 sarcoidosis MONDO:0007013 vasculogenic impotence MONDO:0005362 DOID:4762 DOID:1875 erectile dysfunction MONDO:0007015 viral meningitis MONDO:0004796 DOID:10310 DOID:9471 infectious meningitis MONDO:0007017 vitreous detachment MONDO:0004860 DOID:9726 DOID:9720 vitreous disorder MONDO:0007018 vulvitis MONDO:0002187 DOID:3901 DOID:2059 vulvar disease MONDO:0007020 Wernicke encephalopathy MONDO:0005560 DOID:2384 DOID:936 brain disorder MONDO:0007022 xanthogranulomatous pyelonephritis MONDO:0001110 DOID:11401 DOID:1076 chronic pyelonephritis MONDO:0007027 metabolic dysfunction-associated steatohepatitis MONDO:0013209 DOID:0080547 DOID:0080208 metabolic dysfunction-associated steatotic liver disease MONDO:0007029 branchio-oto-renal syndrome MONDO:0000426 DOID:14702 DOID:0050736 autosomal dominant disease MONDO:0007029 branchio-oto-renal syndrome MONDO:0002254 DOID:14702 DOID:225 syndromic disease MONDO:0007030 autosomal dominant Aarskog syndrome MONDO:0000426 DOID:0111825 DOID:0050736 autosomal dominant disease MONDO:0007030 autosomal dominant Aarskog syndrome MONDO:0021005 DOID:0111825 DOID:0111824 faciodigitogenital syndrome MONDO:0007032 prune belly syndrome MONDO:0002254 DOID:0060889 DOID:225 syndromic disease MONDO:0007033 abducens nerve palsy MONDO:0002782 DOID:10865 DOID:3817 cranial nerve palsy MONDO:0007036 Achard syndrome MONDO:0002254 DOID:6686 DOID:225 syndromic disease MONDO:0007037 achondroplasia MONDO:0005516 DOID:4480 DOID:2256 osteochondrodysplasia MONDO:0007042 Saethre-Chotzen syndrome MONDO:0019796 DOID:14768 DOID:12960 acrocephalosyndactyly MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0018237 DOID:0060384 DOID:0060379 acrofacial dysostosis MONDO:0007047 punctate palmoplantar keratoderma type III MONDO:0017675 DOID:0060362 DOID:0060361 punctate palmoplantar keratoderma MONDO:0007048 acrokeratosis verruciformis MONDO:0006566 DOID:0050606 DOID:161 keratosis MONDO:0007057 Acroosteolysis dominant type MONDO:0000426 DOID:2736 DOID:0050736 autosomal dominant disease MONDO:0007060 spermatogenic failure 6 MONDO:0015746 DOID:0070167 DOID:0112312 male infertility due to globozoospermia MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0004736 DOID:0050762 DOID:9252 inborn disorder of amino acid metabolism MONDO:0007070 adiposis dolorosa MONDO:0006574 DOID:3928 DOID:3153 lipomatosis MONDO:0007072 ADULT syndrome MONDO:0000426 DOID:0050601 DOID:0050736 autosomal dominant disease MONDO:0007074 ainhum MONDO:0003900 DOID:11329 DOID:65 connective tissue disorder MONDO:0007078 pseudohypoparathyroidism type 1A MONDO:0019992 DOID:0080053 DOID:4184 pseudohypoparathyroidism MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:0019287 DOID:0111244 DOID:2121 ectodermal dysplasia syndrome MONDO:0007086 autosomal dominant Alport syndrome MONDO:0000426 DOID:0110032 DOID:0050736 autosomal dominant disease MONDO:0007086 autosomal dominant Alport syndrome MONDO:0018965 DOID:0110032 DOID:10983 Alport syndrome MONDO:0007092 amelogenesis imperfecta type 1B MONDO:0000426 DOID:0110052 DOID:0050736 autosomal dominant disease MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MONDO:0019507 DOID:0110053 DOID:2187 amelogenesis imperfecta MONDO:0007098 ACys amyloidosis MONDO:0005620 DOID:0070027 DOID:9246 cerebral amyloid angiopathy MONDO:0007108 anal canal carcinoma MONDO:0000405 DOID:6126 DOID:0050688 anal canal cancer MONDO:0007109 congenital dyserythropoietic anemia type 3 MONDO:0019403 DOID:0111399 DOID:1338 congenital dyserythropoietic anemia MONDO:0007110 Diamond-Blackfan anemia 1 MONDO:0015253 DOID:0111895 DOID:1339 Diamond-Blackfan anemia MONDO:0007111 aneurysm, intracranial berry type 1 MONDO:0016483 DOID:0080964 DOID:0060228 intracranial berry aneurysm MONDO:0007113 Angelman syndrome MONDO:0002254 DOID:1932 DOID:225 syndromic disease MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO:0006527 DOID:0060603 DOID:11156 anhidrosis MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0019287 DOID:0090119 DOID:2121 ectodermal dysplasia syndrome MONDO:0007125 ankyloglossia MONDO:0001165 DOID:0060604 DOID:10944 tongue disorder MONDO:0007138 anterior segment dysgenesis 1 MONDO:0019503 DOID:0080606 DOID:0060648 anterior segment dysgenesis MONDO:0007142 Townes-Brocks syndrome MONDO:0000426 DOID:0050887 DOID:0050736 autosomal dominant disease MONDO:0007142 Townes-Brocks syndrome MONDO:0002254 DOID:0050887 DOID:225 syndromic disease MONDO:0007147 obstructive sleep apnea syndrome MONDO:0005296 DOID:0050848 DOID:0050847 sleep apnea syndrome MONDO:0007150 arcus senilis MONDO:0001515 DOID:11342 DOID:1237 corneal degeneration MONDO:0007157 arthrogryposis, distal, type 1A MONDO:0015240 DOID:0111597 DOID:0111596 digitotalar dysmorphism MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO:0019942 DOID:0111608 DOID:0050646 distal arthrogryposis MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:0019942 DOID:0111609 DOID:0050646 distal arthrogryposis MONDO:0007160 Stickler syndrome type 1 MONDO:0019354 DOID:0080676 DOID:0080046 Stickler syndrome MONDO:0007161 spermatogenic failure 2 MONDO:0004983 DOID:0070164 DOID:0111910 spermatogenic failure MONDO:0007163 episodic ataxia type 2 MONDO:0016227 DOID:0050990 DOID:963 hereditary episodic ataxia MONDO:0007172 atrial septal defect 1 MONDO:0006664 DOID:0110106 DOID:1882 atrial septal defect MONDO:0007173 atrial septal defect 7 MONDO:0006664 DOID:0110112 DOID:1882 atrial septal defect MONDO:0007174 Lown-Ganong-Levine syndrome MONDO:0002254 DOID:13087 DOID:225 syndromic disease MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0000426 DOID:0070365 DOID:0050736 autosomal dominant disease MONDO:0007193 primary biliary cholangitis 1 MONDO:0005388 DOID:0070358 DOID:12236 primary biliary cholangitis MONDO:0007194 familial bicuspid aortic valve MONDO:0003803 DOID:0080332 DOID:62 aortic valve disorder MONDO:0007197 bladder diverticulum MONDO:0006026 DOID:11353 DOID:365 urinary bladder disorder MONDO:0007208 Boomerang dysplasia MONDO:0005516 DOID:0050680 DOID:2256 osteochondrodysplasia MONDO:0007211 brachydactyly-arterial hypertension syndrome MONDO:0002254 DOID:0111247 DOID:225 syndromic disease MONDO:0007213 Ballard syndrome MONDO:0021004 DOID:0110963 DOID:0050581 brachydactyly MONDO:0007215 brachydactyly type A1 MONDO:0021004 DOID:0110964 DOID:0050581 brachydactyly MONDO:0007216 brachydactyly type A2 MONDO:0021004 DOID:0110965 DOID:0050581 brachydactyly MONDO:0007217 brachydactyly type A3 MONDO:0021004 DOID:0110966 DOID:0050581 brachydactyly MONDO:0007218 brachydactyly type A4 MONDO:0021004 DOID:0110967 DOID:0050581 brachydactyly MONDO:0007219 Osebold-Remondini syndrome MONDO:0021004 DOID:0110968 DOID:0050581 brachydactyly MONDO:0007221 brachydactyly type C MONDO:0021004 DOID:0110970 DOID:0050581 brachydactyly MONDO:0007222 brachydactyly type D MONDO:0021004 DOID:0110971 DOID:0050581 brachydactyly MONDO:0007235 branchiooculofacial syndrome MONDO:0000426 DOID:0050691 DOID:0050736 autosomal dominant disease MONDO:0007236 branchiootorenal syndrome 1 MONDO:0007029 DOID:0111423 DOID:14702 branchio-oto-renal syndrome MONDO:0007240 progressive familial heart block, type 1A MONDO:0019490 DOID:0111074 DOID:0111073 progressive familial heart block MONDO:0007243 Burkitt lymphoma MONDO:0004949 DOID:8584 DOID:706 neoplasm of mature B-cells MONDO:0007244 Caffey disease MONDO:0002614 DOID:4257 DOID:3342 bone inflammation disease MONDO:0007251 campomelic dysplasia MONDO:0005516 DOID:0050463 DOID:2256 osteochondrodysplasia MONDO:0007252 Gordon syndrome MONDO:0019942 DOID:0111607 DOID:0050646 distal arthrogryposis MONDO:0007265 cardiofaciocutaneous syndrome 1 MONDO:0015280 DOID:0111460 DOID:0060233 cardiofaciocutaneous syndrome MONDO:0007266 hypertrophic cardiomyopathy 2 MONDO:0024573 DOID:0110308 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0007267 hypertrophic cardiomyopathy 3 MONDO:0024573 DOID:0110309 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0007268 hypertrophic cardiomyopathy 4 MONDO:0024573 DOID:0110310 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0007275 carpal tunnel syndrome MONDO:0003615 DOID:12169 DOID:573 nerve compression syndrome MONDO:0007281 cataract 4 multiple types MONDO:0005129 DOID:0110234 DOID:83 cataract MONDO:0007282 cataract 29 MONDO:0005129 DOID:0110232 DOID:83 cataract MONDO:0007285 cataract 1 multiple types MONDO:0005129 DOID:0110231 DOID:83 cataract MONDO:0007293 leukocyte adhesion deficiency 1 MONDO:0017570 DOID:0110910 DOID:6612 leukocyte adhesion deficiency MONDO:0007297 ADan amyloidosis MONDO:0005620 DOID:0070030 DOID:9246 cerebral amyloid angiopathy MONDO:0007301 cerebrocostomandibular syndrome MONDO:0002254 DOID:0111248 DOID:225 syndromic disease MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant MONDO:0001029 DOID:0080589 DOID:10426 Klippel-Feil syndrome MONDO:0007307 Charcot-Marie-Tooth disease type 1B MONDO:0019011 DOID:0110152 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 MONDO:0018993 DOID:0110154 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0007309 Charcot-Marie-Tooth disease type 1A MONDO:0019011 DOID:0110148 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0007311 Charcot-Marie-Tooth disease type 1E MONDO:0019011 DOID:0110153 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0007315 cherubism MONDO:0000426 DOID:1856 DOID:0050736 autosomal dominant disease MONDO:0007321 autosomal dominant chondrodysplasia punctata MONDO:0000426 DOID:0060293 DOID:0050736 autosomal dominant disease MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase MONDO:0018637 DOID:0111419 DOID:0111417 familial chylomicronemia syndrome MONDO:0007335 orofacial cleft 1 MONDO:0000358 DOID:0080395 DOID:0050567 orofacial cleft MONDO:0007336 isolated cleft palate MONDO:0016064 DOID:0110213 DOID:674 cleft palate MONDO:0007338 cleft soft palate MONDO:0016064 DOID:0110214 DOID:674 cleft palate MONDO:0007339 blepharocheilodontic syndrome MONDO:0000426 DOID:0080344 DOID:0050736 autosomal dominant disease MONDO:0007340 cleidocranial dysplasia 1 MONDO:0005516 DOID:13994 DOID:2256 osteochondrodysplasia MONDO:0007349 familial cold autoinflammatory syndrome 1 MONDO:0018768 DOID:0090062 DOID:0090061 familial cold autoinflammatory syndrome MONDO:0007352 renal coloboma syndrome MONDO:0000426 DOID:0090006 DOID:0050736 autosomal dominant disease MONDO:0007352 renal coloboma syndrome MONDO:0002254 DOID:0090006 DOID:225 syndromic disease MONDO:0007354 coloboma of optic nerve MONDO:0001834 DOID:11975 DOID:1393 visual pathway disorder MONDO:0007362 cone-rod dystrophy 2 MONDO:0015993 DOID:0111005 DOID:0050572 cone-rod dystrophy MONDO:0007363 congenital contractural arachnodactyly MONDO:0019942 DOID:0111595 DOID:0050646 distal arthrogryposis MONDO:0007367 febrile seizures, familial, 1 MONDO:0000032 DOID:0111307 DOID:0111297 febrile seizures, familial MONDO:0007369 hereditary coproporphyria MONDO:0002520 DOID:13269 DOID:3133 hepatic porphyria MONDO:0007374 Schnyder corneal dystrophy MONDO:0020213 DOID:0060456 DOID:0060442 stromal corneal dystrophy MONDO:0007375 epithelial basement membrane dystrophy MONDO:0000763 DOID:0060447 DOID:0060440 epithelial and subepithelial corneal dystrophy MONDO:0007376 fleck corneal dystrophy MONDO:0020213 DOID:0060448 DOID:0060442 stromal corneal dystrophy MONDO:0007378 posterior polymorphous corneal dystrophy 1 MONDO:0020364 DOID:0110855 DOID:0060457 posterior polymorphous corneal dystrophy MONDO:0007379 Meesmann corneal dystrophy MONDO:0000763 DOID:0060451 DOID:0060440 epithelial and subepithelial corneal dystrophy MONDO:0007387 Cornelia de Lange syndrome 1 MONDO:0016033 DOID:0080505 DOID:11725 Cornelia de Lange syndrome MONDO:0007389 spondylocostal dysostosis 5 MONDO:0000359 DOID:0112363 DOID:0050568 spondylocostal dysostosis MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant MONDO:0015465 DOID:0080801 DOID:0080033 craniometaphyseal dysplasia MONDO:0007404 Cri-du-chat syndrome MONDO:0002254 DOID:12580 DOID:225 syndromic disease MONDO:0007410 isolated cryptophthalmia MONDO:0020153 DOID:0111717 DOID:0111716 cryptophthalmia MONDO:0007411 cutis laxa, autosomal dominant 1 MONDO:0019571 DOID:0070130 DOID:0070142 autosomal dominant cutis laxa MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0000426 DOID:0050660 DOID:0050736 autosomal dominant disease MONDO:0007416 Balkan nephropathy MONDO:0001085 DOID:3052 DOID:1063 interstitial nephritis MONDO:0007420 autosomal dominant deafness - onychodystrophy syndrome MONDO:0002254 DOID:0080720 DOID:225 syndromic disease MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 MONDO:0019587 DOID:0110541 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0007445 dermatopathia pigmentosa reticularis MONDO:0019287 DOID:0111342 DOID:2121 ectodermal dysplasia syndrome MONDO:0007446 dermatosis papulosa nigra MONDO:0002406 DOID:4400 DOID:2723 dermatitis MONDO:0007448 familial dermatographia MONDO:0006599 DOID:743 DOID:0060220 physical urticaria MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:0000426 DOID:12388 DOID:0050736 autosomal dominant disease MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:0015790 DOID:12388 DOID:0081055 central diabetes insipidus MONDO:0007451 diabetes insipidus, nephrogenic, autosomal MONDO:0016383 DOID:0081061 DOID:12387 nephrogenic diabetes insipidus MONDO:0007452 maturity-onset diabetes of the young type 1 MONDO:0018911 DOID:0111099 DOID:0050524 maturity-onset diabetes of the young MONDO:0007453 maturity-onset diabetes of the young type 2 MONDO:0018911 DOID:0111100 DOID:0050524 maturity-onset diabetes of the young MONDO:0007471 Doyne honeycomb retinal dystrophy MONDO:0006949 DOID:0060745 DOID:2569 retinal drusen MONDO:0007472 basal laminar drusen MONDO:0006949 DOID:0060746 DOID:2569 retinal drusen MONDO:0007477 3-M syndrome MONDO:0002254 DOID:0060241 DOID:225 syndromic disease MONDO:0007477 3-M syndrome MONDO:0006025 DOID:0060241 DOID:0050737 autosomal recessive disease MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:0000426 DOID:0080723 DOID:0050736 autosomal dominant disease MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:0016516 DOID:0080723 DOID:0080724 Kenny-Caffey syndrome MONDO:0007481 Leri-Weill dyschondrosteosis MONDO:0005516 DOID:0060847 DOID:2256 osteochondrodysplasia MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 MONDO:0015780 DOID:0070014 DOID:2729 dyskeratosis congenita MONDO:0007508 Rapp-Hodgkin syndrome MONDO:0000426 DOID:0060330 DOID:0050736 autosomal dominant disease MONDO:0007508 Rapp-Hodgkin syndrome MONDO:0019287 DOID:0060330 DOID:2121 ectodermal dysplasia syndrome MONDO:0007510 Clouston syndrome MONDO:0019287 DOID:14693 DOID:2121 ectodermal dysplasia syndrome MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant MONDO:0015998 DOID:0111150 DOID:0111148 isolated ectopia lentis MONDO:0007520 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 MONDO:0010004 DOID:0060784 DOID:0060782 EEC syndrome MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0020066 DOID:14757 DOID:13359 Ehlers-Danlos syndrome MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type MONDO:0000426 DOID:14756 DOID:0050736 autosomal dominant disease MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0020066 DOID:0050802 DOID:13359 Ehlers-Danlos syndrome MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0000426 DOID:10017 DOID:0050736 autosomal dominant disease MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017169 DOID:10017 DOID:3125 multiple endocrine neoplasia MONDO:0007548 transient bullous dermolysis of the newborn MONDO:0006543 DOID:0111345 DOID:4959 epidermolysis bullosa dystrophica MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa MONDO:0006543 DOID:0080224 DOID:4959 epidermolysis bullosa dystrophica MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe MONDO:0017610 DOID:0060735 DOID:4644 epidermolysis bullosa simplex MONDO:0007551 epidermolysis bullosa simplex 1C, localized MONDO:0017610 DOID:0080510 DOID:4644 epidermolysis bullosa simplex MONDO:0007552 pretibial dystrophic epidermolysis bullosa MONDO:0006543 DOID:0080988 DOID:4959 epidermolysis bullosa dystrophica MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate MONDO:0017610 DOID:0080511 DOID:4644 epidermolysis bullosa simplex MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type MONDO:0017610 DOID:0060736 DOID:4644 epidermolysis bullosa simplex MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation MONDO:0017610 DOID:0111346 DOID:4644 epidermolysis bullosa simplex MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 DOID:0070303 DOID:12721 multiple epiphyseal dysplasia MONDO:0007564 pilomatrixoma MONDO:0003413 DOID:5374 DOID:5375 hair follicle neoplasm MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0001115 DOID:0060652 DOID:10780 familial polycythemia MONDO:0007576 esophageal cancer MONDO:0002516 DOID:5041 DOID:3119 digestive system cancer MONDO:0007603 Felty syndrome MONDO:0002254 DOID:11042 DOID:225 syndromic disease MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0001584 DOID:0080143 DOID:1279 ocular motility disease MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0015452 DOID:0070042 DOID:1925 Coffin-Siris syndrome MONDO:0007619 isolated congenital adermatoglyphia MONDO:0000426 DOID:0111357 DOID:0050736 autosomal dominant disease MONDO:0007630 North Carolina macular dystrophy MONDO:0031166 DOID:0070439 DOID:0070438 macular dystrophy, retinal MONDO:0007635 Frasier syndrome MONDO:0000426 DOID:0050438 DOID:0050736 autosomal dominant disease MONDO:0007635 Frasier syndrome MONDO:0002254 DOID:0050438 DOID:225 syndromic disease MONDO:0007636 frontorhiny MONDO:0016643 DOID:0081045 DOID:0081044 frontonasal dysplasia MONDO:0007640 Sorsby fundus dystrophy MONDO:0019118 DOID:0090114 DOID:8500 inherited retinal dystrophy MONDO:0007646 Gamstorp-Wohlfart syndrome MONDO:0002254 DOID:0050526 DOID:225 syndromic disease MONDO:0007650 MALT lymphoma MONDO:0017604 DOID:0050909 DOID:0050748 marginal zone lymphoma MONDO:0007652 gastric mucosal hypertrophy MONDO:0004966 DOID:8757 DOID:4029 gastritis MONDO:0007655 fissured tongue MONDO:0001165 DOID:11514 DOID:10944 tongue disorder MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome MONDO:0005429 DOID:4249 DOID:649 prion disease MONDO:0007661 Tourette syndrome MONDO:0002420 DOID:11119 DOID:2769 tic disorder MONDO:0007669 renal cysts and diabetes syndrome MONDO:0018911 DOID:0111101 DOID:0050524 maturity-onset diabetes of the young MONDO:0007686 gray platelet syndrome MONDO:0000009 DOID:0111044 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0007690 aromatase excess syndrome MONDO:0005039 DOID:0090122 DOID:15 reproductive system disorder MONDO:0007698 hand-foot-genital syndrome MONDO:0000426 DOID:0060739 DOID:0050736 autosomal dominant disease MONDO:0007698 hand-foot-genital syndrome MONDO:0002254 DOID:0060739 DOID:225 syndromic disease MONDO:0007701 progressive familial heart block type II MONDO:0019490 DOID:0111075 DOID:0111073 progressive familial heart block MONDO:0007710 facial hemiatrophy MONDO:0002098 DOID:1757 DOID:1756 facial nerve disorder MONDO:0007718 hepatic adenomas, familial MONDO:0018902 DOID:0111366 DOID:0050868 hepatocellular adenoma MONDO:0007721 hiatus hernia MONDO:0004298 DOID:12642 DOID:76 stomach disorder MONDO:0007729 developmental dysplasia of the hip 1 MONDO:0000158 DOID:0060931 DOID:0060930 developmental dysplasia of the hip MONDO:0007732 Holt-Oram syndrome MONDO:0000426 DOID:0060468 DOID:0050736 autosomal dominant disease MONDO:0007733 holoprosencephaly 3 MONDO:0016296 DOID:0110875 DOID:4621 holoprosencephaly MONDO:0007734 holoprosencephaly 4 MONDO:0016296 DOID:0110880 DOID:4621 holoprosencephaly MONDO:0007737 humeroradial synostosis MONDO:0001411 DOID:0060467 DOID:11971 synostosis MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MONDO:0016761 DOID:0050813 DOID:0112280 spondyloepiphyseal dysplasia MONDO:0007745 Gilbert syndrome MONDO:0002408 DOID:2739 DOID:2741 hereditary hyperbilirubinemia MONDO:0007747 isolated hyperchlorhidrosis MONDO:0006025 DOID:0111371 DOID:0050737 autosomal recessive disease MONDO:0007753 Frey syndrome MONDO:0001292 DOID:11599 DOID:11465 autonomic nervous system disorder MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 MONDO:0968949 DOID:0070552 DOID:0080223 palmoplantar keratoderma, epidermolytic MONDO:0007762 hyperlipoproteinemia type V MONDO:0001336 DOID:1171 DOID:1168 familial hyperlipidemia MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO:0002185 DOID:0080037 DOID:205 hyperostosis MONDO:0007784 selective pituitary resistance to thyroid hormone MONDO:0004425 DOID:0111374 DOID:7998 hyperthyroidism MONDO:0007785 hyperthyroxinemia, dystransthyretinemic MONDO:0005333 DOID:0080219 DOID:2855 hyperthyroxinemia MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0015626 DOID:0050540 DOID:10595 Charcot-Marie-Tooth disease MONDO:0007791 familial hypocalciuric hypercalcemia 1 MONDO:0018458 DOID:0060700 DOID:0060699 familial hypocalciuric hypercalcemia MONDO:0007792 familial hypocalciuric hypercalcemia 2 MONDO:0018458 DOID:0060701 DOID:0060699 familial hypocalciuric hypercalcemia MONDO:0007793 hypochondroplasia MONDO:0005516 DOID:0080041 DOID:2256 osteochondrodysplasia MONDO:0007803 multiple system atrophy MONDO:0000510 DOID:4752 DOID:0050890 synucleinopathy MONDO:0007804 Pallister-Hall syndrome MONDO:0002254 DOID:9248 DOID:225 syndromic disease MONDO:0007805 hypotrichosis 2 MONDO:0003037 DOID:0110699 DOID:4535 hypotrichosis MONDO:0007810 autosomal dominant ichthyosis vulgaris MONDO:0000426 DOID:1702 DOID:0050736 autosomal dominant disease MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0000426 DOID:3261 DOID:0050736 autosomal dominant disease MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0018037 DOID:3261 DOID:0080545 hyper-IgE syndrome MONDO:0007827 inclusion body myositis MONDO:0021167 DOID:3429 DOID:633 myositis disease MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 MONDO:0100429 DOID:0070228 DOID:0070227 intrahepatic cholestasis of pregnancy MONDO:0007835 intussusception MONDO:0004565 DOID:8446 DOID:8437 intestinal obstruction MONDO:0007848 autosomal dominant keratitis MONDO:0000426 DOID:0111383 DOID:0050736 autosomal dominant disease MONDO:0007848 autosomal dominant keratitis MONDO:0003085 DOID:0111383 DOID:4677 keratitis MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:0000426 DOID:0060871 DOID:0050736 autosomal dominant disease MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO:0002254 DOID:0111506 DOID:225 syndromic disease MONDO:0007862 Waardenburg syndrome type 3 MONDO:0018094 DOID:0110949 DOID:9258 Waardenburg syndrome MONDO:0007863 Kleine-Levin syndrome MONDO:0004617 DOID:0060165 DOID:8619 recurrent hypersomnia MONDO:0007864 angioosteohypertrophic syndrome MONDO:0002254 DOID:2926 DOID:225 syndromic disease MONDO:0007867 nonsyndromic congenital nail disorder 2 MONDO:0019284 DOID:0080080 DOID:0080683 inherited isolated nail anomaly MONDO:0007868 hyperekplexia 1 MONDO:0021022 DOID:0060696 DOID:0060695 hereditary hyperekplexia MONDO:0007872 LADD syndrome MONDO:0000426 DOID:0050331 DOID:0050736 autosomal dominant disease MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0000426 DOID:4998 DOID:0050736 autosomal dominant disease MONDO:0007875 Larsen syndrome MONDO:0000426 DOID:14764 DOID:0050736 autosomal dominant disease MONDO:0007878 congenital laryngomalacia MONDO:0004382 DOID:0080833 DOID:786 laryngeal disorder MONDO:0007885 Legg-Calve-Perthes disease MONDO:0018381 DOID:14415 DOID:8125 osteochondrosis MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:0002254 DOID:0111507 DOID:225 syndromic disease MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0000426 DOID:14291 DOID:0050736 autosomal dominant disease MONDO:0007896 acute monocytic leukemia MONDO:0004600 DOID:8864 DOID:8527 monocytic leukemia MONDO:0007900 nonsyndromic congenital nail disorder 3 MONDO:0019284 DOID:0080081 DOID:0080683 inherited isolated nail anomaly MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0020088 DOID:0070202 DOID:0050440 familial partial lipodystrophy MONDO:0007908 multiple symmetric lipomatosis MONDO:0006574 DOID:14116 DOID:3153 lipomatosis MONDO:0007915 systemic lupus erythematosus MONDO:0004670 DOID:9074 DOID:8857 lupus erythematosus MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability MONDO:0002254 DOID:0060349 DOID:225 syndromic disease MONDO:0007919 lymphatic malformation 1 MONDO:0019313 DOID:0070210 DOID:0050580 lymphatic malformation MONDO:0007919 lymphatic malformation 1 MONDO:0019313 DOID:0070212 DOID:0050580 lymphatic malformation MONDO:0007920 lymphatic malformation 5 MONDO:0019313 DOID:0070213 DOID:0050580 lymphatic malformation MONDO:0007921 yellow nail syndrome MONDO:0002254 DOID:0050468 DOID:225 syndromic disease MONDO:0007922 lymphedema-distichiasis syndrome MONDO:0002254 DOID:0111509 DOID:225 syndromic disease MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0000426 DOID:0050657 DOID:0050736 autosomal dominant disease MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant MONDO:0009276 DOID:0111059 DOID:2217 Bernard-Soulier syndrome MONDO:0007932 age related macular degeneration 2 MONDO:0005150 DOID:0110015 DOID:10871 age-related macular degeneration MONDO:0007935 cystoid macular edema MONDO:0003005 DOID:4447 DOID:4449 macular retinal edema MONDO:0007938 46,XY sex reversal 4 MONDO:0010765 DOID:0111771 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0007944 Treacher Collins syndrome 1 MONDO:0002457 DOID:0080789 DOID:2908 Treacher-Collins syndrome MONDO:0007946 jaw-winking syndrome MONDO:0003569 DOID:560 DOID:5656 cranial nerve neuropathy MONDO:0007949 Marshall syndrome MONDO:0019287 DOID:0111510 DOID:2121 ectodermal dysplasia syndrome MONDO:0007950 mastocytosis MONDO:0004805 DOID:350 DOID:9500 leukocyte disorder MONDO:0007953 Binder syndrome MONDO:0002232 DOID:14683 DOID:2163 nasal cavity disorder MONDO:0007958 familial medullary thyroid carcinoma MONDO:0015277 DOID:0050547 DOID:3973 medullary thyroid gland carcinoma MONDO:0007959 medulloblastoma MONDO:0002913 DOID:0060104 DOID:4205 cerebellar neoplasm MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0000426 DOID:10041 DOID:0050736 autosomal dominant disease MONDO:0007969 Melkersson-Rosenthal syndrome MONDO:0002098 DOID:1761 DOID:1756 facial nerve disorder MONDO:0007972 Meniere disease MONDO:0006744 DOID:9849 DOID:9848 endolymphatic hydrops MONDO:0007987 Kniest dysplasia MONDO:0005516 DOID:0080045 DOID:2256 osteochondrodysplasia MONDO:0007988 autosomal dominant primary microcephaly MONDO:0000426 DOID:14725 DOID:0050736 autosomal dominant disease MONDO:0007990 multiple benign circumferential skin creases on limbs MONDO:0005093 DOID:0112241 DOID:37 skin disorder MONDO:0007999 holoprosencephaly 2 MONDO:0016296 DOID:0110872 DOID:4621 holoprosencephaly MONDO:0008006 Mobius syndrome MONDO:0002098 DOID:13501 DOID:1756 facial nerve disorder MONDO:0008007 tooth ankylosis MONDO:0002220 DOID:12661 DOID:214 tooth hard tissue disease MONDO:0008007 tooth ankylosis MONDO:0002257 DOID:12661 DOID:227 ankylosis MONDO:0008009 monilethrix MONDO:0000426 DOID:0050472 DOID:0050736 autosomal dominant disease MONDO:0008015 motion sickness MONDO:0002467 DOID:2951 DOID:2952 inner ear disorder MONDO:0008016 trismus-pseudocamptodactyly syndrome MONDO:0019942 DOID:0111603 DOID:0050646 distal arthrogryposis MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO:0018190 DOID:0070351 DOID:0070348 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0008029 Bethlem myopathy MONDO:0019950 DOID:0050663 DOID:0050557 congenital muscular dystrophy MONDO:0008030 facioscapulohumeral muscular dystrophy 1 MONDO:0001347 DOID:0111192 DOID:11727 facioscapulohumeral muscular dystrophy MONDO:0008031 facioscapulohumeral muscular dystrophy 2 MONDO:0001347 DOID:0111193 DOID:11727 facioscapulohumeral muscular dystrophy MONDO:0008040 transient myeloproliferative syndrome MONDO:0020076 DOID:0060888 DOID:2226 myeloproliferative neoplasm MONDO:0008044 myoclonic dystonia 11 MONDO:0000903 DOID:0090034 DOID:0090033 myoclonus-dystonia syndrome MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome MONDO:0001516 DOID:0111527 DOID:12377 spinal muscular atrophy MONDO:0008047 episodic ataxia type 1 MONDO:0016227 DOID:0050989 DOID:963 hereditary episodic ataxia MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0000426 DOID:0111217 DOID:0050736 autosomal dominant disease MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0018947 DOID:0111217 DOID:14717 centronuclear myopathy MONDO:0008049 myopathy, distal, infantile-onset MONDO:0018949 DOID:0070196 DOID:11720 distal myopathy MONDO:0008050 MYH7-related skeletal myopathy MONDO:0018949 DOID:0070197 DOID:11720 distal myopathy MONDO:0008054 juvenile dermatomyositis MONDO:0016367 DOID:14203 DOID:10223 dermatomyositis MONDO:0008055 myotonia congenita, autosomal dominant MONDO:0009710 DOID:0081336 DOID:2106 Thomsen and Becker disease MONDO:0008056 myotonic dystrophy type 1 MONDO:0016107 DOID:11722 DOID:450 myotonic dystrophy MONDO:0008058 cylindrical spirals myopathy MONDO:0019952 DOID:0080103 DOID:0081337 congenital myopathy MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome MONDO:0019287 DOID:0111528 DOID:2121 ectodermal dysplasia syndrome MONDO:0008060 nonsyndromic congenital nail disorder 1 MONDO:0019284 DOID:0080079 DOID:0080683 inherited isolated nail anomaly MONDO:0008061 nail-patella syndrome MONDO:0000426 DOID:9467 DOID:0050736 autosomal dominant disease MONDO:0008061 nail-patella syndrome MONDO:0002254 DOID:9467 DOID:225 syndromic disease MONDO:0008076 amyotrophic neuralgia MONDO:0006683 DOID:10383 DOID:3690 brachial plexus neuropathy MONDO:0008078 neurofibromatosis, familial spinal MONDO:0018975 DOID:0070482 DOID:0111253 neurofibromatosis type 1 MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0000426 DOID:10016 DOID:0050736 autosomal dominant disease MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A MONDO:0018213 DOID:0070152 DOID:0070162 hereditary sensory and autonomic neuropathy type 1 MONDO:0008092 hereditary neutrophilia MONDO:0004805 DOID:0090120 DOID:9500 leukocyte disorder MONDO:0008099 congenital stationary night blindness autosomal dominant 2 MONDO:0016293 DOID:0110863 DOID:0050534 congenital stationary night blindness MONDO:0008104 Noonan syndrome 1 MONDO:0018997 DOID:0060578 DOID:3490 Noonan syndrome MONDO:0008106 nystagmus 2, congenital, autosomal dominant MONDO:0005712 DOID:0111792 DOID:9649 congenital nystagmus MONDO:0008114 obsessive-compulsive disorder MONDO:0005618 DOID:10933 DOID:2030 anxiety disorder MONDO:0008123 autosomal dominant omodysplasia MONDO:0000426 DOID:0080845 DOID:0050736 autosomal dominant disease MONDO:0008123 autosomal dominant omodysplasia MONDO:0017136 DOID:0080845 DOID:0060288 omodysplasia MONDO:0008125 nonsyndromic congenital nail disorder 5 MONDO:0019284 DOID:0080083 DOID:0080683 inherited isolated nail anomaly MONDO:0008132 optic atrophy with demyelinating disease of CNS MONDO:0020478 DOID:0111756 DOID:0111754 Leber plus disease MONDO:0008137 orofaciodigital syndrome X MONDO:0015375 DOID:0060380 DOID:4501 orofaciodigital syndrome MONDO:0008157 Buschke-Ollendorff syndrome MONDO:0002254 DOID:0111536 DOID:225 syndromic disease MONDO:0008164 otosclerosis 1 MONDO:0005349 DOID:0060920 DOID:12185 otosclerosis MONDO:0008167 dermoid cyst of ovary MONDO:0002378 DOID:5117 DOID:2658 dermoid cyst MONDO:0008170 ovarian cancer MONDO:0001416 DOID:2394 DOID:120 female reproductive organ cancer MONDO:0008171 nephrolithiasis MONDO:0005240 DOID:585 DOID:557 kidney disorder MONDO:0008176 Paget disease of bone 3 MONDO:0005382 DOID:0081366 DOID:5408 bone Paget disease MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 MONDO:0000507 DOID:0111385 DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0008183 annular pancreas MONDO:0002356 DOID:0060850 DOID:26 pancreas disorder MONDO:0008199 late-onset Parkinson disease MONDO:0005180 DOID:0060892 DOID:14330 Parkinson disease MONDO:0008200 autosomal dominant Parkinson disease 1 MONDO:0008199 DOID:0060367 DOID:0060892 late-onset Parkinson disease MONDO:0008201 Perry syndrome MONDO:0002254 DOID:0060486 DOID:225 syndromic disease MONDO:0008207 chondromalacia patellae MONDO:0002342 DOID:13357 DOID:2557 chondromalacia MONDO:0008209 Char syndrome MONDO:0011827 DOID:0060563 DOID:13832 patent ductus arteriosus MONDO:0008210 patterned macular dystrophy 1 MONDO:0020381 DOID:0060866 DOID:0060863 patterned macular dystrophy MONDO:0008214 Pelger-Huet anomaly MONDO:0000426 DOID:9631 DOID:0050736 autosomal dominant disease MONDO:0008218 Hailey-Hailey disease MONDO:0006594 DOID:0050429 DOID:9182 pemphigus MONDO:0008219 pemphigus vulgaris MONDO:0006594 DOID:0060851 DOID:9182 pemphigus MONDO:0008223 hypokalemic periodic paralysis MONDO:0000995 DOID:14452 DOID:1029 familial periodic paralysis MONDO:0008224 hyperkalemic periodic paralysis MONDO:0000995 DOID:14451 DOID:1029 familial periodic paralysis MONDO:0008228 pernicious anemia MONDO:0006873 DOID:13381 DOID:5113 nutritional deficiency disease MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0000426 DOID:0050430 DOID:0050736 autosomal dominant disease MONDO:0008243 Pick disease MONDO:0017276 DOID:11870 DOID:9255 frontotemporal dementia MONDO:0008244 piebaldism MONDO:0000426 DOID:3263 DOID:0050736 autosomal dominant disease MONDO:0008250 isolated growth hormone deficiency type II MONDO:0000050 DOID:0060872 DOID:0060870 isolated congenital growth hormone deficiency MONDO:0008259 familial spontaneous pneumothorax MONDO:0002076 DOID:0080218 DOID:1673 pneumothorax MONDO:0008263 polycystic kidney disease 1 MONDO:0004691 DOID:0110858 DOID:898 autosomal dominant polycystic kidney disease MONDO:0008265 polycystic liver disease 1 MONDO:0000447 DOID:0060980 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0008267 orofaciodigital syndrome V MONDO:0015375 DOID:0060375 DOID:4501 orofaciodigital syndrome MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO:0000426 DOID:0050787 DOID:0050736 autosomal dominant disease MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies MONDO:0020496 DOID:0090125 DOID:0112313 familial porencephaly MONDO:0008292 punctate palmoplantar keratoderma type 2 MONDO:0017675 DOID:0080213 DOID:0060361 punctate palmoplantar keratoderma MONDO:0008294 acute intermittent porphyria MONDO:0002520 DOID:3890 DOID:3133 hepatic porphyria MONDO:0008297 variegate porphyria MONDO:0002520 DOID:4346 DOID:3133 hepatic porphyria MONDO:0008300 Prader-Willi syndrome MONDO:0002254 DOID:11983 DOID:225 syndromic disease MONDO:0008300 Prader-Willi syndrome MONDO:0019040 DOID:11983 DOID:0080014 chromosomal disorder MONDO:0008301 Guttmacher syndrome MONDO:0002254 DOID:0111544 DOID:225 syndromic disease MONDO:0008302 central precocious puberty 1 MONDO:0019165 DOID:0112310 DOID:0112308 central precocious puberty MONDO:0008305 Currarino triad MONDO:0002254 DOID:0111546 DOID:225 syndromic disease MONDO:0008306 ABri amyloidosis MONDO:0005620 DOID:0070029 DOID:9246 cerebral amyloid angiopathy MONDO:0008315 prostate cancer MONDO:0005836 DOID:10283 DOID:3856 male reproductive organ cancer MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant MONDO:0019145 DOID:0111909 DOID:3756 hereditary thrombophilia due to congenital protein C deficiency MONDO:0008318 Proteus syndrome MONDO:0017623 DOID:13482 DOID:0080191 PTEN hamartoma tumor syndrome MONDO:0008322 pseudoachondroplasia MONDO:0005516 DOID:0080047 DOID:2256 osteochondrodysplasia MONDO:0008323 Liddle syndrome MONDO:0006510 DOID:0050477 DOID:447 renal tubular transport disease MONDO:0008327 exfoliation syndrome MONDO:0001554 DOID:13641 DOID:12571 phacogenic glaucoma MONDO:0008327 exfoliation syndrome MONDO:0002289 DOID:13641 DOID:240 iris disorder MONDO:0008332 platelet-type von Willebrand disease MONDO:0000009 DOID:0111056 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:0000426 DOID:0081321 DOID:0050736 autosomal dominant disease MONDO:0008340 ptosis, hereditary congenital, 1 MONDO:0000728 DOID:0060261 DOID:0060260 ptosis MONDO:0008346 pulmonary hemosiderosis MONDO:0001436 DOID:12118 DOID:12119 hemosiderosis MONDO:0008346 pulmonary hemosiderosis MONDO:0015926 DOID:10328 DOID:10316 pneumoconiosis MONDO:0008364 Raynaud disease MONDO:0005294 DOID:10300 DOID:341 peripheral vascular disease MONDO:0008373 retinal arterial tortuosity MONDO:0000473 DOID:0111547 DOID:0050828 arterial disorder MONDO:0008374 retinal cone dystrophy type 1 MONDO:0000455 DOID:0081024 DOID:0050795 cone dystrophy MONDO:0008375 retinal detachment MONDO:0005283 DOID:5327 DOID:5679 retinal disorder MONDO:0008377 retinitis pigmentosa 1 MONDO:0019200 DOID:0110390 DOID:10584 retinitis pigmentosa MONDO:0008378 retinitis pigmentosa 9 MONDO:0019200 DOID:0110387 DOID:10584 retinitis pigmentosa MONDO:0008379 retinitis pigmentosa 10 MONDO:0019200 DOID:0110388 DOID:10584 retinitis pigmentosa MONDO:0008380 retinoblastoma MONDO:0004338 DOID:768 DOID:771 retinal cell cancer MONDO:0008381 dominant pericentral pigmentary retinopathy MONDO:0019200 DOID:0110420 DOID:10584 retinitis pigmentosa MONDO:0008383 rheumatoid arthritis MONDO:0000589 DOID:7148 DOID:0060032 autoimmune disorder of musculoskeletal system MONDO:0008383 rheumatoid arthritis MONDO:0005578 DOID:7148 DOID:848 arthritic joint disease MONDO:0008386 Axenfeld-Rieger syndrome type 1 MONDO:0019187 DOID:0110120 DOID:14686 Axenfeld-Rieger syndrome MONDO:0008397 aplasia of lacrimal and salivary glands MONDO:0002254 DOID:0111549 DOID:225 syndromic disease MONDO:0008401 pleomorphic adenoma MONDO:0000385 DOID:452 DOID:0050624 benign digestive system neoplasm MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019287 DOID:0111550 DOID:2121 ectodermal dysplasia syndrome MONDO:0008408 scapuloperoneal spinal muscular atrophy, autosomal dominant MONDO:0000426 DOID:0111552 DOID:0050736 autosomal dominant disease MONDO:0008410 Scheuermann disease MONDO:0018381 DOID:13300 DOID:8125 osteochondrosis MONDO:0008411 ulnar-mammary syndrome MONDO:0002254 DOID:0060614 DOID:225 syndromic disease MONDO:0008412 intestinal schistosomiasis MONDO:0015254 DOID:0050597 DOID:1395 schistosomiasis MONDO:0008414 schizophrenia 1 MONDO:0005090 DOID:0070077 DOID:5419 schizophrenia MONDO:0008420 seborrheic keratosis MONDO:0006566 DOID:6498 DOID:161 keratosis MONDO:0008422 autosomal dominant sideroblastic anemia MONDO:0000426 DOID:0060335 DOID:0050736 autosomal dominant disease MONDO:0008428 septooptic dysplasia MONDO:0000429 DOID:0060857 DOID:0050739 autosomal genetic disease MONDO:0008428 septooptic dysplasia MONDO:0002254 DOID:0060857 DOID:225 syndromic disease MONDO:0008433 small cell lung carcinoma MONDO:0005138 DOID:5409 DOID:3905 lung carcinoma MONDO:0008434 Smith-Magenis syndrome MONDO:0000761 DOID:0060768 DOID:0060388 syndrome caused by partial chromosomal deletion MONDO:0008436 Sneddon syndrome MONDO:0000473 DOID:13096 DOID:0050828 arterial disorder MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0019064 DOID:0110791 DOID:2476 hereditary spastic paraplegia MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0019064 DOID:0110792 DOID:2476 hereditary spastic paraplegia MONDO:0008447 hereditary spherocytosis type 1 MONDO:0019350 DOID:0110916 DOID:12971 hereditary spherocytosis MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:0015362 DOID:0111200 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant MONDO:0001516 DOID:0111194 DOID:12377 spinal muscular atrophy MONDO:0008464 split hand-foot malformation 1 MONDO:0016576 DOID:0090021 DOID:0090020 split hand-foot malformation MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy MONDO:0016761 DOID:0112286 DOID:0112280 spondyloepiphyseal dysplasia MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant MONDO:0000426 DOID:0112285 DOID:0050736 autosomal dominant disease MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant MONDO:0019667 DOID:0112285 DOID:0112284 spondyloepiphyseal dysplasia tarda MONDO:0008475 spondylolisthesis MONDO:0000836 DOID:6682 DOID:0080010 disease of bone structure MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0100510 DOID:0080028 DOID:0080027 spondyloepimetaphyseal dysplasia MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type MONDO:0016763 DOID:0111554 DOID:0112295 spondylometaphyseal dysplasia MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type MONDO:0016763 DOID:0112296 DOID:0112295 spondylometaphyseal dysplasia MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type MONDO:0016763 DOID:0112297 DOID:0112295 spondylometaphyseal dysplasia MONDO:0008485 sebocystomatosis MONDO:0006607 DOID:0111556 DOID:9098 sebaceous gland disorder MONDO:0008504 supravalvular aortic stenosis MONDO:0042981 DOID:1929 DOID:1712 aortic valve stenosis MONDO:0008511 proximal symphalangism MONDO:0000426 DOID:0050788 DOID:0050736 autosomal dominant disease MONDO:0008518 calcaneonavicular coalition MONDO:0001411 DOID:14762 DOID:11971 synostosis MONDO:0008519 multiple synostoses syndrome 1 MONDO:0017923 DOID:0081317 DOID:0050794 multiple synostoses syndrome MONDO:0008538 temporal arteritis MONDO:0003346 DOID:13375 DOID:525 central nervous system vasculitis MONDO:0008541 spermatic cord torsion MONDO:0002329 DOID:11996 DOID:2519 testicular disorder MONDO:0008542 tetralogy of fallot MONDO:0005453 DOID:6419 DOID:1682 congenital heart disease MONDO:0008552 platelet-type bleeding disorder 16 MONDO:0000009 DOID:0060691 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0008553 platelet-type bleeding disorder 17 MONDO:0000009 DOID:0111049 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0004680 DOID:8924 DOID:8925 primary thrombocytopenia MONDO:0008585 HELLP syndrome MONDO:0001641 DOID:13133 DOID:13129 severe pre-eclampsia MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 DOID:0111428 DOID:4990 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0000426 DOID:14743 DOID:0050736 autosomal dominant disease MONDO:0008599 trigeminal neuralgia MONDO:0003543 DOID:12098 DOID:561 trigeminal nerve disorder MONDO:0008610 blue color blindness MONDO:0001703 DOID:11661 DOID:13399 color vision disorder MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 DOID:0080324 DOID:13515 tuberous sclerosis MONDO:0008617 inflammatory bowel disease 11 MONDO:0005265 DOID:0110894 DOID:0050589 inflammatory bowel disease MONDO:0008627 ureter cancer MONDO:0006295 DOID:11819 DOID:3996 malignant urinary system neoplasm MONDO:0008628 ureterocele MONDO:0001926 DOID:4022 DOID:1426 ureteral disorder MONDO:0008633 Muckle-Wells syndrome MONDO:0000426 DOID:0050854 DOID:0050736 autosomal dominant disease MONDO:0008638 varicose disease MONDO:0004634 DOID:799 DOID:866 vein disorder MONDO:0008642 VACTERL/vater association MONDO:0002254 DOID:14679 DOID:225 syndromic disease MONDO:0008647 hypertrophic cardiomyopathy 1 MONDO:0024573 DOID:0110307 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0008660 autosomal dominant hypophosphatemic rickets MONDO:0000426 DOID:0050948 DOID:0050736 autosomal dominant disease MONDO:0008668 von Willebrand disease 1 MONDO:0019565 DOID:0060573 DOID:12531 hereditary von Willebrand disease MONDO:0008670 Waardenburg syndrome type 1 MONDO:0018094 DOID:0110948 DOID:9258 Waardenburg syndrome MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0018237 DOID:0111571 DOID:0060379 acrofacial dysostosis MONDO:0008675 Freeman-Sheldon syndrome MONDO:0019942 DOID:0111604 DOID:0050646 distal arthrogryposis MONDO:0008676 white sponge nevus 1 MONDO:0015748 DOID:0081287 DOID:0050448 hereditary mucosal leukokeratosis MONDO:0008678 Williams syndrome MONDO:0002254 DOID:1928 DOID:225 syndromic disease MONDO:0008682 Denys-Drash syndrome MONDO:0000426 DOID:3764 DOID:0050736 autosomal dominant disease MONDO:0008682 Denys-Drash syndrome MONDO:0002254 DOID:3764 DOID:225 syndromic disease MONDO:0008685 Wolff-Parkinson-White syndrome MONDO:0000992 DOID:384 DOID:10273 heart conduction disease MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema MONDO:0017910 DOID:0111576 DOID:0111575 dehydrated hereditary stomatocytosis MONDO:0008693 ablepharon macrostomia syndrome MONDO:0002254 DOID:0060550 DOID:225 syndromic disease MONDO:0008695 chorea-acanthocytosis MONDO:0016987 DOID:0050766 DOID:0050765 neuroacanthocytosis MONDO:0008698 achalasia MONDO:0003749 DOID:9164 DOID:6050 esophageal disorder MONDO:0008699 achalasia microcephaly syndrome MONDO:0006025 DOID:0050796 DOID:0050737 autosomal recessive disease MONDO:0008700 acheiropody MONDO:0005516 DOID:0050603 DOID:2256 osteochondrodysplasia MONDO:0008701 achondrogenesis type IA MONDO:0019648 DOID:0080054 DOID:0080043 achondrogenesis MONDO:0008702 achondrogenesis type II MONDO:0019648 DOID:0080056 DOID:0080043 achondrogenesis MONDO:0008703 acromesomelic dysplasia 2A MONDO:0019696 DOID:0080052 DOID:0080049 acromesomelic dysplasia MONDO:0008708 acrocallosal syndrome MONDO:0002254 DOID:9250 DOID:225 syndromic disease MONDO:0008713 acrodermatitis enteropathica MONDO:0004689 DOID:0050605 DOID:896 inborn metal metabolism disorder MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:0018237 DOID:0060383 DOID:0060379 acrofacial dysostosis MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type MONDO:0019696 DOID:0080051 DOID:0080049 acromesomelic dysplasia MONDO:0008742 autosomal dominant severe congenital neutropenia MONDO:0000426 DOID:0112130 DOID:0050736 autosomal dominant disease MONDO:0008742 autosomal dominant severe congenital neutropenia MONDO:0018542 DOID:0112130 DOID:0050590 severe congenital neutropenia MONDO:0008746 oculocutaneous albinism type 2 MONDO:0018910 DOID:0070096 DOID:0050632 oculocutaneous albinism MONDO:0008747 oculocutaneous albinism type 3 MONDO:0018910 DOID:0070097 DOID:0050632 oculocutaneous albinism MONDO:0008752 Alexander disease MONDO:0019046 DOID:4252 DOID:10579 leukodystrophy MONDO:0008756 alopecia - intellectual disability syndrome MONDO:0002254 DOID:0080627 DOID:225 syndromic disease MONDO:0008760 beta-ketothiolase deficiency MONDO:0006025 DOID:14723 DOID:0050737 autosomal recessive disease MONDO:0008762 autosomal recessive Alport syndrome MONDO:0006025 DOID:0110033 DOID:0050737 autosomal recessive disease MONDO:0008762 autosomal recessive Alport syndrome MONDO:0018965 DOID:0110033 DOID:10983 Alport syndrome MONDO:0008763 Alstrom syndrome MONDO:0002254 DOID:0050473 DOID:225 syndromic disease MONDO:0008763 Alstrom syndrome MONDO:0006025 DOID:0050473 DOID:0050737 autosomal recessive disease MONDO:0008764 Leber congenital amaurosis 1 MONDO:0018998 DOID:0110078 DOID:14791 Leber congenital amaurosis MONDO:0008765 Leber congenital amaurosis 2 MONDO:0018998 DOID:0110016 DOID:14791 Leber congenital amaurosis MONDO:0008771 amelogenesis imperfecta type 1G MONDO:0019507 DOID:0110066 DOID:2187 amelogenesis imperfecta MONDO:0008777 gelatinous drop-like corneal dystrophy MONDO:0000763 DOID:0060449 DOID:0060440 epithelial and subepithelial corneal dystrophy MONDO:0008783 Tangier disease MONDO:0001822 DOID:1388 DOID:1387 hypolipoproteinemia MONDO:0008786 pyridoxine-responsive sideroblastic anemia MONDO:0015194 DOID:0060066 DOID:8955 sideroblastic anemia MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0002254 DOID:0111578 DOID:225 syndromic disease MONDO:0008797 anodontia MONDO:0006999 DOID:13714 DOID:1091 tooth disorder MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0016073 DOID:0111801 DOID:0080636 syndromic microphthalmia MONDO:0008800 microphthalmia with limb anomalies MONDO:0006025 DOID:0060861 DOID:0050737 autosomal recessive disease MONDO:0008810 familial apolipoprotein C-II deficiency MONDO:0018637 DOID:0111418 DOID:0111417 familial chylomicronemia syndrome MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 MONDO:0017123 DOID:0111353 DOID:0050763 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type MONDO:0015168 DOID:0090124 DOID:0080954 arthrogryposis multiplex congenita MONDO:0008824 fetal akinesia deformation sequence MONDO:0002254 DOID:0111375 DOID:225 syndromic disease MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO:0006025 DOID:0090127 DOID:0050737 autosomal recessive disease MONDO:0008831 asphyxiating thoracic dystrophy 1 MONDO:0018770 DOID:0110085 DOID:0050592 Jeune syndrome MONDO:0008832 right atrial isomerism MONDO:0018677 DOID:0060856 DOID:0050545 visceral heterotaxy MONDO:0008846 atransferrinemia MONDO:0004689 DOID:0050649 DOID:896 inborn metal metabolism disorder MONDO:0008847 atrichia with papular lesions MONDO:0004907 DOID:0060689 DOID:987 alopecia MONDO:0008849 atrophoderma vermiculata MONDO:0018855 DOID:0080756 DOID:0080751 keratosis pilaris atrophicans MONDO:0008854 Bardet-Biedl syndrome 1 MONDO:0015229 DOID:0110123 DOID:1935 Bardet-Biedl syndrome MONDO:0008858 Behr syndrome MONDO:0006025 DOID:0111580 DOID:0050737 autosomal recessive disease MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency MONDO:0018950 DOID:0080579 DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency MONDO:0018950 DOID:0080580 DOID:0050710 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008867 biliary atresia MONDO:0001751 DOID:13608 DOID:13580 cholestasis MONDO:0008869 Seckel syndrome 1 MONDO:0019342 DOID:0070007 DOID:0050569 Seckel syndrome MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type I MONDO:0005516 DOID:0060608 DOID:2256 osteochondrodysplasia MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO:0005516 DOID:0060609 DOID:2256 osteochondrodysplasia MONDO:0008876 Bloom syndrome MONDO:0002254 DOID:2717 DOID:225 syndromic disease MONDO:0008876 Bloom syndrome MONDO:0006025 DOID:2717 DOID:0050737 autosomal recessive disease MONDO:0008879 Bowen-Conradi syndrome MONDO:0006025 DOID:0050684 DOID:0050737 autosomal recessive disease MONDO:0008885 Elsahy-Waters syndrome MONDO:0002254 DOID:0080631 DOID:225 syndromic disease MONDO:0008889 thromboangiitis obliterans MONDO:0005294 DOID:12918 DOID:341 peripheral vascular disease MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:0015762 DOID:0070226 DOID:0070221 progressive familial intrahepatic cholestasis MONDO:0008903 lung cancer MONDO:0000376 DOID:1324 DOID:0050615 respiratory system cancer MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0005500 DOID:0080552 DOID:0050570 congenital disorder of glycosylation type I MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0005501 DOID:0070253 DOID:0050571 congenital disorder of glycosylation type II MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0004736 DOID:14365 DOID:9252 inborn disorder of amino acid metabolism MONDO:0008922 Sengers syndrome MONDO:0018158 DOID:0080132 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0019287 DOID:0111245 DOID:2121 ectodermal dysplasia syndrome MONDO:0008944 Joubert syndrome 1 MONDO:0018772 DOID:0110980 DOID:0050777 Joubert syndrome MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0003996 DOID:0060230 DOID:679 basal ganglia disorder MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0002615 DOID:4810 DOID:3345 xanthomatosis MONDO:0008955 cerebrooculofacioskeletal syndrome 1 MONDO:0008926 DOID:0080911 DOID:0080910 COFS syndrome MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive MONDO:0001029 DOID:0080590 DOID:10426 Klippel-Feil syndrome MONDO:0008961 Charcot-Marie-Tooth disease type 4A MONDO:0018995 DOID:0110185 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0008962 Griscelli syndrome type 1 MONDO:0018306 DOID:0060832 DOID:0060831 Griscelli syndrome MONDO:0008965 CHARGE syndrome MONDO:0002254 DOID:0050834 DOID:225 syndromic disease MONDO:0008966 Aagenaes syndrome MONDO:0002254 DOID:6691 DOID:225 syndromic disease MONDO:0008967 congenital bile acid synthesis defect 4 MONDO:0018841 DOID:0111068 DOID:0050674 congenital bile acid synthesis defect MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:0015776 DOID:0110851 DOID:2580 rhizomelic chondrodysplasia punctata MONDO:0008978 chordoma MONDO:0002597 DOID:3302 DOID:3303 notochordal tumor MONDO:0008988 citrullinemia type I MONDO:0015991 DOID:0070340 DOID:9273 citrullinemia MONDO:0008995 Yunis-Varon syndrome MONDO:0002254 DOID:0060589 DOID:225 syndromic disease MONDO:0009003 achromatopsia 2 MONDO:0018852 DOID:0110007 DOID:13911 achromatopsia MONDO:0009015 corneal dystrophy-perceptive deafness syndrome MONDO:0002254 DOID:0111620 DOID:225 syndromic disease MONDO:0009016 band keratopathy MONDO:0001515 DOID:11164 DOID:1237 corneal degeneration MONDO:0009019 congenital hereditary endothelial dystrophy of cornea MONDO:0000766 DOID:0060649 DOID:0060443 corneal endothelial dystrophy MONDO:0009020 macular corneal dystrophy MONDO:0020213 DOID:2565 DOID:0060442 stromal corneal dystrophy MONDO:0009025 apparent mineralocorticoid excess MONDO:0005523 DOID:4367 DOID:1701 steroid inherited metabolic disorder MONDO:0009026 Costello syndrome MONDO:0000426 DOID:0050469 DOID:0050736 autosomal dominant disease MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive MONDO:0006025 DOID:0080802 DOID:0050737 autosomal recessive disease MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive MONDO:0015465 DOID:0080802 DOID:0080033 craniometaphyseal dysplasia MONDO:0009044 Crigler-Najjar syndrome MONDO:0002408 DOID:3803 DOID:2741 hereditary hyperbilirubinemia MONDO:0009046 Fraser syndrome MONDO:0002254 DOID:0090001 DOID:225 syndromic disease MONDO:0009046 Fraser syndrome MONDO:0006025 DOID:0090001 DOID:0050737 autosomal recessive disease MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:0003429 DOID:7004 DOID:5395 functioning pituitary gland adenoma MONDO:0009052 cutis laxa, autosomal recessive, type 1A MONDO:0019572 DOID:0070135 DOID:0070144 autosomal recessive cutis laxa type 1 MONDO:0009053 ALDH18A1-related de Barsy syndrome MONDO:0017569 DOID:0070132 DOID:0070143 de Barsy syndrome MONDO:0009058 cystathioninuria MONDO:0004736 DOID:0090142 DOID:9252 inborn disorder of amino acid metabolism MONDO:0009061 cystic fibrosis MONDO:0006025 DOID:1485 DOID:0050737 autosomal recessive disease MONDO:0009072 Dandy-Walker syndrome MONDO:0002427 DOID:2785 DOID:2786 cerebellar disorder MONDO:0009073 Ritscher-Schinzel syndrome 1 MONDO:0019078 DOID:0060571 DOID:0060565 Ritscher-Schinzel syndrome MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A MONDO:0019588 DOID:0110475 DOID:0050565 hearing loss, autosomal recessive MONDO:0009079 DOORS syndrome MONDO:0002254 DOID:0111627 DOID:225 syndromic disease MONDO:0009082 high myopia-sensorineural deafness syndrome MONDO:0002254 DOID:0111628 DOID:225 syndromic disease MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0006025 DOID:0090112 DOID:0050737 autosomal recessive disease MONDO:0009101 Wolfram syndrome 1 MONDO:0018105 DOID:0110629 DOID:10632 Wolfram syndrome MONDO:0009104 Donnai-Barrow syndrome MONDO:0006025 DOID:0090144 DOID:0050737 autosomal recessive disease MONDO:0009107 diastrophic dysplasia MONDO:0005516 DOID:14687 DOID:2256 osteochondrodysplasia MONDO:0009111 dihydropyrimidinuria MONDO:0019238 DOID:0111629 DOID:0050832 inborn disorder of pyrimidine metabolism MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:0015776 DOID:0110852 DOID:2580 rhizomelic chondrodysplasia punctata MONDO:0009126 duodenal atresia MONDO:0001045 DOID:0080216 DOID:10486 intestinal atresia MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0002254 DOID:0050997 DOID:225 syndromic disease MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:0019403 DOID:0111401 DOID:1338 congenital dyserythropoietic anemia MONDO:0009135 anemia, congenital dyserythropoietic, type 1a MONDO:0020337 DOID:0111398 DOID:0111396 congenital dyserythropoietic anemia type 1 MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 MONDO:0015780 DOID:0070015 DOID:2729 dyskeratosis congenita MONDO:0009143 Meier-Gorlin syndrome 1 MONDO:0016817 DOID:0080512 DOID:0060306 Meier-Gorlin syndrome MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0006025 DOID:0060773 DOID:0050737 autosomal recessive disease MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive MONDO:0015998 DOID:0111149 DOID:0111148 isolated ectopia lentis MONDO:0009155 EEM syndrome MONDO:0019287 DOID:0111649 DOID:2121 ectodermal dysplasia syndrome MONDO:0009157 split hand-foot malformation 6 MONDO:0016576 DOID:0090026 DOID:0090020 split hand-foot malformation MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type MONDO:0020066 DOID:0080730 DOID:13359 Ehlers-Danlos syndrome MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0020066 DOID:0080733 DOID:13359 Ehlers-Danlos syndrome MONDO:0009162 Ellis-van Creveld syndrome MONDO:0006025 DOID:12714 DOID:0050737 autosomal recessive disease MONDO:0009166 pontocerebellar hypoplasia type 4 MONDO:0020135 DOID:0060273 DOID:0060264 pontocerebellar hypoplasia MONDO:0009169 endocardial fibroelastosis MONDO:0000470 DOID:12929 DOID:0050825 endocardium disorder MONDO:0009174 protein-losing enteropathy MONDO:0005020 DOID:10611 DOID:5295 intestinal disorder MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO:0006543 DOID:0060642 DOID:4959 epidermolysis bullosa dystrophica MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0002254 DOID:0090017 DOID:225 syndromic disease MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:0017612 DOID:0060737 DOID:3209 junctional epidermolysis bullosa MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO:0017612 DOID:0060733 DOID:3209 junctional epidermolysis bullosa MONDO:0009189 multiple epiphyseal dysplasia type 4 MONDO:0016648 DOID:0070300 DOID:12721 multiple epiphyseal dysplasia MONDO:0009192 Wolcott-Rallison syndrome MONDO:0002254 DOID:0090060 DOID:225 syndromic disease MONDO:0009192 Wolcott-Rallison syndrome MONDO:0006025 DOID:0090060 DOID:0050737 autosomal recessive disease MONDO:0009213 Fanconi anemia complementation group C MONDO:0019391 DOID:0111087 DOID:13636 Fanconi anemia MONDO:0009214 Fanconi anemia complementation group D2 MONDO:0019391 DOID:0111083 DOID:13636 Fanconi anemia MONDO:0009215 Fanconi anemia complementation group A MONDO:0019391 DOID:0111095 DOID:13636 Fanconi anemia MONDO:0009217 Fanconi-like syndrome MONDO:0002254 DOID:0090066 DOID:225 syndromic disease MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia MONDO:0018555 DOID:0090091 DOID:0090070 hypogonadotropic hypogonadism MONDO:0009226 fibrochondrogenesis 1 MONDO:0016068 DOID:0080672 DOID:0060465 fibrochondrogenesis MONDO:0009231 acromesomelic dysplasia 2B MONDO:0006025 DOID:0050790 DOID:0050737 autosomal recessive disease MONDO:0009231 acromesomelic dysplasia 2B MONDO:0019696 DOID:0050790 DOID:0080049 acromesomelic dysplasia MONDO:0009237 focal epithelial hyperplasia MONDO:0005108 DOID:5362 DOID:934 viral infectious disease MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MONDO:0018555 DOID:0090088 DOID:0090070 hypogonadotropic hypogonadism MONDO:0009242 brittle cornea syndrome MONDO:0000942 DOID:14775 DOID:10124 corneal disorder MONDO:0009242 brittle cornea syndrome MONDO:0006025 DOID:14775 DOID:0050737 autosomal recessive disease MONDO:0009242 brittle cornea syndrome MONDO:0020066 DOID:14775 DOID:13359 Ehlers-Danlos syndrome MONDO:0009255 galactokinase deficiency MONDO:0018116 DOID:14695 DOID:9870 galactosemia MONDO:0009257 galactose epimerase deficiency MONDO:0018116 DOID:0111458 DOID:9870 galactosemia MONDO:0009258 classic galactosemia MONDO:0018116 DOID:0111459 DOID:9870 galactosemia MONDO:0009260 GM1 gangliosidosis type 1 MONDO:0018149 DOID:0080502 DOID:3322 GM1 gangliosidosis MONDO:0009261 GM1 gangliosidosis type 2 MONDO:0018149 DOID:0080501 DOID:3322 GM1 gangliosidosis MONDO:0009262 GM1 gangliosidosis type 3 MONDO:0018149 DOID:0080489 DOID:3322 GM1 gangliosidosis MONDO:0009265 Gaucher disease type I MONDO:0018150 DOID:0110957 DOID:1926 Gaucher disease MONDO:0009266 Gaucher disease type II MONDO:0018150 DOID:0110958 DOID:1926 Gaucher disease MONDO:0009267 Gaucher disease type III MONDO:0018150 DOID:0110959 DOID:1926 Gaucher disease MONDO:0009269 geleophysic dysplasia 1 MONDO:0000127 DOID:0111725 DOID:0111724 geleophysic dysplasia MONDO:0009279 triple-A syndrome MONDO:0002254 DOID:0050602 DOID:225 syndromic disease MONDO:0009279 triple-A syndrome MONDO:0006025 DOID:0050602 DOID:0050737 autosomal recessive disease MONDO:0009281 glutaryl-CoA dehydrogenase deficiency MONDO:0000688 DOID:0111254 DOID:0060159 inborn organic aciduria MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria MONDO:0017909 DOID:0112252 DOID:0080699 inherited glutathione synthetase deficiency MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:0002413 DOID:2749 DOID:0081329 glycogen storage disease I MONDO:0009290 glycogen storage disease II MONDO:0002412 DOID:2752 DOID:2747 disorder of glycogen metabolism MONDO:0009291 glycogen storage disease III MONDO:0002412 DOID:2748 DOID:2747 disorder of glycogen metabolism MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0002412 DOID:2750 DOID:2747 disorder of glycogen metabolism MONDO:0009293 glycogen storage disease V MONDO:0002412 DOID:2746 DOID:2747 disorder of glycogen metabolism MONDO:0009294 glycogen storage disease VI MONDO:0002412 DOID:2754 DOID:2747 disorder of glycogen metabolism MONDO:0009295 glycogen storage disease VII MONDO:0002412 DOID:11721 DOID:2747 disorder of glycogen metabolism MONDO:0009297 familial renal glucosuria MONDO:0006510 DOID:9432 DOID:447 renal tubular transport disease MONDO:0009299 46 XX gonadal dysgenesis MONDO:0001967 DOID:14450 DOID:14447 gonadal dysgenesis MONDO:0009301 46,XY sex reversal 7 MONDO:0010765 DOID:0111774 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MONDO:0018305 DOID:0070193 DOID:3265 chronic granulomatous disease MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MONDO:0018305 DOID:0070192 DOID:3265 chronic granulomatous disease MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MONDO:0018305 DOID:0070191 DOID:3265 chronic granulomatous disease MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0018307 DOID:3981 DOID:0110734 neurodegeneration with brain iron accumulation MONDO:0009326 congenital heart block MONDO:0000465 DOID:990 DOID:0050820 atrioventricular block MONDO:0009329 pulmonary venoocclusive disease 2 MONDO:0009937 DOID:0081269 DOID:5453 pulmonary venoocclusive disease MONDO:0009339 congenital bile acid synthesis defect 2 MONDO:0018841 DOID:0111069 DOID:0050674 congenital bile acid synthesis defect MONDO:0009345 histidinemia MONDO:0019228 DOID:0060168 DOID:9265 inborn disorder of histidine metabolism MONDO:0009349 holoprosencephaly 1 MONDO:0016296 DOID:0110881 DOID:4621 holoprosencephaly MONDO:0009350 Holzgreve-Wagner-Rehder syndrome MONDO:0002254 DOID:0060566 DOID:225 syndromic disease MONDO:0009351 homocarnosinosis MONDO:0000698 DOID:0060177 DOID:0060176 gamma-amino butyric acid metabolism disorder MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0002254 DOID:0080327 DOID:225 syndromic disease MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0006025 DOID:0080327 DOID:0050737 autosomal recessive disease MONDO:0009365 hydrolethalus syndrome 1 MONDO:0006037 DOID:0111355 DOID:0050779 hydrolethalus syndrome MONDO:0009366 normal pressure hydrocephalus MONDO:0002045 DOID:1572 DOID:1573 communicating hydrocephalus MONDO:0009370 L-2-hydroxyglutaric aciduria MONDO:0016001 DOID:0050574 DOID:0050573 2-hydroxyglutaric aciduria MONDO:0009380 Dubin-Johnson syndrome MONDO:0002408 DOID:12308 DOID:2741 hereditary hyperbilirubinemia MONDO:0009387 familial lipoprotein lipase deficiency MONDO:0018637 DOID:14118 DOID:0111417 familial chylomicronemia syndrome MONDO:0009394 juvenile Paget disease MONDO:0005382 DOID:0081368 DOID:5408 bone Paget disease MONDO:0009395 hyperostosis corticalis generalisata MONDO:0002185 DOID:0080036 DOID:205 hyperostosis MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 MONDO:0016596 DOID:0070433 DOID:0070431 hyperphosphatasia-intellectual disability syndrome MONDO:0009400 hyperprolinemia type 1 MONDO:0023419 DOID:0080542 DOID:0080541 hyperprolinemia MONDO:0009401 hyperprolinemia type 2 MONDO:0023419 DOID:0080543 DOID:0080541 hyperprolinemia MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0006025 DOID:14670 DOID:0050737 autosomal recessive disease MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type MONDO:0005516 DOID:0060569 DOID:2256 osteochondrodysplasia MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0017278 DOID:0050167 DOID:14040 autoimmune polyendocrinopathy MONDO:0009413 immunodeficiency, common variable, 2 MONDO:0015517 DOID:0081145 DOID:12177 common variable immunodeficiency MONDO:0009424 Bartter disease type 2 MONDO:0015231 DOID:0110143 DOID:445 Bartter syndrome MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0002254 DOID:0060348 DOID:225 syndromic disease MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0006025 DOID:0060348 DOID:0050737 autosomal recessive disease MONDO:0009441 autosomal recessive congenital ichthyosis 1 MONDO:0017265 DOID:0060656 DOID:0060655 autosomal recessive congenital ichthyosis MONDO:0009451 Nezelof syndrome MONDO:0001222 DOID:2012 DOID:11200 congenital T-cell immunodeficiency MONDO:0009452 Vici syndrome MONDO:0002254 DOID:0060356 DOID:225 syndromic disease MONDO:0009452 Vici syndrome MONDO:0006025 DOID:0060356 DOID:0050737 autosomal recessive disease MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:0000133 DOID:0090008 DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0009461 spermatogenic failure 5 MONDO:0004983 DOID:0070183 DOID:0111910 spermatogenic failure MONDO:0009465 multiple intestinal atresia MONDO:0006025 DOID:14671 DOID:0050737 autosomal recessive disease MONDO:0009468 pseudotumor cerebri MONDO:0006810 DOID:11459 DOID:9428 intracranial hypertension MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 MONDO:0019008 DOID:0070231 DOID:0070230 benign recurrent intrahepatic cholestasis MONDO:0009470 Baraitser-Winter syndrome 1 MONDO:0017579 DOID:0081112 DOID:0060229 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0009477 Stromme syndrome MONDO:0016575 DOID:0110595 DOID:9562 primary ciliary dyskinesia MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency MONDO:0018037 DOID:0080594 DOID:0080545 hyper-IgE syndrome MONDO:0009479 Johanson-Blizzard syndrome MONDO:0006025 DOID:14694 DOID:0050737 autosomal recessive disease MONDO:0009484 primary ciliary dyskinesia 1 MONDO:0016575 DOID:0110594 DOID:9562 primary ciliary dyskinesia MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:0006025 DOID:0080722 DOID:0050737 autosomal recessive disease MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:0016516 DOID:0080722 DOID:0080724 Kenny-Caffey syndrome MONDO:0009490 Papillon-Lefevre disease MONDO:0006025 DOID:3389 DOID:0050737 autosomal recessive disease MONDO:0009499 Krabbe disease MONDO:0019255 DOID:10587 DOID:1927 sphingolipidosis MONDO:0009514 Laurence-Moon syndrome MONDO:0002254 DOID:1930 DOID:225 syndromic disease MONDO:0009514 Laurence-Moon syndrome MONDO:0006025 DOID:1930 DOID:0050737 autosomal recessive disease MONDO:0009515 Norum disease MONDO:0001822 DOID:1391 DOID:1387 hypolipoproteinemia MONDO:0009517 Donohue syndrome MONDO:0002254 DOID:0050470 DOID:225 syndromic disease MONDO:0009517 Donohue syndrome MONDO:0006025 DOID:0050470 DOID:0050737 autosomal recessive disease MONDO:0009525 split hand-foot malformation 3 MONDO:0016576 DOID:0090025 DOID:0090020 split hand-foot malformation MONDO:0009527 lipase deficiency, combined MONDO:0006025 DOID:0111422 DOID:0050737 autosomal recessive disease MONDO:0009527 lipase deficiency, combined MONDO:0018637 DOID:0111422 DOID:0111417 familial chylomicronemia syndrome MONDO:0009530 lipoid proteinosis MONDO:0002525 DOID:14498 DOID:3146 inherited lipid metabolism disorder MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0002254 DOID:0060469 DOID:225 syndromic disease MONDO:0009537 lymphoid interstitial pneumonia MONDO:0002429 DOID:0050159 DOID:2797 idiopathic interstitial pneumonia MONDO:0009554 3MC syndrome 3 MONDO:0017398 DOID:0060577 DOID:0060225 3MC syndrome MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy MONDO:0016584 DOID:0081128 DOID:0081127 mandibuloacral dysplasia MONDO:0009558 Treacher Collins syndrome 3 MONDO:0002457 DOID:0080791 DOID:2908 Treacher-Collins syndrome MONDO:0009563 maple syrup urine disease MONDO:0000688 DOID:9269 DOID:0060159 inborn organic aciduria MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0002254 DOID:0080195 DOID:225 syndromic disease MONDO:0009568 mast syndrome MONDO:0019064 DOID:0060245 DOID:2476 hereditary spastic paraplegia MONDO:0009571 Meckel syndrome, type 1 MONDO:0018921 DOID:0070115 DOID:0050778 Meckel syndrome MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0006025 DOID:0090117 DOID:0050737 autosomal recessive disease MONDO:0009576 megalocornea MONDO:0000942 DOID:0060305 DOID:10124 corneal disorder MONDO:0009580 intellectual disability, autosomal recessive 1 MONDO:0019502 DOID:0081177 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:0016763 DOID:0112298 DOID:0112295 spondylometaphyseal dysplasia MONDO:0009595 cartilage-hair hypoplasia MONDO:0006025 DOID:14773 DOID:0050737 autosomal recessive disease MONDO:0009595 cartilage-hair hypoplasia MONDO:0019287 DOID:14773 DOID:2121 ectodermal dysplasia syndrome MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0017359 DOID:0110002 DOID:0060336 3-methylglutaconic aciduria MONDO:0009611 3-methylglutaconic aciduria type 4 MONDO:0017359 DOID:0110006 DOID:0060336 3-methylglutaconic aciduria MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0002012 DOID:0060740 DOID:14749 methylmalonic acidemia MONDO:0009617 microcephaly 1, primary, autosomal recessive MONDO:0016660 DOID:0070285 DOID:0070296 autosomal recessive primary microcephaly MONDO:0009623 Nijmegen breakage syndrome MONDO:0006025 DOID:7400 DOID:0050737 autosomal recessive disease MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0002254 DOID:0080105 DOID:225 syndromic disease MONDO:0009626 pseudo-TORCH syndrome MONDO:0006025 DOID:0050656 DOID:0050737 autosomal recessive disease MONDO:0009627 Galloway-Mowat syndrome MONDO:0002254 DOID:0080694 DOID:225 syndromic disease MONDO:0009631 isolated microphthalmia 1 MONDO:0000062 DOID:0060840 DOID:0080637 isolated microphthalmia MONDO:0009642 orofaciodigital syndrome type II MONDO:0015375 DOID:0060959 DOID:4501 orofaciodigital syndrome MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0020480 DOID:0111164 DOID:0111165 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0020480 DOID:0111163 DOID:0111165 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0018937 DOID:0111395 DOID:12801 mucopolysaccharidosis type 3 MONDO:0009656 mucopolysaccharidosis type 3B MONDO:0018937 DOID:0111394 DOID:12801 mucopolysaccharidosis type 3 MONDO:0009657 mucopolysaccharidosis type 3C MONDO:0018937 DOID:0111393 DOID:12801 mucopolysaccharidosis type 3 MONDO:0009658 mucopolysaccharidosis type 3D MONDO:0018937 DOID:0111402 DOID:12801 mucopolysaccharidosis type 3 MONDO:0009659 mucopolysaccharidosis type 4A MONDO:0018938 DOID:0111391 DOID:12804 mucopolysaccharidosis type 4 MONDO:0009660 mucopolysaccharidosis type 4B MONDO:0018938 DOID:0111392 DOID:12804 mucopolysaccharidosis type 4 MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0019249 DOID:12800 DOID:12798 mucopolysaccharidosis MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0019249 DOID:12803 DOID:12798 mucopolysaccharidosis MONDO:0009664 mulibrey nanism MONDO:0002254 DOID:0050436 DOID:225 syndromic disease MONDO:0009664 mulibrey nanism MONDO:0006025 DOID:0050436 DOID:0050737 autosomal recessive disease MONDO:0009665 biotinidase deficiency MONDO:0015454 DOID:856 DOID:857 multiple carboxylase deficiency MONDO:0009666 holocarboxylase synthetase deficiency MONDO:0015454 DOID:859 DOID:857 multiple carboxylase deficiency MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0017436 DOID:0060559 DOID:0060558 lethal congenital contracture syndrome MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A MONDO:0015152 DOID:0110275 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B MONDO:0015152 DOID:0110276 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:0015152 DOID:0110277 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0009681 Ullrich congenital muscular dystrophy 1A MONDO:0000355 DOID:0060946 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H MONDO:0015152 DOID:0110282 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0009685 Miyoshi myopathy MONDO:0018949 DOID:0070198 DOID:11720 distal myopathy MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0018940 DOID:0110671 DOID:3635 congenital myasthenic syndrome MONDO:0009691 mycosis fungoides MONDO:0000607 DOID:8691 DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0009693 plasma cell myeloma MONDO:0005170 DOID:9538 DOID:0070004 myeloid neoplasm MONDO:0009697 Lafora disease MONDO:0020074 DOID:3534 DOID:891 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 DOID:3535 DOID:891 progressive myoclonus epilepsy MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0020074 DOID:0111444 DOID:891 progressive myoclonus epilepsy MONDO:0009709 myopathy, centronuclear, 2 MONDO:0015705 DOID:0111220 DOID:0111216 autosomal recessive centronuclear myopathy MONDO:0009718 myxedema MONDO:0005420 DOID:11634 DOID:1459 hypothyroidism MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0019952 DOID:0060346 DOID:0081337 congenital myopathy MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0006025 DOID:0050553 DOID:0050737 autosomal recessive disease MONDO:0009728 nephronophthisis 1 MONDO:0019005 DOID:0111112 DOID:12712 nephronophthisis MONDO:0009732 congenital nephrotic syndrome, Finnish type MONDO:0002350 DOID:0080390 DOID:2590 familial nephrotic syndrome MONDO:0009733 nephrotic syndrome, type 4 MONDO:0002350 DOID:0080383 DOID:2590 familial nephrotic syndrome MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 MONDO:0005803 DOID:0070219 DOID:13317 hyperinsulinemic hypoglycemia MONDO:0009735 Netherton syndrome MONDO:0006025 DOID:0050474 DOID:0050737 autosomal recessive disease MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0016295 DOID:0110721 DOID:14503 neuronal ceroid lipofuscinosis MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0016295 DOID:0110728 DOID:14503 neuronal ceroid lipofuscinosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0015364 DOID:0070146 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0009751 neuropathy, hereditary sensory, atypical MONDO:0015364 DOID:0070160 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0009758 congenital stationary night blindness 1B MONDO:0016293 DOID:0110865 DOID:0050534 congenital stationary night blindness MONDO:0009759 mosaic variegated aneuploidy syndrome 1 MONDO:0000141 DOID:0080141 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0009761 cystic hygroma MONDO:0002013 DOID:3081 DOID:1475 lymphangioma MONDO:0009762 nystagmus, congenital, autosomal recessive MONDO:0005712 DOID:0111797 DOID:9649 congenital nystagmus MONDO:0009764 ocular motor apraxia, Cogan type MONDO:0005328 DOID:0080849 DOID:5614 eye disorder MONDO:0009770 3MC syndrome 1 MONDO:0017398 DOID:0060575 DOID:0060225 3MC syndrome MONDO:0009774 cloacal exstrophy MONDO:0017919 DOID:0080175 DOID:0080173 exstrophy-epispadias complex MONDO:0009776 spermatogenic failure 1 MONDO:0004983 DOID:0070188 DOID:0111910 spermatogenic failure MONDO:0009779 autosomal recessive omodysplasia MONDO:0006025 DOID:0080844 DOID:0050737 autosomal recessive disease MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 DOID:0080844 DOID:0060288 omodysplasia MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0017359 DOID:0110004 DOID:0060336 3-methylglutaconic aciduria MONDO:0009793 orofaciodigital syndrome III MONDO:0015375 DOID:0060373 DOID:4501 orofaciodigital syndrome MONDO:0009794 orofaciodigital syndrome IV MONDO:0015375 DOID:0060374 DOID:4501 orofaciodigital syndrome MONDO:0009795 orofaciodigital syndrome IX MONDO:0015375 DOID:0060382 DOID:4501 orofaciodigital syndrome MONDO:0009796 ornithine aminotransferase deficiency MONDO:0001898 DOID:1415 DOID:1417 optic choroid disorder MONDO:0009797 orotic aciduria MONDO:0019238 DOID:0050833 DOID:0050832 inborn disorder of pyrimidine metabolism MONDO:0009813 chronic recurrent multifocal osteomyelitis MONDO:0005246 DOID:0060645 DOID:1019 osteomyelitis MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0002254 DOID:0060849 DOID:225 syndromic disease MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0006025 DOID:0060849 DOID:0050737 autosomal recessive disease MONDO:0009823 primary hyperoxaluria type 1 MONDO:0002474 DOID:0111670 DOID:2977 primary hyperoxaluria MONDO:0009824 primary hyperoxaluria type 2 MONDO:0002474 DOID:0111671 DOID:2977 primary hyperoxaluria MONDO:0009833 Shwachman-Diamond syndrome MONDO:0002254 DOID:0060479 DOID:225 syndromic disease MONDO:0009837 choroid plexus papilloma MONDO:0002363 DOID:2626 DOID:2615 papilloma MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0019220 DOID:0050734 DOID:0050731 inborn disorder of cobalamin metabolism and transport MONDO:0009856 Peters plus syndrome MONDO:0002254 DOID:0080201 DOID:225 syndromic disease MONDO:0009857 persistent Mullerian duct syndrome MONDO:0005518 DOID:0050791 DOID:3765 pseudohermaphroditism MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0002412 DOID:0090101 DOID:2747 disorder of glycogen metabolism MONDO:0009872 Bjornstad syndrome MONDO:0006025 DOID:0050677 DOID:0050737 autosomal recessive disease MONDO:0009875 achromatopsia 3 MONDO:0018852 DOID:0110008 DOID:13911 achromatopsia MONDO:0009876 isolated growth hormone deficiency type IA MONDO:0000050 DOID:0060873 DOID:0060870 isolated congenital growth hormone deficiency MONDO:0009877 Laron syndrome MONDO:0006025 DOID:9521 DOID:0050737 autosomal recessive disease MONDO:0009883 alpha-2-plasmin inhibitor deficiency MONDO:0002243 DOID:0060601 DOID:2213 hemorrhagic disease MONDO:0009887 desquamative interstitial pneumonia MONDO:0002429 DOID:0050158 DOID:2797 idiopathic interstitial pneumonia MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0006025 DOID:0110861 DOID:0050737 autosomal recessive disease MONDO:0009889 autosomal recessive polycystic kidney disease MONDO:0020642 DOID:0110861 DOID:0080322 polycystic kidney disease MONDO:0009892 Chuvash polycythemia MONDO:0001115 DOID:0060474 DOID:10780 familial polycythemia MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly MONDO:0018770 DOID:0110092 DOID:0050592 Jeune syndrome MONDO:0009902 cutaneous porphyria MONDO:0019142 DOID:13271 DOID:13268 inherited porphyria MONDO:0009903 postaxial acrofacial dysostosis MONDO:0002254 DOID:0111259 DOID:225 syndromic disease MONDO:0009904 Gitelman syndrome MONDO:0006510 DOID:0050450 DOID:447 renal tubular transport disease MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0006025 DOID:2738 DOID:0050737 autosomal recessive disease MONDO:0009927 3MC syndrome 2 MONDO:0017398 DOID:0060576 DOID:0060225 3MC syndrome MONDO:0009928 pulmonary alveolar microlithiasis MONDO:0005275 DOID:12117 DOID:850 lung disorder MONDO:0009940 pycnodysostosis MONDO:0005516 DOID:0080038 DOID:2256 osteochondrodysplasia MONDO:0009943 Pyle disease MONDO:0005516 DOID:0080019 DOID:2256 osteochondrodysplasia MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria MONDO:0017909 DOID:0081034 DOID:0080699 inherited glutathione synthetase deficiency MONDO:0009950 pyruvate kinase deficiency of red cells MONDO:0006506 DOID:0111077 DOID:2861 congenital nonspherocytic hemolytic anemia MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0005501 DOID:0070255 DOID:0050571 congenital disorder of glycosylation type II MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0017570 DOID:0080492 DOID:6612 leukocyte adhesion deficiency MONDO:0009955 rapadilino syndrome MONDO:0006025 DOID:0050774 DOID:0050737 autosomal recessive disease MONDO:0009960 inflammatory bowel disease 1 MONDO:0005265 DOID:0110892 DOID:0050589 inflammatory bowel disease MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0006025 DOID:0110097 DOID:0050737 autosomal recessive disease MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0018770 DOID:0110097 DOID:0050592 Jeune syndrome MONDO:0009965 Perlman syndrome MONDO:0002254 DOID:0060476 DOID:225 syndromic disease MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0018921 DOID:0070121 DOID:0050778 Meckel syndrome MONDO:0009975 reticulum cell sarcoma MONDO:0000612 DOID:8538 DOID:0060073 lymphatic system cancer MONDO:0009984 late-adult onset retinitis pigmentosa MONDO:0019200 DOID:0110421 DOID:10584 retinitis pigmentosa MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy MONDO:0019200 DOID:0110422 DOID:10584 retinitis pigmentosa MONDO:0009990 Revesz syndrome MONDO:0015780 DOID:0070026 DOID:2729 dyskeratosis congenita MONDO:0009993 embryonal rhabdomyosarcoma MONDO:0005212 DOID:3246 DOID:3247 rhabdomyosarcoma MONDO:0009994 alveolar rhabdomyosarcoma MONDO:0005212 DOID:4051 DOID:3247 rhabdomyosarcoma MONDO:0009999 autosomal recessive Robinow syndrome MONDO:0006025 DOID:0060764 DOID:0050737 autosomal recessive disease MONDO:0009999 autosomal recessive Robinow syndrome MONDO:0019978 DOID:0060764 DOID:0060254 Robinow syndrome MONDO:0010004 EEC syndrome MONDO:0000426 DOID:0060782 DOID:0050736 autosomal dominant disease MONDO:0010004 EEC syndrome MONDO:0002254 DOID:0060782 DOID:225 syndromic disease MONDO:0010006 Sandhoff disease MONDO:0017720 DOID:3323 DOID:3321 GM2 gangliosidosis MONDO:0010010 Schinzel-Giedion syndrome MONDO:0019287 DOID:0070509 DOID:2121 ectodermal dysplasia syndrome MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0017278 DOID:0050168 DOID:14040 autoimmune polyendocrinopathy MONDO:0010013 schneckenbecken dysplasia MONDO:0005516 DOID:0050775 DOID:2256 osteochondrodysplasia MONDO:0010015 anterior segment dysgenesis 7 MONDO:0019503 DOID:0080612 DOID:0060648 anterior segment dysgenesis MONDO:0010016 sclerosteosis 1 MONDO:0017838 DOID:0060756 DOID:0060251 sclerosteosis MONDO:0010017 sea-blue histiocyte syndrome MONDO:0019255 DOID:4423 DOID:1927 sphingolipidosis MONDO:0010020 congenital generalized lipodystrophy type 2 MONDO:0006536 DOID:0111136 DOID:0050585 congenital generalized lipodystrophy MONDO:0010026 SHORT syndrome MONDO:0002254 DOID:0111454 DOID:225 syndromic disease MONDO:0010029 situs inversus MONDO:0018677 DOID:758 DOID:0050545 visceral heterotaxy MONDO:0010030 Sjogren syndrome MONDO:0000586 DOID:12894 DOID:0060029 autoimmune disorder of exocrine system MONDO:0010031 Sjogren-Larsson syndrome MONDO:0006025 DOID:14501 DOID:0050737 autosomal recessive disease MONDO:0010041 Charlevoix-Saguenay spastic ataxia MONDO:0015244 DOID:0050946 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0010047 hereditary spastic paraplegia 5A MONDO:0019064 DOID:0110810 DOID:2476 hereditary spastic paraplegia MONDO:0010052 spermatogenic failure 4 MONDO:0004983 DOID:0070176 DOID:0111910 spermatogenic failure MONDO:0010053 hereditary spherocytosis type 3 MONDO:0019350 DOID:0110918 DOID:12971 hereditary spherocytosis MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type MONDO:0100510 DOID:5684 DOID:0080027 spondyloepimetaphyseal dysplasia MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive MONDO:0006025 DOID:0112293 DOID:0050737 autosomal recessive disease MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive MONDO:0019667 DOID:0112293 DOID:0112284 spondyloepiphyseal dysplasia tarda MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MONDO:0019667 DOID:0112292 DOID:0112284 spondyloepiphyseal dysplasia tarda MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO:0019675 DOID:0112198 DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome MONDO:0100510 DOID:0112196 DOID:0080027 spondyloepimetaphyseal dysplasia MONDO:0010079 Canavan disease MONDO:0019046 DOID:3613 DOID:10579 leukodystrophy MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0000698 DOID:0060175 DOID:0060176 gamma-amino butyric acid metabolism disorder MONDO:0010088 mucosulfatidosis MONDO:0019255 DOID:0050441 DOID:1927 sphingolipidosis MONDO:0010091 Cold-induced sweating syndrome 1 MONDO:0015526 DOID:0080329 DOID:0060294 cold-induced sweating syndrome MONDO:0010094 spondylocarpotarsal synostosis syndrome MONDO:0005497 DOID:0090116 DOID:0080006 bone development disease MONDO:0010099 Tay-Sachs disease AB variant MONDO:0017720 DOID:4795 DOID:3321 GM2 gangliosidosis MONDO:0010100 Tay-Sachs disease MONDO:0017720 DOID:3320 DOID:3321 GM2 gangliosidosis MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:0002254 DOID:14699 DOID:225 syndromic disease MONDO:0010132 familial thyroid dyshormonogenesis MONDO:0018612 DOID:0112183 DOID:0050328 congenital hypothyroidism MONDO:0010133 thyroid dyshormonogenesis 2A MONDO:0010132 DOID:0112186 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0010134 Pendred syndrome MONDO:0002254 DOID:0060744 DOID:225 syndromic disease MONDO:0010134 Pendred syndrome MONDO:0006025 DOID:0060744 DOID:0050737 autosomal recessive disease MONDO:0010135 thyroid dyshormonogenesis 3 MONDO:0010132 DOID:0112187 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0010136 thyroid dyshormonogenesis 4 MONDO:0010132 DOID:0112188 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0010137 thyroid dyshormonogenesis 5 MONDO:0010132 DOID:0112184 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0010149 transcobalamin II deficiency MONDO:0019220 DOID:0050818 DOID:0050731 inborn disorder of cobalamin metabolism and transport MONDO:0010150 head and neck squamous cell carcinoma MONDO:0002038 DOID:5520 DOID:1542 head and neck carcinoma MONDO:0010150 head and neck squamous cell carcinoma MONDO:0005096 DOID:5520 DOID:1749 squamous cell carcinoma MONDO:0010160 tyrosinemia type II MONDO:0004741 DOID:0050725 DOID:9275 tyrosinemia MONDO:0010161 tyrosinemia type I MONDO:0004741 DOID:0050726 DOID:9275 tyrosinemia MONDO:0010162 tyrosinemia type III MONDO:0004741 DOID:0050727 DOID:9275 tyrosinemia MONDO:0010167 urocanic aciduria MONDO:0019228 DOID:0112180 DOID:9265 inborn disorder of histidine metabolism MONDO:0010168 Usher syndrome type 1 MONDO:0019501 DOID:0110826 DOID:0050439 Usher syndrome MONDO:0010169 Usher syndrome type 2A MONDO:0016484 DOID:0110838 DOID:0110827 Usher syndrome type 2 MONDO:0010170 Usher syndrome type 3A MONDO:0016485 DOID:0110841 DOID:0110828 Usher syndrome type 3 MONDO:0010171 Usher syndrome type 1C MONDO:0010168 DOID:0110830 DOID:0110826 Usher syndrome type 1 MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 MONDO:0017771 DOID:0112178 DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation MONDO:0018801 DOID:0111864 DOID:0111862 congenital bilateral absence of vas deferens MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0015722 DOID:0112173 DOID:0112172 congenital vitamin K-dependent coagulation factors deficiency MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0005528 DOID:0090028 DOID:0050718 inborn vitamin metabolic disorder MONDO:0010190 pontocerebellar hypoplasia type 2A MONDO:0016759 DOID:0060267 DOID:0112328 pontocerebellar hypoplasia type 2 MONDO:0010191 von Willebrand disease 3 MONDO:0019565 DOID:0111054 DOID:12531 hereditary von Willebrand disease MONDO:0010193 Weaver syndrome MONDO:0002254 DOID:14731 DOID:225 syndromic disease MONDO:0010196 Werner syndrome MONDO:0006025 DOID:5688 DOID:0050737 autosomal recessive disease MONDO:0010196 Werner syndrome MONDO:0015333 DOID:5688 DOID:0081332 progeroid syndrome MONDO:0010197 whistling face syndrome, recessive form MONDO:0008675 DOID:0111606 DOID:0111604 Freeman-Sheldon syndrome MONDO:0010200 Wilson disease MONDO:0004689 DOID:893 DOID:896 inborn metal metabolism disorder MONDO:0010206 hypotrichosis 8 MONDO:0003037 DOID:0110705 DOID:4535 hypotrichosis MONDO:0010209 xanthinuria type I MONDO:0018106 DOID:0070452 DOID:0060236 hereditary xanthinuria MONDO:0010210 xeroderma pigmentosum group A MONDO:0019600 DOID:0110843 DOID:0050427 xeroderma pigmentosum MONDO:0010211 xeroderma pigmentosum group C MONDO:0019600 DOID:0110844 DOID:0050427 xeroderma pigmentosum MONDO:0010212 xeroderma pigmentosum group D MONDO:0019600 DOID:0110845 DOID:0050427 xeroderma pigmentosum MONDO:0010213 xeroderma pigmentosum group E MONDO:0019600 DOID:0110846 DOID:0050427 xeroderma pigmentosum MONDO:0010214 xeroderma pigmentosum variant type MONDO:0019600 DOID:0110847 DOID:0050427 xeroderma pigmentosum MONDO:0010215 xeroderma pigmentosum group F MONDO:0019600 DOID:0110848 DOID:0050427 xeroderma pigmentosum MONDO:0010216 xeroderma pigmentosum group G MONDO:0019600 DOID:0110849 DOID:0050427 xeroderma pigmentosum MONDO:0010218 46,XX sex reversal 2 MONDO:0100249 DOID:0111763 DOID:0111760 46,XX testicular disorder of sex development MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome MONDO:0002254 DOID:0112151 DOID:225 syndromic disease MONDO:0010225 Dent disease type 1 MONDO:0015612 DOID:0081453 DOID:0050699 Dent disease MONDO:0010226 46,XY sex reversal 2 MONDO:0010765 DOID:0111777 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0010227 retinitis pigmentosa 3 MONDO:0019200 DOID:0110414 DOID:10584 retinitis pigmentosa MONDO:0010228 hearing loss, X-linked 3 MONDO:0019586 DOID:0111736 DOID:0050566 X-linked nonsyndromic hearing loss MONDO:0010230 intellectual disability, X-linked 23 MONDO:0019181 DOID:0112049 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010231 intellectual disability, X-linked 20 MONDO:0019181 DOID:0112023 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome MONDO:0020119 DOID:0060827 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010236 intellectual disability, X-linked 14 MONDO:0019181 DOID:0112027 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010238 hearing loss, X-linked 4 MONDO:0019586 DOID:0111735 DOID:0050566 X-linked nonsyndromic hearing loss MONDO:0010242 fetal akinesia syndrome, X-linked MONDO:0008824 DOID:0081043 DOID:0111375 fetal akinesia deformation sequence MONDO:0010246 developmental and epileptic encephalopathy, 9 MONDO:0100062 DOID:0060848 DOID:0112202 developmental and epileptic encephalopathy MONDO:0010250 intellectual disability, X-linked 49 MONDO:0020119 DOID:0112060 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010251 intellectual disability, X-linked 50 MONDO:0019181 DOID:0112029 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010256 intellectual disability, X-linked 21 MONDO:0019181 DOID:0112022 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010258 MEHMO syndrome MONDO:0020119 DOID:0060801 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010259 retinitis pigmentosa 24 MONDO:0019200 DOID:0110416 DOID:10584 retinitis pigmentosa MONDO:0010261 microphthalmia, syndromic 2 MONDO:0016073 DOID:0111809 DOID:0080636 syndromic microphthalmia MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome MONDO:0002254 DOID:0111860 DOID:225 syndromic disease MONDO:0010266 intellectual disability, X-linked 58 MONDO:0019181 DOID:0112024 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:0000425 DOID:0112238 DOID:0050735 X-linked disease MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:0018838 DOID:0112238 DOID:0050453 lissencephaly spectrum disorders MONDO:0010269 Coats disease MONDO:0004348 DOID:7765 DOID:7736 retinal telangiectasia MONDO:0010270 syndromic X-linked intellectual disability 7 MONDO:0020119 DOID:0060808 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010277 syndromic X-linked intellectual disability Shashi type MONDO:0020119 DOID:0060826 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:0020119 DOID:0060799 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010285 syndromic X-linked intellectual disability Abidi type MONDO:0020119 DOID:0060818 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010286 syndromic X-linked intellectual disability Siderius type MONDO:0020119 DOID:0060812 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010287 hereditary spastic paraplegia 16 MONDO:0019064 DOID:0110769 DOID:2476 hereditary spastic paraplegia MONDO:0010289 intellectual disability, X-linked 72 MONDO:0019181 DOID:0112059 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010293 ectodermal dysplasia and immune deficiency MONDO:0003778 DOID:0081077 DOID:612 inborn error of immunity MONDO:0010294 X-linked severe congenital neutropenia MONDO:0018542 DOID:0112128 DOID:0050590 severe congenital neutropenia MONDO:0010300 intellectual disability, X-linked 53 MONDO:0019181 DOID:0112047 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010305 creatine transporter deficiency MONDO:0000456 DOID:0050800 DOID:0050798 cerebral creatine deficiency syndrome MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:0020119 DOID:0060822 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010307 intellectual disability, X-linked 73 MONDO:0019181 DOID:0112017 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010309 intellectual disability, X-linked 42 MONDO:0019181 DOID:0112057 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010311 Becker muscular dystrophy MONDO:0020121 DOID:9883 DOID:9884 muscular dystrophy MONDO:0010313 intellectual disability, X-linked 63 MONDO:0019181 DOID:0112050 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related MONDO:0019181 DOID:0112021 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010320 retinitis pigmentosa 23 MONDO:0019200 DOID:0110412 DOID:10584 retinitis pigmentosa MONDO:0010322 intellectual disability, X-linked 2 MONDO:0019181 DOID:0112016 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010324 intellectual disability, X-linked 81 MONDO:0019181 DOID:0112033 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:0020119 DOID:0112126 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010326 intellectual disability, X-linked 46 MONDO:0019181 DOID:0112055 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome MONDO:0002254 DOID:0112125 DOID:225 syndromic disease MONDO:0010329 intellectual disability, X-linked 77 MONDO:0019181 DOID:0112039 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0020119 DOID:0060816 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010336 orofaciodigital syndrome VIII MONDO:0015375 DOID:0060378 DOID:4501 orofaciodigital syndrome MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0020119 DOID:0080311 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010338 X-linked distal spinal muscular atrophy type 3 MONDO:0001516 DOID:0111196 DOID:12377 spinal muscular atrophy MONDO:0010344 intellectual disability, X-linked 45 MONDO:0019181 DOID:0112028 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010347 intellectual disability, X-linked 84 MONDO:0019181 DOID:0112030 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010349 ovarian dysgenesis 2 MONDO:0009299 DOID:0080494 DOID:14450 46 XX gonadal dysgenesis MONDO:0010351 Fanconi anemia complementation group B MONDO:0019391 DOID:0111098 DOID:13636 Fanconi anemia MONDO:0010352 intellectual disability, X-linked 82 MONDO:0019181 DOID:0112052 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0020119 DOID:0060809 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010358 hypophosphatemic rickets, X-linked recessive MONDO:0020605 DOID:0080353 DOID:0080012 X-linked recessive disease MONDO:0010359 Dent disease type 2 MONDO:0015612 DOID:0081454 DOID:0050699 Dent disease MONDO:0010361 intellectual disability, X-linked 30 MONDO:0019181 DOID:0112051 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010363 intellectual disability, X-linked 91 MONDO:0019181 DOID:0112043 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked MONDO:0009711 DOID:0111226 DOID:0080102 congenital fiber-type disproportion myopathy MONDO:0010369 nystagmus 5, congenital, X-linked MONDO:0005712 DOID:0111796 DOID:9649 congenital nystagmus MONDO:0010370 Cornelia de Lange syndrome 2 MONDO:0016033 DOID:0080506 DOID:11725 Cornelia de Lange syndrome MONDO:0010374 retinitis pigmentosa 34 MONDO:0019200 DOID:0110417 DOID:10584 retinitis pigmentosa MONDO:0010375 developmental and epileptic encephalopathy, 8 MONDO:0100062 DOID:0080215 DOID:0112202 developmental and epileptic encephalopathy MONDO:0010379 Brunner syndrome MONDO:0004736 DOID:0060693 DOID:9252 inborn disorder of amino acid metabolism MONDO:0010379 Brunner syndrome MONDO:0020605 DOID:0060693 DOID:0080012 X-linked recessive disease MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:0016612 DOID:0050879 DOID:0050953 X-linked cerebellar ataxia MONDO:0010383 fragile X syndrome MONDO:0002254 DOID:14261 DOID:225 syndromic disease MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0020605 DOID:0060706 DOID:0080012 X-linked recessive disease MONDO:0010393 intellectual disability, X-linked 93 MONDO:0019181 DOID:0112045 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0100062 DOID:0080467 DOID:0112202 developmental and epileptic encephalopathy MONDO:0010398 syndromic X-linked intellectual disability 14 MONDO:0020119 DOID:0060821 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010402 syndromic X-linked intellectual disability 94 MONDO:0020119 DOID:0060823 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010404 X-linked non progressive cerebellar ataxia MONDO:0016612 DOID:0111833 DOID:0111828 X-linked cerebellar ataxia MONDO:0010406 chromosome Xp11.22 duplication syndrome MONDO:0019181 DOID:0112037 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010407 intellectual disability, X-linked syndromic, Turner type MONDO:0020119 DOID:0060811 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0002254 DOID:0111931 DOID:225 syndromic disease MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type MONDO:0020119 DOID:0060813 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0020119 DOID:0060807 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010422 Alzheimer disease 16 MONDO:0004975 DOID:0110036 DOID:10652 Alzheimer disease MONDO:0010425 Lisch epithelial corneal dystrophy MONDO:0000763 DOID:0060450 DOID:0060440 epithelial and subepithelial corneal dystrophy MONDO:0010426 X-linked endothelial corneal dystrophy MONDO:0000766 DOID:0060446 DOID:0060443 corneal endothelial dystrophy MONDO:0010427 syndromic X-linked intellectual disability Raymond type MONDO:0020119 DOID:0060824 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010429 intellectual disability, X-linked 96 MONDO:0019181 DOID:0112035 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010430 intellectual disability, X-linked 97 MONDO:0019181 DOID:0112046 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010431 Joubert syndrome 10 MONDO:0018772 DOID:0110981 DOID:0050777 Joubert syndrome MONDO:0010435 nystagmus 6, congenital, X-linked MONDO:0005712 DOID:0111795 DOID:9649 congenital nystagmus MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0000732 DOID:0111502 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0010442 46,XX sex reversal 3 MONDO:0100249 DOID:0111762 DOID:0111760 46,XX testicular disorder of sex development MONDO:0010447 intellectual disability, X-linked 19 MONDO:0019181 DOID:0112019 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010450 intellectual disability, X-linked 89 MONDO:0019181 DOID:0112031 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010451 intellectual disability, X-linked 41 MONDO:0019181 DOID:0112058 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010452 intellectual disability, X-linked 90 MONDO:0019181 DOID:0112041 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010453 intellectual disability, X-linked 92 MONDO:0019181 DOID:0112032 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010454 intellectual disability, X-linked 88 MONDO:0019181 DOID:0112053 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0015131 DOID:0080319 DOID:628 combined immunodeficiency MONDO:0010460 syndromic X-linked intellectual disability 17 MONDO:0020119 DOID:0060803 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010461 syndromic X-linked intellectual disability Nascimento type MONDO:0020119 DOID:0060820 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type MONDO:0020119 DOID:0060819 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0100247 DOID:0080139 DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0010468 aneurysm, intracranial berry, 5 MONDO:0016483 DOID:0080968 DOID:0060228 intracranial berry aneurysm MONDO:0010471 Cornelia de Lange syndrome 5 MONDO:0016033 DOID:0080509 DOID:11725 Cornelia de Lange syndrome MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0100062 DOID:0080470 DOID:0112202 developmental and epileptic encephalopathy MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO:0020119 DOID:0060828 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010474 linear skin defects with multiple congenital anomalies 2 MONDO:0010672 DOID:0111877 DOID:0111875 linear skin defects with multiple congenital anomalies MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO:0002254 DOID:0111140 DOID:225 syndromic disease MONDO:0010476 neurodegeneration with brain iron accumulation 5 MONDO:0018307 DOID:0110739 DOID:0110734 neurodegeneration with brain iron accumulation MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0005501 DOID:0070265 DOID:0050571 congenital disorder of glycosylation type II MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 MONDO:0018994 DOID:0110207 DOID:0050542 Charcot-Marie-Tooth disease type X MONDO:0010484 hearing loss, X-linked 6 MONDO:0019586 DOID:0111740 DOID:0050566 X-linked nonsyndromic hearing loss MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0000425 DOID:0111811 DOID:0050735 X-linked disease MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0016073 DOID:0111811 DOID:0080636 syndromic microphthalmia MONDO:0010486 Olmsted syndrome, X-linked MONDO:0031421 DOID:0112012 DOID:0112011 Olmsted syndrome MONDO:0010487 intellectual disability, X-linked 99 MONDO:0019181 DOID:0112026 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010488 intellectual disability, X-linked 100 MONDO:0019181 DOID:0112040 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010489 intellectual disability, X-linked 101 MONDO:0019181 DOID:0112048 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0005500 DOID:0080574 DOID:0050570 congenital disorder of glycosylation type I MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MONDO:0015253 DOID:0111897 DOID:1339 Diamond-Blackfan anemia MONDO:0010494 linear skin defects with multiple congenital anomalies 3 MONDO:0010672 DOID:0111876 DOID:0111875 linear skin defects with multiple congenital anomalies MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:0020119 DOID:0112056 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010499 Ritscher-Schinzel syndrome 2 MONDO:0019078 DOID:0060572 DOID:0060565 Ritscher-Schinzel syndrome MONDO:0010501 syndromic X-linked intellectual disability 34 MONDO:0020119 DOID:0060817 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted MONDO:0020119 DOID:0112025 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010503 Bartter disease type 5 MONDO:0015231 DOID:0110147 DOID:445 Bartter syndrome MONDO:0010504 immunodeficiency 47 MONDO:0003778 DOID:0112002 DOID:612 inborn error of immunity MONDO:0010508 intellectual disability, X-linked 103 MONDO:0019181 DOID:0112020 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010509 intellectual disability, X-linked 104 MONDO:0019181 DOID:0112018 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010510 intellectual disability, X-linked 105 MONDO:0019181 DOID:0112036 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked MONDO:0018801 DOID:0111863 DOID:0111862 congenital bilateral absence of vas deferens MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type MONDO:0020119 DOID:0070538 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0015131 DOID:0112001 DOID:0111962 combined immunodeficiency MONDO:0010515 Meester-Loeys syndrome MONDO:0002254 DOID:0111861 DOID:225 syndromic disease MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked MONDO:0016575 DOID:0111850 DOID:9562 primary ciliary dyskinesia MONDO:0010520 X-linked Alport syndrome MONDO:0018965 DOID:0110034 DOID:10983 Alport syndrome MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 MONDO:0019507 DOID:0110059 DOID:2187 amelogenesis imperfecta MONDO:0010526 Fabry disease MONDO:0019255 DOID:14499 DOID:1927 sphingolipidosis MONDO:0010529 X-linked spinocerebellar ataxia type 3 MONDO:0016612 DOID:0111831 DOID:0111828 X-linked cerebellar ataxia MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MONDO:0001516 DOID:0111827 DOID:12377 spinal muscular atrophy MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0016612 DOID:0111832 DOID:0111828 X-linked cerebellar ataxia MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0020119 DOID:0050681 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010543 Barth syndrome MONDO:0017359 DOID:0050476 DOID:0060336 3-methylglutaconic aciduria MONDO:0010547 X-linked progressive cerebellar ataxia MONDO:0016612 DOID:0111829 DOID:0111828 X-linked cerebellar ataxia MONDO:0010548 spinocerebellar ataxia, X-linked 2 MONDO:0016612 DOID:0111830 DOID:0111828 X-linked cerebellar ataxia MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:0018994 DOID:0110209 DOID:0050542 Charcot-Marie-Tooth disease type X MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 MONDO:0018994 DOID:0110208 DOID:0050542 Charcot-Marie-Tooth disease type X MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 MONDO:0018994 DOID:0110211 DOID:0050542 Charcot-Marie-Tooth disease type X MONDO:0010554 Abruzzo-Erickson syndrome MONDO:0002254 DOID:0111826 DOID:225 syndromic disease MONDO:0010557 choroideremia MONDO:0001898 DOID:9821 DOID:1417 optic choroid disorder MONDO:0010560 cleft palate with or without ankyloglossia, X-linked MONDO:0016064 DOID:0060613 DOID:674 cleft palate MONDO:0010563 blue cone monochromacy MONDO:0018852 DOID:0050679 DOID:13911 achromatopsia MONDO:0010563 blue cone monochromacy MONDO:0020605 DOID:0050679 DOID:0080012 X-linked recessive disease MONDO:0010565 red color blindness MONDO:0001703 DOID:13910 DOID:13399 color vision disorder MONDO:0010568 Aicardi syndrome MONDO:0002254 DOID:8461 DOID:225 syndromic disease MONDO:0010570 craniofrontonasal syndrome MONDO:0002254 DOID:14737 DOID:225 syndromic disease MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0020119 DOID:0060800 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010576 X-linked mixed hearing loss with perilymphatic gusher MONDO:0019586 DOID:0111737 DOID:0050566 X-linked nonsyndromic hearing loss MONDO:0010577 hearing loss, X-linked 1 MONDO:0019586 DOID:0111739 DOID:0050566 X-linked nonsyndromic hearing loss MONDO:0010581 diabetes insipidus, nephrogenic, X-linked MONDO:0016383 DOID:0081060 DOID:12387 nephrogenic diabetes insipidus MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia MONDO:0016535 DOID:0111664 DOID:14793 hypohidrotic ectodermal dysplasia MONDO:0010588 exudative vitreoretinopathy 2, X-linked MONDO:0000425 DOID:0111413 DOID:0050735 X-linked disease MONDO:0010588 exudative vitreoretinopathy 2, X-linked MONDO:0019516 DOID:0111413 DOID:0050535 exudative vitreoretinopathy MONDO:0010589 Aarskog-Scott syndrome, X-linked MONDO:0021005 DOID:6683 DOID:0111824 faciodigitogenital syndrome MONDO:0010600 granulomatous disease, chronic, X-linked MONDO:0018305 DOID:0070195 DOID:3265 chronic granulomatous disease MONDO:0010613 inborn glycerol kinase deficiency MONDO:0019052 DOID:0060363 DOID:655 inborn errors of metabolism MONDO:0010615 isolated growth hormone deficiency type III MONDO:0000050 DOID:0060875 DOID:0060870 isolated congenital growth hormone deficiency MONDO:0010619 X-linked dominant hypophosphatemic rickets MONDO:0020604 DOID:0050445 DOID:0080009 X-linked dominant disease MONDO:0010622 recessive X-linked ichthyosis MONDO:0020605 DOID:1700 DOID:0080012 X-linked recessive disease MONDO:0010626 hyper-IgM syndrome type 1 MONDO:0003947 DOID:6620 DOID:0080544 hyper-IgM syndrome MONDO:0010627 X-linked lymphoproliferative syndrome MONDO:0016537 DOID:0060705 DOID:0060704 lymphoproliferative syndrome MONDO:0010632 developmental and epileptic encephalopathy, 1 MONDO:0100062 DOID:0080468 DOID:0112202 developmental and epileptic encephalopathy MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked MONDO:0000136 DOID:0080754 DOID:0080753 keratosis follicularis spinulosa decalvans MONDO:0010645 oculocerebrorenal syndrome MONDO:0002254 DOID:1056 DOID:225 syndromic disease MONDO:0010647 spermatogenic failure, X-linked, 2 MONDO:0004983 DOID:0070185 DOID:0111910 spermatogenic failure MONDO:0010650 Melnick-Needles syndrome MONDO:0018233 DOID:0111788 DOID:0111782 otopalatodigital syndrome spectrum disorder MONDO:0010651 Menkes disease MONDO:0004689 DOID:1838 DOID:896 inborn metal metabolism disorder MONDO:0010653 Renpenning syndrome MONDO:0020119 DOID:0060179 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010654 Partington syndrome MONDO:0020119 DOID:14744 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010656 intellectual disability, X-linked 1 MONDO:0019181 DOID:0112038 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010658 syndromic X-linked intellectual disability 12 MONDO:0020119 DOID:0060804 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010660 intellectual disability, X-linked 9 MONDO:0019181 DOID:0112034 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:0020119 DOID:0081123 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0020119 DOID:0060802 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010665 Wilson-Turner syndrome MONDO:0020119 DOID:0060814 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010667 Prieto syndrome MONDO:0020119 DOID:0060805 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010671 microphthalmia, syndromic 1 MONDO:0016073 DOID:0111799 DOID:0080636 syndromic microphthalmia MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019249 DOID:12799 DOID:12798 mucopolysaccharidosis MONDO:0010679 Duchenne muscular dystrophy MONDO:0020121 DOID:11723 DOID:9884 muscular dystrophy MONDO:0010683 X-linked myotubular myopathy MONDO:0018947 DOID:0111225 DOID:14717 centronuclear myopathy MONDO:0010688 hereditary sensory neuropathy X-linked MONDO:0015364 DOID:0070159 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0018994 DOID:0110212 DOID:0050542 Charcot-Marie-Tooth disease type X MONDO:0010693 nystagmus 1, congenital, X-linked MONDO:0005712 DOID:0111790 DOID:9649 congenital nystagmus MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0018994 DOID:0110210 DOID:0050542 Charcot-Marie-Tooth disease type X MONDO:0010712 panhypopituitarism, X-linked MONDO:0019591 DOID:0111779 DOID:9410 panhypopituitarism MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0019046 DOID:3210 DOID:0060786 leukodystrophy MONDO:0010720 partial androgen insensitivity syndrome MONDO:0019154 DOID:0080776 DOID:4674 androgen insensitivity syndrome MONDO:0010723 retinitis pigmentosa 2 MONDO:0019200 DOID:0110415 DOID:10584 retinitis pigmentosa MONDO:0010725 X-linked retinoschisis MONDO:0004579 DOID:0060763 DOID:8465 retinoschisis MONDO:0010726 Rett syndrome MONDO:0000594 DOID:1206 DOID:0060040 pervasive developmental disorder MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0019064 DOID:0110773 DOID:2476 hereditary spastic paraplegia MONDO:0010736 split hand-foot malformation 2 MONDO:0016576 DOID:0090027 DOID:0090020 split hand-foot malformation MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked MONDO:0019667 DOID:0080362 DOID:0112284 spondyloepiphyseal dysplasia tarda MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0000477 DOID:0090057 DOID:0050836 focal dystonia MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus MONDO:0008642 DOID:0111766 DOID:14679 VACTERL/vater association MONDO:0010761 retinitis pigmentosa Y-linked MONDO:0000428 DOID:0110418 DOID:0050738 Y-linked disease MONDO:0010761 retinitis pigmentosa Y-linked MONDO:0019200 DOID:0110418 DOID:10584 retinitis pigmentosa MONDO:0010764 hearing loss, Y-linked 1 MONDO:0033304 DOID:0111759 DOID:0111757 nonsyndromic deafness, Y-linked MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0001967 DOID:14448 DOID:14447 gonadal dysgenesis MONDO:0010767 spermatogenic failure, Y-linked, 2 MONDO:0004983 DOID:0070187 DOID:0111910 spermatogenic failure MONDO:0010772 Leber optic atrophy and dystonia MONDO:0020478 DOID:0111755 DOID:0111754 Leber plus disease MONDO:0010775 retinitis pigmentosa-deafness syndrome MONDO:0019501 DOID:0110829 DOID:0050439 Usher syndrome MONDO:0010782 myopathy, lactic acidosis, and sideroblastic anemia 3 MONDO:0000863 DOID:0111184 DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0010787 Kearns-Sayre syndrome MONDO:0005181 DOID:12934 DOID:12558 progressive external ophthalmoplegia MONDO:0010789 MELAS syndrome MONDO:0004675 DOID:3687 DOID:890 mitochondrial encephalomyopathy MONDO:0010790 MERRF syndrome MONDO:0004675 DOID:310 DOID:890 mitochondrial encephalomyopathy MONDO:0010800 Wolfram syndrome, mitochondrial form MONDO:0018105 DOID:0080583 DOID:10632 Wolfram syndrome MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0002254 DOID:0111733 DOID:225 syndromic disease MONDO:0010805 bladder exstrophy MONDO:0017919 DOID:0080174 DOID:0080173 exstrophy-epispadias complex MONDO:0010806 retinitis pigmentosa 13 MONDO:0019200 DOID:0110403 DOID:10584 retinitis pigmentosa MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 MONDO:0019588 DOID:0110477 DOID:0050565 hearing loss, autosomal recessive MONDO:0010808 fatal familial insomnia MONDO:0005429 DOID:0050433 DOID:649 prion disease MONDO:0010809 familial chronic myelocytic leukemia-like syndrome MONDO:0011996 DOID:0060761 DOID:8552 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0010811 benign prostatic hyperplasia MONDO:0003105 DOID:11132 DOID:47 prostate disorder MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome MONDO:0002254 DOID:0060644 DOID:225 syndromic disease MONDO:0010815 spondyloepiphyseal dysplasia tarda with characteristic facies MONDO:0019667 DOID:0112289 DOID:0112284 spondyloepiphyseal dysplasia tarda MONDO:0010816 Qazi Markouizos syndrome MONDO:0002254 DOID:0050740 DOID:225 syndromic disease MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A MONDO:0019587 DOID:0110558 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0010818 retinitis pigmentosa 12 MONDO:0019200 DOID:0110358 DOID:10584 retinitis pigmentosa MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 MONDO:0017279 DOID:0060368 DOID:0060894 young-onset Parkinson disease MONDO:0010822 Warburg micro syndrome 1 MONDO:0016649 DOID:0110716 DOID:0060237 Warburg micro syndrome MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:0015776 DOID:0110853 DOID:2580 rhizomelic chondrodysplasia punctata MONDO:0010827 retinitis pigmentosa 14 MONDO:0019200 DOID:0110381 DOID:10584 retinitis pigmentosa MONDO:0010828 retinitis pigmentosa 11 MONDO:0019200 DOID:0110408 DOID:10584 retinitis pigmentosa MONDO:0010832 Bardet-Biedl syndrome 3 MONDO:0015229 DOID:0110125 DOID:1935 Bardet-Biedl syndrome MONDO:0010837 primary hyperparathyroidism MONDO:0001741 DOID:11202 DOID:13543 hyperparathyroidism MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 MONDO:0015362 DOID:0111215 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0010842 multiple cutaneous and mucosal venous malformations MONDO:0000426 DOID:0050792 DOID:0050736 autosomal dominant disease MONDO:0010844 epiphyseal dysplasia, multiple, 2 MONDO:0015627 DOID:0070298 DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:0010854 Toriello-Lacassie-Droste syndrome MONDO:0019287 DOID:0111705 DOID:2121 ectodermal dysplasia syndrome MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 MONDO:0019588 DOID:0110488 DOID:0050565 hearing loss, autosomal recessive MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0019064 DOID:0110811 DOID:2476 hereditary spastic paraplegia MONDO:0010879 CODAS syndrome MONDO:0002254 DOID:0111274 DOID:225 syndromic disease MONDO:0010894 maturity-onset diabetes of the young type 3 MONDO:0018911 DOID:0111102 DOID:0050524 maturity-onset diabetes of the young MONDO:0010895 ABCD syndrome MONDO:0006025 DOID:0050600 DOID:0050737 autosomal recessive disease MONDO:0010896 pigment dispersion syndrome MONDO:0005328 DOID:0060680 DOID:5614 eye disorder MONDO:0010897 schizophrenia 3 MONDO:0005090 DOID:0070079 DOID:5419 schizophrenia MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 MONDO:0020300 DOID:0060682 DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0010905 cone-rod dystrophy 1 MONDO:0015993 DOID:0111009 DOID:0050572 cone-rod dystrophy MONDO:0010908 loose anagen syndrome MONDO:0004907 DOID:0111702 DOID:987 alopecia MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement MONDO:0007614 DOID:0081017 DOID:0080143 congenital fibrosis of extraocular muscles MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A MONDO:0019587 DOID:0110573 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0010916 polycystic kidney disease 3 with or without polycystic liver disease MONDO:0004691 DOID:0110860 DOID:898 autosomal dominant polycystic kidney disease MONDO:0010924 D-2-hydroxyglutaric aciduria MONDO:0016001 DOID:0050575 DOID:0050573 2-hydroxyglutaric aciduria MONDO:0010926 familial hypocalciuric hypercalcemia 3 MONDO:0018458 DOID:0060702 DOID:0060699 familial hypocalciuric hypercalcemia MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 MONDO:0019588 DOID:0110498 DOID:0050565 hearing loss, autosomal recessive MONDO:0010945 retinitis pigmentosa 17 MONDO:0019200 DOID:0110404 DOID:10584 retinitis pigmentosa MONDO:0010946 hypertrophic cardiomyopathy 6 MONDO:0024573 DOID:0110312 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0010949 Charcot-Marie-Tooth disease type 2B MONDO:0018993 DOID:0110159 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0010953 Fanconi anemia complementation group E MONDO:0019391 DOID:0111084 DOID:13636 Fanconi anemia MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 MONDO:0019587 DOID:0110584 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0010964 epiphyseal dysplasia, multiple, 3 MONDO:0015627 DOID:0070304 DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 MONDO:0019588 DOID:0110512 DOID:0050565 hearing loss, autosomal recessive MONDO:0010966 achondrogenesis type IB MONDO:0019648 DOID:0080055 DOID:0080043 achondrogenesis MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 MONDO:0019588 DOID:0110520 DOID:0050565 hearing loss, autosomal recessive MONDO:0010969 cone-rod dystrophy 5 MONDO:0015993 DOID:0111010 DOID:0050572 cone-rod dystrophy MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 MONDO:0019587 DOID:0110575 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0010979 Timothy syndrome MONDO:0000426 DOID:0060173 DOID:0050736 autosomal dominant disease MONDO:0010984 Usher syndrome type 1D MONDO:0010168 DOID:0110831 DOID:0110826 Usher syndrome type 1 MONDO:0010985 epilepsy, familial adult myoclonic, 1 MONDO:0000160 DOID:0111690 DOID:0111689 epilepsy, familial adult myoclonic MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0019588 DOID:0110535 DOID:0050565 hearing loss, autosomal recessive MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 MONDO:0019588 DOID:0110527 DOID:0050565 hearing loss, autosomal recessive MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MONDO:0017771 DOID:0112179 DOID:0112177 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0010992 Ayme-Gripp syndrome MONDO:0002254 DOID:0111688 DOID:225 syndromic disease MONDO:0010995 Charcot-Marie-Tooth disease type 1C MONDO:0019011 DOID:0110151 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0005500 DOID:0080556 DOID:0050570 congenital disorder of glycosylation type I MONDO:0011001 Brugada syndrome 1 MONDO:0015263 DOID:0110218 DOID:0050451 Brugada syndrome MONDO:0011010 Matthew-Wood syndrome MONDO:0016073 DOID:0111807 DOID:0080636 syndromic microphthalmia MONDO:0011012 African iron overload MONDO:0006507 DOID:0111033 DOID:2352 hereditary hemochromatosis MONDO:0011013 autosomal dominant hypocalcemia 1 MONDO:0018543 DOID:0090107 DOID:0090109 autosomal dominant hypocalcemia MONDO:0011014 pleuropulmonary blastoma MONDO:0005933 DOID:4769 DOID:4765 pulmonary blastoma MONDO:0011021 neuronal intestinal dysplasia, type B MONDO:0000858 DOID:0080680 DOID:0080072 neuronal intestinal dysplasia MONDO:0011022 Potocki-Shaffer syndrome MONDO:0002254 DOID:0111687 DOID:225 syndromic disease MONDO:0011026 autosomal recessive congenital ichthyosis 4A MONDO:0017265 DOID:0060712 DOID:0060655 autosomal recessive congenital ichthyosis MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F MONDO:0015152 DOID:0110280 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 MONDO:0019587 DOID:0110542 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 MONDO:0019587 DOID:0110543 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO:0021060 DOID:0111683 DOID:0080690 RASopathy MONDO:0011045 MMEP syndrome MONDO:0016073 DOID:0111803 DOID:0080636 syndromic microphthalmia MONDO:0011057 cerebrovascular disorder MONDO:0005560 DOID:6713 DOID:936 brain disorder MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 MONDO:0019587 DOID:0110593 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 MONDO:0018995 DOID:0110191 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 MONDO:0019588 DOID:0110467 DOID:0050565 hearing loss, autosomal recessive MONDO:0011070 van Maldergem syndrome 1 MONDO:0017813 DOID:0080585 DOID:0060238 van Maldergem syndrome MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 MONDO:0019587 DOID:0110591 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011075 retinitis pigmentosa 18 MONDO:0019200 DOID:0110356 DOID:10584 retinitis pigmentosa MONDO:0011076 myofibrillar myopathy 1 MONDO:0018943 DOID:0080092 DOID:0080307 myofibrillar myopathy MONDO:0011085 Charcot-Marie-Tooth disease type 4D MONDO:0018995 DOID:0110186 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0011087 inflammatory bowel disease 2 MONDO:0005265 DOID:0110900 DOID:0050589 inflammatory bowel disease MONDO:0011091 Charcot-Marie-Tooth disease type 2D MONDO:0018993 DOID:0110164 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0019249 DOID:0050809 DOID:12798 mucopolysaccharidosis MONDO:0011097 Axenfeld-Rieger syndrome type 2 MONDO:0019187 DOID:0110121 DOID:14686 Axenfeld-Rieger syndrome MONDO:0011099 human HOXA1 syndromes MONDO:0006025 DOID:0050682 DOID:0050737 autosomal recessive disease MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 MONDO:0019587 DOID:0110544 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A MONDO:0019587 DOID:0110564 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011104 cataract 3 multiple types MONDO:0005129 DOID:0110269 DOID:83 cataract MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO:0003037 DOID:0110711 DOID:4535 hypotrichosis MONDO:0011113 Charcot-Marie-Tooth disease type 4C MONDO:0018995 DOID:0110183 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0011122 obesity disorder MONDO:0003916 DOID:9970 DOID:654 overnutrition MONDO:0011125 trichothiodystrophy 1, photosensitive MONDO:0002470 DOID:0111873 DOID:2960 photosensitive trichothiodystrophy MONDO:0011128 Sheldon-hall syndrome MONDO:0019942 DOID:0111599 DOID:0050646 distal arthrogryposis MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0015974 DOID:0060769 DOID:627 severe combined immunodeficiency MONDO:0011136 Quebec platelet disorder MONDO:0000009 DOID:0111050 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0011137 retinitis pigmentosa 19 MONDO:0019200 DOID:0110354 DOID:10584 retinitis pigmentosa MONDO:0011143 cone-rod dystrophy 6 MONDO:0015993 DOID:0111011 DOID:0050572 cone-rod dystrophy MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:0018237 DOID:0060385 DOID:0060379 acrofacial dysostosis MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:0015762 DOID:0070222 DOID:0070221 progressive familial intrahepatic cholestasis MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 MONDO:0019587 DOID:0110545 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 MONDO:0019588 DOID:0110470 DOID:0050565 hearing loss, autosomal recessive MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G MONDO:0015152 DOID:0110281 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0011175 Friedreich ataxia 2 MONDO:0100339 DOID:0111219 DOID:12705 Friedreich ataxia MONDO:0011177 ectodermal dysplasia 4, hair/nail type MONDO:0019071 DOID:0111658 DOID:0111655 pure hair and nail ectodermal dysplasia MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 MONDO:0007614 DOID:0081016 DOID:0080143 congenital fibrosis of extraocular muscles MONDO:0011183 Paget disease of bone 2, early-onset MONDO:0005382 DOID:0081365 DOID:5408 bone Paget disease MONDO:0011185 Thiel-Behnke corneal dystrophy MONDO:0000764 DOID:0060455 DOID:0060441 epithelial-stromal TGFBI dystrophy MONDO:0011186 Usher syndrome type 1F MONDO:0010168 DOID:0110832 DOID:0110826 Usher syndrome type 1 MONDO:0011190 nephronophthisis 2 MONDO:0019005 DOID:0111113 DOID:12712 nephronophthisis MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A MONDO:0019588 DOID:0110473 DOID:0050565 hearing loss, autosomal recessive MONDO:0011193 cone dystrophy 3 MONDO:0015993 DOID:0080314 DOID:0050572 cone-rod dystrophy MONDO:0011195 Usher syndrome type 1E MONDO:0010168 DOID:0110833 DOID:0110826 Usher syndrome type 1 MONDO:0011198 spondyloepimetaphyseal dysplasia, Missouri type MONDO:0100510 DOID:0080030 DOID:0080027 spondyloepimetaphyseal dysplasia MONDO:0011200 torsion dystonia 7 MONDO:0000477 DOID:0090040 DOID:0050836 focal dystonia MONDO:0011201 tremor, hereditary essential, 2 MONDO:0003233 DOID:0111429 DOID:4990 essential tremor MONDO:0011211 axial spondylometaphyseal dysplasia MONDO:0016763 DOID:0112299 DOID:0112295 spondylometaphyseal dysplasia MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:0015762 DOID:0070223 DOID:0070221 progressive familial intrahepatic cholestasis MONDO:0011216 hemochromatosis type 2A MONDO:0019257 DOID:0111027 DOID:0111034 hemochromatosis type 2 MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0017265 DOID:0060720 DOID:0060655 autosomal recessive congenital ichthyosis MONDO:0011219 Fried's tooth and nail syndrome MONDO:0019287 DOID:0111661 DOID:2121 ectodermal dysplasia syndrome MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 MONDO:0019587 DOID:0110546 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011231 febrile seizures, familial, 2 MONDO:0000032 DOID:0111310 DOID:0111297 febrile seizures, familial MONDO:0011232 migraine, familial hemiplegic, 2 MONDO:0000700 DOID:0111182 DOID:0060178 familial hemiplegic migraine MONDO:0011233 Axenfeld-Rieger syndrome type 3 MONDO:0019187 DOID:0110122 DOID:14686 Axenfeld-Rieger syndrome MONDO:0011244 Marshall-Smith syndrome MONDO:0002254 DOID:0050858 DOID:225 syndromic disease MONDO:0011246 megaconial type congenital muscular dystrophy MONDO:0019950 DOID:0110632 DOID:0050557 congenital muscular dystrophy MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0005500 DOID:0080554 DOID:0050570 congenital disorder of glycosylation type I MONDO:0011259 retinitis pigmentosa 22 MONDO:0019200 DOID:0110400 DOID:10584 retinitis pigmentosa MONDO:0011264 torsion dystonia 6 MONDO:0000476 DOID:0090039 DOID:0050835 generalized dystonia MONDO:0011266 myotonic dystrophy type 2 MONDO:0016107 DOID:0050759 DOID:450 myotonic dystrophy MONDO:0011269 psoriasis 2 MONDO:0005083 DOID:0080475 DOID:8893 psoriasis MONDO:0011272 retinitis pigmentosa 25 MONDO:0019200 DOID:0110384 DOID:10584 retinitis pigmentosa MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type MONDO:0019696 DOID:0080050 DOID:0080049 acromesomelic dysplasia MONDO:0011276 orofacial cleft 2 MONDO:0000358 DOID:0080396 DOID:0050567 orofacial cleft MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 MONDO:0019588 DOID:0110472 DOID:0050565 hearing loss, autosomal recessive MONDO:0011281 congenital myasthenic syndrome 5 MONDO:0018940 DOID:0110667 DOID:3635 congenital myasthenic syndrome MONDO:0011283 mitochondrial DNA depletion syndrome 1 MONDO:0018158 DOID:0080119 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0011284 astigmatism MONDO:0004892 DOID:11782 DOID:9835 refractive error MONDO:0011285 age related macular degeneration 1 MONDO:0005150 DOID:0110014 DOID:10871 age-related macular degeneration MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 MONDO:0019588 DOID:0110468 DOID:0050565 hearing loss, autosomal recessive MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0005500 DOID:0080555 DOID:0050570 congenital disorder of glycosylation type I MONDO:0011294 schizophrenia 5 MONDO:0005090 DOID:0070081 DOID:5419 schizophrenia MONDO:0011295 schizophrenia 7 MONDO:0005090 DOID:0070083 DOID:5419 schizophrenia MONDO:0011296 Meckel syndrome, type 2 MONDO:0018921 DOID:0070116 DOID:0050778 Meckel syndrome MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 MONDO:0020300 DOID:0060683 DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0011298 schizophrenia 8 MONDO:0005090 DOID:0070084 DOID:5419 schizophrenia MONDO:0011299 Huntington disease-like 1 MONDO:0005429 DOID:0090103 DOID:649 prion disease MONDO:0011301 pseudohypoparathyroidism type 1B MONDO:0019992 DOID:0080222 DOID:4184 pseudohypoparathyroidism MONDO:0011307 schizophrenia 2 MONDO:0005090 DOID:0070078 DOID:5419 schizophrenia MONDO:0011309 familial gestational hyperthyroidism MONDO:0004425 DOID:0081102 DOID:7998 hyperthyroidism MONDO:0011325 Fanconi anemia complementation group F MONDO:0019391 DOID:0111088 DOID:13636 Fanconi anemia MONDO:0011331 congenital chylothorax MONDO:0002037 DOID:0060646 DOID:1532 pleural disorder MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0000426 DOID:0112199 DOID:0050736 autosomal dominant disease MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0019675 DOID:0112199 DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0005501 DOID:0070258 DOID:0050571 congenital disorder of glycosylation type II MONDO:0011346 xanthinuria type II MONDO:0018106 DOID:0070453 DOID:0060236 hereditary xanthinuria MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 MONDO:0019587 DOID:0110548 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 MONDO:0019588 DOID:0110479 DOID:0050565 hearing loss, autosomal recessive MONDO:0011355 cone-rod dystrophy 7 MONDO:0015993 DOID:0111012 DOID:0050572 cone-rod dystrophy MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 MONDO:0019588 DOID:0110469 DOID:0050565 hearing loss, autosomal recessive MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 MONDO:0019588 DOID:0110471 DOID:0050565 hearing loss, autosomal recessive MONDO:0011365 blepharophimosis - intellectual disability syndrome, SBBYS type MONDO:0000734 DOID:0060290 DOID:0060289 Ohdo syndrome and variants MONDO:0011381 dominant beta-thalassemia MONDO:0019402 DOID:0080770 DOID:12241 beta thalassemia MONDO:0011382 sickle cell anemia MONDO:0006025 DOID:10923 DOID:0050737 autosomal recessive disease MONDO:0011383 autoimmune lymphoproliferative syndrome type 2A MONDO:0017979 DOID:0110115 DOID:6688 autoimmune lymphoproliferative syndrome MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 MONDO:0019587 DOID:0110547 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts MONDO:0019046 DOID:0080315 DOID:10579 leukodystrophy MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 MONDO:0019588 DOID:0110478 DOID:0050565 hearing loss, autosomal recessive MONDO:0011395 cone-rod dystrophy 3 MONDO:0015993 DOID:0111013 DOID:0050572 cone-rod dystrophy MONDO:0011399 alpha thalassemia spectrum MONDO:0000984 DOID:1099 DOID:10241 thalassemia MONDO:0011408 hereditary spastic paraplegia 10 MONDO:0019064 DOID:0110763 DOID:2476 hereditary spastic paraplegia MONDO:0011413 cataract 9 multiple types MONDO:0005129 DOID:0110266 DOID:83 cataract MONDO:0011414 Peters anomaly MONDO:0000942 DOID:0060673 DOID:10124 corneal disorder MONDO:0011414 Peters anomaly MONDO:0019503 DOID:0080610 DOID:0060648 anterior segment dysgenesis MONDO:0011415 Leber congenital amaurosis 3 MONDO:0018998 DOID:0110331 DOID:14791 Leber congenital amaurosis MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 MONDO:0018214 DOID:0111302 DOID:0060170 generalized epilepsy with febrile seizures plus MONDO:0011417 hemochromatosis type 3 MONDO:0006507 DOID:0111030 DOID:2352 hereditary hemochromatosis MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 MONDO:0014471 DOID:0050768 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0015152 DOID:0110279 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 MONDO:0010004 DOID:0060783 DOID:0060782 EEC syndrome MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations MONDO:0016660 DOID:0070293 DOID:0070296 autosomal recessive primary microcephaly MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 MONDO:0015363 DOID:0111064 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011437 microcephaly 4, primary, autosomal recessive MONDO:0016660 DOID:0070291 DOID:0070296 autosomal recessive primary microcephaly MONDO:0011438 acne MONDO:0006607 DOID:6543 DOID:9098 sebaceous gland disorder MONDO:0011441 complex regional pain syndrome type 1 MONDO:0019369 DOID:1811 DOID:3223 complex regional pain syndrome MONDO:0011442 advanced sleep phase syndrome 1 MONDO:0015609 DOID:0110011 DOID:0050628 advanced sleep phase syndrome MONDO:0011443 febrile seizures, familial, 4 MONDO:0000032 DOID:0111305 DOID:0111297 febrile seizures, familial MONDO:0011448 PPARG-related familial partial lipodystrophy MONDO:0020088 DOID:0070204 DOID:0050440 familial partial lipodystrophy MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0015487 DOID:0080357 DOID:0050713 fatal infantile encephalocardiomyopathy MONDO:0011452 hypotrichosis 7 MONDO:0003037 DOID:0110704 DOID:4535 hypotrichosis MONDO:0011456 nephronophthisis 3 MONDO:0019005 DOID:0111114 DOID:12712 nephronophthisis MONDO:0011458 Leber congenital amaurosis 4 MONDO:0018998 DOID:0110332 DOID:14791 Leber congenital amaurosis MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 MONDO:0018214 DOID:0111294 DOID:0060170 generalized epilepsy with febrile seizures plus MONDO:0011465 infundibulocystic basal cell carcinoma MONDO:0005341 DOID:4279 DOID:2513 skin basal cell carcinoma MONDO:0011471 inflammatory bowel disease 3 MONDO:0005265 DOID:0110891 DOID:0050589 inflammatory bowel disease MONDO:0011473 Leber congenital amaurosis 5 MONDO:0018998 DOID:0110215 DOID:14791 Leber congenital amaurosis MONDO:0011474 progressive familial heart block type IB MONDO:0019490 DOID:0111076 DOID:0111073 progressive familial heart block MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 MONDO:0018995 DOID:0110190 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0011479 postural orthostatic tachycardia syndrome MONDO:0000992 DOID:0111154 DOID:10273 heart conduction disease MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 MONDO:0019587 DOID:0110550 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 MONDO:0017990 DOID:0060675 DOID:0060674 catecholaminergic polymorphic ventricular tachycardia MONDO:0011485 autosomal recessive congenital ichthyosis 5 MONDO:0017265 DOID:0060714 DOID:0060655 autosomal recessive congenital ichthyosis MONDO:0011486 congenital muscular dystrophy 1B MONDO:0019950 DOID:0110634 DOID:0050557 congenital muscular dystrophy MONDO:0011488 microcephaly 3, primary, autosomal recessive MONDO:0016660 DOID:0070286 DOID:0070296 autosomal recessive primary microcephaly MONDO:0011493 Stickler syndrome type 2 MONDO:0019354 DOID:0080675 DOID:0080046 Stickler syndrome MONDO:0011502 Wolfram syndrome 2 MONDO:0018105 DOID:0110630 DOID:10632 Wolfram syndrome MONDO:0011503 cortisone reductase deficiency 1 MONDO:0000193 DOID:0090141 DOID:0090139 cortisone reductase deficiency MONDO:0011505 familial hypobetalipoproteinemia 2 MONDO:0017774 DOID:0111061 DOID:1390 hypobetalipoproteinemia MONDO:0011512 Brooke-Spiegler syndrome MONDO:0000426 DOID:0050693 DOID:0050736 autosomal dominant disease MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 MONDO:0019587 DOID:0110553 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011521 inflammatory bowel disease 7 MONDO:0005265 DOID:0110882 DOID:0050589 inflammatory bowel disease MONDO:0011522 hereditary spastic paraplegia 14 MONDO:0019064 DOID:0110767 DOID:2476 hereditary spastic paraplegia MONDO:0011523 Bardet-Biedl syndrome 6 MONDO:0015229 DOID:0110128 DOID:1935 Bardet-Biedl syndrome MONDO:0011527 Charcot-Marie-Tooth disease type 4E MONDO:0018995 DOID:0110195 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0011528 hyper-IgM syndrome type 2 MONDO:0003947 DOID:0060758 DOID:0080544 hyper-IgM syndrome MONDO:0011528 hyper-IgM syndrome type 2 MONDO:0006025 DOID:0060758 DOID:0050737 autosomal recessive disease MONDO:0011531 Noonan syndrome 2 MONDO:0018997 DOID:0060580 DOID:3490 Noonan syndrome MONDO:0011532 hereditary spastic paraplegia 13 MONDO:0019064 DOID:0110766 DOID:2476 hereditary spastic paraplegia MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0002254 DOID:0050814 DOID:225 syndromic disease MONDO:0011533 temtamy preaxial brachydactyly syndrome MONDO:0006025 DOID:0050814 DOID:0050737 autosomal recessive disease MONDO:0011534 Charcot-Marie-Tooth disease type 4G MONDO:0018995 DOID:0110196 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0011535 split hand-foot malformation 4 MONDO:0016576 DOID:0090023 DOID:0090020 split hand-foot malformation MONDO:0011537 macrocephaly-autism syndrome MONDO:0000426 DOID:0060867 DOID:0050736 autosomal dominant disease MONDO:0011539 nemaline myopathy 5 MONDO:0018958 DOID:0110936 DOID:3191 nemaline myopathy MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 MONDO:0020300 DOID:0060684 DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0011549 hypotrichosis 1 MONDO:0003037 DOID:0110698 DOID:4535 hypotrichosis MONDO:0011552 schizophrenia 10 MONDO:0005090 DOID:0070086 DOID:5419 schizophrenia MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 MONDO:0019588 DOID:0110484 DOID:0050565 hearing loss, autosomal recessive MONDO:0011558 Usher syndrome type 2C MONDO:0016484 DOID:0110839 DOID:0110827 Usher syndrome type 2 MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 MONDO:0019008 DOID:0070232 DOID:0070230 benign recurrent intrahepatic cholestasis MONDO:0011562 autosomal dominant Parkinson disease 4 MONDO:0008199 DOID:0060895 DOID:0060892 late-onset Parkinson disease MONDO:0011564 cone-rod dystrophy 8 MONDO:0015993 DOID:0111014 DOID:0050572 cone-rod dystrophy MONDO:0011565 metabolic syndrome X MONDO:0000816 DOID:14221 DOID:0060611 abdominal obesity-metabolic syndrome MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 MONDO:0019587 DOID:0110555 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011569 Charcot-Marie-Tooth disease type 2B1 MONDO:0018993 DOID:0110156 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011570 Charcot-Marie-Tooth disease type 2B2 MONDO:0018993 DOID:0110179 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011577 myopathy, proximal, and ophthalmoplegia MONDO:0019952 DOID:0080719 DOID:0081337 congenital myopathy MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 MONDO:0017338 DOID:0080133 DOID:0070330 fatal multiple mitochondrial dysfunctions syndrome MONDO:0011583 cerebral amyloid angiopathy, APP-related MONDO:0005620 DOID:0070028 DOID:9246 cerebral amyloid angiopathy MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0019391 DOID:0111089 DOID:13636 Fanconi anemia MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 MONDO:0015363 DOID:0111065 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011586 otosclerosis 2 MONDO:0005349 DOID:0060921 DOID:12185 otosclerosis MONDO:0011588 platelet-type bleeding disorder 12 MONDO:0000009 DOID:0111058 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0011592 exudative vitreoretinopathy 3 MONDO:0019516 DOID:0111409 DOID:0050535 exudative vitreoretinopathy MONDO:0011593 seizures, benign familial infantile, 2 MONDO:0017615 DOID:0081115 DOID:0060169 benign familial infantile epilepsy MONDO:0011595 nonsyndromic congenital nail disorder 7 MONDO:0019284 DOID:0080085 DOID:0080683 inherited isolated nail anomaly MONDO:0011599 birdshot chorioretinopathy MONDO:0006918 DOID:0111079 DOID:12574 posterior uveitis MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 MONDO:0019588 DOID:0110485 DOID:0050565 hearing loss, autosomal recessive MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 MONDO:0017279 DOID:0060369 DOID:0060894 young-onset Parkinson disease MONDO:0011616 holoprosencephaly 6 MONDO:0016296 DOID:0110874 DOID:4621 holoprosencephaly MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 MONDO:0019587 DOID:0110549 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0005501 DOID:0070254 DOID:0050571 congenital disorder of glycosylation type II MONDO:0011630 retinitis pigmentosa 28 MONDO:0019200 DOID:0110365 DOID:10584 retinitis pigmentosa MONDO:0011631 hemochromatosis type 4 MONDO:0006507 DOID:0111028 DOID:2352 hereditary hemochromatosis MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C MONDO:0018993 DOID:0110182 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011636 Diamond-Blackfan anemia 2 MONDO:0015253 DOID:0111885 DOID:1339 Diamond-Blackfan anemia MONDO:0011638 neuroferritinopathy MONDO:0018307 DOID:0110737 DOID:0110734 neurodegeneration with brain iron accumulation MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MONDO:0015253 DOID:0111894 DOID:1339 Diamond-Blackfan anemia MONDO:0011644 pars planitis MONDO:0004674 DOID:12731 DOID:8886 chorioretinitis MONDO:0011656 paget disease of bone 4 MONDO:0005382 DOID:0081367 DOID:5408 bone Paget disease MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 MONDO:0019587 DOID:0110554 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011658 autosomal recessive early-onset Parkinson disease 7 MONDO:0017279 DOID:0060370 DOID:0060894 young-onset Parkinson disease MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 MONDO:0019587 DOID:0110552 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011661 inflammatory bowel disease 5 MONDO:0005265 DOID:0110889 DOID:0050589 inflammatory bowel disease MONDO:0011662 pathological gambling MONDO:0001162 DOID:12399 DOID:10937 impulse control disorder MONDO:0011667 maturity-onset diabetes of the young type 4 MONDO:0018911 DOID:0111103 DOID:0050524 maturity-onset diabetes of the young MONDO:0011668 maturity-onset diabetes of the young type 6 MONDO:0018911 DOID:0111104 DOID:0050524 maturity-onset diabetes of the young MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0002254 DOID:0060858 DOID:225 syndromic disease MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0020066 DOID:0080731 DOID:13359 Ehlers-Danlos syndrome MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 MONDO:0019587 DOID:0110560 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011681 episodic ataxia type 4 MONDO:0016227 DOID:0050992 DOID:963 hereditary episodic ataxia MONDO:0011682 episodic ataxia type 3 MONDO:0016227 DOID:0050991 DOID:963 hereditary episodic ataxia MONDO:0011683 oculocutaneous albinism type 4 MONDO:0018910 DOID:0070098 DOID:0050632 oculocutaneous albinism MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F MONDO:0018993 DOID:0110163 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 MONDO:0000172 DOID:0110635 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B MONDO:0011698 glycine N-methyltransferase deficiency MONDO:0000351 DOID:0111037 DOID:0050544 disorder of methionine catabolism MONDO:0011699 inflammatory bowel disease 8 MONDO:0005265 DOID:0110904 DOID:0050589 inflammatory bowel disease MONDO:0011700 inflammatory bowel disease 6 MONDO:0005265 DOID:0110907 DOID:0050589 inflammatory bowel disease MONDO:0011701 inflammatory bowel disease 4 MONDO:0005265 DOID:0110903 DOID:0050589 inflammatory bowel disease MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 MONDO:0019587 DOID:0110563 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011709 split hand-foot malformation 5 MONDO:0016576 DOID:0090022 DOID:0090020 split hand-foot malformation MONDO:0011715 Seckel syndrome 2 MONDO:0019342 DOID:0070013 DOID:0050569 Seckel syndrome MONDO:0011716 acute hemorrhagic leukoencephalitis MONDO:0019383 DOID:10992 DOID:639 acute disseminated encephalomyelitis MONDO:0011718 primary ciliary dyskinesia 2 MONDO:0016575 DOID:0110626 DOID:9562 primary ciliary dyskinesia MONDO:0011720 spermatogenic failure 3 MONDO:0004983 DOID:0070168 DOID:0111910 spermatogenic failure MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0018949 DOID:0111187 DOID:11720 distal myopathy MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0000188 DOID:0070561 DOID:0070560 GLUT1 deficiency syndrome MONDO:0011728 benign essential blepharospasm MONDO:0000477 DOID:529 DOID:0050836 focal dystonia MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0003947 DOID:0060023 DOID:0080544 hyper-IgM syndrome MONDO:0011748 Usher syndrome type 1G MONDO:0010168 DOID:0110834 DOID:0110826 Usher syndrome type 1 MONDO:0011752 nephronophthisis 4 MONDO:0019005 DOID:0111115 DOID:12712 nephronophthisis MONDO:0011758 Hurler syndrome MONDO:0001586 DOID:0111390 DOID:12802 mucopolysaccharidosis type 1 MONDO:0011759 Hurler-Scheie syndrome MONDO:0001586 DOID:0111389 DOID:12802 mucopolysaccharidosis type 1 MONDO:0011760 Scheie syndrome MONDO:0001586 DOID:0060222 DOID:12802 mucopolysaccharidosis type 1 MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 MONDO:0019587 DOID:0110551 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 MONDO:0019588 DOID:0110480 DOID:0050565 hearing loss, autosomal recessive MONDO:0011764 autosomal dominant Parkinson disease 8 MONDO:0008199 DOID:0060371 DOID:0060892 late-onset Parkinson disease MONDO:0011765 multiple epiphyseal dysplasia type 5 MONDO:0016648 DOID:0070299 DOID:12721 multiple epiphyseal dysplasia MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 MONDO:0019588 DOID:0110490 DOID:0050565 hearing loss, autosomal recessive MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 MONDO:0015363 DOID:0111211 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0005501 DOID:0070256 DOID:0050571 congenital disorder of glycosylation type II MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 MONDO:0019588 DOID:0110489 DOID:0050565 hearing loss, autosomal recessive MONDO:0011782 angioid streaks MONDO:0005283 DOID:13401 DOID:5679 retinal disorder MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0005500 DOID:0080559 DOID:0050570 congenital disorder of glycosylation type I MONDO:0011786 allergic rhinitis MONDO:0000771 DOID:4481 DOID:0060496 allergic respiratory disease MONDO:0011786 allergic rhinitis MONDO:0003014 DOID:4481 DOID:4483 rhinitis MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0015152 DOID:0110299 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0011789 familial meningioma MONDO:0016642 DOID:4586 DOID:3565 meningioma MONDO:0011792 thyroid dyshormonogenesis 6 MONDO:0010132 DOID:0112189 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 MONDO:0019588 DOID:0110492 DOID:0050565 hearing loss, autosomal recessive MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0019064 DOID:0110816 DOID:2476 hereditary spastic paraplegia MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B MONDO:0017979 DOID:0110116 DOID:6688 autoimmune lymphoproliferative syndrome MONDO:0011812 Duane-radial ray syndrome MONDO:0000426 DOID:0060747 DOID:0050736 autosomal dominant disease MONDO:0011812 Duane-radial ray syndrome MONDO:0002254 DOID:0060747 DOID:225 syndromic disease MONDO:0011814 Smith-McCort dysplasia 1 MONDO:0015799 DOID:0081270 DOID:0060247 Smith-McCort dysplasia MONDO:0011821 Meckel syndrome, type 3 MONDO:0018921 DOID:0070117 DOID:0050778 Meckel syndrome MONDO:0011822 Bartter disease type 3 MONDO:0015231 DOID:0110144 DOID:445 Bartter syndrome MONDO:0011827 patent ductus arteriosus MONDO:0005453 DOID:13832 DOID:1682 congenital heart disease MONDO:0011828 intellectual disability, autosomal recessive 2 MONDO:0019502 DOID:0081178 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0011829 coenzyme Q10 deficiency, primary, 1 MONDO:0018151 DOID:0070238 DOID:0050730 coenzyme Q10 deficiency MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 MONDO:0019587 DOID:0110569 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011836 thyroid Hurthle cell carcinoma MONDO:0005034 DOID:8161 DOID:3962 thyroid gland follicular carcinoma MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0015722 DOID:0112174 DOID:0112172 congenital vitamin K-dependent coagulation factors deficiency MONDO:0011839 Newfoundland cone-rod dystrophy MONDO:0015993 DOID:0111015 DOID:0050572 cone-rod dystrophy MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0003996 DOID:0050659 DOID:679 basal ganglia disorder MONDO:0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0017276 DOID:0060672 DOID:9255 frontotemporal dementia MONDO:0011843 hypertrophic cardiomyopathy 25 MONDO:0024573 DOID:0110328 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0011844 myoclonic dystonia 15 MONDO:0000903 DOID:0090035 DOID:0090033 myoclonus-dystonia syndrome MONDO:0011852 nonsyndromic congenital nail disorder 8 MONDO:0019284 DOID:0080086 DOID:0080683 inherited isolated nail anomaly MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome MONDO:0016763 DOID:0112305 DOID:0112295 spondylometaphyseal dysplasia MONDO:0011864 immunodeficiency, common variable, 1 MONDO:0015517 DOID:0081144 DOID:12177 common variable immunodeficiency MONDO:0011866 pontocerebellar hypoplasia type 1A MONDO:0016396 DOID:0060265 DOID:0112322 pontocerebellar hypoplasia type 1 MONDO:0011868 lethal congenital contracture syndrome 2 MONDO:0017436 DOID:0060560 DOID:0060558 lethal congenital contracture syndrome MONDO:0011872 Griscelli syndrome type 2 MONDO:0018306 DOID:0060833 DOID:0060831 Griscelli syndrome MONDO:0011881 keratosis palmoplantaris striata 3 MONDO:0018865 DOID:0081110 DOID:0081105 striate palmoplantar keratoderma MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0018993 DOID:0110158 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0019011 DOID:0110150 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0011891 febrile seizures, familial, 8 MONDO:0000032 DOID:0111298 DOID:0111297 febrile seizures, familial MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0018993 DOID:0110165 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0018993 DOID:0110166 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0019011 DOID:0110149 DOID:0050538 Charcot-Marie-Tooth disease type 1 MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0018993 DOID:0110157 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0017615 DOID:0081116 DOID:0060169 benign familial infantile epilepsy MONDO:0011906 congenital bile acid synthesis defect 1 MONDO:0018841 DOID:0111071 DOID:0050674 congenital bile acid synthesis defect MONDO:0011907 acrocapitofemoral dysplasia MONDO:0005516 DOID:0050604 DOID:2256 osteochondrodysplasia MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 MONDO:0019588 DOID:0110495 DOID:0050565 hearing loss, autosomal recessive MONDO:0011916 Charcot-Marie-Tooth disease axonal type 2K MONDO:0018993 DOID:0110167 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 MONDO:0019587 DOID:0110571 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:0019950 DOID:0110636 DOID:0050557 congenital muscular dystrophy MONDO:0011930 epilepsy, familial adult myoclonic, 2 MONDO:0000160 DOID:0111692 DOID:0111689 epilepsy, familial adult myoclonic MONDO:0011932 hypotrichosis 6 MONDO:0003037 DOID:0110703 DOID:4535 hypotrichosis MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0005500 DOID:0080561 DOID:0050570 congenital disorder of glycosylation type I MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0005164 DOID:3507 DOID:3355 fibrosarcoma MONDO:0011935 retinitis pigmentosa 30 MONDO:0019200 DOID:0110406 DOID:10584 retinitis pigmentosa MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0016073 DOID:0111805 DOID:0080636 syndromic microphthalmia MONDO:0011937 peeling skin syndrome 4 MONDO:0019347 DOID:0070523 DOID:0060283 peeling skin syndrome MONDO:0011938 atrial septal defect 2 MONDO:0006664 DOID:0110107 DOID:1882 atrial septal defect MONDO:0011945 Gaucher disease perinatal lethal MONDO:0018150 DOID:0110960 DOID:1926 Gaucher disease MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0020135 DOID:0060272 DOID:0060264 pontocerebellar hypoplasia MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0015244 DOID:0111617 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 DOID:0070517 DOID:0070438 macular dystrophy, retinal MONDO:0011960 schizophrenia 11 MONDO:0005090 DOID:0070087 DOID:5419 schizophrenia MONDO:0011962 endometrial cancer MONDO:0002715 DOID:1380 DOID:363 uterine cancer MONDO:0011963 Joubert syndrome 2 MONDO:0018772 DOID:0110988 DOID:0050777 Joubert syndrome MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0005500 DOID:0080562 DOID:0050570 congenital disorder of glycosylation type I MONDO:0011965 familial temporal lobe epilepsy 2 MONDO:0005115 DOID:0060755 DOID:3328 temporal lobe epilepsy MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:0015152 DOID:0110278 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0005500 DOID:0080560 DOID:0050570 congenital disorder of glycosylation type I MONDO:0011971 hyper-IgM syndrome type 5 MONDO:0003947 DOID:0060759 DOID:0080544 hyper-IgM syndrome MONDO:0011972 ovarian hyperstimulation syndrome MONDO:0005558 DOID:5425 DOID:1100 ovarian disorder MONDO:0011974 retinitis pigmentosa 7 MONDO:0019200 DOID:0110383 DOID:10584 retinitis pigmentosa MONDO:0011985 hyper-IgM syndrome type 4 MONDO:0003947 DOID:0060760 DOID:0080544 hyper-IgM syndrome MONDO:0011987 cone-rod dystrophy 13 MONDO:0015993 DOID:0111016 DOID:0050572 cone-rod dystrophy MONDO:0011989 leishmaniasis MONDO:0002428 DOID:9065 DOID:2789 protozoa infectious disease MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 MONDO:0019588 DOID:0110496 DOID:0050565 hearing loss, autosomal recessive MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 MONDO:0019587 DOID:0110567 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0004643 DOID:8552 DOID:8692 myeloid leukemia MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0019312 DOID:0060540 DOID:3753 Hermansky-Pudlak syndrome MONDO:0011999 otosclerosis 3 MONDO:0005349 DOID:0060922 DOID:12185 otosclerosis MONDO:0012000 specific phobia MONDO:0003699 DOID:599 DOID:591 phobic disorder MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 MONDO:0019588 DOID:0110499 DOID:0050565 hearing loss, autosomal recessive MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 MONDO:0019588 DOID:0110497 DOID:0050565 hearing loss, autosomal recessive MONDO:0012015 nystagmus 3, congenital, autosomal dominant MONDO:0005712 DOID:0111793 DOID:9649 congenital nystagmus MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type MONDO:0016761 DOID:0112282 DOID:0112280 spondyloepiphyseal dysplasia MONDO:0012022 orofacial cleft 4 MONDO:0000358 DOID:0080398 DOID:0050567 orofacial cleft MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 MONDO:0019587 DOID:0110572 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012024 retinitis pigmentosa 26 MONDO:0019200 DOID:0110368 DOID:10584 retinitis pigmentosa MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 MONDO:0019587 DOID:0110568 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012031 platelet-type bleeding disorder 10 MONDO:0000009 DOID:0111046 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0012033 bradyopsia MONDO:0005283 DOID:0050335 DOID:5679 retinal disorder MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F MONDO:0015151 DOID:0110304 DOID:0110273 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0012037 intellectual disability, autosomal recessive 3 MONDO:0019502 DOID:0081179 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0012040 inflammatory bowel disease 9 MONDO:0005265 DOID:0110886 DOID:0050589 inflammatory bowel disease MONDO:0012041 familial adenomatous polyposis 2 MONDO:0006025 DOID:0080410 DOID:0050737 autosomal recessive disease MONDO:0012041 familial adenomatous polyposis 2 MONDO:0021055 DOID:0080410 DOID:0050424 classic familial adenomatous polyposis MONDO:0012043 Reis-Bucklers corneal dystrophy MONDO:0000764 DOID:0060453 DOID:0060441 epithelial-stromal TGFBI dystrophy MONDO:0012048 endogenous depression MONDO:0002009 DOID:1595 DOID:1470 major depressive disorder MONDO:0012049 orofaciodigital syndrome VII MONDO:0015375 DOID:0060377 DOID:4501 orofaciodigital syndrome MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0005500 DOID:0080563 DOID:0050570 congenital disorder of glycosylation type I MONDO:0012053 aneurysm, intracranial berry, 2 MONDO:0016483 DOID:0080965 DOID:0060228 intracranial berry aneurysm MONDO:0012054 schizophrenia 12 MONDO:0005090 DOID:0070088 DOID:5419 schizophrenia MONDO:0012056 Leber congenital amaurosis 9 MONDO:0018998 DOID:0110005 DOID:14791 Leber congenital amaurosis MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 MONDO:0019588 DOID:0110493 DOID:0050565 hearing loss, autosomal recessive MONDO:0012071 congenital generalized lipodystrophy type 1 MONDO:0006536 DOID:0111135 DOID:0050585 congenital generalized lipodystrophy MONDO:0012072 familial partial lipodystrophy, Kobberling type MONDO:0020088 DOID:0070207 DOID:0050440 familial partial lipodystrophy MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy MONDO:0016584 DOID:0081129 DOID:0081127 mandibuloacral dysplasia MONDO:0012078 Joubert syndrome 3 MONDO:0018772 DOID:0110998 DOID:0050777 Joubert syndrome MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 MONDO:0019587 DOID:0110557 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012085 primary ciliary dyskinesia 3 MONDO:0016575 DOID:0110599 DOID:9562 primary ciliary dyskinesia MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 MONDO:0019587 DOID:0110561 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012087 primary ciliary dyskinesia 4 MONDO:0016575 DOID:0110614 DOID:9562 primary ciliary dyskinesia MONDO:0012088 primary ciliary dyskinesia 5 MONDO:0016575 DOID:0110617 DOID:9562 primary ciliary dyskinesia MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 MONDO:0019587 DOID:0110570 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 MONDO:0019588 DOID:0110491 DOID:0050565 hearing loss, autosomal recessive MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 MONDO:0015364 DOID:0070145 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L MONDO:0018993 DOID:0110174 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0012106 microcephaly 5, primary, autosomal recessive MONDO:0016660 DOID:0070280 DOID:0070296 autosomal recessive primary microcephaly MONDO:0012111 hypertrophic cardiomyopathy 8 MONDO:0024573 DOID:0110314 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0012112 hypertrophic cardiomyopathy 10 MONDO:0024573 DOID:0110316 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0005500 DOID:0080564 DOID:0050570 congenital disorder of glycosylation type I MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0005501 DOID:0070257 DOID:0050571 congenital disorder of glycosylation type II MONDO:0012121 otosclerosis 5 MONDO:0005349 DOID:0060924 DOID:12185 otosclerosis MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0005500 DOID:0080557 DOID:0050570 congenital disorder of glycosylation type I MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0015152 DOID:0110283 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 MONDO:0000172 DOID:0110637 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B MONDO:0012139 macular dystrophy, retinal, 3 MONDO:0031166 DOID:0070440 DOID:0070438 macular dystrophy, retinal MONDO:0012155 choanal atresia MONDO:0002232 DOID:9574 DOID:2163 nasal cavity disorder MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0016763 DOID:0112300 DOID:0112295 spondylometaphyseal dysplasia MONDO:0012162 patterned macular dystrophy 2 MONDO:0020381 DOID:0060864 DOID:0060863 patterned macular dystrophy MONDO:0012166 autosomal dominant sensory ataxia 1 MONDO:0100309 DOID:0111170 DOID:0050951 hereditary ataxia MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 MONDO:0019588 DOID:0110494 DOID:0050565 hearing loss, autosomal recessive MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0002525 DOID:0111277 DOID:3146 inherited lipid metabolism disorder MONDO:0012175 cataract 28 MONDO:0005129 DOID:0110244 DOID:83 cataract MONDO:0012184 Pierson syndrome MONDO:0006025 DOID:0060852 DOID:0050737 autosomal recessive disease MONDO:0012185 spondylometaphyseal dysplasia, A4 type MONDO:0016763 DOID:0112301 DOID:0112295 spondylometaphyseal dysplasia MONDO:0012186 Fanconi anemia complementation group I MONDO:0019391 DOID:0111091 DOID:13636 Fanconi anemia MONDO:0012187 Fanconi anemia complementation group J MONDO:0019391 DOID:0111097 DOID:13636 Fanconi anemia MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:0000732 DOID:0111474 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G MONDO:0015151 DOID:0110306 DOID:0110273 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0012194 aneurysm, intracranial berry, 3 MONDO:0016483 DOID:0080966 DOID:0060228 intracranial berry aneurysm MONDO:0012195 arthrogryposis-severe scoliosis syndrome MONDO:0019942 DOID:0111610 DOID:0050646 distal arthrogryposis MONDO:0012196 autosomal dominant auditory neuropathy 1 MONDO:0019587 DOID:0060690 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012198 PCWH syndrome MONDO:0000426 DOID:0090111 DOID:0050736 autosomal dominant disease MONDO:0012198 PCWH syndrome MONDO:0002254 DOID:0090111 DOID:225 syndromic disease MONDO:0012199 posterior polymorphous corneal dystrophy 2 MONDO:0020364 DOID:0110856 DOID:0060457 posterior polymorphous corneal dystrophy MONDO:0012200 posterior polymorphous corneal dystrophy 3 MONDO:0020364 DOID:0110857 DOID:0060457 posterior polymorphous corneal dystrophy MONDO:0012203 familial hyperthyroidism due to mutations in TSH receptor MONDO:0004425 DOID:0081101 DOID:7998 hyperthyroidism MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0005500 DOID:0080558 DOID:0050570 congenital disorder of glycosylation type I MONDO:0012212 Loeys-Dietz syndrome 1 MONDO:0018954 DOID:0070235 DOID:0050466 Loeys-Dietz syndrome MONDO:0012215 myofibrillar myopathy 3 MONDO:0018943 DOID:0080094 DOID:0080307 myofibrillar myopathy MONDO:0012219 spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type MONDO:0019667 DOID:0112291 DOID:0112284 spondyloepiphyseal dysplasia tarda MONDO:0012220 Griscelli syndrome type 3 MONDO:0018306 DOID:0060834 DOID:0060831 Griscelli syndrome MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:0017779 DOID:0112318 DOID:0112317 alpha-N-acetylgalactosaminidase deficiency MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0017779 DOID:0112319 DOID:0112317 alpha-N-acetylgalactosaminidase deficiency MONDO:0012224 febrile seizures, familial, 6 MONDO:0000032 DOID:0111309 DOID:0111297 febrile seizures, familial MONDO:0012226 febrile seizures, familial, 5 MONDO:0000032 DOID:0111306 DOID:0111297 febrile seizures, familial MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 MONDO:0018993 DOID:0110155 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 MONDO:0015244 DOID:0080059 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0012245 developmental and epileptic encephalopathy, 3 MONDO:0100062 DOID:0080440 DOID:0112202 developmental and epileptic encephalopathy MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0015152 DOID:0110297 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0012250 Charcot-Marie-Tooth disease type 4H MONDO:0018995 DOID:0110192 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0012251 MEDNIK syndrome MONDO:0002254 DOID:0060483 DOID:225 syndromic disease MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c MONDO:0007614 DOID:0081019 DOID:0080143 congenital fibrosis of extraocular muscles MONDO:0012267 holoprosencephaly 8 MONDO:0016296 DOID:0110879 DOID:4621 holoprosencephaly MONDO:0012268 AIDS MONDO:0005109 DOID:635 DOID:526 HIV infectious disease MONDO:0012270 Tukel syndrome MONDO:0007614 DOID:0081021 DOID:0080143 congenital fibrosis of extraocular muscles MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 MONDO:0019588 DOID:0110505 DOID:0050565 hearing loss, autosomal recessive MONDO:0012274 acromesomelic dysplasia 3 MONDO:0019696 DOID:0081237 DOID:0080049 acromesomelic dysplasia MONDO:0012275 fetal valproate syndrome MONDO:0002254 DOID:0060471 DOID:225 syndromic disease MONDO:0012277 myofibrillar myopathy 4 MONDO:0018943 DOID:0080095 DOID:0080307 myofibrillar myopathy MONDO:0012280 Goldberg-Shprintzen syndrome MONDO:0002254 DOID:0060481 DOID:225 syndromic disease MONDO:0012289 myofibrillar myopathy 5 MONDO:0018943 DOID:0080096 DOID:0080307 myofibrillar myopathy MONDO:0012290 CEDNIK syndrome MONDO:0002254 DOID:0060337 DOID:225 syndromic disease MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 MONDO:0019588 DOID:0110481 DOID:0050565 hearing loss, autosomal recessive MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0018158 DOID:0080120 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0012308 Joubert syndrome with renal defect MONDO:0018772 DOID:0110999 DOID:0050777 Joubert syndrome MONDO:0012320 migraine, familial hemiplegic, 3 MONDO:0000700 DOID:0111183 DOID:0060178 familial hemiplegic migraine MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 MONDO:0019588 DOID:0110500 DOID:0050565 hearing loss, autosomal recessive MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 MONDO:0019588 DOID:0110503 DOID:0050565 hearing loss, autosomal recessive MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 MONDO:0019588 DOID:0110509 DOID:0050565 hearing loss, autosomal recessive MONDO:0012345 acral peeling skin syndrome MONDO:0019347 DOID:0070521 DOID:0060283 peeling skin syndrome MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 MONDO:0018214 DOID:0111293 DOID:0060170 generalized epilepsy with febrile seizures plus MONDO:0012348 maturity-onset diabetes of the young type 8 MONDO:0018911 DOID:0111105 DOID:0050524 maturity-onset diabetes of the young MONDO:0012353 erythrocytosis, familial, 3 MONDO:0001115 DOID:0080338 DOID:10780 familial polycythemia MONDO:0012354 platelet-type bleeding disorder 8 MONDO:0000009 DOID:0060692 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 MONDO:0019588 DOID:0110486 DOID:0050565 hearing loss, autosomal recessive MONDO:0012363 retinitis pigmentosa 32 MONDO:0019200 DOID:0110355 DOID:10584 retinitis pigmentosa MONDO:0012367 retinitis pigmentosa 31 MONDO:0019200 DOID:0110391 DOID:10584 retinitis pigmentosa MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 MONDO:0019588 DOID:0110508 DOID:0050565 hearing loss, autosomal recessive MONDO:0012371 Noonan syndrome 3 MONDO:0018997 DOID:0060581 DOID:3490 Noonan syndrome MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 MONDO:0019588 DOID:0110504 DOID:0050565 hearing loss, autosomal recessive MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 MONDO:0019588 DOID:0110510 DOID:0050565 hearing loss, autosomal recessive MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 MONDO:0019587 DOID:0110579 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012394 multiple synostoses syndrome 2 MONDO:0017923 DOID:0081318 DOID:0050794 multiple synostoses syndrome MONDO:0012395 cataract 18 MONDO:0005129 DOID:0110238 DOID:83 cataract MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:0000904 DOID:0090132 DOID:0090131 complex cortical dysplasia with other brain malformations MONDO:0012401 congenital stromal corneal dystrophy MONDO:0020213 DOID:0060445 DOID:0060442 stromal corneal dystrophy MONDO:0012405 polyposis syndrome, hereditary mixed, 2 MONDO:0011023 DOID:0111686 DOID:0111684 hereditary mixed polyposis syndrome MONDO:0012409 isolated microphthalmia 2 MONDO:0000062 DOID:0060839 DOID:0080637 isolated microphthalmia MONDO:0012413 syndromic microphthalmia type 5 MONDO:0016073 DOID:0111806 DOID:0080636 syndromic microphthalmia MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 MONDO:0019588 DOID:0110514 DOID:0050565 hearing loss, autosomal recessive MONDO:0012419 age related macular degeneration 7 MONDO:0005150 DOID:0110019 DOID:10871 age-related macular degeneration MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 MONDO:0019588 DOID:0110506 DOID:0050565 hearing loss, autosomal recessive MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 MONDO:0019588 DOID:0110501 DOID:0050565 hearing loss, autosomal recessive MONDO:0012427 Loeys-Dietz syndrome 2 MONDO:0018954 DOID:0070234 DOID:0050466 Loeys-Dietz syndrome MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 MONDO:0009133 DOID:0070557 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0012432 Joubert syndrome 5 MONDO:0018772 DOID:0111000 DOID:0050777 Joubert syndrome MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0017359 DOID:0110000 DOID:0060336 3-methylglutaconic aciduria MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism MONDO:0016391 DOID:0060638 DOID:11717 neonatal diabetes mellitus MONDO:0012438 pontocerebellar hypoplasia type 5 MONDO:0020135 DOID:0060274 DOID:0060264 pontocerebellar hypoplasia MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 MONDO:0019588 DOID:0110517 DOID:0050565 hearing loss, autosomal recessive MONDO:0012443 aneurysm, intracranial berry, 4 MONDO:0016483 DOID:0080967 DOID:0060228 intracranial berry aneurysm MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 MONDO:0019588 DOID:0110511 DOID:0050565 hearing loss, autosomal recessive MONDO:0012448 hereditary spastic paraplegia 33 MONDO:0019064 DOID:0110784 DOID:2476 hereditary spastic paraplegia MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 MONDO:0019588 DOID:0110516 DOID:0050565 hearing loss, autosomal recessive MONDO:0012453 hereditary spastic paraplegia 31 MONDO:0019064 DOID:0110782 DOID:2476 hereditary spastic paraplegia MONDO:0012456 congenital primary aphakia MONDO:0001176 DOID:11367 DOID:110 lens disorder MONDO:0012456 congenital primary aphakia MONDO:0019503 DOID:0080607 DOID:0060648 anterior segment dysgenesis MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 MONDO:0019588 DOID:0110518 DOID:0050565 hearing loss, autosomal recessive MONDO:0012463 retinitis pigmentosa 35 MONDO:0019200 DOID:0110357 DOID:10584 retinitis pigmentosa MONDO:0012464 cone-rod dystrophy 10 MONDO:0015993 DOID:0111017 DOID:0050572 cone-rod dystrophy MONDO:0012467 cold-induced sweating syndrome 2 MONDO:0015526 DOID:0080330 DOID:0060294 cold-induced sweating syndrome MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 MONDO:0020300 DOID:0060685 DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0012475 cone dystrophy with supernormal rod response MONDO:0000455 DOID:0081022 DOID:0050795 cone dystrophy MONDO:0012476 hereditary spastic paraplegia 30 MONDO:0019064 DOID:0110781 DOID:2476 hereditary spastic paraplegia MONDO:0012477 retinitis pigmentosa 33 MONDO:0019200 DOID:0110366 DOID:10584 retinitis pigmentosa MONDO:0012478 orofacial cleft 9 MONDO:0000358 DOID:0080402 DOID:0050567 orofacial cleft MONDO:0012479 congenital malabsorptive diarrhea 4 MONDO:0000824 DOID:0060779 DOID:0060774 congenital diarrhea MONDO:0012483 cone-rod dystrophy 11 MONDO:0015993 DOID:0111018 DOID:0050572 cone-rod dystrophy MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 MONDO:0019588 DOID:0110519 DOID:0050565 hearing loss, autosomal recessive MONDO:0012487 alopecia-intellectual disability syndrome 2 MONDO:0008756 DOID:0080629 DOID:0080627 alopecia - intellectual disability syndrome MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type MONDO:0100510 DOID:0080576 DOID:0080027 spondyloepimetaphyseal dysplasia MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MONDO:0000426 DOID:0110715 DOID:0050736 autosomal dominant disease MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MONDO:0016293 DOID:0110715 DOID:0050534 congenital stationary night blindness MONDO:0012498 congenital stationary night blindness autosomal dominant 1 MONDO:0016293 DOID:0110862 DOID:0050534 congenital stationary night blindness MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0000429 DOID:0111160 DOID:0050739 autosomal genetic disease MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 MONDO:0015999 DOID:0070547 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0012507 retinal cone dystrophy 4 MONDO:0000455 DOID:0081023 DOID:0050795 cone dystrophy MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 MONDO:0015999 DOID:0070546 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0012510 combined oxidative phosphorylation defect type 2 MONDO:0000732 DOID:0111483 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0012511 preterm premature rupture of the membranes MONDO:0002263 DOID:0111144 DOID:229 female reproductive system disorder MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0000732 DOID:0111486 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0012513 maturity-onset diabetes of the young type 7 MONDO:0018911 DOID:0111106 DOID:0050524 maturity-onset diabetes of the young MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:0019046 DOID:0060793 DOID:0060786 leukodystrophy MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0000426 DOID:0080196 DOID:0050736 autosomal dominant disease MONDO:0012523 retinitis pigmentosa 36 MONDO:0019200 DOID:0110405 DOID:10584 retinitis pigmentosa MONDO:0012525 Leber congenital amaurosis 12 MONDO:0018998 DOID:0110080 DOID:14791 Leber congenital amaurosis MONDO:0012526 hereditary angioedema type 3 MONDO:0019623 DOID:0080940 DOID:14735 hereditary angioedema MONDO:0012529 Diamond-Blackfan anemia 3 MONDO:0015253 DOID:0111887 DOID:1339 Diamond-Blackfan anemia MONDO:0012531 xeroderma pigmentosum group B MONDO:0019600 DOID:0110850 DOID:0050427 xeroderma pigmentosum MONDO:0012534 combined oxidative phosphorylation defect type 4 MONDO:0000732 DOID:0111494 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0012539 Joubert syndrome 6 MONDO:0018772 DOID:0111001 DOID:0050777 Joubert syndrome MONDO:0012540 age related macular degeneration 4 MONDO:0005150 DOID:0110017 DOID:10871 age-related macular degeneration MONDO:0012547 Noonan syndrome 4 MONDO:0018997 DOID:0060582 DOID:3490 Noonan syndrome MONDO:0012549 autosomal recessive ataxia, Beauce type MONDO:0015244 DOID:0111618 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0000426 DOID:0080137 DOID:0050736 autosomal dominant disease MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0017169 DOID:0080137 DOID:3125 multiple endocrine neoplasia MONDO:0012553 cerebrooculofacioskeletal syndrome 2 MONDO:0008926 DOID:0080912 DOID:0080910 COFS syndrome MONDO:0012554 cerebrooculofacioskeletal syndrome 4 MONDO:0008926 DOID:0080914 DOID:0080910 COFS syndrome MONDO:0012555 Cornelia de Lange syndrome 3 MONDO:0016033 DOID:0080507 DOID:11725 Cornelia de Lange syndrome MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0005500 DOID:0080565 DOID:0050570 congenital disorder of glycosylation type I MONDO:0012561 congenital anomalies of kidney and urinary tract 1 MONDO:0019719 DOID:0080206 DOID:0080205 congenital anomaly of kidney and urinary tract MONDO:0012562 holoprosencephaly 7 MONDO:0016296 DOID:0110876 DOID:4621 holoprosencephaly MONDO:0012565 Fanconi anemia complementation group N MONDO:0019391 DOID:0111094 DOID:13636 Fanconi anemia MONDO:0012571 primary ciliary dyskinesia 6 MONDO:0016575 DOID:0110606 DOID:9562 primary ciliary dyskinesia MONDO:0012575 branchiootorenal syndrome 2 MONDO:0007029 DOID:0111424 DOID:14702 branchio-oto-renal syndrome MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0016295 DOID:0110722 DOID:14503 neuronal ceroid lipofuscinosis MONDO:0012589 Pitt-Hopkins syndrome MONDO:0002254 DOID:0060488 DOID:225 syndromic disease MONDO:0012594 complement factor I deficiency MONDO:0003832 DOID:0050419 DOID:626 complement deficiency MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 MONDO:0019588 DOID:0110482 DOID:0050565 hearing loss, autosomal recessive MONDO:0012604 isolated microphthalmia 3 MONDO:0000062 DOID:0060842 DOID:0080637 isolated microphthalmia MONDO:0012605 isolated microphthalmia 5 MONDO:0000062 DOID:0060837 DOID:0080637 isolated microphthalmia MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:0015363 DOID:0111213 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0012610 inflammatory bowel disease 10 MONDO:0005265 DOID:0110885 DOID:0050589 inflammatory bowel disease MONDO:0012612 intellectual disability, autosomal recessive 12 MONDO:0019502 DOID:0081180 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0012613 intellectual disability, autosomal recessive 5 MONDO:0019502 DOID:0081181 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0012614 intellectual disability, autosomal recessive 6 MONDO:0019502 DOID:0081182 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0012615 intellectual disability, autosomal recessive 7 MONDO:0019502 DOID:0081183 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0012617 intellectual disability, autosomal recessive 9 MONDO:0019502 DOID:0081184 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0012618 intellectual disability, autosomal recessive 10 MONDO:0019502 DOID:0081185 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0012619 intellectual disability, autosomal recessive 11 MONDO:0019502 DOID:0081186 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0012623 intellectual disability, autosomal recessive 4 MONDO:0019502 DOID:0081187 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0012625 retinitis pigmentosa 37 MONDO:0019200 DOID:0110399 DOID:10584 retinitis pigmentosa MONDO:0012626 Meckel syndrome, type 4 MONDO:0018921 DOID:0070118 DOID:0050778 Meckel syndrome MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0005501 DOID:0070260 DOID:0050571 congenital disorder of glycosylation type II MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0005501 DOID:0070259 DOID:0050571 congenital disorder of glycosylation type II MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0016073 DOID:0111812 DOID:0080636 syndromic microphthalmia MONDO:0012640 Charcot-Marie-Tooth disease type 4J MONDO:0018995 DOID:0110184 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0012644 asphyxiating thoracic dystrophy 2 MONDO:0018770 DOID:0110086 DOID:0050592 Jeune syndrome MONDO:0012651 spastic ataxia 2 MONDO:0017845 DOID:0050941 DOID:0050952 spastic ataxia MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0015152 DOID:0110284 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0012654 atrial septal defect 4 MONDO:0006664 DOID:0110109 DOID:1882 atrial septal defect MONDO:0012656 lethal congenital contracture syndrome 3 MONDO:0017436 DOID:0060653 DOID:0060558 lethal congenital contracture syndrome MONDO:0012659 age related macular degeneration 9 MONDO:0005150 DOID:0110021 DOID:10871 age-related macular degeneration MONDO:0012662 Usher syndrome type 2D MONDO:0016484 DOID:0110840 DOID:0110827 Usher syndrome type 2 MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 MONDO:0019588 DOID:0110515 DOID:0050565 hearing loss, autosomal recessive MONDO:0012671 tremor, hereditary essential, 3 MONDO:0003233 DOID:0111430 DOID:4990 essential tremor MONDO:0012674 age related macular degeneration 10 MONDO:0005150 DOID:0110022 DOID:10871 age-related macular degeneration MONDO:0012675 corticosteroid-binding globulin deficiency MONDO:0005495 DOID:0090030 DOID:9553 adrenal gland disorder MONDO:0012680 nephronophthisis 7 MONDO:0019005 DOID:0111116 DOID:12712 nephronophthisis MONDO:0012681 febrile seizures, familial, 7 MONDO:0000032 DOID:0111311 DOID:0111297 febrile seizures, familial MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:0020135 DOID:0060275 DOID:0060264 pontocerebellar hypoplasia MONDO:0012690 Noonan syndrome 5 MONDO:0018997 DOID:0060583 DOID:3490 Noonan syndrome MONDO:0012691 LEOPARD syndrome 2 MONDO:0007893 DOID:0080549 DOID:14291 Noonan syndrome with multiple lentigines MONDO:0012694 Joubert syndrome 7 MONDO:0018772 DOID:0111002 DOID:0050777 Joubert syndrome MONDO:0012695 Meckel syndrome, type 5 MONDO:0018921 DOID:0070119 DOID:0050778 Meckel syndrome MONDO:0012696 otosclerosis 4 MONDO:0005349 DOID:0060923 DOID:12185 otosclerosis MONDO:0012697 otosclerosis 7 MONDO:0005349 DOID:0060925 DOID:12185 otosclerosis MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0015152 DOID:0110296 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0012701 cataract 12 multiple types MONDO:0005129 DOID:0110239 DOID:83 cataract MONDO:0012705 familial temporal lobe epilepsy 3 MONDO:0005115 DOID:0060750 DOID:3328 temporal lobe epilepsy MONDO:0012706 familial temporal lobe epilepsy 4 MONDO:0005115 DOID:0060753 DOID:3328 temporal lobe epilepsy MONDO:0012707 familial febrile seizures 9 MONDO:0000032 DOID:0111303 DOID:0111297 febrile seizures, familial MONDO:0012713 spondylometaphyseal dysplasia, East African type MONDO:0016763 DOID:0112302 DOID:0112295 spondylometaphyseal dysplasia MONDO:0012716 spondyloepiphyseal dysplasia, Cantu type MONDO:0016761 DOID:0112287 DOID:0112280 spondyloepiphyseal dysplasia MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia MONDO:0000732 DOID:0111473 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0020074 DOID:0111446 DOID:891 progressive myoclonus epilepsy MONDO:0012723 Leber congenital amaurosis 10 MONDO:0018998 DOID:0110291 DOID:14791 Leber congenital amaurosis MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:0018768 DOID:0090063 DOID:0090061 familial cold autoinflammatory syndrome MONDO:0012727 mucocutaneous lymph node syndrome MONDO:0002052 DOID:13378 DOID:1602 lymphadenitis MONDO:0012728 Brugada syndrome 2 MONDO:0015263 DOID:0110219 DOID:0050451 Brugada syndrome MONDO:0012729 erythrocytosis, familial, 4 MONDO:0001115 DOID:0080339 DOID:10780 familial polycythemia MONDO:0012733 autosomal recessive bestrophinopathy MONDO:0003004 DOID:0050662 DOID:4448 macular degeneration MONDO:0012742 Brugada syndrome 3 MONDO:0015263 DOID:0110220 DOID:0050451 Brugada syndrome MONDO:0012743 Brugada syndrome 4 MONDO:0015263 DOID:0110221 DOID:0050451 Brugada syndrome MONDO:0012748 primary ciliary dyskinesia 7 MONDO:0016575 DOID:0110605 DOID:9562 primary ciliary dyskinesia MONDO:0012752 aneurysm, intracranial berry, 6 MONDO:0016483 DOID:0080969 DOID:0060228 intracranial berry aneurysm MONDO:0012755 episodic ataxia type 7 MONDO:0016227 DOID:0050995 DOID:963 hereditary episodic ataxia MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 MONDO:0017990 DOID:0060676 DOID:0060674 catecholaminergic polymorphic ventricular tachycardia MONDO:0012765 lymphatic malformation 2 MONDO:0019313 DOID:0070211 DOID:0050580 lymphatic malformation MONDO:0012767 age related macular degeneration 11 MONDO:0005150 DOID:0110023 DOID:10871 age-related macular degeneration MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0005500 DOID:0080566 DOID:0050570 congenital disorder of glycosylation type I MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0018151 DOID:0070241 DOID:0050730 coenzyme Q10 deficiency MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0000426 DOID:0070353 DOID:0050736 autosomal dominant disease MONDO:0012789 dystonia 16 MONDO:0000478 DOID:0090048 DOID:0050837 multifocal dystonia MONDO:0012794 ANE syndrome MONDO:0002254 DOID:0112244 DOID:225 syndromic disease MONDO:0012796 retinitis pigmentosa 41 MONDO:0019200 DOID:0110376 DOID:10584 retinitis pigmentosa MONDO:0012797 otosclerosis 8 MONDO:0005349 DOID:0060926 DOID:12185 otosclerosis MONDO:0012799 hypertrophic cardiomyopathy 11 MONDO:0024573 DOID:0110317 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0012804 hypertrophic cardiomyopathy 12 MONDO:0024573 DOID:0110318 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0000188 DOID:0090045 DOID:0070560 GLUT1 deficiency syndrome MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0010293 DOID:0081079 DOID:0081077 ectodermal dysplasia and immune deficiency MONDO:0012810 aneurysm, intracranial berry, 7 MONDO:0016483 DOID:0080970 DOID:0060228 intracranial berry aneurysm MONDO:0012811 aneurysm, intracranial berry, 8 MONDO:0016483 DOID:0080971 DOID:0060228 intracranial berry aneurysm MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0100062 DOID:0080436 DOID:0112202 developmental and epileptic encephalopathy MONDO:0012813 retinitis pigmentosa 29 MONDO:0019200 DOID:0110378 DOID:10584 retinitis pigmentosa MONDO:0012817 Ewing sarcoma MONDO:0005089 DOID:3369 DOID:1115 sarcoma MONDO:0012818 maturity-onset diabetes of the young type 9 MONDO:0018911 DOID:0111107 DOID:0050524 maturity-onset diabetes of the young MONDO:0012829 inflammatory bowel disease 12 MONDO:0005265 DOID:0110887 DOID:0050589 inflammatory bowel disease MONDO:0012831 inflammatory bowel disease 13 MONDO:0005265 DOID:0110893 DOID:0050589 inflammatory bowel disease MONDO:0012832 inflammatory bowel disease 14 MONDO:0005265 DOID:0110895 DOID:0050589 inflammatory bowel disease MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0000426 DOID:0111161 DOID:0050736 autosomal dominant disease MONDO:0012837 inflammatory bowel disease 15 MONDO:0005265 DOID:0110897 DOID:0050589 inflammatory bowel disease MONDO:0012838 inflammatory bowel disease 16 MONDO:0005265 DOID:0110896 DOID:0050589 inflammatory bowel disease MONDO:0012840 inflammatory bowel disease 17 MONDO:0005265 DOID:0110883 DOID:0050589 inflammatory bowel disease MONDO:0012841 inflammatory bowel disease 18 MONDO:0005265 DOID:0110888 DOID:0050589 inflammatory bowel disease MONDO:0012844 primary ciliary dyskinesia 8 MONDO:0016575 DOID:0110616 DOID:9562 primary ciliary dyskinesia MONDO:0012845 inflammatory bowel disease 19 MONDO:0005265 DOID:0110890 DOID:0050589 inflammatory bowel disease MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 MONDO:0018214 DOID:0111300 DOID:0060170 generalized epilepsy with febrile seizures plus MONDO:0012848 Meckel syndrome, type 6 MONDO:0018921 DOID:0070120 DOID:0050778 Meckel syndrome MONDO:0012849 Joubert syndrome 9 MONDO:0018772 DOID:0111004 DOID:0050777 Joubert syndrome MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 MONDO:0000079 DOID:0080077 DOID:0080655 nephrolithiasis/osteoporosis, hypophosphatemic MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 MONDO:0000079 DOID:0080078 DOID:0080655 nephrolithiasis/osteoporosis, hypophosphatemic MONDO:0012852 inflammatory bowel disease 20 MONDO:0005265 DOID:0110898 DOID:0050589 inflammatory bowel disease MONDO:0012855 Joubert syndrome 8 MONDO:0018772 DOID:0111003 DOID:0050777 Joubert syndrome MONDO:0012856 Birk-Barel syndrome MONDO:0000426 DOID:0050675 DOID:0050736 autosomal dominant disease MONDO:0012860 thrombophilia due to protein C deficiency, autosomal recessive MONDO:0019145 DOID:0111904 DOID:3756 hereditary thrombophilia due to congenital protein C deficiency MONDO:0012866 hereditary spastic paraplegia 35 MONDO:0019064 DOID:0110786 DOID:2476 hereditary spastic paraplegia MONDO:0012868 thrombophilia due to protein S deficiency, autosomal dominant MONDO:0000426 DOID:0111900 DOID:0050736 autosomal dominant disease MONDO:0012869 intellectual disability, autosomal dominant 22 MONDO:0015802 DOID:0070052 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0012875 inflammatory bowel disease 21 MONDO:0005265 DOID:0110906 DOID:0050589 inflammatory bowel disease MONDO:0012883 acute promyelocytic leukemia MONDO:0018874 DOID:0060318 DOID:9119 acute myeloid leukemia MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0005500 DOID:0080568 DOID:0050570 congenital disorder of glycosylation type I MONDO:0012886 inflammatory bowel disease 22 MONDO:0005265 DOID:0110905 DOID:0050589 inflammatory bowel disease MONDO:0012887 inflammatory bowel disease 23 MONDO:0005265 DOID:0110884 DOID:0050589 inflammatory bowel disease MONDO:0012890 pontocerebellar hypoplasia type 2B MONDO:0016759 DOID:0060268 DOID:0112328 pontocerebellar hypoplasia type 2 MONDO:0012891 pontocerebellar hypoplasia type 2C MONDO:0016759 DOID:0060269 DOID:0112328 pontocerebellar hypoplasia type 2 MONDO:0012897 congenital factor XI deficiency MONDO:0000429 DOID:2229 DOID:0050739 autosomal genetic disease MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 MONDO:0019587 DOID:0110556 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 MONDO:0019588 DOID:0110502 DOID:0050565 hearing loss, autosomal recessive MONDO:0012905 hypomyelinating leukodystrophy 6 MONDO:0019046 DOID:0060798 DOID:0060786 leukodystrophy MONDO:0012906 primary ciliary dyskinesia 9 MONDO:0016575 DOID:0110622 DOID:9562 primary ciliary dyskinesia MONDO:0012912 pseudopseudohypoparathyroidism MONDO:0019992 DOID:4183 DOID:4184 pseudohypoparathyroidism MONDO:0012918 primary ciliary dyskinesia 10 MONDO:0016575 DOID:0110612 DOID:9562 primary ciliary dyskinesia MONDO:0012923 congenital generalized lipodystrophy type 3 MONDO:0006536 DOID:0111137 DOID:0050585 congenital generalized lipodystrophy MONDO:0012924 Diamond-Blackfan anemia 4 MONDO:0015253 DOID:0111890 DOID:1339 Diamond-Blackfan anemia MONDO:0012925 Diamond-Blackfan anemia 5 MONDO:0015253 DOID:0111883 DOID:1339 Diamond-Blackfan anemia MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:0016296 DOID:0060412 DOID:4621 holoprosencephaly MONDO:0012929 Compton-North congenital myopathy MONDO:0019952 DOID:0080101 DOID:0081337 congenital myopathy MONDO:0012937 Diamond-Blackfan anemia 6 MONDO:0015253 DOID:0111879 DOID:1339 Diamond-Blackfan anemia MONDO:0012938 Diamond-Blackfan anemia 7 MONDO:0015253 DOID:0111878 DOID:1339 Diamond-Blackfan anemia MONDO:0012939 Diamond-Blackfan anemia 8 MONDO:0015253 DOID:0111881 DOID:1339 Diamond-Blackfan anemia MONDO:0012940 inflammatory bowel disease 24 MONDO:0005265 DOID:0110908 DOID:0050589 inflammatory bowel disease MONDO:0012943 retinitis pigmentosa 46 MONDO:0019200 DOID:0110409 DOID:10584 retinitis pigmentosa MONDO:0012949 aneurysm, intracranial berry, 9 MONDO:0016483 DOID:0080972 DOID:0060228 intracranial berry aneurysm MONDO:0012950 aneurysm, intracranial berry, 10 MONDO:0016483 DOID:0080973 DOID:0060228 intracranial berry aneurysm MONDO:0012965 seizures, benign familial infantile, 4 MONDO:0017615 DOID:0081117 DOID:0060169 benign familial infantile epilepsy MONDO:0012968 Usher syndrome type 1H MONDO:0010168 DOID:0110835 DOID:0110826 Usher syndrome type 1 MONDO:0012972 febrile seizures, familial, 10 MONDO:0000032 DOID:0111304 DOID:0111297 febrile seizures, familial MONDO:0012973 inflammatory bowel disease 26 MONDO:0005265 DOID:0110901 DOID:0050589 inflammatory bowel disease MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 MONDO:0019587 DOID:0110583 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B MONDO:0019587 DOID:0110565 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B MONDO:0019587 DOID:0110559 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B MONDO:0019588 DOID:0110476 DOID:0050565 hearing loss, autosomal recessive MONDO:0012978 primary ciliary dyskinesia 11 MONDO:0016575 DOID:0110602 DOID:9562 primary ciliary dyskinesia MONDO:0012979 primary ciliary dyskinesia 12 MONDO:0016575 DOID:0110601 DOID:9562 primary ciliary dyskinesia MONDO:0012981 hereditary spherocytosis type 4 MONDO:0019350 DOID:0110919 DOID:12971 hereditary spherocytosis MONDO:0012982 episodic ataxia type 6 MONDO:0016227 DOID:0050994 DOID:963 hereditary episodic ataxia MONDO:0012983 cone-rod dystrophy 12 MONDO:0015993 DOID:0111019 DOID:0050572 cone-rod dystrophy MONDO:0012984 PHARC syndrome MONDO:0006025 DOID:0080181 DOID:0050737 autosomal recessive disease MONDO:0012985 hereditary spherocytosis type 5 MONDO:0019350 DOID:0110920 DOID:12971 hereditary spherocytosis MONDO:0012989 microcephaly 7, primary, autosomal recessive MONDO:0016660 DOID:0070278 DOID:0070296 autosomal recessive primary microcephaly MONDO:0012990 Leber congenital amaurosis 13 MONDO:0018998 DOID:0110330 DOID:14791 Leber congenital amaurosis MONDO:0012991 Kahrizi syndrome MONDO:0006025 DOID:0050807 DOID:0050737 autosomal recessive disease MONDO:0012996 AGAT deficiency MONDO:0000456 DOID:0050712 DOID:0050798 cerebral creatine deficiency syndrome MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:0000456 DOID:0050799 DOID:0050798 cerebral creatine deficiency syndrome MONDO:0013002 cone-rod dystrophy 9 MONDO:0015993 DOID:0111020 DOID:0050572 cone-rod dystrophy MONDO:0013006 isolated growth hormone deficiency type IB MONDO:0000050 DOID:0060874 DOID:0060870 isolated congenital growth hormone deficiency MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 MONDO:0019588 DOID:0110522 DOID:0050565 hearing loss, autosomal recessive MONDO:0013011 atrial septal defect 5 MONDO:0006664 DOID:0110110 DOID:1882 atrial septal defect MONDO:0013012 inflammatory bowel disease 27 MONDO:0005265 DOID:0110902 DOID:0050589 inflammatory bowel disease MONDO:0013015 Brugada syndrome 5 MONDO:0015263 DOID:0110222 DOID:0050451 Brugada syndrome MONDO:0013016 leukocyte adhesion deficiency 3 MONDO:0017570 DOID:0110912 DOID:6612 leukocyte adhesion deficiency MONDO:0013018 keratosis follicularis spinulosa decalvans, autosomal dominant MONDO:0000136 DOID:0080755 DOID:0080753 keratosis follicularis spinulosa decalvans MONDO:0013023 orofacial cleft 12 MONDO:0000358 DOID:0080405 DOID:0050567 orofacial cleft MONDO:0013026 subepithelial mucinous corneal dystrophy MONDO:0000763 DOID:0060454 DOID:0060440 epithelial and subepithelial corneal dystrophy MONDO:0013027 posterior amorphous corneal dystrophy MONDO:0020213 DOID:0060452 DOID:0060442 stromal corneal dystrophy MONDO:0013029 cerebellar ataxia type 9 MONDO:0020380 DOID:0111747 DOID:1441 autosomal dominant cerebellar ataxia MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 MONDO:0016215 DOID:0081360 DOID:10970 spastic quadriplegic cerebral palsy MONDO:0013034 keratosis palmoplantaris striata 2 MONDO:0018865 DOID:0081109 DOID:0081105 striate palmoplantar keratoderma MONDO:0013035 orofaciodigital syndrome XI MONDO:0015375 DOID:0060381 DOID:4501 orofaciodigital syndrome MONDO:0013038 CLOVES syndrome MONDO:0002254 DOID:0080351 DOID:225 syndromic disease MONDO:0013048 hereditary spastic paraplegia 50 MONDO:0019064 DOID:0110802 DOID:2476 hereditary spastic paraplegia MONDO:0013052 retinitis pigmentosa 42 MONDO:0019200 DOID:0110386 DOID:10584 retinitis pigmentosa MONDO:0013058 cystic leukoencephalopathy without megalencephaly MONDO:0019046 DOID:0081007 DOID:10579 leukodystrophy MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0008199 DOID:0060900 DOID:0060892 late-onset Parkinson disease MONDO:0013061 myofibrillar myopathy 6 MONDO:0018943 DOID:0080097 DOID:0080307 myofibrillar myopathy MONDO:0013064 multiple synostoses syndrome 3 MONDO:0017923 DOID:0081319 DOID:0050794 multiple synostoses syndrome MONDO:0013066 46,XY sex reversal 3 MONDO:0010765 DOID:0111772 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0013067 cataract 34 multiple types MONDO:0005129 DOID:0110230 DOID:83 cataract MONDO:0013070 spermatogenic failure 7 MONDO:0004983 DOID:0070173 DOID:0111910 spermatogenic failure MONDO:0013079 primary biliary cholangitis 2 MONDO:0005388 DOID:0070359 DOID:12236 primary biliary cholangitis MONDO:0013080 primary biliary cholangitis 3 MONDO:0005388 DOID:0070360 DOID:12236 primary biliary cholangitis MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0016537 DOID:0060707 DOID:0060704 lymphoproliferative syndrome MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0005528 DOID:0050719 DOID:0050718 inborn vitamin metabolic disorder MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 MONDO:0019587 DOID:0110576 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 MONDO:0019588 DOID:0110525 DOID:0050565 hearing loss, autosomal recessive MONDO:0013120 46,XY sex reversal 5 MONDO:0010765 DOID:0111776 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0013123 atrial septal defect 6 MONDO:0006664 DOID:0110111 DOID:1882 atrial septal defect MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0018770 DOID:0110087 DOID:0050592 Jeune syndrome MONDO:0013130 isolated microphthalmia 4 MONDO:0000062 DOID:0060836 DOID:0080637 isolated microphthalmia MONDO:0013131 polycystic kidney disease 2 MONDO:0004691 DOID:0110859 DOID:898 autosomal dominant polycystic kidney disease MONDO:0013139 neutropenia, severe congenital, 2, autosomal dominant MONDO:0008742 DOID:0112131 DOID:0112130 autosomal dominant severe congenital neutropenia MONDO:0013142 neuropathy, hereditary sensory and autonomic, type 2B MONDO:0019941 DOID:0070150 DOID:0070161 hereditary sensory and autonomic neuropathy type 2 MONDO:0013145 Brugada syndrome 6 MONDO:0015263 DOID:0110223 DOID:0050451 Brugada syndrome MONDO:0013146 Brugada syndrome 7 MONDO:0015263 DOID:0110224 DOID:0050451 Brugada syndrome MONDO:0013148 Brugada syndrome 8 MONDO:0015263 DOID:0110225 DOID:0050451 Brugada syndrome MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 MONDO:0000172 DOID:0112378 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 MONDO:0000172 DOID:0112379 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 MONDO:0000172 DOID:0050588 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 MONDO:0000172 DOID:0112380 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0015152 DOID:0110292 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0015152 DOID:0110298 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0013163 nephronophthisis-like nephropathy 1 MONDO:0019005 DOID:0111117 DOID:12712 nephronophthisis MONDO:0013166 GABA aminotransaminase deficiency MONDO:0000698 DOID:0060174 DOID:0060176 gamma-amino butyric acid metabolism disorder MONDO:0013173 intellectual disability, autosomal recessive 13 MONDO:0019502 DOID:0081098 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013174 primary ciliary dyskinesia 13 MONDO:0016575 DOID:0110618 DOID:9562 primary ciliary dyskinesia MONDO:0013175 retinitis pigmentosa 50 MONDO:0019200 DOID:0110396 DOID:10584 retinitis pigmentosa MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency MONDO:0019950 DOID:0110639 DOID:0050557 congenital muscular dystrophy MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:0019950 DOID:0110640 DOID:0050557 congenital muscular dystrophy MONDO:0013183 congenital stationary night blindness 1C MONDO:0016293 DOID:0110867 DOID:0050534 congenital stationary night blindness MONDO:0013186 Noonan syndrome 6 MONDO:0018997 DOID:0060584 DOID:3490 Noonan syndrome MONDO:0013189 trichotillomania MONDO:0001162 DOID:0050587 DOID:10937 impulse control disorder MONDO:0013195 hypertrophic cardiomyopathy 13 MONDO:0024573 DOID:0110319 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013197 hypertrophic cardiomyopathy 14 MONDO:0024573 DOID:0110320 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013199 tuberous sclerosis 2 MONDO:0001734 DOID:0080325 DOID:13515 tuberous sclerosis MONDO:0013200 hypertrophic cardiomyopathy 15 MONDO:0024573 DOID:0110321 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0000214 DOID:0080536 DOID:0080535 hypermanganesemia with dystonia MONDO:0013209 metabolic dysfunction-associated steatotic liver disease MONDO:0004790 DOID:0080208 DOID:9452 fatty liver disease MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 MONDO:0019588 DOID:0110483 DOID:0050565 hearing loss, autosomal recessive MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N MONDO:0018993 DOID:0110177 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 MONDO:0019588 DOID:0110526 DOID:0050565 hearing loss, autosomal recessive MONDO:0013216 Diamond-Blackfan anemia 9 MONDO:0015253 DOID:0111884 DOID:1339 Diamond-Blackfan anemia MONDO:0013217 Diamond-Blackfan anemia 10 MONDO:0015253 DOID:0111888 DOID:1339 Diamond-Blackfan anemia MONDO:0013220 hemochromatosis type 2B MONDO:0019257 DOID:0111032 DOID:0111034 hemochromatosis type 2 MONDO:0013221 Miyoshi muscular dystrophy 2 MONDO:0009685 DOID:0070200 DOID:0070198 Miyoshi myopathy MONDO:0013222 Miyoshi muscular dystrophy 3 MONDO:0009685 DOID:0070201 DOID:0070198 Miyoshi myopathy MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0016763 DOID:0112304 DOID:0112295 spondylometaphyseal dysplasia MONDO:0013225 congenital generalized lipodystrophy type 4 MONDO:0006536 DOID:0111138 DOID:0050585 congenital generalized lipodystrophy MONDO:0013230 epilepsy, hot water, 2 MONDO:0013229 DOID:0081107 DOID:0081104 hot water reflex epilepsy MONDO:0013231 Leber congenital amaurosis 14 MONDO:0018998 DOID:0110188 DOID:14791 Leber congenital amaurosis MONDO:0013240 maturity-onset diabetes of the young type 10 MONDO:0018911 DOID:0111108 DOID:0050524 maturity-onset diabetes of the young MONDO:0013242 maturity-onset diabetes of the young type 11 MONDO:0018911 DOID:0111109 DOID:0050524 maturity-onset diabetes of the young MONDO:0013248 Fanconi anemia complementation group O MONDO:0019391 DOID:0111096 DOID:13636 Fanconi anemia MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A MONDO:0019588 DOID:0110529 DOID:0050565 hearing loss, autosomal recessive MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 MONDO:0019588 DOID:0110531 DOID:0050565 hearing loss, autosomal recessive MONDO:0013254 microcephaly, seizures, and developmental delay MONDO:0100062 DOID:0080457 DOID:0112202 developmental and epileptic encephalopathy MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:0017123 DOID:0111354 DOID:0050763 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0013263 retinitis pigmentosa 54 MONDO:0019200 DOID:0110364 DOID:10584 retinitis pigmentosa MONDO:0013266 intellectual disability, autosomal dominant 20 MONDO:0015802 DOID:0070050 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0016643 DOID:0081046 DOID:0081044 frontonasal dysplasia MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 MONDO:0019588 DOID:0110536 DOID:0050565 hearing loss, autosomal recessive MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0016643 DOID:0081047 DOID:0081044 frontonasal dysplasia MONDO:0013274 retinitis pigmentosa 51 MONDO:0019200 DOID:0110398 DOID:10584 retinitis pigmentosa MONDO:0013277 developmental and epileptic encephalopathy, 5 MONDO:0100062 DOID:0080438 DOID:0112202 developmental and epileptic encephalopathy MONDO:0013278 lymphatic malformation 3 MONDO:0019313 DOID:0070208 DOID:0050580 lymphatic malformation MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0005501 DOID:0070262 DOID:0050571 congenital disorder of glycosylation type II MONDO:0013282 alpha 1-antitrypsin deficiency MONDO:0002273 DOID:13372 DOID:2345 plasma protein metabolism disease MONDO:0013283 immunodeficiency, common variable, 3 MONDO:0015517 DOID:0081146 DOID:12177 common variable immunodeficiency MONDO:0013284 immunodeficiency, common variable, 4 MONDO:0015517 DOID:0081147 DOID:12177 common variable immunodeficiency MONDO:0013285 immunodeficiency, common variable, 5 MONDO:0015517 DOID:0081148 DOID:12177 common variable immunodeficiency MONDO:0013286 immunodeficiency, common variable, 6 MONDO:0015517 DOID:0081149 DOID:12177 common variable immunodeficiency MONDO:0013293 isolated microphthalmia 6 MONDO:0000062 DOID:0060835 DOID:0080637 isolated microphthalmia MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement MONDO:0015688 DOID:0080167 DOID:0080164 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H MONDO:0015151 DOID:0110303 DOID:0110273 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0013302 nephronophthisis 11 MONDO:0019005 DOID:0111118 DOID:12712 nephronophthisis MONDO:0013304 von Willebrand disease 2 MONDO:0019565 DOID:0060574 DOID:12531 hereditary von Willebrand disease MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 MONDO:0019587 DOID:0110577 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0013306 combined oxidative phosphorylation defect type 7 MONDO:0000732 DOID:0111487 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 MONDO:0000863 DOID:0111186 DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0013312 retinitis pigmentosa 55 MONDO:0019200 DOID:0110370 DOID:10584 retinitis pigmentosa MONDO:0013314 retinitis pigmentosa 56 MONDO:0019200 DOID:0110371 DOID:10584 retinitis pigmentosa MONDO:0013315 retinitis pigmentosa 57 MONDO:0019200 DOID:0110407 DOID:10584 retinitis pigmentosa MONDO:0013316 occult macular dystrophy MONDO:0003004 DOID:0050578 DOID:4448 macular degeneration MONDO:0013322 epilepsy, familial adult myoclonic, 3 MONDO:0000160 DOID:0111695 DOID:0111689 epilepsy, familial adult myoclonic MONDO:0013323 cranioectodermal dysplasia 2 MONDO:0009032 DOID:0080804 DOID:0050577 cranioectodermal dysplasia MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0005501 DOID:0070261 DOID:0050571 congenital disorder of glycosylation type II MONDO:0013327 primary hyperoxaluria type 3 MONDO:0002474 DOID:0111672 DOID:2977 primary hyperoxaluria MONDO:0013328 retinitis pigmentosa 58 MONDO:0019200 DOID:0110362 DOID:10584 retinitis pigmentosa MONDO:0013337 neuropathy, hereditary sensory and autonomic, type 1C MONDO:0018213 DOID:0070157 DOID:0070162 hereditary sensory and autonomic neuropathy type 1 MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect MONDO:0002012 DOID:0060741 DOID:14749 methylmalonic acidemia MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0019064 DOID:0110800 DOID:2476 hereditary spastic paraplegia MONDO:0013345 d-2-hydroxyglutaric aciduria 2 MONDO:0010924 DOID:0111352 DOID:0050575 D-2-hydroxyglutaric aciduria MONDO:0013348 cone-rod dystrophy 15 MONDO:0015993 DOID:0111021 DOID:0050572 cone-rod dystrophy MONDO:0013349 ALG11-congenital disorder of glycosylation MONDO:0005500 DOID:0080567 DOID:0050570 congenital disorder of glycosylation type I MONDO:0013350 mitochondrial DNA depletion syndrome 4b MONDO:0018158 DOID:0080123 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0013355 congenital dyserythropoietic anemia type 4 MONDO:0019403 DOID:0111400 DOID:1338 congenital dyserythropoietic anemia MONDO:0013358 Seckel syndrome 4 MONDO:0019342 DOID:0070010 DOID:0050569 Seckel syndrome MONDO:0013361 congenital prothrombin deficiency MONDO:0006025 DOID:2235 DOID:0050737 autosomal recessive disease MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 MONDO:0019588 DOID:0110528 DOID:0050565 hearing loss, autosomal recessive MONDO:0013369 hypertrophic cardiomyopathy 7 MONDO:0024573 DOID:0110313 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant MONDO:0001029 DOID:0080591 DOID:10426 Klippel-Feil syndrome MONDO:0013377 isolated microphthalmia 7 MONDO:0000062 DOID:0060838 DOID:0080637 isolated microphthalmia MONDO:0013379 Noonan syndrome 7 MONDO:0018997 DOID:0060585 DOID:3490 Noonan syndrome MONDO:0013380 LEOPARD syndrome 3 MONDO:0007893 DOID:0080550 DOID:14291 Noonan syndrome with multiple lentigines MONDO:0013381 neuropathy, hereditary sensory, type 1D MONDO:0018213 DOID:0070156 DOID:0070162 hereditary sensory and autonomic neuropathy type 1 MONDO:0013385 Treacher Collins syndrome 2 MONDO:0002457 DOID:0080790 DOID:2908 Treacher-Collins syndrome MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 MONDO:0019588 DOID:0110523 DOID:0050565 hearing loss, autosomal recessive MONDO:0013387 developmental and epileptic encephalopathy, 7 MONDO:0100062 DOID:0080462 DOID:0112202 developmental and epileptic encephalopathy MONDO:0013388 developmental and epileptic encephalopathy, 11 MONDO:0100062 DOID:0080421 DOID:0112202 developmental and epileptic encephalopathy MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q MONDO:0015152 DOID:0110285 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 MONDO:0015244 DOID:0050999 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0013395 retinitis pigmentosa 4 MONDO:0019200 DOID:0110372 DOID:10584 retinitis pigmentosa MONDO:0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency MONDO:0005495 DOID:0050546 DOID:9553 adrenal gland disorder MONDO:0013401 hereditary spastic paraplegia 51 MONDO:0019064 DOID:0110803 DOID:2476 hereditary spastic paraplegia MONDO:0013402 retinitis pigmentosa 27 MONDO:0019200 DOID:0110397 DOID:10584 retinitis pigmentosa MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0000351 DOID:0111039 DOID:0050544 disorder of methionine catabolism MONDO:0013405 retinitis pigmentosa 49 MONDO:0019200 DOID:0110377 DOID:10584 retinitis pigmentosa MONDO:0013406 age related macular degeneration 6 MONDO:0005150 DOID:0110018 DOID:10871 age-related macular degeneration MONDO:0013407 retinitis pigmentosa 47 MONDO:0019200 DOID:0110369 DOID:10584 retinitis pigmentosa MONDO:0013410 46,XY sex reversal 6 MONDO:0010765 DOID:0111769 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0013412 hypertrophic cardiomyopathy 9 MONDO:0024573 DOID:0110315 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013413 retinitis pigmentosa 45 MONDO:0019200 DOID:0110402 DOID:10584 retinitis pigmentosa MONDO:0013414 retinitis pigmentosa 44 MONDO:0019200 DOID:0110394 DOID:10584 retinitis pigmentosa MONDO:0013416 age related macular degeneration 8 MONDO:0005150 DOID:0110020 DOID:10871 age-related macular degeneration MONDO:0013420 age related macular degeneration 12 MONDO:0005150 DOID:0110024 DOID:10871 age-related macular degeneration MONDO:0013425 retinitis pigmentosa 20 MONDO:0019200 DOID:0110353 DOID:10584 retinitis pigmentosa MONDO:0013426 aneurysm-osteoarthritis syndrome MONDO:0018954 DOID:0070237 DOID:0050466 Loeys-Dietz syndrome MONDO:0013427 immunodeficiency 31B MONDO:0006025 DOID:0111944 DOID:0050737 autosomal recessive disease MONDO:0013428 Meier-Gorlin syndrome 2 MONDO:0016817 DOID:0080513 DOID:0060306 Meier-Gorlin syndrome MONDO:0013429 retinitis pigmentosa 40 MONDO:0019200 DOID:0110375 DOID:10584 retinitis pigmentosa MONDO:0013430 Meier-Gorlin syndrome 3 MONDO:0016817 DOID:0080514 DOID:0060306 Meier-Gorlin syndrome MONDO:0013431 Meier-Gorlin syndrome 4 MONDO:0016817 DOID:0080515 DOID:0060306 Meier-Gorlin syndrome MONDO:0013432 Meier-Gorlin syndrome 5 MONDO:0016817 DOID:0080516 DOID:0060306 Meier-Gorlin syndrome MONDO:0013433 primary sclerosing cholangitis MONDO:0018646 DOID:0060643 DOID:14268 sclerosing cholangitis MONDO:0013434 primary ciliary dyskinesia 14 MONDO:0016575 DOID:0110598 DOID:9562 primary ciliary dyskinesia MONDO:0013435 primary ciliary dyskinesia 15 MONDO:0016575 DOID:0110623 DOID:9562 primary ciliary dyskinesia MONDO:0013436 retinitis pigmentosa 39 MONDO:0019200 DOID:0110360 DOID:10584 retinitis pigmentosa MONDO:0013437 retinitis pigmentosa 43 MONDO:0019200 DOID:0110379 DOID:10584 retinitis pigmentosa MONDO:0013438 pontocerebellar hypoplasia type 2D MONDO:0016759 DOID:0060270 DOID:0112328 pontocerebellar hypoplasia type 2 MONDO:0013439 congenital bile acid synthesis defect 3 MONDO:0018841 DOID:0111070 DOID:0050674 congenital bile acid synthesis defect MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0015152 DOID:0110293 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0013441 asphyxiating thoracic dystrophy 4 MONDO:0018770 DOID:0110088 DOID:0050592 Jeune syndrome MONDO:0013442 nephronophthisis 12 MONDO:0019005 DOID:0111119 DOID:12712 nephronophthisis MONDO:0013443 Seckel syndrome 5 MONDO:0019342 DOID:0070012 DOID:0050569 Seckel syndrome MONDO:0013444 nephronophthisis 9 MONDO:0019005 DOID:0111120 DOID:12712 nephronophthisis MONDO:0013446 Leber congenital amaurosis 6 MONDO:0018998 DOID:0110329 DOID:14791 Leber congenital amaurosis MONDO:0013447 retinitis pigmentosa 48 MONDO:0019200 DOID:0110382 DOID:10584 retinitis pigmentosa MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 MONDO:0018214 DOID:0111299 DOID:0060170 generalized epilepsy with febrile seizures plus MONDO:0013449 Leber congenital amaurosis 7 MONDO:0018998 DOID:0110333 DOID:14791 Leber congenital amaurosis MONDO:0013450 congenital stationary night blindness 1D MONDO:0016293 DOID:0110868 DOID:0050534 congenital stationary night blindness MONDO:0013453 Leber congenital amaurosis 8 MONDO:0018998 DOID:0110079 DOID:14791 Leber congenital amaurosis MONDO:0013454 Leber congenital amaurosis 11 MONDO:0018998 DOID:0110216 DOID:14791 Leber congenital amaurosis MONDO:0013455 hypertrophic cardiomyopathy 16 MONDO:0024573 DOID:0110322 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013457 Leber congenital amaurosis 15 MONDO:0018998 DOID:0110189 DOID:14791 Leber congenital amaurosis MONDO:0013464 episodic ataxia type 5 MONDO:0016227 DOID:0050993 DOID:963 hereditary episodic ataxia MONDO:0013465 achromatopsia 4 MONDO:0018852 DOID:0110010 DOID:13911 achromatopsia MONDO:0013466 orofacial cleft 13 MONDO:0000358 DOID:0080406 DOID:0050567 orofacial cleft MONDO:0013468 retinitis pigmentosa 59 MONDO:0019200 DOID:0110352 DOID:10584 retinitis pigmentosa MONDO:0013469 retinitis pigmentosa 38 MONDO:0019200 DOID:0110367 DOID:10584 retinitis pigmentosa MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 MONDO:0018214 DOID:0111295 DOID:0060170 generalized epilepsy with febrile seizures plus MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 MONDO:0019588 DOID:0110513 DOID:0050565 hearing loss, autosomal recessive MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy MONDO:0018943 DOID:0080309 DOID:0080307 myofibrillar myopathy MONDO:0013474 hypertrophic cardiomyopathy 17 MONDO:0024573 DOID:0110323 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013475 hypertrophic cardiomyopathy 18 MONDO:0024573 DOID:0110324 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013477 hypertrophic cardiomyopathy 20 MONDO:0024573 DOID:0110326 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013478 PLIN1-related familial partial lipodystrophy MONDO:0020088 DOID:0070205 DOID:0050440 familial partial lipodystrophy MONDO:0013482 Meckel syndrome, type 8 MONDO:0018921 DOID:0070122 DOID:0050778 Meckel syndrome MONDO:0013484 cataract 36 MONDO:0005129 DOID:0110247 DOID:83 cataract MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 MONDO:0019588 DOID:0110534 DOID:0050565 hearing loss, autosomal recessive MONDO:0013490 megalencephalic leukoencephalopathy with subcortical cysts 2A MONDO:0011391 DOID:0080318 DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts MONDO:0013491 megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability MONDO:0011391 DOID:0080317 DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts MONDO:0013492 alopecia-intellectual disability syndrome 3 MONDO:0008756 DOID:0080951 DOID:0080627 alopecia - intellectual disability syndrome MONDO:0013495 autosomal recessive congenital ichthyosis 8 MONDO:0017265 DOID:0060717 DOID:0060655 autosomal recessive congenital ichthyosis MONDO:0013498 schizophrenia 15 MONDO:0005090 DOID:0070091 DOID:5419 schizophrenia MONDO:0013499 Fanconi anemia complementation group P MONDO:0019391 DOID:0111092 DOID:13636 Fanconi anemia MONDO:0013504 spermatogenic failure 8 MONDO:0004983 DOID:0070169 DOID:0111910 spermatogenic failure MONDO:0013505 spermatogenic failure 9 MONDO:0015746 DOID:0111156 DOID:0112312 male infertility due to globozoospermia MONDO:0013506 schizophrenia 16 MONDO:0005090 DOID:0070092 DOID:5419 schizophrenia MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 MONDO:0018305 DOID:0070194 DOID:3265 chronic granulomatous disease MONDO:0013514 hypotrichosis 3 MONDO:0003037 DOID:0110700 DOID:4535 hypotrichosis MONDO:0013516 retinitis pigmentosa 60 MONDO:0019200 DOID:0110411 DOID:10584 retinitis pigmentosa MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 MONDO:0006025 DOID:0070017 DOID:0050737 autosomal recessive disease MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 MONDO:0015780 DOID:0070017 DOID:2729 dyskeratosis congenita MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 MONDO:0006025 DOID:0070019 DOID:0050737 autosomal recessive disease MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 MONDO:0015780 DOID:0070019 DOID:2729 dyskeratosis congenita MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 MONDO:0000426 DOID:0070016 DOID:0050736 autosomal dominant disease MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 MONDO:0015780 DOID:0070016 DOID:2729 dyskeratosis congenita MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 MONDO:0000426 DOID:0070018 DOID:0050736 autosomal dominant disease MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 MONDO:0015780 DOID:0070018 DOID:2729 dyskeratosis congenita MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0006025 DOID:0081334 DOID:0050737 autosomal recessive disease MONDO:0013525 primary ciliary dyskinesia 16 MONDO:0016575 DOID:0110613 DOID:9562 primary ciliary dyskinesia MONDO:0013526 progressive myoclonic epilepsy type 6 MONDO:0020074 DOID:0111449 DOID:891 progressive myoclonus epilepsy MONDO:0013527 lissencephaly 4 MONDO:0015204 DOID:0112235 DOID:0112234 microlissencephaly MONDO:0013528 intellectual disability, autosomal recessive 14 MONDO:0019502 DOID:0081188 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 MONDO:0017990 DOID:0060677 DOID:0060674 catecholaminergic polymorphic ventricular tachycardia MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 MONDO:0019588 DOID:0110487 DOID:0050565 hearing loss, autosomal recessive MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0000904 DOID:0090137 DOID:0090131 complex cortical dysplasia with other brain malformations MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 MONDO:0014471 DOID:0060332 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0013551 hereditary spastic paraplegia 47 MONDO:0019064 DOID:0110799 DOID:2476 hereditary spastic paraplegia MONDO:0013552 hereditary spastic paraplegia 52 MONDO:0019064 DOID:0110804 DOID:2476 hereditary spastic paraplegia MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 MONDO:0000133 DOID:0090009 DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0013559 Hermansky-Pudlak syndrome 7 MONDO:0019312 DOID:0060545 DOID:3753 Hermansky-Pudlak syndrome MONDO:0013560 Hermansky-Pudlak syndrome 8 MONDO:0019312 DOID:0060546 DOID:3753 Hermansky-Pudlak syndrome MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0100247 DOID:0080138 DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0013565 Fanconi anemia complementation group G MONDO:0019391 DOID:0111086 DOID:13636 Fanconi anemia MONDO:0013566 Fanconi anemia complementation group L MONDO:0019391 DOID:0111082 DOID:13636 Fanconi anemia MONDO:0013567 atrial septal defect 3 MONDO:0006664 DOID:0110108 DOID:1882 atrial septal defect MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly MONDO:0018770 DOID:0110090 DOID:0050592 Jeune syndrome MONDO:0013570 combined oxidative phosphorylation defect type 8 MONDO:0000732 DOID:0111479 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013573 cranioectodermal dysplasia 3 MONDO:0009032 DOID:0080805 DOID:0050577 cranioectodermal dysplasia MONDO:0013582 mosaic variegated aneuploidy syndrome 2 MONDO:0000141 DOID:0080142 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0013585 hydrolethalus syndrome 2 MONDO:0006037 DOID:0111356 DOID:0050779 hydrolethalus syndrome MONDO:0013591 epiphyseal dysplasia, multiple, 6 MONDO:0015627 DOID:0070301 DOID:0070305 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 MONDO:0019587 DOID:0110585 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0013597 platelet-type bleeding disorder 14 MONDO:0000009 DOID:0111047 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0013598 myostatin-related muscle hypertrophy MONDO:0003939 DOID:0111072 DOID:66 muscle tissue disorder MONDO:0013606 Hermansky-Pudlak syndrome 9 MONDO:0019312 DOID:0060547 DOID:3753 Hermansky-Pudlak syndrome MONDO:0013608 Joubert syndrome 13 MONDO:0018772 DOID:0110982 DOID:0050777 Joubert syndrome MONDO:0013610 retinitis pigmentosa 61 MONDO:0019200 DOID:0110373 DOID:10584 retinitis pigmentosa MONDO:0013611 retinitis pigmentosa 62 MONDO:0019200 DOID:0110380 DOID:10584 retinitis pigmentosa MONDO:0013612 geleophysic dysplasia 2 MONDO:0000127 DOID:0111726 DOID:0111724 geleophysic dysplasia MONDO:0013613 Leber congenital amaurosis 16 MONDO:0018998 DOID:0110118 DOID:14791 Leber congenital amaurosis MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 MONDO:0015999 DOID:0070548 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome MONDO:0002350 DOID:0080380 DOID:2590 familial nephrotic syndrome MONDO:0013622 platelet-type bleeding disorder 9 MONDO:0000009 DOID:0111045 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0013623 platelet-type bleeding disorder 11 MONDO:0000009 DOID:0111057 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0013624 Rafiq syndrome MONDO:0019502 DOID:0081097 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013625 Parkinson disease 17 MONDO:0008199 DOID:0060897 DOID:0060892 late-onset Parkinson disease MONDO:0013626 psoriasis 14, pustular MONDO:0005083 DOID:0080474 DOID:8893 psoriasis MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 MONDO:0016596 DOID:0070435 DOID:0070431 hyperphosphatasia-intellectual disability syndrome MONDO:0013629 intellectual disability, autosomal recessive 16 MONDO:0019502 DOID:0081189 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 MONDO:0019587 DOID:0110562 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0013634 neuropathy, hereditary sensory, type 2C MONDO:0019941 DOID:0070147 DOID:0070161 hereditary sensory and autonomic neuropathy type 2 MONDO:0013636 primary biliary cholangitis 4 MONDO:0005388 DOID:0070361 DOID:12236 primary biliary cholangitis MONDO:0013637 primary biliary cholangitis 5 MONDO:0005388 DOID:0070362 DOID:12236 primary biliary cholangitis MONDO:0013638 Warburg micro syndrome 3 MONDO:0016649 DOID:0110718 DOID:0060237 Warburg micro syndrome MONDO:0013641 Warburg micro syndrome 2 MONDO:0016649 DOID:0110717 DOID:0060237 Warburg micro syndrome MONDO:0013642 holoprosencephaly 11 MONDO:0016296 DOID:0110877 DOID:4621 holoprosencephaly MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O MONDO:0018993 DOID:0110175 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0013649 hypotrichosis 9 MONDO:0003037 DOID:0110706 DOID:4535 hypotrichosis MONDO:0013650 hypotrichosis 10 MONDO:0003037 DOID:0110707 DOID:4535 hypotrichosis MONDO:0013651 intellectual disability, autosomal recessive 18 MONDO:0019502 DOID:0081190 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013654 aneurysm, intracranial berry, 11 MONDO:0016483 DOID:0080974 DOID:0060228 intracranial berry aneurysm MONDO:0013662 Barrett esophagus MONDO:0003749 DOID:9206 DOID:6050 esophageal disorder MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency MONDO:0010765 DOID:0111773 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0013674 neurodegeneration with brain iron accumulation 4 MONDO:0018307 DOID:0110738 DOID:0110734 neurodegeneration with brain iron accumulation MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 MONDO:0017338 DOID:0080134 DOID:0070330 fatal multiple mitochondrial dysfunctions syndrome MONDO:0013679 sclerosteosis 2 MONDO:0017838 DOID:0060757 DOID:0060251 sclerosteosis MONDO:0013689 ovarian dysgenesis 3 MONDO:0009299 DOID:0080495 DOID:14450 46 XX gonadal dysgenesis MONDO:0013694 intellectual disability, autosomal recessive 31 MONDO:0019502 DOID:0081191 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013697 intellectual disability, autosomal recessive 29 MONDO:0019502 DOID:0081192 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013698 arthrogryposis, distal, type 1B MONDO:0015240 DOID:0111598 DOID:0111596 digitotalar dysmorphism MONDO:0013702 intellectual disability, autosomal recessive 27 MONDO:0019502 DOID:0081193 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013703 intellectual disability, autosomal recessive 33 MONDO:0019502 DOID:0081194 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013704 intellectual disability, autosomal recessive 30 MONDO:0019502 DOID:0081195 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013706 intellectual disability, autosomal recessive 23 MONDO:0019502 DOID:0081196 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013707 intellectual disability, autosomal recessive 24 MONDO:0019502 DOID:0081197 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013708 intellectual disability, autosomal recessive 25 MONDO:0019502 DOID:0081198 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013709 intellectual disability, autosomal recessive 28 MONDO:0019502 DOID:0081199 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013717 asphyxiating thoracic dystrophy 5 MONDO:0018770 DOID:0110089 DOID:0050592 Jeune syndrome MONDO:0013718 nephronophthisis 13 MONDO:0019005 DOID:0111121 DOID:12712 nephronophthisis MONDO:0013719 cranioectodermal dysplasia 4 MONDO:0009032 DOID:0080806 DOID:0050577 cranioectodermal dysplasia MONDO:0013730 graft versus host disease MONDO:0005046 DOID:0081267 DOID:2914 immune system disorder MONDO:0013731 MEGF10-related myopathy MONDO:0019952 DOID:0111333 DOID:0081337 congenital myopathy MONDO:0013734 microphthalmia, syndromic 11 MONDO:0016073 DOID:0111804 DOID:0080636 syndromic microphthalmia MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 MONDO:0019588 DOID:0110538 DOID:0050565 hearing loss, autosomal recessive MONDO:0013741 familial temporal lobe epilepsy 5 MONDO:0005115 DOID:0060752 DOID:3328 temporal lobe epilepsy MONDO:0013745 Joubert syndrome 14 MONDO:0018772 DOID:0110983 DOID:0050777 Joubert syndrome MONDO:0013750 atrial septal defect 8 MONDO:0006664 DOID:0110113 DOID:1882 atrial septal defect MONDO:0013751 cutis laxa, autosomal dominant 2 MONDO:0019571 DOID:0070136 DOID:0070142 autosomal dominant cutis laxa MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0018993 DOID:0110169 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0013754 cutis laxa, autosomal recessive, type 1B MONDO:0019572 DOID:0070133 DOID:0070144 autosomal recessive cutis laxa type 1 MONDO:0013755 PYCR1-related de Barsy syndrome MONDO:0017569 DOID:0070138 DOID:0070143 de Barsy syndrome MONDO:0013763 Joubert syndrome 15 MONDO:0018772 DOID:0110984 DOID:0050777 Joubert syndrome MONDO:0013764 Joubert syndrome 16 MONDO:0018772 DOID:0110985 DOID:0050777 Joubert syndrome MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0018768 DOID:0090064 DOID:0090061 familial cold autoinflammatory syndrome MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 MONDO:0017979 DOID:0110117 DOID:6688 autoimmune lymphoproliferative syndrome MONDO:0013770 atrial septal defect 9 MONDO:0006664 DOID:0110114 DOID:1882 atrial septal defect MONDO:0013773 porencephaly 2 MONDO:0020496 DOID:0112314 DOID:0112313 familial porencephaly MONDO:0013780 retinitis pigmentosa 63 MONDO:0019200 DOID:0110385 DOID:10584 retinitis pigmentosa MONDO:0013785 intellectual disability, autosomal recessive 34 MONDO:0019502 DOID:0081200 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0013786 cone-rod dystrophy 16 MONDO:0015993 DOID:0111022 DOID:0050572 cone-rod dystrophy MONDO:0013788 Usher syndrome type 3B MONDO:0016485 DOID:0110842 DOID:0110828 Usher syndrome type 3 MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0005500 DOID:0080569 DOID:0050570 congenital disorder of glycosylation type I MONDO:0013795 fibrochondrogenesis 2 MONDO:0016068 DOID:0080673 DOID:0060465 fibrochondrogenesis MONDO:0013807 congenital stationary night blindness 1E MONDO:0016293 DOID:0110869 DOID:0050534 congenital stationary night blindness MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0005501 DOID:0070264 DOID:0050571 congenital disorder of glycosylation type II MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000732 DOID:0111472 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013812 Baraitser-winter syndrome 2 MONDO:0017579 DOID:0081113 DOID:0060229 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0013818 trichohepatoenteric syndrome 2 MONDO:0009105 DOID:0111416 DOID:0111414 trichohepatoenteric syndrome MONDO:0013819 intellectual disability, autosomal dominant 14 MONDO:0015452 DOID:0070044 DOID:1925 Coffin-Siris syndrome MONDO:0013820 intellectual disability, autosomal dominant 15 MONDO:0015452 DOID:0070045 DOID:1925 Coffin-Siris syndrome MONDO:0013821 intellectual disability, autosomal dominant 16 MONDO:0015452 DOID:0070046 DOID:1925 Coffin-Siris syndrome MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B MONDO:0019587 DOID:0110574 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0013824 Joubert syndrome 17 MONDO:0018772 DOID:0110986 DOID:0050777 Joubert syndrome MONDO:0013825 congenital diarrhea 6 MONDO:0000824 DOID:0060780 DOID:0060774 congenital diarrhea MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 MONDO:0019588 DOID:0110532 DOID:0050565 hearing loss, autosomal recessive MONDO:0013827 hyperekplexia 3 MONDO:0021022 DOID:0060698 DOID:0060695 hereditary hyperekplexia MONDO:0013828 hyperekplexia 2 MONDO:0021022 DOID:0060697 DOID:0060695 hereditary hyperekplexia MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0018151 DOID:0070243 DOID:0050730 coenzyme Q10 deficiency MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:0018151 DOID:0070239 DOID:0050730 coenzyme Q10 deficiency MONDO:0013838 coenzyme Q10 deficiency, primary, 3 MONDO:0018151 DOID:0070240 DOID:0050730 coenzyme Q10 deficiency MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 MONDO:0015364 DOID:0070151 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0018151 DOID:0070242 DOID:0050730 coenzyme Q10 deficiency MONDO:0013842 cortisone reductase deficiency 2 MONDO:0000193 DOID:0090140 DOID:0090139 cortisone reductase deficiency MONDO:0013849 microcephaly 8, primary, autosomal recessive MONDO:0016660 DOID:0070282 DOID:0070296 autosomal recessive primary microcephaly MONDO:0013852 hypertrophic cardiomyopathy 21 MONDO:0024573 DOID:0110311 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0013853 pontocerebellar hypoplasia type 1B MONDO:0016396 DOID:0060266 DOID:0112322 pontocerebellar hypoplasia type 1 MONDO:0013854 primary ciliary dyskinesia 17 MONDO:0016575 DOID:0110621 DOID:9562 primary ciliary dyskinesia MONDO:0013862 immunodeficiency, common variable, 7 MONDO:0015517 DOID:0081150 DOID:12177 common variable immunodeficiency MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0015517 DOID:0081151 DOID:12177 common variable immunodeficiency MONDO:0013864 Cornelia de Lange syndrome 4 MONDO:0016033 DOID:0080508 DOID:11725 Cornelia de Lange syndrome MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:0000732 DOID:0111480 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 MONDO:0008891 DOID:0080786 DOID:0050694 riboflavin transporter deficiency MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0005501 DOID:0070263 DOID:0050571 congenital disorder of glycosylation type II MONDO:0013871 Seckel syndrome 6 MONDO:0019342 DOID:0070006 DOID:0050569 Seckel syndrome MONDO:0013873 IMAGe syndrome MONDO:0002254 DOID:0050885 DOID:225 syndromic disease MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017359 DOID:0110001 DOID:0060336 3-methylglutaconic aciduria MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0004069 DOID:0080363 DOID:700 inborn mitochondrial metabolism disorder MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0006025 DOID:0080363 DOID:0050737 autosomal recessive disease MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 MONDO:0016596 DOID:0070434 DOID:0070431 hyperphosphatasia-intellectual disability syndrome MONDO:0013888 tremor, hereditary essential, 4 MONDO:0003233 DOID:0111431 DOID:4990 essential tremor MONDO:0013896 Joubert syndrome 18 MONDO:0018772 DOID:0110987 DOID:0050777 Joubert syndrome MONDO:0013897 Loeys-Dietz syndrome 4 MONDO:0018954 DOID:0070233 DOID:0050466 Loeys-Dietz syndrome MONDO:0013898 karyomegalic interstitial nephritis MONDO:0001085 DOID:0060911 DOID:1063 interstitial nephritis MONDO:0013901 spermatogenic failure 10 MONDO:0004983 DOID:0070178 DOID:0111910 spermatogenic failure MONDO:0013902 aortic valve disease 2 MONDO:0007194 DOID:0080334 DOID:0080332 familial bicuspid aortic valve MONDO:0013903 nystagmus 7, congenital, autosomal dominant MONDO:0005712 DOID:0111791 DOID:9649 congenital nystagmus MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia MONDO:0018555 DOID:0090089 DOID:0090070 hypogonadotropic hypogonadism MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia MONDO:0018555 DOID:0090072 DOID:0090070 hypogonadotropic hypogonadism MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia MONDO:0018555 DOID:0090073 DOID:0090070 hypogonadotropic hypogonadism MONDO:0013916 nephronophthisis 14 MONDO:0019005 DOID:0111122 DOID:12712 nephronophthisis MONDO:0013917 nephronophthisis 15 MONDO:0019005 DOID:0111123 DOID:12712 nephronophthisis MONDO:0013922 Seckel syndrome 7 MONDO:0019342 DOID:0070011 DOID:0050569 Seckel syndrome MONDO:0013923 microcephaly 9, primary, autosomal recessive MONDO:0016660 DOID:0070292 DOID:0070296 autosomal recessive primary microcephaly MONDO:0013924 osteogenesis imperfecta type 13 MONDO:0019019 DOID:0110342 DOID:12347 osteogenesis imperfecta MONDO:0013928 dystonia 23 MONDO:0000477 DOID:0090051 DOID:0050836 focal dystonia MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 MONDO:0019588 DOID:0110540 DOID:0050565 hearing loss, autosomal recessive MONDO:0013935 Usher syndrome type 1J MONDO:0010168 DOID:0110836 DOID:0110826 Usher syndrome type 1 MONDO:0013940 primary ciliary dyskinesia 18 MONDO:0016575 DOID:0110604 DOID:9562 primary ciliary dyskinesia MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 MONDO:0015363 DOID:0111214 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0013953 immunodeficiency 28 MONDO:0003778 DOID:0111995 DOID:612 inborn error of immunity MONDO:0013959 Charcot-Marie-Tooth disease type 4F MONDO:0018995 DOID:0110193 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 MONDO:0019588 DOID:0110537 DOID:0050565 hearing loss, autosomal recessive MONDO:0013964 Diamond-Blackfan anemia 11 MONDO:0015253 DOID:0111892 DOID:1339 Diamond-Blackfan anemia MONDO:0013965 lethal congenital contracture syndrome 4 MONDO:0017436 DOID:0060654 DOID:0060558 lethal congenital contracture syndrome MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 MONDO:0017990 DOID:0060678 DOID:0060674 catecholaminergic polymorphic ventricular tachycardia MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0005500 DOID:0080570 DOID:0050570 congenital disorder of glycosylation type I MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO:0000732 DOID:0111481 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency MONDO:0006025 DOID:0090126 DOID:0050737 autosomal recessive disease MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0000732 DOID:0111493 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013974 ectodermal dysplasia 6, hair/nail type MONDO:0019071 DOID:0111659 DOID:0111655 pure hair and nail ectodermal dysplasia MONDO:0013975 ectodermal dysplasia 7, hair/nail type MONDO:0019071 DOID:0111660 DOID:0111655 pure hair and nail ectodermal dysplasia MONDO:0013976 ectodermal dysplasia 9, hair/nail type MONDO:0019071 DOID:0111656 DOID:0111655 pure hair and nail ectodermal dysplasia MONDO:0013977 combined oxidative phosphorylation defect type 13 MONDO:0000732 DOID:0111467 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 MONDO:0019588 DOID:0110521 DOID:0050565 hearing loss, autosomal recessive MONDO:0013979 primary ciliary dyskinesia 19 MONDO:0016575 DOID:0110608 DOID:9562 primary ciliary dyskinesia MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B MONDO:0019588 DOID:0110530 DOID:0050565 hearing loss, autosomal recessive MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B MONDO:0019588 DOID:0110474 DOID:0050565 hearing loss, autosomal recessive MONDO:0013986 combined oxidative phosphorylation defect type 14 MONDO:0000732 DOID:0111477 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013987 combined oxidative phosphorylation defect type 15 MONDO:0000732 DOID:0111491 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0013989 developmental and epileptic encephalopathy, 14 MONDO:0100062 DOID:0080439 DOID:0112202 developmental and epileptic encephalopathy MONDO:0013990 pontocerebellar hypoplasia type 8 MONDO:0020135 DOID:0060277 DOID:0060264 pontocerebellar hypoplasia MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:0020135 DOID:0060276 DOID:0060264 pontocerebellar hypoplasia MONDO:0013994 Joubert syndrome 20 MONDO:0018772 DOID:0110989 DOID:0050777 Joubert syndrome MONDO:0013995 cholestasis, intrahepatic, of pregnancy, 3 MONDO:0100429 DOID:0070229 DOID:0070227 intrahepatic cholestasis of pregnancy MONDO:0014001 Usher syndrome type 1K MONDO:0010168 DOID:0110837 DOID:0110826 Usher syndrome type 1 MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 MONDO:0020300 DOID:0060686 DOID:0060681 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0014003 developmental and epileptic encephalopathy, 15 MONDO:0100062 DOID:0080414 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0002350 DOID:0080388 DOID:2590 familial nephrotic syndrome MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q MONDO:0018993 DOID:0110170 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0019064 DOID:0110808 DOID:2476 hereditary spastic paraplegia MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement MONDO:0018319 DOID:0111729 DOID:0111728 familial episodic pain syndrome MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0005500 DOID:0080571 DOID:0050570 congenital disorder of glycosylation type I MONDO:0014026 congenital stationary night blindness 1F MONDO:0016293 DOID:0110864 DOID:0050534 congenital stationary night blindness MONDO:0014027 hypotrichosis 11 MONDO:0003037 DOID:0110708 DOID:4535 hypotrichosis MONDO:0014028 distal arthrogryposis type 5D MONDO:0019942 DOID:0111594 DOID:0050646 distal arthrogryposis MONDO:0014030 primary ciliary dyskinesia 20 MONDO:0016575 DOID:0110625 DOID:9562 primary ciliary dyskinesia MONDO:0014033 dystonia 25 MONDO:0000478 DOID:0090055 DOID:0050837 multifocal dystonia MONDO:0014036 Alzheimer disease 17 MONDO:0004975 DOID:0110049 DOID:10652 Alzheimer disease MONDO:0014037 spermatogenic failure 11 MONDO:0004983 DOID:0070180 DOID:0111910 spermatogenic failure MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0018158 DOID:0080129 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:0016660 DOID:0070294 DOID:0070296 autosomal recessive primary microcephaly MONDO:0014046 Cowden syndrome 4 MONDO:0016063 DOID:0081000 DOID:6457 Cowden disease MONDO:0014047 Cowden syndrome 5 MONDO:0016063 DOID:0081001 DOID:6457 Cowden disease MONDO:0014048 Cowden syndrome 6 MONDO:0016063 DOID:0081002 DOID:6457 Cowden disease MONDO:0014050 isolated microphthalmia 8 MONDO:0000062 DOID:0060841 DOID:0080637 isolated microphthalmia MONDO:0014051 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 MONDO:0015487 DOID:0080358 DOID:0050713 fatal infantile encephalocardiomyopathy MONDO:0014054 lymphoproliferative syndrome 2 MONDO:0016537 DOID:0060708 DOID:0060704 lymphoproliferative syndrome MONDO:0014055 epilepsy, familial adult myoclonic, 4 MONDO:0000160 DOID:0111693 DOID:0111689 epilepsy, familial adult myoclonic MONDO:0014068 cone-rod dystrophy 17 MONDO:0015993 DOID:0111023 DOID:0050572 cone-rod dystrophy MONDO:0014070 oculocutaneous albinism type 7 MONDO:0018910 DOID:0070100 DOID:0050632 oculocutaneous albinism MONDO:0014072 D,L-2-hydroxyglutaric aciduria MONDO:0016001 DOID:0111619 DOID:0050573 2-hydroxyglutaric aciduria MONDO:0014076 dyskeratosis congenita, autosomal recessive 5 MONDO:0006025 DOID:0070022 DOID:0050737 autosomal recessive disease MONDO:0014078 platelet-type bleeding disorder 15 MONDO:0000009 DOID:0111053 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0014084 ataxia with oculomotor apraxia type 3 MONDO:0015244 DOID:0060557 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0014087 Smith-McCort dysplasia 2 MONDO:0015799 DOID:0081271 DOID:0060247 Smith-McCort dysplasia MONDO:0014088 advanced sleep phase syndrome 2 MONDO:0015609 DOID:0110012 DOID:0050628 advanced sleep phase syndrome MONDO:0014093 retinitis pigmentosa 66 MONDO:0019200 DOID:0110393 DOID:10584 retinitis pigmentosa MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0020088 DOID:0070203 DOID:0050440 familial partial lipodystrophy MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 MONDO:0009133 DOID:0070559 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0014108 Fanconi anemia complementation group Q MONDO:0019391 DOID:0111093 DOID:13636 Fanconi anemia MONDO:0014112 cardiofaciocutaneous syndrome 2 MONDO:0015280 DOID:0111461 DOID:0060233 cardiofaciocutaneous syndrome MONDO:0014113 cardiofaciocutaneous syndrome 3 MONDO:0015280 DOID:0111462 DOID:0060233 cardiofaciocutaneous syndrome MONDO:0014114 cardiofaciocutaneous syndrome 4 MONDO:0015280 DOID:0111463 DOID:0060233 cardiofaciocutaneous syndrome MONDO:0014116 complex cortical dysplasia with other brain malformations 2 MONDO:0000904 DOID:0090133 DOID:0090131 complex cortical dysplasia with other brain malformations MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 MONDO:0018995 DOID:0110194 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:0018190 DOID:0070349 DOID:0070348 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0014123 primary ciliary dyskinesia 21 MONDO:0016575 DOID:0110596 DOID:9562 primary ciliary dyskinesia MONDO:0014125 symphalangism, proximal, 1B MONDO:0008511 DOID:0080788 DOID:0050788 proximal symphalangism MONDO:0014127 oculocutaneous albinism type 5 MONDO:0018910 DOID:0070099 DOID:0050632 oculocutaneous albinism MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 MONDO:0017338 DOID:0080135 DOID:0070330 fatal multiple mitochondrial dysfunctions syndrome MONDO:0014137 precocious puberty, central, 2 MONDO:0019165 DOID:0112309 DOID:0112308 central precocious puberty MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0000172 DOID:0112377 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0015152 DOID:0110294 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0014143 Noonan syndrome 8 MONDO:0018997 DOID:0060586 DOID:3490 Noonan syndrome MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:0015152 DOID:0110287 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0014145 Leber congenital amaurosis 17 MONDO:0018998 DOID:0110217 DOID:14791 Leber congenital amaurosis MONDO:0014146 autosomal dominant hypocalcemia 2 MONDO:0018543 DOID:0090108 DOID:0090109 autosomal dominant hypocalcemia MONDO:0014153 cone-rod dystrophy 18 MONDO:0015993 DOID:0111024 DOID:0050572 cone-rod dystrophy MONDO:0014158 nephronophthisis 16 MONDO:0019005 DOID:0111124 DOID:12712 nephronophthisis MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 MONDO:0015244 DOID:0080058 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:0000732 DOID:0111469 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0100247 DOID:0080140 DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0014167 epilepsy, familial adult myoclonic, 5 MONDO:0000160 DOID:0111691 DOID:0111689 epilepsy, familial adult myoclonic MONDO:0014170 complex cortical dysplasia with other brain malformations 3 MONDO:0000904 DOID:0090134 DOID:0090131 complex cortical dysplasia with other brain malformations MONDO:0014171 complex cortical dysplasia with other brain malformations 4 MONDO:0000904 DOID:0090138 DOID:0090131 complex cortical dysplasia with other brain malformations MONDO:0014172 spermatogenic failure 12 MONDO:0004983 DOID:0070171 DOID:0111910 spermatogenic failure MONDO:0014173 microcephaly 11, primary, autosomal recessive MONDO:0016660 DOID:0070287 DOID:0070296 autosomal recessive primary microcephaly MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive MONDO:0018158 DOID:0080335 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0000507 DOID:0111384 DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0000507 DOID:0111386 DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 MONDO:0019588 DOID:0110533 DOID:0050565 hearing loss, autosomal recessive MONDO:0014186 retinitis pigmentosa with or without situs inversus MONDO:0019200 DOID:0110419 DOID:10584 retinitis pigmentosa MONDO:0014190 combined oxidative phosphorylation defect type 17 MONDO:0000732 DOID:0111496 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 MONDO:0017990 DOID:0060679 DOID:0060674 catecholaminergic polymorphic ventricular tachycardia MONDO:0014192 primary ciliary dyskinesia 22 MONDO:0016575 DOID:0110597 DOID:9562 primary ciliary dyskinesia MONDO:0014193 primary ciliary dyskinesia 23 MONDO:0016575 DOID:0110609 DOID:9562 primary ciliary dyskinesia MONDO:0014197 combined immunodeficiency due to MALT1 deficiency MONDO:0015131 DOID:0111988 DOID:0111962 combined immunodeficiency MONDO:0014199 developmental and epileptic encephalopathy, 17 MONDO:0100062 DOID:0080450 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014201 developmental and epileptic encephalopathy, 18 MONDO:0100062 DOID:0080413 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014202 primary ciliary dyskinesia 24 MONDO:0016575 DOID:0110628 DOID:9562 primary ciliary dyskinesia MONDO:0014203 primary ciliary dyskinesia 25 MONDO:0016575 DOID:0110615 DOID:9562 primary ciliary dyskinesia MONDO:0014207 age related macular degeneration 14 MONDO:0005150 DOID:0110026 DOID:10871 age-related macular degeneration MONDO:0014208 Charcot-Marie-Tooth disease type 2R MONDO:0018993 DOID:0110161 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0019064 DOID:0112344 DOID:2476 hereditary spastic paraplegia MONDO:0014211 primary ciliary dyskinesia 26 MONDO:0016575 DOID:0110627 DOID:9562 primary ciliary dyskinesia MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0020480 DOID:0111166 DOID:0111165 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly MONDO:0018770 DOID:0110094 DOID:0050592 Jeune syndrome MONDO:0014215 primary ciliary dyskinesia 27 MONDO:0016575 DOID:0110611 DOID:9562 primary ciliary dyskinesia MONDO:0014216 primary ciliary dyskinesia 28 MONDO:0016575 DOID:0110607 DOID:9562 primary ciliary dyskinesia MONDO:0014219 alacrima, achalasia, and intellectual disability syndrome MONDO:0006025 DOID:0112321 DOID:0050737 autosomal recessive disease MONDO:0014221 triosephosphate isomerase deficiency MONDO:0002908 DOID:0050884 DOID:4194 glucose metabolism disease MONDO:0014225 hemochromatosis type 5 MONDO:0006507 DOID:0111031 DOID:2352 hereditary hemochromatosis MONDO:0014229 microphthalmia, syndromic 12 MONDO:0016073 DOID:0111800 DOID:0080636 syndromic microphthalmia MONDO:0014233 early-onset Parkinson disease 20 MONDO:0017279 DOID:0060898 DOID:0060894 young-onset Parkinson disease MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 MONDO:0019588 DOID:0110524 DOID:0050565 hearing loss, autosomal recessive MONDO:0014242 van Maldergem syndrome 2 MONDO:0017813 DOID:0080586 DOID:0060238 van Maldergem syndrome MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 MONDO:0015364 DOID:0070149 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0014245 Diamond-Blackfan anemia 12 MONDO:0015253 DOID:0111882 DOID:1339 Diamond-Blackfan anemia MONDO:0014246 episodic pain syndrome, familial, 2 MONDO:0018319 DOID:0111730 DOID:0111728 familial episodic pain syndrome MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement MONDO:0018319 DOID:0111731 DOID:0111728 familial episodic pain syndrome MONDO:0014252 familial hypobetalipoproteinemia 1 MONDO:0017774 DOID:0111062 DOID:1390 hypobetalipoproteinemia MONDO:0014256 retinitis pigmentosa 67 MONDO:0019200 DOID:0110359 DOID:10584 retinitis pigmentosa MONDO:0014260 immunodeficiency, common variable, 10 MONDO:0015517 DOID:0081152 DOID:12177 common variable immunodeficiency MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0000732 DOID:0111484 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014262 Rienhoff syndrome MONDO:0018954 DOID:0070236 DOID:0050466 Loeys-Dietz syndrome MONDO:0014264 otosclerosis 10 MONDO:0005349 DOID:0060927 DOID:12185 otosclerosis MONDO:0014265 Alzheimer disease 18 MONDO:0004975 DOID:0110050 DOID:10652 Alzheimer disease MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0015131 DOID:0111935 DOID:628 combined immunodeficiency MONDO:0014269 combined oxidative phosphorylation deficiency 19 MONDO:0000732 DOID:0111476 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0005500 DOID:0080572 DOID:0050570 congenital disorder of glycosylation type I MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0005500 DOID:0080573 DOID:0050570 congenital disorder of glycosylation type I MONDO:0014277 developmental dysplasia of the hip 2 MONDO:0000158 DOID:0060932 DOID:0060930 developmental dysplasia of the hip MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 MONDO:0019587 DOID:0110581 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly MONDO:0018770 DOID:0110091 DOID:0050592 Jeune syndrome MONDO:0014285 congenital dyserythropoietic anemia type type 1B MONDO:0020337 DOID:0111397 DOID:0111396 congenital dyserythropoietic anemia type 1 MONDO:0014286 neuropathy, hereditary sensory, type 1F MONDO:0018213 DOID:0070154 DOID:0070162 hereditary sensory and autonomic neuropathy type 1 MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly MONDO:0018770 DOID:0110095 DOID:0050592 Jeune syndrome MONDO:0014288 Joubert syndrome 21 MONDO:0018772 DOID:0110990 DOID:0050777 Joubert syndrome MONDO:0014290 neurodegeneration with brain iron accumulation 6 MONDO:0018307 DOID:0110740 DOID:0110734 neurodegeneration with brain iron accumulation MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 MONDO:0019587 DOID:0110580 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 MONDO:0019587 DOID:0110582 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014296 Warburg micro syndrome 4 MONDO:0016649 DOID:0110719 DOID:0060237 Warburg micro syndrome MONDO:0014297 Joubert syndrome 22 MONDO:0018772 DOID:0110991 DOID:0050777 Joubert syndrome MONDO:0014299 LZTR1-related schwannomatosis MONDO:0008075 DOID:0070481 DOID:3204 schwannomatosis MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0005336 DOID:0111335 DOID:423 myopathy MONDO:0014308 familial temporal lobe epilepsy 6 MONDO:0005115 DOID:0060749 DOID:3328 temporal lobe epilepsy MONDO:0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity MONDO:0003778 DOID:0111941 DOID:612 inborn error of immunity MONDO:0014316 Alzheimer disease 19 MONDO:0004975 DOID:0110051 DOID:10652 Alzheimer disease MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 MONDO:0016596 DOID:0070436 DOID:0070431 hyperphosphatasia-intellectual disability syndrome MONDO:0014323 retinitis pigmentosa 68 MONDO:0019200 DOID:0110374 DOID:10584 retinitis pigmentosa MONDO:0014328 developmental and epileptic encephalopathy, 19 MONDO:0100062 DOID:0080431 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014337 complex cortical dysplasia with other brain malformations 5 MONDO:0000904 DOID:0090135 DOID:0090131 complex cortical dysplasia with other brain malformations MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0015517 DOID:0081153 DOID:12177 common variable immunodeficiency MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 MONDO:0015244 DOID:0080029 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0014341 complex cortical dysplasia with other brain malformations 6 MONDO:0000904 DOID:0090136 DOID:0090131 complex cortical dysplasia with other brain malformations MONDO:0014345 retinitis pigmentosa 69 MONDO:0019200 DOID:0110410 DOID:10584 retinitis pigmentosa MONDO:0014346 white sponge nevus 2 MONDO:0015748 DOID:0081288 DOID:0050448 hereditary mucosal leukokeratosis MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0020135 DOID:0060279 DOID:0060264 pontocerebellar hypoplasia MONDO:0014350 Seckel syndrome 8 MONDO:0019342 DOID:0070009 DOID:0050569 Seckel syndrome MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:0020135 DOID:0060278 DOID:0060264 pontocerebellar hypoplasia MONDO:0014352 abdominal obesity-metabolic syndrome 3 MONDO:0000816 DOID:0060612 DOID:0060611 abdominal obesity-metabolic syndrome MONDO:0014354 intellectual disability, autosomal recessive 43 MONDO:0019502 DOID:0081207 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 MONDO:0015999 DOID:0070549 DOID:0060280 primary pigmented nodular adrenocortical disease MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 MONDO:0019588 DOID:0110462 DOID:0050565 hearing loss, autosomal recessive MONDO:0014365 spermatogenic failure 13 MONDO:0004983 DOID:0070182 DOID:0111910 spermatogenic failure MONDO:0014366 spermatogenic failure 14 MONDO:0004983 DOID:0070179 DOID:0111910 spermatogenic failure MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0000426 DOID:0080328 DOID:0050736 autosomal dominant disease MONDO:0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome MONDO:0002254 DOID:0080328 DOID:225 syndromic disease MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0100062 DOID:0080415 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014372 cone-rod dystrophy 19 MONDO:0015993 DOID:0111025 DOID:0050572 cone-rod dystrophy MONDO:0014374 nephronophthisis 18 MONDO:0019005 DOID:0111125 DOID:12712 nephronophthisis MONDO:0014375 congenital diarrhea 7 with exudative enteropathy MONDO:0000824 DOID:0060778 DOID:0060774 congenital diarrhea MONDO:0014376 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MONDO:0015452 DOID:0070057 DOID:1925 Coffin-Siris syndrome MONDO:0014378 primary ciliary dyskinesia 29 MONDO:0016575 DOID:0110600 DOID:9562 primary ciliary dyskinesia MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0016073 DOID:0111802 DOID:0080636 syndromic microphthalmia MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 MONDO:0015762 DOID:0070224 DOID:0070221 progressive familial intrahepatic cholestasis MONDO:0014384 hypotrichosis 12 MONDO:0003037 DOID:0110709 DOID:4535 hypotrichosis MONDO:0014386 platelet-type bleeding disorder 18 MONDO:0000009 DOID:0111051 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0014388 familial median cleft of the upper and lower lips MONDO:0000358 DOID:0080407 DOID:0050567 orofacial cleft MONDO:0014390 hypotrichosis 13 MONDO:0003037 DOID:0110710 DOID:4535 hypotrichosis MONDO:0014393 lymphatic malformation 4 MONDO:0019313 DOID:0070209 DOID:0050580 lymphatic malformation MONDO:0014394 Diamond-Blackfan anemia 13 MONDO:0015253 DOID:0111889 DOID:1339 Diamond-Blackfan anemia MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO:0000732 DOID:0111478 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO:0000732 DOID:0111465 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014400 retinitis pigmentosa 70 MONDO:0019200 DOID:0110392 DOID:10584 retinitis pigmentosa MONDO:0014409 intellectual disability, autosomal recessive 44 MONDO:0019502 DOID:0081208 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:0006025 DOID:0111420 DOID:0050737 autosomal recessive disease MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:0018637 DOID:0111420 DOID:0111417 familial chylomicronemia syndrome MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0015375 DOID:0060958 DOID:4501 orofaciodigital syndrome MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 MONDO:0009049 DOID:0111624 DOID:0111622 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0014418 myopathy, centronuclear, 5 MONDO:0015705 DOID:0111222 DOID:0111216 autosomal recessive centronuclear myopathy MONDO:0014427 cone-rod dystrophy 20 MONDO:0015993 DOID:0111026 DOID:0050572 cone-rod dystrophy MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 MONDO:0019588 DOID:0110463 DOID:0050565 hearing loss, autosomal recessive MONDO:0014430 intellectual disability, autosomal recessive 45 MONDO:0019502 DOID:0081209 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014431 LIPE-related familial partial lipodystrophy MONDO:0020088 DOID:0070206 DOID:0050440 familial partial lipodystrophy MONDO:0014432 Bardet-Biedl syndrome 2 MONDO:0015229 DOID:0110124 DOID:1935 Bardet-Biedl syndrome MONDO:0014433 Bardet-Biedl syndrome 4 MONDO:0015229 DOID:0110126 DOID:1935 Bardet-Biedl syndrome MONDO:0014434 Bardet-Biedl syndrome 5 MONDO:0015229 DOID:0110127 DOID:1935 Bardet-Biedl syndrome MONDO:0014435 Bardet-Biedl syndrome 7 MONDO:0015229 DOID:0110129 DOID:1935 Bardet-Biedl syndrome MONDO:0014436 Bardet-Biedl syndrome 8 MONDO:0015229 DOID:0110130 DOID:1935 Bardet-Biedl syndrome MONDO:0014437 Bardet-Biedl syndrome 9 MONDO:0015229 DOID:0110131 DOID:1935 Bardet-Biedl syndrome MONDO:0014438 Bardet-Biedl syndrome 10 MONDO:0015229 DOID:0110132 DOID:1935 Bardet-Biedl syndrome MONDO:0014439 Bardet-Biedl syndrome 11 MONDO:0015229 DOID:0110133 DOID:1935 Bardet-Biedl syndrome MONDO:0014440 Bardet-Biedl syndrome 12 MONDO:0015229 DOID:0110134 DOID:1935 Bardet-Biedl syndrome MONDO:0014441 Bardet-Biedl syndrome 13 MONDO:0015229 DOID:0110135 DOID:1935 Bardet-Biedl syndrome MONDO:0014442 Bardet-Biedl syndrome 14 MONDO:0015229 DOID:0110136 DOID:1935 Bardet-Biedl syndrome MONDO:0014443 Bardet-Biedl syndrome 15 MONDO:0015229 DOID:0110137 DOID:1935 Bardet-Biedl syndrome MONDO:0014444 Bardet-Biedl syndrome 16 MONDO:0015229 DOID:0110138 DOID:1935 Bardet-Biedl syndrome MONDO:0014445 Bardet-Biedl syndrome 17 MONDO:0015229 DOID:0110139 DOID:1935 Bardet-Biedl syndrome MONDO:0014446 Bardet-Biedl syndrome 18 MONDO:0015229 DOID:0110140 DOID:1935 Bardet-Biedl syndrome MONDO:0014447 Bardet-Biedl syndrome 19 MONDO:0015229 DOID:0110141 DOID:1935 Bardet-Biedl syndrome MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 MONDO:0016596 DOID:0070432 DOID:0070431 hyperphosphatasia-intellectual disability syndrome MONDO:0014465 primary ciliary dyskinesia 30 MONDO:0016575 DOID:0110624 DOID:9562 primary ciliary dyskinesia MONDO:0014468 congenital myasthenic syndrome 7 MONDO:0018940 DOID:0110659 DOID:3635 congenital myasthenic syndrome MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 MONDO:0019588 DOID:0110464 DOID:0050565 hearing loss, autosomal recessive MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 MONDO:0019587 DOID:0110586 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014473 microcephaly 13, primary, autosomal recessive MONDO:0016660 DOID:0070283 DOID:0070296 autosomal recessive primary microcephaly MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0015152 DOID:0110295 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0014476 episodic ataxia type 8 MONDO:0016227 DOID:0050996 DOID:963 hereditary episodic ataxia MONDO:0014480 46,XY sex reversal 9 MONDO:0010765 DOID:0111770 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0014484 microcephaly 12, primary, autosomal recessive MONDO:0016660 DOID:0070284 DOID:0070296 autosomal recessive primary microcephaly MONDO:0014485 pontocerebellar hypoplasia, type 1C MONDO:0016396 DOID:0112334 DOID:0112322 pontocerebellar hypoplasia type 1 MONDO:0014498 familial cold autoinflammatory syndrome 4 MONDO:0018768 DOID:0090065 DOID:0090061 familial cold autoinflammatory syndrome MONDO:0014499 intellectual disability, autosomal recessive 46 MONDO:0019502 DOID:0081210 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014505 developmental and epileptic encephalopathy, 27 MONDO:0100062 DOID:0080444 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014506 hypomyelinating leukodystrophy 9 MONDO:0019046 DOID:0060791 DOID:0060786 leukodystrophy MONDO:0014511 Charcot-Marie-Tooth disease axonal type 2S MONDO:0018993 DOID:0110171 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014516 microcephaly and chorioretinopathy 2 MONDO:0006025 DOID:0080106 DOID:0050737 autosomal recessive disease MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 MONDO:0018214 DOID:0111301 DOID:0060170 generalized epilepsy with febrile seizures plus MONDO:0014518 platelet-type bleeding disorder 19 MONDO:0000009 DOID:0111048 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0014521 progressive myoclonic epilepsy type 7 MONDO:0020074 DOID:0111447 DOID:891 progressive myoclonus epilepsy MONDO:0014524 intellectual disability, autosomal recessive 47 MONDO:0019502 DOID:0081211 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0000732 DOID:0111500 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014528 chronic atrial and intestinal dysrhythmia MONDO:0002254 DOID:0060339 DOID:225 syndromic disease MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0009637 DOID:0081357 DOID:699 inborn mitochondrial myopathy MONDO:0014534 lissencephaly 6 with microcephaly MONDO:0015204 DOID:0112236 DOID:0112234 microlissencephaly MONDO:0014537 nephronophthisis 19 MONDO:0019005 DOID:0111126 DOID:12712 nephronophthisis MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 MONDO:0007614 DOID:0081020 DOID:0080143 congenital fibrosis of extraocular muscles MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0002254 DOID:0111713 DOID:225 syndromic disease MONDO:0014542 congenital myasthenic syndrome 15 MONDO:0018940 DOID:0110658 DOID:3635 congenital myasthenic syndrome MONDO:0014545 progressive myoclonic epilepsy type 8 MONDO:0020074 DOID:0111451 DOID:891 progressive myoclonus epilepsy MONDO:0014547 combined oxidative phosphorylation defect type 24 MONDO:0000732 DOID:0111485 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0017359 DOID:0110003 DOID:0060336 3-methylglutaconic aciduria MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0018151 DOID:0070244 DOID:0050730 coenzyme Q10 deficiency MONDO:0014564 congenital bile acid synthesis defect 5 MONDO:0018841 DOID:0111066 DOID:0050674 congenital bile acid synthesis defect MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U MONDO:0018993 DOID:0110173 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014572 Lichtenstein-Knorr syndrome MONDO:0015244 DOID:0080065 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly MONDO:0018770 DOID:0110093 DOID:0050592 Jeune syndrome MONDO:0014580 intellectual disability, autosomal dominant 33 MONDO:0015802 DOID:0070063 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0014589 maturity-onset diabetes of the young type 13 MONDO:0018911 DOID:0111110 DOID:0050524 maturity-onset diabetes of the young MONDO:0014590 congenital myasthenic syndrome 18 MONDO:0018940 DOID:0110683 DOID:3635 congenital myasthenic syndrome MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 MONDO:0019587 DOID:0110588 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014595 developmental and epileptic encephalopathy, 30 MONDO:0100062 DOID:0080465 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia MONDO:0018838 DOID:0112231 DOID:0050453 lissencephaly spectrum disorders MONDO:0014597 immunodeficiency 39 MONDO:0003778 DOID:0111969 DOID:612 inborn error of immunity MONDO:0014599 intellectual disability, autosomal dominant 34 MONDO:0015802 DOID:0070064 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 MONDO:0015780 DOID:0070024 DOID:2729 dyskeratosis congenita MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0015244 DOID:0080066 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 MONDO:0019587 DOID:0110566 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014604 Parkinson disease 21 MONDO:0008199 DOID:0111251 DOID:0060892 late-onset Parkinson disease MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0002254 DOID:0060365 DOID:225 syndromic disease MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0017338 DOID:0080136 DOID:0070330 fatal multiple mitochondrial dysfunctions syndrome MONDO:0014614 congenital stationary night blindness 1G MONDO:0006025 DOID:0110714 DOID:0050737 autosomal recessive disease MONDO:0014614 congenital stationary night blindness 1G MONDO:0016293 DOID:0110714 DOID:0050534 congenital stationary night blindness MONDO:0014615 trichothiodystrophy 2, photosensitive MONDO:0002470 DOID:0111869 DOID:2960 photosensitive trichothiodystrophy MONDO:0014618 retinitis pigmentosa 71 MONDO:0019200 DOID:0110363 DOID:10584 retinitis pigmentosa MONDO:0014619 trichothiodystrophy 3, photosensitive MONDO:0002470 DOID:0111871 DOID:2960 photosensitive trichothiodystrophy MONDO:0014620 myoclonic dystonia 26 MONDO:0000903 DOID:0090036 DOID:0090033 myoclonus-dystonia syndrome MONDO:0014621 Brugada syndrome 9 MONDO:0015263 DOID:0110226 DOID:0050451 Brugada syndrome MONDO:0014623 microcephaly 14, primary, autosomal recessive MONDO:0016660 DOID:0070279 DOID:0070296 autosomal recessive primary microcephaly MONDO:0014624 Brown syndrome MONDO:0004753 DOID:10235 DOID:9306 mechanical strabismus MONDO:0014627 dystonia 27 MONDO:0000479 DOID:0090050 DOID:0050838 segmental dystonia MONDO:0014630 familial adenomatous polyposis 3 MONDO:0021055 DOID:0080411 DOID:0050424 classic familial adenomatous polyposis MONDO:0014632 hypomyelinating leukodystrophy 10 MONDO:0019046 DOID:0060788 DOID:0060786 leukodystrophy MONDO:0014634 46,XY sex reversal 10 MONDO:0010765 DOID:0111775 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0000732 DOID:0111468 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014638 Fanconi anemia complementation group T MONDO:0019391 DOID:0111081 DOID:13636 Fanconi anemia MONDO:0014639 familial temporal lobe epilepsy 7 MONDO:0005115 DOID:0060751 DOID:3328 temporal lobe epilepsy MONDO:0014647 developmental and epileptic encephalopathy, 50 MONDO:0100062 DOID:0080419 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014649 intellectual disability, autosomal recessive 50 MONDO:0019502 DOID:0081213 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014650 familial temporal lobe epilepsy 8 MONDO:0005115 DOID:0060754 DOID:3328 temporal lobe epilepsy MONDO:0014651 acrofacial dysostosis Cincinnati type MONDO:0018237 DOID:0060353 DOID:0060379 acrofacial dysostosis MONDO:0014652 exudative vitreoretinopathy 6 MONDO:0019516 DOID:0111410 DOID:0050535 exudative vitreoretinopathy MONDO:0014653 retinitis pigmentosa 72 MONDO:0019200 DOID:0110395 DOID:10584 retinitis pigmentosa MONDO:0014654 Ullrich congenital muscular dystrophy 2 MONDO:0000355 DOID:0060948 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0014657 primary ciliary dyskinesia 32 MONDO:0016575 DOID:0110603 DOID:9562 primary ciliary dyskinesia MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0000426 DOID:0111158 DOID:0050736 autosomal dominant disease MONDO:0014660 microcephaly 15, primary, autosomal recessive MONDO:0016660 DOID:0070277 DOID:0070296 autosomal recessive primary microcephaly MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0015364 DOID:0070153 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0014664 Joubert syndrome 23 MONDO:0018772 DOID:0110992 DOID:0050777 Joubert syndrome MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V MONDO:0018993 DOID:0110178 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014667 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 MONDO:0015487 DOID:0080359 DOID:0050713 fatal infantile encephalocardiomyopathy MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 MONDO:0015487 DOID:0080360 DOID:0050713 fatal infantile encephalocardiomyopathy MONDO:0014669 cone-rod dystrophy 21 MONDO:0015993 DOID:0081447 DOID:0050572 cone-rod dystrophy MONDO:0014674 maturity-onset diabetes of the young type 14 MONDO:0018911 DOID:0111111 DOID:0050524 maturity-onset diabetes of the young MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 MONDO:0019588 DOID:0110465 DOID:0050565 hearing loss, autosomal recessive MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive MONDO:0016830 DOID:0070248 DOID:11726 Emery-Dreifuss muscular dystrophy MONDO:0014677 achromatopsia 7 MONDO:0018852 DOID:0110009 DOID:13911 achromatopsia MONDO:0014684 combined oxidative phosphorylation defect type 26 MONDO:0000732 DOID:0111490 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014685 progressive myoclonic epilepsy type 9 MONDO:0020074 DOID:0111450 DOID:891 progressive myoclonus epilepsy MONDO:0014687 retinitis pigmentosa 73 MONDO:0019200 DOID:0110389 DOID:10584 retinitis pigmentosa MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly MONDO:0018770 DOID:0110096 DOID:0050592 Jeune syndrome MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0001029 DOID:0080592 DOID:10426 Klippel-Feil syndrome MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 MONDO:0000426 DOID:0070023 DOID:0050736 autosomal dominant disease MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 MONDO:0015780 DOID:0070023 DOID:2729 dyskeratosis congenita MONDO:0014691 Noonan syndrome 9 MONDO:0018997 DOID:0060587 DOID:3490 Noonan syndrome MONDO:0014692 retinitis pigmentosa 74 MONDO:0019200 DOID:0110401 DOID:10584 retinitis pigmentosa MONDO:0014693 Noonan syndrome 10 MONDO:0018997 DOID:0060588 DOID:3490 Noonan syndrome MONDO:0014696 cerebrooculofacioskeletal syndrome 3 MONDO:0008926 DOID:0080913 DOID:0080910 COFS syndrome MONDO:0014697 immunodeficiency, common variable, 12 MONDO:0015517 DOID:0081154 DOID:12177 common variable immunodeficiency MONDO:0014706 cutis laxa, autosomal dominant 3 MONDO:0019571 DOID:0070131 DOID:0070142 autosomal dominant cutis laxa MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W MONDO:0018993 DOID:0110162 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:0003778 DOID:0111975 DOID:612 inborn error of immunity MONDO:0014717 early-onset Lafora body disease MONDO:0020074 DOID:0111445 DOID:891 progressive myoclonus epilepsy MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0100062 DOID:0080458 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014724 Joubert syndrome 24 MONDO:0018772 DOID:0110993 DOID:0050777 Joubert syndrome MONDO:0014726 Charcot-Marie-Tooth disease axonal type 2X MONDO:0018993 DOID:0110176 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0000732 DOID:0111489 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014730 microcephaly 16, primary, autosomal recessive MONDO:0016660 DOID:0070289 DOID:0070296 autosomal recessive primary microcephaly MONDO:0014732 hypomyelinating leukodystrophy 12 MONDO:0019046 DOID:0060796 DOID:0060786 leukodystrophy MONDO:0014733 Charcot-Marie-Tooth disease type 4K MONDO:0018995 DOID:0110187 DOID:0050541 Charcot-Marie-Tooth disease type 4 MONDO:0014735 Charcot-Marie-Tooth disease type 2Y MONDO:0018993 DOID:0110168 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z MONDO:0018993 DOID:0110181 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014737 dehydrated hereditary stomatocytosis 2 MONDO:0017910 DOID:0111577 DOID:0111575 dehydrated hereditary stomatocytosis MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 MONDO:0019587 DOID:0110590 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 MONDO:0019588 DOID:0110539 DOID:0050565 hearing loss, autosomal recessive MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 MONDO:0019587 DOID:0110589 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014742 Parkinson disease 22, autosomal dominant MONDO:0008199 DOID:0080504 DOID:0060892 late-onset Parkinson disease MONDO:0014746 SLC39A8-CDG MONDO:0005501 DOID:0070266 DOID:0050571 congenital disorder of glycosylation type II MONDO:0014750 primary ciliary dyskinesia 33 MONDO:0016575 DOID:0110619 DOID:9562 primary ciliary dyskinesia MONDO:0014754 primary coenzyme Q10 deficiency 8 MONDO:0018151 DOID:0070245 DOID:0050730 coenzyme Q10 deficiency MONDO:0014755 skin creases, congenital symmetric circumferential, 2 MONDO:0007990 DOID:0112243 DOID:0112241 multiple benign circumferential skin creases on limbs MONDO:0014756 tremor, hereditary essential, 5 MONDO:0003233 DOID:0111432 DOID:4990 essential tremor MONDO:0014759 intellectual disability, autosomal recessive 51 MONDO:0019502 DOID:0081214 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014765 wooly hair, autosomal recessive 3 MONDO:0008686 DOID:0111574 DOID:0111572 isolated familial wooly hair disorder MONDO:0014767 Seckel syndrome 9 MONDO:0019342 DOID:0070005 DOID:0050569 Seckel syndrome MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MONDO:0007432 DOID:0111036 DOID:13945 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:0014770 Joubert syndrome 25 MONDO:0018772 DOID:0110994 DOID:0050777 Joubert syndrome MONDO:0014771 Joubert syndrome 26 MONDO:0018772 DOID:0110995 DOID:0050777 Joubert syndrome MONDO:0014775 combined oxidative phosphorylation deficiency 28 MONDO:0000732 DOID:0111470 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 MONDO:0016596 DOID:0070437 DOID:0070431 hyperphosphatasia-intellectual disability syndrome MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0000732 DOID:0111501 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0006025 DOID:0111501 DOID:0050737 autosomal recessive disease MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0015152 DOID:0110290 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W MONDO:0015152 DOID:0110288 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0014789 CCDC115-CDG MONDO:0005501 DOID:0070267 DOID:0050571 congenital disorder of glycosylation type II MONDO:0014790 TMEM199-CDG MONDO:0005501 DOID:0070268 DOID:0050571 congenital disorder of glycosylation type II MONDO:0014792 Paget disease of bone 6 MONDO:0005382 DOID:0081369 DOID:5408 bone Paget disease MONDO:0014794 Meier-Gorlin syndrome 6 MONDO:0016817 DOID:0080517 DOID:0060306 Meier-Gorlin syndrome MONDO:0014796 autosomal recessive early-onset Parkinson disease 23 MONDO:0017279 DOID:0060896 DOID:0060894 young-onset Parkinson disease MONDO:0014802 Cowden syndrome 7 MONDO:0016063 DOID:0081003 DOID:6457 Cowden disease MONDO:0014810 pancytopenia due to IKZF1 mutations MONDO:0015517 DOID:0081155 DOID:12177 common variable immunodeficiency MONDO:0014813 hypomyelinating leukodystrophy 13 MONDO:0019046 DOID:0060795 DOID:0060786 leukodystrophy MONDO:0014814 advanced sleep phase syndrome 3 MONDO:0015609 DOID:0110013 DOID:0050628 advanced sleep phase syndrome MONDO:0014815 intellectual disability, autosomal recessive 52 MONDO:0019502 DOID:0081215 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0018158 DOID:0080336 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 MONDO:0000133 DOID:0090010 DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 MONDO:0000133 DOID:0090011 DOID:0090007 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0014830 platelet-type bleeding disorder 20 MONDO:0000009 DOID:0111055 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0014836 Charcot-Marie-Tooth disease axonal type 2CC MONDO:0018993 DOID:0110180 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014838 Coffin-Siris syndrome 5 MONDO:0015452 DOID:0112368 DOID:1925 Coffin-Siris syndrome MONDO:0014842 intellectual disability, autosomal dominant 41 MONDO:0015802 DOID:0070071 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0014845 spinocerebellar ataxia, autosomal recessive 22 MONDO:0015244 DOID:0111614 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0014847 spermatogenic failure 15 MONDO:0004983 DOID:0070172 DOID:0111910 spermatogenic failure MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 MONDO:0019587 DOID:0110592 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 MONDO:0019587 DOID:0110587 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0000732 DOID:0111471 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014858 intellectual disability, autosomal dominant 43 MONDO:0015802 DOID:0070073 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0014859 developmental and epileptic encephalopathy, 37 MONDO:0100062 DOID:0080435 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014860 polycystic liver disease 2 MONDO:0000447 DOID:0060975 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 MONDO:0016215 DOID:0081361 DOID:10970 spastic quadriplegic cerebral palsy MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0000214 DOID:0080537 DOID:0080535 hypermanganesemia with dystonia MONDO:0014866 Charcot-Marie-Tooth disease axonal type 2T MONDO:0018993 DOID:0110160 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0014867 spinocerebellar ataxia 43 MONDO:0020380 DOID:0111745 DOID:1441 autosomal dominant cerebellar ataxia MONDO:0014868 developmental and epileptic encephalopathy, 38 MONDO:0100062 DOID:0080417 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014871 retinitis pigmentosa 75 MONDO:0019200 DOID:0110361 DOID:10584 retinitis pigmentosa MONDO:0014872 congenital stationary night blindness 1H MONDO:0016293 DOID:0110866 DOID:0050534 congenital stationary night blindness MONDO:0014874 pontocerebellar hypoplasia, type 2F MONDO:0016759 DOID:0112329 DOID:0112328 pontocerebellar hypoplasia type 2 MONDO:0014876 intellectual disability, autosomal recessive 54 MONDO:0019502 DOID:0081216 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0019064 DOID:0110822 DOID:2476 hereditary spastic paraplegia MONDO:0014883 hypertrophic cardiomyopathy 26 MONDO:0024573 DOID:0110327 DOID:0080326 familial hypertrophic cardiomyopathy MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 MONDO:0015762 DOID:0070225 DOID:0070221 progressive familial intrahepatic cholestasis MONDO:0014890 PERCHING syndrome MONDO:0015526 DOID:0080331 DOID:0060294 cold-induced sweating syndrome MONDO:0014894 Meier-Gorlin syndrome 7 MONDO:0016817 DOID:0080518 DOID:0060306 Meier-Gorlin syndrome MONDO:0014895 developmental and epileptic encephalopathy, 40 MONDO:0100062 DOID:0080427 DOID:0112202 developmental and epileptic encephalopathy MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:0015152 DOID:0110289 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0014903 seizures, benign familial infantile, 5 MONDO:0017615 DOID:0081118 DOID:0060169 benign familial infantile epilepsy MONDO:0014904 congenital disorder of glycosylation, type IAA MONDO:0005500 DOID:0080553 DOID:0050570 congenital disorder of glycosylation type I MONDO:0014908 microcephaly 17, primary, autosomal recessive MONDO:0016660 DOID:0070288 DOID:0070296 autosomal recessive primary microcephaly MONDO:0014909 primary ciliary dyskinesia 34 MONDO:0016575 DOID:0110610 DOID:9562 primary ciliary dyskinesia MONDO:0014910 primary ciliary dyskinesia 35 MONDO:0016575 DOID:0110620 DOID:9562 primary ciliary dyskinesia MONDO:0014920 patterned macular dystrophy 3 MONDO:0020381 DOID:0060865 DOID:0060863 patterned macular dystrophy MONDO:0014922 myofibrillar myopathy 7 MONDO:0018943 DOID:0080098 DOID:0080307 myofibrillar myopathy MONDO:0014923 peeling skin syndrome 5 MONDO:0019347 DOID:0070524 DOID:0060283 peeling skin syndrome MONDO:0014924 epilepsy, familial focal, with variable foci 2 MONDO:0020310 DOID:0081422 DOID:0081420 familial focal epilepsy with variable foci MONDO:0014925 epilepsy, familial focal, with variable foci 3 MONDO:0020310 DOID:0081423 DOID:0081420 familial focal epilepsy with variable foci MONDO:0014926 Bardet-Biedl syndrome 22 MONDO:0015229 DOID:0081011 DOID:1935 Bardet-Biedl syndrome MONDO:0014927 Joubert syndrome 27 MONDO:0018772 DOID:0110996 DOID:0050777 Joubert syndrome MONDO:0014928 Joubert syndrome 28 MONDO:0018772 DOID:0110997 DOID:0050777 Joubert syndrome MONDO:0014930 intellectual disability, autosomal recessive 56 MONDO:0019502 DOID:0081217 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014935 frontometaphyseal dysplasia 2 MONDO:0015942 DOID:0111787 DOID:0111785 frontometaphyseal dysplasia MONDO:0014939 congenital myasthenic syndrome 20 MONDO:0018940 DOID:0110661 DOID:3635 congenital myasthenic syndrome MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MONDO:0018158 DOID:0080337 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0014945 myopathy, distal, with rimmed vacuoles MONDO:0018949 DOID:0081363 DOID:11720 distal myopathy MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 MONDO:0019502 DOID:0081218 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome MONDO:0006025 DOID:0081008 DOID:0050737 autosomal recessive disease MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant MONDO:0018158 DOID:0080130 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0014962 intellectual disability, autosomal recessive 57 MONDO:0019502 DOID:0081219 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014970 spermatogenic failure 17 MONDO:0004983 DOID:0070174 DOID:0111910 spermatogenic failure MONDO:0014975 autosomal recessive spastic paraplegia type 78 MONDO:0006025 DOID:0112348 DOID:0050737 autosomal recessive disease MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0000732 DOID:0111488 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0015152 DOID:0080762 DOID:0110274 autosomal recessive limb-girdle muscular dystrophy MONDO:0014983 congenital myasthenic syndrome 21 MONDO:0018940 DOID:0110672 DOID:3635 congenital myasthenic syndrome MONDO:0014985 Fanconi anemia complementation group V MONDO:0019391 DOID:0111080 DOID:13636 Fanconi anemia MONDO:0014986 Fanconi anemia complementation group R MONDO:0019391 DOID:0111090 DOID:13636 Fanconi anemia MONDO:0014987 Fanconi anemia complementation group U MONDO:0019391 DOID:0111085 DOID:13636 Fanconi anemia MONDO:0014991 Seckel syndrome 10 MONDO:0019342 DOID:0070008 DOID:0050569 Seckel syndrome MONDO:0014992 lissencephaly 8 MONDO:0018838 DOID:0112233 DOID:0050453 lissencephaly spectrum disorders MONDO:0014993 myofibrillar myopathy 8 MONDO:0018943 DOID:0080308 DOID:0080307 myofibrillar myopathy MONDO:0014996 intellectual disability, autosomal recessive 58 MONDO:0019502 DOID:0081220 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014997 nephronophthisis 20 MONDO:0019005 DOID:0111127 DOID:12712 nephronophthisis MONDO:0015000 developmental and epileptic encephalopathy, 48 MONDO:0100062 DOID:0080448 DOID:0112202 developmental and epileptic encephalopathy MONDO:0015002 developmental and epileptic encephalopathy, 49 MONDO:0100062 DOID:0080441 DOID:0112202 developmental and epileptic encephalopathy MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent MONDO:0009945 DOID:0080769 DOID:0080768 pyridoxine-dependent epilepsy MONDO:0015013 retinitis pigmentosa 77 MONDO:0019200 DOID:0080350 DOID:10584 retinitis pigmentosa MONDO:0015015 congenital bile acid synthesis defect 6 MONDO:0018841 DOID:0111067 DOID:0050674 congenital bile acid synthesis defect MONDO:0015016 anterior segment dysgenesis 6 MONDO:0019503 DOID:0080611 DOID:0060648 anterior segment dysgenesis MONDO:0015017 anterior segment dysgenesis 8 MONDO:0019503 DOID:0080613 DOID:0060648 anterior segment dysgenesis MONDO:0015020 intellectual disability, autosomal recessive 59 MONDO:0019502 DOID:0081221 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0015023 MYPN-related myopathy MONDO:0018958 DOID:0110933 DOID:3191 nemaline myopathy MONDO:0015025 developmental and epileptic encephalopathy, 51 MONDO:0100062 DOID:0080433 DOID:0112202 developmental and epileptic encephalopathy MONDO:0015032 intraneural perineurioma MONDO:0019404 DOID:4696 DOID:4697 perineurioma MONDO:0015044 mu-heavy chain disease MONDO:0019464 DOID:0060128 DOID:0060125 heavy chain disease MONDO:0015045 alpha-heavy chain disease MONDO:0019464 DOID:0060126 DOID:0060125 heavy chain disease MONDO:0015046 gamma-heavy chain disease MONDO:0019464 DOID:0060127 DOID:0060125 heavy chain disease MONDO:0015075 thyroid gland carcinoma MONDO:0002108 DOID:3963 DOID:1781 thyroid cancer MONDO:0015075 thyroid gland carcinoma MONDO:0004993 DOID:3963 DOID:305 carcinoma MONDO:0015104 porphyria cutanea tarda MONDO:0002520 DOID:3132 DOID:3133 hepatic porphyria MONDO:0015129 chronic primary adrenal insufficiency MONDO:0000004 DOID:13774 DOID:10493 adrenocortical insufficiency MONDO:0015148 lissencephaly type 3 MONDO:0018838 DOID:0112232 DOID:0050453 lissencephaly spectrum disorders MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0000426 DOID:0110273 DOID:0050736 autosomal dominant disease MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0016971 DOID:0110273 DOID:11724 limb-girdle muscular dystrophy MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy MONDO:0006025 DOID:0110274 DOID:0050737 autosomal recessive disease MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy MONDO:0016971 DOID:0110274 DOID:11724 limb-girdle muscular dystrophy MONDO:0015175 autoimmune pancreatitis MONDO:0000569 DOID:0040091 DOID:0060005 autoimmune disorder of endocrine system MONDO:0015183 short bowel syndrome MONDO:0005020 DOID:10605 DOID:5295 intestinal disorder MONDO:0015204 microlissencephaly MONDO:0018838 DOID:0112234 DOID:0050453 lissencephaly spectrum disorders MONDO:0015229 Bardet-Biedl syndrome MONDO:0002254 DOID:1935 DOID:225 syndromic disease MONDO:0015229 Bardet-Biedl syndrome MONDO:0006025 DOID:1935 DOID:0050737 autosomal recessive disease MONDO:0015231 Bartter syndrome MONDO:0006510 DOID:445 DOID:447 renal tubular transport disease MONDO:0015240 digitotalar dysmorphism MONDO:0019942 DOID:0111596 DOID:0050646 distal arthrogryposis MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0000771 DOID:13166 DOID:0060496 allergic respiratory disease MONDO:0015243 allergic bronchopulmonary aspergillosis MONDO:0005657 DOID:13166 DOID:13564 aspergillosis MONDO:0015244 autosomal recessive cerebellar ataxia MONDO:0006025 DOID:0050950 DOID:0050737 autosomal recessive disease MONDO:0015253 Diamond-Blackfan anemia MONDO:0001705 DOID:1339 DOID:1340 pure red-cell aplasia MONDO:0015254 schistosomiasis MONDO:0004664 DOID:1395 DOID:883 helminthiasis MONDO:0015262 brachyolmia MONDO:0005516 DOID:0050690 DOID:2256 osteochondrodysplasia MONDO:0015263 Brugada syndrome MONDO:0000992 DOID:0050451 DOID:10273 heart conduction disease MONDO:0015264 cryptogenic organizing pneumonia MONDO:0002429 DOID:0050157 DOID:2797 idiopathic interstitial pneumonia MONDO:0015265 bronchiolitis obliterans syndrome MONDO:0015925 DOID:2799 DOID:3082 interstitial lung disease MONDO:0015267 Feingold syndrome MONDO:0000426 DOID:0060464 DOID:0050736 autosomal dominant disease MONDO:0015267 Feingold syndrome MONDO:0002254 DOID:0060464 DOID:225 syndromic disease MONDO:0015274 chronic beryllium disease MONDO:0015926 DOID:10322 DOID:10316 pneumoconiosis MONDO:0015285 Carney complex MONDO:0000426 DOID:0050471 DOID:0050736 autosomal dominant disease MONDO:0015301 primary cutaneous amyloidosis MONDO:0019065 DOID:0050639 DOID:9120 amyloidosis MONDO:0015304 arachnoiditis MONDO:0004796 DOID:12156 DOID:9471 infectious meningitis MONDO:0015306 Lemierre syndrome MONDO:0000315 DOID:11337 DOID:0050339 commensal bacterial infectious disease MONDO:0015347 multicentric reticulohistiocytosis MONDO:0002254 DOID:11824 DOID:225 syndromic disease MONDO:0015352 distal hereditary motor neuropathy type 2 MONDO:0015362 DOID:0111206 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015355 distal hereditary motor neuropathy type 7 MONDO:0015362 DOID:0111199 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0000426 DOID:0111198 DOID:0050736 autosomal dominant disease MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0001516 DOID:0111198 DOID:12377 spinal muscular atrophy MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0006025 DOID:0111197 DOID:0050737 autosomal recessive disease MONDO:0015397 craniofacial microsomia MONDO:0002254 DOID:2907 DOID:225 syndromic disease MONDO:0015426 Desbuquois dysplasia MONDO:0005516 DOID:0060462 DOID:2256 osteochondrodysplasia MONDO:0015452 Coffin-Siris syndrome MONDO:0002254 DOID:1925 DOID:225 syndromic disease MONDO:0015453 Cogan syndrome MONDO:0005328 DOID:0060216 DOID:5614 eye disorder MONDO:0015454 multiple carboxylase deficiency MONDO:0019214 DOID:857 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0015469 craniosynostosis MONDO:0001411 DOID:2340 DOID:11971 synostosis MONDO:0015474 cryptosporidiosis MONDO:0005707 DOID:1733 DOID:2113 coccidiosis MONDO:0015484 cysticercosis MONDO:0000367 DOID:10079 DOID:0050596 taeniasis MONDO:0015486 keratoconus MONDO:0000942 DOID:10126 DOID:10124 corneal disorder MONDO:0015528 congenital epulis MONDO:0003396 DOID:7280 DOID:5337 epulis MONDO:0015531 non-Langerhans cell histiocytosis MONDO:0002637 DOID:4330 DOID:3405 histiocytosis MONDO:0015534 juvenile xanthogranuloma MONDO:0015531 DOID:4424 DOID:4330 non-Langerhans cell histiocytosis MONDO:0015540 hemophagocytic syndrome MONDO:0005833 DOID:0050120 DOID:75 lymphatic system disorder MONDO:0015564 Castleman disease MONDO:0016537 DOID:0111157 DOID:0060704 lymphoproliferative syndrome MONDO:0015588 limbic encephalitis MONDO:0019956 DOID:0080741 DOID:9588 encephalitis MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0020119 DOID:0111840 DOID:0060309 X-linked syndromic intellectual disability MONDO:0015611 neutral lipid storage disease MONDO:0019245 DOID:0050729 DOID:9455 lysosomal lipid storage disorder MONDO:0015612 Dent disease MONDO:0006510 DOID:0050699 DOID:447 renal tubular transport disease MONDO:0015613 dentin dysplasia MONDO:0002220 DOID:701 DOID:214 tooth hard tissue disease MONDO:0015614 dermatitis herpetiformis MONDO:0019337 DOID:8505 DOID:8502 autoimmune bullous skin disease MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:0016648 DOID:0070305 DOID:12721 multiple epiphyseal dysplasia MONDO:0015636 dirofilariasis MONDO:0016075 DOID:1082 DOID:1080 filariasis MONDO:0015661 dextrocardia MONDO:0005453 DOID:9565 DOID:1682 congenital heart disease MONDO:0015681 childhood disintegrative disorder MONDO:0000594 DOID:13487 DOID:0060040 pervasive developmental disorder MONDO:0015687 chronic eosinophilic leukemia MONDO:0001014 DOID:0080367 DOID:1036 chronic leukemia MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement MONDO:0015688 DOID:0080165 DOID:0080164 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement MONDO:0015688 DOID:0080166 DOID:0080164 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015698 transient hypogammaglobulinemia of infancy MONDO:0003827 DOID:624 DOID:625 transient hypogammaglobulinemia MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0018947 DOID:0111216 DOID:14717 centronuclear myopathy MONDO:0015742 periventricular leukomalacia MONDO:0006741 DOID:13088 DOID:2034 encephalomalacia MONDO:0015760 T-cell non-Hodgkin lymphoma MONDO:0018908 DOID:0081312 DOID:0060060 non-Hodgkin lymphoma MONDO:0015766 cholera MONDO:0000314 DOID:1498 DOID:0050338 primary bacterial infectious disease MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019701 DOID:2580 DOID:2581 chondrodysplasia punctata MONDO:0015797 UV-sensitive syndrome MONDO:0006025 DOID:0060240 DOID:0050737 autosomal recessive disease MONDO:0015867 vaginal carcinoma MONDO:0001402 DOID:0050918 DOID:119 vaginal cancer MONDO:0015867 vaginal carcinoma MONDO:0004993 DOID:0050918 DOID:305 carcinoma MONDO:0015871 benign breast phyllodes tumor MONDO:0000620 DOID:1631 DOID:0060082 breast benign neoplasm MONDO:0015908 chromomycosis MONDO:0000255 DOID:1562 DOID:0050135 subcutaneous mycosis MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0000009 DOID:0060651 DOID:2218 inherited bleeding disorder, platelet-type MONDO:0015925 interstitial lung disease MONDO:0005275 DOID:3082 DOID:850 lung disorder MONDO:0015926 pneumoconiosis MONDO:0015925 DOID:10316 DOID:3082 interstitial lung disease MONDO:0015942 frontometaphyseal dysplasia MONDO:0018233 DOID:0111785 DOID:0111782 otopalatodigital syndrome spectrum disorder MONDO:0015974 severe combined immunodeficiency MONDO:0015131 DOID:627 DOID:0111962 combined immunodeficiency MONDO:0015977 agammaglobulinemia MONDO:0002211 DOID:2583 DOID:2115 B cell deficiency MONDO:0015986 bilateral renal agenesis MONDO:0018470 DOID:0080200 DOID:14766 renal agenesis MONDO:0015991 citrullinemia MONDO:0004739 DOID:9273 DOID:9267 urea cycle disorder MONDO:0015998 isolated ectopia lentis MONDO:0001176 DOID:0111148 DOID:110 lens disorder MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:0006025 DOID:0080734 DOID:0050737 autosomal recessive disease MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:0020066 DOID:0080734 DOID:13359 Ehlers-Danlos syndrome MONDO:0016003 ehrlichiosis MONDO:0000314 DOID:10242 DOID:0050338 primary bacterial infectious disease MONDO:0016006 Cockayne syndrome MONDO:0006025 DOID:2962 DOID:0050737 autosomal recessive disease MONDO:0016011 fetal alcohol syndrome MONDO:0000408 DOID:0050665 DOID:0050696 fetal alcohol spectrum disorder MONDO:0016011 fetal alcohol syndrome MONDO:0000408 DOID:0050667 DOID:0050696 fetal alcohol spectrum disorder MONDO:0016030 Evans syndrome MONDO:0004680 DOID:8931 DOID:8925 primary thrombocytopenia MONDO:0016033 Cornelia de Lange syndrome MONDO:0002254 DOID:11725 DOID:225 syndromic disease MONDO:0016056 isolated congenital microcephaly MONDO:0001149 DOID:0070297 DOID:10907 microcephaly MONDO:0016064 cleft palate MONDO:0000358 DOID:674 DOID:0050567 orofacial cleft MONDO:0016068 fibrochondrogenesis MONDO:0005516 DOID:0060465 DOID:2256 osteochondrodysplasia MONDO:0016070 hereditary gingival fibromatosis MONDO:0002507 DOID:0060466 DOID:3086 gingival overgrowth MONDO:0016073 syndromic microphthalmia MONDO:0021129 DOID:0080636 DOID:10629 microphthalmia MONDO:0016075 filariasis MONDO:0004664 DOID:1080 DOID:883 helminthiasis MONDO:0016086 osteochondritis of tarsal/metatarsal bone MONDO:0018381 DOID:11760 DOID:8125 osteochondrosis MONDO:0016129 eosinophilic gastroenteritis MONDO:0002269 DOID:4031 DOID:2326 gastroenteritis MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0020380 DOID:0050958 DOID:1441 autosomal dominant cerebellar ataxia MONDO:0016215 spastic quadriplegic cerebral palsy MONDO:0000396 DOID:10970 DOID:0050669 spastic cerebral palsy MONDO:0016216 adult hepatocellular carcinoma MONDO:0007256 DOID:0070328 DOID:684 hepatocellular carcinoma MONDO:0016218 Guillain-Barre syndrome MONDO:0000590 DOID:12842 DOID:0060033 autoimmune disorder of peripheral nervous system MONDO:0016222 spindle cell hemangioma MONDO:0006500 DOID:496 DOID:255 hemangioma MONDO:0016227 hereditary episodic ataxia MONDO:0100309 DOID:963 DOID:0050951 hereditary ataxia MONDO:0016241 alternating hemiplegia of childhood MONDO:0001170 DOID:0050635 DOID:10969 hemiplegia MONDO:0016242 hemoglobin C disease MONDO:0019050 DOID:2859 DOID:2860 inherited hemoglobinopathy MONDO:0016243 hemoglobin E disease MONDO:0019050 DOID:5379 DOID:2860 inherited hemoglobinopathy MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0003832 DOID:0080301 DOID:626 complement deficiency MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005210 DOID:5289 DOID:5165 uterine corpus sarcoma MONDO:0016264 autoimmune hepatitis MONDO:0000588 DOID:2048 DOID:0060031 autoimmune disorder of gastrointestinal tract MONDO:0016293 congenital stationary night blindness MONDO:0004588 DOID:8498 DOID:8499 night blindness MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0019245 DOID:14503 DOID:9455 lysosomal lipid storage disorder MONDO:0016296 holoprosencephaly MONDO:0002254 DOID:4621 DOID:225 syndromic disease MONDO:0016296 holoprosencephaly MONDO:0002320 DOID:4621 DOID:2490 congenital nervous system disorder MONDO:0016344 hydranencephaly MONDO:0000819 DOID:4626 DOID:0060668 anencephaly MONDO:0016358 limited cutaneous systemic sclerosis MONDO:0005100 DOID:1577 DOID:418 systemic sclerosis MONDO:0016372 glossopharyngeal neuralgia MONDO:0002639 DOID:14423 DOID:3418 glossopharyngeal nerve disorder MONDO:0016383 nephrogenic diabetes insipidus MONDO:0004782 DOID:12387 DOID:9409 diabetes insipidus MONDO:0016396 pontocerebellar hypoplasia type 1 MONDO:0020135 DOID:0112322 DOID:0060264 pontocerebellar hypoplasia MONDO:0016426 fusariosis MONDO:0002312 DOID:0050289 DOID:2473 opportunistic mycosis MONDO:0016453 foodborne botulism MONDO:0005498 DOID:0050352 DOID:11976 botulism MONDO:0016466 asbestosis MONDO:0015926 DOID:10320 DOID:10316 pneumoconiosis MONDO:0016474 drug-induced lupus erythematosus MONDO:0004670 DOID:0040093 DOID:8857 lupus erythematosus MONDO:0016483 intracranial berry aneurysm MONDO:0005291 DOID:0060228 DOID:10941 brain aneurysm MONDO:0016484 Usher syndrome type 2 MONDO:0019501 DOID:0110827 DOID:0050439 Usher syndrome MONDO:0016485 Usher syndrome type 3 MONDO:0019501 DOID:0110828 DOID:0050439 Usher syndrome MONDO:0016512 Kabuki syndrome MONDO:0002254 DOID:0060473 DOID:225 syndromic disease MONDO:0016516 Kenny-Caffey syndrome MONDO:0002254 DOID:0080724 DOID:225 syndromic disease MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0019287 DOID:14793 DOID:2121 ectodermal dysplasia syndrome MONDO:0016537 lymphoproliferative syndrome MONDO:0003778 DOID:0060704 DOID:612 inborn error of immunity MONDO:0016558 familial congenital mirror movements MONDO:0005395 DOID:0111153 DOID:480 movement disorder MONDO:0016566 loiasis MONDO:0016075 DOID:13523 DOID:1080 filariasis MONDO:0016567 locked-in syndrome MONDO:0005071 DOID:12697 DOID:863 nervous system disorder MONDO:0016575 primary ciliary dyskinesia MONDO:0005308 DOID:9562 DOID:0060340 ciliopathy MONDO:0016586 systemic mastocytosis MONDO:0007950 DOID:349 DOID:350 mastocytosis MONDO:0016587 arrhythmogenic right ventricular cardiomyopathy MONDO:0000591 DOID:0050431 DOID:0060036 intrinsic cardiomyopathy MONDO:0016595 inhalational anthrax MONDO:0005119 DOID:0050160 DOID:7427 anthrax infection MONDO:0016612 X-linked cerebellar ataxia MONDO:0000425 DOID:0050953 DOID:0050735 X-linked disease MONDO:0016620 primary hypertrophic osteoarthropathy MONDO:0002254 DOID:14283 DOID:225 syndromic disease MONDO:0016644 logopenic progressive aphasia MONDO:0019806 DOID:0081389 DOID:0081388 primary progressive aphasia MONDO:0016648 multiple epiphyseal dysplasia MONDO:0005516 DOID:12721 DOID:2256 osteochondrodysplasia MONDO:0016649 Warburg micro syndrome MONDO:0006025 DOID:0060237 DOID:0050737 autosomal recessive disease MONDO:0016660 autosomal recessive primary microcephaly MONDO:0006025 DOID:0070296 DOID:0050737 autosomal recessive disease MONDO:0016660 autosomal recessive primary microcephaly MONDO:0016056 DOID:0070296 DOID:0070297 isolated congenital microcephaly MONDO:0016675 distal arthrogryposis type 10 MONDO:0019942 DOID:0111593 DOID:0050646 distal arthrogryposis MONDO:0016692 pilomyxoid astrocytoma MONDO:0016691 DOID:4845 DOID:4851 pilocytic astrocytoma MONDO:0016693 subependymal giant cell astrocytoma MONDO:0007667 DOID:5077 DOID:4843 subependymoma MONDO:0016702 oligoastrocytoma MONDO:0003268 DOID:7912 DOID:5076 mixed glioma MONDO:0016705 angiocentric glioma MONDO:0021637 DOID:0081261 DOID:0080829 low grade glioma MONDO:0016706 chordoid glioma of the third ventricle MONDO:0002682 DOID:3774 DOID:3541 cerebral ventricle cancer MONDO:0016710 medulloblastoma with extensive nodularity MONDO:0007959 DOID:3873 DOID:0050902 medulloblastoma MONDO:0016718 choroid plexus carcinoma MONDO:0002681 DOID:5648 DOID:3540 choroid plexus cancer MONDO:0016718 choroid plexus carcinoma MONDO:0004993 DOID:5648 DOID:305 carcinoma MONDO:0016722 pineoblastoma MONDO:0003249 DOID:1664 DOID:5032 pineal gland cancer MONDO:0016723 pineocytoma MONDO:0000627 DOID:0081248 DOID:0060089 benign endocrine neoplasm MONDO:0016755 neurofibroma MONDO:0002547 DOID:962 DOID:3193 nerve sheath neoplasm MONDO:0016757 malignant triton tumor MONDO:0017827 DOID:6707 DOID:5940 malignant peripheral nerve sheath tumor MONDO:0016759 pontocerebellar hypoplasia type 2 MONDO:0020135 DOID:0112328 DOID:0060264 pontocerebellar hypoplasia MONDO:0016761 spondyloepiphyseal dysplasia MONDO:0005516 DOID:0112280 DOID:2256 osteochondrodysplasia MONDO:0016817 Meier-Gorlin syndrome MONDO:0002254 DOID:0060306 DOID:225 syndromic disease MONDO:0016820 Moyamoya disease MONDO:0006693 DOID:13099 DOID:3527 cerebral arterial disease MONDO:0016974 thymoma type B MONDO:0006456 DOID:3282 DOID:3275 thymoma MONDO:0016975 thymoma type AB MONDO:0006456 DOID:3280 DOID:3275 thymoma MONDO:0016982 angiosarcoma MONDO:0002095 DOID:0001816 DOID:175 vascular cancer MONDO:0016989 Fuchs heterochromic iridocyclitis MONDO:0002254 DOID:9375 DOID:225 syndromic disease MONDO:0017042 thanatophoric dysplasia MONDO:0005516 DOID:13481 DOID:2256 osteochondrodysplasia MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0002254 DOID:0050763 DOID:225 syndromic disease MONDO:0017124 noma MONDO:0004848 DOID:9672 DOID:9673 ulcerative stomatitis MONDO:0017137 onchocerciasis MONDO:0016075 DOID:11678 DOID:1080 filariasis MONDO:0017138 Opitz G/BBB syndrome MONDO:0002254 DOID:0080697 DOID:225 syndromic disease MONDO:0017194 Blount disease MONDO:0005516 DOID:14798 DOID:2256 osteochondrodysplasia MONDO:0017195 Bruck syndrome MONDO:0002254 DOID:0060231 DOID:225 syndromic disease MONDO:0017202 acute endophthalmitis MONDO:0004863 DOID:11752 DOID:9724 purulent endophthalmitis MONDO:0017203 chronic endophthalmitis MONDO:0004863 DOID:10697 DOID:9724 purulent endophthalmitis MONDO:0017210 infectious anterior uveitis MONDO:0004773 DOID:9389 DOID:9383 iridocyclitis MONDO:0017215 calciphylaxis MONDO:0002123 DOID:4734 DOID:182 calcinosis MONDO:0017236 rapidly progressive glomerulonephritis MONDO:0002462 DOID:4776 DOID:2921 glomerulonephritis MONDO:0017255 panuveitis MONDO:0020283 DOID:12030 DOID:13141 uveitis MONDO:0017278 autoimmune polyendocrinopathy MONDO:0000569 DOID:14040 DOID:0060005 autoimmune disorder of endocrine system MONDO:0017279 young-onset Parkinson disease MONDO:0005180 DOID:0060894 DOID:14330 Parkinson disease MONDO:0017282 alveolar echinococcosis MONDO:0005738 DOID:12148 DOID:1496 echinococcosis MONDO:0017287 IgG4-related disease MONDO:0007179 DOID:0080356 DOID:417 autoimmune disease MONDO:0017312 Perrault syndrome MONDO:0006025 DOID:0050857 DOID:0050737 autosomal recessive disease MONDO:0017324 autosomal recessive hypophosphatemic rickets MONDO:0006025 DOID:0050949 DOID:0050737 autosomal recessive disease MONDO:0017376 reactive arthritis MONDO:0005578 DOID:6196 DOID:848 arthritic joint disease MONDO:0017386 pleomorphic rhabdomyosarcoma MONDO:0005212 DOID:3250 DOID:3247 rhabdomyosarcoma MONDO:0017416 postpoliomyelitis syndrome MONDO:0017373 DOID:4952 DOID:4953 poliomyelitis MONDO:0017569 de Barsy syndrome MONDO:0006025 DOID:0070143 DOID:0050737 autosomal recessive disease MONDO:0017570 leukocyte adhesion deficiency MONDO:0006025 DOID:6612 DOID:0050737 autosomal recessive disease MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0002254 DOID:0060229 DOID:225 syndromic disease MONDO:0017582 pituitary adenocarcinoma MONDO:0002109 DOID:4916 DOID:1785 pituitary cancer MONDO:0017590 carcinoma of the ampulla of vater MONDO:0000919 DOID:4932 DOID:10020 ampulla of vater cancer MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system MONDO:0018905 DOID:0081313 DOID:0050745 diffuse large B-cell lymphoma MONDO:0017600 hairy cell leukemia variant MONDO:0018935 DOID:713 DOID:285 hairy cell leukemia MONDO:0017719 gangliosidosis MONDO:0019255 DOID:2368 DOID:1927 sphingolipidosis MONDO:0017720 GM2 gangliosidosis MONDO:0017719 DOID:3321 DOID:2368 gangliosidosis MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0002254 DOID:0112177 DOID:225 syndromic disease MONDO:0017774 hypobetalipoproteinemia MONDO:0001822 DOID:1390 DOID:1387 hypolipoproteinemia MONDO:0017775 melioidosis MONDO:0000314 DOID:5052 DOID:0050338 primary bacterial infectious disease MONDO:0017776 nocardiosis MONDO:0000316 DOID:2312 DOID:0050340 opportunistic bacterial infectious disease MONDO:0017814 primary bone lymphoma MONDO:0002129 DOID:6759 DOID:184 bone cancer MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0002547 DOID:5940 DOID:3193 nerve sheath neoplasm MONDO:0017838 sclerosteosis MONDO:0002185 DOID:0060251 DOID:205 hyperostosis MONDO:0017842 Senior-Loken syndrome MONDO:0006025 DOID:0050576 DOID:0050737 autosomal recessive disease MONDO:0017844 Sezary syndrome MONDO:0000607 DOID:8541 DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0017845 spastic ataxia MONDO:0100309 DOID:0050952 DOID:0050951 hereditary ataxia MONDO:0017853 hypersensitivity pneumonitis MONDO:0015925 DOID:841 DOID:3082 interstitial lung disease MONDO:0017879 hantavirus pulmonary syndrome MONDO:0005275 DOID:14472 DOID:850 lung disorder MONDO:0017886 MIT family translocation renal cell carcinoma MONDO:0005086 DOID:0081413 DOID:4450 renal cell carcinoma MONDO:0017894 acute myeloid leukemia with CEBPA somatic mutations MONDO:0018874 DOID:0081095 DOID:9119 acute myeloid leukemia MONDO:0017906 amyloidosis cutis dyschromia MONDO:0015301 DOID:0080932 DOID:0050639 primary cutaneous amyloidosis MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0002459 DOID:6688 DOID:2916 type IV hypersensitivity disease MONDO:0017987 syringomyelia MONDO:0002545 DOID:327 DOID:319 spinal cord disorder MONDO:0017990 catecholaminergic polymorphic ventricular tachycardia MONDO:0000992 DOID:0060674 DOID:10273 heart conduction disease MONDO:0018018 wild type ATTR amyloidosis MONDO:0019065 DOID:0080937 DOID:9120 amyloidosis MONDO:0018037 hyper-IgE syndrome MONDO:0002468 DOID:0080545 DOID:2959 hyperimmunoglobulin syndrome MONDO:0018039 selective IgM deficiency MONDO:0001342 DOID:0050222 DOID:11702 dysgammaglobulinemia MONDO:0018054 familial atrial fibrillation MONDO:0004981 DOID:0050650 DOID:0060224 atrial fibrillation MONDO:0018055 pediatric hepatocellular carcinoma MONDO:0007256 DOID:0070322 DOID:684 hepatocellular carcinoma MONDO:0018059 meningococcal meningitis MONDO:0006670 DOID:0080176 DOID:9470 bacterial meningitis MONDO:0018063 nodular non-suppurative panniculitis MONDO:0006591 DOID:1525 DOID:1526 panniculitis MONDO:0018076 tuberculosis MONDO:0000314 DOID:399 DOID:0050338 primary bacterial infectious disease MONDO:0018077 tularemia MONDO:0000314 DOID:2123 DOID:0050338 primary bacterial infectious disease MONDO:0018089 double outlet right ventricle MONDO:0002070 DOID:6406 DOID:1657 ventricular septal defect MONDO:0018094 Waardenburg syndrome MONDO:0000426 DOID:9258 DOID:0050736 autosomal dominant disease MONDO:0018094 Waardenburg syndrome MONDO:0002254 DOID:9258 DOID:225 syndromic disease MONDO:0018096 Weill-Marchesani syndrome MONDO:0000429 DOID:0050475 DOID:0050739 autosomal genetic disease MONDO:0018096 Weill-Marchesani syndrome MONDO:0002254 DOID:0050475 DOID:225 syndromic disease MONDO:0018100 familial primary hypomagnesemia MONDO:0004689 DOID:0060879 DOID:896 inborn metal metabolism disorder MONDO:0018102 corneal dystrophy MONDO:0000942 DOID:2566 DOID:10124 corneal disorder MONDO:0018105 Wolfram syndrome MONDO:0002254 DOID:10632 DOID:225 syndromic disease MONDO:0018149 GM1 gangliosidosis MONDO:0017719 DOID:3322 DOID:2368 gangliosidosis MONDO:0018150 Gaucher disease MONDO:0019255 DOID:1926 DOID:1927 sphingolipidosis MONDO:0018153 Erdheim-Chester disease MONDO:0015531 DOID:4329 DOID:4330 non-Langerhans cell histiocytosis MONDO:0018160 hereditary retinoblastoma MONDO:0008380 DOID:4648 DOID:768 retinoblastoma MONDO:0018166 oral submucous fibrosis MONDO:0006858 DOID:5773 DOID:403 mouth disorder MONDO:0018171 malignant germ cell tumor of ovary MONDO:0011366 DOID:2155 DOID:2156 ovarian germ cell tumor MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0000315 DOID:9063 DOID:0050339 commensal bacterial infectious disease MONDO:0018184 gastric linitis plastica MONDO:0005017 DOID:4023 DOID:6217 diffuse gastric adenocarcinoma MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0015364 DOID:0070162 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0003659 DOID:0070324 DOID:5823 pediatric lymphoma MONDO:0018234 dysostosis MONDO:0005497 DOID:1934 DOID:0080006 bone development disease MONDO:0018237 acrofacial dysostosis MONDO:0018234 DOID:0060379 DOID:1934 dysostosis MONDO:0018264 oculocutaneous albinism type 6 MONDO:0018910 DOID:0080614 DOID:0050632 oculocutaneous albinism MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0012817 DOID:4232 DOID:3369 Ewing sarcoma MONDO:0018274 GM3 synthase deficiency MONDO:0006025 DOID:0060470 DOID:0050737 autosomal recessive disease MONDO:0018276 muscular dystrophy-dystroglycanopathy MONDO:0019950 DOID:0112374 DOID:0050557 congenital muscular dystrophy MONDO:0018301 interstitial cystitis MONDO:0006030 DOID:1678 DOID:1680 chronic cystitis MONDO:0018305 chronic granulomatous disease MONDO:0005910 DOID:3265 DOID:3262 phagocyte bactericidal dysfunction MONDO:0018310 Langerhans cell histiocytosis MONDO:0002637 DOID:2571 DOID:3405 histiocytosis MONDO:0018312 histoplasmosis MONDO:0000308 DOID:1731 DOID:0050292 primary systemic mycosis MONDO:0018352 squamous cell carcinoma of penis MONDO:0005096 DOID:5518 DOID:1749 squamous cell carcinoma MONDO:0018352 squamous cell carcinoma of penis MONDO:0006360 DOID:5518 DOID:3449 penile carcinoma MONDO:0018364 malignant epithelial tumor of ovary MONDO:0002229 DOID:2151 DOID:2152 ovarian epithelial tumor MONDO:0018381 osteochondrosis MONDO:0005380 DOID:8125 DOID:0080008 osteonecrosis MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0001566 DOID:0060699 DOID:12678 hypercalcemia disease MONDO:0018458 familial hypocalciuric hypercalcemia MONDO:0019052 DOID:0060699 DOID:655 inborn errors of metabolism MONDO:0018465 insulin autoimmune syndrome MONDO:0000569 DOID:0040100 DOID:0060005 autoimmune disorder of endocrine system MONDO:0018473 hyperlipoproteinemia type 3 MONDO:0001336 DOID:3145 DOID:1168 familial hyperlipidemia MONDO:0018477 bilirubin encephalopathy MONDO:0005560 DOID:2382 DOID:936 brain disorder MONDO:0018479 congenital adrenal hyperplasia MONDO:0005523 DOID:0050811 DOID:1701 steroid inherited metabolic disorder MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0003008 DOID:7192 DOID:4455 hereditary renal cell carcinoma MONDO:0018510 small intestine neuroendocrine neoplasm MONDO:0004251 DOID:4434 DOID:7505 small intestine neoplasm MONDO:0018513 squamous cell carcinoma of colon MONDO:0002032 DOID:5519 DOID:1520 colon carcinoma MONDO:0018521 squamous cell carcinoma of pancreas MONDO:0005096 DOID:0080323 DOID:1749 squamous cell carcinoma MONDO:0018523 pancreatic mucinous cystadenoma MONDO:0002809 DOID:7235 DOID:3918 pancreatic cystadenoma MONDO:0018523 pancreatic mucinous cystadenoma MONDO:0002809 DOID:7735 DOID:3918 pancreatic cystadenoma MONDO:0018525 solid pseudopapillary carcinoma of pancreas MONDO:0005192 DOID:6827 DOID:4905 exocrine pancreatic carcinoma MONDO:0018543 autosomal dominant hypocalcemia MONDO:0000426 DOID:0090109 DOID:0050736 autosomal dominant disease MONDO:0018544 adrenoleukodystrophy MONDO:0019046 DOID:10588 DOID:10579 leukodystrophy MONDO:0018555 hypogonadotropic hypogonadism MONDO:0002146 DOID:0090070 DOID:1924 hypogonadism MONDO:0018589 AApoAIV amyloidosis MONDO:0019065 DOID:0080927 DOID:9120 amyloidosis MONDO:0018590 ABeta2M amyloidosis MONDO:0019065 DOID:0080928 DOID:9120 amyloidosis MONDO:0018612 congenital hypothyroidism MONDO:0005420 DOID:0050328 DOID:1459 hypothyroidism MONDO:0018613 AH amyloidosis MONDO:0019065 DOID:0080934 DOID:9120 amyloidosis MONDO:0018638 pseudohypoaldosteronism MONDO:0006510 DOID:4479 DOID:447 renal tubular transport disease MONDO:0018646 sclerosing cholangitis MONDO:0004789 DOID:14268 DOID:9446 cholangitis MONDO:0018667 pleural empyema MONDO:0002037 DOID:3798 DOID:1532 pleural disorder MONDO:0018689 plasma cell leukemia MONDO:0004959 DOID:9513 DOID:6536 plasma cell neoplasm MONDO:0018690 Holmes-Adie syndrome MONDO:0002254 DOID:11549 DOID:225 syndromic disease MONDO:0018695 avian influenza MONDO:0005812 DOID:4492 DOID:8469 influenza MONDO:0018734 verrucous hemangioma MONDO:0003110 DOID:470 DOID:471 skin hemangioma MONDO:0018747 acquired epidermolysis bullosa MONDO:0006541 DOID:4313 DOID:2730 epidermolysis bullosa MONDO:0018769 isosporiasis MONDO:0005707 DOID:2112 DOID:2113 coccidiosis MONDO:0018772 Joubert syndrome MONDO:0005308 DOID:0050777 DOID:0060340 ciliopathy MONDO:0018778 intermediate Charcot-Marie-Tooth disease MONDO:0015626 DOID:0050543 DOID:10595 Charcot-Marie-Tooth disease MONDO:0018800 Kallmann syndrome MONDO:0018555 DOID:3614 DOID:0090070 hypogonadotropic hypogonadism MONDO:0018805 bile duct cyst MONDO:0002887 DOID:899 DOID:4138 bile duct disorder MONDO:0018808 Caroli syndrome MONDO:0002254 DOID:0081394 DOID:225 syndromic disease MONDO:0018824 pyoderma gangrenosum MONDO:0002922 DOID:8553 DOID:4223 pyoderma MONDO:0018838 lissencephaly spectrum disorders MONDO:0002320 DOID:0050453 DOID:2490 congenital nervous system disorder MONDO:0018841 congenital bile acid synthesis defect MONDO:0005523 DOID:0050674 DOID:1701 steroid inherited metabolic disorder MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0005440 DOID:7232 DOID:3308 embryonal carcinoma MONDO:0018849 dentinogenesis imperfecta MONDO:0006999 DOID:4154 DOID:1091 tooth disorder MONDO:0018852 achromatopsia MONDO:0001703 DOID:13911 DOID:13399 color vision disorder MONDO:0018868 metachromatic leukodystrophy MONDO:0019255 DOID:10581 DOID:1927 sphingolipidosis MONDO:0018874 acute myeloid leukemia MONDO:0004643 DOID:9119 DOID:8692 myeloid leukemia MONDO:0018875 Li-Fraumeni syndrome MONDO:0000426 DOID:3012 DOID:0050736 autosomal dominant disease MONDO:0018878 branchiootic syndrome MONDO:0002254 DOID:0060232 DOID:225 syndromic disease MONDO:0018882 vasculitis MONDO:0005385 DOID:865 DOID:178 vascular disorder MONDO:0018889 hyaline body myopathy MONDO:0019952 DOID:0111267 DOID:0081337 congenital myopathy MONDO:0018896 thrombotic thrombocytopenic purpura MONDO:0002305 DOID:10772 DOID:2452 thrombophilia MONDO:0018901 left ventricular noncompaction MONDO:0000591 DOID:0060480 DOID:0060036 intrinsic cardiomyopathy MONDO:0018902 hepatocellular adenoma MONDO:0004972 DOID:0050868 DOID:657 adenoma MONDO:0018902 hepatocellular adenoma MONDO:0024477 DOID:0050868 DOID:916 liver and intrahepatic bile duct neoplasm MONDO:0018903 sarcocystosis MONDO:0005707 DOID:9640 DOID:2113 coccidiosis MONDO:0018907 craniopharyngioma MONDO:0000628 DOID:3840 DOID:0060090 central nervous system organ benign neoplasm MONDO:0018908 non-Hodgkin lymphoma MONDO:0005062 DOID:0060060 DOID:0060058 lymphoma MONDO:0018919 McCune-Albright syndrome MONDO:0002254 DOID:1858 DOID:225 syndromic disease MONDO:0018921 Meckel syndrome MONDO:0005308 DOID:0050778 DOID:0060340 ciliopathy MONDO:0018935 hairy cell leukemia MONDO:0004948 DOID:285 DOID:1040 B-cell chronic lymphocytic leukemia MONDO:0018936 osteoblastoma MONDO:0000631 DOID:0060098 DOID:0060094 bone benign neoplasm MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0019249 DOID:12801 DOID:12798 mucopolysaccharidosis MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0019249 DOID:12804 DOID:12798 mucopolysaccharidosis MONDO:0018940 congenital myasthenic syndrome MONDO:0020124 DOID:3635 DOID:439 neuromuscular junction disease MONDO:0018944 gestational trophoblastic neoplasm MONDO:0002872 DOID:3590 DOID:4085 trophoblastic neoplasm MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0016987 DOID:0112107 DOID:0050765 neuroacanthocytosis MONDO:0018949 distal myopathy MONDO:0020121 DOID:11720 DOID:9884 muscular dystrophy MONDO:0018953 parietal foramina MONDO:0018075 DOID:0060285 DOID:0080074 neural tube defect MONDO:0018954 Loeys-Dietz syndrome MONDO:0000426 DOID:0050466 DOID:0050736 autosomal dominant disease MONDO:0018954 Loeys-Dietz syndrome MONDO:0002254 DOID:0050466 DOID:225 syndromic disease MONDO:0018961 familial melanoma MONDO:0005105 DOID:6846 DOID:1909 melanoma MONDO:0018965 Alport syndrome MONDO:0002254 DOID:10983 DOID:225 syndromic disease MONDO:0018975 neurofibromatosis type 1 MONDO:0021061 DOID:0111253 DOID:8712 neurofibromatosis MONDO:0018983 Tolosa-Hunt syndrome MONDO:0001584 DOID:1278 DOID:1279 ocular motility disease MONDO:0018984 Oroya fever MONDO:0005664 DOID:0050398 DOID:11102 bartonellosis MONDO:0018993 Charcot-Marie-Tooth disease type 2 MONDO:0015626 DOID:0050539 DOID:10595 Charcot-Marie-Tooth disease MONDO:0018994 Charcot-Marie-Tooth disease type X MONDO:0015626 DOID:0050542 DOID:10595 Charcot-Marie-Tooth disease MONDO:0018995 Charcot-Marie-Tooth disease type 4 MONDO:0015626 DOID:0050541 DOID:10595 Charcot-Marie-Tooth disease MONDO:0019004 kidney Wilms tumor MONDO:0002367 DOID:2154 DOID:263 kidney cancer MONDO:0019005 nephronophthisis MONDO:0006025 DOID:12712 DOID:0050737 autosomal recessive disease MONDO:0019011 Charcot-Marie-Tooth disease type 1 MONDO:0015626 DOID:0050538 DOID:10595 Charcot-Marie-Tooth disease MONDO:0019019 osteogenesis imperfecta MONDO:0005516 DOID:12347 DOID:2256 osteochondrodysplasia MONDO:0019023 cutaneous mastocytosis MONDO:0007950 DOID:3663 DOID:350 mastocytosis MONDO:0019024 mast cell sarcoma MONDO:0005089 DOID:355 DOID:1115 sarcoma MONDO:0019025 extracutaneous mastocytoma MONDO:0016586 DOID:4659 DOID:349 systemic mastocytosis MONDO:0019037 progressive supranuclear palsy MONDO:0005395 DOID:678 DOID:480 movement disorder MONDO:0019052 inborn errors of metabolism MONDO:0003847 DOID:655 DOID:630 hereditary disease MONDO:0019052 inborn errors of metabolism MONDO:0005066 DOID:655 DOID:0014667 metabolic disease MONDO:0019053 peroxisomal disease MONDO:0019052 DOID:906 DOID:655 inborn errors of metabolism MONDO:0019064 hereditary spastic paraplegia MONDO:0003757 DOID:2476 DOID:607 paraplegia MONDO:0019071 pure hair and nail ectodermal dysplasia MONDO:0019287 DOID:0111655 DOID:2121 ectodermal dysplasia syndrome MONDO:0019072 intrahepatic cholestasis MONDO:0001751 DOID:1852 DOID:13580 cholestasis MONDO:0019086 carcinoma of esophagus MONDO:0007576 DOID:1107 DOID:5041 esophageal cancer MONDO:0019095 plague MONDO:0000314 DOID:3482 DOID:0050338 primary bacterial infectious disease MONDO:0019121 pneumocystosis MONDO:0002312 DOID:11339 DOID:2473 opportunistic mycosis MONDO:0019125 relapsing polychondritis MONDO:0002342 DOID:2556 DOID:2557 chondromalacia MONDO:0019134 central neurocytoma MONDO:0002682 DOID:14174 DOID:3541 cerebral ventricle cancer MONDO:0019136 Zygomycosis MONDO:0002312 DOID:8485 DOID:2473 opportunistic mycosis MONDO:0019143 angiostrongyliasis MONDO:0004664 DOID:0050256 DOID:883 helminthiasis MONDO:0019144 hereditary thrombophilia due to congenital protein S deficiency MONDO:0002304 DOID:0111905 DOID:2451 protein S deficiency MONDO:0019147 myiasis MONDO:0002875 DOID:11080 DOID:4110 parasitic ectoparasitic infectious disease MONDO:0019148 Wolman disease MONDO:0800449 DOID:14497 DOID:0080217 lysosomal acid lipase deficiency MONDO:0019149 cholesteryl ester storage disease MONDO:0800449 DOID:14502 DOID:0080217 lysosomal acid lipase deficiency MONDO:0019167 immunoglobulin A vasculitis MONDO:0006794 DOID:11123 DOID:9809 hypersensitivity vasculitis MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0019214 DOID:3649 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0019172 aniridia MONDO:0002289 DOID:12271 DOID:240 iris disorder MONDO:0019173 rabies MONDO:0005108 DOID:11260 DOID:934 viral infectious disease MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0000426 DOID:1270 DOID:0050736 autosomal dominant disease MONDO:0019181 non-syndromic X-linked intellectual disability MONDO:0000509 DOID:0050776 DOID:0050889 non-syndromic intellectual disability MONDO:0019186 Q fever MONDO:0000314 DOID:11100 DOID:0050338 primary bacterial infectious disease MONDO:0019193 acquired generalized lipodystrophy MONDO:0027766 DOID:0080300 DOID:0080298 generalized lipodystrophy MONDO:0019198 sympathetic ophthalmia MONDO:0017255 DOID:12029 DOID:12030 panuveitis MONDO:0019203 acute interstitial pneumonia MONDO:0002429 DOID:2800 DOID:2797 idiopathic interstitial pneumonia MONDO:0019214 inborn carbohydrate metabolic disorder MONDO:0019052 DOID:2978 DOID:655 inborn errors of metabolism MONDO:0019220 inborn disorder of cobalamin metabolism and transport MONDO:0005528 DOID:0050731 DOID:0050718 inborn vitamin metabolic disorder MONDO:0019228 inborn disorder of histidine metabolism MONDO:0004736 DOID:9265 DOID:9252 inborn disorder of amino acid metabolism MONDO:0019234 peroxisome biogenesis disorder MONDO:0019053 DOID:0080377 DOID:906 peroxisomal disease MONDO:0019245 lysosomal lipid storage disorder MONDO:0002561 DOID:9455 DOID:3211 lysosomal storage disease MONDO:0019249 mucopolysaccharidosis MONDO:0002561 DOID:12798 DOID:3211 lysosomal storage disease MONDO:0019254 inborn disorder of purine or pyrimidine metabolism MONDO:0019052 DOID:653 DOID:655 inborn errors of metabolism MONDO:0019255 sphingolipidosis MONDO:0019245 DOID:1927 DOID:9455 lysosomal lipid storage disorder MONDO:0019257 hemochromatosis type 2 MONDO:0006507 DOID:0111034 DOID:2352 hereditary hemochromatosis MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0017779 DOID:0112320 DOID:0112317 alpha-N-acetylgalactosaminidase deficiency MONDO:0019280 hypertrichosis MONDO:0002917 DOID:420 DOID:421 disorder of pilosebaceous unit MONDO:0019284 inherited isolated nail anomaly MONDO:0002884 DOID:0080683 DOID:4123 nail disorder MONDO:0019287 ectodermal dysplasia syndrome MONDO:0002254 DOID:2121 DOID:225 syndromic disease MONDO:0019288 skin pigmentation disorder MONDO:0005093 DOID:10123 DOID:37 skin disorder MONDO:0019293 skin vascular disease MONDO:0005093 DOID:9540 DOID:37 skin disorder MONDO:0019297 lymphedema MONDO:0005833 DOID:4977 DOID:75 lymphatic system disorder MONDO:0019315 diffuse cutaneous mastocytosis MONDO:0019023 DOID:3665 DOID:3663 cutaneous mastocytosis MONDO:0019316 maculopapular cutaneous mastocytosis MONDO:0019023 DOID:12309 DOID:3663 cutaneous mastocytosis MONDO:0019324 pemphigus foliaceus MONDO:0006594 DOID:0080850 DOID:9182 pemphigus MONDO:0019337 autoimmune bullous skin disease MONDO:0002406 DOID:8502 DOID:2723 dermatitis MONDO:0019340 scleroderma MONDO:0005554 DOID:419 DOID:1575 rheumatic disorder MONDO:0019342 Seckel syndrome MONDO:0002254 DOID:0050569 DOID:225 syndromic disease MONDO:0019342 Seckel syndrome MONDO:0006025 DOID:0050569 DOID:0050737 autosomal recessive disease MONDO:0019345 shigellosis MONDO:0000314 DOID:12385 DOID:0050338 primary bacterial infectious disease MONDO:0019349 Sotos syndrome MONDO:0002254 DOID:14748 DOID:225 syndromic disease MONDO:0019350 hereditary spherocytosis MONDO:0003689 DOID:12971 DOID:589 familial hemolytic anemia MONDO:0019354 Stickler syndrome MONDO:0002254 DOID:0080046 DOID:225 syndromic disease MONDO:0019359 Rocky mountain spotted fever MONDO:0001195 DOID:0050052 DOID:11104 spotted fever MONDO:0019360 rickettsialpox MONDO:0001195 DOID:11103 DOID:11104 spotted fever MONDO:0019362 epidemic louse-borne typhus MONDO:0001246 DOID:0050480 DOID:11256 typhus MONDO:0019365 scrub typhus MONDO:0001246 DOID:13371 DOID:11256 typhus MONDO:0019373 desmoplastic small round cell tumor MONDO:0006974 DOID:6785 DOID:3098 small cell sarcoma MONDO:0019391 Fanconi anemia MONDO:0001713 DOID:13636 DOID:1342 inherited aplastic anemia MONDO:0019402 beta thalassemia MONDO:0000984 DOID:12241 DOID:10241 thalassemia MONDO:0019403 congenital dyserythropoietic anemia MONDO:0003689 DOID:1338 DOID:589 familial hemolytic anemia MONDO:0019404 perineurioma MONDO:0002547 DOID:4697 DOID:3193 nerve sheath neoplasm MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0000426 DOID:0111673 DOID:0050736 autosomal dominant disease MONDO:0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type MONDO:0005497 DOID:0111673 DOID:0080006 bone development disease MONDO:0019409 idiopathic juvenile osteoporosis MONDO:0005298 DOID:12559 DOID:11476 osteoporosis MONDO:0019438 AL amyloidosis MONDO:0019065 DOID:0080933 DOID:9120 amyloidosis MONDO:0019439 AA amyloidosis MONDO:0019065 DOID:0080936 DOID:9120 amyloidosis MONDO:0019443 dextro-looped transposition of the great arteries MONDO:0005453 DOID:0060770 DOID:1682 congenital heart disease MONDO:0019451 chronic neutrophilic leukemia MONDO:0001014 DOID:0080187 DOID:1036 chronic leukemia MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0001023 DOID:0081041 DOID:1039 prolymphocytic leukemia MONDO:0019462 splenic marginal zone lymphoma MONDO:0017604 DOID:0050750 DOID:0050748 marginal zone lymphoma MONDO:0019465 nodal marginal zone B-cell lymphoma MONDO:0017604 DOID:0080211 DOID:0050748 marginal zone lymphoma MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0001023 DOID:0081042 DOID:1039 prolymphocytic leukemia MONDO:0019479 histiocytic sarcoma MONDO:0006247 DOID:0080915 DOID:5621 histiocytic and dendritic cell neoplasm MONDO:0019483 methotrexate-associated lymphoproliferative disorders MONDO:0005062 DOID:5821 DOID:0060058 lymphoma MONDO:0019490 progressive familial heart block MONDO:0000992 DOID:0111073 DOID:10273 heart conduction disease MONDO:0019498 tungiasis MONDO:0002875 DOID:0050266 DOID:4110 parasitic ectoparasitic infectious disease MONDO:0019499 Turner syndrome MONDO:0001967 DOID:3491 DOID:14447 gonadal dysgenesis MONDO:0019501 Usher syndrome MONDO:0002254 DOID:0050439 DOID:225 syndromic disease MONDO:0019501 Usher syndrome MONDO:0006025 DOID:0050439 DOID:0050737 autosomal recessive disease MONDO:0019503 anterior segment dysgenesis MONDO:0005328 DOID:0060648 DOID:5614 eye disorder MONDO:0019507 amelogenesis imperfecta MONDO:0004038 DOID:2187 DOID:693 dental enamel hypoplasia MONDO:0019514 hepatic veno-occlusive disease MONDO:0002405 DOID:0080177 DOID:272 hepatic vascular disorder MONDO:0019516 exudative vitreoretinopathy MONDO:0002311 DOID:0050535 DOID:2462 retinal vascular disorder MONDO:0019537 hemoglobin D disease MONDO:0019050 DOID:5378 DOID:2860 inherited hemoglobinopathy MONDO:0019562 localized scleroderma MONDO:0019340 DOID:8472 DOID:419 scleroderma MONDO:0019563 CREST syndrome MONDO:0002254 DOID:0060218 DOID:225 syndromic disease MONDO:0019569 Cockayne syndrome type 1 MONDO:0016006 DOID:0080907 DOID:2962 Cockayne syndrome MONDO:0019570 Cockayne syndrome type 2 MONDO:0016006 DOID:0080908 DOID:2962 Cockayne syndrome MONDO:0019571 autosomal dominant cutis laxa MONDO:0000426 DOID:0070142 DOID:0050736 autosomal dominant disease MONDO:0019572 autosomal recessive cutis laxa type 1 MONDO:0006025 DOID:0070144 DOID:0050737 autosomal recessive disease MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:0019497 DOID:0050566 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:0000426 DOID:0050564 DOID:0050736 autosomal dominant disease MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:0019497 DOID:0050564 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0019588 hearing loss, autosomal recessive MONDO:0006025 DOID:0050565 DOID:0050737 autosomal recessive disease MONDO:0019588 hearing loss, autosomal recessive MONDO:0019497 DOID:0050565 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0019609 Zellweger spectrum disorders MONDO:0019234 DOID:905 DOID:0080377 peroxisome biogenesis disorder MONDO:0019613 non-functioning pituitary adenoma MONDO:0006373 DOID:5715 DOID:3829 pituitary gland adenoma MONDO:0019622 non-specific interstitial pneumonia MONDO:0002429 DOID:2801 DOID:2797 idiopathic interstitial pneumonia MONDO:0019623 hereditary angioedema MONDO:0010481 DOID:14735 DOID:1558 angioedema MONDO:0019624 acquired angioedema MONDO:0010481 DOID:0080941 DOID:1558 angioedema MONDO:0019629 sclerocornea MONDO:0000942 DOID:0060252 DOID:10124 corneal disorder MONDO:0019631 persistent hyperplastic primary vitreous MONDO:0004860 DOID:0060282 DOID:9720 vitreous disorder MONDO:0019632 Lyme disease MONDO:0000314 DOID:11729 DOID:0050338 primary bacterial infectious disease MONDO:0019633 relapsing fever MONDO:0000314 DOID:13034 DOID:0050338 primary bacterial infectious disease MONDO:0019637 renal hypoplasia MONDO:0005240 DOID:0080204 DOID:557 kidney disorder MONDO:0019648 achondrogenesis MONDO:0005516 DOID:0080043 DOID:2256 osteochondrodysplasia MONDO:0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type MONDO:0100510 DOID:0050812 DOID:0080027 spondyloepimetaphyseal dysplasia MONDO:0019667 spondyloepiphyseal dysplasia tarda MONDO:0016761 DOID:0112284 DOID:0112280 spondyloepiphyseal dysplasia MONDO:0019675 spondyloepimetaphyseal dysplasia with joint laxity MONDO:0100510 DOID:0112197 DOID:0080027 spondyloepimetaphyseal dysplasia MONDO:0019696 acromesomelic dysplasia MONDO:0005516 DOID:0080049 DOID:2256 osteochondrodysplasia MONDO:0019754 multicentric Castleman disease MONDO:0015564 DOID:0111152 DOID:0111157 Castleman disease MONDO:0019771 oromandibular dystonia MONDO:0000477 DOID:0050843 DOID:0050836 focal dystonia MONDO:0019790 neuroleptic malignant syndrome MONDO:0005071 DOID:14464 DOID:863 nervous system disorder MONDO:0019797 acrodysostosis MONDO:0018234 DOID:14669 DOID:1934 dysostosis MONDO:0019803 angioma serpiginosum MONDO:0003110 DOID:4028 DOID:471 skin hemangioma MONDO:0019804 congenital tracheomalacia MONDO:0002567 DOID:0060313 DOID:3225 tracheal disorder MONDO:0019805 twin to twin transfusion syndrome MONDO:0001240 DOID:13576 DOID:11244 neonatal anemia MONDO:0019933 acromegaly MONDO:0006793 DOID:2449 DOID:2444 hyperpituitarism MONDO:0019941 hereditary sensory and autonomic neuropathy type 2 MONDO:0015364 DOID:0070161 DOID:0050548 hereditary sensory and autonomic neuropathy MONDO:0019942 distal arthrogryposis MONDO:0003939 DOID:0050646 DOID:66 muscle tissue disorder MONDO:0019950 congenital muscular dystrophy MONDO:0020121 DOID:0050557 DOID:9884 muscular dystrophy MONDO:0019952 congenital myopathy MONDO:0005336 DOID:0081337 DOID:423 myopathy MONDO:0019956 encephalitis MONDO:0005560 DOID:9588 DOID:936 brain disorder MONDO:0019962 thyroid lymphoma MONDO:0002108 DOID:10011 DOID:1781 thyroid cancer MONDO:0019975 pellagra MONDO:0006873 DOID:8457 DOID:5113 nutritional deficiency disease MONDO:0019978 Robinow syndrome MONDO:0002254 DOID:0060254 DOID:225 syndromic disease MONDO:0019992 pseudohypoparathyroidism MONDO:0004689 DOID:4184 DOID:896 inborn metal metabolism disorder MONDO:0020076 myeloproliferative neoplasm MONDO:0005170 DOID:2226 DOID:0070004 myeloid neoplasm MONDO:0020088 familial partial lipodystrophy MONDO:0027767 DOID:0050440 DOID:0080299 partial lipodystrophy MONDO:0020108 autoimmune hemolytic anemia MONDO:0000602 DOID:718 DOID:0060050 autoimmune disorder of blood MONDO:0020108 autoimmune hemolytic anemia MONDO:0003664 DOID:718 DOID:583 hemolytic anemia MONDO:0020119 X-linked syndromic intellectual disability MONDO:0000508 DOID:0060309 DOID:0050888 syndromic intellectual disability MONDO:0020121 muscular dystrophy MONDO:0005336 DOID:9884 DOID:423 myopathy MONDO:0020124 neuromuscular junction disease MONDO:0019056 DOID:439 DOID:440 neuromuscular disease MONDO:0020128 motor neuron disorder MONDO:0005559 DOID:231 DOID:1289 neurodegenerative disease MONDO:0020213 stromal corneal dystrophy MONDO:0018102 DOID:0060442 DOID:2566 corneal dystrophy MONDO:0020283 uveitis MONDO:0002661 DOID:13141 DOID:3480 uveal disorder MONDO:0020290 familial atrioventricular septal defect MONDO:0002078 DOID:0050651 DOID:1681 heart septal defect MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0002612 DOID:0060681 DOID:3331 frontal lobe epilepsy MONDO:0020311 chronic myelomonocytic leukemia MONDO:0001014 DOID:0080188 DOID:1036 chronic leukemia MONDO:0020331 indolent systemic mastocytosis MONDO:0016586 DOID:4660 DOID:349 systemic mastocytosis MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease MONDO:0016586 DOID:4797 DOID:349 systemic mastocytosis MONDO:0020333 aggressive systemic mastocytosis MONDO:0016586 DOID:4798 DOID:349 systemic mastocytosis MONDO:0020334 mast cell leukemia MONDO:0005059 DOID:9254 DOID:1240 leukemia MONDO:0020337 congenital dyserythropoietic anemia type 1 MONDO:0019403 DOID:0111396 DOID:1338 congenital dyserythropoietic anemia MONDO:0020341 periventricular nodular heterotopia MONDO:0002320 DOID:0050454 DOID:2490 congenital nervous system disorder MONDO:0020359 congenital symblepharon MONDO:0007410 DOID:0111720 DOID:0111717 isolated cryptophthalmia MONDO:0020360 complete cryptophthalmia MONDO:0007410 DOID:0111719 DOID:0111717 isolated cryptophthalmia MONDO:0020361 partial cryptophthalmia MONDO:0007410 DOID:0111718 DOID:0111717 isolated cryptophthalmia MONDO:0020369 Chandler syndrome MONDO:0018102 DOID:11554 DOID:2566 corneal dystrophy MONDO:0020380 autosomal dominant cerebellar ataxia MONDO:0000426 DOID:1441 DOID:0050736 autosomal dominant disease MONDO:0020381 patterned macular dystrophy MONDO:0003004 DOID:0060863 DOID:4448 macular degeneration MONDO:0020439 patent foramen ovale MONDO:0006664 DOID:13620 DOID:1882 atrial septal defect MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0004689 DOID:0111165 DOID:896 inborn metal metabolism disorder MONDO:0020487 Pontiac fever MONDO:0005823 DOID:0050150 DOID:10458 legionellosis MONDO:0020491 subcortical band heterotopia MONDO:0002320 DOID:0111169 DOID:2490 congenital nervous system disorder MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:0800448 DOID:0070374 DOID:0060868 leukoencephalopathy with vanishing white matter MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0004967 DOID:0080638 DOID:9952 acute lymphoblastic leukemia MONDO:0020513 spermatocytic seminoma MONDO:0003669 DOID:7891 DOID:5842 testicular seminoma MONDO:0020525 transient neonatal diabetes mellitus MONDO:0016391 DOID:0060334 DOID:11717 neonatal diabetes mellitus MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0006793 DOID:3946 DOID:2444 hyperpituitarism MONDO:0020532 spirillary rat-bite fever MONDO:0000314 DOID:12096 DOID:0050338 primary bacterial infectious disease MONDO:0020533 streptobacillary rat-bite fever MONDO:0000314 DOID:13238 DOID:0050338 primary bacterial infectious disease MONDO:0020550 gestational choriocarcinoma MONDO:0005207 DOID:2025 DOID:3594 choriocarcinoma MONDO:0020552 placental site trophoblastic tumor MONDO:0005207 DOID:3596 DOID:3594 choriocarcinoma MONDO:0020562 pleomorphic liposarcoma MONDO:0005060 DOID:5702 DOID:3382 liposarcoma MONDO:0020563 dedifferentiated liposarcoma MONDO:0005060 DOID:0080531 DOID:3382 liposarcoma MONDO:0020572 complex regional pain syndrome type 2 MONDO:0019369 DOID:3222 DOID:3223 complex regional pain syndrome MONDO:0020604 X-linked dominant disease MONDO:0000425 DOID:0080009 DOID:0050735 X-linked disease MONDO:0020605 X-linked recessive disease MONDO:0000425 DOID:0080012 DOID:0050735 X-linked disease MONDO:0020630 developmental and epileptic encephalopathy 91 MONDO:0100062 DOID:0080472 DOID:0112202 developmental and epileptic encephalopathy MONDO:0020631 developmental and epileptic encephalopathy 92 MONDO:0100062 DOID:0080471 DOID:0112202 developmental and epileptic encephalopathy MONDO:0020632 developmental and epileptic encephalopathy 93 MONDO:0100062 DOID:0112275 DOID:0112202 developmental and epileptic encephalopathy MONDO:0020655 juvenile ankylosing spondylitis MONDO:0005306 DOID:0040092 DOID:7147 ankylosing spondylitis MONDO:0020658 infiltrating ureter transitional cell carcinoma MONDO:0004030 DOID:6845 DOID:6888 ureter transitional cell carcinoma MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:0008803 DOID:0081290 DOID:0081289 Antley-Bixler syndrome MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 DOID:0111778 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0020713 pulmonary venoocclusive disease 1 MONDO:0009937 DOID:0081268 DOID:5453 pulmonary venoocclusive disease MONDO:0020716 thyroid dyshormonogenesis 1 MONDO:0010132 DOID:0112185 DOID:0112183 familial thyroid dyshormonogenesis MONDO:0020717 autosomal dominant wooly hair MONDO:0008686 DOID:0111573 DOID:0111572 isolated familial wooly hair disorder MONDO:0020730 carpal tunnel syndrome 1 MONDO:0007275 DOID:0070466 DOID:12169 carpal tunnel syndrome MONDO:0020733 proximal symphalangism 1A MONDO:0008511 DOID:0080787 DOID:0050788 proximal symphalangism MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 MONDO:0009049 DOID:0111623 DOID:0111622 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0020738 multiple benign circumferential skin creases on limbs 1 MONDO:0007990 DOID:0112242 DOID:0112241 multiple benign circumferential skin creases on limbs MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 MONDO:0010293 DOID:0081078 DOID:0081077 ectodermal dysplasia and immune deficiency MONDO:0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant MONDO:0009945 DOID:0070519 DOID:0080768 pyridoxine-dependent epilepsy MONDO:0020756 migraine, familial hemiplegic, 1 MONDO:0000700 DOID:0111181 DOID:0060178 familial hemiplegic migraine MONDO:0020791 corneal dystrophy, Meesmann, 1 MONDO:0007379 DOID:0080670 DOID:0060451 Meesmann corneal dystrophy MONDO:0020793 oculopharyngodistal myopathy 1 MONDO:0025193 DOID:0081297 DOID:0081296 oculopharyngodistal myopathy MONDO:0020820 distal arthrogryposis type 2B1 MONDO:0000426 DOID:0111600 DOID:0050736 autosomal dominant disease MONDO:0020820 distal arthrogryposis type 2B1 MONDO:0011128 DOID:0111600 DOID:0111599 Sheldon-hall syndrome MONDO:0020846 intellectual disability, autosomal recessive 64 MONDO:0019502 DOID:0081225 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0020850 intellectual disability, autosomal recessive 65 MONDO:0019502 DOID:0081226 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0020851 spermatogenic failure 30 MONDO:0004983 DOID:0111913 DOID:0111910 spermatogenic failure MONDO:0020855 spermatogenic failure 32 MONDO:0004983 DOID:0111925 DOID:0111910 spermatogenic failure MONDO:0020857 ovarian dysgenesis 7 MONDO:0009299 DOID:0080499 DOID:14450 46 XX gonadal dysgenesis MONDO:0021001 hemochromatosis type 1 MONDO:0006507 DOID:0111029 DOID:2352 hereditary hemochromatosis MONDO:0021005 faciodigitogenital syndrome MONDO:0002254 DOID:0111824 DOID:225 syndromic disease MONDO:0021009 salivary gland mucoepidermoid carcinoma MONDO:0000521 DOID:0081293 DOID:0050904 salivary gland carcinoma MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:0015151 DOID:0110305 DOID:0110273 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0021023 complete androgen insensitivity syndrome MONDO:0019154 DOID:0080775 DOID:4674 androgen insensitivity syndrome MONDO:0021035 alopecia-intellectual disability syndrome 1 MONDO:0008756 DOID:0080628 DOID:0080627 alopecia - intellectual disability syndrome MONDO:0021048 benign mastocytoma MONDO:0005165 DOID:4658 DOID:0060084 benign neoplasm MONDO:0021054 bone sarcoma MONDO:0002129 DOID:0080639 DOID:184 bone cancer MONDO:0021056 familial adenomatous polyposis 1 MONDO:0021055 DOID:0080409 DOID:0050424 classic familial adenomatous polyposis MONDO:0021061 neurofibromatosis MONDO:0000426 DOID:8712 DOID:0050736 autosomal dominant disease MONDO:0021063 malignant colon neoplasm MONDO:0005575 DOID:219 DOID:9256 colorectal cancer MONDO:0021069 malignant endocrine neoplasm MONDO:0004992 DOID:170 DOID:0050686 cancer MONDO:0021083 congenital fibrosis of extraocular muscles type 1 MONDO:0007614 DOID:0081015 DOID:0080143 congenital fibrosis of extraocular muscles MONDO:0021090 lipid-rich breast carcinoma MONDO:0003570 DOID:7076 DOID:5658 lipid-rich carcinoma MONDO:0021093 cranioectodermal dysplasia 1 MONDO:0009032 DOID:0080803 DOID:0050577 cranioectodermal dysplasia MONDO:0021097 intraductal breast papilloma MONDO:0002061 DOID:1626 DOID:1628 intraductal papillary breast neoplasm MONDO:0021107 narcolepsy MONDO:0003406 DOID:8986 DOID:535 sleep-wake disorder MONDO:0021113 respiratory failure MONDO:0005275 DOID:11162 DOID:850 lung disorder MONDO:0021118 intestinal neoplasm MONDO:0005020 DOID:4610 DOID:5295 intestinal disorder MONDO:0021129 microphthalmia MONDO:0005328 DOID:10629 DOID:5614 eye disorder MONDO:0021162 carotenemia MONDO:0006504 DOID:9969 DOID:0060158 acquired metabolic disease MONDO:0021167 myositis disease MONDO:0005336 DOID:633 DOID:423 myopathy MONDO:0021169 epithelioid hemangioma MONDO:0006500 DOID:474 DOID:255 hemangioma MONDO:0021439 benign neoplasm of pituitary gland MONDO:0000627 DOID:60009 DOID:0060089 benign endocrine neoplasm MONDO:0021443 benign neoplasm of lymph node MONDO:0000630 DOID:0080617 DOID:0060092 immune system organ benign neoplasm MONDO:0021463 benign neoplasm of parathyroid gland MONDO:0000627 DOID:60008 DOID:0060089 benign endocrine neoplasm MONDO:0021553 transverse myelitis MONDO:0002565 DOID:0080743 DOID:322 myelitis MONDO:0021657 ovarian sex cord-stromal tumor MONDO:0006055 DOID:0080369 DOID:192 sex cord-stromal tumor MONDO:0022519 autoimmune myocarditis MONDO:0004496 DOID:0080767 DOID:820 myocarditis MONDO:0022529 BK-virus nephropathy MONDO:0005784 DOID:0040086 DOID:11266 hantavirus hemorrhagic fever with renal syndrome MONDO:0022697 athetoid cerebral palsy MONDO:0006497 DOID:0050672 DOID:1969 cerebral palsy MONDO:0022993 dipsogenic diabetes insipidus MONDO:0004782 DOID:0081058 DOID:9409 diabetes insipidus MONDO:0023227 gestational diabetes insipidus MONDO:0004782 DOID:0081057 DOID:9409 diabetes insipidus MONDO:0023659 developmental and epileptic encephalopathy 96 MONDO:0100062 DOID:0070377 DOID:0112202 developmental and epileptic encephalopathy MONDO:0023664 spermatogenic failure 54 MONDO:0004983 DOID:0112335 DOID:0111910 spermatogenic failure MONDO:0023670 Bardet-Biedl syndrome 20 MONDO:0015229 DOID:0081009 DOID:1935 Bardet-Biedl syndrome MONDO:0023671 oculopharyngodistal myopathy 3 MONDO:0025193 DOID:0081299 DOID:0081296 oculopharyngodistal myopathy MONDO:0024182 dry beriberi MONDO:0006676 DOID:0070318 DOID:13725 beriberi MONDO:0024183 wet beriberi MONDO:0006676 DOID:0070317 DOID:13725 beriberi MONDO:0024227 miliaria pustulosa MONDO:0006580 DOID:0070319 DOID:1382 miliaria MONDO:0024228 miliaria profunda MONDO:0006580 DOID:0070320 DOID:1382 miliaria MONDO:0024229 miliaria crystallina MONDO:0006580 DOID:0070321 DOID:1382 miliaria MONDO:0024240 eccrine carcinoma MONDO:0005506 DOID:4920 DOID:4921 eccrine sweat gland cancer MONDO:0024286 benign blood vessel neoplasm MONDO:0000629 DOID:60006 DOID:0060091 cardiovascular organ benign neoplasm MONDO:0024301 acquired mineral metabolism disease MONDO:0006504 DOID:0050032 DOID:0060158 acquired metabolic disease MONDO:0024305 acquired hyperprolactinemia MONDO:0006504 DOID:12700 DOID:0060158 acquired metabolic disease MONDO:0024309 neuropathy, hereditary sensory and autonomic, type 2A MONDO:0019941 DOID:0070155 DOID:0070161 hereditary sensory and autonomic neuropathy type 2 MONDO:0024331 colorectal carcinoma MONDO:0005575 DOID:0080199 DOID:9256 colorectal cancer MONDO:0024336 vulvar adenocarcinoma MONDO:0004970 DOID:2098 DOID:299 adenocarcinoma MONDO:0024336 vulvar adenocarcinoma MONDO:0005215 DOID:2098 DOID:1294 vulvar carcinoma MONDO:0024387 benign ovarian sex cord-stromal tumor MONDO:0024988 DOID:0080370 DOID:0080368 sex cord-stromal benign neoplasm MONDO:0024463 ovarian dysgenesis 1 MONDO:0009299 DOID:0080493 DOID:14450 46 XX gonadal dysgenesis MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0005154 DOID:916 DOID:409 liver disorder MONDO:0024508 epilepsy, hot water, 1 MONDO:0013229 DOID:0081106 DOID:0081104 hot water reflex epilepsy MONDO:0024517 SMARCB1-related schwannomatosis MONDO:0008075 DOID:0070480 DOID:3204 schwannomatosis MONDO:0024523 aortic valve disease 1 MONDO:0007194 DOID:0080333 DOID:0080332 familial bicuspid aortic valve MONDO:0024536 glucocorticoid deficiency 1 MONDO:0008733 DOID:0080621 DOID:0080620 familial glucocorticoid deficiency MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008891 DOID:0080785 DOID:0050694 riboflavin transporter deficiency MONDO:0024541 trichohepatoenteric syndrome 1 MONDO:0009105 DOID:0111415 DOID:0111414 trichohepatoenteric syndrome MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0009133 DOID:0070556 DOID:0050997 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0024545 Miyoshi muscular dystrophy 1 MONDO:0009685 DOID:0070199 DOID:0070198 Miyoshi myopathy MONDO:0024550 frontometaphyseal dysplasia 1 MONDO:0015942 DOID:0111786 DOID:0111785 frontometaphyseal dysplasia MONDO:0024552 linear skin defects with multiple congenital anomalies 1 MONDO:0010672 DOID:0111808 DOID:0111875 linear skin defects with multiple congenital anomalies MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0000863 DOID:0111185 DOID:0080099 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0024554 D-2-hydroxyglutaric aciduria 1 MONDO:0010924 DOID:0111351 DOID:0050575 D-2-hydroxyglutaric aciduria MONDO:0024555 megalencephalic leukoencephalopathy with subcortical cysts 1 MONDO:0011391 DOID:0080316 DOID:0080315 megalencephalic leukoencephalopathy with subcortical cysts MONDO:0024556 epilepsy, familial focal, with variable foci 1 MONDO:0020310 DOID:0081421 DOID:0081420 familial focal epilepsy with variable foci MONDO:0024566 febrile seizures, familial, 11 MONDO:0000032 DOID:0111308 DOID:0111297 febrile seizures, familial MONDO:0024568 infantile liver failure syndrome 1 MONDO:0000023 DOID:0080717 DOID:0080716 infantile liver failure MONDO:0024573 familial hypertrophic cardiomyopathy MONDO:0005045 DOID:0080326 DOID:11984 hypertrophic cardiomyopathy MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0019950 DOID:0080197 DOID:0050557 congenital muscular dystrophy MONDO:0024608 dientamoebiasis MONDO:0002428 DOID:946 DOID:2789 protozoa infectious disease MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005096 DOID:2101 DOID:1749 squamous cell carcinoma MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005215 DOID:2101 DOID:1294 vulvar carcinoma MONDO:0024622 thyroid gland adenocarcinoma MONDO:0004970 DOID:0080524 DOID:299 adenocarcinoma MONDO:0024622 thyroid gland adenocarcinoma MONDO:0015075 DOID:0080524 DOID:3963 thyroid gland carcinoma MONDO:0024647 urolithiasis MONDO:0002118 DOID:0080653 DOID:18 urinary system disorder MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0002400 DOID:2702 DOID:2703 synovitis MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type MONDO:0020119 DOID:0070422 DOID:0060309 X-linked syndromic intellectual disability MONDO:0024773 spermatogenic failure, X-linked, 4 MONDO:0004983 DOID:0070595 DOID:0111910 spermatogenic failure MONDO:0024988 sex cord-stromal benign neoplasm MONDO:0000383 DOID:0080368 DOID:0050622 benign reproductive system neoplasm MONDO:0025353 developmental and epileptic encephalopathy, 90 MONDO:0100062 DOID:0070381 DOID:0112202 developmental and epileptic encephalopathy MONDO:0025354 spermatogenic failure, X-linked, 3 MONDO:0004983 DOID:0112274 DOID:0111910 spermatogenic failure MONDO:0025514 livedoid vasculopathy MONDO:0018882 DOID:0040099 DOID:865 vasculitis MONDO:0025556 isocyanate induced asthma MONDO:0004784 DOID:0040041 DOID:9415 allergic asthma MONDO:0025699 Coffin-Siris syndrome 12 MONDO:0015452 DOID:0112370 DOID:1925 Coffin-Siris syndrome MONDO:0025701 leukodystrophy, hypomyelinating, 22 MONDO:0019046 DOID:0070402 DOID:0060786 leukodystrophy MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 MONDO:0100223 DOID:0112099 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 MONDO:0100223 DOID:0112098 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0026724 Paganini-Miozzo syndrome MONDO:0020119 DOID:0111843 DOID:0060309 X-linked syndromic intellectual disability MONDO:0026726 nephrotic syndrome, type 20 MONDO:0002350 DOID:0070357 DOID:2590 familial nephrotic syndrome MONDO:0026729 congenital disorder of glycosylation, type ICC MONDO:0005500 DOID:0111839 DOID:0050570 congenital disorder of glycosylation type I MONDO:0026763 holoprosencephaly 13, X-linked MONDO:0016296 DOID:0060954 DOID:4621 holoprosencephaly MONDO:0026763 holoprosencephaly 13, X-linked MONDO:0020605 DOID:0060954 DOID:0080012 X-linked recessive disease MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects MONDO:0100062 DOID:0070380 DOID:0112202 developmental and epileptic encephalopathy MONDO:0027048 deafness, Y-linked 2 MONDO:0033304 DOID:0111758 DOID:0111757 nonsyndromic deafness, Y-linked MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 MONDO:0014471 DOID:0111748 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0027353 autosomal recessive dyskeratosis congenita 4 MONDO:0015780 DOID:0070021 DOID:2729 dyskeratosis congenita MONDO:0027407 Kleefstra syndrome 1 MONDO:0012455 DOID:0060352 DOID:0080597 Kleefstra syndrome MONDO:0027676 congenital anomalies of kidney and urinary tract 2 MONDO:0019719 DOID:0080207 DOID:0080205 congenital anomaly of kidney and urinary tract MONDO:0027766 generalized lipodystrophy MONDO:0006573 DOID:0080298 DOID:811 lipodystrophy MONDO:0027767 partial lipodystrophy MONDO:0006573 DOID:0080299 DOID:811 lipodystrophy MONDO:0027772 lung colloid adenocarcinoma MONDO:0004957 DOID:0080303 DOID:3030 mucinous adenocarcinoma MONDO:0027772 lung colloid adenocarcinoma MONDO:0005061 DOID:0080303 DOID:3910 lung adenocarcinoma MONDO:0027772 lung colloid adenocarcinoma MONDO:0005061 DOID:0080304 DOID:3910 lung adenocarcinoma MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0006025 DOID:0111984 DOID:0050737 autosomal recessive disease MONDO:0029137 hearing loss, autosomal dominant 74 MONDO:0019587 DOID:0112165 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0029138 developmental and epileptic encephalopathy, 67 MONDO:0100062 DOID:0112203 DOID:0112202 developmental and epileptic encephalopathy MONDO:0029142 hearing loss, autosomal recessive 111 MONDO:0019588 DOID:0111640 DOID:0050565 hearing loss, autosomal recessive MONDO:0029145 orofacial cleft 8 MONDO:0000358 DOID:0080401 DOID:0050567 orofacial cleft MONDO:0029147 spermatogenic failure 33 MONDO:0004983 DOID:0111915 DOID:0111910 spermatogenic failure MONDO:0029148 spermatogenic failure 34 MONDO:0004983 DOID:0111911 DOID:0111910 spermatogenic failure MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0000732 DOID:0112117 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0030007 combined oxidative phosphorylation deficiency 41 MONDO:0000732 DOID:0112119 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0030008 combined oxidative phosphorylation deficiency 42 MONDO:0000732 DOID:0112118 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0030009 alopecia-intellectual disability syndrome 4 MONDO:0008756 DOID:0080950 DOID:0080627 alopecia - intellectual disability syndrome MONDO:0030017 combined oxidative phosphorylation deficiency 43 MONDO:0000732 DOID:0112116 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0030019 anauxetic dysplasia 3 MONDO:0011773 DOID:0080963 DOID:0080942 anauxetic dysplasia MONDO:0030020 combined oxidative phosphorylation deficiency 44 MONDO:0000732 DOID:0070424 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0030027 tremor, hereditary essential, 6 MONDO:0003233 DOID:0081295 DOID:4990 essential tremor MONDO:0030031 lissencephaly 10 MONDO:0018838 DOID:0112229 DOID:0050453 lissencephaly spectrum disorders MONDO:0030054 developmental and epileptic encephalopathy, 86 MONDO:0100062 DOID:0112220 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 MONDO:0015363 DOID:0081427 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0030058 hearing loss, autosomal dominant 77 MONDO:0019587 DOID:0112168 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0030059 developmental and epileptic encephalopathy, 87 MONDO:0100062 DOID:0112221 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030064 episodic ataxia, type 9 MONDO:0016227 DOID:0060965 DOID:963 hereditary episodic ataxia MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 MONDO:0018305 DOID:0070368 DOID:3265 chronic granulomatous disease MONDO:0030067 Treacher Collins syndrome 4 MONDO:0002457 DOID:0080792 DOID:2908 Treacher-Collins syndrome MONDO:0030072 developmental and epileptic encephalopathy, 88 MONDO:0100062 DOID:0112222 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030105 galactosemia 4 MONDO:0018116 DOID:0060969 DOID:9870 galactosemia MONDO:0030134 oculopharyngodistal myopathy 2 MONDO:0025193 DOID:0081298 DOID:0081296 oculopharyngodistal myopathy MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0020135 DOID:0112325 DOID:0060264 pontocerebellar hypoplasia MONDO:0030259 pontocerebellar hypoplasia, type 15 MONDO:0020135 DOID:0112326 DOID:0060264 pontocerebellar hypoplasia MONDO:0030263 leukodystrophy, hypomyelinating, 21 MONDO:0019046 DOID:0070407 DOID:0060786 leukodystrophy MONDO:0030268 developmental and epileptic encephalopathy 6B MONDO:0100062 DOID:0070379 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030281 arthrogryposis multiplex congenita 6 MONDO:0015168 DOID:0070336 DOID:0080954 arthrogryposis multiplex congenita MONDO:0030307 spermatogenic failure 55 MONDO:0004983 DOID:0112337 DOID:0111910 spermatogenic failure MONDO:0030311 combined oxidative phosphorylation deficiency 52 MONDO:0000732 DOID:0070425 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0030312 spinocerebellar ataxia, autosomal recessive 29 MONDO:0015244 DOID:0070410 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0030318 spinocerebellar ataxia, autosomal recessive 30 MONDO:0015244 DOID:0070411 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0030323 spinocerebellar ataxia, autosomal recessive 31 MONDO:0015244 DOID:0070412 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) MONDO:0018158 DOID:0070447 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic MONDO:0001347 DOID:0060917 DOID:11727 facioscapulohumeral muscular dystrophy MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic MONDO:0001347 DOID:0060918 DOID:11727 facioscapulohumeral muscular dystrophy MONDO:0030378 combined oxidative phosphorylation deficiency 53 MONDO:0000732 DOID:0070426 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0030430 spermatogenic failure 56 MONDO:0004983 DOID:0112336 DOID:0111910 spermatogenic failure MONDO:0030438 pontocerebellar hypoplasia, type 16 MONDO:0020135 DOID:0112333 DOID:0060264 pontocerebellar hypoplasia MONDO:0030439 spermatogenic failure 57 MONDO:0004983 DOID:0112338 DOID:0111910 spermatogenic failure MONDO:0030440 cone-rod dystrophy 22 MONDO:0015993 DOID:0081448 DOID:0050572 cone-rod dystrophy MONDO:0030453 developmental and epileptic encephalopathy 97 MONDO:0100062 DOID:0070383 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030463 spermatogenic failure 58 MONDO:0004983 DOID:0112352 DOID:0111910 spermatogenic failure MONDO:0030472 developmental and epileptic encephalopathy 98 MONDO:0100062 DOID:0070384 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030473 developmental and epileptic encephalopathy 99 MONDO:0100062 DOID:0070385 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030492 spermatogenic failure 59 MONDO:0004983 DOID:0112357 DOID:0111910 spermatogenic failure MONDO:0030493 spermatogenic failure 60 MONDO:0004983 DOID:0112355 DOID:0111910 spermatogenic failure MONDO:0030500 Loeys-Dietz syndrome 6 MONDO:0018954 DOID:0060964 DOID:0050466 Loeys-Dietz syndrome MONDO:0030507 spermatogenic failure 61 MONDO:0004983 DOID:0112350 DOID:0111910 spermatogenic failure MONDO:0030508 spermatogenic failure 62 MONDO:0004983 DOID:0112351 DOID:0111910 spermatogenic failure MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy MONDO:0019046 DOID:0070397 DOID:0060786 leukodystrophy MONDO:0030515 spermatogenic failure 63 MONDO:0004983 DOID:0112356 DOID:0111910 spermatogenic failure MONDO:0030519 agammaglobulinemia 9, autosomal recessive MONDO:0015977 DOID:0081141 DOID:2583 agammaglobulinemia MONDO:0030522 spermatogenic failure 64 MONDO:0004983 DOID:0112353 DOID:0111910 spermatogenic failure MONDO:0030529 agammaglobulinemia 10, autosomal dominant MONDO:0015977 DOID:0081142 DOID:2583 agammaglobulinemia MONDO:0030531 spermatogenic failure 65 MONDO:0004983 DOID:0112354 DOID:0111910 spermatogenic failure MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 MONDO:0019502 DOID:0081233 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0030543 combined oxidative phosphorylation deficiency 54 MONDO:0000732 DOID:0070427 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0030553 acromesomelic dysplasia 4 MONDO:0019696 DOID:0081238 DOID:0080049 acromesomelic dysplasia MONDO:0030602 Klebsiella pneumonia MONDO:0004652 DOID:13272 DOID:874 bacterial pneumonia MONDO:0030674 Teebi hypertelorism syndrome 2 MONDO:0030639 DOID:0081074 DOID:0081073 Teebi hypertelorism syndrome MONDO:0030695 developmental and epileptic encephalopathy 100 MONDO:0100062 DOID:0070386 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) MONDO:0018158 DOID:0070451 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0030701 autoimmune cardiomyopathy MONDO:0000603 DOID:0040095 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:0030702 autoimmune atherosclerosis MONDO:0000603 DOID:0040096 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:0030703 autoimmune vasculitis MONDO:0000603 DOID:0040097 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:0030712 oculopharyngodistal myopathy 4 MONDO:0025193 DOID:0081300 DOID:0081296 oculopharyngodistal myopathy MONDO:0030721 spermatogenic failure 68 MONDO:0004983 DOID:0070567 DOID:0111910 spermatogenic failure MONDO:0030727 developmental and epileptic encephalopathy 101 MONDO:0100062 DOID:0070387 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030732 spermatogenic failure 69 MONDO:0004983 DOID:0070568 DOID:0111910 spermatogenic failure MONDO:0030733 spermatogenic failure 70 MONDO:0004983 DOID:0070569 DOID:0111910 spermatogenic failure MONDO:0030781 restrictive dermopathy 2 MONDO:0031213 DOID:0070370 DOID:0060762 restrictive dermopathy MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly MONDO:0019502 DOID:0081234 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0030787 spermatogenic failure 71 MONDO:0004983 DOID:0070570 DOID:0111910 spermatogenic failure MONDO:0030809 spermatogenic failure 72 MONDO:0004983 DOID:0070571 DOID:0111910 spermatogenic failure MONDO:0030818 spermatogenic failure 73 MONDO:0004983 DOID:0070572 DOID:0111910 spermatogenic failure MONDO:0030844 spermatogenic failure 47 MONDO:0004983 DOID:0112175 DOID:0111910 spermatogenic failure MONDO:0030846 spermatogenic failure 48 MONDO:0004983 DOID:0112176 DOID:0111910 spermatogenic failure MONDO:0030856 developmental and epileptic encephalopathy 89 MONDO:0100062 DOID:0112223 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030861 osteogenesis imperfecta, type 21 MONDO:0019019 DOID:0112201 DOID:12347 osteogenesis imperfecta MONDO:0030868 spermatogenic failure 49 MONDO:0004983 DOID:0112271 DOID:0111910 spermatogenic failure MONDO:0030869 spermatogenic failures 50 MONDO:0004983 DOID:0112272 DOID:0111910 spermatogenic failure MONDO:0030881 developmental and epileptic encephalopathy 102 MONDO:0100062 DOID:0070388 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030883 carpal tunnel syndrome 2 MONDO:0007275 DOID:0070467 DOID:12169 carpal tunnel syndrome MONDO:0030895 nephrotic syndrome, type 22 MONDO:0002350 DOID:0112268 DOID:2590 familial nephrotic syndrome MONDO:0030906 Trichomonas tenax infectious disease MONDO:0002154 DOID:0050270 DOID:1947 trichomoniasis MONDO:0030907 intellectual disability, X-linked 106 MONDO:0019181 DOID:0080240 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0030908 intellectual disability, X-linked, syndromic, 35 MONDO:0020119 DOID:0080241 DOID:0060309 X-linked syndromic intellectual disability MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type MONDO:0020119 DOID:0080242 DOID:0060309 X-linked syndromic intellectual disability MONDO:0030910 intellectual disability, autosomal dominant 45 MONDO:0015802 DOID:0080236 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030911 intellectual disability, autosomal dominant 46 MONDO:0015802 DOID:0080237 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:0015802 DOID:0080238 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030914 Clark-Baraitser syndrome MONDO:0015802 DOID:0080234 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030915 intellectual disability, autosomal recessive 61 MONDO:0019502 DOID:0080239 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0030916 intellectual disability, autosomal dominant 50 MONDO:0015802 DOID:0080233 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030917 intellectual disability, autosomal dominant 51 MONDO:0015802 DOID:0080232 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030918 intellectual disability, autosomal dominant 52 MONDO:0015802 DOID:0080231 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030919 intellectual disability, autosomal dominant 53 MONDO:0015802 DOID:0080228 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030920 intellectual disability, autosomal dominant 54 MONDO:0015802 DOID:0080230 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030921 intellectual disability, autosomal dominant 55, with seizures MONDO:0015802 DOID:0080227 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030922 intellectual disability, autosomal dominant 56 MONDO:0015802 DOID:0080226 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 MONDO:0009726 DOID:0060919 DOID:0060913 proteosome-associated autoinflammatory syndrome MONDO:0030926 spermatogenic failure 51 MONDO:0004983 DOID:0112273 DOID:0111910 spermatogenic failure MONDO:0030927 myofibrillar myopathy 11 MONDO:0018943 DOID:0081338 DOID:0080307 myofibrillar myopathy MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 MONDO:0009726 DOID:0060915 DOID:0060913 proteosome-associated autoinflammatory syndrome MONDO:0030938 spermatogenic failure 52 MONDO:0004983 DOID:0112270 DOID:0111910 spermatogenic failure MONDO:0030957 developmental and epileptic encephalopathy 103 MONDO:0100062 DOID:0070389 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030962 nephrotic syndrome, type 23 MONDO:0002350 DOID:0112266 DOID:2590 familial nephrotic syndrome MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 MONDO:0019502 DOID:0081235 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0030972 spermatogenic failure 74 MONDO:0004983 DOID:0070573 DOID:0111910 spermatogenic failure MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 MONDO:0015363 DOID:0081426 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0030984 spermatogenic failure 75 MONDO:0004983 DOID:0070574 DOID:0111910 spermatogenic failure MONDO:0030989 spermatogenic failure 53 MONDO:0004983 DOID:0112279 DOID:0111910 spermatogenic failure MONDO:0031012 autoimmune uveitis MONDO:0000587 DOID:0040088 DOID:0060030 autoimmune disease of ear, nose and throat MONDO:0031013 autoimmune optic neuritis MONDO:0000590 DOID:0040089 DOID:0060033 autoimmune disorder of peripheral nervous system MONDO:0031014 autoimmune gastritis MONDO:0000588 DOID:0040090 DOID:0060031 autoimmune disorder of gastrointestinal tract MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0019064 DOID:0070456 DOID:2476 hereditary spastic paraplegia MONDO:0031021 developmental and epileptic encephalopathy 104 MONDO:0100062 DOID:0070390 DOID:0112202 developmental and epileptic encephalopathy MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:0100062 DOID:0070391 DOID:0112202 developmental and epileptic encephalopathy MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 MONDO:0019502 DOID:0081236 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0031052 developmental and epileptic encephalopathy 106 MONDO:0100062 DOID:0070392 DOID:0112202 developmental and epileptic encephalopathy MONDO:0031055 developmental and epileptic encephalopathy 107 MONDO:0100062 DOID:0070393 DOID:0112202 developmental and epileptic encephalopathy MONDO:0031062 polycystic kidney disease 7 MONDO:0004691 DOID:0060952 DOID:898 autosomal dominant polycystic kidney disease MONDO:0031077 spermatogenic failure 76 MONDO:0004983 DOID:0070575 DOID:0111910 spermatogenic failure MONDO:0031083 spermatogenic failure 77 MONDO:0004983 DOID:0070576 DOID:0111910 spermatogenic failure MONDO:0031084 amelogenesis imperfecta, IIa 1K MONDO:0019507 DOID:0060945 DOID:2187 amelogenesis imperfecta MONDO:0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0002254 DOID:0081072 DOID:225 syndromic disease MONDO:0032526 spinocerebellar ataxia 48 MONDO:0020380 DOID:0111746 DOID:1441 autosomal dominant cerebellar ataxia MONDO:0032577 retinitis pigmentosa 83 MONDO:0019200 DOID:0112140 DOID:10584 retinitis pigmentosa MONDO:0032580 nephrotic syndrome, type 17 MONDO:0002350 DOID:0080392 DOID:2590 familial nephrotic syndrome MONDO:0032581 nephrotic syndrome, type 18 MONDO:0002350 DOID:0080393 DOID:2590 familial nephrotic syndrome MONDO:0032582 nephrotic syndrome, type 19 MONDO:0002350 DOID:0080394 DOID:2590 familial nephrotic syndrome MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MONDO:0019287 DOID:0111662 DOID:2121 ectodermal dysplasia syndrome MONDO:0032590 ovarian dysgenesis 8 MONDO:0009299 DOID:0080500 DOID:14450 46 XX gonadal dysgenesis MONDO:0032598 developmental and epileptic encephalopathy, 68 MONDO:0100062 DOID:0112204 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032604 retinitis pigmentosa 84 MONDO:0019200 DOID:0112141 DOID:10584 retinitis pigmentosa MONDO:0032605 intellectual disability, autosomal recessive 66 MONDO:0019502 DOID:0081227 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 MONDO:0100223 DOID:0112083 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 MONDO:0100223 DOID:0112093 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 MONDO:0100223 DOID:0112082 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 MONDO:0100223 DOID:0112068 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 MONDO:0100223 DOID:0112066 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 MONDO:0100223 DOID:0112092 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 MONDO:0100223 DOID:0112081 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 MONDO:0100223 DOID:0112073 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 MONDO:0100223 DOID:0112075 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 MONDO:0100223 DOID:0112089 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 MONDO:0100223 DOID:0112076 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 MONDO:0100223 DOID:0112094 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 MONDO:0100223 DOID:0112077 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 MONDO:0100223 DOID:0112096 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17 MONDO:0100223 DOID:0112078 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 MONDO:0100223 DOID:0112070 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 MONDO:0100223 DOID:0112085 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 MONDO:0100223 DOID:0112088 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032626 mitochondrial complex 1 deficiency, nuclear type 22 MONDO:0100223 DOID:0112069 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032627 mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0100223 DOID:0112087 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 MONDO:0100223 DOID:0112079 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 MONDO:0100223 DOID:0112067 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032630 mitochondrial complex 1 deficiency, nuclear type 26 MONDO:0100223 DOID:0112086 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032631 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0100223 DOID:0112090 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032632 mitochondrial complex 1 deficiency, nuclear type 28 MONDO:0100223 DOID:0112095 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0100223 DOID:0112084 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 MONDO:0100223 DOID:0112071 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 MONDO:0100223 DOID:0112080 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 MONDO:0100223 DOID:0112097 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032637 ciliary dyskinesia, primary, 39 MONDO:0016575 DOID:0111854 DOID:9562 primary ciliary dyskinesia MONDO:0032639 hearing loss, autosomal recessive 112 MONDO:0019588 DOID:0111637 DOID:0050565 hearing loss, autosomal recessive MONDO:0032643 pontocerebellar hypoplasia, type 12 MONDO:0020135 DOID:0112327 DOID:0060264 pontocerebellar hypoplasia MONDO:0032649 hypotrichosis 14 MONDO:0003037 DOID:0080582 DOID:4535 hypotrichosis MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive MONDO:0018037 DOID:0080595 DOID:0080545 hyper-IgE syndrome MONDO:0032657 developmental and epileptic encephalopathy, 69 MONDO:0100062 DOID:0112205 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant MONDO:0018190 DOID:0070350 DOID:0070348 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 MONDO:0019502 DOID:0081228 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0032663 developmental and epileptic encephalopathy, 70 MONDO:0100062 DOID:0112206 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032664 ciliary dyskinesia, primary, 40 MONDO:0016575 DOID:0111853 DOID:9562 primary ciliary dyskinesia MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 MONDO:0019502 DOID:0081229 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0032668 Diamond-Blackfan anemia 18 MONDO:0015253 DOID:0111896 DOID:1339 Diamond-Blackfan anemia MONDO:0032669 Diamond-Blackfan anemia 19 MONDO:0015253 DOID:0111886 DOID:1339 Diamond-Blackfan anemia MONDO:0032670 Diamond-Blackfan anemia 20 MONDO:0015253 DOID:0111891 DOID:1339 Diamond-Blackfan anemia MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0100062 DOID:0112207 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032679 combined oxidative phosphorylation deficiency 37 MONDO:0000732 DOID:0111499 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0032686 spermatogenic failure 35 MONDO:0004983 DOID:0111914 DOID:0111910 spermatogenic failure MONDO:0032689 retinitis pigmentosa 85 MONDO:0019200 DOID:0112142 DOID:10584 retinitis pigmentosa MONDO:0032702 Coffin-Siris syndrome 8 MONDO:0015452 DOID:0112367 DOID:1925 Coffin-Siris syndrome MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 MONDO:0015244 DOID:0111616 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0032710 developmental and epileptic encephalopathy, 72 MONDO:0100062 DOID:0112208 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032712 combined oxidative phosphorylation deficiency 38 MONDO:0000732 DOID:0111466 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 MONDO:0019502 DOID:0081230 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0032721 spondyloepiphyseal dysplasia, kondo-fu type MONDO:0016761 DOID:0112283 DOID:0112280 spondyloepiphyseal dysplasia MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 MONDO:0006025 DOID:0112200 DOID:0050737 autosomal recessive disease MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 MONDO:0019675 DOID:0112200 DOID:0112197 spondyloepimetaphyseal dysplasia with joint laxity MONDO:0032725 developmental and epileptic encephalopathy, 74 MONDO:0100062 DOID:0112210 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0000732 DOID:0111475 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0032728 Charcot-Marie-Tooth disease, axonal, type 2EE MONDO:0018993 DOID:0111559 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 MONDO:0019502 DOID:0081231 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0032730 leukodystrophy, hypomyelinating, 18 MONDO:0019046 DOID:0070399 DOID:0060786 leukodystrophy MONDO:0032732 hearing loss, autosomal recessive 113 MONDO:0019588 DOID:0111636 DOID:0050565 hearing loss, autosomal recessive MONDO:0032735 cataract 48 MONDO:0005129 DOID:0070354 DOID:83 cataract MONDO:0032737 spastic paraplegia 80, autosomal dominant MONDO:0019064 DOID:0112341 DOID:2476 hereditary spastic paraplegia MONDO:0032739 spermatogenic failure 36 MONDO:0004983 DOID:0111921 DOID:0111910 spermatogenic failure MONDO:0032740 hearing loss, autosomal recessive 100 MONDO:0019588 DOID:0111638 DOID:0050565 hearing loss, autosomal recessive MONDO:0032744 spermatogenic failure 37 MONDO:0004983 DOID:0111927 DOID:0111910 spermatogenic failure MONDO:0032748 spermatogenic failure 38 MONDO:0004983 DOID:0111919 DOID:0111910 spermatogenic failure MONDO:0032749 hearing loss, autosomal recessive 94 MONDO:0019588 DOID:0111641 DOID:0050565 hearing loss, autosomal recessive MONDO:0032750 arthrogryposis, distal, type 2B2 MONDO:0000426 DOID:0111601 DOID:0050736 autosomal dominant disease MONDO:0032750 arthrogryposis, distal, type 2B2 MONDO:0011128 DOID:0111601 DOID:0111599 Sheldon-hall syndrome MONDO:0032751 arthrogryposis, distal, type 2B3 MONDO:0000426 DOID:0111602 DOID:0050736 autosomal dominant disease MONDO:0032751 arthrogryposis, distal, type 2B3 MONDO:0011128 DOID:0111602 DOID:0111599 Sheldon-hall syndrome MONDO:0032752 developmental and epileptic encephalopathy, 75 MONDO:0100062 DOID:0112211 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032757 ciliary dyskinesia, primary, 41 MONDO:0016575 DOID:0111858 DOID:9562 primary ciliary dyskinesia MONDO:0032761 hearing loss, autosomal recessive 114 MONDO:0019588 DOID:0111642 DOID:0050565 hearing loss, autosomal recessive MONDO:0032762 hearing loss, autosomal recessive 115 MONDO:0019588 DOID:0111643 DOID:0050565 hearing loss, autosomal recessive MONDO:0032768 developmental and epileptic encephalopathy, 76 MONDO:0100062 DOID:0112212 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032776 hearing loss, autosomal recessive 99 MONDO:0019588 DOID:0111634 DOID:0050565 hearing loss, autosomal recessive MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 MONDO:0018214 DOID:0111296 DOID:0060170 generalized epilepsy with febrile seizures plus MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type MONDO:0015168 DOID:0080979 DOID:0080954 arthrogryposis multiplex congenita MONDO:0032783 aortic valve disease 3 MONDO:0007194 DOID:0080977 DOID:0080332 familial bicuspid aortic valve MONDO:0032786 Noonan syndrome 11 MONDO:0018997 DOID:0112169 DOID:3490 Noonan syndrome MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis MONDO:0016296 DOID:0081398 DOID:4621 holoprosencephaly MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 MONDO:0019502 DOID:0081232 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0032791 Coffin-Siris syndrome 10 MONDO:0015452 DOID:0112371 DOID:1925 Coffin-Siris syndrome MONDO:0032794 leber congenital amaurosis 19 MONDO:0018998 DOID:0081169 DOID:14791 Leber congenital amaurosis MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0018037 DOID:0080596 DOID:0080545 hyper-IgE syndrome MONDO:0032797 myopathy, congenital, with tremor MONDO:0019952 DOID:0081348 DOID:0081337 congenital myopathy MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0018158 DOID:0070446 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0032800 robinow syndrome, autosomal recessive 2 MONDO:0019978 DOID:0060974 DOID:0060254 Robinow syndrome MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 MONDO:0017851 DOID:0080766 DOID:0050467 erythrokeratodermia variabilis MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type MONDO:0019287 DOID:0111651 DOID:2121 ectodermal dysplasia syndrome MONDO:0032808 developmental and epileptic encephalopathy, 77 MONDO:0100247 DOID:0112213 DOID:0080503 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0032812 developmental and epileptic encephalopathy, 78 MONDO:0100062 DOID:0112214 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032813 developmental and epileptic encephalopathy, 79 MONDO:0100062 DOID:0112215 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032815 mitochondrial DNA depletion syndrome 17 MONDO:0018158 DOID:0070448 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0032821 myopathy, congenital, progressive, with scoliosis MONDO:0019952 DOID:0081351 DOID:0081337 congenital myopathy MONDO:0032822 developmental and epileptic encephalopathy, 80 MONDO:0100062 DOID:0112216 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032826 nephrotic syndrome, type 21 MONDO:0002350 DOID:0112267 DOID:2590 familial nephrotic syndrome MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0020135 DOID:0112332 DOID:0060264 pontocerebellar hypoplasia MONDO:0032834 retinitis pigmentosa 86 MONDO:0019200 DOID:0112143 DOID:10584 retinitis pigmentosa MONDO:0032835 spondyloepiphyseal dysplasia, nishimura type MONDO:0016761 DOID:0112288 DOID:0112280 spondyloepiphyseal dysplasia MONDO:0032837 abdominal obesity-metabolic syndrome 4 MONDO:0000816 DOID:0080945 DOID:0060611 abdominal obesity-metabolic syndrome MONDO:0032839 noonan syndrome 12 MONDO:0018997 DOID:0112170 DOID:3490 Noonan syndrome MONDO:0032845 spermatogenic failure 39 MONDO:0004983 DOID:0111926 DOID:0111910 spermatogenic failure MONDO:0032846 osteogenesis imperfecta, type 20 MONDO:0019019 DOID:0111849 DOID:12347 osteogenesis imperfecta MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities MONDO:0019952 DOID:0081342 DOID:0081337 congenital myopathy MONDO:0032858 developmental and epileptic encephalopathy, 81 MONDO:0100062 DOID:0112217 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032859 spermatogenic failure 40 MONDO:0004983 DOID:0111918 DOID:0111910 spermatogenic failure MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 MONDO:0019502 DOID:0080765 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0032863 spermatogenic failure 41 MONDO:0004983 DOID:0111912 DOID:0111910 spermatogenic failure MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 MONDO:0014471 DOID:0111749 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile MONDO:0019046 DOID:0070400 DOID:0060786 leukodystrophy MONDO:0032872 ciliary dyskinesia, primary, 42 MONDO:0016575 DOID:0111855 DOID:9562 primary ciliary dyskinesia MONDO:0032874 ciliary dyskinesia, primary, 43 MONDO:0016575 DOID:0111856 DOID:9562 primary ciliary dyskinesia MONDO:0032880 developmental and epileptic encephalopathy, 82 MONDO:0100062 DOID:0080715 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032891 aneurysm, intracranial berry, 12 MONDO:0016483 DOID:0080975 DOID:0060228 intracranial berry aneurysm MONDO:0032895 developmental and epileptic encephalopathy, 83 MONDO:0100062 DOID:0112218 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032896 spermatogenic failure 42 MONDO:0004983 DOID:0111923 DOID:0111910 spermatogenic failure MONDO:0032898 spermatogenic failure 43 MONDO:0004983 DOID:0111917 DOID:0111910 spermatogenic failure MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum MONDO:0015168 DOID:0080980 DOID:0080954 arthrogryposis multiplex congenita MONDO:0032904 corneal dystrophy, Meesmann, 2 MONDO:0007379 DOID:0080671 DOID:0060451 Meesmann corneal dystrophy MONDO:0032906 spastic paraplegia 82, autosomal recessive MONDO:0019064 DOID:0112343 DOID:2476 hereditary spastic paraplegia MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 MONDO:0100223 DOID:0112091 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0032911 hearing loss, autosomal dominant 75 MONDO:0019587 DOID:0112166 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0032912 Coffin-Siris syndrome 11 MONDO:0015452 DOID:0112372 DOID:1925 Coffin-Siris syndrome MONDO:0032914 ciliary dyskinesia, primary, 44 MONDO:0016575 DOID:0111851 DOID:9562 primary ciliary dyskinesia MONDO:0032917 hearing loss, autosomal dominant 76 MONDO:0019587 DOID:0112167 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0032918 developmental and epileptic encephalopathy, 84 MONDO:0100062 DOID:0112219 DOID:0112202 developmental and epileptic encephalopathy MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 MONDO:0015244 DOID:0070409 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0032924 ciliary dyskinesia, primary, 45 MONDO:0016575 DOID:0111857 DOID:9562 primary ciliary dyskinesia MONDO:0032932 mitochondrial DNA depletion syndrome 18 MONDO:0018158 DOID:0070449 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:0019952 DOID:0081343 DOID:0081337 congenital myopathy MONDO:0032937 myopathy, congenital proximal, with minicore lesions MONDO:0019952 DOID:0081344 DOID:0081337 congenital myopathy MONDO:0032940 retinitis pigmentosa 88 MONDO:0019200 DOID:0112145 DOID:10584 retinitis pigmentosa MONDO:0033004 polycystic kidney disease 4 MONDO:0009889 DOID:0080212 DOID:0110861 autosomal recessive polycystic kidney disease MONDO:0033005 Galloway-Mowat syndrome 1 MONDO:0009627 DOID:0060364 DOID:0080694 Galloway-Mowat syndrome MONDO:0033006 Galloway-Mowat syndrome 2, X-linked MONDO:0009627 DOID:0080244 DOID:0080694 Galloway-Mowat syndrome MONDO:0033007 Galloway-Mowat syndrome 3 MONDO:0009627 DOID:0080245 DOID:0080694 Galloway-Mowat syndrome MONDO:0033008 Galloway-Mowat syndrome 4 MONDO:0009627 DOID:0080246 DOID:0080694 Galloway-Mowat syndrome MONDO:0033009 Galloway-Mowat syndrome 5 MONDO:0009627 DOID:0080247 DOID:0080694 Galloway-Mowat syndrome MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 MONDO:0017851 DOID:0111195 DOID:0050467 erythrokeratodermia variabilis MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 MONDO:0017851 DOID:0080248 DOID:0050467 erythrokeratodermia variabilis MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 MONDO:0017851 DOID:0080249 DOID:0050467 erythrokeratodermia variabilis MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 MONDO:0017851 DOID:0080250 DOID:0050467 erythrokeratodermia variabilis MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 MONDO:0017851 DOID:0080251 DOID:0050467 erythrokeratodermia variabilis MONDO:0033044 Meckel syndrome 13 MONDO:0018921 DOID:0080253 DOID:0050778 Meckel syndrome MONDO:0033045 orofaciodigital syndrome 16 MONDO:0015375 DOID:0080254 DOID:4501 orofaciodigital syndrome MONDO:0033046 Meier-Gorlin syndrome 8 MONDO:0016817 DOID:0080255 DOID:0060306 Meier-Gorlin syndrome MONDO:0033047 Perrault syndrome 6 MONDO:0017312 DOID:0080256 DOID:0050857 Perrault syndrome MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 MONDO:0017265 DOID:0080258 DOID:0060655 autosomal recessive congenital ichthyosis MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 MONDO:0017265 DOID:0080257 DOID:0060655 autosomal recessive congenital ichthyosis MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 MONDO:0015244 DOID:0080259 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 MONDO:0015244 DOID:0080260 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0033123 exudative vitreoretinopathy 7 MONDO:0019516 DOID:0080264 DOID:0050535 exudative vitreoretinopathy MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:0000426 DOID:0111560 DOID:0050736 autosomal dominant disease MONDO:0033198 hearing loss, autosomal recessive 106 MONDO:0019588 DOID:0080261 DOID:0050565 hearing loss, autosomal recessive MONDO:0033199 hearing loss, autosomal recessive 107 MONDO:0019588 DOID:0080262 DOID:0050565 hearing loss, autosomal recessive MONDO:0033200 hearing loss, autosomal recessive 108 MONDO:0019588 DOID:0080263 DOID:0050565 hearing loss, autosomal recessive MONDO:0033201 hearing loss, autosomal recessive 57 MONDO:0019588 DOID:0111635 DOID:0050565 hearing loss, autosomal recessive MONDO:0033202 hearing loss, autosomal recessive 109 MONDO:0019588 DOID:0111639 DOID:0050565 hearing loss, autosomal recessive MONDO:0033203 nephrotic syndrome 14 MONDO:0002350 DOID:0080265 DOID:2590 familial nephrotic syndrome MONDO:0033204 ciliary dyskinesia, primary, 37 MONDO:0016575 DOID:0080266 DOID:9562 primary ciliary dyskinesia MONDO:0033258 hearing loss, autosomal dominant 71 MONDO:0019587 DOID:0080267 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0033259 hearing loss, autosomal dominant 72 MONDO:0019587 DOID:0080268 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0033260 hearing loss, autosomal dominant 73 MONDO:0019587 DOID:0080269 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation MONDO:0019587 DOID:0080270 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0033262 nephrotic syndrome 15 MONDO:0002350 DOID:0080271 DOID:2590 familial nephrotic syndrome MONDO:0033280 nephrotic syndrome 16 MONDO:0002350 DOID:0080272 DOID:2590 familial nephrotic syndrome MONDO:0033281 polycystic kidney disease 5 MONDO:0009889 DOID:0080273 DOID:0110861 autosomal recessive polycystic kidney disease MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0017338 DOID:0080274 DOID:0070330 fatal multiple mitochondrial dysfunctions syndrome MONDO:0033304 nonsyndromic deafness, Y-linked MONDO:0000428 DOID:0111757 DOID:0050738 Y-linked disease MONDO:0033304 nonsyndromic deafness, Y-linked MONDO:0019497 DOID:0111757 DOID:0050563 nonsyndromic genetic hearing loss MONDO:0033308 Joubert syndrome 30 MONDO:0018772 DOID:0080275 DOID:0050777 Joubert syndrome MONDO:0033309 Joubert syndrome 32 MONDO:0018772 DOID:0080278 DOID:0050777 Joubert syndrome MONDO:0033310 Joubert syndrome 31 MONDO:0018772 DOID:0080277 DOID:0050777 Joubert syndrome MONDO:0033311 Joubert syndrome 33 MONDO:0018772 DOID:0080279 DOID:0050777 Joubert syndrome MONDO:0033312 schizophrenia 19 MONDO:0005090 DOID:0080281 DOID:5419 schizophrenia MONDO:0033361 developmental and epileptic encephalopathy, 52 MONDO:0100062 DOID:0080455 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033362 developmental and epileptic encephalopathy, 53 MONDO:0100062 DOID:0080464 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033363 developmental and epileptic encephalopathy, 54 MONDO:0100062 DOID:0080418 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033364 developmental and epileptic encephalopathy, 55 MONDO:0100062 DOID:0080283 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033365 developmental and epileptic encephalopathy, 56 MONDO:0100062 DOID:0080282 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033366 developmental and epileptic encephalopathy, 57 MONDO:0100062 DOID:0080284 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033367 developmental and epileptic encephalopathy, 58 MONDO:0100062 DOID:0080285 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033368 developmental and epileptic encephalopathy, 59 MONDO:0100062 DOID:0080291 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033369 developmental and epileptic encephalopathy, 60 MONDO:0100062 DOID:0080432 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033370 developmental and epileptic encephalopathy, 61 MONDO:0100062 DOID:0080434 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033371 developmental and epileptic encephalopathy, 62 MONDO:0100062 DOID:0080420 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033372 developmental and epileptic encephalopathy, 63 MONDO:0100062 DOID:0080426 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033373 developmental and epileptic encephalopathy, 64 MONDO:0100062 DOID:0070375 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033374 developmental and epileptic encephalopathy, 65 MONDO:0100062 DOID:0080430 DOID:0112202 developmental and epileptic encephalopathy MONDO:0033375 orofaciodigital syndrome 17 MONDO:0015375 DOID:0080289 DOID:4501 orofaciodigital syndrome MONDO:0033479 spinocerebellar ataxia 44 MONDO:0020380 DOID:0080286 DOID:1441 autosomal dominant cerebellar ataxia MONDO:0033482 spinocerebellar ataxia 47 MONDO:0020380 DOID:0111743 DOID:1441 autosomal dominant cerebellar ataxia MONDO:0033483 erythrocytosis, familial, 5 MONDO:0001115 DOID:0080290 DOID:10780 familial polycythemia MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly MONDO:0018770 DOID:0080295 DOID:0050592 Jeune syndrome MONDO:0033486 leukodystrophy, hypomyelinating, 14 MONDO:0019046 DOID:0080296 DOID:0060786 leukodystrophy MONDO:0033493 fibromatosis, gingival, 5 MONDO:0016070 DOID:0080280 DOID:0060466 hereditary gingival fibromatosis MONDO:0033533 combined oxidative phosphorylation deficiency 45 MONDO:0000732 DOID:0112113 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0033534 combined oxidative phosphorylation deficiency 46 MONDO:0000732 DOID:0112115 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0033537 combined oxidative phosphorylation deficiency 47 MONDO:0000732 DOID:0112114 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0033545 mitochondrial DNA depletion syndrome 19 MONDO:0018158 DOID:0070450 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0019952 DOID:0081349 DOID:0081337 congenital myopathy MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 MONDO:0000172 DOID:0112376 DOID:0112375 muscular dystrophy-dystroglycanopathy, type B MONDO:0033563 retinitis pigmentosa 90 MONDO:0019200 DOID:0112147 DOID:10584 retinitis pigmentosa MONDO:0033566 combined oxidative phosphorylation deficiency 48 MONDO:0000732 DOID:0112112 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0019064 DOID:0112346 DOID:2476 hereditary spastic paraplegia MONDO:0033615 coenzyme q10 deficiency, primary, 9 MONDO:0018151 DOID:0112138 DOID:0050730 coenzyme Q10 deficiency MONDO:0033620 myofibrillar myopathy 10 MONDO:0018943 DOID:0112108 DOID:0080307 myofibrillar myopathy MONDO:0033622 spermatogenic failure 44 MONDO:0004983 DOID:0112109 DOID:0111910 spermatogenic failure MONDO:0033631 combined oxidative phosphorylation deficiency 51 MONDO:0000732 DOID:0112137 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0033643 inflammatory bowel disease 30 MONDO:0005265 DOID:0112154 DOID:0050589 inflammatory bowel disease MONDO:0033657 leukodystrophy, hypomyelinating, 20 MONDO:0019046 DOID:0112153 DOID:0060786 leukodystrophy MONDO:0033665 hearing loss, autosomal dominant 78 MONDO:0019587 DOID:0112159 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0033668 hearing loss, autosomal dominant 79 MONDO:0019587 DOID:0112160 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0033669 Noonan syndrome 13 MONDO:0018997 DOID:0112161 DOID:3490 Noonan syndrome MONDO:0033670 hearing loss, autosomal recessive 116 MONDO:0019588 DOID:0112162 DOID:0050565 hearing loss, autosomal recessive MONDO:0033671 spermatogenic failure 45 MONDO:0004983 DOID:0112163 DOID:0111910 spermatogenic failure MONDO:0033673 spermatogenic failure 46 MONDO:0004983 DOID:0112164 DOID:0111910 spermatogenic failure MONDO:0033946 hereditary angioedema with C1Inh deficiency MONDO:0019623 DOID:0080939 DOID:14735 hereditary angioedema MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0100062 DOID:0112209 DOID:0112202 developmental and epileptic encephalopathy MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers MONDO:0006025 DOID:0081346 DOID:0050737 autosomal recessive disease MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers MONDO:0019952 DOID:0081346 DOID:0081337 congenital myopathy MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0018874 DOID:0080976 DOID:9119 acute myeloid leukemia MONDO:0036482 retinitis pigmentosa 81 MONDO:0019200 DOID:0080292 DOID:10584 retinitis pigmentosa MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly MONDO:0018770 DOID:0080293 DOID:0050592 Jeune syndrome MONDO:0036484 Charcot-Marie-Tooth disease, dominant intermediate G MONDO:0018778 DOID:0080294 DOID:0050543 intermediate Charcot-Marie-Tooth disease MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 MONDO:0019502 DOID:0081223 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 MONDO:0020066 DOID:0080728 DOID:13359 Ehlers-Danlos syndrome MONDO:0040503 blepharocheilodontic syndrome 2 MONDO:0007339 DOID:0080346 DOID:0080344 blepharocheilodontic syndrome MONDO:0042486 polyposis syndrome, hereditary mixed, 1 MONDO:0011023 DOID:0111685 DOID:0111684 hereditary mixed polyposis syndrome MONDO:0042487 uterine cervix carcinoma in situ MONDO:0004710 DOID:8991 DOID:9108 uterus carcinoma in situ MONDO:0042499 benign familial neonatal-infantile seizures 1 MONDO:0017615 DOID:0081114 DOID:0060169 benign familial infantile epilepsy MONDO:0042981 aortic valve stenosis MONDO:0003803 DOID:1712 DOID:62 aortic valve disorder MONDO:0044299 myasthenic syndrome, congenital, 22 MONDO:0018940 DOID:0080587 DOID:3635 congenital myasthenic syndrome MONDO:0044300 familial adenomatous polyposis 4 MONDO:0021055 DOID:0080412 DOID:0050424 classic familial adenomatous polyposis MONDO:0044305 ectodermal dysplasia 13, hair/tooth type MONDO:0019287 DOID:0111650 DOID:2121 ectodermal dysplasia syndrome MONDO:0044308 bardet-biedl syndrome 21 MONDO:0015229 DOID:0081010 DOID:1935 Bardet-Biedl syndrome MONDO:0044309 Diamond-Blackfan anemia 16 MONDO:0015253 DOID:0111893 DOID:1339 Diamond-Blackfan anemia MONDO:0044310 Diamond-Blackfan anemia 17 MONDO:0015253 DOID:0111880 DOID:1339 Diamond-Blackfan anemia MONDO:0044313 intellectual disability, autosomal recessive 60 MONDO:0019502 DOID:0081222 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0044325 Fanconi anemia, complementation group W MONDO:0019391 DOID:0060978 DOID:13636 Fanconi anemia MONDO:0044327 polycystic liver disease 4 with or without kidney cysts MONDO:0000447 DOID:0060977 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0044330 hyperekplexia 4 MONDO:0021022 DOID:0080581 DOID:0060695 hereditary hyperekplexia MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO:0002254 DOID:0081175 DOID:225 syndromic disease MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0017359 DOID:0070000 DOID:0060336 3-methylglutaconic aciduria MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0017359 DOID:0070002 DOID:0060336 3-methylglutaconic aciduria MONDO:0044725 combined immunodeficiency due to GINS1 deficiency MONDO:0015131 DOID:0111993 DOID:0111962 combined immunodeficiency MONDO:0044767 childhood adrenal gland pheochromocytoma MONDO:0004974 DOID:0070325 DOID:0050892 adrenal gland pheochromocytoma MONDO:0044923 acute myeloid leukemia with mutated NPM1 MONDO:0018874 DOID:0081089 DOID:9119 acute myeloid leukemia MONDO:0045059 cribriform carcinoma of breast MONDO:0004989 DOID:5675 DOID:3459 breast carcinoma MONDO:0049222 intellectual disability, X-linked 107 MONDO:0019181 DOID:0112054 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0005501 DOID:0070269 DOID:0050571 congenital disorder of glycosylation type II MONDO:0054560 anauxetic dysplasia 1 MONDO:0011773 DOID:0050640 DOID:0080942 anauxetic dysplasia MONDO:0054561 anauxetic dysplasia 2 MONDO:0011773 DOID:0080962 DOID:0080942 anauxetic dysplasia MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 MONDO:0011899 DOID:0080693 DOID:0080691 Noonan syndrome-like disorder with loose anagen hair MONDO:0054615 spermatogenic failure 18 MONDO:0004983 DOID:0070165 DOID:0111910 spermatogenic failure MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 MONDO:0011899 DOID:0080692 DOID:0080691 Noonan syndrome-like disorder with loose anagen hair MONDO:0054654 combined oxidative phosphorylation deficiency 32 MONDO:0000732 DOID:0111492 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054666 ovarian dysgenesis 5 MONDO:0009299 DOID:0080497 DOID:14450 46 XX gonadal dysgenesis MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:0020135 DOID:0112324 DOID:0060264 pontocerebellar hypoplasia MONDO:0054677 combined oxidative phosphorylation deficiency 33 MONDO:0000732 DOID:0111495 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054680 epiphyseal dysplasia, multiple, 7 MONDO:0016648 DOID:0070302 DOID:12721 multiple epiphyseal dysplasia MONDO:0054691 immunodeficiency, common variable, 14 MONDO:0015517 DOID:0081156 DOID:12177 common variable immunodeficiency MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 MONDO:0009726 DOID:0060916 DOID:0060913 proteosome-associated autoinflammatory syndrome MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 MONDO:0009726 DOID:0060914 DOID:0060913 proteosome-associated autoinflammatory syndrome MONDO:0054701 Kleefstra syndrome 2 MONDO:0012455 DOID:0080598 DOID:0080597 Kleefstra syndrome MONDO:0054716 microcephaly 19, primary, autosomal recessive MONDO:0016660 DOID:0070281 DOID:0070296 autosomal recessive primary microcephaly MONDO:0054722 geleophysic dysplasia 3 MONDO:0000127 DOID:0111727 DOID:0111724 geleophysic dysplasia MONDO:0054723 spermatogenic failure 19 MONDO:0004983 DOID:0070170 DOID:0111910 spermatogenic failure MONDO:0054724 spermatogenic failure 20 MONDO:0004983 DOID:0070166 DOID:0111910 spermatogenic failure MONDO:0054726 spermatogenic failure 22 MONDO:0004983 DOID:0070177 DOID:0111910 spermatogenic failure MONDO:0054727 spermatogenic failure 23 MONDO:0004983 DOID:0070181 DOID:0111910 spermatogenic failure MONDO:0054728 spermatogenic failure 24 MONDO:0004983 DOID:0111929 DOID:0111910 spermatogenic failure MONDO:0054729 spermatogenic failure 25 MONDO:0004983 DOID:0111920 DOID:0111910 spermatogenic failure MONDO:0054731 spermatogenic failure 27 MONDO:0004983 DOID:0111928 DOID:0111910 spermatogenic failure MONDO:0054732 spermatogenic failure 28 MONDO:0004983 DOID:0111916 DOID:0111910 spermatogenic failure MONDO:0054733 spermatogenic failure 29 MONDO:0004983 DOID:0111930 DOID:0111910 spermatogenic failure MONDO:0054736 mosaic variegated aneuploidy syndrome 3 MONDO:0000141 DOID:0080689 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0054737 Fraser syndrome 1 MONDO:0009046 DOID:0111405 DOID:0090001 Fraser syndrome MONDO:0054738 Fraser syndrome 2 MONDO:0009046 DOID:0111407 DOID:0090001 Fraser syndrome MONDO:0054739 Fraser syndrome 3 MONDO:0009046 DOID:0111406 DOID:0090001 Fraser syndrome MONDO:0054740 blepharocheilodontic syndrome 1 MONDO:0007339 DOID:0080345 DOID:0080344 blepharocheilodontic syndrome MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0000732 DOID:0111497 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0000732 DOID:0111464 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054743 polycystic liver disease 3 with or without kidney cysts MONDO:0000447 DOID:0060976 DOID:0050770 autosomal dominant polycystic liver disease MONDO:0054748 Fanconi anemia, complementation group S MONDO:0019391 DOID:0060979 DOID:13636 Fanconi anemia MONDO:0054752 multiple synostoses syndrome 4 MONDO:0017923 DOID:0081320 DOID:0050794 multiple synostoses syndrome MONDO:0054770 orofaciodigital syndrome 18 MONDO:0015375 DOID:0060961 DOID:4501 orofaciodigital syndrome MONDO:0054776 epilepsy, familial focal, with variable foci 4 MONDO:0020310 DOID:0081424 DOID:0081420 familial focal epilepsy with variable foci MONDO:0054781 combined oxidative phosphorylation deficiency 36 MONDO:0000732 DOID:0111482 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054782 leukodystrophy, hypomyelinating, 15 MONDO:0019046 DOID:0070398 DOID:0060786 leukodystrophy MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0017338 DOID:0070332 DOID:0070330 fatal multiple mitochondrial dysfunctions syndrome MONDO:0054791 leukodystrophy, hypomyelinating, 16 MONDO:0019046 DOID:0070405 DOID:0060786 leukodystrophy MONDO:0054801 erythrocytosis, familial, 6 MONDO:0001115 DOID:0111632 DOID:10780 familial polycythemia MONDO:0054802 erythrocytosis, familial, 7 MONDO:0001115 DOID:0111631 DOID:10780 familial polycythemia MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 MONDO:0006025 DOID:0080732 DOID:0050737 autosomal recessive disease MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 MONDO:0020066 DOID:0080732 DOID:13359 Ehlers-Danlos syndrome MONDO:0054817 leukodystrophy, hypomyelinating, 17 MONDO:0019046 DOID:0070404 DOID:0060786 leukodystrophy MONDO:0054831 Coffin-Siris syndrome 7 MONDO:0015452 DOID:0112369 DOID:1925 Coffin-Siris syndrome MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 MONDO:0020364 DOID:0080669 DOID:0060457 posterior polymorphous corneal dystrophy MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0000426 DOID:0111558 DOID:0050736 autosomal dominant disease MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0018993 DOID:0111558 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0054835 classic dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070489 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease MONDO:0004691 DOID:0060951 DOID:898 autosomal dominant polycystic kidney disease MONDO:0054843 ciliary dyskinesia, primary, 38 MONDO:0016575 DOID:0111852 DOID:9562 primary ciliary dyskinesia MONDO:0054845 developmental and epileptic encephalopathy, 66 MONDO:0100062 DOID:0080446 DOID:0112202 developmental and epileptic encephalopathy MONDO:0054846 epilepsy, familial adult myoclonic, 6 MONDO:0000160 DOID:0111696 DOID:0111689 epilepsy, familial adult myoclonic MONDO:0054847 epilepsy, familial adult myoclonic, 7 MONDO:0000160 DOID:0111694 DOID:0111689 epilepsy, familial adult myoclonic MONDO:0054849 inflammatory bowel disease 29 MONDO:0005265 DOID:0112155 DOID:0050589 inflammatory bowel disease MONDO:0054850 ovarian dysgenesis 6 MONDO:0009299 DOID:0080498 DOID:14450 46 XX gonadal dysgenesis MONDO:0054852 peeling skin syndrome 6 MONDO:0019347 DOID:0070525 DOID:0060283 peeling skin syndrome MONDO:0054860 hearing loss, autosomal recessive 110 MONDO:0019588 DOID:0111644 DOID:0050565 hearing loss, autosomal recessive MONDO:0054861 intellectual disability, autosomal recessive 63 MONDO:0019502 DOID:0081224 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0056796 obstructive nephropathy MONDO:0005240 DOID:0070314 DOID:557 kidney disorder MONDO:0056804 benign neoplasm of peripheral nervous system MONDO:0000628 DOID:0080320 DOID:0060090 central nervous system organ benign neoplasm MONDO:0056806 non-small cell squamous lung carcinoma MONDO:0005233 DOID:0080521 DOID:3908 non-small cell lung carcinoma MONDO:0060455 X-linked congenital hemolytic anemia MONDO:0003689 DOID:0111846 DOID:589 familial hemolytic anemia MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MONDO:0015168 DOID:0080978 DOID:0080954 arthrogryposis multiplex congenita MONDO:0060489 46,XX sex reversal 4 MONDO:0100249 DOID:0111764 DOID:0111760 46,XX testicular disorder of sex development MONDO:0060585 neuronopathy, distal hereditary motor, type 9 MONDO:0015362 DOID:0111212 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0060592 Sweeney-Cox syndrome MONDO:0002254 DOID:0080538 DOID:225 syndromic disease MONDO:0060631 Alkuraya-Kucinskas syndrome MONDO:0002254 DOID:0111555 DOID:225 syndromic disease MONDO:0060732 tetraamelia syndrome 2 MONDO:0010110 DOID:0112193 DOID:0112191 tetraamelia-multiple malformations syndrome MONDO:0060764 tetraamelia syndrome 1 MONDO:0010110 DOID:0112192 DOID:0112191 tetraamelia-multiple malformations syndrome MONDO:0100063 Pericytoma with t(7;12) MONDO:0002604 DOID:0080896 DOID:3316 pericytic neoplasm MONDO:0100082 LEOPARD syndrome 1 MONDO:0007893 DOID:0080548 DOID:14291 Noonan syndrome with multiple lentigines MONDO:0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0006025 DOID:0070352 DOID:0050737 autosomal recessive disease MONDO:0100096 COVID-19 MONDO:0020753 DOID:0080600 DOID:0080599 Orthocoronavirinae infectious disease MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0008824 DOID:0111377 DOID:0111375 fetal akinesia deformation sequence MONDO:0100102 fetal akinesia deformation sequence 2 MONDO:0008824 DOID:0111378 DOID:0111375 fetal akinesia deformation sequence MONDO:0100103 fetal akinesia deformation sequence 3 MONDO:0008824 DOID:0111376 DOID:0111375 fetal akinesia deformation sequence MONDO:0100104 fetal akinesia deformation sequence 4 MONDO:0008824 DOID:0111379 DOID:0111375 fetal akinesia deformation sequence MONDO:0100105 brain small vessel disease 3 MONDO:0020496 DOID:0112315 DOID:0112313 familial porencephaly MONDO:0100115 acute flaccid myelitis MONDO:0002565 DOID:0080947 DOID:322 myelitis MONDO:0100116 Middle East respiratory syndrome MONDO:0020753 DOID:0080642 DOID:0080599 Orthocoronavirinae infectious disease MONDO:0100135 Dravet syndrome MONDO:0100062 DOID:0080422 DOID:0112202 developmental and epileptic encephalopathy MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0016391 DOID:0060639 DOID:11717 neonatal diabetes mellitus MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0006025 DOID:0080836 DOID:0050737 autosomal recessive disease MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0020605 DOID:0111821 DOID:0080012 X-linked recessive disease MONDO:0100216 DICER1-related tumor predisposition MONDO:0002254 DOID:0081063 DOID:225 syndromic disease MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 MONDO:0031632 DOID:0070478 DOID:0070476 developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0100218 arthrogryposis multiplex congenita 5 MONDO:0015168 DOID:0080981 DOID:0080954 arthrogryposis multiplex congenita MONDO:0100223 mitochondrial complex I deficiency, nuclear type MONDO:0100133 DOID:0112065 DOID:0060536 mitochondrial complex I deficiency MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 MONDO:0100223 DOID:0112074 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0003656 DOID:0060284 DOID:582 hemoglobinuria MONDO:0100250 46,XX sex reversal 1 MONDO:0100249 DOID:0111761 DOID:0111760 46,XX testicular disorder of sex development MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0019052 DOID:0111063 DOID:655 inborn errors of metabolism MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0002254 DOID:5325 DOID:225 syndromic disease MONDO:0100253 Roberts-SC phocomelia syndrome MONDO:0006025 DOID:5325 DOID:0050737 autosomal recessive disease MONDO:0100255 adenosine kinase deficiency MONDO:0000351 DOID:0111038 DOID:0050544 disorder of methionine catabolism MONDO:0100296 Olmsted syndrome 1 MONDO:0031421 DOID:0112013 DOID:0112011 Olmsted syndrome MONDO:0100313 focal segmental glomerulosclerosis MONDO:0000490 DOID:1312 DOID:0050851 glomerulosclerosis MONDO:0100338 urinary tract infection MONDO:0002118 DOID:0080784 DOID:18 urinary system disorder MONDO:0100340 Friedreich ataxia 1 MONDO:0100339 DOID:0111218 DOID:12705 Friedreich ataxia MONDO:0100344 Bartter disease type 1 MONDO:0015231 DOID:0110142 DOID:445 Bartter syndrome MONDO:0100345 lactose intolerance MONDO:0019214 DOID:10604 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0100350 neuronopathy, distal hereditary motor, type 5 MONDO:0015362 DOID:0111203 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) MONDO:0018874 DOID:0081080 DOID:9119 acute myeloid leukemia MONDO:0100404 acute myeloid leukemia, MLL gene rearrangement MONDO:0018874 DOID:0081094 DOID:9119 acute myeloid leukemia MONDO:0100409 acute myeloid leukemia, t(3;5)(q25;q34) MONDO:0018874 DOID:0081092 DOID:9119 acute myeloid leukemia MONDO:0100413 acute myeloid leukemia, biallelic CEBPA gene mutation MONDO:0018874 DOID:0081090 DOID:9119 acute myeloid leukemia MONDO:0100422 acute myeloid leukemia, RUNX1 gene mutation MONDO:0018874 DOID:0081091 DOID:9119 acute myeloid leukemia MONDO:0100428 progressive bulbar palsy of childhood MONDO:0008890 DOID:0080632 DOID:681 progressive bulbar palsy MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0019072 DOID:0070227 DOID:1852 intrahepatic cholestasis MONDO:0100431 migraine without aura MONDO:0005277 DOID:12783 DOID:6364 migraine disorder MONDO:0100436 cataract 2, multiple types MONDO:0005129 DOID:0110235 DOID:83 cataract MONDO:0100452 RPE65-related dominant retinopathy MONDO:0000426 DOID:0112144 DOID:0050736 autosomal dominant disease MONDO:0100459 azoospermia MONDO:0005372 DOID:14227 DOID:12336 male infertility MONDO:0100510 spondyloepimetaphyseal dysplasia MONDO:0005516 DOID:0080027 DOID:2256 osteochondrodysplasia MONDO:0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) MONDO:0004947 DOID:0080649 DOID:0080630 B-cell acute lymphoblastic leukemia MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 DOID:0060748 DOID:3328 temporal lobe epilepsy MONDO:0700117 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0005395 DOID:0070487 DOID:480 movement disorder MONDO:0700200 atypical dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070488 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 DOID:0081358 DOID:4603 epidermolytic ichthyosis MONDO:0700251 orofacial cleft 7 MONDO:0000358 DOID:0080400 DOID:0050567 orofacial cleft MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 DOID:0080698 DOID:0081073 Teebi hypertelorism syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0001292 DOID:0060731 DOID:11465 autonomic nervous system disorder MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 DOID:0080523 DOID:10579 leukodystrophy MONDO:0800042 restrictive dermopathy 1 MONDO:0031213 DOID:0070369 DOID:0060762 restrictive dermopathy MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0015780 DOID:0070020 DOID:2729 dyskeratosis congenita MONDO:0800372 Joubert syndrome 29 MONDO:0018772 DOID:0080276 DOID:0050777 Joubert syndrome MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 DOID:0081124 DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0031632 DOID:0070477 DOID:0070476 developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0800448 leukoencephalopathy with vanishing white matter MONDO:0019046 DOID:0060868 DOID:10579 leukodystrophy MONDO:0800449 lysosomal acid lipase deficiency MONDO:0019245 DOID:0080217 DOID:9455 lysosomal lipid storage disorder MONDO:0850092 post-cardiac arrest syndrome MONDO:0002254 DOID:0070306 DOID:225 syndromic disease MONDO:0850098 oligoasthenoteratozoospermia MONDO:0005372 DOID:0070311 DOID:12336 male infertility MONDO:0850101 spitzoid melanoma MONDO:0005012 DOID:0070326 DOID:8923 cutaneous melanoma MONDO:0850110 melanoma in congenital melanocytic nevus MONDO:0005012 DOID:0070327 DOID:8923 cutaneous melanoma MONDO:0850112 breast implant-associated anaplastic large cell lymphoma MONDO:0000430 DOID:0070333 DOID:0050749 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0850122 solid adenocarcinoma with mucin production MONDO:0005061 DOID:0080306 DOID:3910 lung adenocarcinoma MONDO:0850123 autonomic nervous system benign neoplasm MONDO:0056804 DOID:0080321 DOID:0080320 benign neoplasm of peripheral nervous system MONDO:0850125 malignant adenoma MONDO:0004992 DOID:0080364 DOID:0050687 cancer MONDO:0850127 epithelioid inflammatory myofibroblastic sarcoma MONDO:0015798 DOID:0080372 DOID:0050905 inflammatory myofibroblastic tumor MONDO:0850128 epididymis disease MONDO:0003150 DOID:0080373 DOID:48 male reproductive system disorder MONDO:0850129 gastroesophageal cancer MONDO:0002516 DOID:0080374 DOID:3119 digestive system cancer MONDO:0850130 gastroesophageal adenocarcinoma MONDO:0004970 DOID:0080375 DOID:299 adenocarcinoma MONDO:0850144 germ cell benign neoplasm MONDO:0005165 DOID:0080601 DOID:0060084 benign neoplasm MONDO:0850149 nephroma MONDO:0002513 DOID:0080615 DOID:3116 kidney benign neoplasm MONDO:0850150 kidney cortex disease MONDO:0005240 DOID:0080616 DOID:557 kidney disorder MONDO:0850151 lymph node carcinoma MONDO:0001082 DOID:0080618 DOID:10619 lymph node cancer MONDO:0850151 lymph node carcinoma MONDO:0004993 DOID:0080618 DOID:305 carcinoma MONDO:0850152 auditory system benign neoplasm MONDO:0000633 DOID:0080619 DOID:0060096 sensory organ benign neoplasm MONDO:0850152 auditory system benign neoplasm MONDO:0002409 DOID:0080619 DOID:2742 auditory system disorder MONDO:0850154 tongue carcinoma MONDO:0004631 DOID:0080641 DOID:8649 tongue cancer MONDO:0850156 B-lymphoblastic leukemia/lymphoma MLL rearranged MONDO:0004947 DOID:0080644 DOID:0080630 B-cell acute lymphoblastic leukemia MONDO:0850157 B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 MONDO:0004947 DOID:0080645 DOID:0080630 B-cell acute lymphoblastic leukemia MONDO:0850160 B-lymphoblastic leukemia/lymphoma with IL3-IGH MONDO:0004947 DOID:0080648 DOID:0080630 B-cell acute lymphoblastic leukemia MONDO:0850161 B-lymphoblastic leukemia/lymphoma, BCR-ABL1–like MONDO:0004947 DOID:0080650 DOID:0080630 B-cell acute lymphoblastic leukemia MONDO:0850162 B-lymphoblastic leukemia/lymphoma with IAMP21 MONDO:0004947 DOID:0080651 DOID:0080630 B-cell acute lymphoblastic leukemia MONDO:0850196 medulloblastoma WNT activated MONDO:0007959 DOID:0080702 DOID:0050902 medulloblastoma MONDO:0850197 medulloblastoma SHH activated MONDO:0007959 DOID:0080703 DOID:0050902 medulloblastoma MONDO:0850198 medulloblastoma non-WNT/non-SHH MONDO:0007959 DOID:0080706 DOID:0050902 medulloblastoma MONDO:0850199 NK cell deficiency MONDO:0003778 DOID:0080709 DOID:612 inborn error of immunity MONDO:0850200 T cell and NK cell immunodeficiency MONDO:0003778 DOID:0080710 DOID:612 inborn error of immunity MONDO:0850201 hereditary alpha tryptasemia syndrome MONDO:0002254 DOID:0080714 DOID:225 syndromic disease MONDO:0850223 Libman-Sacks endocarditis MONDO:0000603 DOID:0080740 DOID:0060051 autoimmune disorder of cardiovascular system MONDO:0850223 Libman-Sacks endocarditis MONDO:0005025 DOID:0080740 DOID:10314 endocarditis MONDO:0850225 autoimmune cholangitis MONDO:0016264 DOID:0080742 DOID:2048 autoimmune hepatitis MONDO:0850230 chronic urticaria MONDO:0005492 DOID:0080747 DOID:1555 urticaria MONDO:0850231 erythema nodosum MONDO:0006591 DOID:0080750 DOID:1526 panniculitis MONDO:0850257 mucinous pancreas adenocarcinoma MONDO:0004957 DOID:0080782 DOID:3030 mucinous adenocarcinoma MONDO:0850257 mucinous pancreas adenocarcinoma MONDO:0006047 DOID:0080782 DOID:4074 pancreatic adenocarcinoma MONDO:0850267 childhood acute megakaryoblastic leukemia MONDO:0018872 DOID:0080794 DOID:8761 acute megakaryoblastic leukemia MONDO:0850269 core binding factor acute myeloid leukemia MONDO:0018874 DOID:0080796 DOID:9119 acute myeloid leukemia MONDO:0850271 myeloid leukemia associated with down syndrome MONDO:0018872 DOID:0080798 DOID:8761 acute megakaryoblastic leukemia MONDO:0850273 salivary gland mucinous adenocarcinoma MONDO:0000521 DOID:0080800 DOID:0050904 salivary gland carcinoma MONDO:0850273 salivary gland mucinous adenocarcinoma MONDO:0004957 DOID:0080800 DOID:3030 mucinous adenocarcinoma MONDO:0850281 mammary analog secretory carcinoma MONDO:0000521 DOID:0080808 DOID:0050904 salivary gland carcinoma MONDO:0850282 chronic asthma MONDO:0004979 DOID:0080809 DOID:2841 asthma MONDO:0850283 acute asthma MONDO:0004979 DOID:0080810 DOID:2841 asthma MONDO:0850284 extrinsic asthma MONDO:0850282 DOID:0080811 DOID:0080809 chronic asthma MONDO:0850285 environmental induced asthma MONDO:0004765 DOID:0080819 DOID:9360 intrinsic asthma MONDO:0850286 exercise-induced bronchoconstriction MONDO:0004765 DOID:0080821 DOID:9360 intrinsic asthma MONDO:0850287 aspirin-induced respiratory disease MONDO:0004765 DOID:0080822 DOID:9360 intrinsic asthma MONDO:0850289 human betaherpesvirus 5 infectious disease MONDO:0005108 DOID:0080827 DOID:934 viral infectious disease MONDO:0850292 subjective cognitive decline MONDO:0002039 DOID:0080831 DOID:1561 cognitive disorder MONDO:0850295 acquired laryngomalacia MONDO:0004382 DOID:0080834 DOID:786 laryngeal disorder MONDO:0850301 pemphigoid MONDO:0019337 DOID:0080841 DOID:8502 autoimmune bullous skin disease MONDO:0850302 intracranial meningioma MONDO:0016642 DOID:0060106 DOID:3565 meningioma MONDO:0850302 intracranial meningioma MONDO:0016642 DOID:0080842 DOID:3565 meningioma MONDO:0850303 supratentorial meningioma MONDO:0016642 DOID:0080843 DOID:3565 meningioma MONDO:0850306 latent autoimmune diabetes in adults MONDO:0005147 DOID:0080846 DOID:9744 type 1 diabetes mellitus MONDO:0850312 anaplastic pleomorphic xanthoastrocytoma MONDO:0021636 DOID:0080854 DOID:3069 astrocytic tumor MONDO:0850332 IDH-mutant anaplastic astrocytoma MONDO:0016684 DOID:0080875 DOID:3078 anaplastic astrocytoma MONDO:0850333 IDH-wildtype anaplastic astrocytoma MONDO:0016684 DOID:0080876 DOID:3078 anaplastic astrocytoma MONDO:0850335 IDH-wildtype glioblastoma MONDO:0018177 DOID:0080878 DOID:3068 glioblastoma MONDO:0850338 spinal ependymoma, MYCN-amplified MONDO:0003473 DOID:0080888 DOID:5503 spinal cord ependymoma MONDO:0850339 posterior fossa ependymoma MONDO:0016700 DOID:0080889 DOID:5074 anaplastic ependymoma MONDO:0850340 supratentorial ependymoma MONDO:0016700 DOID:0080890 DOID:5074 anaplastic ependymoma MONDO:0850345 lung pleomorphic carcinoma MONDO:0003573 DOID:0080899 DOID:5662 pleomorphic carcinoma MONDO:0850346 oral rhabdomyosarcoma MONDO:0005212 DOID:0080900 DOID:3247 rhabdomyosarcoma MONDO:0850346 oral rhabdomyosarcoma MONDO:0005515 DOID:0080900 DOID:8618 oral cavity cancer MONDO:0850347 bladder sarcomatoid transitional cell carcinoma MONDO:0002837 DOID:0080901 DOID:4014 sarcomatoid transitional cell carcinoma MONDO:0850348 bladder small cell carcinoma MONDO:0004986 DOID:0080902 DOID:4007 urinary bladder carcinoma MONDO:0850349 astroblastoma, MN1-altered MONDO:0016707 DOID:0080904 DOID:7305 astroblastoma MONDO:0850353 castration-resistant prostate carcinoma MONDO:0005159 DOID:0080909 DOID:10286 prostate carcinoma MONDO:0850368 immunoglobulin heavy-and-light chain MONDO:0019065 DOID:0080935 DOID:9120 amyloidosis MONDO:0850371 nonobstructive coronary artery disease MONDO:0005010 DOID:0080938 DOID:3393 coronary artery disorder MONDO:0850388 childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered MONDO:0004378 DOID:0080956 DOID:7841 pediatric cerebral ependymoblastoma MONDO:0850416 autoimmune epilepsy MONDO:0000568 DOID:0080994 DOID:0060004 autoimmune disorder of central nervous system MONDO:0850417 tuberculous encephalopathy MONDO:0018076 DOID:0080995 DOID:399 tuberculosis MONDO:0850418 diffuse large B-cell lymphoma activated B-cell type MONDO:0018905 DOID:0080996 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850419 diffuse large B-cell lymphoma germinal center B-cell type MONDO:0018905 DOID:0080997 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850420 acute necrotizing pancreatitis MONDO:0006515 DOID:0080998 DOID:2913 acute pancreatitis MONDO:0850421 acute hemorrhagic pancreatitis MONDO:0006515 DOID:0080999 DOID:2913 acute pancreatitis MONDO:0850445 benign peritoneal solitary fibrous tumor MONDO:0000650 DOID:0081026 DOID:0060117 peritoneal benign neoplasm MONDO:0850449 mixed phenotype acute leukemia with BCR-ABL1 MONDO:0020322 DOID:0081036 DOID:9953 acute biphenotypic leukemia MONDO:0850450 mixed phenotype acute leukemia with MLL rearranged MONDO:0020322 DOID:0081037 DOID:9953 acute biphenotypic leukemia MONDO:0850451 mixed phenotype acute leukemia, B/myeloid MONDO:0020322 DOID:0081038 DOID:9953 acute biphenotypic leukemia MONDO:0850452 mixed phenotype acute leukemia,T/myeloid MONDO:0020322 DOID:0081039 DOID:9953 acute biphenotypic leukemia MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma MONDO:0000607 DOID:0081050 DOID:0060061 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0850461 neurobehavioral disorder with prenatal alcohol exposure MONDO:0000408 DOID:0081052 DOID:0050696 fetal alcohol spectrum disorder MONDO:0850468 BN2 diffuse large B-cell lymphoma MONDO:0018905 DOID:0081064 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850469 EZB diffuse large B-cell lymphoma MONDO:0018905 DOID:0081065 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850470 MCD diffuse large B-cell lymphoma MONDO:0018905 DOID:0081066 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850471 N1 diffuse large B-cell lymphoma MONDO:0018905 DOID:0081067 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850472 ST2 diffuse large B-cell lymphoma MONDO:0018905 DOID:0081068 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850473 A53 diffuse large B-cell lymphoma MONDO:0018905 DOID:0081069 DOID:0050745 diffuse large B-cell lymphoma MONDO:0850492 acute myeloid leukemia, t(8;21)(q22; q22.1) MONDO:0018874 DOID:0081093 DOID:9119 acute myeloid leukemia MONDO:0850495 acute myeloid leukemia, t(1;22)(p13;q13) MONDO:0018874 DOID:0081096 DOID:9119 acute myeloid leukemia MONDO:0850514 inclusion body myopathy and brain white matter abnormalities MONDO:0000426 DOID:0081121 DOID:0050736 autosomal dominant disease MONDO:0850514 inclusion body myopathy and brain white matter abnormalities MONDO:0000507 DOID:0081121 DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0850519 tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia MONDO:0004736 DOID:0081132 DOID:9252 inborn disorder of amino acid metabolism MONDO:0850618 injection anthrax MONDO:0005119 DOID:0081239 DOID:7427 anthrax infection MONDO:0850812 dendritic cell deficiency MONDO:0003778 DOID:0111963 DOID:612 inborn error of immunity MONDO:0851095 KINSSHIP syndrome MONDO:0000426 DOID:0112383 DOID:0050736 autosomal dominant disease MONDO:0851095 KINSSHIP syndrome MONDO:0002254 DOID:0112383 DOID:225 syndromic disease MONDO:0851100 malignant olfactory nerve neoplasm MONDO:0002433 DOID:370 DOID:2815 malignant cranial nerve neoplasm MONDO:0851102 pulmonary artery disease MONDO:0000473 DOID:60001 DOID:0050828 arterial disorder MONDO:0851102 pulmonary artery disease MONDO:0005275 DOID:60001 DOID:850 lung disorder MONDO:0851103 Bartholin's gland disease MONDO:0002263 DOID:60002 DOID:229 female reproductive system disorder MONDO:0851105 cerebrovascular benign neoplasm MONDO:0000629 DOID:60007 DOID:0060091 cardiovascular organ benign neoplasm MONDO:0858910 dropped head syndrome MONDO:0000812 DOID:0060034 DOID:0060564 vertebral column disorder MONDO:0858916 pituitary blastoma MONDO:0002109 DOID:0081244 DOID:1785 pituitary cancer MONDO:0858916 pituitary blastoma MONDO:0005565 DOID:0081244 DOID:0070003 blastoma MONDO:0858917 cauda equina neuroendocrine tumor MONDO:0003164 DOID:0081245 DOID:4847 cauda equina neoplasm MONDO:0858921 EWSR1-negative small round cell tumor MONDO:0006974 DOID:0081249 DOID:3098 small cell sarcoma MONDO:0858926 developmental delay, hypotrophy, and dysmorphic features without moebius syndrome MONDO:0002254 DOID:0081264 DOID:225 syndromic disease MONDO:0858940 infant-type hemispheric glioma MONDO:0021636 DOID:0081278 DOID:3069 astrocytic tumor MONDO:0858944 myxoid glioneuronal tumor MONDO:0000628 DOID:0081285 DOID:0060090 central nervous system organ benign neoplasm MONDO:0858956 diffuse leptomeningeal glioneuronal tumor MONDO:0000628 DOID:0081302 DOID:0060090 central nervous system organ benign neoplasm MONDO:0858957 multinodular and vacuolating neuronal tumor MONDO:0000628 DOID:0081303 DOID:0060090 central nervous system organ benign neoplasm MONDO:0858958 high-grade astrocytoma with piloid features MONDO:0016684 DOID:0081304 DOID:3078 anaplastic astrocytoma MONDO:0858959 polymorphous low grade neuroepithelial tumor of the young MONDO:0000628 DOID:0081305 DOID:0060090 central nervous system organ benign neoplasm MONDO:0858960 spindle cell oncocytoma MONDO:0003257 DOID:0081306 DOID:5048 posterior pituitary gland neoplasm MONDO:0858966 central nervous system tumor with bcor internal tandem duplication MONDO:0000640 DOID:0081315 DOID:0060103 central nervous system primitive neuroectodermal neoplasm MONDO:0858967 primary intracranial sarcoma, DICER1-mutant MONDO:0002216 DOID:0081316 DOID:2132 brain sarcoma MONDO:0858974 breast implant illness MONDO:0002254 DOID:0081323 DOID:225 syndromic disease MONDO:0858974 breast implant illness MONDO:0002657 DOID:0081323 DOID:3463 breast disorder MONDO:0859228 combined oxidative phosphorylation deficiency 55 MONDO:0000732 DOID:0070428 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0859234 agammaglobulinemia 8b, autosomal recessive MONDO:0015977 DOID:0081143 DOID:2583 agammaglobulinemia MONDO:0859242 leukodystrophy, hypomyelinating, 24 MONDO:0019046 DOID:0070406 DOID:0060786 leukodystrophy MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 MONDO:0015244 DOID:0070413 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 MONDO:0015363 DOID:0081425 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 MONDO:0015362 DOID:0081399 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0859309 spastic paraplegia 88, autosomal dominant MONDO:0019064 DOID:0070457 DOID:2476 hereditary spastic paraplegia MONDO:0859310 orofaciodigital syndrome 19 MONDO:0015375 DOID:0060960 DOID:4501 orofaciodigital syndrome MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0100062 DOID:0070394 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0000732 DOID:0070429 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0100062 DOID:0070378 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0100062 DOID:0070395 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:0018100 DOID:0060972 DOID:0060879 familial primary hypomagnesemia MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0000141 DOID:0060981 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0859335 congenital myopathy 15 MONDO:0019952 DOID:0081347 DOID:0081337 congenital myopathy MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 DOID:0070430 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0859338 spermatogenic failure 78 MONDO:0004983 DOID:0070577 DOID:0111910 spermatogenic failure MONDO:0859341 hypotrichosis 15 MONDO:0003037 DOID:0060968 DOID:4535 hypotrichosis MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 DOID:0060982 DOID:0080688 mosaic variegated aneuploidy syndrome MONDO:0859352 spermatogenic failure 79 MONDO:0004983 DOID:0070578 DOID:0111910 spermatogenic failure MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 DOID:0070414 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 DOID:0081328 DOID:13317 hyperinsulinemic hypoglycemia MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 DOID:0070455 DOID:2476 hereditary spastic paraplegia MONDO:0859364 spermatogenic failure 80 MONDO:0004983 DOID:0070579 DOID:0111910 spermatogenic failure MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0019046 DOID:0070401 DOID:0060786 leukodystrophy MONDO:0859477 spermatogenic failure, X-linked, 5 MONDO:0004983 DOID:0070596 DOID:0111910 spermatogenic failure MONDO:0859478 spermatogenic failure, X-linked, 6 MONDO:0004983 DOID:0070597 DOID:0111910 spermatogenic failure MONDO:0859514 congenital myopathy 18 MONDO:0019952 DOID:0081350 DOID:0081337 congenital myopathy MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0019952 DOID:0081345 DOID:0081337 congenital myopathy MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MONDO:0019952 DOID:0081339 DOID:0081337 congenital myopathy MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0019046 DOID:0070403 DOID:0060786 leukodystrophy MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 MONDO:0033885 DOID:0070485 DOID:3762 mitochondrial complex IV deficiency, nuclear-type MONDO:0859522 spermatogenic failure 81 MONDO:0004983 DOID:0070580 DOID:0111910 spermatogenic failure MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0019952 DOID:0081340 DOID:0081337 congenital myopathy MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 MONDO:0031329 DOID:0081125 DOID:0081072 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0859568 macular dystrophy, retinal, 4 MONDO:0031166 DOID:0070441 DOID:0070438 macular dystrophy, retinal MONDO:0859577 lacrimoauriculodentodigital syndrome 2 MONDO:0007872 DOID:0081371 DOID:0081370 LADD syndrome MONDO:0859578 lacrimoauriculodentodigital syndrome 3 MONDO:0007872 DOID:0081372 DOID:0081370 LADD syndrome MONDO:0859588 keratosis pilaris atrophicans faciei MONDO:0018855 DOID:0080752 DOID:0080751 keratosis pilaris atrophicans MONDO:0859591 childhood low-grade glioma MONDO:0021637 DOID:0080830 DOID:0080829 low grade glioma MONDO:0859592 IDH-mutant and 1p/19q-codeleted oligodendroglioma MONDO:0016696 DOID:0080882 DOID:7154 anaplastic oligodendroglioma MONDO:0859597 cns neuroblastoma with FOXR2 activation MONDO:0002900 DOID:0080906 DOID:0080905 cerebral neuroblastoma MONDO:0859598 erythroleukemia MONDO:0017858 DOID:0080916 DOID:0080780 acute erythroid leukemia MONDO:0859614 diffuse low-grade glioma, MAPK pathway–altered MONDO:0021637 DOID:0081260 DOID:0080829 low grade glioma MONDO:0859615 diffuse astrocytoma, MYB- or MYBL1-altered MONDO:0016686 DOID:0081279 DOID:4857 diffuse astrocytoma MONDO:0859689 hepatobiliary benign neoplasm MONDO:0000385 DOID:3117 DOID:0050624 benign digestive system neoplasm MONDO:0859690 malignant cystadenoma MONDO:0850125 DOID:60004 DOID:0080364 malignant adenoma MONDO:0859747 grade I lymphomatoid granulomatosis MONDO:0019466 DOID:0081308 DOID:0081307 lymphomatoid granulomatosis MONDO:0859748 grade II lymphomatoid granulomatosis MONDO:0019466 DOID:0081309 DOID:0081307 lymphomatoid granulomatosis MONDO:0859749 grade III lymphomatoid granulomatosis MONDO:0019466 DOID:0081310 DOID:0081307 lymphomatoid granulomatosis MONDO:0956962 benign teratoma MONDO:0850144 DOID:0080602 DOID:0080601 germ cell benign neoplasm MONDO:0956964 medulloblastoma SHH activated and TP53 mutant MONDO:0850197 DOID:0080704 DOID:0080703 medulloblastoma SHH activated MONDO:0956965 medulloblastoma SHH activated and TP53 wild-type MONDO:0850197 DOID:0080705 DOID:0080703 medulloblastoma SHH activated MONDO:0956966 medulloblastoma non-WNT/non-SHH group 3 MONDO:0850198 DOID:0080707 DOID:0080706 medulloblastoma non-WNT/non-SHH MONDO:0956967 medulloblastoma non-WNT/non-SHH group 4 MONDO:0850198 DOID:0080708 DOID:0080706 medulloblastoma non-WNT/non-SHH MONDO:0956969 chronic inducible urticaria MONDO:0850230 DOID:0080748 DOID:0080747 chronic urticaria MONDO:0956971 intermittent asthma MONDO:0850282 DOID:0080812 DOID:0080809 chronic asthma MONDO:0956975 T2-high asthma MONDO:0850282 DOID:0080817 DOID:0080809 chronic asthma MONDO:0956976 T2-low asthma MONDO:0850282 DOID:0080818 DOID:0080809 chronic asthma MONDO:0956977 near-fatal asthma MONDO:0850283 DOID:0080823 DOID:0080810 acute asthma MONDO:0956979 nocturnal asthma MONDO:0850282 DOID:0080826 DOID:0080809 chronic asthma MONDO:0956980 vascular parkinsonism MONDO:0021095 DOID:0080856 DOID:0080855 parkinsonian disorder MONDO:0956981 astrocytoma, IDH-mutant, grade 4 MONDO:0850332 DOID:0080877 DOID:0080875 IDH-mutant anaplastic astrocytoma MONDO:0956983 pleomorphic xanthoastrocytoma BRAF mutant MONDO:0850312 DOID:0080881 DOID:0080854 anaplastic pleomorphic xanthoastrocytoma MONDO:0956984 YAP1-MAMLD1 fusion-positive supratentorial ependymoma MONDO:0850340 DOID:0080891 DOID:0080890 supratentorial ependymoma MONDO:0956987 EZB-MYC+ diffuse large B-cell lymphoma MONDO:0850469 DOID:0081070 DOID:0081065 EZB diffuse large B-cell lymphoma MONDO:0956988 EZB-MYC- diffuse large B-cell lymphoma MONDO:0850469 DOID:0081071 DOID:0081065 EZB diffuse large B-cell lymphoma MONDO:0956989 CIC-rearranged sarcoma MONDO:0858921 DOID:0081250 DOID:0081249 EWSR1-negative small round cell tumor MONDO:0956990 supratentorial ependymoma, ZFTA fusion–positive MONDO:0850340 DOID:0081252 DOID:0080890 supratentorial ependymoma MONDO:0956991 supratentorial ependymoma, YAP1 fusion–positive MONDO:0850340 DOID:0081253 DOID:0080890 supratentorial ependymoma MONDO:0956992 posterior fossa group A ependymoma MONDO:0850339 DOID:0081254 DOID:0080889 posterior fossa ependymoma MONDO:0956993 posterior fossa group B ependymoma MONDO:0850339 DOID:0081255 DOID:0080889 posterior fossa ependymoma MONDO:0956994 astrocytoma, IDH-mutant, grade 2 MONDO:0850332 DOID:0081256 DOID:0080875 IDH-mutant anaplastic astrocytoma MONDO:0956995 astrocytoma, IDH-mutant, grade 3 MONDO:0850332 DOID:0081257 DOID:0080875 IDH-mutant anaplastic astrocytoma MONDO:0956996 oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 MONDO:0859592 DOID:0081281 DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma MONDO:0956997 oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 MONDO:0859592 DOID:0081282 DOID:0080882 IDH-mutant and 1p/19q-codeleted oligodendroglioma MONDO:0957202 spermatogenic failure, X-linked, 7 MONDO:0004983 DOID:0070598 DOID:0111910 spermatogenic failure MONDO:0957203 intellectual developmental disorder, X-linked 111 MONDO:0019181 DOID:0060929 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0957215 congenital myopathy 20 MONDO:0019952 DOID:0081352 DOID:0081337 congenital myopathy MONDO:0957221 spastic paraplegia 70, autosomal recessive MONDO:0019064 DOID:0070454 DOID:2476 hereditary spastic paraplegia MONDO:0957224 congenital myopathy 21 with early respiratory failure MONDO:0019952 DOID:0081353 DOID:0081337 congenital myopathy MONDO:0957240 cone-rod dystrophy 24 MONDO:0015993 DOID:0081449 DOID:0050572 cone-rod dystrophy MONDO:0957247 congenital myopathy 22A, classic MONDO:0019952 DOID:0081354 DOID:0081337 congenital myopathy MONDO:0957249 spermatogenic failure 82 MONDO:0004983 DOID:0070581 DOID:0111910 spermatogenic failure MONDO:0957250 spermatogenic failure 83 MONDO:0004983 DOID:0070582 DOID:0111910 spermatogenic failure MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:0014471 DOID:0070464 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0019952 DOID:0081355 DOID:0081337 congenital myopathy MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0019064 DOID:0070458 DOID:2476 hereditary spastic paraplegia MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0018958 DOID:0081374 DOID:3191 nemaline myopathy MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 DOID:0081375 DOID:3191 nemaline myopathy MONDO:0957301 spermatogenic failure 84 MONDO:0004983 DOID:0070583 DOID:0111910 spermatogenic failure MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0968949 DOID:0070551 DOID:0080223 palmoplantar keratoderma, epidermolytic MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 DOID:0070459 DOID:2476 hereditary spastic paraplegia MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 DOID:0070460 DOID:2476 hereditary spastic paraplegia MONDO:0957519 diffuse gastric cancer MONDO:0001056 DOID:0080763 DOID:10534 gastric cancer MONDO:0957524 COX deficiency, benign infantile mitochondrial myopathy MONDO:0033885 DOID:0081377 DOID:3762 mitochondrial complex IV deficiency, nuclear-type MONDO:0957593 spermatogenic failure 86 MONDO:0004983 DOID:0070585 DOID:0111910 spermatogenic failure MONDO:0957594 spermatogenic failure 87 MONDO:0004983 DOID:0070586 DOID:0111910 spermatogenic failure MONDO:0957821 spermatogenic failure 88 MONDO:0004983 DOID:0070587 DOID:0111910 spermatogenic failure MONDO:0957870 leukoencephalopathy with vanishing white matter 2 MONDO:0800448 DOID:0070373 DOID:0060868 leukoencephalopathy with vanishing white matter MONDO:0957871 leukoencephalopathy with vanishing white matter 3 MONDO:0800448 DOID:0070372 DOID:0060868 leukoencephalopathy with vanishing white matter MONDO:0957872 leukoencephalopathy with vanishing white matter 4 MONDO:0800448 DOID:0070371 DOID:0060868 leukoencephalopathy with vanishing white matter MONDO:0957873 leukoencephalopathy with vanishing white matter 5 MONDO:0800448 DOID:0070367 DOID:0060868 leukoencephalopathy with vanishing white matter MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 MONDO:0015363 DOID:0081428 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 MONDO:0015362 DOID:0081400 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 MONDO:0015363 DOID:0081429 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0957896 metabolic dysfunction and alcohol associated liver disease MONDO:0004790 DOID:0070508 DOID:9452 fatty liver disease MONDO:0957921 Cornelia de Lange syndrome 6 MONDO:0016033 DOID:0060970 DOID:11725 Cornelia de Lange syndrome MONDO:0957928 otosclerosis 11 MONDO:0005349 DOID:0060928 DOID:12185 otosclerosis MONDO:0958150 Borrelia miyamotoi disease MONDO:0000314 DOID:0070527 DOID:0050338 primary bacterial infectious disease MONDO:0958151 cepacia syndrome MONDO:0000316 DOID:0070528 DOID:0050340 opportunistic bacterial infectious disease MONDO:0958159 sarcoma with BCOR genetic alterations MONDO:0006974 DOID:0081402 DOID:3098 small cell sarcoma MONDO:0958160 round cell sarcoma with EWSR1-non-ETS fusion MONDO:0006974 DOID:0081406 DOID:3098 small cell sarcoma MONDO:0958161 B acute lymphoblastic leukemia with PAX5 P80R mutation MONDO:0004947 DOID:0081411 DOID:0080630 B-cell acute lymphoblastic leukemia MONDO:0958162 B acute lymphoblastic leukemia with DUX4 rearrangement MONDO:0004947 DOID:0081412 DOID:0080630 B-cell acute lymphoblastic leukemia MONDO:0958164 poorly differentiated chordoma MONDO:0008978 DOID:0081417 DOID:3302 chordoma MONDO:0958165 anaplastic sarcoma of the kidney MONDO:0002930 DOID:0081418 DOID:4242 kidney sarcoma MONDO:0958180 prolonged electroretinal response suppression 1 MONDO:0012033 DOID:0070363 DOID:0050335 bradyopsia MONDO:0958184 epidermolytic hyperkeratosis 2 MONDO:0007239 DOID:0081359 DOID:4603 epidermolytic ichthyosis MONDO:0958189 basal cell nevus syndrome 2 MONDO:0007187 DOID:0070366 DOID:2512 nevoid basal cell carcinoma syndrome MONDO:0958190 prolonged electroretinal response suppression 2 MONDO:0012033 DOID:0070364 DOID:0050335 bradyopsia MONDO:0958206 spermatogenic failure 89 MONDO:0004983 DOID:0070588 DOID:0111910 spermatogenic failure MONDO:0958230 orofaciodigital syndrome 20 MONDO:0015375 DOID:0060962 DOID:4501 orofaciodigital syndrome MONDO:0958235 Ullrich congenital muscular dystrophy 1B MONDO:0000355 DOID:0060942 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0958236 Ullrich congenital muscular dystrophy 1C MONDO:0000355 DOID:0060943 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0958242 spermatogenic failure 90 MONDO:0004983 DOID:0070589 DOID:0111910 spermatogenic failure MONDO:0958295 BCOR ITD sarcoma MONDO:0958159 DOID:0081403 DOID:0081402 sarcoma with BCOR genetic alterations MONDO:0958296 BCOR-CCNB3 sarcoma MONDO:0958159 DOID:0081404 DOID:0081402 sarcoma with BCOR genetic alterations MONDO:0958297 childhood sarcoma with BCOR genetic alterations MONDO:0958159 DOID:0081405 DOID:0081402 sarcoma with BCOR genetic alterations MONDO:0958298 childhood round cell sarcoma with EWSR1-non-ETS fusion MONDO:0958160 DOID:0081407 DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion MONDO:0958299 round cell sarcoma with EWSR1-NFATC2 gene fusion MONDO:0958160 DOID:0081408 DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion MONDO:0958300 round cell sarcoma with EWSR1-PATZ1 gene fusion MONDO:0958160 DOID:0081409 DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion MONDO:0958301 round cell sarcoma with FUS-NFATC2 gene fusion MONDO:0958160 DOID:0081410 DOID:0081406 round cell sarcoma with EWSR1-non-ETS fusion MONDO:0958302 TFEB-rearranged renal cell carcinoma MONDO:0017886 DOID:0081414 DOID:0081413 MIT family translocation renal cell carcinoma MONDO:0958303 childhood renal cell carcinoma with MiT translocations MONDO:0017886 DOID:0081416 DOID:0081413 MIT family translocation renal cell carcinoma MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 DOID:0060947 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0968974 large B-cell lymphoma MONDO:0004095 DOID:0081452 DOID:707 B-cell neoplasm MONDO:0970943 spermatogenic failure, x-linked, 8 MONDO:0004983 DOID:0070599 DOID:0111910 spermatogenic failure MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0100062 DOID:0070545 DOID:0112202 developmental and epileptic encephalopathy MONDO:0970952 spermatogenic failure 91 MONDO:0004983 DOID:0070590 DOID:0111910 spermatogenic failure MONDO:0970999 spermatogenic failure 92 MONDO:0004983 DOID:0070591 DOID:0111910 spermatogenic failure MONDO:0971000 spermatogenic failure 93 MONDO:0004983 DOID:0070592 DOID:0111910 spermatogenic failure MONDO:0971002 spermatogenic failure 94 MONDO:0004983 DOID:0070593 DOID:0111910 spermatogenic failure MONDO:0971031 auto-brewery syndrome MONDO:0006504 DOID:0081455 DOID:0060158 acquired metabolic disease MONDO:0971032 bladder fermentation syndrome MONDO:0006504 DOID:0081456 DOID:0060158 acquired metabolic disease MONDO:0971033 intrathyroid thymic carcinoma MONDO:0015075 DOID:0081457 DOID:3963 thyroid gland carcinoma MONDO:0971034 thyroid gland cribriform morular carcinoma MONDO:0015075 DOID:0081458 DOID:3963 thyroid gland carcinoma MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma MONDO:0015075 DOID:0081459 DOID:3963 thyroid gland carcinoma MONDO:0971036 thyroid gland mucinous carcinoma MONDO:0015075 DOID:0081460 DOID:3963 thyroid gland carcinoma MONDO:0975747 spermatogenic failure 95 MONDO:0004983 DOID:0070594 DOID:0111910 spermatogenic failure MONDO:1030008 mitral valve insufficiency MONDO:0003767 DOID:11502 DOID:61 mitral valve disorder MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0000858 DOID:0080679 DOID:0080072 neuronal intestinal dysplasia MONDO:8000018 benign paroxysmal positional vertigo MONDO:0004900 DOID:13941 DOID:9847 peripheral vertigo MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD MONDO:0017979 DOID:0110119 DOID:6688 autoimmune lymphoproliferative syndrome MONDO:0000226 mineral metabolism disease MONDO:0005066 ICD10CM:E83 ICD10CM:E70-E88 metabolic disease MONDO:0000940 trypanosomiasis MONDO:0002428 ICD10CM:B56 ICD10CM:B50-B64 protozoa infectious disease MONDO:0000952 cancer of long bone of lower limb MONDO:0024311 ICD10CM:C40.2 ICD10CM:C40 cancer affecting bone of limb skeleton MONDO:0000953 cancer of short bone of lower limb MONDO:0024311 ICD10CM:C40.3 ICD10CM:C40 cancer affecting bone of limb skeleton MONDO:0000987 cholesterolosis of gallbladder MONDO:0005281 ICD10CM:K82.4 ICD10CM:K82 gallbladder disorder MONDO:0001024 pneumonic plague MONDO:0019095 ICD10CM:A20.2 ICD10CM:A20 plague MONDO:0001050 malignant otitis externa MONDO:0004795 ICD10CM:H60.2 ICD10CM:H60 otitis externa MONDO:0001056 gastric cancer MONDO:0002516 ICD10CM:C16 ICD10CM:C15-C26 digestive system cancer MONDO:0001066 late yaws MONDO:0006019 ICD10CM:A66.4 ICD10CM:A66 yaws MONDO:0001100 hypertrophy of breast MONDO:0002657 ICD10CM:N62 ICD10CM:N60-N65 breast disorder MONDO:0001112 bubonic plague MONDO:0019095 ICD10CM:A20.0 ICD10CM:A20 plague MONDO:0001113 Fiedler's myocarditis MONDO:0004496 ICD10CM:I40.1 ICD10CM:I40 myocarditis MONDO:0001114 bacterial myocarditis MONDO:0004496 ICD10CM:I40.0 ICD10CM:I40 myocarditis MONDO:0001281 alternating exotropia MONDO:0001286 ICD10CM:H50.15 ICD10CM:H50.1 exotropia MONDO:0001284 endometriosis of intestine MONDO:0005133 ICD10CM:N80.5 ICD10CM:N80 endometriosis MONDO:0001285 endometriosis of pelvic peritoneum MONDO:0005133 ICD10CM:N80.3 ICD10CM:N80 endometriosis MONDO:0001287 endometriosis in cutaneous scar MONDO:0005133 ICD10CM:N80.6 ICD10CM:N80 endometriosis MONDO:0001288 endometriosis of rectovaginal septum and vagina MONDO:0005133 ICD10CM:N80.4 ICD10CM:N80 endometriosis MONDO:0001296 acquired night blindness MONDO:0004588 ICD10CM:H53.62 ICD10CM:H53.6 night blindness MONDO:0001337 inflamed seborrheic keratosis MONDO:0008420 ICD10CM:L82.0 ICD10CM:L82 seborrheic keratosis MONDO:0001391 indeterminate leprosy MONDO:0005124 ICD10CM:A30.0 ICD10CM:A30 leprosy MONDO:0001396 abnormal threshold of rods MONDO:0004588 ICD10CM:H53.61 ICD10CM:H53.6 night blindness MONDO:0001413 ulceroglandular tularemia MONDO:0018077 ICD10CM:A21.0 ICD10CM:A21 tularemia MONDO:0001422 primary aldosteronism MONDO:0003009 ICD10CM:E26.0 ICD10CM:E26 hyperaldosteronism MONDO:0001431 toxic or nutritional optic neuropathy MONDO:0005885 ICD10CM:H46.2 ICD10CM:H46 optic neuritis MONDO:0001449 lymphocytic choriomeningitis MONDO:0007015 ICD10CM:A87.2 ICD10CM:A87 viral meningitis MONDO:0001461 tinea corporis MONDO:0004678 ICD10CM:B35.4 ICD10CM:B35 dermatophytosis MONDO:0001479 cutaneous diphtheria MONDO:0005504 ICD10CM:A36.3 ICD10CM:A36 diphtheria MONDO:0001514 prolapse of urethra MONDO:0001592 ICD10CM:N81.0 ICD10CM:N81 prolapse of female genital organ MONDO:0001601 Plasmodium ovale malaria MONDO:0005136 ICD10CM:B53.0 ICD10CM:B53 malaria MONDO:0001620 louse-borne relapsing fever MONDO:0019633 ICD10CM:A68.0 ICD10CM:A68 relapsing fever MONDO:0001621 tick-borne relapsing fever MONDO:0019633 ICD10CM:A68.1 ICD10CM:A68 relapsing fever MONDO:0001622 mechanical lagophthalmos MONDO:0001604 ICD10CM:H02.22 ICD10CM:H02.2 lagophthalmos MONDO:0001623 cicatricial lagophthalmos MONDO:0001604 ICD10CM:H02.21 ICD10CM:H02.2 lagophthalmos MONDO:0001628 tinea unguium MONDO:0004678 ICD10CM:B35.1 ICD10CM:B35 dermatophytosis MONDO:0001665 oculoglandular tularemia MONDO:0018077 ICD10CM:A21.1 ICD10CM:A21 tularemia MONDO:0001688 toxic optic neuropathy MONDO:0005885 ICD10CM:H46.3 ICD10CM:H46 optic neuritis MONDO:0001699 tinea manuum MONDO:0004678 ICD10CM:B35.2 ICD10CM:B35 dermatophytosis MONDO:0001753 female infertility of uterine origin MONDO:0021124 ICD10CM:N97.2 ICD10CM:N97 female infertility MONDO:0001873 geniculate ganglionitis MONDO:0002098 ICD10CM:G51.1 ICD10CM:G51 facial nerve disorder MONDO:0001896 obstructive hydrocephalus MONDO:0001150 ICD10CM:G91.1 ICD10CM:G91 hydrocephalus MONDO:0001916 gastrointestinal tularemia MONDO:0018077 ICD10CM:A21.3 ICD10CM:A21 tularemia MONDO:0001923 vitreoretinal dystrophy MONDO:0019118 ICD10CM:H35.51 ICD10CM:H35.5 inherited retinal dystrophy MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium MONDO:0019118 ICD10CM:H35.54 ICD10CM:H35.5 inherited retinal dystrophy MONDO:0002041 fungal infectious disease MONDO:0005550 ICD10CM:B35-B49 ICD10CM:A00-B99 infectious disease MONDO:0002045 communicating hydrocephalus MONDO:0001150 ICD10CM:G91.0 ICD10CM:G91 hydrocephalus MONDO:0002050 depressive disorder MONDO:0005371 ICD10CM:F32 ICD10CM:F30-F39 mood disorder MONDO:0002172 otosalpingitis MONDO:0004866 ICD10CM:H68.0 ICD10CM:H68 eustachian tube disorder MONDO:0002202 outlet dysfunction constipation MONDO:0002203 ICD10CM:K59.02 ICD10CM:K59.0 constipation disorder MONDO:0002279 iron metabolism disease MONDO:0000226 ICD10CM:E83.1 ICD10CM:E83 mineral metabolism disease MONDO:0002313 vernal conjunctivitis MONDO:0002314 ICD10CM:H10.44 ICD10CM:H10.4 chronic conjunctivitis MONDO:0002319 phosphorus metabolism disease MONDO:0000226 ICD10CM:E83.3 ICD10CM:E83 mineral metabolism disease MONDO:0002333 splenic abscess MONDO:0002332 ICD10CM:D73.3 ICD10CM:D73 splenic disorder MONDO:0002413 glycogen storage disease I MONDO:0002412 ICD10CM:E74.01 ICD10CM:E74.0 disorder of glycogen metabolism MONDO:0002467 inner ear disorder MONDO:0002409 ICD10CM:H80-H83 ICD10CM:H60-H95 auditory system disorder MONDO:0002776 external ear disorder MONDO:0002409 ICD10CM:H60-H62 ICD10CM:H60-H95 auditory system disorder MONDO:0003276 middle ear disorder MONDO:0002409 ICD10CM:H65-H75 ICD10CM:H60-H95 auditory system disorder MONDO:0003441 dystonic disorder MONDO:0001815 ICD10CM:G24 ICD10CM:G20-G26 extrapyramidal and movement disease MONDO:0003522 male orgasm disorder MONDO:0040674 ICD10CM:F52.32 ICD10CM:F52.3 orgasm disorder MONDO:0004258 female orgasmic disorder MONDO:0040674 ICD10CM:F52.31 ICD10CM:F52.3 orgasm disorder MONDO:0004577 corneal ulcer MONDO:0003085 ICD10CM:H16.0 ICD10CM:H16 keratitis MONDO:0004607 vallecula cancer MONDO:0004608 ICD10CM:C10.0 ICD10CM:C10 oropharynx cancer MONDO:0004637 aryepiglottic fold cancer MONDO:0005806 ICD10CM:C13.1 ICD10CM:C13 hypopharynx cancer MONDO:0004642 tonsillar pillar cancer MONDO:0006998 ICD10CM:C09.1 ICD10CM:C09 tonsil cancer MONDO:0004690 tonsillar fossa cancer MONDO:0006998 ICD10CM:C09.0 ICD10CM:C09 tonsil cancer MONDO:0004701 uterine polyp MONDO:0005079 ICD10CM:N84.0 ICD10CM:N84 polyp MONDO:0004712 herpes simplex dermatitis MONDO:0004609 ICD10CM:B00.0 ICD10CM:B00 herpes simplex infectious disease MONDO:0004768 keratoconjunctivitis MONDO:0003085 ICD10CM:H16.2 ICD10CM:H16 keratitis MONDO:0004781 acute myocardial infarction MONDO:0005068 ICD10CM:I21.9 ICD10CM:I21 myocardial infarction MONDO:0004795 otitis externa MONDO:0002776 ICD10CM:H60 ICD10CM:H60-H62 external ear disorder MONDO:0004828 lower urinary tract calculus MONDO:0024647 ICD10CM:N21.9 ICD10CM:N21 urolithiasis MONDO:0004858 occlusion of gallbladder MONDO:0005281 ICD10CM:K82.0 ICD10CM:K82 gallbladder disorder MONDO:0004859 hydrops of gallbladder MONDO:0005281 ICD10CM:K82.1 ICD10CM:K82 gallbladder disorder MONDO:0004866 eustachian tube disorder MONDO:0003276 ICD10CM:H68 ICD10CM:H65-H75 middle ear disorder MONDO:0004976 amyotrophic lateral sclerosis MONDO:0020128 ICD10CM:G12.21 ICD10CM:G12.2 motor neuron disorder MONDO:0004985 bipolar disorder MONDO:0005371 ICD10CM:F31 ICD10CM:F30-F39 mood disorder MONDO:0005125 borderline leprosy MONDO:0005124 ICD10CM:A30.3 ICD10CM:A30 leprosy MONDO:0005126 tuberculoid leprosy MONDO:0005124 ICD10CM:A30.1 ICD10CM:A30 leprosy MONDO:0005127 lepromatous leprosy MONDO:0005124 ICD10CM:A30.5 ICD10CM:A30 leprosy MONDO:0005136 malaria MONDO:0002428 ICD10CM:B53 ICD10CM:B50-B64 protozoa infectious disease MONDO:0005165 benign neoplasm MONDO:0005070 ICD10CM:D10-D36 ICD10CM:C00-D49 neoplasm MONDO:0005296 sleep apnea syndrome MONDO:0003406 ICD10CM:G47.3 ICD10CM:G47 sleep-wake disorder MONDO:0005301 multiple sclerosis MONDO:0020800 ICD10CM:G35 ICD10CM:G35-G37 demyelinating disease of central nervous system MONDO:0005372 male infertility MONDO:0003150 ICD10CM:N46 ICD10CM:N40-N53 male reproductive system disorder MONDO:0005387 primary ovarian failure MONDO:0001889 ICD10CM:E28.3 ICD10CM:E28 ovarian dysfunction MONDO:0005445 visceral leishmaniasis MONDO:0011989 ICD10CM:B55.0 ICD10CM:B55 leishmaniasis MONDO:0005446 cutaneous leishmaniasis MONDO:0011989 ICD10CM:B55.1 ICD10CM:B55 leishmaniasis MONDO:0005518 pseudohermaphroditism MONDO:0024665 ICD10CM:Q56.3 ICD10CM:Q56 indeterminate sex and/or pseudohermaphroditism MONDO:0005665 Bell's palsy MONDO:0002098 ICD10CM:G51.0 ICD10CM:G51 facial nerve disorder MONDO:0005838 mansonelliasis MONDO:0016075 ICD10CM:B74.4 ICD10CM:B74 filariasis MONDO:0005859 mucocutaneous leishmaniasis MONDO:0011989 ICD10CM:B55.2 ICD10CM:B55 leishmaniasis MONDO:0005956 septicemic plague MONDO:0019095 ICD10CM:A20.7 ICD10CM:A20 plague MONDO:0005968 sporotrichosis MONDO:0002041 ICD10CM:B42 ICD10CM:B35-B49 fungal infectious disease MONDO:0005984 tinea pedis MONDO:0004678 ICD10CM:B35.3 ICD10CM:B35 dermatophytosis MONDO:0005993 Trichomonas vaginitis urogenital infection MONDO:0002154 ICD10CM:A59.0 ICD10CM:A59 trichomoniasis MONDO:0006337 ovarian endometriosis MONDO:0005133 ICD10CM:N80.1 ICD10CM:N80 endometriosis MONDO:0006497 cerebral palsy MONDO:0006496 ICD10CM:G80 ICD10CM:G80-G83 palsy MONDO:0006526 allergic urticaria MONDO:0005492 ICD10CM:L50.0 ICD10CM:L50 urticaria MONDO:0006533 cholesteatoma of middle ear MONDO:0003276 ICD10CM:H71 ICD10CM:H65-H75 middle ear disorder MONDO:0006790 hypercementosis MONDO:0002220 ICD10CM:K03.4 ICD10CM:K03 tooth hard tissue disease MONDO:0006795 hypersplenism MONDO:0002332 ICD10CM:D73.1 ICD10CM:D73 splenic disorder MONDO:0006978 splenic infarction MONDO:0002332 ICD10CM:D73.5 ICD10CM:D73 splenic disorder MONDO:0007147 obstructive sleep apnea syndrome MONDO:0005296 ICD10CM:G47.33 ICD10CM:G47.3 sleep apnea syndrome MONDO:0007713 clonic hemifacial spasm MONDO:0002098 ICD10CM:G51.3 ICD10CM:G51 facial nerve disorder MONDO:0008219 pemphigus vulgaris MONDO:0006594 ICD10CM:L10.0 ICD10CM:L10 pemphigus MONDO:0008627 ureter cancer MONDO:0006295 ICD10CM:C66 ICD10CM:C64-C68 malignant urinary system neoplasm MONDO:0010006 Sandhoff disease MONDO:0017720 ICD10CM:E75.01 ICD10CM:E75.0 GM2 gangliosidosis MONDO:0010100 Tay-Sachs disease MONDO:0017720 ICD10CM:E75.02 ICD10CM:E75.0 GM2 gangliosidosis MONDO:0011399 alpha thalassemia spectrum MONDO:0000984 ICD10CM:D56.0 ICD10CM:D56 thalassemia MONDO:0011989 leishmaniasis MONDO:0002428 ICD10CM:B55 ICD10CM:B50-B64 protozoa infectious disease MONDO:0015597 pustulosis palmaris et plantaris MONDO:0005083 ICD10CM:L40.3 ICD10CM:L40 psoriasis MONDO:0015766 cholera MONDO:0000916 ICD10CM:A00 ICD10CM:A00-A09 intestinal infectious disease MONDO:0016044 cleft lip/palate MONDO:0021147 ICD10CM:Q35-Q37 ICD10CM:Q00-Q99 disorder of development or morphogenesis MONDO:0016075 filariasis MONDO:0004664 ICD10CM:B74 ICD10CM:B65-B83 helminthiasis MONDO:0016373 isolated facial myokymia MONDO:0002098 ICD10CM:G51.4 ICD10CM:G51 facial nerve disorder MONDO:0016383 nephrogenic diabetes insipidus MONDO:0001343 ICD10CM:N25.1 ICD10CM:N25 impaired renal function disease MONDO:0016566 loiasis MONDO:0016075 ICD10CM:B74.3 ICD10CM:B74 filariasis MONDO:0017497 congenital absence of thigh and lower leg with foot present, bilateral MONDO:0017442 ICD10CM:Q72.13 ICD10CM:Q72.1 congenital absence of thigh and lower leg with foot present MONDO:0017499 congenital absence of both forearm and hand, bilateral MONDO:0017443 ICD10CM:Q71.23 ICD10CM:Q71.2 congenital absence of both forearm and hand MONDO:0017501 congenital absence of both lower leg and foot, bilateral MONDO:0017444 ICD10CM:Q72.23 ICD10CM:Q72.2 congenital absence of both lower leg and foot MONDO:0018056 bullous lichen planus MONDO:0006572 ICD10CM:L43.1 ICD10CM:L43 lichen planus MONDO:0018059 meningococcal meningitis MONDO:0005373 ICD10CM:A39.0 ICD10CM:A39 meningococcal infection MONDO:0019137 non-24-hour sleep-wake syndrome MONDO:0024361 ICD10CM:G47.24 ICD10CM:G47.2 circadian rhythm sleep disorder MONDO:0019323 pemphigus erythematosus MONDO:0006594 ICD10CM:L10.4 ICD10CM:L10 pemphigus MONDO:0020398 congenital mitral stenosis MONDO:0019817 ICD10CM:Q23.2 ICD10CM:Q23 congenital mitral valve insufficiency and/or stenosis MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0018912 ICD10CM:E24.0 ICD10CM:E24 Cushing syndrome MONDO:0021394 polyp of vagina MONDO:0005079 ICD10CM:N84.2 ICD10CM:N84 polyp MONDO:0021396 polyp of vulva MONDO:0005079 ICD10CM:N84.3 ICD10CM:N84 polyp MONDO:0021681 sexually transmitted disease MONDO:0005550 ICD10CM:A50-A64 ICD10CM:A00-B99 infectious disease MONDO:0022171 chromhidrosis MONDO:0024467 ICD10CM:L75.1 ICD10CM:L75 apocrine sweat gland disorder MONDO:0022697 athetoid cerebral palsy MONDO:0006497 ICD10CM:G80.3 ICD10CM:G80 cerebral palsy MONDO:0023297 guttate psoriasis MONDO:0005083 ICD10CM:L40.4 ICD10CM:L40 psoriasis MONDO:0024312 cancer of short bone of upper limb MONDO:0024311 ICD10CM:C40.1 ICD10CM:C40 cancer affecting bone of limb skeleton MONDO:0024361 circadian rhythm sleep disorder MONDO:0003406 ICD10CM:G47.2 ICD10CM:G47 sleep-wake disorder MONDO:0024377 circadian rhythm sleep disorder, delayed sleep phase type MONDO:0024361 ICD10CM:G47.21 ICD10CM:G47.2 circadian rhythm sleep disorder MONDO:0024378 circadian rhythm sleep disorder, advanced sleep phase type MONDO:0024361 ICD10CM:G47.22 ICD10CM:G47.2 circadian rhythm sleep disorder MONDO:0024379 circadian rhythm sleep disorder, irregular sleep wake type MONDO:0024361 ICD10CM:G47.23 ICD10CM:G47.2 circadian rhythm sleep disorder MONDO:0024381 circadian rhythm sleep disorder, jet lag type MONDO:0024361 ICD10CM:G47.25 ICD10CM:G47.2 circadian rhythm sleep disorder MONDO:0024382 circadian rhythm sleep disorder, shift work type MONDO:0024361 ICD10CM:G47.26 ICD10CM:G47.2 circadian rhythm sleep disorder MONDO:0044211 idiopathic urticaria MONDO:0005492 ICD10CM:L50.1 ICD10CM:L50 urticaria MONDO:0000022 nocturnal enuresis MONDO:0024290 icd11.foundation:1048673005 icd11.foundation:1157749237 enuresis MONDO:0000127 geleophysic dysplasia MONDO:0019695 icd11.foundation:518828851 icd11.foundation:177141175 acromelic dysplasia MONDO:0000136 keratosis follicularis spinulosa decalvans MONDO:0018855 icd11.foundation:303213910 icd11.foundation:273325594 keratosis pilaris atrophicans MONDO:0000179 Neu-Laxova syndrome MONDO:0015148 icd11.foundation:893358230 icd11.foundation:1533765623 lissencephaly type 3 MONDO:0000330 endemic typhus MONDO:0001246 icd11.foundation:4659958 icd11.foundation:292650041 typhus MONDO:0000333 early congenital syphilis MONDO:0005714 icd11.foundation:108348777 icd11.foundation:587996426 congenital syphilis MONDO:0000396 spastic cerebral palsy MONDO:0006497 icd11.foundation:1426032265 icd11.foundation:76906748 cerebral palsy MONDO:0000397 ataxic cerebral palsy MONDO:0006497 icd11.foundation:1134558601 icd11.foundation:76906748 cerebral palsy MONDO:0000498 arteritic anterior ischemic optic neuropathy MONDO:0006649 icd11.foundation:815828716 icd11.foundation:632323575 anterior ischemic optic neuropathy MONDO:0000499 non-arteritic anterior ischemic optic neuropathy MONDO:0006649 icd11.foundation:8640162 icd11.foundation:632323575 anterior ischemic optic neuropathy MONDO:0000680 astereognosia MONDO:0005638 icd11.foundation:756147896 icd11.foundation:1315065296 agnosia MONDO:0000687 diffuse alopecia areata MONDO:0005340 icd11.foundation:666274267 icd11.foundation:65720611 alopecia areata MONDO:0000700 familial hemiplegic migraine MONDO:0018925 icd11.foundation:1827007904 icd11.foundation:1957063016 familial or sporadic hemiplegic migraine MONDO:0000703 collagenous colitis MONDO:0000702 icd11.foundation:1322041450 icd11.foundation:1122828822 microscopic colitis MONDO:0000704 lymphocytic colitis MONDO:0000702 icd11.foundation:1629251056 icd11.foundation:1122828822 microscopic colitis MONDO:0000741 angular cheilitis MONDO:0002102 icd11.foundation:591060439 icd11.foundation:482914030 cheilitis MONDO:0000758 bacillary angiomatosis MONDO:0005664 icd11.foundation:1416616903 icd11.foundation:1938462328 bartonellosis MONDO:0000809 purpura fulminans MONDO:0001243 icd11.foundation:1293848111 icd11.foundation:1622289887 disseminated intravascular coagulation MONDO:0000927 asymptomatic neurosyphilis MONDO:0004944 icd11.foundation:453651926 icd11.foundation:2118246468 neurosyphilis MONDO:0000997 monocular esotropia MONDO:0004896 icd11.foundation:813817121 icd11.foundation:459766644 esotropia MONDO:0001024 pneumonic plague MONDO:0019095 icd11.foundation:1983098110 icd11.foundation:1596449540 plague MONDO:0001033 mycotic corneal ulcer MONDO:0004577 icd11.foundation:1756043578 icd11.foundation:2089700977 corneal ulcer MONDO:0001034 marginal corneal ulcer MONDO:0004577 icd11.foundation:2035123281 icd11.foundation:2089700977 corneal ulcer MONDO:0001037 ring corneal ulcer MONDO:0004577 icd11.foundation:1877531217 icd11.foundation:2089700977 corneal ulcer MONDO:0001038 perforated corneal ulcer MONDO:0004577 icd11.foundation:232838320 icd11.foundation:2089700977 corneal ulcer MONDO:0001081 acute cervicitis MONDO:0002345 icd11.foundation:411422080 icd11.foundation:1433247301 cervicitis MONDO:0001112 bubonic plague MONDO:0019095 icd11.foundation:1742025109 icd11.foundation:1596449540 plague MONDO:0001120 chronic frontal sinusitis MONDO:0006031 icd11.foundation:881075891 icd11.foundation:1836987572 chronic rhinosinusitis MONDO:0001122 chronic maxillary sinusitis MONDO:0006031 icd11.foundation:1372580647 icd11.foundation:1836987572 chronic rhinosinusitis MONDO:0001123 chronic sphenoidal sinusitis MONDO:0006031 icd11.foundation:627227610 icd11.foundation:1836987572 chronic rhinosinusitis MONDO:0001156 borderline personality disorder MONDO:0002028 icd11.foundation:189289487 icd11.foundation:941859884 personality disorder MONDO:0001157 dependent personality disorder MONDO:0002028 icd11.foundation:1283123068 icd11.foundation:941859884 personality disorder MONDO:0001161 schizoid personality disorder MONDO:0002028 icd11.foundation:1524611454 icd11.foundation:941859884 personality disorder MONDO:0001163 paranoid personality disorder MONDO:0002028 icd11.foundation:1066693864 icd11.foundation:941859884 personality disorder MONDO:0001164 antisocial personality disorder MONDO:0002028 icd11.foundation:779282819 icd11.foundation:941859884 personality disorder MONDO:0001198 acquired thrombocytopenia MONDO:0002049 icd11.foundation:526155201 icd11.foundation:683583694 thrombocytopenia MONDO:0001208 acute respiratory failure MONDO:0021113 icd11.foundation:875272781 icd11.foundation:370028006 respiratory failure MONDO:0001251 chronic apical periodontitis MONDO:0004508 icd11.foundation:1079140240 icd11.foundation:1395124674 periapical periodontitis MONDO:0001260 cercarial dermatitis MONDO:0015254 icd11.foundation:648519873 icd11.foundation:1194562592 schistosomiasis MONDO:0001281 alternating exotropia MONDO:0001286 icd11.foundation:1611093587 icd11.foundation:2116859618 exotropia MONDO:0001287 endometriosis in cutaneous scar MONDO:0005133 icd11.foundation:1586348950 icd11.foundation:1838213761 endometriosis MONDO:0001334 hypertrichosis of eyelid MONDO:0019280 icd11.foundation:1623148241 icd11.foundation:2042627850 hypertrichosis MONDO:0001349 odontoclasia MONDO:0005276 icd11.foundation:43527109 icd11.foundation:1983306720 dental caries MONDO:0001364 regular astigmatism MONDO:0011284 icd11.foundation:879600754 icd11.foundation:402558626 astigmatism MONDO:0001392 monocular exotropia MONDO:0001286 icd11.foundation:1732547896 icd11.foundation:2116859618 exotropia MONDO:0001457 secondary vitreoretinal degeneration MONDO:0001451 icd11.foundation:345348088 icd11.foundation:1518234440 peripheral retinal degeneration MONDO:0001479 cutaneous diphtheria MONDO:0005504 icd11.foundation:618920860 icd11.foundation:508032285 diphtheria MONDO:0001530 secondary hyperparathyroidism of renal origin MONDO:0006964 icd11.foundation:610229783 icd11.foundation:1442752937 secondary hyperparathyroidism MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0019249 icd11.foundation:1539226250 icd11.foundation:1596128696 mucopolysaccharidosis MONDO:0001603 paralytic lagophthalmos MONDO:0001604 icd11.foundation:2122617367 icd11.foundation:1200365909 lagophthalmos MONDO:0001610 acute dacryocystitis MONDO:0004926 icd11.foundation:743890238 icd11.foundation:1034960983 dacryocystitis MONDO:0001620 louse-borne relapsing fever MONDO:0019633 icd11.foundation:1379934125 icd11.foundation:965498095 relapsing fever MONDO:0001621 tick-borne relapsing fever MONDO:0019633 icd11.foundation:923521593 icd11.foundation:965498095 relapsing fever MONDO:0001622 mechanical lagophthalmos MONDO:0001604 icd11.foundation:466575235 icd11.foundation:1200365909 lagophthalmos MONDO:0001623 cicatricial lagophthalmos MONDO:0001604 icd11.foundation:1868697470 icd11.foundation:1200365909 lagophthalmos MONDO:0001642 hordeolum externum MONDO:0005800 icd11.foundation:522397394 icd11.foundation:1259721857 hordeolum MONDO:0001660 proliferative diabetic retinopathy MONDO:0005266 icd11.foundation:348602398 icd11.foundation:1006882070 diabetic retinopathy MONDO:0001732 trigonitis MONDO:0006032 icd11.foundation:1938116176 icd11.foundation:1181120673 cystitis MONDO:0001739 purulent labyrinthitis MONDO:0002008 icd11.foundation:479586656 icd11.foundation:901550793 labyrinthitis MONDO:0001774 posterior scleritis MONDO:0001718 icd11.foundation:982348440 icd11.foundation:2097802831 scleritis MONDO:0001804 anterior scleritis MONDO:0001718 icd11.foundation:728494077 icd11.foundation:2097802831 scleritis MONDO:0001820 focal labyrinthitis MONDO:0002008 icd11.foundation:1257091364 icd11.foundation:901550793 labyrinthitis MONDO:0001831 irregular astigmatism MONDO:0011284 icd11.foundation:1086387343 icd11.foundation:402558626 astigmatism MONDO:0001838 acute gonococcal prostatitis MONDO:0021161 icd11.foundation:1552826290 icd11.foundation:1032655599 gonococcal prostatitis MONDO:0001907 adult dermatomyositis MONDO:0016367 icd11.foundation:544509908 icd11.foundation:739030149 dermatomyositis MONDO:0001913 oligospermia MONDO:0005372 icd11.foundation:1497721709 icd11.foundation:753457327 male infertility MONDO:0001928 suppurative cholangitis MONDO:0004789 icd11.foundation:32799822 icd11.foundation:1712178777 cholangitis MONDO:0001940 pleuropneumonia MONDO:0005249 icd11.foundation:1272236893 icd11.foundation:142052508 pneumonia MONDO:0001949 acute thyroiditis MONDO:0004126 icd11.foundation:737694495 icd11.foundation:587793334 thyroiditis MONDO:0001982 Niemann-Pick disease MONDO:0019255 icd11.foundation:398872780 icd11.foundation:1875237176 sphingolipidosis MONDO:0002027 avoidant personality disorder MONDO:0002028 icd11.foundation:429615620 icd11.foundation:941859884 personality disorder MONDO:0002030 chronic cervicitis MONDO:0002345 icd11.foundation:1495469029 icd11.foundation:1433247301 cervicitis MONDO:0002045 communicating hydrocephalus MONDO:0001150 icd11.foundation:186577228 icd11.foundation:574533444 hydrocephalus MONDO:0002075 spontaneous tension pneumothorax MONDO:0002076 icd11.foundation:304972724 icd11.foundation:1946559257 pneumothorax MONDO:0002105 toxic megacolon MONDO:0001273 icd11.foundation:1497870078 icd11.foundation:1742998538 megacolon MONDO:0002153 telogen effluvium MONDO:0004907 icd11.foundation:1188535025 icd11.foundation:1313926062 alopecia MONDO:0002204 transient arthritis MONDO:0001429 icd11.foundation:846745561 icd11.foundation:404860910 transient arthropathy MONDO:0002306 angular blepharoconjunctivitis MONDO:0002307 icd11.foundation:602571061 icd11.foundation:956823887 blepharoconjunctivitis MONDO:0002307 blepharoconjunctivitis MONDO:0003799 icd11.foundation:956823887 icd11.foundation:831696556 conjunctivitis MONDO:0002308 giant papillary conjunctivitis MONDO:0002309 icd11.foundation:8559059 icd11.foundation:392841027 papillary conjunctivitis MONDO:0002309 papillary conjunctivitis MONDO:0003799 icd11.foundation:392841027 icd11.foundation:831696556 conjunctivitis MONDO:0002314 chronic conjunctivitis MONDO:0003799 icd11.foundation:1548498139 icd11.foundation:831696556 conjunctivitis MONDO:0002350 familial nephrotic syndrome MONDO:0005377 icd11.foundation:1524476844 icd11.foundation:1184209951 nephrotic syndrome MONDO:0002411 narcissistic personality disorder MONDO:0002028 icd11.foundation:641223668 icd11.foundation:941859884 personality disorder MONDO:0002457 Treacher-Collins syndrome MONDO:0015483 icd11.foundation:969026676 icd11.foundation:470731247 mandibulofacial dysostosis MONDO:0002492 acute kidney failure MONDO:0001106 icd11.foundation:476391827 icd11.foundation:761526554 kidney failure MONDO:0002561 lysosomal storage disease MONDO:0019052 icd11.foundation:656131403 icd11.foundation:733825440 inborn errors of metabolism MONDO:0002613 histrionic personality disorder MONDO:0002028 icd11.foundation:953661315 icd11.foundation:941859884 personality disorder MONDO:0002684 atypical choroid plexus papilloma MONDO:0016717 icd11.foundation:1640044333 icd11.foundation:1959912502 choroid plexus neoplasm MONDO:0002840 eosinophilic gastritis MONDO:0004966 icd11.foundation:1944772274 icd11.foundation:1871672644 gastritis MONDO:0002844 lymphocytic gastritis MONDO:0004966 icd11.foundation:2052188597 icd11.foundation:1871672644 gastritis MONDO:0003231 acute nonparalytic poliomyelitis MONDO:0017373 icd11.foundation:1066160874 icd11.foundation:588527933 poliomyelitis MONDO:0003632 endocervicitis MONDO:0002345 icd11.foundation:803236221 icd11.foundation:1433247301 cervicitis MONDO:0003712 angiokeratoma of mibelli MONDO:0003143 icd11.foundation:989688835 icd11.foundation:533651286 angiokeratoma MONDO:0003713 angiokeratoma circumscriptum MONDO:0003143 icd11.foundation:225334653 icd11.foundation:533651286 angiokeratoma MONDO:0003954 angiokeratoma of Fordyce MONDO:0003143 icd11.foundation:410953318 icd11.foundation:533651286 angiokeratoma MONDO:0004495 myotonic cataract MONDO:0016107 icd11.foundation:1723425593 icd11.foundation:192087511 myotonic dystrophy MONDO:0004582 rheumatic myocarditis MONDO:0004496 icd11.foundation:1177212968 icd11.foundation:1018829714 myocarditis MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0009348 icd11.foundation:352299041 icd11.foundation:1616050398 classic Hodgkin lymphoma MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion MONDO:0009348 icd11.foundation:1729182645 icd11.foundation:1616050398 classic Hodgkin lymphoma MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:0009348 icd11.foundation:39515681 icd11.foundation:1616050398 classic Hodgkin lymphoma MONDO:0004652 bacterial pneumonia MONDO:0005249 icd11.foundation:1323682030 icd11.foundation:142052508 pneumonia MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma MONDO:0009348 icd11.foundation:1995941600 icd11.foundation:1616050398 classic Hodgkin lymphoma MONDO:0004686 lattice corneal dystrophy MONDO:0020213 icd11.foundation:1247885635 icd11.foundation:1392780216 stromal corneal dystrophy MONDO:0004706 discoid lupus erythematosus of eyelid MONDO:0002137 icd11.foundation:743513349 icd11.foundation:849793428 noninfectious dermatoses of eyelid MONDO:0004718 xeroderma of eyelid MONDO:0002137 icd11.foundation:144401595 icd11.foundation:849793428 noninfectious dermatoses of eyelid MONDO:0004757 chronic ethmoidal sinusitis MONDO:0006031 icd11.foundation:1076459084 icd11.foundation:1836987572 chronic rhinosinusitis MONDO:0004784 allergic asthma MONDO:0004979 icd11.foundation:1870104478 icd11.foundation:1656445230 asthma MONDO:0004862 vitreous abscess MONDO:0004863 icd11.foundation:1185507932 icd11.foundation:830703931 purulent endophthalmitis MONDO:0004863 purulent endophthalmitis MONDO:0016047 icd11.foundation:830703931 icd11.foundation:1211141166 endophthalmitis MONDO:0004895 accommodative esotropia MONDO:0004896 icd11.foundation:1512812109 icd11.foundation:459766644 esotropia MONDO:0004913 alternating esotropia MONDO:0004896 icd11.foundation:935468618 icd11.foundation:459766644 esotropia MONDO:0004918 central corneal ulcer MONDO:0004577 icd11.foundation:457542318 icd11.foundation:2089700977 corneal ulcer MONDO:0004925 chronic dacryocystitis MONDO:0004926 icd11.foundation:617640909 icd11.foundation:1034960983 dacryocystitis MONDO:0004976 amyotrophic lateral sclerosis MONDO:0020128 icd11.foundation:1982355687 icd11.foundation:661720689 motor neuron disorder MONDO:0005009 congestive heart failure MONDO:0005252 icd11.foundation:2136808878 icd11.foundation:1458683894 heart failure MONDO:0005016 diabetic kidney disease MONDO:0005300 icd11.foundation:615062102 icd11.foundation:412389819 chronic kidney disease MONDO:0005106 lipoma MONDO:0044983 icd11.foundation:1090000716 icd11.foundation:226447034 benign lipomatous neoplasm MONDO:0005147 type 1 diabetes mellitus MONDO:0005015 icd11.foundation:1651053999 icd11.foundation:465177735 diabetes mellitus MONDO:0005148 type 2 diabetes mellitus MONDO:0005015 icd11.foundation:119724091 icd11.foundation:465177735 diabetes mellitus MONDO:0005181 progressive external ophthalmoplegia MONDO:0009637 icd11.foundation:1698427219 icd11.foundation:601991549 inborn mitochondrial myopathy MONDO:0005204 primary antiphospholipid syndrome MONDO:8000010 icd11.foundation:85700944 icd11.foundation:1173370808 antiphospholipid syndrome MONDO:0005217 familial cardiomyopathy MONDO:0004994 icd11.foundation:1018022925 icd11.foundation:282225286 cardiomyopathy MONDO:0005314 relapsing-remitting multiple sclerosis MONDO:0005301 icd11.foundation:799053936 icd11.foundation:1298865187 multiple sclerosis MONDO:0005340 alopecia areata MONDO:0004907 icd11.foundation:65720611 icd11.foundation:1313926062 alopecia MONDO:0005445 visceral leishmaniasis MONDO:0011989 icd11.foundation:1646564717 icd11.foundation:1082373067 leishmaniasis MONDO:0005446 cutaneous leishmaniasis MONDO:0011989 icd11.foundation:124737785 icd11.foundation:1082373067 leishmaniasis MONDO:0005543 autoimmune hepatitis type 1 MONDO:0016264 icd11.foundation:260422751 icd11.foundation:1235727122 autoimmune hepatitis MONDO:0005607 chronic bronchitis MONDO:0003781 icd11.foundation:290835130 icd11.foundation:11753425 bronchitis MONDO:0005682 bronchopneumonia MONDO:0005249 icd11.foundation:57624587 icd11.foundation:142052508 pneumonia MONDO:0005692 cat-scratch disease MONDO:0005664 icd11.foundation:2003001085 icd11.foundation:1938462328 bartonellosis MONDO:0005699 cervicofacial actinomycosis MONDO:0005631 icd11.foundation:185601767 icd11.foundation:1697630330 actinomycosis MONDO:0005714 congenital syphilis MONDO:0005976 icd11.foundation:587996426 icd11.foundation:455894495 syphilis MONDO:0005715 congenital toxoplasmosis MONDO:0005989 icd11.foundation:1194018225 icd11.foundation:738999268 toxoplasmosis MONDO:0005761 filarial elephantiasis MONDO:0016075 icd11.foundation:247221550 icd11.foundation:1975325075 filariasis MONDO:0005821 late congenital syphilis MONDO:0005714 icd11.foundation:1685932952 icd11.foundation:587996426 congenital syphilis MONDO:0005838 mansonelliasis MONDO:0016075 icd11.foundation:1504434405 icd11.foundation:1975325075 filariasis MONDO:0005859 mucocutaneous leishmaniasis MONDO:0011989 icd11.foundation:1942095878 icd11.foundation:1082373067 leishmaniasis MONDO:0005874 neuroschistosomiasis MONDO:0015254 icd11.foundation:446216876 icd11.foundation:1194562592 schistosomiasis MONDO:0005975 suppurative otitis media MONDO:0005441 icd11.foundation:1528565412 icd11.foundation:1079654421 otitis media MONDO:0005991 trench fever MONDO:0005664 icd11.foundation:1587737629 icd11.foundation:1938462328 bartonellosis MONDO:0006012 viral pneumonia MONDO:0005249 icd11.foundation:1024154490 icd11.foundation:142052508 pneumonia MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO:0019801 icd11.foundation:2072098125 icd11.foundation:114442391 acute adrenal insufficiency MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO:0018905 icd11.foundation:1418101362 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0006581 miliaria rubra MONDO:0006580 icd11.foundation:1245016385 icd11.foundation:204420062 miliaria MONDO:0006669 bacterial endocarditis MONDO:0000565 icd11.foundation:1924438986 icd11.foundation:512128824 infective endocarditis MONDO:0006866 neonatal myasthenia gravis MONDO:0009688 icd11.foundation:1274860004 icd11.foundation:1270100227 myasthenia gravis MONDO:0006884 panophthalmitis MONDO:0004863 icd11.foundation:349386559 icd11.foundation:830703931 purulent endophthalmitis MONDO:0006964 secondary hyperparathyroidism MONDO:0001741 icd11.foundation:1442752937 icd11.foundation:9633776 hyperparathyroidism MONDO:0007031 familial abdominal aortic aneurysm MONDO:0005350 icd11.foundation:556590106 icd11.foundation:1154633768 abdominal aortic aneurysm MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0018237 icd11.foundation:750680130 icd11.foundation:1702160042 acrofacial dysostosis MONDO:0007055 Acromicric dysplasia MONDO:0019695 icd11.foundation:1006372687 icd11.foundation:177141175 acromelic dysplasia MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0019236 icd11.foundation:1725611919 icd11.foundation:1958565793 inborn disorder of purine metabolism MONDO:0007072 ADULT syndrome MONDO:0019287 icd11.foundation:1445741645 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:0019287 icd11.foundation:1745113656 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0007100 familial amyloid neuropathy MONDO:0018634 icd11.foundation:807065795 icd11.foundation:1152878652 hereditary amyloidosis MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia MONDO:0019695 icd11.foundation:1095628863 icd11.foundation:177141175 acromelic dysplasia MONDO:0007150 arcus senilis MONDO:0001515 icd11.foundation:2142011301 icd11.foundation:699504167 corneal degeneration MONDO:0007160 Stickler syndrome type 1 MONDO:0019354 icd11.foundation:203625278 icd11.foundation:246271691 Stickler syndrome MONDO:0007239 epidermolytic ichthyosis MONDO:0017266 icd11.foundation:1183730789 icd11.foundation:992865924 keratinopathic ichthyosis MONDO:0007297 ADan amyloidosis MONDO:0018591 icd11.foundation:54507082 icd11.foundation:503091580 ITM2B amyloidosis MONDO:0007334 autosomal dominant popliteal pterygium syndrome MONDO:0017435 icd11.foundation:2069589860 icd11.foundation:543218573 popliteal pterygium syndrome MONDO:0007338 cleft soft palate MONDO:0016064 icd11.foundation:797497023 icd11.foundation:2129534948 cleft palate MONDO:0007339 blepharocheilodontic syndrome MONDO:0019287 icd11.foundation:755252042 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0007376 fleck corneal dystrophy MONDO:0020213 icd11.foundation:607143324 icd11.foundation:1392780216 stromal corneal dystrophy MONDO:0007383 Stern-Lubinsky-Durrie syndrome MONDO:0019287 icd11.foundation:1754695879 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0007404 Cri-du-chat syndrome MONDO:0016887 icd11.foundation:620584190 icd11.foundation:1109271336 partial deletion of the short arm of chromosome 5 MONDO:0007441 dentinogenesis imperfecta type 2 MONDO:0018849 icd11.foundation:314718507 icd11.foundation:2090257992 dentinogenesis imperfecta MONDO:0007442 dentinogenesis imperfecta type 3 MONDO:0018849 icd11.foundation:518257495 icd11.foundation:2090257992 dentinogenesis imperfecta MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:0015790 icd11.foundation:97299603 icd11.foundation:1009553897 central diabetes insipidus MONDO:0007508 Rapp-Hodgkin syndrome MONDO:0019287 icd11.foundation:1455333054 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0019716 icd11.foundation:803086260 icd11.foundation:2113355045 overgrowth syndrome MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 icd11.foundation:2130489957 icd11.foundation:2009123831 multiple epiphyseal dysplasia MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0016648 icd11.foundation:1115252418 icd11.foundation:2009123831 multiple epiphyseal dysplasia MONDO:0007652 gastric mucosal hypertrophy MONDO:0004966 icd11.foundation:1343994188 icd11.foundation:1871672644 gastritis MONDO:0007686 gray platelet syndrome MONDO:0020117 icd11.foundation:1818085572 icd11.foundation:237567451 alpha granule disease MONDO:0007700 hawkinsinuria MONDO:0017307 icd11.foundation:786595759 icd11.foundation:1842978338 disorder of tyrosine metabolism MONDO:0007772 pseudohypoaldosteronism type 2A MONDO:0019162 icd11.foundation:646091849 icd11.foundation:715347509 pseudohypoaldosteronism type 2 MONDO:0007813 superficial epidermolytic ichthyosis MONDO:0017266 icd11.foundation:842172475 icd11.foundation:992865924 keratinopathic ichthyosis MONDO:0007837 Johnson neuroectodermal syndrome MONDO:0019287 icd11.foundation:1480597785 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0007862 Waardenburg syndrome type 3 MONDO:0018094 icd11.foundation:847608197 icd11.foundation:304883627 Waardenburg syndrome MONDO:0007895 platyspondylic dysplasia, Torrance type MONDO:0019694 icd11.foundation:263213426 icd11.foundation:329165933 spondylodysplastic dysplasia MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0020088 icd11.foundation:2068585355 icd11.foundation:1661968243 familial partial lipodystrophy MONDO:0007915 systemic lupus erythematosus MONDO:0004670 icd11.foundation:749596428 icd11.foundation:1443317238 lupus erythematosus MONDO:0007916 primary intestinal lymphangiectasia MONDO:0018178 icd11.foundation:52162548 icd11.foundation:1255239964 intestinal lymphangiectasia MONDO:0007927 congenital macroglossia MONDO:0015496 icd11.foundation:423141418 icd11.foundation:670519908 macroglossia MONDO:0007949 Marshall syndrome MONDO:0019287 icd11.foundation:1401051186 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0008046 autosomal dominant myoglobinuria MONDO:0019052 icd11.foundation:149859272 icd11.foundation:733825440 inborn errors of metabolism MONDO:0008054 juvenile dermatomyositis MONDO:0016367 icd11.foundation:1428089375 icd11.foundation:739030149 dermatomyositis MONDO:0008056 myotonic dystrophy type 1 MONDO:0016107 icd11.foundation:557405480 icd11.foundation:192087511 myotonic dystrophy MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome MONDO:0019287 icd11.foundation:352035640 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0019003 icd11.foundation:1754393919 icd11.foundation:1837913809 multiple endocrine neoplasia type 2 MONDO:0008109 ocular cicatricial pemphigoid MONDO:0018746 icd11.foundation:953963439 icd11.foundation:1456138933 mucous membrane pemphigoid MONDO:0008123 autosomal dominant omodysplasia MONDO:0017136 icd11.foundation:1237796148 icd11.foundation:1081897527 omodysplasia MONDO:0008142 Thiemann disease, familial form MONDO:0018381 icd11.foundation:67016273 icd11.foundation:1446309782 osteochondrosis MONDO:0008155 osteomesopyknosis MONDO:0017198 icd11.foundation:455371627 icd11.foundation:1498426606 osteopetrosis MONDO:0008159 postmenopausal osteoporosis MONDO:0005298 icd11.foundation:123797893 icd11.foundation:2113001430 osteoporosis MONDO:0008185 hereditary chronic pancreatitis MONDO:0005003 icd11.foundation:1287702961 icd11.foundation:1758007371 chronic pancreatitis MONDO:0008207 chondromalacia patellae MONDO:0002342 icd11.foundation:1589625540 icd11.foundation:547071520 chondromalacia MONDO:0008219 pemphigus vulgaris MONDO:0006594 icd11.foundation:278358681 icd11.foundation:191659986 pemphigus MONDO:0008221 prolidase deficiency MONDO:0019232 icd11.foundation:1416203271 icd11.foundation:1488430462 inborn disorder of peptide metabolism MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0019003 icd11.foundation:1689268035 icd11.foundation:1837913809 multiple endocrine neoplasia type 2 MONDO:0008271 polydactyly of an index finger MONDO:0017425 icd11.foundation:982050714 icd11.foundation:1066753144 preaxial polydactyly of fingers MONDO:0008272 polysyndactyly 4 MONDO:0017425 icd11.foundation:973656080 icd11.foundation:1066753144 preaxial polydactyly of fingers MONDO:0008274 polyostotic fibrous dysplasia MONDO:0000845 icd11.foundation:771587091 icd11.foundation:1704766818 fibrous dysplasia MONDO:0008283 Cronkhite-Canada syndrome MONDO:0019287 icd11.foundation:79007466 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0008295 sporadic porphyria cutanea tarda MONDO:0015104 icd11.foundation:1813031784 icd11.foundation:370983230 porphyria cutanea tarda MONDO:0008296 familial porphyria cutanea tarda MONDO:0015104 icd11.foundation:1318287619 icd11.foundation:370983230 porphyria cutanea tarda MONDO:0008306 ABri amyloidosis MONDO:0018591 icd11.foundation:1037669378 icd11.foundation:503091580 ITM2B amyloidosis MONDO:0008318 Proteus syndrome MONDO:0019716 icd11.foundation:760267333 icd11.foundation:2113355045 overgrowth syndrome MONDO:0008389 autosomal dominant Robinow syndrome MONDO:0019978 icd11.foundation:807338758 icd11.foundation:1010745722 Robinow syndrome MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019287 icd11.foundation:88843032 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0008450 spinal arachnoiditis MONDO:0015304 icd11.foundation:1074591848 icd11.foundation:414817254 arachnoiditis MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type MONDO:0016763 icd11.foundation:360868302 icd11.foundation:181781948 spondylometaphyseal dysplasia MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type MONDO:0016763 icd11.foundation:1092012084 icd11.foundation:181781948 spondylometaphyseal dysplasia MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type MONDO:0016763 icd11.foundation:1295452752 icd11.foundation:181781948 spondylometaphyseal dysplasia MONDO:0008493 overhydrated hereditary stomatocytosis MONDO:0020102 icd11.foundation:595647587 icd11.foundation:2067120097 hereditary stomatocytosis MONDO:0008592 tricho-dento-osseous syndrome MONDO:0019287 icd11.foundation:131993435 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0008622 tricho-retino-dento-digital syndrome MONDO:0019287 icd11.foundation:200680230 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0008633 Muckle-Wells syndrome MONDO:0016168 icd11.foundation:1983358487 icd11.foundation:2139918612 cryopyrin-associated periodic syndrome MONDO:0008637 bifid uvula MONDO:0016064 icd11.foundation:684398038 icd11.foundation:2129534948 cleft palate MONDO:0008670 Waardenburg syndrome type 1 MONDO:0018094 icd11.foundation:547536187 icd11.foundation:304883627 Waardenburg syndrome MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0018237 icd11.foundation:547338814 icd11.foundation:1702160042 acrofacial dysostosis MONDO:0008675 Freeman-Sheldon syndrome MONDO:0019942 icd11.foundation:1314169421 icd11.foundation:1265239690 distal arthrogryposis MONDO:0008681 WAGR syndrome MONDO:0016893 icd11.foundation:1858307812 icd11.foundation:127054483 partial deletion of the short arm of chromosome 11 MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0022762 icd11.foundation:1337401724 icd11.foundation:1460916074 chromosome 4 short arm deletion MONDO:0008706 Ackerman syndrome MONDO:0019287 icd11.foundation:1946127088 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0018479 icd11.foundation:929626064 icd11.foundation:172733763 congenital adrenal hyperplasia MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:0018479 icd11.foundation:791376680 icd11.foundation:172733763 congenital adrenal hyperplasia MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018479 icd11.foundation:587903316 icd11.foundation:172733763 congenital adrenal hyperplasia MONDO:0008746 oculocutaneous albinism type 2 MONDO:0018910 icd11.foundation:2019316252 icd11.foundation:1189424097 oculocutaneous albinism MONDO:0008747 oculocutaneous albinism type 3 MONDO:0018910 icd11.foundation:1565320806 icd11.foundation:1189424097 oculocutaneous albinism MONDO:0008752 Alexander disease MONDO:0019046 icd11.foundation:2023359698 icd11.foundation:468040251 leukodystrophy MONDO:0008753 alkaptonuria MONDO:0017307 icd11.foundation:1761652827 icd11.foundation:1842978338 disorder of tyrosine metabolism MONDO:0008812 AREDYLD syndrome MONDO:0019287 icd11.foundation:2007371732 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0008830 aspartylglucosaminuria MONDO:0019251 icd11.foundation:2143470200 icd11.foundation:1805681916 oligosaccharidosis MONDO:0008877 blue diaper syndrome MONDO:0019216 icd11.foundation:292681007 icd11.foundation:1631611896 inborn disorder of amino acid transport MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:0015762 icd11.foundation:1414850183 icd11.foundation:1457142642 progressive familial intrahepatic cholestasis MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0017716 icd11.foundation:677949122 icd11.foundation:890605309 disorder of carnitine cycle and carnitine transport MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0019287 icd11.foundation:1733151457 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:0015776 icd11.foundation:44503513 icd11.foundation:260357080 rhizomelic chondrodysplasia punctata MONDO:0008974 Greenberg dysplasia MONDO:0019701 icd11.foundation:1858458540 icd11.foundation:1923035846 chondrodysplasia punctata MONDO:0008998 Cockayne syndrome type 3 MONDO:0016006 icd11.foundation:1401163130 icd11.foundation:1206275070 Cockayne syndrome MONDO:0009005 complement component C1r/C1s deficiency MONDO:0015699 icd11.foundation:448435460 icd11.foundation:327609494 immunodeficiency due to a classical component pathway complement deficiency MONDO:0009020 macular corneal dystrophy MONDO:0020213 icd11.foundation:791344343 icd11.foundation:1392780216 stromal corneal dystrophy MONDO:0009032 cranioectodermal dysplasia MONDO:0019287 icd11.foundation:1588881145 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:0020528 icd11.foundation:380861892 icd11.foundation:212778081 ACTH-dependent Cushing syndrome MONDO:0009058 cystathioninuria MONDO:0019222 icd11.foundation:1415819835 icd11.foundation:67872354 inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO:0009067 cystinuria MONDO:0019216 icd11.foundation:1237620397 icd11.foundation:1631611896 inborn disorder of amino acid transport MONDO:0009095 dermatoosteolysis, Kirghizian type MONDO:0019287 icd11.foundation:2019080941 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0009108 hyperdibasic aminoaciduria type 1 MONDO:0019216 icd11.foundation:1522058907 icd11.foundation:1631611896 inborn disorder of amino acid transport MONDO:0009109 lysinuric protein intolerance MONDO:0019216 icd11.foundation:972050440 icd11.foundation:1631611896 inborn disorder of amino acid transport MONDO:0009110 dicarboxylic aminoaciduria MONDO:0019216 icd11.foundation:1947265216 icd11.foundation:1631611896 inborn disorder of amino acid transport MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:0015776 icd11.foundation:179969811 icd11.foundation:260357080 rhizomelic chondrodysplasia punctata MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:0017706 icd11.foundation:1817406536 icd11.foundation:1315315105 disorder of carbohydrate transmembrane transport and absorption MONDO:0009124 Dubowitz syndrome MONDO:0019287 icd11.foundation:758537040 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0009166 pontocerebellar hypoplasia type 4 MONDO:0020135 icd11.foundation:447667859 icd11.foundation:1565266279 pontocerebellar hypoplasia MONDO:0009189 multiple epiphyseal dysplasia type 4 MONDO:0016648 icd11.foundation:1927114777 icd11.foundation:2009123831 multiple epiphyseal dysplasia MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0002412 icd11.foundation:426701963 icd11.foundation:1187107383 disorder of glycogen metabolism MONDO:0009236 Kandori fleck retina MONDO:0016420 icd11.foundation:697904956 icd11.foundation:979898273 familial flecked retinopathy MONDO:0009238 hereditary folate malabsorption MONDO:0017313 icd11.foundation:773545237 icd11.foundation:2081529009 disorder of folate metabolism and transport MONDO:0009240 formiminoglutamic aciduria MONDO:0017313 icd11.foundation:664824338 icd11.foundation:2081529009 disorder of folate metabolism and transport MONDO:0009249 hereditary fructose intolerance MONDO:0017689 icd11.foundation:1925240365 icd11.foundation:596254627 disorder of fructose metabolism MONDO:0009252 essential fructosuria MONDO:0017689 icd11.foundation:1362211287 icd11.foundation:596254627 disorder of fructose metabolism MONDO:0009254 fucosidosis MONDO:0019251 icd11.foundation:1470242510 icd11.foundation:1805681916 oligosaccharidosis MONDO:0009260 GM1 gangliosidosis type 1 MONDO:0018149 icd11.foundation:466200180 icd11.foundation:401105928 GM1 gangliosidosis MONDO:0009261 GM1 gangliosidosis type 2 MONDO:0018149 icd11.foundation:1132250614 icd11.foundation:401105928 GM1 gangliosidosis MONDO:0009262 GM1 gangliosidosis type 3 MONDO:0018149 icd11.foundation:1331496842 icd11.foundation:401105928 GM1 gangliosidosis MONDO:0009263 GAPO syndrome MONDO:0019287 icd11.foundation:909165198 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency MONDO:0020087 icd11.foundation:1235390174 icd11.foundation:1166232738 hereditary lipodystrophy MONDO:0009345 histidinemia MONDO:0019228 icd11.foundation:261052955 icd11.foundation:543162269 inborn disorder of histidine metabolism MONDO:0009348 classic Hodgkin lymphoma MONDO:0004952 icd11.foundation:1616050398 icd11.foundation:1528863768 Hodgkins lymphoma MONDO:0009351 homocarnosinosis MONDO:0019232 icd11.foundation:166229372 icd11.foundation:1488430462 inborn disorder of peptide metabolism MONDO:0009371 3-hydroxyisobutyric aciduria MONDO:0019215 icd11.foundation:1293648631 icd11.foundation:1879509617 classic organic aciduria MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0017350 icd11.foundation:1145853843 icd11.foundation:282654317 inborn disorder of tryptophan metabolism MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:0015708 icd11.foundation:2002226225 icd11.foundation:1948303413 immuno-osseous dysplasia MONDO:0009499 Krabbe disease MONDO:0019046 icd11.foundation:796317173 icd11.foundation:468040251 leukodystrophy MONDO:0009499 Krabbe disease MONDO:0019255 icd11.foundation:796317173 icd11.foundation:1875237176 sphingolipidosis MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0019215 icd11.foundation:795785192 icd11.foundation:1879509617 classic organic aciduria MONDO:0009528 chylomicron retention disease MONDO:0017774 icd11.foundation:1447416932 icd11.foundation:1934975006 hypobetalipoproteinemia MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0019287 icd11.foundation:1407652122 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy MONDO:0016584 icd11.foundation:1756335062 icd11.foundation:1687046570 mandibuloacral dysplasia MONDO:0009561 alpha-mannosidosis MONDO:0019251 icd11.foundation:1944256516 icd11.foundation:1805681916 oligosaccharidosis MONDO:0009562 beta-mannosidosis MONDO:0019251 icd11.foundation:1578707401 icd11.foundation:1805681916 oligosaccharidosis MONDO:0009563 maple syrup urine disease MONDO:0019242 icd11.foundation:1623706568 icd11.foundation:5456505 inborn disorder of branched-chain amino acid metabolism MONDO:0009564 Marden-Walker syndrome MONDO:0015168 icd11.foundation:1983460876 icd11.foundation:1930990330 arthrogryposis multiplex congenita MONDO:0009595 cartilage-hair hypoplasia MONDO:0015708 icd11.foundation:469051294 icd11.foundation:1948303413 immuno-osseous dysplasia MONDO:0009595 cartilage-hair hypoplasia MONDO:0019287 icd11.foundation:469051294 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0017359 icd11.foundation:899935975 icd11.foundation:1008261602 3-methylglutaconic aciduria MONDO:0009611 3-methylglutaconic aciduria type 4 MONDO:0017359 icd11.foundation:185382411 icd11.foundation:1008261602 3-methylglutaconic aciduria MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0018937 icd11.foundation:182200345 icd11.foundation:1477250013 mucopolysaccharidosis type 3 MONDO:0009656 mucopolysaccharidosis type 3B MONDO:0018937 icd11.foundation:117303909 icd11.foundation:1477250013 mucopolysaccharidosis type 3 MONDO:0009657 mucopolysaccharidosis type 3C MONDO:0018937 icd11.foundation:1755913480 icd11.foundation:1477250013 mucopolysaccharidosis type 3 MONDO:0009658 mucopolysaccharidosis type 3D MONDO:0018937 icd11.foundation:1780990193 icd11.foundation:1477250013 mucopolysaccharidosis type 3 MONDO:0009659 mucopolysaccharidosis type 4A MONDO:0018938 icd11.foundation:1919173641 icd11.foundation:2078241550 mucopolysaccharidosis type 4 MONDO:0009660 mucopolysaccharidosis type 4B MONDO:0018938 icd11.foundation:1479415032 icd11.foundation:2078241550 mucopolysaccharidosis type 4 MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0019249 icd11.foundation:1288379621 icd11.foundation:1596128696 mucopolysaccharidosis MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0019249 icd11.foundation:1563668250 icd11.foundation:1596128696 mucopolysaccharidosis MONDO:0009694 myeloperoxidase deficiency MONDO:0015978 icd11.foundation:1933575033 icd11.foundation:808756909 functional neutrophil defect MONDO:0009737 galactosialidosis MONDO:0019251 icd11.foundation:1838660035 icd11.foundation:1805681916 oligosaccharidosis MONDO:0009738 sialidosis type 2 MONDO:0017734 icd11.foundation:1855856697 icd11.foundation:1180347697 sialidosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0015364 icd11.foundation:1831234152 icd11.foundation:1091217288 hereditary sensory and autonomic neuropathy MONDO:0009771 oculotrichodysplasia MONDO:0019287 icd11.foundation:1202969811 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 icd11.foundation:350802889 icd11.foundation:1081897527 omodysplasia MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0017359 icd11.foundation:535412248 icd11.foundation:1008261602 3-methylglutaconic aciduria MONDO:0009797 orotic aciduria MONDO:0019238 icd11.foundation:449856959 icd11.foundation:771608363 inborn disorder of pyrimidine metabolism MONDO:0009903 postaxial acrofacial dysostosis MONDO:0018237 icd11.foundation:70602060 icd11.foundation:1702160042 acrofacial dysostosis MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:0017415 icd11.foundation:1502158121 icd11.foundation:834369371 multiple pterygium syndrome MONDO:0009940 pycnodysostosis MONDO:0002561 icd11.foundation:1329974152 icd11.foundation:656131403 lysosomal storage disease MONDO:0009965 Perlman syndrome MONDO:0019716 icd11.foundation:795682441 icd11.foundation:2113355045 overgrowth syndrome MONDO:0009970 renal tubular dysgenesis of genetic origin MONDO:0017609 icd11.foundation:616055520 icd11.foundation:191424358 renal tubular dysgenesis MONDO:0009999 autosomal recessive Robinow syndrome MONDO:0019978 icd11.foundation:793292660 icd11.foundation:1010745722 Robinow syndrome MONDO:0010006 Sandhoff disease MONDO:0017720 icd11.foundation:708581915 icd11.foundation:1513691830 GM2 gangliosidosis MONDO:0010010 Schinzel-Giedion syndrome MONDO:0019287 icd11.foundation:1542318431 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0010011 schizencephaly MONDO:0017103 icd11.foundation:1693546163 icd11.foundation:1436588898 encephaloclastic disorder MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0017278 icd11.foundation:1065249344 icd11.foundation:548357900 autoimmune polyendocrinopathy MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO:0015131 icd11.foundation:1718367094 icd11.foundation:1616506198 combined immunodeficiency MONDO:0010026 SHORT syndrome MONDO:0020087 icd11.foundation:1264512044 icd11.foundation:1166232738 hereditary lipodystrophy MONDO:0010028 sialuria MONDO:0017736 icd11.foundation:154329034 icd11.foundation:1709765980 disorder of sialic acid metabolism MONDO:0010079 Canavan disease MONDO:0019046 icd11.foundation:1576870846 icd11.foundation:468040251 leukodystrophy MONDO:0010080 familial infantile bilateral striatal necrosis MONDO:0015518 icd11.foundation:1873983370 icd11.foundation:1947032348 infantile bilateral striatal necrosis MONDO:0010088 mucosulfatidosis MONDO:0019255 icd11.foundation:848083807 icd11.foundation:1875237176 sphingolipidosis MONDO:0010089 isolated sulfite oxidase deficiency MONDO:0019358 icd11.foundation:963607692 icd11.foundation:681037681 encephalopathy due to sulfite oxidase deficiency MONDO:0010100 Tay-Sachs disease MONDO:0017720 icd11.foundation:215008783 icd11.foundation:1513691830 GM2 gangliosidosis MONDO:0010111 odontotrichomelic syndrome MONDO:0019287 icd11.foundation:1999951139 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0010130 dihydropyrimidine dehydrogenase deficiency MONDO:0019238 icd11.foundation:701689290 icd11.foundation:771608363 inborn disorder of pyrimidine metabolism MONDO:0010155 Dorfman-Chanarin disease MONDO:0015611 icd11.foundation:690728790 icd11.foundation:621440298 neutral lipid storage disease MONDO:0010167 urocanic aciduria MONDO:0019228 icd11.foundation:61773927 icd11.foundation:543162269 inborn disorder of histidine metabolism MONDO:0010168 Usher syndrome type 1 MONDO:0019501 icd11.foundation:237039059 icd11.foundation:1452641873 Usher syndrome MONDO:0010193 Weaver syndrome MONDO:0019716 icd11.foundation:2042913723 icd11.foundation:2113355045 overgrowth syndrome MONDO:0010200 Wilson disease MONDO:0017762 icd11.foundation:468161208 icd11.foundation:1926278296 disorder of copper metabolism MONDO:0010225 Dent disease type 1 MONDO:0015612 icd11.foundation:1984074789 icd11.foundation:1762998355 Dent disease MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation MONDO:0015146 icd11.foundation:891064255 icd11.foundation:570001324 classic lissencephaly MONDO:0010298 Lesch-Nyhan syndrome MONDO:0016088 icd11.foundation:1886495906 icd11.foundation:1293396861 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0010311 Becker muscular dystrophy MONDO:0020121 icd11.foundation:690532643 icd11.foundation:1464662404 muscular dystrophy MONDO:0010359 Dent disease type 2 MONDO:0015612 icd11.foundation:2053330521 icd11.foundation:1762998355 Dent disease MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0002412 icd11.foundation:1396572570 icd11.foundation:1187107383 disorder of glycogen metabolism MONDO:0010426 X-linked endothelial corneal dystrophy MONDO:0020214 icd11.foundation:1842066261 icd11.foundation:570101963 posterior corneal dystrophy MONDO:0010526 Fabry disease MONDO:0019255 icd11.foundation:66996647 icd11.foundation:1875237176 sphingolipidosis MONDO:0010543 Barth syndrome MONDO:0017359 icd11.foundation:452199926 icd11.foundation:1008261602 3-methylglutaconic aciduria MONDO:0010559 MASA syndrome MONDO:0017140 icd11.foundation:1973644723 icd11.foundation:1457804873 L1 syndrome MONDO:0010569 X-linked complicated corpus callosum dysgenesis MONDO:0017140 icd11.foundation:1765391162 icd11.foundation:1457804873 L1 syndrome MONDO:0010571 otopalatodigital syndrome type 2 MONDO:0019027 icd11.foundation:1897308206 icd11.foundation:1506946342 otopalatodigital syndrome MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia MONDO:0016535 icd11.foundation:941793098 icd11.foundation:673167184 hypohidrotic ectodermal dysplasia MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MONDO:0016349 icd11.foundation:1284135636 icd11.foundation:1878746673 congenital hydrocephalus MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MONDO:0017140 icd11.foundation:1284135636 icd11.foundation:1457804873 L1 syndrome MONDO:0010631 incontinentia pigmenti MONDO:0019287 icd11.foundation:1542530268 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0010631 incontinentia pigmenti MONDO:0020247 icd11.foundation:1542530268 icd11.foundation:44221751 congenital vitreoretinal dysplasia MONDO:0010651 Menkes disease MONDO:0017762 icd11.foundation:986728180 icd11.foundation:1926278296 disorder of copper metabolism MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019249 icd11.foundation:1056274204 icd11.foundation:1596128696 mucopolysaccharidosis MONDO:0010679 Duchenne muscular dystrophy MONDO:0020121 icd11.foundation:1479561744 icd11.foundation:1464662404 muscular dystrophy MONDO:0010691 Norrie disease MONDO:0020247 icd11.foundation:676214590 icd11.foundation:44221751 congenital vitreoretinal dysplasia MONDO:0010704 otopalatodigital syndrome type 1 MONDO:0019027 icd11.foundation:1442049882 icd11.foundation:1506946342 otopalatodigital syndrome MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0019046 icd11.foundation:1313582105 icd11.foundation:468040251 leukodystrophy MONDO:0010725 X-linked retinoschisis MONDO:0004579 icd11.foundation:2074506458 icd11.foundation:1118046584 retinoschisis MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0019716 icd11.foundation:181316558 icd11.foundation:2113355045 overgrowth syndrome MONDO:0010738 spondylometaphyseal dysplasia, Golden type MONDO:0016763 icd11.foundation:840695879 icd11.foundation:181781948 spondylometaphyseal dysplasia MONDO:0010787 Kearns-Sayre syndrome MONDO:0005181 icd11.foundation:399100745 icd11.foundation:1698427219 progressive external ophthalmoplegia MONDO:0010788 Leber hereditary optic neuropathy MONDO:0020249 icd11.foundation:1018428959 icd11.foundation:2452831 hereditary optic neuropathy MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:0015776 icd11.foundation:110878063 icd11.foundation:260357080 rhizomelic chondrodysplasia punctata MONDO:0010837 primary hyperparathyroidism MONDO:0001741 icd11.foundation:817194045 icd11.foundation:9633776 hyperparathyroidism MONDO:0010854 Toriello-Lacassie-Droste syndrome MONDO:0019287 icd11.foundation:1983176633 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0016894 icd11.foundation:1781576728 icd11.foundation:934406879 partial deletion of the short arm of chromosome 16 MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia MONDO:0017198 icd11.foundation:1434293148 icd11.foundation:1498426606 osteopetrosis MONDO:0010959 van den Ende-Gupta syndrome MONDO:0015168 icd11.foundation:1740735985 icd11.foundation:1930990330 arthrogryposis multiplex congenita MONDO:0011022 Potocki-Shaffer syndrome MONDO:0016893 icd11.foundation:1587521558 icd11.foundation:127054483 partial deletion of the short arm of chromosome 11 MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:0019287 icd11.foundation:612149960 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type MONDO:0019287 icd11.foundation:661397711 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0011083 trichodental syndrome MONDO:0019287 icd11.foundation:944650339 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0019249 icd11.foundation:952591271 icd11.foundation:1596128696 mucopolysaccharidosis MONDO:0011128 Sheldon-hall syndrome MONDO:0019942 icd11.foundation:1206883656 icd11.foundation:1265239690 distal arthrogryposis MONDO:0011131 tricho-oculo-dermo-vertebral syndrome MONDO:0019287 icd11.foundation:1206025469 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0011136 Quebec platelet disorder MONDO:0020117 icd11.foundation:1618741944 icd11.foundation:237567451 alpha granule disease MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:0018237 icd11.foundation:656294814 icd11.foundation:1702160042 acrofacial dysostosis MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:0015762 icd11.foundation:1168921980 icd11.foundation:1457142642 progressive familial intrahepatic cholestasis MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome MONDO:0019287 icd11.foundation:386386782 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0011197 hereditary thermosensitive neuropathy MONDO:0015358 icd11.foundation:1124144144 icd11.foundation:1538134578 hereditary motor and sensory neuropathy MONDO:0011211 axial spondylometaphyseal dysplasia MONDO:0016763 icd11.foundation:834893572 icd11.foundation:181781948 spondylometaphyseal dysplasia MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:0015762 icd11.foundation:1276600959 icd11.foundation:1457142642 progressive familial intrahepatic cholestasis MONDO:0011244 Marshall-Smith syndrome MONDO:0019716 icd11.foundation:417951600 icd11.foundation:2113355045 overgrowth syndrome MONDO:0011266 myotonic dystrophy type 2 MONDO:0016107 icd11.foundation:1005849639 icd11.foundation:192087511 myotonic dystrophy MONDO:0011334 limb-mammary syndrome MONDO:0019287 icd11.foundation:1958986288 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies MONDO:0020074 icd11.foundation:453919434 icd11.foundation:173613583 progressive myoclonus epilepsy MONDO:0011424 Carney triad MONDO:0015079 icd11.foundation:1771169701 icd11.foundation:1316827435 multiple polyglandular tumor MONDO:0011430 pulverulent cataract MONDO:0011060 icd11.foundation:1046743385 icd11.foundation:1080602978 early-onset non-syndromic cataract MONDO:0011476 MHC class I deficiency MONDO:0015131 icd11.foundation:489749747 icd11.foundation:1616506198 combined immunodeficiency MONDO:0011493 Stickler syndrome type 2 MONDO:0019354 icd11.foundation:1652024415 icd11.foundation:246271691 Stickler syndrome MONDO:0011624 transaldolase deficiency MONDO:0019231 icd11.foundation:424536994 icd11.foundation:2067324607 inborn disorder of pentose phosphate metabolism MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0019216 icd11.foundation:1742079513 icd11.foundation:1631611896 inborn disorder of amino acid transport MONDO:0011681 episodic ataxia type 4 MONDO:0016227 icd11.foundation:1119711189 icd11.foundation:423095680 hereditary episodic ataxia MONDO:0011683 oculocutaneous albinism type 4 MONDO:0018910 icd11.foundation:1286886811 icd11.foundation:1189424097 oculocutaneous albinism MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0018949 icd11.foundation:651559966 icd11.foundation:596283352 distal myopathy MONDO:0011725 Crigler-Najjar syndrome type 2 MONDO:0009044 icd11.foundation:846453488 icd11.foundation:291439191 Crigler-Najjar syndrome MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0017091 icd11.foundation:1119484699 icd11.foundation:422828750 bilateral polymicrogyria MONDO:0011765 multiple epiphyseal dysplasia type 5 MONDO:0016648 icd11.foundation:537678813 icd11.foundation:2009123831 multiple epiphyseal dysplasia MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type MONDO:0016648 icd11.foundation:1359939784 icd11.foundation:2009123831 multiple epiphyseal dysplasia MONDO:0011869 epidermolysis bullosa simplex superficialis MONDO:0015550 icd11.foundation:1738578678 icd11.foundation:1980336421 suprabasal epidermolysis bullosa simplex MONDO:0011907 acrocapitofemoral dysplasia MONDO:0019695 icd11.foundation:687396416 icd11.foundation:177141175 acromelic dysplasia MONDO:0011946 diaphanospondylodysostosis MONDO:0019694 icd11.foundation:508093071 icd11.foundation:329165933 spondylodysplastic dysplasia MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0020135 icd11.foundation:378477807 icd11.foundation:1565266279 pontocerebellar hypoplasia MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0015978 icd11.foundation:1459690929 icd11.foundation:808756909 functional neutrophil defect MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy MONDO:0016584 icd11.foundation:1199517264 icd11.foundation:1687046570 mandibuloacral dysplasia MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:0017759 icd11.foundation:1134258245 icd11.foundation:1382276026 disorder of catecholamine synthesis MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 MONDO:0015364 icd11.foundation:1411011731 icd11.foundation:1091217288 hereditary sensory and autonomic neuropathy MONDO:0012105 granulomatosis with polyangiitis MONDO:0015492 icd11.foundation:1020056159 icd11.foundation:1404622826 anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency MONDO:0019169 icd11.foundation:1709497558 icd11.foundation:1124597954 pyruvate dehydrogenase deficiency MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin MONDO:0020102 icd11.foundation:1459095719 icd11.foundation:2067120097 hereditary stomatocytosis MONDO:0012185 spondylometaphyseal dysplasia, A4 type MONDO:0016763 icd11.foundation:696316924 icd11.foundation:181781948 spondylometaphyseal dysplasia MONDO:0012204 familial pseudohyperkalemia MONDO:0020102 icd11.foundation:1653996588 icd11.foundation:2067120097 hereditary stomatocytosis MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:0017779 icd11.foundation:1058486825 icd11.foundation:1647881428 alpha-N-acetylgalactosaminidase deficiency MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0017779 icd11.foundation:266505438 icd11.foundation:1647881428 alpha-N-acetylgalactosaminidase deficiency MONDO:0012270 Tukel syndrome MONDO:0007614 icd11.foundation:2132105652 icd11.foundation:887449084 congenital fibrosis of extraocular muscles MONDO:0012275 fetal valproate syndrome MONDO:0016677 icd11.foundation:1055155432 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0018158 icd11.foundation:294556832 icd11.foundation:1159345506 mitochondrial DNA depletion syndrome MONDO:0012351 zygodactyly type 1 MONDO:0008512 icd11.foundation:1671375617 icd11.foundation:1841508645 syndactyly type 1 MONDO:0012401 congenital stromal corneal dystrophy MONDO:0020213 icd11.foundation:1796933876 icd11.foundation:1392780216 stromal corneal dystrophy MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0019237 icd11.foundation:1632334328 icd11.foundation:1860570911 inborn disorder of pyridoxine metabolism MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0017359 icd11.foundation:422277813 icd11.foundation:1008261602 3-methylglutaconic aciduria MONDO:0012438 pontocerebellar hypoplasia type 5 MONDO:0020135 icd11.foundation:1962551792 icd11.foundation:1565266279 pontocerebellar hypoplasia MONDO:0012481 mevalonic aciduria MONDO:0017708 icd11.foundation:572875152 icd11.foundation:772056052 mevalonate kinase deficiency MONDO:0012545 neutral lipid storage myopathy MONDO:0015611 icd11.foundation:1512138529 icd11.foundation:621440298 neutral lipid storage disease MONDO:0012574 Potocki-Lupski syndrome MONDO:0016950 icd11.foundation:1720095972 icd11.foundation:1672849162 partial duplication of the short arm of chromosome 17 MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:0001437 icd11.foundation:676409940 icd11.foundation:1869739196 pulmonary alveolar proteinosis MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:0020135 icd11.foundation:1612653027 icd11.foundation:1565266279 pontocerebellar hypoplasia MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0020074 icd11.foundation:383417276 icd11.foundation:173613583 progressive myoclonus epilepsy MONDO:0012755 episodic ataxia type 7 MONDO:0016227 icd11.foundation:1855038011 icd11.foundation:423095680 hereditary episodic ataxia MONDO:0012803 diarrhea-vomiting due to trehalase deficiency MONDO:0017706 icd11.foundation:2025219157 icd11.foundation:1315315105 disorder of carbohydrate transmembrane transport and absorption MONDO:0012912 pseudopseudohypoparathyroidism MONDO:0019992 icd11.foundation:245649135 icd11.foundation:1225154856 pseudohypoparathyroidism MONDO:0012982 episodic ataxia type 6 MONDO:0016227 icd11.foundation:1493336901 icd11.foundation:423095680 hereditary episodic ataxia MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria MONDO:0017091 icd11.foundation:293410499 icd11.foundation:422828750 bilateral polymicrogyria MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency MONDO:0015695 icd11.foundation:677672007 icd11.foundation:1641826886 combined immunodeficiency due to CRAC channel dysfunction MONDO:0013008 combined immunodeficiency due to STIM1 deficiency MONDO:0015695 icd11.foundation:8644198 icd11.foundation:1641826886 combined immunodeficiency due to CRAC channel dysfunction MONDO:0013024 chronic thromboembolic pulmonary hypertension MONDO:0005149 icd11.foundation:1567490107 icd11.foundation:1496633964 pulmonary hypertension MONDO:0013027 posterior amorphous corneal dystrophy MONDO:0020213 icd11.foundation:347556972 icd11.foundation:1392780216 stromal corneal dystrophy MONDO:0013028 adenosine monophosphate deaminase deficiency MONDO:0019236 icd11.foundation:550341491 icd11.foundation:1958565793 inborn disorder of purine metabolism MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:0002412 icd11.foundation:821809975 icd11.foundation:1187107383 disorder of glycogen metabolism MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0017313 icd11.foundation:1158040363 icd11.foundation:2081529009 disorder of folate metabolism and transport MONDO:0013125 CLAPO syndrome MONDO:0019716 icd11.foundation:415642712 icd11.foundation:2113355045 overgrowth syndrome MONDO:0013164 beta-ureidopropionase deficiency MONDO:0019238 icd11.foundation:1227425060 icd11.foundation:771608363 inborn disorder of pyrimidine metabolism MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0018479 icd11.foundation:497412536 icd11.foundation:172733763 congenital adrenal hyperplasia MONDO:0013526 progressive myoclonic epilepsy type 6 MONDO:0020074 icd11.foundation:878291417 icd11.foundation:173613583 progressive myoclonus epilepsy MONDO:0013777 pseudohypoaldosteronism type 2B MONDO:0019162 icd11.foundation:853594829 icd11.foundation:715347509 pseudohypoaldosteronism type 2 MONDO:0013778 pseudohypoaldosteronism type 2C MONDO:0019162 icd11.foundation:1052840113 icd11.foundation:715347509 pseudohypoaldosteronism type 2 MONDO:0013781 pseudohypoaldosteronism type 2D MONDO:0019162 icd11.foundation:1679339588 icd11.foundation:715347509 pseudohypoaldosteronism type 2 MONDO:0013782 pseudohypoaldosteronism type 2E MONDO:0019162 icd11.foundation:1263491925 icd11.foundation:715347509 pseudohypoaldosteronism type 2 MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0019236 icd11.foundation:753682703 icd11.foundation:1958565793 inborn disorder of purine metabolism MONDO:0015010 atypical glycine encephalopathy MONDO:0011612 icd11.foundation:51420481 icd11.foundation:1491869639 glycine encephalopathy MONDO:0015027 familial isolated hyperparathyroidism MONDO:0016365 icd11.foundation:1799621215 icd11.foundation:1186866066 familial primary hyperparathyroidism MONDO:0015029 reticular perineurioma MONDO:0015031 icd11.foundation:9105270 icd11.foundation:691853283 extraneural perineurioma MONDO:0015030 sclerosing perineurioma MONDO:0015031 icd11.foundation:924438028 icd11.foundation:691853283 extraneural perineurioma MONDO:0015031 extraneural perineurioma MONDO:0019404 icd11.foundation:691853283 icd11.foundation:456459236 perineurioma MONDO:0015032 intraneural perineurioma MONDO:0019404 icd11.foundation:362421359 icd11.foundation:456459236 perineurioma MONDO:0015034 lissencephaly with cerebellar hypoplasia type A MONDO:0019450 icd11.foundation:853428618 icd11.foundation:649858830 lissencephaly with cerebellar hypoplasia MONDO:0015035 lissencephaly with cerebellar hypoplasia type B MONDO:0019450 icd11.foundation:1056934902 icd11.foundation:649858830 lissencephaly with cerebellar hypoplasia MONDO:0015036 lissencephaly with cerebellar hypoplasia type C MONDO:0019450 icd11.foundation:1837040262 icd11.foundation:649858830 lissencephaly with cerebellar hypoplasia MONDO:0015037 lissencephaly with cerebellar hypoplasia type D MONDO:0019450 icd11.foundation:1633599738 icd11.foundation:649858830 lissencephaly with cerebellar hypoplasia MONDO:0015038 lissencephaly with cerebellar hypoplasia type E MONDO:0019450 icd11.foundation:252327835 icd11.foundation:649858830 lissencephaly with cerebellar hypoplasia MONDO:0015039 lissencephaly with cerebellar hypoplasia type F MONDO:0019450 icd11.foundation:468664200 icd11.foundation:649858830 lissencephaly with cerebellar hypoplasia MONDO:0015085 bathing suit ichthyosis MONDO:0017265 icd11.foundation:174005370 icd11.foundation:430849255 autosomal recessive congenital ichthyosis MONDO:0015092 cleft hard palate MONDO:0016064 icd11.foundation:1047415764 icd11.foundation:2129534948 cleft palate MONDO:0015093 sub-cortical nodular heterotopia MONDO:0016292 icd11.foundation:1683302159 icd11.foundation:143592859 nodular neuronal heterotopia MONDO:0015094 subependymal nodular heterotopia MONDO:0016292 icd11.foundation:1752491379 icd11.foundation:143592859 nodular neuronal heterotopia MONDO:0015099 unilateral hemispheric polymicrogyria MONDO:0017092 icd11.foundation:1318599015 icd11.foundation:782302128 unilateral polymicrogyria MONDO:0015101 Marin-Amat syndrome MONDO:0007946 icd11.foundation:727922687 icd11.foundation:590216180 jaw-winking syndrome MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0016971 icd11.foundation:537908479 icd11.foundation:887807212 limb-girdle muscular dystrophy MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy MONDO:0016971 icd11.foundation:319162980 icd11.foundation:887807212 limb-girdle muscular dystrophy MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent MONDO:0019457 icd11.foundation:1401970160 icd11.foundation:1581599493 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor MONDO:0019457 icd11.foundation:88207494 icd11.foundation:1581599493 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0015168 arthrogryposis multiplex congenita MONDO:0015225 icd11.foundation:1930990330 icd11.foundation:1692487835 arthrogryposis syndrome MONDO:0015169 chronic diarrhea due to glucoamylase deficiency MONDO:0017706 icd11.foundation:2084206046 icd11.foundation:1315315105 disorder of carbohydrate transmembrane transport and absorption MONDO:0015205 isolated lissencephaly type 1 without known genetic defects MONDO:0015146 icd11.foundation:80358651 icd11.foundation:570001324 classic lissencephaly MONDO:0015240 digitotalar dysmorphism MONDO:0019942 icd11.foundation:1679749810 icd11.foundation:1265239690 distal arthrogryposis MONDO:0015262 brachyolmia MONDO:0019694 icd11.foundation:1255949169 icd11.foundation:329165933 spondylodysplastic dysplasia MONDO:0015307 Madras motor neuron disease MONDO:0020128 icd11.foundation:1764644031 icd11.foundation:661720689 motor neuron disorder MONDO:0015312 choanal atresia, unilateral MONDO:0012155 icd11.foundation:1247369366 icd11.foundation:2099486655 choanal atresia MONDO:0015313 choanal atresia, bilateral MONDO:0012155 icd11.foundation:1138913171 icd11.foundation:2099486655 choanal atresia MONDO:0015367 Charlie M syndrome MONDO:0017139 icd11.foundation:1284734481 icd11.foundation:1665391511 oromandibular-limb hypogenesis syndrome MONDO:0015375 orofaciodigital syndrome MONDO:0015498 icd11.foundation:1405407847 icd11.foundation:1868700139 oromandibular-limb anomalies syndrome MONDO:0015393 nasal ganglioglioma MONDO:0016733 icd11.foundation:40917416 icd11.foundation:1287417975 ganglioglioma MONDO:0015399 glossopalatine ankylosis MONDO:0017139 icd11.foundation:1608847387 icd11.foundation:1665391511 oromandibular-limb hypogenesis syndrome MONDO:0015400 frontonasal arteriovenous malformation MONDO:0015500 icd11.foundation:1779519580 icd11.foundation:926860967 facial arteriovenous malformation MONDO:0015401 maxillary arteriovenous malformation MONDO:0015500 icd11.foundation:1755286955 icd11.foundation:926860967 facial arteriovenous malformation MONDO:0015402 mandibular arteriovenous malformation MONDO:0015500 icd11.foundation:113998538 icd11.foundation:926860967 facial arteriovenous malformation MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 MONDO:0015405 icd11.foundation:796738143 icd11.foundation:1402414905 cerebrofacial arteriovenous metameric syndrome MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 MONDO:0015405 icd11.foundation:1048965538 icd11.foundation:1402414905 cerebrofacial arteriovenous metameric syndrome MONDO:0015454 multiple carboxylase deficiency MONDO:0019215 icd11.foundation:1133091451 icd11.foundation:1879509617 classic organic aciduria MONDO:0015455 gonococcal conjunctivitis MONDO:0006668 icd11.foundation:884042621 icd11.foundation:902481358 bacterial conjunctivitis MONDO:0015466 cranio-osteoarthropathy MONDO:0016620 icd11.foundation:225223076 icd11.foundation:792225761 primary hypertrophic osteoarthropathy MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:0017716 icd11.foundation:204058632 icd11.foundation:890605309 disorder of carnitine cycle and carnitine transport MONDO:0015529 paroxysmal Hemicrania MONDO:0015530 icd11.foundation:959737563 icd11.foundation:607078588 trigeminal autonomic cephalalgia MONDO:0015550 suprabasal epidermolysis bullosa simplex MONDO:0017610 icd11.foundation:1980336421 icd11.foundation:1860717527 epidermolysis bullosa simplex MONDO:0015557 Smouldering systemic mastocytosis MONDO:0020331 icd11.foundation:481663898 icd11.foundation:353283231 indolent systemic mastocytosis MONDO:0015558 isolated bone marrow mastocytosis MONDO:0020331 icd11.foundation:922733413 icd11.foundation:353283231 indolent systemic mastocytosis MONDO:0015559 lymphoadenopathic mastocytosis with eosinophilia MONDO:0020333 icd11.foundation:809306056 icd11.foundation:870477963 aggressive systemic mastocytosis MONDO:0015573 subacute cutaneous lupus erythematosus MONDO:0005282 icd11.foundation:192274757 icd11.foundation:1401395930 cutaneous lupus erythematosus MONDO:0015574 chronic cutaneous lupus erythematosus MONDO:0005282 icd11.foundation:1849568465 icd11.foundation:1401395930 cutaneous lupus erythematosus MONDO:0015622 wound myiasis MONDO:0020568 icd11.foundation:894204357 icd11.foundation:1342682193 cutaneous myiasis MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:0016648 icd11.foundation:741183905 icd11.foundation:2009123831 multiple epiphyseal dysplasia MONDO:0015636 dirofilariasis MONDO:0016075 icd11.foundation:1349492056 icd11.foundation:1975325075 filariasis MONDO:0015648 startle epilepsy MONDO:0017768 icd11.foundation:1012101161 icd11.foundation:276807111 reflex epilepsy MONDO:0015695 combined immunodeficiency due to CRAC channel dysfunction MONDO:0015131 icd11.foundation:1641826886 icd11.foundation:1616506198 combined immunodeficiency MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0018947 icd11.foundation:1844602815 icd11.foundation:742097637 centronuclear myopathy MONDO:0015735 severe congenital nemaline myopathy MONDO:0018958 icd11.foundation:1025202057 icd11.foundation:1996502540 nemaline myopathy MONDO:0015737 typical nemaline myopathy MONDO:0018958 icd11.foundation:1105111633 icd11.foundation:1996502540 nemaline myopathy MONDO:0015739 adult-onset nemaline myopathy MONDO:0018958 icd11.foundation:1610331066 icd11.foundation:1996502540 nemaline myopathy MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:0017755 icd11.foundation:1457142642 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism MONDO:0015772 trisomy 8q MONDO:0016959 icd11.foundation:573390171 icd11.foundation:397762525 partial duplication of the long arm of chromosome 8 MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019701 icd11.foundation:260357080 icd11.foundation:1923035846 chondrodysplasia punctata MONDO:0015780 dyskeratosis congenita MONDO:0019287 icd11.foundation:1531033936 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0015790 central diabetes insipidus MONDO:0015127 icd11.foundation:1009553897 icd11.foundation:292840069 pituitary deficiency MONDO:0015792 transient congenital hypothyroidism MONDO:0018612 icd11.foundation:592246939 icd11.foundation:602450215 congenital hypothyroidism MONDO:0015883 hidrotic ectodermal dysplasia, Halal type MONDO:0019287 icd11.foundation:1668450131 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0016535 icd11.foundation:222258115 icd11.foundation:673167184 hypohidrotic ectodermal dysplasia MONDO:0015924 pulmonary arterial hypertension MONDO:0005149 icd11.foundation:1931148955 icd11.foundation:1496633964 pulmonary hypertension MONDO:0015974 severe combined immunodeficiency MONDO:0015131 icd11.foundation:963193284 icd11.foundation:1616506198 combined immunodeficiency MONDO:0016005 indomethacin embryofetopathy MONDO:0016677 icd11.foundation:1929563114 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016007 cocaine embryofetopathy MONDO:0016677 icd11.foundation:1604796846 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016008 fetal hydantoin syndrome MONDO:0016677 icd11.foundation:1894344911 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016009 fetal trimethadione syndrome MONDO:0016677 icd11.foundation:1743242235 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016010 vitamin K-antagonist embryofetopathy MONDO:0016677 icd11.foundation:71579696 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016011 fetal alcohol syndrome MONDO:0016677 icd11.foundation:362980699 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016012 diethylstilbestrol syndrome MONDO:0016677 icd11.foundation:1134098724 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016013 fetal methylmercury syndrome MONDO:0016677 icd11.foundation:1975519045 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016014 fetal minoxidil syndrome MONDO:0016677 icd11.foundation:4930572 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016015 phenobarbital embryopathy MONDO:0016677 icd11.foundation:1602901948 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016016 toluene embryopathy MONDO:0016677 icd11.foundation:1446076607 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016017 methimazole embryofetopathy MONDO:0016677 icd11.foundation:1204409156 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0016030 Evans syndrome MONDO:0020108 icd11.foundation:1048228553 icd11.foundation:1834341306 autoimmune hemolytic anemia MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0019236 icd11.foundation:1293396861 icd11.foundation:1958565793 inborn disorder of purine metabolism MONDO:0016089 infantile Krabbe disease MONDO:0009499 icd11.foundation:999546344 icd11.foundation:796317173 Krabbe disease MONDO:0016091 adult Krabbe disease MONDO:0009499 icd11.foundation:699668826 icd11.foundation:796317173 Krabbe disease MONDO:0016128 parasitic myositis MONDO:0023483 icd11.foundation:110646208 icd11.foundation:82568660 infectious myositis MONDO:0016158 narcolepsy-cataplexy syndrome MONDO:0021107 icd11.foundation:1851015159 icd11.foundation:1201727099 narcolepsy MONDO:0016162 bilateral frontal polymicrogyria MONDO:0017091 icd11.foundation:688947844 icd11.foundation:422828750 bilateral polymicrogyria MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood MONDO:0016210 icd11.foundation:447920235 icd11.foundation:774373615 alternating hemiplegia MONDO:0016227 hereditary episodic ataxia MONDO:0100309 icd11.foundation:423095680 icd11.foundation:442347652 hereditary ataxia MONDO:0016241 alternating hemiplegia of childhood MONDO:0016210 icd11.foundation:301329822 icd11.foundation:774373615 alternating hemiplegia MONDO:0016248 familial ovarian cancer MONDO:0008170 icd11.foundation:1484739866 icd11.foundation:685124533 ovarian cancer MONDO:0016249 hereditary site-specific ovarian cancer syndrome MONDO:0016248 icd11.foundation:123305976 icd11.foundation:1484739866 familial ovarian cancer MONDO:0016293 congenital stationary night blindness MONDO:0004588 icd11.foundation:122338861 icd11.foundation:205882698 night blindness MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset MONDO:0018982 icd11.foundation:587642791 icd11.foundation:812702125 Niemann-Pick disease type C MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset MONDO:0018982 icd11.foundation:2075382821 icd11.foundation:812702125 Niemann-Pick disease type C MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset MONDO:0018982 icd11.foundation:2006062681 icd11.foundation:812702125 Niemann-Pick disease type C MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset MONDO:0018982 icd11.foundation:77127214 icd11.foundation:812702125 Niemann-Pick disease type C MONDO:0016338 non-familial dilated cardiomyopathy MONDO:0005021 icd11.foundation:1782708952 icd11.foundation:1916294688 dilated cardiomyopathy MONDO:0016344 hydranencephaly MONDO:0017103 icd11.foundation:1963574608 icd11.foundation:1436588898 encephaloclastic disorder MONDO:0016345 non-familial restrictive cardiomyopathy MONDO:0005201 icd11.foundation:2097520643 icd11.foundation:316495940 restrictive cardiomyopathy MONDO:0016359 limited systemic sclerosis MONDO:0005100 icd11.foundation:187455179 icd11.foundation:1084365812 systemic sclerosis MONDO:0016365 familial primary hyperparathyroidism MONDO:0010837 icd11.foundation:1186866066 icd11.foundation:817194045 primary hyperparathyroidism MONDO:0016366 maternal phenylketonuria MONDO:0009861 icd11.foundation:1509230254 icd11.foundation:444122923 phenylketonuria MONDO:0016368 Rothmund-Thomson syndrome type 1 MONDO:0010002 icd11.foundation:717855330 icd11.foundation:652761118 Rothmund-Thomson syndrome MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:0010002 icd11.foundation:2111040755 icd11.foundation:652761118 Rothmund-Thomson syndrome MONDO:0016380 acquired hypertrichosis lanuginosa MONDO:0019280 icd11.foundation:1885858920 icd11.foundation:2042627850 hypertrichosis MONDO:0016381 hypertrichosis lanuginosa congenita MONDO:0019287 icd11.foundation:199539869 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0016394 sporadic infantile bilateral striatal necrosis MONDO:0015518 icd11.foundation:1174703901 icd11.foundation:1947032348 infantile bilateral striatal necrosis MONDO:0016396 pontocerebellar hypoplasia type 1 MONDO:0020135 icd11.foundation:1227773923 icd11.foundation:1565266279 pontocerebellar hypoplasia MONDO:0016408 permanent congenital hypothyroidism MONDO:0018612 icd11.foundation:801729371 icd11.foundation:602450215 congenital hypothyroidism MONDO:0016410 central congenital hypothyroidism MONDO:0016408 icd11.foundation:848364569 icd11.foundation:801729371 permanent congenital hypothyroidism MONDO:0016418 multiple system atrophy, cerebellar type MONDO:0007803 icd11.foundation:1585600114 icd11.foundation:1890931931 multiple system atrophy MONDO:0016422 autoimmune polyendocrinopathy type 3 MONDO:0017278 icd11.foundation:1361747293 icd11.foundation:548357900 autoimmune polyendocrinopathy MONDO:0016423 autoimmune polyendocrinopathy type 4 MONDO:0017278 icd11.foundation:1561026337 icd11.foundation:548357900 autoimmune polyendocrinopathy MONDO:0016446 acquired cutis laxa MONDO:0016175 icd11.foundation:807277512 icd11.foundation:1227401566 cutis laxa MONDO:0016450 autoimmune hemolytic anemia, cold type MONDO:0020108 icd11.foundation:1836938544 icd11.foundation:1834341306 autoimmune hemolytic anemia MONDO:0016453 foodborne botulism MONDO:0005498 icd11.foundation:2033726602 icd11.foundation:78422942 botulism MONDO:0016466 asbestosis MONDO:0015926 icd11.foundation:898495881 icd11.foundation:611962875 pneumoconiosis MONDO:0016474 drug-induced lupus erythematosus MONDO:0004670 icd11.foundation:1239818910 icd11.foundation:1443317238 lupus erythematosus MONDO:0016484 Usher syndrome type 2 MONDO:0019501 icd11.foundation:33632175 icd11.foundation:1452641873 Usher syndrome MONDO:0016485 Usher syndrome type 3 MONDO:0019501 icd11.foundation:1734357568 icd11.foundation:1452641873 Usher syndrome MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO:0019312 icd11.foundation:1086187623 icd11.foundation:2089801290 Hermansky-Pudlak syndrome MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis MONDO:0019312 icd11.foundation:1363499932 icd11.foundation:2089801290 Hermansky-Pudlak syndrome MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency MONDO:0002412 icd11.foundation:1092207912 icd11.foundation:1187107383 disorder of glycogen metabolism MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0019287 icd11.foundation:673167184 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0016539 atypical hypotonia-cystinuria syndrome MONDO:0011669 icd11.foundation:1982772708 icd11.foundation:1852649756 hypotonia-cystinuria syndrome MONDO:0016544 IgG4-related mesenteritis MONDO:0017287 icd11.foundation:1312565896 icd11.foundation:99883782 IgG4-related disease MONDO:0016550 congenital primary megaureter, obstructed form MONDO:0018960 icd11.foundation:342813504 icd11.foundation:566805920 congenital primary megaureter MONDO:0016551 congenital primary megaureter, refluxing form MONDO:0018960 icd11.foundation:1229028805 icd11.foundation:566805920 congenital primary megaureter MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form MONDO:0018960 icd11.foundation:1090144962 icd11.foundation:566805920 congenital primary megaureter MONDO:0016566 loiasis MONDO:0016075 icd11.foundation:709184369 icd11.foundation:1975325075 filariasis MONDO:0016572 central bilateral macrogyria MONDO:0017094 icd11.foundation:67804763 icd11.foundation:1352548261 cerebral cortical dysplasia MONDO:0016584 mandibuloacral dysplasia MONDO:0020087 icd11.foundation:1687046570 icd11.foundation:1166232738 hereditary lipodystrophy MONDO:0016586 systemic mastocytosis MONDO:0007950 icd11.foundation:1144812971 icd11.foundation:691643472 mastocytosis MONDO:0016602 citrin deficiency MONDO:0015991 icd11.foundation:348535193 icd11.foundation:640937125 citrullinemia MONDO:0016611 lipoblastoma MONDO:0044983 icd11.foundation:581420938 icd11.foundation:226447034 benign lipomatous neoplasm MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016535 icd11.foundation:7083042 icd11.foundation:673167184 hypohidrotic ectodermal dysplasia MONDO:0016712 classic medulloblastoma MONDO:0007959 icd11.foundation:1548011794 icd11.foundation:290815825 medulloblastoma MONDO:0016733 ganglioglioma MONDO:0016729 icd11.foundation:1287417975 icd11.foundation:1792897751 mixed neuronal-glial tumor MONDO:0016759 pontocerebellar hypoplasia type 2 MONDO:0020135 icd11.foundation:1158649247 icd11.foundation:1565266279 pontocerebellar hypoplasia MONDO:0016785 complete hydatidiform mole MONDO:0006248 icd11.foundation:1338299833 icd11.foundation:946166369 hydatidiform mole MONDO:0016786 partial hydatidiform mole MONDO:0006248 icd11.foundation:714020909 icd11.foundation:946166369 hydatidiform mole MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO:0018158 icd11.foundation:113380609 icd11.foundation:1159345506 mitochondrial DNA depletion syndrome MONDO:0016801 mitochondrial substrate carrier disorder MONDO:0016800 icd11.foundation:1118834100 icd11.foundation:1340308055 mitochondrial membrane transport disorder MONDO:0016802 mitochondrial protein import disorder MONDO:0016800 icd11.foundation:112110122 icd11.foundation:1340308055 mitochondrial membrane transport disorder MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma MONDO:0020516 icd11.foundation:2004515128 icd11.foundation:381956131 thymic neuroendocrine carcinoma MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma MONDO:0020516 icd11.foundation:1165208895 icd11.foundation:381956131 thymic neuroendocrine carcinoma MONDO:0017055 mycophenolate mofetil embryopathy MONDO:0016677 icd11.foundation:2111105927 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0017060 open iniencephaly MONDO:0018968 icd11.foundation:1778329323 icd11.foundation:1558931335 iniencephaly MONDO:0017061 closed iniencephaly MONDO:0018968 icd11.foundation:1780502952 icd11.foundation:1558931335 iniencephaly MONDO:0017063 total spina bifida aperta MONDO:0017062 icd11.foundation:910194123 icd11.foundation:187581000 spina bifida aperta MONDO:0017064 thoracolumbosacral spina bifida aperta MONDO:0017062 icd11.foundation:2108603667 icd11.foundation:187581000 spina bifida aperta MONDO:0017065 lumbosacral spina bifida aperta MONDO:0017062 icd11.foundation:417689735 icd11.foundation:187581000 spina bifida aperta MONDO:0017066 cervical spina bifida aperta MONDO:0017062 icd11.foundation:151252460 icd11.foundation:187581000 spina bifida aperta MONDO:0017067 cervicothoracic spina bifida aperta MONDO:0017062 icd11.foundation:572666703 icd11.foundation:187581000 spina bifida aperta MONDO:0017068 upper thoracic spina bifida aperta MONDO:0017062 icd11.foundation:772010291 icd11.foundation:187581000 spina bifida aperta MONDO:0017076 posterior meningocele MONDO:0017069 icd11.foundation:1464755755 icd11.foundation:979482551 spina bifida cystica MONDO:0017077 myelocystocele MONDO:0017069 icd11.foundation:863949070 icd11.foundation:979482551 spina bifida cystica MONDO:0017091 bilateral polymicrogyria MONDO:0000087 icd11.foundation:422828750 icd11.foundation:2081858551 polymicrogyria MONDO:0017092 unilateral polymicrogyria MONDO:0000087 icd11.foundation:782302128 icd11.foundation:2081858551 polymicrogyria MONDO:0017093 unilateral focal polymicrogyria MONDO:0017092 icd11.foundation:1006662041 icd11.foundation:782302128 unilateral polymicrogyria MONDO:0017139 oromandibular-limb hypogenesis syndrome MONDO:0015498 icd11.foundation:1665391511 icd11.foundation:1868700139 oromandibular-limb anomalies syndrome MONDO:0017147 idiopathic pulmonary arterial hypertension MONDO:0015924 icd11.foundation:265520344 icd11.foundation:1931148955 pulmonary arterial hypertension MONDO:0017209 infectious posterior uveitis MONDO:0001280 icd11.foundation:1722408748 icd11.foundation:1884626736 choroiditis MONDO:0017211 infectious panuveitis MONDO:0017255 icd11.foundation:1709165622 icd11.foundation:1125547814 panuveitis MONDO:0017219 microform holoprosencephaly MONDO:0016296 icd11.foundation:44293173 icd11.foundation:1712699129 holoprosencephaly MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form MONDO:0010714 icd11.foundation:1118374715 icd11.foundation:1313582105 Pelizeaus-Merzbacher spectrum disorder MONDO:0017222 Pelizaeus-Merzbacher disease, classic form MONDO:0010714 icd11.foundation:1613420896 icd11.foundation:1313582105 Pelizeaus-Merzbacher spectrum disorder MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form MONDO:0010714 icd11.foundation:1471805474 icd11.foundation:1313582105 Pelizeaus-Merzbacher spectrum disorder MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers MONDO:0010714 icd11.foundation:1751389523 icd11.foundation:1313582105 Pelizeaus-Merzbacher spectrum disorder MONDO:0017225 null syndrome MONDO:0010714 icd11.foundation:1663254692 icd11.foundation:1313582105 Pelizeaus-Merzbacher spectrum disorder MONDO:0017243 bullous diffuse cutaneous mastocytosis MONDO:0019315 icd11.foundation:227748867 icd11.foundation:193128939 diffuse cutaneous mastocytosis MONDO:0017248 congenital pulmonary airway malformation type 0 MONDO:0016580 icd11.foundation:1763273166 icd11.foundation:2091138945 congenital pulmonary airway malformation MONDO:0017249 congenital pulmonary airway malformation type 1 MONDO:0016580 icd11.foundation:1455719613 icd11.foundation:2091138945 congenital pulmonary airway malformation MONDO:0017250 congenital pulmonary airway malformation type 2 MONDO:0016580 icd11.foundation:1921224131 icd11.foundation:2091138945 congenital pulmonary airway malformation MONDO:0017251 congenital pulmonary airway malformation type 3 MONDO:0016580 icd11.foundation:1342201768 icd11.foundation:2091138945 congenital pulmonary airway malformation MONDO:0017252 congenital pulmonary airway malformation type 4 MONDO:0016580 icd11.foundation:1737719514 icd11.foundation:2091138945 congenital pulmonary airway malformation MONDO:0017267 self-healing collodion baby MONDO:0017265 icd11.foundation:34721911 icd11.foundation:430849255 autosomal recessive congenital ichthyosis MONDO:0017268 acral self-healing collodion baby MONDO:0017265 icd11.foundation:897773833 icd11.foundation:430849255 autosomal recessive congenital ichthyosis MONDO:0017282 alveolar echinococcosis MONDO:0005738 icd11.foundation:1407575161 icd11.foundation:1456802165 echinococcosis MONDO:0017313 disorder of folate metabolism and transport MONDO:0017758 icd11.foundation:2081529009 icd11.foundation:1112006621 disorder of vitamin and non-protein cofactor absorption and transport MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:0020066 icd11.foundation:1202686415 icd11.foundation:1122707206 Ehlers-Danlos syndrome MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly MONDO:0018905 icd11.foundation:407807101 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0017347 plasmablastic lymphoma MONDO:0018905 icd11.foundation:803046659 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0017353 neonatal glycine encephalopathy MONDO:0011612 icd11.foundation:414151121 icd11.foundation:1491869639 glycine encephalopathy MONDO:0017354 infantile glycine encephalopathy MONDO:0011612 icd11.foundation:563302182 icd11.foundation:1491869639 glycine encephalopathy MONDO:0017359 3-methylglutaconic aciduria MONDO:0019215 icd11.foundation:1008261602 icd11.foundation:1879509617 classic organic aciduria MONDO:0017361 congenital rubella syndrome MONDO:0004656 icd11.foundation:1059053724 icd11.foundation:410022648 rubella MONDO:0017392 pre-descemet corneal dystrophy MONDO:0020213 icd11.foundation:2027634766 icd11.foundation:1392780216 stromal corneal dystrophy MONDO:0017410 porencephaly MONDO:0017103 icd11.foundation:137059367 icd11.foundation:1436588898 encephaloclastic disorder MONDO:0017415 multiple pterygium syndrome MONDO:0015225 icd11.foundation:834369371 icd11.foundation:1692487835 arthrogryposis syndrome MONDO:0017435 popliteal pterygium syndrome MONDO:0015225 icd11.foundation:543218573 icd11.foundation:1692487835 arthrogryposis syndrome MONDO:0017436 lethal congenital contracture syndrome MONDO:0015225 icd11.foundation:1866017256 icd11.foundation:1692487835 arthrogryposis syndrome MONDO:0017478 amelia of upper limb, unilateral MONDO:0017437 icd11.foundation:790781203 icd11.foundation:565435388 amelia of upper limb MONDO:0017479 amelia of upper limb, bilateral MONDO:0017437 icd11.foundation:587439983 icd11.foundation:565435388 amelia of upper limb MONDO:0017480 amelia of lower limb, unilateral MONDO:0017438 icd11.foundation:1342789404 icd11.foundation:540310468 amelia of lower limb MONDO:0017481 amelia of lower limb, bilateral MONDO:0017438 icd11.foundation:1627185647 icd11.foundation:540310468 amelia of lower limb MONDO:0017486 radial hemimelia, unilateral MONDO:0019671 icd11.foundation:1956537587 icd11.foundation:653269137 radial hemimelia MONDO:0017487 radial hemimelia, bilateral MONDO:0019671 icd11.foundation:1701238542 icd11.foundation:653269137 radial hemimelia MONDO:0017488 ulnar hemimelia, bilateral MONDO:0019670 icd11.foundation:837973744 icd11.foundation:1136383237 ulnar hemimelia MONDO:0017489 ulnar hemimelia, unilateral MONDO:0019670 icd11.foundation:1826480139 icd11.foundation:1136383237 ulnar hemimelia MONDO:0017490 tibial hemimelia, unilateral MONDO:0010144 icd11.foundation:863808263 icd11.foundation:1111258427 tibial hemimelia MONDO:0017491 tibial hemimelia, bilateral MONDO:0010144 icd11.foundation:1562926182 icd11.foundation:1111258427 tibial hemimelia MONDO:0017492 fibular hemimelia, unilateral MONDO:0019672 icd11.foundation:1359584794 icd11.foundation:915482054 fibular hemimelia MONDO:0017493 fibular hemimelia, bilateral MONDO:0019672 icd11.foundation:1479927692 icd11.foundation:915482054 fibular hemimelia MONDO:0017498 congenital absence of both forearm and hand, unilateral MONDO:0017443 icd11.foundation:2019491585 icd11.foundation:810894993 congenital absence of both forearm and hand MONDO:0017499 congenital absence of both forearm and hand, bilateral MONDO:0017443 icd11.foundation:1524444518 icd11.foundation:810894993 congenital absence of both forearm and hand MONDO:0017500 congenital absence of both lower leg and foot, unilateral MONDO:0017444 icd11.foundation:608099172 icd11.foundation:835905199 congenital absence of both lower leg and foot MONDO:0017501 congenital absence of both lower leg and foot, bilateral MONDO:0017444 icd11.foundation:113051911 icd11.foundation:835905199 congenital absence of both lower leg and foot MONDO:0017502 acheiria, unilateral MONDO:0017445 icd11.foundation:1906312110 icd11.foundation:1428065029 acheiria MONDO:0017503 acheiria, bilateral MONDO:0017445 icd11.foundation:1430605018 icd11.foundation:1428065029 acheiria MONDO:0017504 apodia, unilateral MONDO:0017446 icd11.foundation:1499762342 icd11.foundation:1419324219 apodia MONDO:0017505 apodia, bilateral MONDO:0017446 icd11.foundation:1292290082 icd11.foundation:1419324219 apodia MONDO:0017511 split hand, unilateral MONDO:0017449 icd11.foundation:1675694993 icd11.foundation:924222970 split hand MONDO:0017512 split hand, bilateral MONDO:0017449 icd11.foundation:1096991220 icd11.foundation:924222970 split hand MONDO:0017513 split foot, unilateral MONDO:0017450 icd11.foundation:1995563146 icd11.foundation:1406855248 split foot MONDO:0017514 split foot, bilateral MONDO:0017450 icd11.foundation:1227623929 icd11.foundation:1406855248 split foot MONDO:0017521 hyperphalangy, unilateral MONDO:0017455 icd11.foundation:1023621052 icd11.foundation:177215174 hyperphalangy MONDO:0017522 hyperphalangy, bilateral MONDO:0017455 icd11.foundation:528541151 icd11.foundation:177215174 hyperphalangy MONDO:0017525 polydactyly of a triphalangeal thumb, unilateral MONDO:0008270 icd11.foundation:71240015 icd11.foundation:728781925 polydactyly of a triphalangeal thumb MONDO:0017526 polydactyly of a triphalangeal thumb, bilateral MONDO:0008270 icd11.foundation:866920497 icd11.foundation:728781925 polydactyly of a triphalangeal thumb MONDO:0017527 polydactyly of an index finger, unilateral MONDO:0008271 icd11.foundation:734031453 icd11.foundation:982050714 polydactyly of an index finger MONDO:0017528 polydactyly of an index finger, bilateral MONDO:0008271 icd11.foundation:806174152 icd11.foundation:982050714 polydactyly of an index finger MONDO:0017529 polysyndactyly, unilateral MONDO:0008272 icd11.foundation:127802550 icd11.foundation:973656080 polysyndactyly 4 MONDO:0017530 polysyndactyly, bilateral MONDO:0008272 icd11.foundation:622710483 icd11.foundation:973656080 polysyndactyly 4 MONDO:0017531 postaxial polydactyly type A, unilateral MONDO:0019673 icd11.foundation:471986216 icd11.foundation:476330894 postaxial polydactyly type A MONDO:0017532 postaxial polydactyly type A, bilateral MONDO:0019673 icd11.foundation:1050812995 icd11.foundation:476330894 postaxial polydactyly type A MONDO:0017533 postaxial polydactyly type B, unilateral MONDO:0019674 icd11.foundation:154207037 icd11.foundation:366939273 postaxial polydactyly type B MONDO:0017534 postaxial polydactyly type B, bilateral MONDO:0019674 icd11.foundation:921497168 icd11.foundation:366939273 postaxial polydactyly type B MONDO:0017535 central polydactyly of fingers, unilateral MONDO:0017456 icd11.foundation:738371690 icd11.foundation:243366415 central polydactyly of fingers MONDO:0017536 central polydactyly of fingers, bilateral MONDO:0017456 icd11.foundation:462522644 icd11.foundation:243366415 central polydactyly of fingers MONDO:0017537 Preaxial polydactyly of toes, unilateral MONDO:0017457 icd11.foundation:841462147 icd11.foundation:1685587490 Preaxial polydactyly of toes MONDO:0017538 Preaxial polydactyly of toes, bilateral MONDO:0017457 icd11.foundation:3040646 icd11.foundation:1685587490 Preaxial polydactyly of toes MONDO:0017543 zygodactyly type 2 MONDO:0008512 icd11.foundation:1092417894 icd11.foundation:1841508645 syndactyly type 1 MONDO:0017544 zygodactyly type 3 MONDO:0008512 icd11.foundation:1831534806 icd11.foundation:1841508645 syndactyly type 1 MONDO:0017545 zygodactyly type 4 MONDO:0008512 icd11.foundation:1391914407 icd11.foundation:1841508645 syndactyly type 1 MONDO:0017546 congenital vertical talus, unilateral MONDO:0008652 icd11.foundation:2123428798 icd11.foundation:1525079646 congenital vertical talus MONDO:0017547 congenital vertical talus, bilateral MONDO:0008652 icd11.foundation:1224987332 icd11.foundation:1525079646 congenital vertical talus MONDO:0017548 humero-radio-ulnar synostosis, unilateral MONDO:0017983 icd11.foundation:322904301 icd11.foundation:1798339866 humero-radio-ulnar synostosis MONDO:0017549 humero-radio-ulnar synostosis, bilateral MONDO:0017983 icd11.foundation:557249772 icd11.foundation:1798339866 humero-radio-ulnar synostosis MONDO:0017550 humero-radial synostosis, unilateral MONDO:0007737 icd11.foundation:695744743 icd11.foundation:518723993 humeroradial synostosis MONDO:0017551 humero-radial synostosis, bilateral MONDO:0007737 icd11.foundation:1424025632 icd11.foundation:518723993 humeroradial synostosis MONDO:0017552 humero-ulnar synostosis, unilateral MONDO:0019782 icd11.foundation:1726561305 icd11.foundation:2144695561 humero-ulnar synostosis MONDO:0017553 humero-ulnar synostosis, bilateral MONDO:0019782 icd11.foundation:1331627150 icd11.foundation:2144695561 humero-ulnar synostosis MONDO:0017554 radio-ulnar synostosis, unilateral MONDO:0017985 icd11.foundation:2026644976 icd11.foundation:1098526181 congenital radioulnar synostosis MONDO:0017555 radio-ulnar synostosis, bilateral MONDO:0017985 icd11.foundation:1515190165 icd11.foundation:1098526181 congenital radioulnar synostosis MONDO:0017556 Madelung deformity, unilateral MONDO:0018154 icd11.foundation:1964514438 icd11.foundation:1398663515 Madelung deformity MONDO:0017557 Madelung deformity, bilateral MONDO:0018154 icd11.foundation:1577029287 icd11.foundation:1398663515 Madelung deformity MONDO:0017558 congenital elbow dislocation, unilateral MONDO:0017469 icd11.foundation:1630272046 icd11.foundation:1593186141 congenital elbow dislocation MONDO:0017559 congenital elbow dislocation, bilateral MONDO:0017469 icd11.foundation:1454955344 icd11.foundation:1593186141 congenital elbow dislocation MONDO:0017560 congenital genu recurvatum MONDO:0017470 icd11.foundation:1709221347 icd11.foundation:1229590493 congenital knee dislocation MONDO:0017561 congenital genu flexum MONDO:0017470 icd11.foundation:830907514 icd11.foundation:1229590493 congenital knee dislocation MONDO:0017562 congenital patella dislocation, unilateral MONDO:0017471 icd11.foundation:1894799098 icd11.foundation:1383302301 congenital patella dislocation MONDO:0017563 congenital patella dislocation, bilateral MONDO:0017471 icd11.foundation:1604828649 icd11.foundation:1383302301 congenital patella dislocation MONDO:0017564 macrodactyly of fingers, unilateral MONDO:0017474 icd11.foundation:128394973 icd11.foundation:1647254435 macrodactyly of fingers MONDO:0017565 macrodactyly of fingers, bilateral MONDO:0017474 icd11.foundation:514958635 icd11.foundation:1647254435 macrodactyly of fingers MONDO:0017566 macrodactyly of toes, unilateral MONDO:0017475 icd11.foundation:1009940304 icd11.foundation:1196147958 macrodactyly of toes MONDO:0017567 macrodactyly of toes, bilateral MONDO:0017475 icd11.foundation:84822459 icd11.foundation:1196147958 macrodactyly of toes MONDO:0017570 leukocyte adhesion deficiency MONDO:0015978 icd11.foundation:317341989 icd11.foundation:808756909 functional neutrophil defect MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system MONDO:0018905 icd11.foundation:1029172881 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma MONDO:0018905 icd11.foundation:257833622 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0017598 primary cutaneous anaplastic large cell lymphoma MONDO:0018897 icd11.foundation:1972636482 icd11.foundation:1046496266 primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO:0017666 diffuse palmoplantar keratoderma MONDO:0019272 icd11.foundation:1259583500 icd11.foundation:1941547119 hereditary palmoplantar keratoderma MONDO:0017672 focal palmoplantar keratoderma MONDO:0019272 icd11.foundation:1676945961 icd11.foundation:1941547119 hereditary palmoplantar keratoderma MONDO:0017719 gangliosidosis MONDO:0019255 icd11.foundation:797306953 icd11.foundation:1875237176 sphingolipidosis MONDO:0017720 GM2 gangliosidosis MONDO:0017719 icd11.foundation:1513691830 icd11.foundation:797306953 gangliosidosis MONDO:0017731 glycoproteinosis MONDO:0002561 icd11.foundation:979972142 icd11.foundation:656131403 lysosomal storage disease MONDO:0017734 sialidosis MONDO:0019251 icd11.foundation:1180347697 icd11.foundation:1805681916 oligosaccharidosis MONDO:0017736 disorder of sialic acid metabolism MONDO:0002561 icd11.foundation:1709765980 icd11.foundation:656131403 lysosomal storage disease MONDO:0017762 disorder of copper metabolism MONDO:0017761 icd11.foundation:1926278296 icd11.foundation:1833416892 disorder of mineral absorption and transport MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0019251 icd11.foundation:1647881428 icd11.foundation:1805681916 oligosaccharidosis MONDO:0017810 variant ABeta2M amyloidosis MONDO:0018590 icd11.foundation:1466418791 icd11.foundation:448754119 ABeta2M amyloidosis MONDO:0017910 dehydrated hereditary stomatocytosis MONDO:0020102 icd11.foundation:799088159 icd11.foundation:2067120097 hereditary stomatocytosis MONDO:0018026 tetraploidy syndrome MONDO:0019934 icd11.foundation:1705084192 icd11.foundation:1286128770 polyploidy MONDO:0018034 thalidomide embryopathy MONDO:0016677 icd11.foundation:299085643 icd11.foundation:293076727 toxic or drug-related embryofetopathy MONDO:0018059 meningococcal meningitis MONDO:0006670 icd11.foundation:516585689 icd11.foundation:684930313 bacterial meningitis MONDO:0018067 triploidy MONDO:0019934 icd11.foundation:1900317965 icd11.foundation:1286128770 polyploidy MONDO:0018149 GM1 gangliosidosis MONDO:0017719 icd11.foundation:401105928 icd11.foundation:797306953 gangliosidosis MONDO:0018150 Gaucher disease MONDO:0019255 icd11.foundation:1923566939 icd11.foundation:1875237176 sphingolipidosis MONDO:0018167 primary essential cutis verticis gyrata MONDO:0019033 icd11.foundation:895947895 icd11.foundation:71926572 primary cutis verticis gyrata MONDO:0018168 primary non-essential cutis verticis gyrata MONDO:0019033 icd11.foundation:129937701 icd11.foundation:71926572 primary cutis verticis gyrata MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 MONDO:0015364 icd11.foundation:1989773046 icd11.foundation:1091217288 hereditary sensory and autonomic neuropathy MONDO:0018225 ALK-positive large B-cell lymphoma MONDO:0018905 icd11.foundation:2077559619 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0018229 Stevens-Johnson syndrome MONDO:0019810 icd11.foundation:450167795 icd11.foundation:195467267 toxic epidermal necrolysis MONDO:0018326 transient neonatal myasthenia gravis MONDO:0009688 icd11.foundation:2096990223 icd11.foundation:1270100227 myasthenia gravis MONDO:0018363 focal facial dermal dysplasia MONDO:0019287 icd11.foundation:1200544726 icd11.foundation:1156567558 ectodermal dysplasia syndrome MONDO:0018483 secondary pulmonary alveolar proteinosis MONDO:0001437 icd11.foundation:1480338606 icd11.foundation:1869739196 pulmonary alveolar proteinosis MONDO:0018544 adrenoleukodystrophy MONDO:0019046 icd11.foundation:1085655586 icd11.foundation:468040251 leukodystrophy MONDO:0018590 ABeta2M amyloidosis MONDO:0019065 icd11.foundation:448754119 icd11.foundation:2078467774 amyloidosis MONDO:0018591 ITM2B amyloidosis MONDO:0018634 icd11.foundation:503091580 icd11.foundation:1152878652 hereditary amyloidosis MONDO:0018612 congenital hypothyroidism MONDO:0005420 icd11.foundation:602450215 icd11.foundation:1722092627 hypothyroidism MONDO:0018613 AH amyloidosis MONDO:0019065 icd11.foundation:1511136608 icd11.foundation:2078467774 amyloidosis MONDO:0018615 hemicrania continua MONDO:0015530 icd11.foundation:1093161847 icd11.foundation:607078588 trigeminal autonomic cephalalgia MONDO:0018634 hereditary amyloidosis MONDO:0019065 icd11.foundation:1152878652 icd11.foundation:2078467774 amyloidosis MONDO:0018645 IgG4-related sclerosing cholangitis MONDO:0017287 icd11.foundation:1676971795 icd11.foundation:99883782 IgG4-related disease MONDO:0018662 autosomal recessive brachyolmia MONDO:0015262 icd11.foundation:625421044 icd11.foundation:1255949169 brachyolmia MONDO:0018671 IgG4-related kidney disease MONDO:0017287 icd11.foundation:1877692678 icd11.foundation:99883782 IgG4-related disease MONDO:0018672 IgG4-related aortitis MONDO:0017287 icd11.foundation:593151236 icd11.foundation:99883782 IgG4-related disease MONDO:0018673 IgG4-related pachymeningitis MONDO:0017287 icd11.foundation:1140264879 icd11.foundation:99883782 IgG4-related disease MONDO:0018674 IgG4-related submandibular gland disease MONDO:0017287 icd11.foundation:588811750 icd11.foundation:99883782 IgG4-related disease MONDO:0018676 eosinophilic angiocentric fibrosis MONDO:0017287 icd11.foundation:57609544 icd11.foundation:99883782 IgG4-related disease MONDO:0018679 primary cutaneous plasmacytosis MONDO:0017287 icd11.foundation:1669369613 icd11.foundation:99883782 IgG4-related disease MONDO:0018680 cutaneous pseudolymphoma MONDO:0017287 icd11.foundation:1620802923 icd11.foundation:99883782 IgG4-related disease MONDO:0018768 familial cold autoinflammatory syndrome MONDO:0016168 icd11.foundation:1932140025 icd11.foundation:2139918612 cryopyrin-associated periodic syndrome MONDO:0018842 primary effusion lymphoma MONDO:0018905 icd11.foundation:697911710 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0018845 focal myositis MONDO:0020122 icd11.foundation:708931518 icd11.foundation:464294586 acquired idiopathic inflammatory myopathy MONDO:0018848 IgG4-related retroperitoneal fibrosis MONDO:0017287 icd11.foundation:900354709 icd11.foundation:99883782 IgG4-related disease MONDO:0018855 keratosis pilaris atrophicans MONDO:0021036 icd11.foundation:273325594 icd11.foundation:1614890502 keratosis pilaris MONDO:0018857 creeping myiasis MONDO:0020568 icd11.foundation:1282509430 icd11.foundation:1342682193 cutaneous myiasis MONDO:0018868 metachromatic leukodystrophy MONDO:0019046 icd11.foundation:172326564 icd11.foundation:468040251 leukodystrophy MONDO:0018868 metachromatic leukodystrophy MONDO:0019255 icd11.foundation:172326564 icd11.foundation:1875237176 sphingolipidosis MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0020087 icd11.foundation:641763399 icd11.foundation:1166232738 hereditary lipodystrophy MONDO:0018925 familial or sporadic hemiplegic migraine MONDO:0005475 icd11.foundation:1957063016 icd11.foundation:525744634 migraine with aura MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0019249 icd11.foundation:1477250013 icd11.foundation:1596128696 mucopolysaccharidosis MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0019249 icd11.foundation:2078241550 icd11.foundation:1596128696 mucopolysaccharidosis MONDO:0018941 furuncular myiasis MONDO:0020568 icd11.foundation:1861376017 icd11.foundation:1342682193 cutaneous myiasis MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0016987 icd11.foundation:1749275115 icd11.foundation:1012724153 neuroacanthocytosis MONDO:0018978 IgG4-related mediastinitis MONDO:0017287 icd11.foundation:791747341 icd11.foundation:99883782 IgG4-related disease MONDO:0018982 Niemann-Pick disease type C MONDO:0001982 icd11.foundation:812702125 icd11.foundation:398872780 Niemann-Pick disease MONDO:0018992 IgG4-related thyroid disease MONDO:0017287 icd11.foundation:1357889668 icd11.foundation:99883782 IgG4-related disease MONDO:0019008 benign recurrent intrahepatic cholestasis MONDO:0017755 icd11.foundation:288945286 icd11.foundation:1297666279 inborn disorder of bilirubin metabolism MONDO:0019018 Tako-tsubo cardiomyopathy MONDO:0004994 icd11.foundation:478139552 icd11.foundation:282225286 cardiomyopathy MONDO:0019023 cutaneous mastocytosis MONDO:0007950 icd11.foundation:1300710062 icd11.foundation:691643472 mastocytosis MONDO:0019024 mast cell sarcoma MONDO:0007950 icd11.foundation:233404891 icd11.foundation:691643472 mastocytosis MONDO:0019053 peroxisomal disease MONDO:0019052 icd11.foundation:782299726 icd11.foundation:733825440 inborn errors of metabolism MONDO:0019083 Leigh syndrome with cardiomyopathy MONDO:0009723 icd11.foundation:583594497 icd11.foundation:672871576 Leigh syndrome MONDO:0019107 Rh deficiency syndrome MONDO:0020102 icd11.foundation:1554765420 icd11.foundation:2067120097 hereditary stomatocytosis MONDO:0019113 benign paroxysmal torticollis of infancy MONDO:0016058 icd11.foundation:545726308 icd11.foundation:2047715743 paroxysmal dystonia MONDO:0019124 microscopic polyangiitis MONDO:0015492 icd11.foundation:999231798 icd11.foundation:1404622826 anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO:0019127 polymyositis MONDO:0020122 icd11.foundation:1157134196 icd11.foundation:464294586 acquired idiopathic inflammatory myopathy MONDO:0019148 Wolman disease MONDO:0800449 icd11.foundation:520367511 icd11.foundation:381622932 lysosomal acid lipase deficiency MONDO:0019149 cholesteryl ester storage disease MONDO:0800449 icd11.foundation:894336362 icd11.foundation:381622932 lysosomal acid lipase deficiency MONDO:0019197 folinic acid-responsive seizures MONDO:0019253 icd11.foundation:723504178 icd11.foundation:946446904 metabolic disease involving other neurotransmitter deficiency MONDO:0019215 classic organic aciduria MONDO:0000688 icd11.foundation:1879509617 icd11.foundation:1921636230 inborn organic aciduria MONDO:0019220 inborn disorder of cobalamin metabolism and transport MONDO:0017758 icd11.foundation:936546617 icd11.foundation:1112006621 disorder of vitamin and non-protein cofactor absorption and transport MONDO:0019234 peroxisome biogenesis disorder MONDO:0019053 icd11.foundation:1919322367 icd11.foundation:782299726 peroxisomal disease MONDO:0019248 mucolipidosis MONDO:0017731 icd11.foundation:714623911 icd11.foundation:979972142 glycoproteinosis MONDO:0019249 mucopolysaccharidosis MONDO:0002561 icd11.foundation:1596128696 icd11.foundation:656131403 lysosomal storage disease MONDO:0019251 oligosaccharidosis MONDO:0017731 icd11.foundation:1805681916 icd11.foundation:979972142 glycoproteinosis MONDO:0019259 classic phenylketonuria MONDO:0009861 icd11.foundation:2084504393 icd11.foundation:444122923 phenylketonuria MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0016295 icd11.foundation:1460031344 icd11.foundation:1568332253 neuronal ceroid lipofuscinosis MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0016295 icd11.foundation:797123687 icd11.foundation:1568332253 neuronal ceroid lipofuscinosis MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0016295 icd11.foundation:1716107919 icd11.foundation:1568332253 neuronal ceroid lipofuscinosis MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0017779 icd11.foundation:1639349183 icd11.foundation:1647881428 alpha-N-acetylgalactosaminidase deficiency MONDO:0019306 congenital non-bullous ichthyosiform erythroderma MONDO:0017265 icd11.foundation:546439698 icd11.foundation:430849255 autosomal recessive congenital ichthyosis MONDO:0019314 cutaneous mastocytoma MONDO:0019023 icd11.foundation:1853236564 icd11.foundation:1300710062 cutaneous mastocytosis MONDO:0019315 diffuse cutaneous mastocytosis MONDO:0019023 icd11.foundation:193128939 icd11.foundation:1300710062 cutaneous mastocytosis MONDO:0019316 maculopapular cutaneous mastocytosis MONDO:0019023 icd11.foundation:245322245 icd11.foundation:1300710062 cutaneous mastocytosis MONDO:0019322 pemphigus vegetans MONDO:0008219 icd11.foundation:1977394957 icd11.foundation:278358681 pemphigus vulgaris MONDO:0019324 pemphigus foliaceus MONDO:0006594 icd11.foundation:24246260 icd11.foundation:191659986 pemphigus MONDO:0019327 phakomatosis spilorosea MONDO:0017318 icd11.foundation:1064958823 icd11.foundation:1768130414 phakomatosis pigmentovascularis MONDO:0019346 sialidosis type 1 MONDO:0017734 icd11.foundation:1154773192 icd11.foundation:1180347697 sialidosis MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0019222 icd11.foundation:681037681 icd11.foundation:67872354 inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO:0019359 Rocky mountain spotted fever MONDO:0001195 icd11.foundation:215936800 icd11.foundation:9953620 spotted fever MONDO:0019362 epidemic louse-borne typhus MONDO:0001246 icd11.foundation:295798687 icd11.foundation:292650041 typhus MONDO:0019365 scrub typhus MONDO:0001246 icd11.foundation:1695340384 icd11.foundation:292650041 typhus MONDO:0019371 narcolepsy without cataplexy MONDO:0021107 icd11.foundation:1494673323 icd11.foundation:1201727099 narcolepsy MONDO:0019408 Astley-Kendall dysplasia MONDO:0019701 icd11.foundation:1367227076 icd11.foundation:1923035846 chondrodysplasia punctata MONDO:0019409 idiopathic juvenile osteoporosis MONDO:0005298 icd11.foundation:183642011 icd11.foundation:2113001430 osteoporosis MONDO:0019411 genochondromatosis type 1 MONDO:0007653 icd11.foundation:521879469 icd11.foundation:1222756922 genochondromatosis MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:0011429 icd11.foundation:1990556904 icd11.foundation:1322678686 juvenile idiopathic arthritis MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:0011429 icd11.foundation:504387587 icd11.foundation:1322678686 juvenile idiopathic arthritis MONDO:0019436 psoriasis-related juvenile idiopathic arthritis MONDO:0011429 icd11.foundation:1473955563 icd11.foundation:1322678686 juvenile idiopathic arthritis MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0011429 icd11.foundation:1128255226 icd11.foundation:1322678686 juvenile idiopathic arthritis MONDO:0019438 AL amyloidosis MONDO:0019065 icd11.foundation:1061366491 icd11.foundation:2078467774 amyloidosis MONDO:0019439 AA amyloidosis MONDO:0019065 icd11.foundation:570181034 icd11.foundation:2078467774 amyloidosis MONDO:0019440 wild type ABeta2M amyloidosis MONDO:0018590 icd11.foundation:499046814 icd11.foundation:448754119 ABeta2M amyloidosis MONDO:0019466 lymphomatoid granulomatosis MONDO:0018905 icd11.foundation:1890408959 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0019483 methotrexate-associated lymphoproliferative disorders MONDO:0020083 icd11.foundation:1520483526 icd11.foundation:1678636940 immunodeficiency-associated lymphoproliferative disease MONDO:0019517 Waardenburg syndrome type 2 MONDO:0018094 icd11.foundation:746815303 icd11.foundation:304883627 Waardenburg syndrome MONDO:0019524 Bartter syndrome type 4 MONDO:0015231 icd11.foundation:959024909 icd11.foundation:777233947 Bartter syndrome MONDO:0019532 autoimmune hemolytic anemia, warm type MONDO:0020108 icd11.foundation:880772122 icd11.foundation:1834341306 autoimmune hemolytic anemia MONDO:0019534 mixed-type autoimmune hemolytic anemia MONDO:0020108 icd11.foundation:1878239449 icd11.foundation:1834341306 autoimmune hemolytic anemia MONDO:0019558 discoid lupus erythematosus MONDO:0015574 icd11.foundation:2144907708 icd11.foundation:1849568465 chronic cutaneous lupus erythematosus MONDO:0019560 lupus erythematosus tumidus MONDO:0015574 icd11.foundation:153320433 icd11.foundation:1849568465 chronic cutaneous lupus erythematosus MONDO:0019569 Cockayne syndrome type 1 MONDO:0016006 icd11.foundation:1271368066 icd11.foundation:1206275070 Cockayne syndrome MONDO:0019570 Cockayne syndrome type 2 MONDO:0016006 icd11.foundation:1604701958 icd11.foundation:1206275070 Cockayne syndrome MONDO:0019574 secondary intestinal lymphangiectasia MONDO:0018178 icd11.foundation:1730894033 icd11.foundation:1255239964 intestinal lymphangiectasia MONDO:0019636 renal agenesis, unilateral MONDO:0018470 icd11.foundation:760295498 icd11.foundation:683319223 renal agenesis MONDO:0019648 achondrogenesis MONDO:0019694 icd11.foundation:103965243 icd11.foundation:329165933 spondylodysplastic dysplasia MONDO:0019659 Pfeiffer syndrome type 1 MONDO:0007043 icd11.foundation:490354109 icd11.foundation:1075159878 Pfeiffer syndrome MONDO:0019660 Pfeiffer syndrome type 2 MONDO:0007043 icd11.foundation:531949642 icd11.foundation:1075159878 Pfeiffer syndrome MONDO:0019661 Pfeiffer syndrome type 3 MONDO:0007043 icd11.foundation:1910513449 icd11.foundation:1075159878 Pfeiffer syndrome MONDO:0019662 short rib-polydactyly syndrome, Majewski type MONDO:0015461 icd11.foundation:132740256 icd11.foundation:960900212 short rib-polydactyly syndrome MONDO:0019665 monostotic fibrous dysplasia MONDO:0000845 icd11.foundation:1033883899 icd11.foundation:1704766818 fibrous dysplasia MONDO:0019680 genochondromatosis type 2 MONDO:0007653 icd11.foundation:1033432522 icd11.foundation:1222756922 genochondromatosis MONDO:0019681 juvenile sialidosis type 2 MONDO:0009738 icd11.foundation:1730484030 icd11.foundation:1855856697 sialidosis type 2 MONDO:0019682 congenital sialidosis type 2 MONDO:0009738 icd11.foundation:1994237121 icd11.foundation:1855856697 sialidosis type 2 MONDO:0019734 juvenile polymyositis MONDO:0019127 icd11.foundation:633330307 icd11.foundation:1157134196 polymyositis MONDO:0019745 cystinuria type A MONDO:0009067 icd11.foundation:1172657361 icd11.foundation:1237620397 cystinuria MONDO:0019746 cystinuria type B MONDO:0009067 icd11.foundation:491796307 icd11.foundation:1237620397 cystinuria MONDO:0019754 multicentric Castleman disease MONDO:0015564 icd11.foundation:1590444463 icd11.foundation:1940989685 Castleman disease MONDO:0019756 lobar holoprosencephaly MONDO:0016296 icd11.foundation:121649206 icd11.foundation:1712699129 holoprosencephaly MONDO:0019757 alobar holoprosencephaly MONDO:0016296 icd11.foundation:381193163 icd11.foundation:1712699129 holoprosencephaly MONDO:0019767 hamel cerebro-palato-cardiac syndrome MONDO:0010653 icd11.foundation:1903143844 icd11.foundation:1415315699 Renpenning syndrome MONDO:0019789 cytophagic histiocytic panniculitis MONDO:0006591 icd11.foundation:1978274002 icd11.foundation:1056888958 panniculitis MONDO:0019797 acrodysostosis MONDO:0015483 icd11.foundation:477546932 icd11.foundation:470731247 mandibulofacial dysostosis MONDO:0019846 acquired central diabetes insipidus MONDO:0015790 icd11.foundation:1677009817 icd11.foundation:1009553897 central diabetes insipidus MONDO:0019942 distal arthrogryposis MONDO:0015225 icd11.foundation:1265239690 icd11.foundation:1692487835 arthrogryposis syndrome MONDO:0019950 congenital muscular dystrophy MONDO:0020121 icd11.foundation:396687076 icd11.foundation:1464662404 muscular dystrophy MONDO:0019970 Sinding-Larsen-Johansson disease MONDO:0018381 icd11.foundation:1733785551 icd11.foundation:1446309782 osteochondrosis MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion MONDO:0017609 icd11.foundation:122234138 icd11.foundation:191424358 renal tubular dysgenesis MONDO:0020088 familial partial lipodystrophy MONDO:0020087 icd11.foundation:1661968243 icd11.foundation:1166232738 hereditary lipodystrophy MONDO:0020213 stromal corneal dystrophy MONDO:0018102 icd11.foundation:1392780216 icd11.foundation:1291475891 corneal dystrophy MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0018905 icd11.foundation:950282079 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0020324 intravascular large B-cell lymphoma MONDO:0018905 icd11.foundation:952730197 icd11.foundation:1946973604 diffuse large B-cell lymphoma MONDO:0020326 lymphomatoid papulosis MONDO:0018897 icd11.foundation:1791207220 icd11.foundation:1046496266 primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO:0020331 indolent systemic mastocytosis MONDO:0016586 icd11.foundation:353283231 icd11.foundation:1144812971 systemic mastocytosis MONDO:0020333 aggressive systemic mastocytosis MONDO:0016586 icd11.foundation:870477963 icd11.foundation:1144812971 systemic mastocytosis MONDO:0020340 bilateral perisylvian polymicrogyria MONDO:0017091 icd11.foundation:1882677643 icd11.foundation:422828750 bilateral polymicrogyria MONDO:0020341 periventricular nodular heterotopia MONDO:0016292 icd11.foundation:20200096 icd11.foundation:143592859 nodular neuronal heterotopia MONDO:0020352 multiple system atrophy, parkinsonian type MONDO:0007803 icd11.foundation:296753000 icd11.foundation:1890931931 multiple system atrophy MONDO:0020362 inverse Marcus-Gunn phenomenon MONDO:0007946 icd11.foundation:348052110 icd11.foundation:590216180 jaw-winking syndrome MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0020214 icd11.foundation:935421185 icd11.foundation:570101963 posterior corneal dystrophy MONDO:0020369 Chandler syndrome MONDO:0018988 icd11.foundation:806443940 icd11.foundation:265074385 iridocorneal endothelial syndrome MONDO:0020370 Cogan-Reese syndrome MONDO:0018988 icd11.foundation:1968906450 icd11.foundation:265074385 iridocorneal endothelial syndrome MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect MONDO:0018089 icd11.foundation:1963185163 icd11.foundation:141717788 double outlet right ventricle MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect MONDO:0018089 icd11.foundation:2032277111 icd11.foundation:141717788 double outlet right ventricle MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction MONDO:0019236 icd11.foundation:1200845933 icd11.foundation:1958565793 inborn disorder of purine metabolism MONDO:0020466 monosomy X MONDO:0019499 icd11.foundation:95979116 icd11.foundation:1987089698 Turner syndrome MONDO:0020473 dappled diaphyseal dysplasia MONDO:0019701 icd11.foundation:2067032637 icd11.foundation:1923035846 chondrodysplasia punctata MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0019358 icd11.foundation:819219337 icd11.foundation:681037681 encephalopathy due to sulfite oxidase deficiency MONDO:0020481 myotonia fluctuans MONDO:0018959 icd11.foundation:1294270721 icd11.foundation:1707250468 potassium-aggravated myotonia MONDO:0020482 myotonia permanens MONDO:0018959 icd11.foundation:2133644550 icd11.foundation:1707250468 potassium-aggravated myotonia MONDO:0020483 acetazolamide-responsive myotonia MONDO:0018959 icd11.foundation:1452993937 icd11.foundation:1707250468 potassium-aggravated myotonia MONDO:0020487 Pontiac fever MONDO:0005823 icd11.foundation:1670562980 icd11.foundation:390042715 legionellosis MONDO:0020496 familial porencephaly MONDO:0017410 icd11.foundation:1833583032 icd11.foundation:137059367 porencephaly MONDO:0020517 eosinophilic granuloma MONDO:0018310 icd11.foundation:1377407737 icd11.foundation:216625985 Langerhans cell histiocytosis MONDO:0020525 transient neonatal diabetes mellitus MONDO:0016391 icd11.foundation:1596856936 icd11.foundation:1217915084 neonatal diabetes mellitus MONDO:0020527 ectopic Cushing syndrome MONDO:0020528 icd11.foundation:1646144829 icd11.foundation:212778081 ACTH-dependent Cushing syndrome MONDO:0020528 ACTH-dependent Cushing syndrome MONDO:0018912 icd11.foundation:212778081 icd11.foundation:1654321425 Cushing syndrome MONDO:0020529 ACTH-independent Cushing syndrome MONDO:0018912 icd11.foundation:652536990 icd11.foundation:1654321425 Cushing syndrome MONDO:0020532 spirillary rat-bite fever MONDO:0006941 icd11.foundation:1104357482 icd11.foundation:1026551291 rat-bite fever MONDO:0020533 streptobacillary rat-bite fever MONDO:0006941 icd11.foundation:614000128 icd11.foundation:1026551291 rat-bite fever MONDO:0020544 streptococcal toxic-shock syndrome MONDO:0001881 icd11.foundation:197163558 icd11.foundation:114886962 toxic shock syndrome MONDO:0020545 staphylococcal toxic-shock syndrome MONDO:0001881 icd11.foundation:788554020 icd11.foundation:114886962 toxic shock syndrome MONDO:0020546 acute graft versus host disease MONDO:0013730 icd11.foundation:83784921 icd11.foundation:437372167 graft versus host disease MONDO:0020547 chronic graft versus host disease MONDO:0013730 icd11.foundation:621183043 icd11.foundation:437372167 graft versus host disease MONDO:0020550 gestational choriocarcinoma MONDO:0018944 icd11.foundation:2136066651 icd11.foundation:1972855304 gestational trophoblastic neoplasm MONDO:0020554 Heiner syndrome MONDO:0020553 icd11.foundation:187112249 icd11.foundation:878618614 secondary pulmonary hemosiderosis MONDO:0020568 cutaneous myiasis MONDO:0019147 icd11.foundation:1342682193 icd11.foundation:1367149207 myiasis MONDO:0020575 polymorphic ventricular tachycardia MONDO:0005477 icd11.foundation:16452928 icd11.foundation:1171837620 ventricular tachycardia MONDO:0020757 sporadic hemiplegic migraine MONDO:0018925 icd11.foundation:1303340532 icd11.foundation:1957063016 familial or sporadic hemiplegic migraine MONDO:0020863 laryngeal diphtheria MONDO:0005504 icd11.foundation:1101542926 icd11.foundation:508032285 diphtheria MONDO:0021008 secondary antiphospholipid syndrome MONDO:8000010 icd11.foundation:138987181 icd11.foundation:1173370808 antiphospholipid syndrome MONDO:0021019 X-linked recessive ocular albinism MONDO:0017304 icd11.foundation:846740259 icd11.foundation:1147926040 ocular albinism MONDO:0021020 Crigler-Najjar syndrome type 1 MONDO:0009044 icd11.foundation:1098453659 icd11.foundation:291439191 Crigler-Najjar syndrome MONDO:0021022 hereditary hyperekplexia MONDO:0019253 icd11.foundation:988250063 icd11.foundation:946446904 metabolic disease involving other neurotransmitter deficiency MONDO:0021132 tertiary hyperparathyroidism MONDO:0001741 icd11.foundation:10683191 icd11.foundation:9633776 hyperparathyroidism MONDO:0021176 autoimmune hepatitis type 2 MONDO:0016264 icd11.foundation:61111843 icd11.foundation:1235727122 autoimmune hepatitis MONDO:0021177 autoimmune hepatitis type 3 MONDO:0016264 icd11.foundation:607786920 icd11.foundation:1235727122 autoimmune hepatitis MONDO:0021204 chronic otitis media MONDO:0005441 icd11.foundation:38010200 icd11.foundation:1079654421 otitis media MONDO:0021273 leiomyoma of ciliary body MONDO:0021486 icd11.foundation:99905286 icd11.foundation:1138156221 benign neoplasm of ciliary body MONDO:0021377 hypertrophic lichen planus MONDO:0006572 icd11.foundation:1096967508 icd11.foundation:1402978031 lichen planus MONDO:0021468 benign neoplasm of adrenal medulla MONDO:0021511 icd11.foundation:1573786673 icd11.foundation:2121003176 benign neoplasm of adrenal gland MONDO:0021505 benign neoplasm of endocardium MONDO:0021450 icd11.foundation:1776419379 icd11.foundation:991198048 benign neoplasm of heart MONDO:0021508 benign neoplasm of epicardium MONDO:0021450 icd11.foundation:1295571347 icd11.foundation:991198048 benign neoplasm of heart MONDO:0021509 benign neoplasm of myocardium MONDO:0021450 icd11.foundation:2097885721 icd11.foundation:991198048 benign neoplasm of heart MONDO:0022098 catamenial pneumothorax MONDO:0002076 icd11.foundation:1744257132 icd11.foundation:1946559257 pneumothorax MONDO:0022205 pustular psoriasis MONDO:0005083 icd11.foundation:64081271 icd11.foundation:63698555 psoriasis MONDO:0023188 Freiberg disease MONDO:0018381 icd11.foundation:74359553 icd11.foundation:1446309782 osteochondrosis MONDO:0023246 linear porokeratosis MONDO:0006602 icd11.foundation:1622319802 icd11.foundation:29524620 porokeratosis MONDO:0023282 granulomatous hypophysitis MONDO:0021156 icd11.foundation:1410645474 icd11.foundation:1589682285 hypophysitis MONDO:0023297 guttate psoriasis MONDO:0005083 icd11.foundation:1202062855 icd11.foundation:63698555 psoriasis MONDO:0023646 lipodermatosclerosis MONDO:0006591 icd11.foundation:473315619 icd11.foundation:1056888958 panniculitis MONDO:0024182 dry beriberi MONDO:0006676 icd11.foundation:582233757 icd11.foundation:632832064 beriberi MONDO:0024183 wet beriberi MONDO:0006676 icd11.foundation:1753713002 icd11.foundation:632832064 beriberi MONDO:0024228 miliaria profunda MONDO:0006580 icd11.foundation:1540615212 icd11.foundation:204420062 miliaria MONDO:0024229 miliaria crystallina MONDO:0006580 icd11.foundation:796835029 icd11.foundation:204420062 miliaria MONDO:0024283 Demodex folliculitis MONDO:0017280 icd11.foundation:1602267881 icd11.foundation:1473144548 demodicidosis MONDO:0024335 retrobulbar neuritis MONDO:0005885 icd11.foundation:63567539 icd11.foundation:210935787 optic neuritis MONDO:0024650 drug-induced osteoporosis MONDO:0005298 icd11.foundation:691296096 icd11.foundation:2113001430 osteoporosis MONDO:0031014 autoimmune gastritis MONDO:0004966 icd11.foundation:248006617 icd11.foundation:1871672644 gastritis MONDO:0035149 secondary erythromelalgia MONDO:0016028 icd11.foundation:1009405597 icd11.foundation:838760425 erythromelalgia MONDO:0035401 isolated anencephaly MONDO:0000819 icd11.foundation:452325024 icd11.foundation:1292761836 anencephaly MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies MONDO:0019100 icd11.foundation:73324466 icd11.foundation:744293382 neuromyelitis optica MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies MONDO:0019100 icd11.foundation:605048789 icd11.foundation:744293382 neuromyelitis optica MONDO:0037398 pneumonia caused by pseudomonas aeruginosa infection MONDO:0004652 icd11.foundation:801706385 icd11.foundation:1323682030 bacterial pneumonia MONDO:0040925 latent yaws MONDO:0006019 icd11.foundation:247169608 icd11.foundation:840525023 yaws MONDO:0041751 multibacillary leprosy MONDO:0005124 icd11.foundation:1123804548 icd11.foundation:149072669 leprosy MONDO:0041752 paucibacillary leprosy MONDO:0005124 icd11.foundation:1800264981 icd11.foundation:149072669 leprosy MONDO:0043219 migraine with brainstem aura MONDO:0005475 icd11.foundation:2022157084 icd11.foundation:525744634 migraine with aura MONDO:0043300 actinic cheilitis MONDO:0002102 icd11.foundation:436658980 icd11.foundation:482914030 cheilitis MONDO:0043762 tubal pregnancy MONDO:0000755 icd11.foundation:913821868 icd11.foundation:1563334645 ectopic pregnancy MONDO:0043994 acute cholecystitis MONDO:0002155 icd11.foundation:2071113448 icd11.foundation:786251500 cholecystitis MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome MONDO:0019810 icd11.foundation:496418968 icd11.foundation:195467267 toxic epidermal necrolysis MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0004952 icd11.foundation:331115338 icd11.foundation:1528863768 Hodgkins lymphoma MONDO:0045023 acquired adrenogenital syndrome MONDO:0015898 icd11.foundation:1228689964 icd11.foundation:131153029 adrenogenital syndrome MONDO:0045047 neurosarcoidosis MONDO:0019338 icd11.foundation:1479285656 icd11.foundation:330792642 sarcoidosis MONDO:0100057 food-dependent exercise-induced anaphylaxis MONDO:0100056 icd11.foundation:854135859 icd11.foundation:1069179856 exercise-induced anaphylaxis MONDO:0100130 adult acute respiratory distress syndrome MONDO:0006502 icd11.foundation:1466842111 icd11.foundation:1189702844 acute respiratory distress syndrome MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0016391 icd11.foundation:33655955 icd11.foundation:1217915084 neonatal diabetes mellitus MONDO:0100285 extrahepatic biliary atresia MONDO:0008867 icd11.foundation:1813934523 icd11.foundation:645741117 biliary atresia MONDO:0100459 azoospermia MONDO:0005372 icd11.foundation:532688254 icd11.foundation:753457327 male infertility MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0018158 icd11.foundation:1285620325 icd11.foundation:1159345506 mitochondrial DNA depletion syndrome MONDO:0800305 myelofibrosis with myeloid metaplasia MONDO:0009692 icd11.foundation:673220507 icd11.foundation:336704235 primary myelofibrosis MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0016295 icd11.foundation:641209188 icd11.foundation:1568332253 neuronal ceroid lipofuscinosis MONDO:0850231 erythema nodosum MONDO:0006591 icd11.foundation:1628519266 icd11.foundation:1056888958 panniculitis MONDO:0850420 acute necrotizing pancreatitis MONDO:0006515 icd11.foundation:2063881303 icd11.foundation:698285441 acute pancreatitis MONDO:0968955 hypocalcified amelogenesis imperfecta MONDO:0019507 icd11.foundation:1793262466 icd11.foundation:1923123066 amelogenesis imperfecta MONDO:1030011 paroxysmal atrial fibrillation MONDO:0004981 icd11.foundation:542703670 icd11.foundation:171698302 atrial fibrillation MONDO:0000147 polyposis MONDO:0021075 NCIT:C4089 NCIT:C7068 neoplastic polyp MONDO:0000371 oral cavity carcinoma in situ MONDO:0044925 NCIT:C4587 NCIT:C8990 oral cavity carcinoma MONDO:0000372 pharynx carcinoma in situ MONDO:0004647 NCIT:C4942 NCIT:C2917 in situ carcinoma MONDO:0000372 pharynx carcinoma in situ MONDO:0021345 NCIT:C4942 NCIT:C9466 carcinoma of pharynx MONDO:0000376 respiratory system cancer MONDO:0004992 NCIT:C4571 NCIT:C9305 cancer MONDO:0000377 malignant Leydig cell tumor MONDO:0006266 NCIT:C4213 NCIT:C3188 Leydig cell tumor MONDO:0000378 malignant Sertoli cell tumor MONDO:0002696 NCIT:C67006 NCIT:C39976 Sertoli cell tumor MONDO:0000380 paranasal sinus carcinoma MONDO:0020669 NCIT:C6014 NCIT:C7487 paranasal sinus cancer MONDO:0000380 paranasal sinus carcinoma MONDO:0056819 NCIT:C6014 NCIT:C54293 nasal cavity and paranasal sinus carcinoma MONDO:0000382 respiratory system benign neoplasm MONDO:0005165 NCIT:C8531 NCIT:C3677 benign neoplasm MONDO:0000383 benign reproductive system neoplasm MONDO:0006054 NCIT:C7617 NCIT:C3674 reproductive system neoplasm MONDO:0000384 bladder benign neoplasm MONDO:0004180 NCIT:C3618 NCIT:C192667 benign urinary system neoplasm MONDO:0000384 bladder benign neoplasm MONDO:0004987 NCIT:C3618 NCIT:C2901 urinary bladder neoplasm MONDO:0000385 benign digestive system neoplasm MONDO:0005165 NCIT:C4787 NCIT:C3677 benign neoplasm MONDO:0000385 benign digestive system neoplasm MONDO:0021223 NCIT:C4787 NCIT:C3052 digestive system neoplasm MONDO:0000386 digestive system neuroendocrine tumor, grade 1/2 MONDO:0024503 NCIT:C95404 NCIT:C27721 digestive system neuroendocrine neoplasm MONDO:0000402 small cell carcinoma MONDO:0002120 NCIT:C3915 NCIT:C3773 neuroendocrine carcinoma MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0005169 NCIT:C3468 NCIT:C27909 neoplasm of mature T-cells or NK-cells MONDO:0000430 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0015760 NCIT:C3468 NCIT:C3466 T-cell non-Hodgkin lymphoma MONDO:0000448 paraganglioma MONDO:0002366 NCIT:C3308 NCIT:C5112 autonomic nervous system neoplasm MONDO:0000448 paraganglioma MONDO:0019496 NCIT:C3308 NCIT:C3809 neuroendocrine neoplasm MONDO:0000500 tongue squamous cell carcinoma MONDO:0004958 NCIT:C4648 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0000503 lung adenocarcinoma in situ MONDO:0003218 NCIT:C136486 NCIT:C4123 adenocarcinoma in situ MONDO:0000503 lung adenocarcinoma in situ MONDO:0005061 NCIT:C136486 NCIT:C3512 lung adenocarcinoma MONDO:0000518 sacrum chordoma MONDO:0002894 NCIT:C129927 NCIT:C5156 spinal chordoma MONDO:0000521 salivary gland carcinoma MONDO:0004669 NCIT:C9272 NCIT:C3811 salivary gland cancer MONDO:0000525 cecum villous adenoma MONDO:0021271 NCIT:C5520 NCIT:C3495 villous adenoma of colon MONDO:0000527 colon adenoma MONDO:0005484 NCIT:C3864 NCIT:C5673 colorectal adenoma MONDO:0000530 rectum adenoma MONDO:0005484 NCIT:C5546 NCIT:C5673 colorectal adenoma MONDO:0000532 lung combined type small cell adenocarcinoma MONDO:0003438 NCIT:C9379 NCIT:C9137 combined small cell lung carcinoma MONDO:0000536 pharyngeal squamous cell carcinoma MONDO:0010150 NCIT:C102872 NCIT:C34447 head and neck squamous cell carcinoma MONDO:0000536 pharyngeal squamous cell carcinoma MONDO:0021345 NCIT:C102872 NCIT:C9466 carcinoma of pharynx MONDO:0000540 small intestinal neuroendocrine tumor G1 MONDO:0002995 NCIT:C4638 NCIT:C96061 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0000540 small intestinal neuroendocrine tumor G1 MONDO:0021533 NCIT:C4638 NCIT:C4637 intestinal neuroendocrine tumor G1 MONDO:0000541 jejunal adenocarcinoma MONDO:0003198 NCIT:C181158 NCIT:C7888 small intestine adenocarcinoma MONDO:0000544 mucosal melanoma MONDO:0006320 NCIT:C114828 NCIT:C8711 non-cutaneous melanoma MONDO:0000548 ovarian clear cell cancer MONDO:0018364 NCIT:C40077 NCIT:C40026 malignant epithelial tumor of ovary MONDO:0000548 ovarian clear cell cancer MONDO:0021144 NCIT:C40077 NCIT:C40076 ovarian clear cell tumor MONDO:0000550 extra-adrenal sympathetic paraganglioma MONDO:0021072 NCIT:C48576 NCIT:C4216 sympathetic paraganglioma MONDO:0000552 breast lobular carcinoma MONDO:0004988 NCIT:C3771 NCIT:C5214 breast adenocarcinoma MONDO:0000620 breast benign neoplasm MONDO:0021100 NCIT:C4505 NCIT:C2910 breast neoplasm MONDO:0000624 benign female reproductive system neoplasm MONDO:0000383 NCIT:C4934 NCIT:C7617 benign reproductive system neoplasm MONDO:0000624 benign female reproductive system neoplasm MONDO:0021148 NCIT:C4934 NCIT:C3053 female reproductive system neoplasm MONDO:0000625 benign male reproductive system neoplasm MONDO:0000383 NCIT:C4777 NCIT:C7617 benign reproductive system neoplasm MONDO:0000627 benign endocrine neoplasm MONDO:0002082 NCIT:C4621 NCIT:C3010 endocrine gland neoplasm MONDO:0000628 central nervous system organ benign neoplasm MONDO:0000648 NCIT:C188049 NCIT:C4789 nervous system benign neoplasm MONDO:0000631 bone benign neoplasm MONDO:0019060 NCIT:C4880 NCIT:C9343 bone neoplasm MONDO:0000632 uterine benign neoplasm MONDO:0000624 NCIT:C3609 NCIT:C4934 benign female reproductive system neoplasm MONDO:0000632 uterine benign neoplasm MONDO:0021353 NCIT:C3609 NCIT:C3435 tumor of uterus MONDO:0000634 thoracic benign neoplasm MONDO:0005165 NCIT:C4565 NCIT:C3677 benign neoplasm MONDO:0000634 thoracic benign neoplasm MONDO:0021350 NCIT:C4565 NCIT:C3406 neoplasm of thorax MONDO:0000637 musculoskeletal system cancer MONDO:0004992 NCIT:C166357 NCIT:C9305 cancer MONDO:0000643 vulvar benign neoplasm MONDO:0000624 NCIT:C3611 NCIT:C4934 benign female reproductive system neoplasm MONDO:0000643 vulvar benign neoplasm MONDO:0021049 NCIT:C3611 NCIT:C3443 vulvar neoplasm MONDO:0000644 cervical benign neoplasm MONDO:0000632 NCIT:C3607 NCIT:C3609 uterine benign neoplasm MONDO:0000644 cervical benign neoplasm MONDO:0021230 NCIT:C3607 NCIT:C2940 uterine cervix neoplasm MONDO:0000645 fallopian tube benign neoplasm MONDO:0000624 NCIT:C4517 NCIT:C4934 benign female reproductive system neoplasm MONDO:0000645 fallopian tube benign neoplasm MONDO:0021092 NCIT:C4517 NCIT:C3032 fallopian tube neoplasm MONDO:0000646 ovarian benign neoplasm MONDO:0000624 NCIT:C2895 NCIT:C4934 benign female reproductive system neoplasm MONDO:0000646 ovarian benign neoplasm MONDO:0021068 NCIT:C2895 NCIT:C4984 ovarian neoplasm MONDO:0000647 benign vaginal neoplasm MONDO:0000624 NCIT:C3610 NCIT:C4934 benign female reproductive system neoplasm MONDO:0000647 benign vaginal neoplasm MONDO:0021050 NCIT:C3610 NCIT:C3437 vaginal neoplasm MONDO:0000648 nervous system benign neoplasm MONDO:0005165 NCIT:C4789 NCIT:C3677 benign neoplasm MONDO:0000648 nervous system benign neoplasm MONDO:0021248 NCIT:C4789 NCIT:C3268 nervous system neoplasm MONDO:0000650 peritoneal benign neoplasm MONDO:0006901 NCIT:C8612 NCIT:C3322 peritoneal neoplasm MONDO:0000654 benign connective and soft tissue neoplasm MONDO:0044334 NCIT:C53684 NCIT:C3810 connective and soft tissue neoplasm MONDO:0000814 B-cell adult acute lymphocytic leukemia MONDO:0003541 NCIT:C9143 NCIT:C4967 adult acute lymphoblastic leukemia MONDO:0000814 B-cell adult acute lymphocytic leukemia MONDO:0020511 NCIT:C9143 NCIT:C8644 precursor B-cell acute lymphoblastic leukemia MONDO:0000870 childhood acute lymphoblastic leukemia MONDO:0004967 NCIT:C3168 NCIT:C3167 acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0000870 NCIT:C7953 NCIT:C3168 childhood acute lymphoblastic leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0004403 NCIT:C7953 NCIT:C5640 childhood precursor T-lymphoblastic lymphoma/leukemia MONDO:0000871 T-cell childhood acute lymphocytic leukemia MONDO:0004963 NCIT:C7953 NCIT:C3183 T-cell acute lymphoblastic leukemia MONDO:0000872 B-cell childhood acute lymphoblastic leukemia MONDO:0000870 NCIT:C9140 NCIT:C3168 childhood acute lymphoblastic leukemia MONDO:0000872 B-cell childhood acute lymphoblastic leukemia MONDO:0020511 NCIT:C9140 NCIT:C8644 precursor B-cell acute lymphoblastic leukemia MONDO:0000873 lymphoblastic lymphoma MONDO:0003538 NCIT:C9360 NCIT:C7055 precursor lymphoblastic lymphoma/leukemia MONDO:0000873 lymphoblastic lymphoma MONDO:0018908 NCIT:C9360 NCIT:C3211 non-Hodgkin lymphoma MONDO:0000874 T-cell childhood lymphoblastic lymphoma MONDO:0004403 NCIT:C7210 NCIT:C5640 childhood precursor T-lymphoblastic lymphoma/leukemia MONDO:0000875 adult acute monocytic leukemia MONDO:0007896 NCIT:C8263 NCIT:C4861 acute monocytic leukemia MONDO:0000892 colon medullary carcinoma MONDO:0002271 NCIT:C60641 NCIT:C4349 colon adenocarcinoma MONDO:0000892 colon medullary carcinoma MONDO:0020794 NCIT:C60641 NCIT:C43590 colorectal medullary carcinoma MONDO:0000893 mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma MONDO:0004991 NCIT:C7270 NCIT:C2923 minimally invasive lung adenocarcinoma MONDO:0000895 nonmucinous bronchioloalveolar adenocarcinoma MONDO:0004991 NCIT:C7269 NCIT:C2923 minimally invasive lung adenocarcinoma MONDO:0000919 ampulla of vater cancer MONDO:0000921 NCIT:C3536 NCIT:C4443 ampulla of vater neoplasm MONDO:0000920 duodenum cancer MONDO:0000956 NCIT:C9328 NCIT:C7523 small intestine cancer MONDO:0000920 duodenum cancer MONDO:0021375 NCIT:C9328 NCIT:C2995 tumor of duodenum MONDO:0000928 eyelid melanoma MONDO:0006325 NCIT:C4358 NCIT:C8562 ocular melanoma MONDO:0000928 eyelid melanoma MONDO:0021313 NCIT:C4358 NCIT:C6786 eyelid cancer MONDO:0000929 balloon cell malignant melanoma MONDO:0005012 NCIT:C4227 NCIT:C3510 cutaneous melanoma MONDO:0000930 nodular malignant melanoma MONDO:0005012 NCIT:C4225 NCIT:C3510 cutaneous melanoma MONDO:0000933 subglottis neoplasm MONDO:0021071 NCIT:C4426 NCIT:C3156 laryngeal neoplasm MONDO:0000935 larynx squamous papilloma MONDO:0001825 NCIT:C7742 NCIT:C3712 squamous papilloma MONDO:0000935 larynx squamous papilloma MONDO:0002354 NCIT:C7742 NCIT:C3601 benign laryngeal neoplasm MONDO:0000951 thymus lymphoma MONDO:0002586 NCIT:C6451 NCIT:C4962 thymus cancer MONDO:0000951 thymus lymphoma MONDO:0004021 NCIT:C6451 NCIT:C6633 mediastinal malignant lymphoma MONDO:0000955 ileum cancer MONDO:0000956 NCIT:C193425 NCIT:C7523 small intestine cancer MONDO:0000955 ileum cancer MONDO:0006801 NCIT:C193425 NCIT:C3130 ileal neoplasm MONDO:0000956 small intestine cancer MONDO:0004251 NCIT:C7523 NCIT:C4432 small intestine neoplasm MONDO:0000956 small intestine cancer MONDO:0005814 NCIT:C7523 NCIT:C4572 intestinal cancer MONDO:0000961 endobronchial lipoma MONDO:0005106 NCIT:C5063 NCIT:C3192 lipoma MONDO:0000961 endobronchial lipoma MONDO:0044335 NCIT:C5063 NCIT:C4242 benign soft tissue neoplasm MONDO:0000963 esophageal lipoma MONDO:0021459 NCIT:C5701 NCIT:C3598 benign neoplasm of esophagus MONDO:0000964 skin lipoma MONDO:0005106 NCIT:C4616 NCIT:C3192 lipoma MONDO:0000967 conventional lipoma MONDO:0005106 NCIT:C27530 NCIT:C3192 lipoma MONDO:0000968 kidney lipoma MONDO:0002513 NCIT:C5101 NCIT:C4778 kidney benign neoplasm MONDO:0000968 kidney lipoma MONDO:0005106 NCIT:C5101 NCIT:C3192 lipoma MONDO:0000969 pleural lipoma MONDO:0005106 NCIT:C6644 NCIT:C3192 lipoma MONDO:0000969 pleural lipoma MONDO:0021457 NCIT:C6644 NCIT:C3603 benign neoplasm of pleura MONDO:0000970 breast lipoma MONDO:0000620 NCIT:C4647 NCIT:C4505 breast benign neoplasm MONDO:0000970 breast lipoma MONDO:0005106 NCIT:C4647 NCIT:C3192 lipoma MONDO:0000971 chest wall lipoma MONDO:0005106 NCIT:C6719 NCIT:C3192 lipoma MONDO:0000971 chest wall lipoma MONDO:0021529 NCIT:C6719 NCIT:C8529 benign neoplasm of chest wall MONDO:0000974 axillary lipoma MONDO:0005106 NCIT:C35419 NCIT:C3192 lipoma MONDO:0000974 axillary lipoma MONDO:0036781 NCIT:C35419 NCIT:C35750 benign axillary neoplasm MONDO:0000975 lipoma of spermatic cord MONDO:0000976 NCIT:C3606 NCIT:C6384 paratesticular lipoma MONDO:0000976 paratesticular lipoma MONDO:0005106 NCIT:C6384 NCIT:C3192 lipoma MONDO:0000977 chondroid lipoma MONDO:0005106 NCIT:C6503 NCIT:C3192 lipoma MONDO:0000993 prostate squamous cell carcinoma MONDO:0005096 NCIT:C5536 NCIT:C2929 squamous cell carcinoma MONDO:0000994 malignant prostate phyllodes tumor MONDO:0008315 NCIT:C5531 NCIT:C7378 prostate cancer MONDO:0000994 malignant prostate phyllodes tumor MONDO:0021102 NCIT:C5531 NCIT:C7574 prostate phyllodes tumor MONDO:0000994 malignant prostate phyllodes tumor MONDO:0037003 NCIT:C5531 NCIT:C4275 malignant phyllodes tumor MONDO:0000996 prostate lymphoma MONDO:0008315 NCIT:C5533 NCIT:C7378 prostate cancer MONDO:0001014 chronic leukemia MONDO:0005059 NCIT:C3483 NCIT:C3161 leukemia MONDO:0001016 epididymis cancer MONDO:0003283 NCIT:C3558 NCIT:C39958 epididymal neoplasm MONDO:0001017 epididymal adenocarcinoma MONDO:0004970 NCIT:C39957 NCIT:C2852 adenocarcinoma MONDO:0001023 prolymphocytic leukemia MONDO:0001014 NCIT:C3181 NCIT:C3483 chronic leukemia MONDO:0001056 gastric cancer MONDO:0002516 NCIT:C9331 NCIT:C4890 digestive system cancer MONDO:0001056 gastric cancer MONDO:0021085 NCIT:C9331 NCIT:C3387 gastric neoplasm MONDO:0001057 malignant gastric granular cell tumor MONDO:0001056 NCIT:C5484 NCIT:C9331 gastric cancer MONDO:0001057 malignant gastric granular cell tumor MONDO:0003252 NCIT:C5484 NCIT:C4336 granular cell cancer MONDO:0001059 gastric lymphoma MONDO:0001056 NCIT:C4636 NCIT:C9331 gastric cancer MONDO:0001059 gastric lymphoma MONDO:0004699 NCIT:C4636 NCIT:C38162 gastrointestinal lymphoma MONDO:0001061 pylorus cancer MONDO:0001056 NCIT:C188051 NCIT:C9331 gastric cancer MONDO:0001082 lymph node cancer MONDO:0024339 NCIT:C35812 NCIT:C35497 lymph node neoplasm MONDO:0001091 lipoma of colon MONDO:0002278 NCIT:C5493 NCIT:C2894 benign colon neoplasm MONDO:0001091 lipoma of colon MONDO:0003885 NCIT:C5493 NCIT:C5678 colorectal lipoma MONDO:0001092 colon leiomyoma MONDO:0002278 NCIT:C5492 NCIT:C2894 benign colon neoplasm MONDO:0001092 colon leiomyoma MONDO:0003299 NCIT:C5492 NCIT:C5677 colorectal leiomyoma MONDO:0001093 colonic lymphangioma MONDO:0002278 NCIT:C5500 NCIT:C2894 benign colon neoplasm MONDO:0001095 mediastinum neuroblastoma MONDO:0003098 NCIT:C6628 NCIT:C6624 mediastinal neural neoplasm MONDO:0001095 mediastinum neuroblastoma MONDO:0005843 NCIT:C6628 NCIT:C3549 mediastinal cancer MONDO:0001096 mediastinum ganglioneuroblastoma MONDO:0003327 NCIT:C6627 NCIT:C6594 peripheral ganglioneuroblastoma MONDO:0001128 nasal cavity cancer MONDO:0004756 NCIT:C4918 NCIT:C4413 nasal cavity neoplasm MONDO:0001129 nasal cavity olfactory neuroblastoma MONDO:0001128 NCIT:C7604 NCIT:C4918 nasal cavity cancer MONDO:0001129 nasal cavity olfactory neuroblastoma MONDO:0006329 NCIT:C7604 NCIT:C3789 olfactory neuroblastoma MONDO:0001130 nasal cavity lymphoma MONDO:0001128 NCIT:C6074 NCIT:C4918 nasal cavity cancer MONDO:0001187 urinary bladder cancer MONDO:0004987 NCIT:C9334 NCIT:C2901 urinary bladder neoplasm MONDO:0001187 urinary bladder cancer MONDO:0006295 NCIT:C9334 NCIT:C192668 malignant urinary system neoplasm MONDO:0001188 esophagus lymphoma MONDO:0004699 NCIT:C5687 NCIT:C38162 gastrointestinal lymphoma MONDO:0001188 esophagus lymphoma MONDO:0007576 NCIT:C5687 NCIT:C7478 esophageal cancer MONDO:0001192 esophageal melanoma MONDO:0007576 NCIT:C5707 NCIT:C7478 esophageal cancer MONDO:0001192 esophageal melanoma MONDO:0045070 NCIT:C5707 NCIT:C7091 digestive system melanoma MONDO:0001204 esophagus sarcoma MONDO:0007576 NCIT:C5341 NCIT:C7478 esophageal cancer MONDO:0001209 common wart MONDO:0024666 NCIT:C27087 NCIT:C7341 benign epithelial skin neoplasm MONDO:0001235 appendix cancer MONDO:0001236 NCIT:C9333 NCIT:C4434 appendiceal neoplasm MONDO:0001237 appendix lymphoma MONDO:0001235 NCIT:C5513 NCIT:C9333 appendix cancer MONDO:0001275 spinal meningioma MONDO:0001279 NCIT:C6935 NCIT:C5134 intraspinal meningioma MONDO:0001275 spinal meningioma MONDO:0021234 NCIT:C6935 NCIT:C3381 spinal cord neoplasm MONDO:0001293 subglottis cancer MONDO:0000933 NCIT:C3546 NCIT:C4426 subglottis neoplasm MONDO:0001293 subglottis cancer MONDO:0002352 NCIT:C3546 NCIT:C7484 larynx cancer MONDO:0001309 oculomotor nerve paralysis MONDO:0002782 NCIT:C27597 NCIT:C26941 cranial nerve palsy MONDO:0001309 oculomotor nerve paralysis MONDO:0003546 NCIT:C27597 NCIT:C27598 third cranial nerve disorder MONDO:0001322 pericardium cancer MONDO:0021381 NCIT:C4567 NCIT:C4651 neoplasm of pericardium MONDO:0001325 penile cancer MONDO:0005836 NCIT:C7547 NCIT:C8561 male reproductive organ cancer MONDO:0001325 penile cancer MONDO:0006895 NCIT:C7547 NCIT:C3317 penile neoplasm MONDO:0001340 heart cancer MONDO:0002100 NCIT:C3548 NCIT:C114940 cardiovascular cancer MONDO:0001340 heart cancer MONDO:0003274 NCIT:C3548 NCIT:C3576 thoracic cancer MONDO:0001340 heart cancer MONDO:0021209 NCIT:C3548 NCIT:C3081 heart neoplasm MONDO:0001374 bladder sarcoma MONDO:0001187 NCIT:C4669 NCIT:C9334 urinary bladder cancer MONDO:0001374 bladder sarcoma MONDO:0018078 NCIT:C4669 NCIT:C9306 soft tissue sarcoma MONDO:0001381 bladder lymphoma MONDO:0001187 NCIT:C6164 NCIT:C9334 urinary bladder cancer MONDO:0001387 penile sarcoma MONDO:0001325 NCIT:C7730 NCIT:C7547 penile cancer MONDO:0001387 penile sarcoma MONDO:0018078 NCIT:C7730 NCIT:C9306 soft tissue sarcoma MONDO:0001398 ureter benign neoplasm MONDO:0004180 NCIT:C3617 NCIT:C192667 benign urinary system neoplasm MONDO:0001398 ureter benign neoplasm MONDO:0021111 NCIT:C3617 NCIT:C3427 ureter neoplasm MONDO:0001399 ureter leiomyoma MONDO:0001398 NCIT:C6161 NCIT:C3617 ureter benign neoplasm MONDO:0001399 ureter leiomyoma MONDO:0001572 NCIT:C6161 NCIT:C3157 leiomyoma MONDO:0001400 schwannoma of ureter MONDO:0001398 NCIT:C6162 NCIT:C3617 ureter benign neoplasm MONDO:0001400 schwannoma of ureter MONDO:0004820 NCIT:C6162 NCIT:C41430 peripheral nerve schwannoma MONDO:0001402 vaginal cancer MONDO:0001416 NCIT:C7410 NCIT:C4913 female reproductive organ cancer MONDO:0001402 vaginal cancer MONDO:0021050 NCIT:C7410 NCIT:C3437 vaginal neoplasm MONDO:0001403 labium majus cancer MONDO:0001528 NCIT:C7638 NCIT:C7502 vulva cancer MONDO:0001406 peripheral nervous system neoplasm MONDO:0003620 NCIT:C3321 NCIT:C27580 peripheral nervous system disorder MONDO:0001406 peripheral nervous system neoplasm MONDO:0021248 NCIT:C3321 NCIT:C3268 nervous system neoplasm MONDO:0001407 tracheal cancer MONDO:0000376 NCIT:C9346 NCIT:C4571 respiratory system cancer MONDO:0001407 tracheal cancer MONDO:0021210 NCIT:C9346 NCIT:C3419 trachea neoplasm MONDO:0001416 female reproductive organ cancer MONDO:0002149 NCIT:C4913 NCIT:C36076 reproductive system cancer MONDO:0001416 female reproductive organ cancer MONDO:0021148 NCIT:C4913 NCIT:C3053 female reproductive system neoplasm MONDO:0001417 tracheal lymphoma MONDO:0001407 NCIT:C6248 NCIT:C9346 tracheal cancer MONDO:0001418 trachea sarcoma MONDO:0001407 NCIT:C6050 NCIT:C9346 tracheal cancer MONDO:0001418 trachea sarcoma MONDO:0018078 NCIT:C6050 NCIT:C9306 soft tissue sarcoma MONDO:0001419 trachea squamous cell carcinoma MONDO:0003184 NCIT:C4448 NCIT:C9347 trachea carcinoma MONDO:0001419 trachea squamous cell carcinoma MONDO:0005096 NCIT:C4448 NCIT:C2929 squamous cell carcinoma MONDO:0001420 trigeminal nerve neoplasm MONDO:0002633 NCIT:C5122 NCIT:C2963 cranial nerve neoplasm MONDO:0001420 trigeminal nerve neoplasm MONDO:0003543 NCIT:C5122 NCIT:C26952 trigeminal nerve disorder MONDO:0001421 frontal lobe neoplasm MONDO:0021374 NCIT:C5572 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0001426 mediastinum neurofibroma MONDO:0003098 NCIT:C6631 NCIT:C6624 mediastinal neural neoplasm MONDO:0001426 mediastinum neurofibroma MONDO:0016755 NCIT:C6631 NCIT:C3272 neurofibroma MONDO:0001470 anal margin squamous cell carcinoma MONDO:0002529 NCIT:C6925 NCIT:C4819 skin squamous cell carcinoma MONDO:0001470 anal margin squamous cell carcinoma MONDO:0002941 NCIT:C6925 NCIT:C7472 anal margin carcinoma MONDO:0001470 anal margin squamous cell carcinoma MONDO:0006082 NCIT:C6925 NCIT:C9161 anal squamous cell carcinoma MONDO:0001472 testicular lymphoma MONDO:0005447 NCIT:C6810 NCIT:C7251 testicular cancer MONDO:0001482 testicular leukemia MONDO:0005059 NCIT:C9277 NCIT:C3161 leukemia MONDO:0001482 testicular leukemia MONDO:0005447 NCIT:C9277 NCIT:C7251 testicular cancer MONDO:0001499 retroperitoneal lymphoma MONDO:0005941 NCIT:C7353 NCIT:C3537 retroperitoneal cancer MONDO:0001501 retroperitoneal sarcoma MONDO:0005941 NCIT:C4832 NCIT:C3537 retroperitoneal cancer MONDO:0001501 retroperitoneal sarcoma MONDO:0018078 NCIT:C4832 NCIT:C9306 soft tissue sarcoma MONDO:0001502 retroperitoneum carcinoma MONDO:0004993 NCIT:C7352 NCIT:C2916 carcinoma MONDO:0001502 retroperitoneum carcinoma MONDO:0005941 NCIT:C7352 NCIT:C3537 retroperitoneal cancer MONDO:0001526 labia minora cancer MONDO:0001528 NCIT:C7637 NCIT:C7502 vulva cancer MONDO:0001528 vulva cancer MONDO:0001416 NCIT:C7502 NCIT:C4913 female reproductive organ cancer MONDO:0001528 vulva cancer MONDO:0021049 NCIT:C7502 NCIT:C3443 vulvar neoplasm MONDO:0001536 vaginal leiomyoma MONDO:0000647 NCIT:C6373 NCIT:C3610 benign vaginal neoplasm MONDO:0001536 vaginal leiomyoma MONDO:0001572 NCIT:C6373 NCIT:C3157 leiomyoma MONDO:0001569 acoustic neuroma MONDO:0002546 NCIT:C3276 NCIT:C3269 schwannoma MONDO:0001572 leiomyoma MONDO:0006106 NCIT:C3157 NCIT:C6510 benign smooth muscle neoplasm MONDO:0001602 labia minora carcinoma MONDO:0001526 NCIT:C9364 NCIT:C7637 labia minora cancer MONDO:0001602 labia minora carcinoma MONDO:0005215 NCIT:C9364 NCIT:C4866 vulvar carcinoma MONDO:0001606 central nervous system leukemia MONDO:0003641 NCIT:C5440 NCIT:C5503 central nervous system hematopoietic neoplasm MONDO:0001606 central nervous system leukemia MONDO:0005059 NCIT:C5440 NCIT:C3161 leukemia MONDO:0001608 vagus nerve neoplasm MONDO:0001535 NCIT:C5831 NCIT:C27591 vagus nerve disorder MONDO:0001634 bladder leiomyoma MONDO:0000384 NCIT:C6178 NCIT:C3618 bladder benign neoplasm MONDO:0001634 bladder leiomyoma MONDO:0001572 NCIT:C6178 NCIT:C3157 leiomyoma MONDO:0001635 bladder squamous papilloma MONDO:0000384 NCIT:C39834 NCIT:C3618 bladder benign neoplasm MONDO:0001651 scrotum squamous cell carcinoma MONDO:0002650 NCIT:C4643 NCIT:C6389 scrotal carcinoma MONDO:0001657 brain cancer MONDO:0021211 NCIT:C3568 NCIT:C2907 brain neoplasm MONDO:0001672 bronchus cancer MONDO:0000376 NCIT:C156885 NCIT:C4571 respiratory system cancer MONDO:0001680 vaginal mullerian papilloma MONDO:0000647 NCIT:C40255 NCIT:C3610 benign vaginal neoplasm MONDO:0001680 vaginal mullerian papilloma MONDO:0001704 NCIT:C40255 NCIT:C40250 vaginal glandular neoplasm MONDO:0001702 labia majora carcinoma MONDO:0001403 NCIT:C9363 NCIT:C7638 labium majus cancer MONDO:0001702 labia majora carcinoma MONDO:0005215 NCIT:C9363 NCIT:C4866 vulvar carcinoma MONDO:0001704 vaginal glandular neoplasm MONDO:0021050 NCIT:C40250 NCIT:C3437 vaginal neoplasm MONDO:0001704 vaginal glandular neoplasm MONDO:0024276 NCIT:C40250 NCIT:C7132 glandular cell neoplasm MONDO:0001724 supraglottis cancer MONDO:0002352 NCIT:C3545 NCIT:C7484 larynx cancer MONDO:0001724 supraglottis cancer MONDO:0004427 NCIT:C3545 NCIT:C6793 supraglottis neoplasm MONDO:0001731 benign vaginal mixed epithelial and mesenchymal neoplasm MONDO:0000647 NCIT:C40275 NCIT:C3610 benign vaginal neoplasm MONDO:0001740 cornea squamous cell carcinoma MONDO:0002466 NCIT:C4552 NCIT:C6079 eye carcinoma MONDO:0001740 cornea squamous cell carcinoma MONDO:0003802 NCIT:C4552 NCIT:C3565 cornea cancer MONDO:0001743 paranasal sinus lymphoma MONDO:0020669 NCIT:C6068 NCIT:C7487 paranasal sinus cancer MONDO:0001748 maxillary sinus carcinoma MONDO:0000380 NCIT:C9332 NCIT:C6014 paranasal sinus carcinoma MONDO:0001748 maxillary sinus carcinoma MONDO:0006850 NCIT:C3540 NCIT:C3219 maxillary sinus neoplasm MONDO:0001756 frontal sinus cancer MONDO:0001757 NCIT:C3542 NCIT:C4419 frontal sinus neoplasm MONDO:0001757 frontal sinus neoplasm MONDO:0005289 NCIT:C4419 NCIT:C7488 paranasal sinus neoplasm MONDO:0001763 ethmoid sinus cancer MONDO:0001764 NCIT:C3541 NCIT:C4416 ethmoidal sinus neoplasm MONDO:0001764 ethmoidal sinus neoplasm MONDO:0005289 NCIT:C4416 NCIT:C7488 paranasal sinus neoplasm MONDO:0001778 dermoid cyst of skin MONDO:0002378 NCIT:C4632 NCIT:C9011 dermoid cyst MONDO:0001779 vaginal squamous papilloma MONDO:0000647 NCIT:C6374 NCIT:C3610 benign vaginal neoplasm MONDO:0001779 vaginal squamous papilloma MONDO:0001806 NCIT:C6374 NCIT:C40242 vaginal squamous tumor MONDO:0001779 vaginal squamous papilloma MONDO:0001825 NCIT:C6374 NCIT:C3712 squamous papilloma MONDO:0001781 uterine corpus adenomatoid tumor MONDO:0004230 NCIT:C27250 NCIT:C3762 adenomatoid tumor MONDO:0001781 uterine corpus adenomatoid tumor MONDO:0021525 NCIT:C27250 NCIT:C3608 benign neoplasm of corpus uteri MONDO:0001783 endometrial stromal nodule MONDO:0021525 NCIT:C4262 NCIT:C3608 benign neoplasm of corpus uteri MONDO:0001783 endometrial stromal nodule MONDO:0044335 NCIT:C4262 NCIT:C4242 benign soft tissue neoplasm MONDO:0001789 neurofibroma of spinal cord MONDO:0016755 NCIT:C5145 NCIT:C3272 neurofibroma MONDO:0001790 spinal cord lipoma MONDO:0003844 NCIT:C4619 NCIT:C5451 central nervous system lipoma MONDO:0001790 spinal cord lipoma MONDO:0021506 NCIT:C4619 NCIT:C3627 benign neoplasm of spinal cord MONDO:0001795 plantar wart MONDO:0024666 NCIT:C26913 NCIT:C7341 benign epithelial skin neoplasm MONDO:0001806 vaginal squamous tumor MONDO:0002532 NCIT:C40242 NCIT:C3792 squamous cell neoplasm MONDO:0001806 vaginal squamous tumor MONDO:0021050 NCIT:C40242 NCIT:C3437 vaginal neoplasm MONDO:0001825 squamous papilloma MONDO:0002363 NCIT:C3712 NCIT:C7440 papilloma MONDO:0001841 uterine corpus epithelioid leiomyoma MONDO:0007886 NCIT:C40164 NCIT:C3434 uterine corpus leiomyoma MONDO:0001842 uterine corpus dissecting leiomyoma MONDO:0007886 NCIT:C40172 NCIT:C3434 uterine corpus leiomyoma MONDO:0001844 uterine corpus myxoid leiomyoma MONDO:0007886 NCIT:C40166 NCIT:C3434 uterine corpus leiomyoma MONDO:0001845 uterine corpus lipoleiomyoma MONDO:0007886 NCIT:C40168 NCIT:C3434 uterine corpus leiomyoma MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0003288 NCIT:C40167 NCIT:C4257 bizarre leiomyoma MONDO:0001846 uterine corpus bizarre leiomyoma MONDO:0007886 NCIT:C40167 NCIT:C3434 uterine corpus leiomyoma MONDO:0001852 small intestine lymphoma MONDO:0000956 NCIT:C4007 NCIT:C7523 small intestine cancer MONDO:0001852 small intestine lymphoma MONDO:0004699 NCIT:C4007 NCIT:C38162 gastrointestinal lymphoma MONDO:0001879 anus cancer MONDO:0003046 NCIT:C7379 NCIT:C2877 anus neoplasm MONDO:0001884 abducens nerve neoplasm MONDO:0002633 NCIT:C5826 NCIT:C2963 cranial nerve neoplasm MONDO:0001884 abducens nerve neoplasm MONDO:0020594 NCIT:C5826 NCIT:C27593 abducens nerve disorder MONDO:0001888 anus lymphoma MONDO:0001879 NCIT:C5601 NCIT:C7379 anus cancer MONDO:0001892 spinal cord lymphoma MONDO:0002571 NCIT:C5157 NCIT:C9301 primary central nervous system lymphoma MONDO:0001892 spinal cord lymphoma MONDO:0003544 NCIT:C5157 NCIT:C3572 spinal cord cancer MONDO:0001893 spinal cord melanoma MONDO:0003544 NCIT:C5158 NCIT:C3572 spinal cord cancer MONDO:0001894 spinal cord sarcoma MONDO:0002217 NCIT:C5152 NCIT:C5153 central nervous system sarcoma MONDO:0001894 spinal cord sarcoma MONDO:0003544 NCIT:C5152 NCIT:C3572 spinal cord cancer MONDO:0001939 skin epithelioid hemangioma MONDO:0003110 NCIT:C7393 NCIT:C4905 skin hemangioma MONDO:0001939 skin epithelioid hemangioma MONDO:0021169 NCIT:C7393 NCIT:C4298 epithelioid hemangioma MONDO:0001975 cavernous hemangioma of orbit MONDO:0003155 NCIT:C4546 NCIT:C3086 cavernous hemangioma MONDO:0001977 ureteral lymphoma MONDO:0008627 NCIT:C6175 NCIT:C7543 ureter cancer MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm MONDO:0003354 NCIT:C5367 NCIT:C7723 heart sarcoma MONDO:0001990 malignant cardiac peripheral nerve sheath neoplasm MONDO:0017827 NCIT:C5367 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0001991 malignant cardiac germ cell tumor MONDO:0001340 NCIT:C5371 NCIT:C3548 heart cancer MONDO:0001991 malignant cardiac germ cell tumor MONDO:0003113 NCIT:C5371 NCIT:C8881 extragonadal germ cell cancer MONDO:0001991 malignant cardiac germ cell tumor MONDO:0020589 NCIT:C5371 NCIT:C147005 cardiac germ cell tumor MONDO:0001992 rete testis adenocarcinoma MONDO:0003562 NCIT:C8955 NCIT:C39955 rete testis neoplasm MONDO:0001992 rete testis adenocarcinoma MONDO:0004970 NCIT:C8955 NCIT:C2852 adenocarcinoma MONDO:0001993 seminal vesicle adenocarcinoma MONDO:0004970 NCIT:C39906 NCIT:C2852 adenocarcinoma MONDO:0001994 sphenoidal sinus cancer MONDO:0004047 NCIT:C3543 NCIT:C6792 sphenoidal sinus neoplasm MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0001994 NCIT:C6066 NCIT:C3543 sphenoidal sinus cancer MONDO:0001995 sphenoid sinus squamous cell carcinoma MONDO:0044705 NCIT:C6066 NCIT:C8193 paranasal sinus squamous cell carcinoma MONDO:0002032 colon carcinoma MONDO:0021063 NCIT:C4910 NCIT:C9242 malignant colon neoplasm MONDO:0002032 colon carcinoma MONDO:0024331 NCIT:C4910 NCIT:C2955 colorectal carcinoma MONDO:0002033 cecum cancer MONDO:0005694 NCIT:C9329 NCIT:C4433 cecal neoplasm MONDO:0002033 cecum cancer MONDO:0021063 NCIT:C9329 NCIT:C9242 malignant colon neoplasm MONDO:0002034 cecum lymphoma MONDO:0002033 NCIT:C5515 NCIT:C9329 cecum cancer MONDO:0002034 cecum lymphoma MONDO:0002035 NCIT:C5515 NCIT:C4793 colon lymphoma MONDO:0002035 colon lymphoma MONDO:0021063 NCIT:C4793 NCIT:C9242 malignant colon neoplasm MONDO:0002035 colon lymphoma MONDO:0024656 NCIT:C4793 NCIT:C96498 colorectal lymphoma MONDO:0002038 head and neck carcinoma MONDO:0004993 NCIT:C35850 NCIT:C2916 carcinoma MONDO:0002038 head and neck carcinoma MONDO:0005627 NCIT:C35850 NCIT:C4013 head and neck cancer MONDO:0002055 benign eccrine breast spiradenoma MONDO:0000620 NCIT:C5193 NCIT:C4505 breast benign neoplasm MONDO:0002055 benign eccrine breast spiradenoma MONDO:0003448 NCIT:C5193 NCIT:C4170 benign spiradenoma MONDO:0002056 breast fibroadenoma MONDO:0021046 NCIT:C3744 NCIT:C40405 breast fibroepithelial neoplasm MONDO:0002057 breast leiomyoma MONDO:0000620 NCIT:C40399 NCIT:C4505 breast benign neoplasm MONDO:0002057 breast leiomyoma MONDO:0001572 NCIT:C40399 NCIT:C3157 leiomyoma MONDO:0002058 breast adenoma MONDO:0000620 NCIT:C40382 NCIT:C4505 breast benign neoplasm MONDO:0002058 breast adenoma MONDO:0004972 NCIT:C40382 NCIT:C2855 adenoma MONDO:0002058 breast adenoma MONDO:0036976 NCIT:C40382 NCIT:C4092 benign epithelial neoplasm MONDO:0002060 intraductal papilloma MONDO:0002363 NCIT:C3785 NCIT:C7440 papilloma MONDO:0002061 intraductal papillary breast neoplasm MONDO:0002488 NCIT:C36090 NCIT:C36083 intraductal breast neoplasm MONDO:0002062 breast myofibroblastoma MONDO:0000620 NCIT:C40397 NCIT:C4505 breast benign neoplasm MONDO:0002062 breast myofibroblastoma MONDO:0040675 NCIT:C40397 NCIT:C49012 myofibroblastoma MONDO:0002065 benign breast adenomyoepithelioma MONDO:0000620 NCIT:C5144 NCIT:C4505 breast benign neoplasm MONDO:0002065 benign breast adenomyoepithelioma MONDO:0002066 NCIT:C5144 NCIT:C6899 breast adenomyoepithelioma MONDO:0002066 breast adenomyoepithelioma MONDO:0002483 NCIT:C6899 NCIT:C40389 breast myoepithelial tumor MONDO:0002071 supratentorial cancer MONDO:0001657 NCIT:C4964 NCIT:C3568 brain cancer MONDO:0002073 malignant pineal area germ cell neoplasm MONDO:0003249 NCIT:C6767 NCIT:C3573 pineal gland cancer MONDO:0002082 endocrine gland neoplasm MONDO:0005151 NCIT:C3010 NCIT:C3009 endocrine system disorder MONDO:0002086 clear cell acanthoma MONDO:0002093 NCIT:C97041 NCIT:C7419 acanthoma MONDO:0002087 peritoneum cancer MONDO:0006901 NCIT:C3538 NCIT:C3322 peritoneal neoplasm MONDO:0002090 eccrine sweat gland neoplasm MONDO:0002381 NCIT:C6796 NCIT:C3398 sweat gland neoplasm MONDO:0002092 small intestine leiomyoma MONDO:0021501 NCIT:C7725 NCIT:C3600 benign neoplasm of small intestine MONDO:0002093 acanthoma MONDO:0024666 NCIT:C7419 NCIT:C7341 benign epithelial skin neoplasm MONDO:0002095 vascular cancer MONDO:0021080 NCIT:C8538 NCIT:C7387 blood vessel neoplasm MONDO:0002096 malignant conjunctival melanoma MONDO:0003454 NCIT:C4550 NCIT:C3564 conjunctival cancer MONDO:0002096 malignant conjunctival melanoma MONDO:0006325 NCIT:C4550 NCIT:C8562 ocular melanoma MONDO:0002100 cardiovascular cancer MONDO:0004992 NCIT:C114940 NCIT:C9305 cancer MONDO:0002100 cardiovascular cancer MONDO:0024757 NCIT:C114940 NCIT:C4784 cardiovascular neoplasm MONDO:0002101 facial nerve neoplasm MONDO:0002098 NCIT:C5827 NCIT:C27594 facial nerve disorder MONDO:0002101 facial nerve neoplasm MONDO:0002633 NCIT:C5827 NCIT:C2963 cranial nerve neoplasm MONDO:0002108 thyroid cancer MONDO:0015074 NCIT:C7510 NCIT:C3414 thyroid tumor MONDO:0002109 pituitary cancer MONDO:0017611 NCIT:C4769 NCIT:C3330 pituitary tumor MONDO:0002110 adrenal rest tumor MONDO:0000383 NCIT:C2860 NCIT:C7617 benign reproductive system neoplasm MONDO:0002112 benign peritoneal mesothelioma MONDO:0000650 NCIT:C7354 NCIT:C8612 peritoneal benign neoplasm MONDO:0002112 benign peritoneal mesothelioma MONDO:0006362 NCIT:C7354 NCIT:C7633 peritoneal mesothelioma MONDO:0002114 pancreas lymphoma MONDO:0004699 NCIT:C5714 NCIT:C38162 gastrointestinal lymphoma MONDO:0002114 pancreas lymphoma MONDO:0009831 NCIT:C5714 NCIT:C9005 malignant pancreatic neoplasm MONDO:0002116 malignant exocrine pancreas neoplasm MONDO:0009831 NCIT:C7430 NCIT:C9005 malignant pancreatic neoplasm MONDO:0002116 malignant exocrine pancreas neoplasm MONDO:0021076 NCIT:C7430 NCIT:C4445 pancreatic exocrine neoplasm MONDO:0002117 pancreas sarcoma MONDO:0009831 NCIT:C5715 NCIT:C9005 malignant pancreatic neoplasm MONDO:0002120 neuroendocrine carcinoma MONDO:0004993 NCIT:C3773 NCIT:C2916 carcinoma MONDO:0002120 neuroendocrine carcinoma MONDO:0019496 NCIT:C3773 NCIT:C3809 neuroendocrine neoplasm MONDO:0002120 neuroendocrine carcinoma MONDO:0021069 NCIT:C3773 NCIT:C3575 malignant endocrine neoplasm MONDO:0002129 bone cancer MONDO:0000637 NCIT:C4016 NCIT:C166357 musculoskeletal system cancer MONDO:0002129 bone cancer MONDO:0019060 NCIT:C4016 NCIT:C9343 bone neoplasm MONDO:0002132 skull cancer MONDO:0005627 NCIT:C155790 NCIT:C4013 head and neck cancer MONDO:0002132 skull cancer MONDO:0024653 NCIT:C155790 NCIT:C3375 skull neoplasm MONDO:0002140 vagina sarcoma MONDO:0001402 NCIT:C7737 NCIT:C7410 vaginal cancer MONDO:0002140 vagina sarcoma MONDO:0018078 NCIT:C7737 NCIT:C9306 soft tissue sarcoma MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma MONDO:0002142 NCIT:C5576 NCIT:C4247 undifferentiated pleomorphic sarcoma MONDO:0002141 cutaneous undifferentiated pleomorphic sarcoma MONDO:0006414 NCIT:C5576 NCIT:C5585 skin sarcoma MONDO:0002143 vaginal yolk sac tumor MONDO:0005744 NCIT:C6379 NCIT:C3011 yolk sac tumor MONDO:0002149 reproductive system cancer MONDO:0006054 NCIT:C36076 NCIT:C3674 reproductive system neoplasm MONDO:0002158 fallopian tube cancer MONDO:0001416 NCIT:C7480 NCIT:C4913 female reproductive organ cancer MONDO:0002158 fallopian tube cancer MONDO:0021092 NCIT:C7480 NCIT:C3032 fallopian tube neoplasm MONDO:0002159 fallopian tube leiomyosarcoma MONDO:0002158 NCIT:C40128 NCIT:C7480 fallopian tube cancer MONDO:0002159 fallopian tube leiomyosarcoma MONDO:0005058 NCIT:C40128 NCIT:C3158 leiomyosarcoma MONDO:0002162 fallopian tube adenosarcoma MONDO:0002158 NCIT:C40125 NCIT:C7480 fallopian tube cancer MONDO:0002162 fallopian tube adenosarcoma MONDO:0005636 NCIT:C40125 NCIT:C9474 adenosarcoma MONDO:0002165 rectal neoplasm MONDO:0005335 NCIT:C3350 NCIT:C2956 colorectal neoplasm MONDO:0002166 rectum lymphoma MONDO:0006519 NCIT:C5553 NCIT:C7418 rectal cancer MONDO:0002166 rectum lymphoma MONDO:0024656 NCIT:C5553 NCIT:C96498 colorectal lymphoma MONDO:0002167 rectum malignant melanoma MONDO:0006519 NCIT:C4640 NCIT:C7418 rectal cancer MONDO:0002167 rectum malignant melanoma MONDO:0045070 NCIT:C4640 NCIT:C7091 digestive system melanoma MONDO:0002168 rectum sarcoma MONDO:0006519 NCIT:C5548 NCIT:C7418 rectal cancer MONDO:0002169 rectum adenocarcinoma MONDO:0005008 NCIT:C9383 NCIT:C5105 colorectal adenocarcinoma MONDO:0002169 rectum adenocarcinoma MONDO:0044937 NCIT:C9383 NCIT:C9382 rectal carcinoma MONDO:0002178 placenta cancer MONDO:0021218 NCIT:C3555 NCIT:C4858 placenta neoplasm MONDO:0002188 vulvar nodular hidradenoma MONDO:0000643 NCIT:C40312 NCIT:C3611 vulvar benign neoplasm MONDO:0002188 vulvar nodular hidradenoma MONDO:0002189 NCIT:C40312 NCIT:C7568 nodular hidradenoma MONDO:0002189 nodular hidradenoma MONDO:0002805 NCIT:C7568 NCIT:C7563 hidradenoma MONDO:0002190 vulvar syringoma MONDO:0000643 NCIT:C40311 NCIT:C3611 vulvar benign neoplasm MONDO:0002190 vulvar syringoma MONDO:0002191 NCIT:C40311 NCIT:C3761 syringoma MONDO:0002194 vestibular papilloma MONDO:0000643 NCIT:C6376 NCIT:C3611 vulvar benign neoplasm MONDO:0002194 vestibular papilloma MONDO:0001825 NCIT:C6376 NCIT:C3712 squamous papilloma MONDO:0002194 vestibular papilloma MONDO:0002195 NCIT:C6376 NCIT:C40283 vulvar squamous neoplasm MONDO:0002195 vulvar squamous neoplasm MONDO:0002532 NCIT:C40283 NCIT:C3792 squamous cell neoplasm MONDO:0002195 vulvar squamous neoplasm MONDO:0021049 NCIT:C40283 NCIT:C3443 vulvar neoplasm MONDO:0002197 minor vestibular glands adenoma MONDO:0002198 NCIT:C40301 NCIT:C40292 vulvar glandular neoplasm MONDO:0002197 minor vestibular glands adenoma MONDO:0004972 NCIT:C40301 NCIT:C2855 adenoma MONDO:0002197 minor vestibular glands adenoma MONDO:0036976 NCIT:C40301 NCIT:C4092 benign epithelial neoplasm MONDO:0002198 vulvar glandular neoplasm MONDO:0021049 NCIT:C40292 NCIT:C3443 vulvar neoplasm MONDO:0002198 vulvar glandular neoplasm MONDO:0024276 NCIT:C40292 NCIT:C7132 glandular cell neoplasm MONDO:0002199 benign mixed tumor of the vulva MONDO:0000643 NCIT:C40302 NCIT:C3611 vulvar benign neoplasm MONDO:0002200 eccrine mixed tumor of skin MONDO:0021043 NCIT:C4474 NCIT:C6930 mixed neoplasm MONDO:0002201 vulvar trichoepithelioma MONDO:0000643 NCIT:C40314 NCIT:C3611 vulvar benign neoplasm MONDO:0002201 vulvar trichoepithelioma MONDO:0020593 NCIT:C40314 NCIT:C27132 trichoblastoma MONDO:0002205 vulvar melanoma MONDO:0001528 NCIT:C40329 NCIT:C7502 vulva cancer MONDO:0002206 sweat gland cancer MONDO:0002381 NCIT:C4810 NCIT:C3398 sweat gland neoplasm MONDO:0002207 vulval Paget disease MONDO:0008177 NCIT:C4027 NCIT:C3302 extramammary Paget disease MONDO:0002214 brain germinoma MONDO:0001657 NCIT:C6284 NCIT:C3568 brain cancer MONDO:0002216 brain sarcoma MONDO:0001657 NCIT:C5154 NCIT:C3568 brain cancer MONDO:0002216 brain sarcoma MONDO:0002217 NCIT:C5154 NCIT:C5153 central nervous system sarcoma MONDO:0002217 central nervous system sarcoma MONDO:0018078 NCIT:C5153 NCIT:C9306 soft tissue sarcoma MONDO:0002221 urethral urothelial papilloma MONDO:0004041 NCIT:C5061 NCIT:C3842 urothelial papilloma MONDO:0002221 urethral urothelial papilloma MONDO:0004177 NCIT:C5061 NCIT:C3619 benign urethral neoplasm MONDO:0002222 urethra leiomyoma MONDO:0001572 NCIT:C6171 NCIT:C3157 leiomyoma MONDO:0002222 urethra leiomyoma MONDO:0004177 NCIT:C6171 NCIT:C3619 benign urethral neoplasm MONDO:0002223 ovarian malignant mesothelioma MONDO:0006292 NCIT:C40444 NCIT:C4456 malignant mesothelioma MONDO:0002223 ovarian malignant mesothelioma MONDO:0008170 NCIT:C40444 NCIT:C7431 ovarian cancer MONDO:0002225 ovarian sarcoma MONDO:0008170 NCIT:C8267 NCIT:C7431 ovarian cancer MONDO:0002225 ovarian sarcoma MONDO:0018078 NCIT:C8267 NCIT:C9306 soft tissue sarcoma MONDO:0002227 ovarian lymphoma MONDO:0008170 NCIT:C40021 NCIT:C7431 ovarian cancer MONDO:0002229 ovarian epithelial tumor MONDO:0005626 NCIT:C4381 NCIT:C3709 epithelial neoplasm MONDO:0002229 ovarian epithelial tumor MONDO:0021068 NCIT:C4381 NCIT:C4984 ovarian neoplasm MONDO:0002230 ovarian Wilms tumor MONDO:0006058 NCIT:C40443 NCIT:C3267 Wilms tumor MONDO:0002230 ovarian Wilms tumor MONDO:0008170 NCIT:C40443 NCIT:C7431 ovarian cancer MONDO:0002235 eyelid neoplasm MONDO:0003382 NCIT:C3031 NCIT:C26768 eyelid disorder MONDO:0002235 eyelid neoplasm MONDO:0021220 NCIT:C3031 NCIT:C3030 eye neoplasm MONDO:0002236 ocular cancer MONDO:0021220 NCIT:C4767 NCIT:C3030 eye neoplasm MONDO:0002271 colon adenocarcinoma MONDO:0002032 NCIT:C4349 NCIT:C4910 colon carcinoma MONDO:0002271 colon adenocarcinoma MONDO:0005008 NCIT:C4349 NCIT:C5105 colorectal adenocarcinoma MONDO:0002278 benign colon neoplasm MONDO:0005401 NCIT:C2894 NCIT:C2953 colonic neoplasm MONDO:0002278 benign colon neoplasm MONDO:0021444 NCIT:C2894 NCIT:C4610 benign neoplasm of large intestine MONDO:0002290 clitoris cancer MONDO:0001528 NCIT:C3557 NCIT:C7502 vulva cancer MONDO:0002291 cutaneous granular cell tumor MONDO:0006235 NCIT:C5617 NCIT:C3474 granular cell tumor MONDO:0002293 cutaneous ganglioneuroma MONDO:0005033 NCIT:C4481 NCIT:C3049 ganglioneuroma MONDO:0002295 skin glomus tumor MONDO:0002300 NCIT:C4491 NCIT:C4475 dermis tumor MONDO:0002295 skin glomus tumor MONDO:0018327 NCIT:C4491 NCIT:C3060 glomus tumor MONDO:0002297 epidermal appendage tumor MONDO:0002531 NCIT:C4463 NCIT:C3372 skin neoplasm MONDO:0002298 cutaneous glomangioma MONDO:0002295 NCIT:C6750 NCIT:C4491 skin glomus tumor MONDO:0002298 cutaneous glomangioma MONDO:0002299 NCIT:C6750 NCIT:C4222 glomangioma MONDO:0002299 glomangioma MONDO:0018327 NCIT:C4222 NCIT:C3060 glomus tumor MONDO:0002300 dermis tumor MONDO:0002531 NCIT:C4475 NCIT:C3372 skin neoplasm MONDO:0002301 frontal sinus squamous cell carcinoma MONDO:0001756 NCIT:C6067 NCIT:C3542 frontal sinus cancer MONDO:0002301 frontal sinus squamous cell carcinoma MONDO:0044705 NCIT:C6067 NCIT:C8193 paranasal sinus squamous cell carcinoma MONDO:0002318 trachea leiomyoma MONDO:0001572 NCIT:C6049 NCIT:C3157 leiomyoma MONDO:0002318 trachea leiomyoma MONDO:0021517 NCIT:C6049 NCIT:C3602 benign neoplasm of trachea MONDO:0002323 cherry hemangioma MONDO:0002407 NCIT:C4390 NCIT:C7457 capillary hemangioma MONDO:0002323 cherry hemangioma MONDO:0003110 NCIT:C4390 NCIT:C4905 skin hemangioma MONDO:0002327 intracranial cavernous angioma MONDO:0002328 NCIT:C5432 NCIT:C3633 intracranial hemangioma MONDO:0002337 intra-abdominal hemangioma MONDO:0006500 NCIT:C3635 NCIT:C3085 hemangioma MONDO:0002343 splenic hemangioma MONDO:0002337 NCIT:C8541 NCIT:C3635 intra-abdominal hemangioma MONDO:0002343 splenic hemangioma MONDO:0021500 NCIT:C8541 NCIT:C4902 benign neoplasm of spleen MONDO:0002351 glottis cancer MONDO:0002352 NCIT:C3544 NCIT:C7484 larynx cancer MONDO:0002351 glottis cancer MONDO:0002353 NCIT:C3544 NCIT:C4425 glottis neoplasm MONDO:0002352 larynx cancer MONDO:0021071 NCIT:C7484 NCIT:C3156 laryngeal neoplasm MONDO:0002353 glottis neoplasm MONDO:0021071 NCIT:C4425 NCIT:C3156 laryngeal neoplasm MONDO:0002354 benign laryngeal neoplasm MONDO:0021071 NCIT:C3601 NCIT:C3156 laryngeal neoplasm MONDO:0002355 glottis carcinoma MONDO:0002351 NCIT:C4923 NCIT:C3544 glottis cancer MONDO:0002355 glottis carcinoma MONDO:0002358 NCIT:C4923 NCIT:C4855 laryngeal carcinoma MONDO:0002358 laryngeal carcinoma MONDO:0002352 NCIT:C4855 NCIT:C7484 larynx cancer MONDO:0002359 periosteal chondroma MONDO:0000631 NCIT:C4302 NCIT:C4880 bone benign neoplasm MONDO:0002359 periosteal chondroma MONDO:0002360 NCIT:C4302 NCIT:C53459 chondroma MONDO:0002360 chondroma MONDO:0024470 NCIT:C53459 NCIT:C8592 benign chondrogenic neoplasm MONDO:0002362 serous surface papilloma MONDO:0002363 NCIT:C4181 NCIT:C7440 papilloma MONDO:0002363 papilloma MONDO:0021096 NCIT:C7440 NCIT:C8429 papillary epithelial neoplasm MONDO:0002363 papilloma MONDO:0036976 NCIT:C7440 NCIT:C4092 benign epithelial neoplasm MONDO:0002365 kidney hemangiopericytoma MONDO:0005094 NCIT:C4527 NCIT:C3087 hemangiopericytoma MONDO:0002366 autonomic nervous system neoplasm MONDO:0001406 NCIT:C5112 NCIT:C3321 peripheral nervous system neoplasm MONDO:0002367 kidney cancer MONDO:0006295 NCIT:C7548 NCIT:C9297 malignant urinary system neoplasm MONDO:0002367 kidney cancer MONDO:0021163 NCIT:C7548 NCIT:C3150 kidney neoplasm MONDO:0002368 papillary serous cystadenocarcinoma MONDO:0005074 NCIT:C8377 NCIT:C3777 papillary cystadenocarcinoma MONDO:0002368 papillary serous cystadenocarcinoma MONDO:0024621 NCIT:C8377 NCIT:C3778 serous cystadenocarcinoma MONDO:0002369 cystadenoma MONDO:0021077 NCIT:C2972 NCIT:C6784 cystic neoplasm MONDO:0002369 cystadenoma MONDO:0024276 NCIT:C2972 NCIT:C7132 glandular cell neoplasm MONDO:0002370 ovarian Brenner tumor MONDO:0002229 NCIT:C3872 NCIT:C4381 ovarian epithelial tumor MONDO:0002370 ovarian Brenner tumor MONDO:0024235 NCIT:C3872 NCIT:C39954 Brenner tumor MONDO:0002371 breast pericanalicular fibroadenoma MONDO:0002056 NCIT:C4272 NCIT:C3744 breast fibroadenoma MONDO:0002372 ovarian monodermal and highly specialized teratoma MONDO:0003331 NCIT:C8113 NCIT:C7286 ovarian monodermal teratoma MONDO:0002377 breast intracanalicular fibroadenoma MONDO:0002056 NCIT:C4271 NCIT:C3744 breast fibroadenoma MONDO:0002378 dermoid cyst MONDO:0002379 NCIT:C9011 NCIT:C9014 cystic teratoma MONDO:0002379 cystic teratoma MONDO:0002601 NCIT:C9014 NCIT:C3403 teratoma MONDO:0002381 sweat gland neoplasm MONDO:0002297 NCIT:C3398 NCIT:C4463 epidermal appendage tumor MONDO:0002382 benign mesenchymoma MONDO:0006854 NCIT:C4267 NCIT:C3233 mesenchymoma MONDO:0002383 Pacinian tumor MONDO:0016755 NCIT:C4328 NCIT:C3272 neurofibroma MONDO:0002387 liver angiosarcoma MONDO:0002397 NCIT:C4438 NCIT:C4437 liver sarcoma MONDO:0002387 liver angiosarcoma MONDO:0002405 NCIT:C4438 NCIT:C35442 hepatic vascular disorder MONDO:0002395 renal adenoma MONDO:0002513 NCIT:C8383 NCIT:C4778 kidney benign neoplasm MONDO:0002395 renal adenoma MONDO:0004972 NCIT:C8383 NCIT:C2855 adenoma MONDO:0002396 nephrogenic adenofibroma MONDO:0021045 NCIT:C39812 NCIT:C3743 fibroepithelial neoplasm MONDO:0002397 liver sarcoma MONDO:0002691 NCIT:C4437 NCIT:C34803 liver cancer MONDO:0002398 mucinous adenofibroma MONDO:0006071 NCIT:C8978 NCIT:C8984 adenofibroma MONDO:0002398 mucinous adenofibroma MONDO:0024338 NCIT:C8978 NCIT:C7070 mucinous neoplasm MONDO:0002399 tenosynovial giant cell tumor, localized type MONDO:0002522 NCIT:C6532 NCIT:C3402 tenosynovial giant cell tumor MONDO:0002399 tenosynovial giant cell tumor, localized type MONDO:0024715 NCIT:C6532 NCIT:C3829 benign synovial neoplasm MONDO:0002401 malignant tenosynovial giant cell tumor MONDO:0002402 NCIT:C6535 NCIT:C4090 malignant giant cell tumor MONDO:0002401 malignant tenosynovial giant cell tumor MONDO:0002403 NCIT:C6535 NCIT:C6531 synovium cancer MONDO:0002401 malignant tenosynovial giant cell tumor MONDO:0002522 NCIT:C6535 NCIT:C3402 tenosynovial giant cell tumor MONDO:0002402 malignant giant cell tumor MONDO:0004992 NCIT:C4090 NCIT:C9305 cancer MONDO:0002403 synovium cancer MONDO:0002528 NCIT:C6531 NCIT:C8964 synovium neoplasm MONDO:0002404 liver hemangioma MONDO:0002337 NCIT:C3869 NCIT:C3635 intra-abdominal hemangioma MONDO:0002407 capillary hemangioma MONDO:0006500 NCIT:C7457 NCIT:C3085 hemangioma MONDO:0002414 gastric hemangioma MONDO:0002337 NCIT:C5481 NCIT:C3635 intra-abdominal hemangioma MONDO:0002416 ethmoid sinus squamous cell carcinoma MONDO:0001763 NCIT:C6065 NCIT:C3541 ethmoid sinus cancer MONDO:0002416 ethmoid sinus squamous cell carcinoma MONDO:0044705 NCIT:C6065 NCIT:C8193 paranasal sinus squamous cell carcinoma MONDO:0002418 ethmoid sinus adenocarcinoma MONDO:0001763 NCIT:C6237 NCIT:C3541 ethmoid sinus cancer MONDO:0002424 rectosigmoid carcinoma MONDO:0002425 NCIT:C7421 NCIT:C7420 rectosigmoid junction cancer MONDO:0002425 rectosigmoid junction cancer MONDO:0002423 NCIT:C7420 NCIT:C4877 rectosigmoid junction neoplasm MONDO:0002426 lung sarcoma MONDO:0008903 NCIT:C4860 NCIT:C7377 lung cancer MONDO:0002426 lung sarcoma MONDO:0018078 NCIT:C4860 NCIT:C9306 soft tissue sarcoma MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0002433 NCIT:C4539 NCIT:C3571 malignant cranial nerve neoplasm MONDO:0002432 malignant neoplasm of acoustic nerve MONDO:0021221 NCIT:C4539 NCIT:C5120 vestibulocochlear nerve neoplasm MONDO:0002433 malignant cranial nerve neoplasm MONDO:0002633 NCIT:C3571 NCIT:C2963 cranial nerve neoplasm MONDO:0002434 oculomotor nerve cancer MONDO:0002433 NCIT:C6995 NCIT:C3571 malignant cranial nerve neoplasm MONDO:0002434 oculomotor nerve cancer MONDO:0002435 NCIT:C6995 NCIT:C6994 oculomotor nerve neoplasm MONDO:0002435 oculomotor nerve neoplasm MONDO:0002633 NCIT:C6994 NCIT:C2963 cranial nerve neoplasm MONDO:0002435 oculomotor nerve neoplasm MONDO:0003546 NCIT:C6994 NCIT:C27598 third cranial nerve disorder MONDO:0002447 endometrial carcinoma MONDO:0011962 NCIT:C7558 NCIT:C27815 endometrial cancer MONDO:0002448 laryngeal sarcoma MONDO:0002352 NCIT:C6020 NCIT:C7484 larynx cancer MONDO:0002450 prostatic adenoma MONDO:0004972 NCIT:C4795 NCIT:C2855 adenoma MONDO:0002450 prostatic adenoma MONDO:0021510 NCIT:C4795 NCIT:C3613 benign neoplasm of prostate MONDO:0002450 prostatic adenoma MONDO:0036976 NCIT:C4795 NCIT:C4092 benign epithelial neoplasm MONDO:0002451 benign prostate phyllodes tumor MONDO:0021102 NCIT:C5532 NCIT:C7574 prostate phyllodes tumor MONDO:0002451 benign prostate phyllodes tumor MONDO:0021510 NCIT:C5532 NCIT:C3613 benign neoplasm of prostate MONDO:0002451 benign prostate phyllodes tumor MONDO:0037002 NCIT:C5532 NCIT:C4274 benign phyllodes tumor MONDO:0002452 prostate leiomyoma MONDO:0001572 NCIT:C5544 NCIT:C3157 leiomyoma MONDO:0002452 prostate leiomyoma MONDO:0021510 NCIT:C5544 NCIT:C3613 benign neoplasm of prostate MONDO:0002455 exocervical carcinoma MONDO:0005131 NCIT:C7453 NCIT:C9039 cervical carcinoma MONDO:0002460 lacrimal system cancer MONDO:0001854 NCIT:C5102 NCIT:C26809 lacrimal apparatus disorder MONDO:0002463 lacrimal gland carcinoma MONDO:0002464 NCIT:C6129 NCIT:C3563 lacrimal gland cancer MONDO:0002464 lacrimal gland cancer MONDO:0021222 NCIT:C3563 NCIT:C4360 lacrimal gland neoplasm MONDO:0002466 eye carcinoma MONDO:0002236 NCIT:C6079 NCIT:C4767 ocular cancer MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma MONDO:0002463 NCIT:C6804 NCIT:C6129 lacrimal gland carcinoma MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma MONDO:0002472 NCIT:C6804 NCIT:C4397 carcinoma ex pleomorphic adenoma MONDO:0002472 carcinoma ex pleomorphic adenoma MONDO:0005853 NCIT:C4397 NCIT:C3729 malignant mixed neoplasm MONDO:0002475 lacrimal gland adenocarcinoma MONDO:0002463 NCIT:C4541 NCIT:C6129 lacrimal gland carcinoma MONDO:0002475 lacrimal gland adenocarcinoma MONDO:0004970 NCIT:C4541 NCIT:C2852 adenocarcinoma MONDO:0002477 prostate neuroendocrine neoplasm MONDO:0019496 NCIT:C5545 NCIT:C3809 neuroendocrine neoplasm MONDO:0002477 prostate neuroendocrine neoplasm MONDO:0021259 NCIT:C5545 NCIT:C3343 prostate neoplasm MONDO:0002478 mixed germ cell-sex cord-stromal tumor MONDO:0021043 NCIT:C5241 NCIT:C6930 mixed neoplasm MONDO:0002480 endometrioid tumor MONDO:0005626 NCIT:C7113 NCIT:C3709 epithelial neoplasm MONDO:0002481 ovarian neuroendocrine neoplasm MONDO:0019496 NCIT:C5237 NCIT:C3809 neuroendocrine neoplasm MONDO:0002482 nipple neoplasm MONDO:0021100 NCIT:C5212 NCIT:C2910 breast neoplasm MONDO:0002483 breast myoepithelial tumor MONDO:0002380 NCIT:C40389 NCIT:C40392 myoepithelial tumor MONDO:0002485 breast neuroendocrine neoplasm MONDO:0019496 NCIT:C5169 NCIT:C3809 neuroendocrine neoplasm MONDO:0002485 breast neuroendocrine neoplasm MONDO:0021100 NCIT:C5169 NCIT:C2910 breast neoplasm MONDO:0002487 breast granular cell tumor MONDO:0006235 NCIT:C40400 NCIT:C3474 granular cell tumor MONDO:0002488 intraductal breast neoplasm MONDO:0021100 NCIT:C36083 NCIT:C2910 breast neoplasm MONDO:0002489 malignant breast phyllodes tumor MONDO:0007254 NCIT:C4504 NCIT:C9335 breast cancer MONDO:0002489 malignant breast phyllodes tumor MONDO:0021047 NCIT:C4504 NCIT:C7575 breast phyllodes tumor MONDO:0002489 malignant breast phyllodes tumor MONDO:0037003 NCIT:C4504 NCIT:C4275 malignant phyllodes tumor MONDO:0002490 breast sarcoma MONDO:0007254 NCIT:C4670 NCIT:C9335 breast cancer MONDO:0002490 breast sarcoma MONDO:0018078 NCIT:C4670 NCIT:C9306 soft tissue sarcoma MONDO:0002493 prostatic acinar adenocarcinoma MONDO:0004965 NCIT:C5596 NCIT:C3768 acinar cell carcinoma MONDO:0002493 prostatic acinar adenocarcinoma MONDO:0005082 NCIT:C5596 NCIT:C2919 prostate adenocarcinoma MONDO:0002495 colon signet ring cell adenocarcinoma MONDO:0002271 NCIT:C7967 NCIT:C4349 colon adenocarcinoma MONDO:0002495 colon signet ring cell adenocarcinoma MONDO:0044336 NCIT:C7967 NCIT:C43586 colorectal signet ring cell carcinoma MONDO:0002496 submucosal invasive colon adenocarcinoma MONDO:0002271 NCIT:C38760 NCIT:C4349 colon adenocarcinoma MONDO:0002496 submucosal invasive colon adenocarcinoma MONDO:0040677 NCIT:C38760 NCIT:C9480 invasive carcinoma MONDO:0002501 brain glioblastoma MONDO:0005499 NCIT:C4642 NCIT:C162993 brain glioma MONDO:0002501 brain glioblastoma MONDO:0018177 NCIT:C4642 NCIT:C3058 glioblastoma MONDO:0002503 adult astrocytic tumor MONDO:0021636 NCIT:C7049 NCIT:C6958 astrocytic tumor MONDO:0002505 childhood astrocytic tumor MONDO:0021636 NCIT:C9022 NCIT:C6958 astrocytic tumor MONDO:0002512 papillary adenocarcinoma MONDO:0004970 NCIT:C2853 NCIT:C2852 adenocarcinoma MONDO:0002512 papillary adenocarcinoma MONDO:0006509 NCIT:C2853 NCIT:C2927 papillary carcinoma MONDO:0002513 kidney benign neoplasm MONDO:0004180 NCIT:C4778 NCIT:C4893 benign urinary system neoplasm MONDO:0002513 kidney benign neoplasm MONDO:0021163 NCIT:C4778 NCIT:C3150 kidney neoplasm MONDO:0002514 hepatobiliary neoplasm MONDO:0002515 NCIT:C8614 NCIT:C3959 hepatobiliary disorder MONDO:0002514 hepatobiliary neoplasm MONDO:0021223 NCIT:C8614 NCIT:C3052 digestive system neoplasm MONDO:0002516 digestive system cancer MONDO:0004992 NCIT:C4890 NCIT:C9305 cancer MONDO:0002516 digestive system cancer MONDO:0021223 NCIT:C4890 NCIT:C3052 digestive system neoplasm MONDO:0002518 gallbladder papillary neoplasm MONDO:0021096 NCIT:C7130 NCIT:C8429 papillary epithelial neoplasm MONDO:0002518 gallbladder papillary neoplasm MONDO:0021253 NCIT:C7130 NCIT:C3048 gallbladder neoplasm MONDO:0002522 tenosynovial giant cell tumor MONDO:0002171 NCIT:C3402 NCIT:C3055 giant cell tumor MONDO:0002522 tenosynovial giant cell tumor MONDO:0002528 NCIT:C3402 NCIT:C8964 synovium neoplasm MONDO:0002528 synovium neoplasm MONDO:0006424 NCIT:C8964 NCIT:C3377 soft tissue neoplasm MONDO:0002529 skin squamous cell carcinoma MONDO:0002656 NCIT:C4819 NCIT:C4914 skin carcinoma MONDO:0002529 skin squamous cell carcinoma MONDO:0005096 NCIT:C4819 NCIT:C2929 squamous cell carcinoma MONDO:0002531 skin neoplasm MONDO:0005093 NCIT:C3372 NCIT:C3371 skin disorder MONDO:0002532 squamous cell neoplasm MONDO:0005626 NCIT:C3792 NCIT:C3709 epithelial neoplasm MONDO:0002533 papillary adenoma MONDO:0004972 NCIT:C79951 NCIT:C2855 adenoma MONDO:0002533 papillary adenoma MONDO:0021096 NCIT:C79951 NCIT:C8429 papillary epithelial neoplasm MONDO:0002534 fallopian tube papilloma MONDO:0000645 NCIT:C40112 NCIT:C4517 fallopian tube benign neoplasm MONDO:0002534 fallopian tube papilloma MONDO:0002363 NCIT:C40112 NCIT:C7440 papilloma MONDO:0002536 skin papilloma MONDO:0002363 NCIT:C4614 NCIT:C7440 papilloma MONDO:0002536 skin papilloma MONDO:0024666 NCIT:C4614 NCIT:C7341 benign epithelial skin neoplasm MONDO:0002537 inverted papilloma MONDO:0002363 NCIT:C3793 NCIT:C7440 papilloma MONDO:0002540 childhood oligodendroglioma MONDO:0016695 NCIT:C4045 NCIT:C3288 oligodendroglioma MONDO:0002541 spinal cord oligodendroglioma MONDO:0002542 NCIT:C4535 NCIT:C4534 spinal cord glioma MONDO:0002541 spinal cord oligodendroglioma MONDO:0016695 NCIT:C4535 NCIT:C3288 oligodendroglioma MONDO:0002543 adult oligodendroglioma MONDO:0016695 NCIT:C4014 NCIT:C3288 oligodendroglioma MONDO:0002544 brain oligodendroglioma MONDO:0016695 NCIT:C9377 NCIT:C3288 oligodendroglioma MONDO:0002546 schwannoma MONDO:0002547 NCIT:C3269 NCIT:C4972 nerve sheath neoplasm MONDO:0002548 cellular schwannoma MONDO:0002546 NCIT:C4724 NCIT:C3269 schwannoma MONDO:0002549 schwannoma of twelfth cranial nerve MONDO:0002546 NCIT:C5434 NCIT:C3269 schwannoma MONDO:0002549 schwannoma of twelfth cranial nerve MONDO:0002550 NCIT:C5434 NCIT:C5830 hypoglossal nerve neoplasm MONDO:0002550 hypoglossal nerve neoplasm MONDO:0001810 NCIT:C5830 NCIT:C26954 hypoglossal nerve disorder MONDO:0002550 hypoglossal nerve neoplasm MONDO:0002633 NCIT:C5830 NCIT:C2963 cranial nerve neoplasm MONDO:0002551 c-P angle neurinoma MONDO:0002553 NCIT:C5413 NCIT:C5414 cerebellopontine angle tumor MONDO:0002555 trigeminal schwannoma MONDO:0001420 NCIT:C4655 NCIT:C5122 trigeminal nerve neoplasm MONDO:0002555 trigeminal schwannoma MONDO:0002546 NCIT:C4655 NCIT:C3269 schwannoma MONDO:0002556 microcystic/reticular schwannoma MONDO:0002546 NCIT:C5321 NCIT:C3269 schwannoma MONDO:0002559 plexiform schwannoma MONDO:0002546 NCIT:C6969 NCIT:C3269 schwannoma MONDO:0002563 jejunal somatostatinoma MONDO:0015064 NCIT:C5787 NCIT:C135090 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0002564 jejunal neoplasm MONDO:0004251 NCIT:C8401 NCIT:C4432 small intestine neoplasm MONDO:0002571 primary central nervous system lymphoma MONDO:0002714 NCIT:C9301 NCIT:C4627 central nervous system cancer MONDO:0002571 primary central nervous system lymphoma MONDO:0003641 NCIT:C9301 NCIT:C5503 central nervous system hematopoietic neoplasm MONDO:0002571 primary central nervous system lymphoma MONDO:0017207 NCIT:C9301 NCIT:C7185 primary organ-specific lymphoma MONDO:0002574 prostate embryonal rhabdomyosarcoma MONDO:0006389 NCIT:C5525 NCIT:C5522 prostate rhabdomyosarcoma MONDO:0002574 prostate embryonal rhabdomyosarcoma MONDO:0009993 NCIT:C5525 NCIT:C8971 embryonal rhabdomyosarcoma MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma MONDO:0002577 NCIT:C5847 NCIT:C5860 extrahepatic bile duct rhabdomyosarcoma MONDO:0002576 embryonal extrahepatic bile duct rhabdomyosarcoma MONDO:0009993 NCIT:C5847 NCIT:C8971 embryonal rhabdomyosarcoma MONDO:0002577 extrahepatic bile duct rhabdomyosarcoma MONDO:0024658 NCIT:C5860 NCIT:C5029 extrahepatic bile duct sarcoma MONDO:0002578 botryoid rhabdomyosarcoma MONDO:0009993 NCIT:C9150 NCIT:C8971 embryonal rhabdomyosarcoma MONDO:0002579 orbit embryonal rhabdomyosarcoma MONDO:0002580 NCIT:C6246 NCIT:C4543 orbit rhabdomyosarcoma MONDO:0002579 orbit embryonal rhabdomyosarcoma MONDO:0009993 NCIT:C6246 NCIT:C8971 embryonal rhabdomyosarcoma MONDO:0002580 orbit rhabdomyosarcoma MONDO:0004943 NCIT:C4543 NCIT:C6095 orbit sarcoma MONDO:0002583 mucinous ovarian cystadenoma MONDO:0005183 NCIT:C4512 NCIT:C4060 ovarian cystadenoma MONDO:0002583 mucinous ovarian cystadenoma MONDO:0006859 NCIT:C4512 NCIT:C2973 mucinous cystadenoma MONDO:0002586 thymus cancer MONDO:0005197 NCIT:C4962 NCIT:C3412 thymus neoplasm MONDO:0002587 encapsulated thymoma MONDO:0006456 NCIT:C7386 NCIT:C3411 thymoma MONDO:0002588 thymoma type A MONDO:0006456 NCIT:C6454 NCIT:C3411 thymoma MONDO:0002592 invasive malignant thymoma MONDO:0006451 NCIT:C7904 NCIT:C7612 thymic carcinoma MONDO:0002597 notochordal tumor MONDO:0005564 NCIT:C7063 NCIT:C3264 embryonal neoplasm MONDO:0002597 notochordal tumor MONDO:0019060 NCIT:C7063 NCIT:C9343 bone neoplasm MONDO:0002599 teratocarcinoma MONDO:0015864 NCIT:C3756 NCIT:C4290 mixed germ cell tumor MONDO:0002601 teratoma MONDO:0021656 NCIT:C3403 NCIT:C121619 nongerminomatous germ cell tumor MONDO:0002603 angiomyolipoma MONDO:0006359 NCIT:C3734 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0002604 pericytic neoplasm MONDO:0002616 NCIT:C6528 NCIT:C7059 mesenchymal cell neoplasm MONDO:0002605 hepatic angiomyolipoma MONDO:0002603 NCIT:C27485 NCIT:C3734 angiomyolipoma MONDO:0002606 epithelioid type angiomyolipoma MONDO:0002603 NCIT:C38151 NCIT:C3734 angiomyolipoma MONDO:0002617 bone angiosarcoma MONDO:0016982 NCIT:C6479 NCIT:C3088 angiosarcoma MONDO:0002617 bone angiosarcoma MONDO:0021054 NCIT:C6479 NCIT:C9312 bone sarcoma MONDO:0002617 bone angiosarcoma MONDO:0024499 NCIT:C6479 NCIT:C6478 vascular bone neoplasm MONDO:0002618 undifferentiated high grade pleomorphic sarcoma of bone MONDO:0021054 NCIT:C8563 NCIT:C9312 bone sarcoma MONDO:0002619 bone fibrosarcoma MONDO:0005164 NCIT:C6604 NCIT:C3043 fibrosarcoma MONDO:0002619 bone fibrosarcoma MONDO:0021054 NCIT:C6604 NCIT:C9312 bone sarcoma MONDO:0002620 localized osteosarcoma MONDO:0009807 NCIT:C7780 NCIT:C9145 osteosarcoma MONDO:0002621 extraosseous osteosarcoma MONDO:0009807 NCIT:C8810 NCIT:C9145 osteosarcoma MONDO:0002621 extraosseous osteosarcoma MONDO:0018078 NCIT:C8810 NCIT:C9306 soft tissue sarcoma MONDO:0002623 pediatric osteosarcoma MONDO:0009807 NCIT:C6585 NCIT:C9145 osteosarcoma MONDO:0002624 bone leiomyosarcoma MONDO:0005058 NCIT:C7154 NCIT:C3158 leiomyosarcoma MONDO:0002624 bone leiomyosarcoma MONDO:0021054 NCIT:C7154 NCIT:C9312 bone sarcoma MONDO:0002625 Ewing sarcoma of bone MONDO:0012817 NCIT:C4835 NCIT:C4817 Ewing sarcoma MONDO:0002625 Ewing sarcoma of bone MONDO:0021054 NCIT:C4835 NCIT:C9312 bone sarcoma MONDO:0002625 Ewing sarcoma of bone MONDO:0021123 NCIT:C4835 NCIT:C35871 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0002626 spinal accessory nerve neoplasm MONDO:0002633 NCIT:C5829 NCIT:C2963 cranial nerve neoplasm MONDO:0002626 spinal accessory nerve neoplasm MONDO:0002636 NCIT:C5829 NCIT:C26953 accessory nerve disorder MONDO:0002627 chondroblastic osteosarcoma MONDO:0002631 NCIT:C4021 NCIT:C35870 conventional osteosarcoma MONDO:0002629 bone osteosarcoma MONDO:0009807 NCIT:C53707 NCIT:C9145 osteosarcoma MONDO:0002629 bone osteosarcoma MONDO:0021054 NCIT:C53707 NCIT:C9312 bone sarcoma MONDO:0002630 small cell osteogenic sarcoma MONDO:0006974 NCIT:C4023 NCIT:C3746 small cell sarcoma MONDO:0002632 metachronous osteosarcoma of the bone MONDO:0002629 NCIT:C38157 NCIT:C53707 bone osteosarcoma MONDO:0002633 cranial nerve neoplasm MONDO:0003569 NCIT:C2963 NCIT:C26733 cranial nerve neuropathy MONDO:0002634 liposarcoma of bone MONDO:0005060 NCIT:C7598 NCIT:C3194 liposarcoma MONDO:0002634 liposarcoma of bone MONDO:0021054 NCIT:C7598 NCIT:C9312 bone sarcoma MONDO:0002638 glossopharyngeal nerve neoplasm MONDO:0002633 NCIT:C5828 NCIT:C2963 cranial nerve neoplasm MONDO:0002638 glossopharyngeal nerve neoplasm MONDO:0002639 NCIT:C5828 NCIT:C27211 glossopharyngeal nerve disorder MONDO:0002640 optic nerve neoplasm MONDO:0002135 NCIT:C4801 NCIT:C79698 optic nerve disorder MONDO:0002640 optic nerve neoplasm MONDO:0002633 NCIT:C4801 NCIT:C2963 cranial nerve neoplasm MONDO:0002642 trochlear nerve neoplasm MONDO:0002633 NCIT:C5825 NCIT:C2963 cranial nerve neoplasm MONDO:0002642 trochlear nerve neoplasm MONDO:0007002 NCIT:C5825 NCIT:C78395 trochlear nerve disorder MONDO:0002648 mammary Paget disease MONDO:0004988 NCIT:C47857 NCIT:C5214 breast adenocarcinoma MONDO:0002648 mammary Paget disease MONDO:0021165 NCIT:C47857 NCIT:C7073 Paget disease MONDO:0002649 scrotum Paget disease MONDO:0002650 NCIT:C7728 NCIT:C6389 scrotal carcinoma MONDO:0002650 scrotal carcinoma MONDO:0021112 NCIT:C6389 NCIT:C3560 scrotum cancer MONDO:0002651 anal Paget disease MONDO:0002652 NCIT:C5598 NCIT:C5600 anus adenocarcinoma MONDO:0002651 anal Paget disease MONDO:0008177 NCIT:C5598 NCIT:C3302 extramammary Paget disease MONDO:0002652 anus adenocarcinoma MONDO:0003199 NCIT:C5600 NCIT:C9291 anal carcinoma MONDO:0002653 Paget disease of the penis MONDO:0006360 NCIT:C27817 NCIT:C9061 penile carcinoma MONDO:0002653 Paget disease of the penis MONDO:0008177 NCIT:C27817 NCIT:C3302 extramammary Paget disease MONDO:0002656 skin carcinoma MONDO:0002898 NCIT:C4914 NCIT:C2920 skin cancer MONDO:0002656 skin carcinoma MONDO:0004993 NCIT:C4914 NCIT:C2916 carcinoma MONDO:0002656 skin carcinoma MONDO:0021634 NCIT:C4914 NCIT:C7342 epithelial skin neoplasm MONDO:0002658 iris cancer MONDO:0002659 NCIT:C4554 NCIT:C6105 uveal cancer MONDO:0002658 iris cancer MONDO:0021224 NCIT:C4554 NCIT:C3142 iris neoplasm MONDO:0002659 uveal cancer MONDO:0002236 NCIT:C6105 NCIT:C4767 ocular cancer MONDO:0002659 uveal cancer MONDO:0021225 NCIT:C6105 NCIT:C3436 uvea neoplasm MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma MONDO:0002665 NCIT:C5776 NCIT:C7975 extrahepatic bile duct adenocarcinoma MONDO:0002664 extrahepatic bile duct signet ring cell carcinoma MONDO:0005092 NCIT:C5776 NCIT:C3774 signet ring cell carcinoma MONDO:0002665 extrahepatic bile duct adenocarcinoma MONDO:0003090 NCIT:C7975 NCIT:C3860 extrahepatic bile duct carcinoma MONDO:0002665 extrahepatic bile duct adenocarcinoma MONDO:0003193 NCIT:C7975 NCIT:C27813 bile duct adenocarcinoma MONDO:0002666 pancreatic signet ring cell adenocarcinoma MONDO:0005092 NCIT:C5720 NCIT:C3774 signet ring cell carcinoma MONDO:0002667 gallbladder signet ring cell adenocarcinoma MONDO:0005092 NCIT:C5745 NCIT:C3774 signet ring cell carcinoma MONDO:0002667 gallbladder signet ring cell adenocarcinoma MONDO:0006215 NCIT:C5745 NCIT:C9166 gallbladder adenocarcinoma MONDO:0002669 ampullary signet ring cell adenocarcinoma MONDO:0002670 NCIT:C6656 NCIT:C6650 ampulla of vater adenocarcinoma MONDO:0002670 ampulla of vater adenocarcinoma MONDO:0017590 NCIT:C6650 NCIT:C3908 carcinoma of the ampulla of vater MONDO:0002671 signet ring cell breast carcinoma MONDO:0004988 NCIT:C5175 NCIT:C5214 breast adenocarcinoma MONDO:0002671 signet ring cell breast carcinoma MONDO:0005092 NCIT:C5175 NCIT:C3774 signet ring cell carcinoma MONDO:0002671 signet ring cell breast carcinoma MONDO:0006256 NCIT:C5175 NCIT:C9245 invasive breast carcinoma MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant MONDO:0002493 NCIT:C5535 NCIT:C5596 prostatic acinar adenocarcinoma MONDO:0002672 acinar prostate adenocarcinoma, signet ring variant MONDO:0005092 NCIT:C5535 NCIT:C3774 signet ring cell carcinoma MONDO:0002677 conventional fibrosarcoma MONDO:0005164 NCIT:C9429 NCIT:C3043 fibrosarcoma MONDO:0002678 pediatric fibrosarcoma MONDO:0005164 NCIT:C8088 NCIT:C3043 fibrosarcoma MONDO:0002681 choroid plexus cancer MONDO:0016717 NCIT:C4533 NCIT:C3473 choroid plexus neoplasm MONDO:0002683 adult choroid plexus neoplasm MONDO:0016717 NCIT:C8568 NCIT:C3473 choroid plexus neoplasm MONDO:0002684 atypical choroid plexus papilloma MONDO:0016717 NCIT:C53686 NCIT:C3473 choroid plexus neoplasm MONDO:0002685 childhood choroid plexus carcinoma MONDO:0002071 NCIT:C124292 NCIT:C4964 supratentorial cancer MONDO:0002685 childhood choroid plexus carcinoma MONDO:0016718 NCIT:C124292 NCIT:C4715 choroid plexus carcinoma MONDO:0002685 childhood choroid plexus carcinoma MONDO:0024744 NCIT:C124292 NCIT:C42080 childhood choroid plexus neoplasm MONDO:0002696 Sertoli cell tumor MONDO:0006055 NCIT:C39976 NCIT:C3794 sex cord-stromal tumor MONDO:0002697 ovarian gonadoblastoma MONDO:0010768 NCIT:C39985 NCIT:C3754 gonadoblastoma MONDO:0002698 testicular gonadoblastoma MONDO:0010768 NCIT:C39911 NCIT:C3754 gonadoblastoma MONDO:0002701 ovarian mucinous cystadenocarcinoma MONDO:0002702 NCIT:C4026 NCIT:C5228 ovarian cystadenocarcinoma MONDO:0002701 ovarian mucinous cystadenocarcinoma MONDO:0005601 NCIT:C4026 NCIT:C5243 ovarian mucinous adenocarcinoma MONDO:0002701 ovarian mucinous cystadenocarcinoma MONDO:0005858 NCIT:C4026 NCIT:C3776 mucinous cystadenocarcinoma MONDO:0002702 ovarian cystadenocarcinoma MONDO:0002752 NCIT:C5228 NCIT:C7700 ovarian adenocarcinoma MONDO:0002702 ovarian cystadenocarcinoma MONDO:0005596 NCIT:C5228 NCIT:C2971 cystadenocarcinoma MONDO:0002703 appendix mucinous cystadenocarcinoma MONDO:0005858 NCIT:C5511 NCIT:C3776 mucinous cystadenocarcinoma MONDO:0002703 appendix mucinous cystadenocarcinoma MONDO:0018330 NCIT:C5511 NCIT:C43558 mucinous adenocarcinoma of the appendix MONDO:0002705 breast mucinous cystadenocarcinoma MONDO:0004988 NCIT:C40354 NCIT:C5214 breast adenocarcinoma MONDO:0002705 breast mucinous cystadenocarcinoma MONDO:0005858 NCIT:C40354 NCIT:C3776 mucinous cystadenocarcinoma MONDO:0002707 breast mucinous carcinoma MONDO:0004957 NCIT:C9131 NCIT:C26712 mucinous adenocarcinoma MONDO:0002710 infiltrating angiolipoma MONDO:0006085 NCIT:C7449 NCIT:C3733 angiolipoma MONDO:0002712 epidural spinal canal angiolipoma MONDO:0002713 NCIT:C5424 NCIT:C3019 epidural spinal canal neoplasm MONDO:0002714 central nervous system cancer MONDO:0005872 NCIT:C4627 NCIT:C4788 nervous system cancer MONDO:0002714 central nervous system cancer MONDO:0006130 NCIT:C4627 NCIT:C9293 central nervous system neoplasm MONDO:0002715 uterine cancer MONDO:0001416 NCIT:C3552 NCIT:C4913 female reproductive organ cancer MONDO:0002715 uterine cancer MONDO:0021353 NCIT:C3552 NCIT:C3435 tumor of uterus MONDO:0002716 childhood spinal cord tumor MONDO:0021234 NCIT:C9234 NCIT:C3381 spinal cord neoplasm MONDO:0002717 spinal cord intramedullary teratoma MONDO:0002718 NCIT:C5428 NCIT:C5441 central nervous system teratoma MONDO:0002718 central nervous system teratoma MONDO:0019500 NCIT:C5441 NCIT:C189045 extragonadal teratoma MONDO:0002718 central nervous system teratoma MONDO:0020574 NCIT:C5441 NCIT:C100093 central nervous system nongerminomatous germ cell tumor MONDO:0002719 conus medullaris neoplasm MONDO:0021234 NCIT:C5443 NCIT:C3381 spinal cord neoplasm MONDO:0002720 sella turcica neoplasm MONDO:0002785 NCIT:C4944 NCIT:C4676 skull base neoplasm MONDO:0002722 olfactory nerve neoplasm MONDO:0002633 NCIT:C5121 NCIT:C2963 cranial nerve neoplasm MONDO:0002722 olfactory nerve neoplasm MONDO:0002727 NCIT:C5121 NCIT:C27210 olfactory nerve disorder MONDO:0002724 mast cell neoplasm MONDO:0005170 NCIT:C9295 NCIT:C9290 myeloid neoplasm MONDO:0002728 rhabdoid tumor MONDO:0005564 NCIT:C3808 NCIT:C3264 embryonal neoplasm MONDO:0002729 rhabdoid tumor of the kidney MONDO:0002728 NCIT:C8715 NCIT:C3808 rhabdoid tumor MONDO:0002730 childhood kidney neoplasm MONDO:0021163 NCIT:C6563 NCIT:C3150 kidney neoplasm MONDO:0002731 cerebral hemisphere cancer MONDO:0002071 NCIT:C4577 NCIT:C4964 supratentorial cancer MONDO:0002731 cerebral hemisphere cancer MONDO:0021374 NCIT:C4577 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0002732 lung benign neoplasm MONDO:0000382 NCIT:C4454 NCIT:C8531 respiratory system benign neoplasm MONDO:0002732 lung benign neoplasm MONDO:0000634 NCIT:C4454 NCIT:C4565 thoracic benign neoplasm MONDO:0002732 lung benign neoplasm MONDO:0021117 NCIT:C4454 NCIT:C3200 lung neoplasm MONDO:0002735 anal canal adenocarcinoma MONDO:0002652 NCIT:C7471 NCIT:C5600 anus adenocarcinoma MONDO:0002735 anal canal adenocarcinoma MONDO:0007108 NCIT:C7471 NCIT:C7489 anal canal carcinoma MONDO:0002736 ampulla of vater mucinous adenocarcinoma MONDO:0002670 NCIT:C27416 NCIT:C6650 ampulla of vater adenocarcinoma MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma MONDO:0002665 NCIT:C5846 NCIT:C7975 extrahepatic bile duct adenocarcinoma MONDO:0002739 extrahepatic bile duct mucinous adenocarcinoma MONDO:0004957 NCIT:C5846 NCIT:C26712 mucinous adenocarcinoma MONDO:0002740 uterine ligament mucinous adenocarcinoma MONDO:0002741 NCIT:C40137 NCIT:C40135 uterine ligament adenocarcinoma MONDO:0002742 cervical mucinous adenocarcinoma MONDO:0004957 NCIT:C36095 NCIT:C26712 mucinous adenocarcinoma MONDO:0002742 cervical mucinous adenocarcinoma MONDO:0005153 NCIT:C36095 NCIT:C4029 cervical adenocarcinoma MONDO:0002744 fallopian tube mucinous adenocarcinoma MONDO:0002745 NCIT:C40103 NCIT:C40109 fallopian tube mucinous tumor MONDO:0002744 fallopian tube mucinous adenocarcinoma MONDO:0002746 NCIT:C40103 NCIT:C6265 fallopian tube adenocarcinoma MONDO:0002744 fallopian tube mucinous adenocarcinoma MONDO:0004957 NCIT:C40103 NCIT:C26712 mucinous adenocarcinoma MONDO:0002745 fallopian tube mucinous tumor MONDO:0021092 NCIT:C40109 NCIT:C3032 fallopian tube neoplasm MONDO:0002745 fallopian tube mucinous tumor MONDO:0024338 NCIT:C40109 NCIT:C7070 mucinous neoplasm MONDO:0002746 fallopian tube adenocarcinoma MONDO:0004970 NCIT:C6265 NCIT:C2852 adenocarcinoma MONDO:0002746 fallopian tube adenocarcinoma MONDO:0006206 NCIT:C6265 NCIT:C3867 fallopian tube carcinoma MONDO:0002747 endometrial mucinous adenocarcinoma MONDO:0004957 NCIT:C40144 NCIT:C26712 mucinous adenocarcinoma MONDO:0002748 rectum mucinous adenocarcinoma MONDO:0002169 NCIT:C7973 NCIT:C9383 rectum adenocarcinoma MONDO:0002749 extracranial neuroblastoma MONDO:0005072 NCIT:C5437 NCIT:C3270 neuroblastoma MONDO:0002750 bladder colloid adenocarcinoma MONDO:0002751 NCIT:C39837 NCIT:C4032 bladder adenocarcinoma MONDO:0002751 bladder adenocarcinoma MONDO:0004986 NCIT:C4032 NCIT:C4912 urinary bladder carcinoma MONDO:0002752 ovarian adenocarcinoma MONDO:0004970 NCIT:C7700 NCIT:C2852 adenocarcinoma MONDO:0002752 ovarian adenocarcinoma MONDO:0005140 NCIT:C7700 NCIT:C4908 ovarian carcinoma MONDO:0002754 extramedullary plasmacytoma MONDO:0005615 NCIT:C4002 NCIT:C9349 plasmacytoma MONDO:0002758 vulva verrucous carcinoma MONDO:0006006 NCIT:C6383 NCIT:C3781 verrucous carcinoma MONDO:0002758 vulva verrucous carcinoma MONDO:0024609 NCIT:C6383 NCIT:C4052 vulvar squamous cell carcinoma MONDO:0002759 bladder verrucous carcinoma MONDO:0002760 NCIT:C39832 NCIT:C4031 bladder squamous cell carcinoma MONDO:0002759 bladder verrucous carcinoma MONDO:0006006 NCIT:C39832 NCIT:C3781 verrucous carcinoma MONDO:0002760 bladder squamous cell carcinoma MONDO:0004986 NCIT:C4031 NCIT:C4912 urinary bladder carcinoma MONDO:0002761 cervical verrucous carcinoma MONDO:0006006 NCIT:C40190 NCIT:C3781 verrucous carcinoma MONDO:0002761 cervical verrucous carcinoma MONDO:0006143 NCIT:C40190 NCIT:C4028 cervical squamous cell carcinoma MONDO:0002762 esophagus verrucous carcinoma MONDO:0005580 NCIT:C27420 NCIT:C4024 esophageal squamous cell carcinoma MONDO:0002762 esophagus verrucous carcinoma MONDO:0006006 NCIT:C27420 NCIT:C3781 verrucous carcinoma MONDO:0002763 urethral verrucous carcinoma MONDO:0002764 NCIT:C39874 NCIT:C6165 urethra squamous cell carcinoma MONDO:0002763 urethral verrucous carcinoma MONDO:0006006 NCIT:C39874 NCIT:C3781 verrucous carcinoma MONDO:0002764 urethra squamous cell carcinoma MONDO:0005096 NCIT:C6165 NCIT:C2929 squamous cell carcinoma MONDO:0002764 urethra squamous cell carcinoma MONDO:0021327 NCIT:C6165 NCIT:C9106 carcinoma of urethra MONDO:0002766 larynx verrucous carcinoma MONDO:0005595 NCIT:C8188 NCIT:C4044 laryngeal squamous cell carcinoma MONDO:0002766 larynx verrucous carcinoma MONDO:0006006 NCIT:C8188 NCIT:C3781 verrucous carcinoma MONDO:0002772 intraventricular meningioma MONDO:0002682 NCIT:C5273 NCIT:C2937 cerebral ventricle cancer MONDO:0002778 epidural spinal canal meningioma MONDO:0001279 NCIT:C5310 NCIT:C5134 intraspinal meningioma MONDO:0002779 central nervous system chondroma MONDO:0006423 NCIT:C7001 NCIT:C9482 soft tissue chondroma MONDO:0002781 glossopharyngeal nerve paralysis MONDO:0002639 NCIT:C27335 NCIT:C27211 glossopharyngeal nerve disorder MONDO:0002781 glossopharyngeal nerve paralysis MONDO:0002782 NCIT:C27335 NCIT:C26941 cranial nerve palsy MONDO:0002785 skull base neoplasm MONDO:0024653 NCIT:C4676 NCIT:C3375 skull neoplasm MONDO:0002786 diencephalic cancer MONDO:0002071 NCIT:C5126 NCIT:C4964 supratentorial cancer MONDO:0002787 adamantinous craniopharyngioma MONDO:0018907 NCIT:C4726 NCIT:C2964 craniopharyngioma MONDO:0002788 papillary craniopharyngioma MONDO:0018907 NCIT:C4725 NCIT:C2964 craniopharyngioma MONDO:0002791 large cell medulloblastoma MONDO:0007959 NCIT:C6904 NCIT:C3222 medulloblastoma MONDO:0002792 cerebellar vermis medulloblastoma MONDO:0007959 NCIT:C5401 NCIT:C3222 medulloblastoma MONDO:0002794 adult medulloblastoma MONDO:0003260 NCIT:C4011 NCIT:C5968 adult cerebellar neoplasm MONDO:0002794 adult medulloblastoma MONDO:0007959 NCIT:C4011 NCIT:C3222 medulloblastoma MONDO:0002795 adult central nervous system primitive neuroectodermal neoplasm MONDO:0000640 NCIT:C5411 NCIT:C5398 central nervous system primitive neuroectodermal neoplasm MONDO:0002796 melanotic medulloblastoma MONDO:0007959 NCIT:C9497 NCIT:C3222 medulloblastoma MONDO:0002797 childhood medulloblastoma MONDO:0003263 NCIT:C3997 NCIT:C5970 childhood cerebellar neoplasm MONDO:0002797 childhood medulloblastoma MONDO:0007959 NCIT:C3997 NCIT:C3222 medulloblastoma MONDO:0002798 childhood central nervous system primitive neuroectodermal neoplasm MONDO:0000640 NCIT:C5961 NCIT:C5398 central nervous system primitive neuroectodermal neoplasm MONDO:0002805 hidradenoma MONDO:0021110 NCIT:C7563 NCIT:C7560 sweat gland adenoma MONDO:0002806 bronchogenic carcinoma MONDO:0001672 NCIT:C35875 NCIT:C156885 bronchus cancer MONDO:0002806 bronchogenic carcinoma MONDO:0005138 NCIT:C35875 NCIT:C4878 lung carcinoma MONDO:0002808 pancreatic serous cystadenoma MONDO:0002809 NCIT:C5712 NCIT:C4374 pancreatic cystadenoma MONDO:0002808 pancreatic serous cystadenoma MONDO:0005177 NCIT:C5712 NCIT:C3783 serous cystadenoma MONDO:0002809 pancreatic cystadenoma MONDO:0002369 NCIT:C4374 NCIT:C2972 cystadenoma MONDO:0002810 pancreatic serous cystic neoplasm MONDO:0021076 NCIT:C41248 NCIT:C4445 pancreatic exocrine neoplasm MONDO:0002817 adrenal gland cancer MONDO:0005941 NCIT:C9338 NCIT:C3537 retroperitoneal cancer MONDO:0002817 adrenal gland cancer MONDO:0021227 NCIT:C9338 NCIT:C2859 adrenal gland neoplasm MONDO:0002822 trabecular adenocarcinoma MONDO:0004970 NCIT:C4068 NCIT:C2852 adenocarcinoma MONDO:0002828 Bartholin gland transitional cell carcinoma MONDO:0002829 NCIT:C40297 NCIT:C9055 bartholin gland carcinoma MONDO:0002828 Bartholin gland transitional cell carcinoma MONDO:0006474 NCIT:C40297 NCIT:C2930 transitional cell carcinoma MONDO:0002829 bartholin gland carcinoma MONDO:0005215 NCIT:C9055 NCIT:C4866 vulvar carcinoma MONDO:0002829 bartholin gland carcinoma MONDO:0021114 NCIT:C9055 NCIT:C6434 Bartholin gland neoplasm MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma MONDO:0044787 NCIT:C54287 NCIT:C68611 nasal cavity and paranasal sinus squamous cell carcinoma MONDO:0002832 endometrial transitional cell carcinoma MONDO:0002447 NCIT:C40154 NCIT:C7558 endometrial carcinoma MONDO:0002832 endometrial transitional cell carcinoma MONDO:0006474 NCIT:C40154 NCIT:C2930 transitional cell carcinoma MONDO:0002833 fallopian tube transitional cell carcinoma MONDO:0006206 NCIT:C40104 NCIT:C3867 fallopian tube carcinoma MONDO:0002833 fallopian tube transitional cell carcinoma MONDO:0006474 NCIT:C40104 NCIT:C2930 transitional cell carcinoma MONDO:0002834 primary prostate urothelial carcinoma MONDO:0005159 NCIT:C39898 NCIT:C4863 prostate carcinoma MONDO:0002836 urethra transitional cell carcinoma MONDO:0021327 NCIT:C6166 NCIT:C9106 carcinoma of urethra MONDO:0002836 urethra transitional cell carcinoma MONDO:0040679 NCIT:C6166 NCIT:C4030 urothelial carcinoma MONDO:0002837 sarcomatoid transitional cell carcinoma MONDO:0006406 NCIT:C4120 NCIT:C27004 sarcomatoid carcinoma MONDO:0002837 sarcomatoid transitional cell carcinoma MONDO:0006474 NCIT:C4120 NCIT:C2930 transitional cell carcinoma MONDO:0002847 skeletal muscle cancer MONDO:0002848 NCIT:C6516 NCIT:C6514 skeletal muscle neoplasm MONDO:0002847 skeletal muscle cancer MONDO:0005864 NCIT:C6516 NCIT:C4883 muscle cancer MONDO:0002849 liver rhabdomyosarcoma MONDO:0002397 NCIT:C5834 NCIT:C4437 liver sarcoma MONDO:0002850 central nervous system rhabdomyosarcoma MONDO:0002217 NCIT:C5464 NCIT:C5153 central nervous system sarcoma MONDO:0002850 central nervous system rhabdomyosarcoma MONDO:0005212 NCIT:C5464 NCIT:C3359 rhabdomyosarcoma MONDO:0002851 mediastinum rhabdomyosarcoma MONDO:0002852 NCIT:C6617 NCIT:C6606 mediastinum sarcoma MONDO:0002851 mediastinum rhabdomyosarcoma MONDO:0005212 NCIT:C6617 NCIT:C3359 rhabdomyosarcoma MONDO:0002852 mediastinum sarcoma MONDO:0018078 NCIT:C6606 NCIT:C9306 soft tissue sarcoma MONDO:0002852 mediastinum sarcoma MONDO:0037743 NCIT:C6606 NCIT:C6642 mediastinal soft tissue cancer MONDO:0002853 rectum rhabdomyosarcoma MONDO:0002168 NCIT:C5627 NCIT:C5548 rectum sarcoma MONDO:0002854 prostate sarcoma MONDO:0008315 NCIT:C7731 NCIT:C7378 prostate cancer MONDO:0002854 prostate sarcoma MONDO:0018078 NCIT:C7731 NCIT:C9306 soft tissue sarcoma MONDO:0002856 gallbladder rhabdomyosarcoma MONDO:0002857 NCIT:C5839 NCIT:C5736 gallbladder sarcoma MONDO:0002857 gallbladder sarcoma MONDO:0005411 NCIT:C5736 NCIT:C7481 gallbladder cancer MONDO:0002858 ovary rhabdomyosarcoma MONDO:0002225 NCIT:C5236 NCIT:C8267 ovarian sarcoma MONDO:0002858 ovary rhabdomyosarcoma MONDO:0005212 NCIT:C5236 NCIT:C3359 rhabdomyosarcoma MONDO:0002859 breast rhabdomyosarcoma MONDO:0002490 NCIT:C5190 NCIT:C4670 breast sarcoma MONDO:0002859 breast rhabdomyosarcoma MONDO:0005212 NCIT:C5190 NCIT:C3359 rhabdomyosarcoma MONDO:0002860 testis rhabdomyosarcoma MONDO:0002861 NCIT:C6378 NCIT:C6359 testis sarcoma MONDO:0002860 testis rhabdomyosarcoma MONDO:0005212 NCIT:C6378 NCIT:C3359 rhabdomyosarcoma MONDO:0002861 testis sarcoma MONDO:0005447 NCIT:C6359 NCIT:C7251 testicular cancer MONDO:0002861 testis sarcoma MONDO:0018078 NCIT:C6359 NCIT:C9306 soft tissue sarcoma MONDO:0002863 rhabdomyosarcoma with mixed embryonal and alveolar features MONDO:0005212 NCIT:C4259 NCIT:C3359 rhabdomyosarcoma MONDO:0002864 anus rhabdomyosarcoma MONDO:0002865 NCIT:C5610 NCIT:C5611 anus sarcoma MONDO:0002865 anus sarcoma MONDO:0001879 NCIT:C5611 NCIT:C7379 anus cancer MONDO:0002867 pancreatic cystadenocarcinoma MONDO:0005596 NCIT:C3874 NCIT:C2971 cystadenocarcinoma MONDO:0002867 pancreatic cystadenocarcinoma MONDO:0006047 NCIT:C3874 NCIT:C8294 pancreatic adenocarcinoma MONDO:0002868 bile duct mucinous cystic neoplasm with an associated invasive carcinoma MONDO:0003420 NCIT:C4130 NCIT:C4129 bile duct cystadenoma MONDO:0002871 testicular trophoblastic tumor MONDO:0002872 NCIT:C39934 NCIT:C3422 trophoblastic neoplasm MONDO:0002871 testicular trophoblastic tumor MONDO:0006447 NCIT:C39934 NCIT:C9313 testicular non-seminomatous germ cell tumor MONDO:0002874 testicular pure germ cell tumor MONDO:0010108 NCIT:C39915 NCIT:C8591 testicular germ cell tumor MONDO:0002876 cervical adenosarcoma MONDO:0005636 NCIT:C40229 NCIT:C9474 adenosarcoma MONDO:0002876 cervical adenosarcoma MONDO:0016277 NCIT:C40229 NCIT:C40228 malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO:0002877 cervical carcinosarcoma MONDO:0006485 NCIT:C36097 NCIT:C42700 uterine carcinosarcoma MONDO:0002877 cervical carcinosarcoma MONDO:0016277 NCIT:C36097 NCIT:C40228 malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO:0002878 uterine corpus adenosarcoma MONDO:0002879 NCIT:C6336 NCIT:C6311 uterine body mixed cancer MONDO:0002878 uterine corpus adenosarcoma MONDO:0005636 NCIT:C6336 NCIT:C9474 adenosarcoma MONDO:0002879 uterine body mixed cancer MONDO:0005853 NCIT:C6311 NCIT:C3729 malignant mixed neoplasm MONDO:0002879 uterine body mixed cancer MONDO:0016255 NCIT:C6311 NCIT:C40181 uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0002880 ovarian adenosarcoma MONDO:0005636 NCIT:C7317 NCIT:C9474 adenosarcoma MONDO:0002881 vaginal adenosarcoma MONDO:0005636 NCIT:C40277 NCIT:C9474 adenosarcoma MONDO:0002882 colon neuroendocrine neoplasm MONDO:0005401 NCIT:C5697 NCIT:C2953 colonic neoplasm MONDO:0002883 intestinal neuroendocrine neoplasm MONDO:0021118 NCIT:C5695 NCIT:C3141 intestinal neoplasm MONDO:0002883 intestinal neuroendocrine neoplasm MONDO:0024503 NCIT:C5695 NCIT:C27721 digestive system neuroendocrine neoplasm MONDO:0002888 intraorbital meningioma MONDO:0024611 NCIT:C6778 NCIT:C3290 orbit neoplasm MONDO:0002889 orbital cancer MONDO:0024611 NCIT:C3562 NCIT:C3290 orbit neoplasm MONDO:0002892 skull base chordoma MONDO:0008978 NCIT:C5453 NCIT:C2947 chordoma MONDO:0002894 spinal chordoma MONDO:0008978 NCIT:C5156 NCIT:C2947 chordoma MONDO:0002898 skin cancer MONDO:0002531 NCIT:C2920 NCIT:C3372 skin neoplasm MONDO:0002899 differentiating neuroblastoma MONDO:0005072 NCIT:C42048 NCIT:C3270 neuroblastoma MONDO:0002900 cerebral neuroblastoma MONDO:0005072 NCIT:C4826 NCIT:C3270 neuroblastoma MONDO:0002912 brainstem cancer MONDO:0003107 NCIT:C3570 NCIT:C4966 infratentorial cancer MONDO:0002912 brainstem cancer MONDO:0021228 NCIT:C3570 NCIT:C4869 brainstem neoplasm MONDO:0002914 childhood brain stem neoplasm MONDO:0002915 NCIT:C5969 NCIT:C5802 childhood infratentorial neoplasm MONDO:0002915 childhood infratentorial neoplasm MONDO:0037736 NCIT:C5802 NCIT:C3139 infratentorial neoplasm MONDO:0002916 brainstem intraparenchymal clear cell meningioma MONDO:0002918 NCIT:C5295 NCIT:C4722 clear cell meningioma MONDO:0002920 malignant ovarian Brenner tumor MONDO:0002370 NCIT:C4270 NCIT:C3872 ovarian Brenner tumor MONDO:0002923 uterine corpus endometrial stromal sarcoma MONDO:0005210 NCIT:C40219 NCIT:C6339 uterine corpus sarcoma MONDO:0002923 uterine corpus endometrial stromal sarcoma MONDO:0006745 NCIT:C40219 NCIT:C8973 endometrioid stromal sarcoma MONDO:0002924 smooth muscle cancer MONDO:0005864 NCIT:C6511 NCIT:C4883 muscle cancer MONDO:0002924 smooth muscle cancer MONDO:0006975 NCIT:C6511 NCIT:C3751 smooth muscle tumor MONDO:0002926 clear cell sarcoma MONDO:0018078 NCIT:C3745 NCIT:C9306 soft tissue sarcoma MONDO:0002927 spindle cell sarcoma MONDO:0005089 NCIT:C27005 NCIT:C9118 sarcoma MONDO:0002928 carcinosarcoma MONDO:0005853 NCIT:C34448 NCIT:C3729 malignant mixed neoplasm MONDO:0002930 kidney sarcoma MONDO:0002367 NCIT:C4525 NCIT:C7548 kidney cancer MONDO:0002930 kidney sarcoma MONDO:0018078 NCIT:C4525 NCIT:C9306 soft tissue sarcoma MONDO:0002934 intravascular angioleiomyoma MONDO:0006646 NCIT:C5355 NCIT:C3747 angioleiomyoma MONDO:0002935 penis basal cell carcinoma MONDO:0005341 NCIT:C39961 NCIT:C2921 skin basal cell carcinoma MONDO:0002936 scrotum basal cell carcinoma MONDO:0005341 NCIT:C6386 NCIT:C2921 skin basal cell carcinoma MONDO:0002940 anal margin basal cell carcinoma MONDO:0005341 NCIT:C7473 NCIT:C2921 skin basal cell carcinoma MONDO:0002941 anal margin carcinoma MONDO:0002656 NCIT:C7472 NCIT:C4914 skin carcinoma MONDO:0002941 anal margin carcinoma MONDO:0003199 NCIT:C7472 NCIT:C9291 anal carcinoma MONDO:0002943 external ear basal cell carcinoma MONDO:0005341 NCIT:C6082 NCIT:C2921 skin basal cell carcinoma MONDO:0002944 external ear carcinoma MONDO:0003574 NCIT:C6081 NCIT:C4653 external ear cancer MONDO:0002945 micronodular basal cell carcinoma MONDO:0005341 NCIT:C27541 NCIT:C2921 skin basal cell carcinoma MONDO:0002948 skin fibroepithelial basal cell carcinoma MONDO:0005341 NCIT:C4109 NCIT:C2921 skin basal cell carcinoma MONDO:0002949 morpheaform basal cell carcinoma MONDO:0005341 NCIT:C27182 NCIT:C2921 skin basal cell carcinoma MONDO:0002950 skin clear cell basal cell carcinoma MONDO:0005341 NCIT:C27536 NCIT:C2921 skin basal cell carcinoma MONDO:0002951 skin adenoid basal cell carcinoma MONDO:0005341 NCIT:C27535 NCIT:C2921 skin basal cell carcinoma MONDO:0002953 skin infiltrative basal cell carcinoma MONDO:0005341 NCIT:C27539 NCIT:C2921 skin basal cell carcinoma MONDO:0002955 vulva basal cell carcinoma MONDO:0005341 NCIT:C6381 NCIT:C2921 skin basal cell carcinoma MONDO:0002957 sarcomatoid basal cell carcinoma MONDO:0005341 NCIT:C38111 NCIT:C2921 skin basal cell carcinoma MONDO:0002958 signet ring basal cell carcinoma MONDO:0005341 NCIT:C38110 NCIT:C2921 skin basal cell carcinoma MONDO:0002961 large cell acanthoma MONDO:0002093 NCIT:C27518 NCIT:C7419 acanthoma MONDO:0002962 epidermolytic acanthoma MONDO:0002093 NCIT:C27516 NCIT:C7419 acanthoma MONDO:0002963 acantholytic acanthoma MONDO:0002093 NCIT:C27517 NCIT:C7419 acanthoma MONDO:0002966 splenic manifestation of prolymphocytic leukemia MONDO:0001023 NCIT:C7297 NCIT:C3181 prolymphocytic leukemia MONDO:0002966 splenic manifestation of prolymphocytic leukemia MONDO:0004107 NCIT:C7297 NCIT:C7296 splenic manifestation of leukemia MONDO:0002969 ciliary body cancer MONDO:0021229 NCIT:C4766 NCIT:C4364 ciliary body neoplasm MONDO:0002971 amelanotic melanoma MONDO:0005105 NCIT:C3802 NCIT:C3224 melanoma MONDO:0002973 epithelioid cell melanoma MONDO:0005105 NCIT:C4236 NCIT:C3224 melanoma MONDO:0002974 cervical cancer MONDO:0002715 NCIT:C9311 NCIT:C3552 uterine cancer MONDO:0002974 cervical cancer MONDO:0021230 NCIT:C9311 NCIT:C2940 uterine cervix neoplasm MONDO:0002975 malignant breast melanoma MONDO:0005105 NCIT:C8410 NCIT:C3224 melanoma MONDO:0002975 malignant breast melanoma MONDO:0007254 NCIT:C8410 NCIT:C9335 breast cancer MONDO:0002978 orbit alveolar rhabdomyosarcoma MONDO:0002580 NCIT:C6247 NCIT:C4543 orbit rhabdomyosarcoma MONDO:0002979 papillary squamous carcinoma MONDO:0005096 NCIT:C4102 NCIT:C2929 squamous cell carcinoma MONDO:0002979 papillary squamous carcinoma MONDO:0006509 NCIT:C4102 NCIT:C2927 papillary carcinoma MONDO:0002981 peripheral primitive neuroectodermal tumor of bone MONDO:0018271 NCIT:C8776 NCIT:C9341 peripheral primitive neuroectodermal tumor MONDO:0002981 peripheral primitive neuroectodermal tumor of bone MONDO:0021123 NCIT:C8776 NCIT:C35871 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues MONDO:0018271 NCIT:C27471 NCIT:C9341 peripheral primitive neuroectodermal tumor MONDO:0002982 peripheral primitive neuroectodermal tumor of soft tissues MONDO:0021039 NCIT:C27471 NCIT:C27293 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0002988 cervix melanoma MONDO:0002974 NCIT:C40239 NCIT:C9311 cervical cancer MONDO:0002989 benign fibrous histiocytoma MONDO:0005509 NCIT:C3739 NCIT:C35765 histiocytoma MONDO:0002990 benign deep fibrous histiocytoma MONDO:0002989 NCIT:C6492 NCIT:C3739 benign fibrous histiocytoma MONDO:0002991 adenocarcinofibroma MONDO:0005853 NCIT:C40035 NCIT:C3729 malignant mixed neoplasm MONDO:0002994 pancreatic delta cell neuroendocrine tumor MONDO:0019954 NCIT:C28396 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0018510 NCIT:C96061 NCIT:C5803 small intestine neuroendocrine neoplasm MONDO:0002996 cavernous sinus meningioma MONDO:0002998 NCIT:C5268 NCIT:C5272 skull base meningioma MONDO:0002998 skull base meningioma MONDO:0002785 NCIT:C5272 NCIT:C4676 skull base neoplasm MONDO:0003000 central nervous system germ cell tumor MONDO:0018201 NCIT:C5461 NCIT:C3918 extragonadal germ cell tumor MONDO:0003001 seminoma MONDO:0006290 NCIT:C9309 NCIT:C4925 malignant germ cell tumor MONDO:0003001 seminoma MONDO:0020580 NCIT:C9309 NCIT:C121618 germinomatous germ cell tumor MONDO:0003003 cervical alveolar soft part sarcoma MONDO:0011655 NCIT:C40225 NCIT:C3750 alveolar soft part sarcoma MONDO:0003007 childhood kidney cell carcinoma MONDO:0005549 NCIT:C6568 NCIT:C9385 renal cell adenocarcinoma MONDO:0003008 hereditary renal cell carcinoma MONDO:0005549 NCIT:C39789 NCIT:C9385 renal cell adenocarcinoma MONDO:0003012 sarcomatoid renal cell carcinoma MONDO:0006406 NCIT:C27893 NCIT:C27004 sarcomatoid carcinoma MONDO:0003021 central nervous system angiosarcoma MONDO:0002217 NCIT:C5450 NCIT:C5153 central nervous system sarcoma MONDO:0003022 pediatric angiosarcoma MONDO:0016982 NCIT:C9174 NCIT:C3088 angiosarcoma MONDO:0003024 breast angiosarcoma MONDO:0002490 NCIT:C5184 NCIT:C4670 breast sarcoma MONDO:0003025 conventional angiosarcoma MONDO:0016982 NCIT:C9426 NCIT:C3088 angiosarcoma MONDO:0003026 gallbladder angiosarcoma MONDO:0002857 NCIT:C5840 NCIT:C5736 gallbladder sarcoma MONDO:0003027 thyroid gland angiosarcoma MONDO:0003028 NCIT:C6043 NCIT:C6041 thyroid sarcoma MONDO:0003028 thyroid sarcoma MONDO:0002108 NCIT:C6041 NCIT:C7510 thyroid cancer MONDO:0003028 thyroid sarcoma MONDO:0018078 NCIT:C6041 NCIT:C9306 soft tissue sarcoma MONDO:0003029 skin angiosarcoma MONDO:0006414 NCIT:C4489 NCIT:C5585 skin sarcoma MONDO:0003033 prostate angiosarcoma MONDO:0002854 NCIT:C5528 NCIT:C7731 prostate sarcoma MONDO:0003034 mediastinum angiosarcoma MONDO:0002852 NCIT:C6613 NCIT:C6606 mediastinum sarcoma MONDO:0003035 ovarian angiosarcoma MONDO:0002225 NCIT:C5232 NCIT:C8267 ovarian sarcoma MONDO:0003041 pediatric mesenchymal chondrosarcoma MONDO:0006853 NCIT:C27374 NCIT:C3737 mesenchymal chondrosarcoma MONDO:0003042 adult mesenchymal chondrosarcoma MONDO:0006853 NCIT:C27375 NCIT:C3737 mesenchymal chondrosarcoma MONDO:0003046 anus neoplasm MONDO:0002519 NCIT:C2877 NCIT:C26695 anus disorder MONDO:0003047 thymic large cell neuroendocrine carcinoma MONDO:0020516 NCIT:C6461 NCIT:C171031 thymic neuroendocrine carcinoma MONDO:0003050 lung large cell carcinoma MONDO:0005232 NCIT:C4450 NCIT:C3780 large cell carcinoma MONDO:0003050 lung large cell carcinoma MONDO:0005233 NCIT:C4450 NCIT:C2926 non-small cell lung carcinoma MONDO:0003054 benign meningioma MONDO:0021527 NCIT:C4055 NCIT:C4957 benign neoplasm of meninges MONDO:0003057 pediatric meningioma MONDO:0016642 NCIT:C8264 NCIT:C3230 meningioma MONDO:0003061 benign muscle neoplasm MONDO:0000636 NCIT:C4882 NCIT:C166356 musculoskeletal system benign neoplasm MONDO:0003061 benign muscle neoplasm MONDO:0021545 NCIT:C4882 NCIT:C4063 myomatous neoplasm MONDO:0003062 intestinal benign neoplasm MONDO:0000385 NCIT:C4609 NCIT:C4787 benign digestive system neoplasm MONDO:0003062 intestinal benign neoplasm MONDO:0021118 NCIT:C4609 NCIT:C3141 intestinal neoplasm MONDO:0003064 inverted transitional cell papilloma MONDO:0002537 NCIT:C4118 NCIT:C3793 inverted papilloma MONDO:0003064 inverted transitional cell papilloma MONDO:0005605 NCIT:C4118 NCIT:C4115 transitional cell papilloma MONDO:0003072 retinal cancer MONDO:0002236 NCIT:C3216 NCIT:C4767 ocular cancer MONDO:0003072 retinal cancer MONDO:0021231 NCIT:C3216 NCIT:C4800 retina neoplasm MONDO:0003073 trilateral retinoblastoma MONDO:0008380 NCIT:C7019 NCIT:C7541 retinoblastoma MONDO:0003075 bilateral retinoblastoma MONDO:0008380 NCIT:C8713 NCIT:C7541 retinoblastoma MONDO:0003076 unilateral retinoblastoma MONDO:0008380 NCIT:C8714 NCIT:C7541 retinoblastoma MONDO:0003077 intraocular retinoblastoma MONDO:0008380 NCIT:C7846 NCIT:C7541 retinoblastoma MONDO:0003078 extraocular retinoblastoma MONDO:0008380 NCIT:C7848 NCIT:C7541 retinoblastoma MONDO:0003079 mastocytoma MONDO:0002724 NCIT:C9303 NCIT:C9295 mast cell neoplasm MONDO:0003083 venous hemangioma MONDO:0006500 NCIT:C4296 NCIT:C3085 hemangioma MONDO:0003086 thymic mucoepidermoid carcinoma MONDO:0003036 NCIT:C6457 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003087 mucoepidermoid breast carcinoma MONDO:0003036 NCIT:C5166 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003087 mucoepidermoid breast carcinoma MONDO:0006256 NCIT:C5166 NCIT:C9245 invasive breast carcinoma MONDO:0003088 intramuscular hemangioma MONDO:0003096 NCIT:C3699 NCIT:C6555 deep hemangioma MONDO:0003089 extrahepatic bile duct mucoepidermoid carcinoma MONDO:0003036 NCIT:C5862 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003090 extrahepatic bile duct carcinoma MONDO:0005496 NCIT:C3860 NCIT:C27814 bile duct carcinoma MONDO:0003090 extrahepatic bile duct carcinoma MONDO:0021321 NCIT:C3860 NCIT:C7483 malignant tumor of extrahepatic bile duct MONDO:0003091 cutaneous mucoepidermoid carcinoma MONDO:0003036 NCIT:C4472 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003092 lacrimal gland mucoepidermoid carcinoma MONDO:0003036 NCIT:C6091 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003093 mucoepidermoid esophageal carcinoma MONDO:0003036 NCIT:C5343 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003095 laryngeal mucoepidermoid carcinoma MONDO:0002358 NCIT:C9463 NCIT:C4855 laryngeal carcinoma MONDO:0003095 laryngeal mucoepidermoid carcinoma MONDO:0003036 NCIT:C9463 NCIT:C3772 mucoepidermoid carcinoma MONDO:0003096 deep hemangioma MONDO:0006500 NCIT:C6555 NCIT:C3085 hemangioma MONDO:0003097 childhood mediastinal neurogenic neoplasm MONDO:0003098 NCIT:C5429 NCIT:C6624 mediastinal neural neoplasm MONDO:0003098 mediastinal neural neoplasm MONDO:0021386 NCIT:C6624 NCIT:C3221 neoplasm of mediastinum MONDO:0003100 nerve plexus neoplasm MONDO:0001406 NCIT:C5822 NCIT:C3321 peripheral nervous system neoplasm MONDO:0003104 epicardium cancer MONDO:0021379 NCIT:C4568 NCIT:C5347 neoplasm of epicardium MONDO:0003107 infratentorial cancer MONDO:0001657 NCIT:C4966 NCIT:C3568 brain cancer MONDO:0003108 cervicomedullary junction neoplasm MONDO:0021234 NCIT:C5423 NCIT:C3381 spinal cord neoplasm MONDO:0003109 foramen magnum meningioma MONDO:0002998 NCIT:C5280 NCIT:C5272 skull base meningioma MONDO:0003110 skin hemangioma MONDO:0006500 NCIT:C4905 NCIT:C3085 hemangioma MONDO:0003111 gastric neuroendocrine neoplasm MONDO:0021085 NCIT:C5696 NCIT:C3387 gastric neoplasm MONDO:0003111 gastric neuroendocrine neoplasm MONDO:0024503 NCIT:C5696 NCIT:C27721 digestive system neuroendocrine neoplasm MONDO:0003112 malignant gastric germ cell tumor MONDO:0001056 NCIT:C5486 NCIT:C9331 gastric cancer MONDO:0003112 malignant gastric germ cell tumor MONDO:0003113 NCIT:C5486 NCIT:C8881 extragonadal germ cell cancer MONDO:0003113 extragonadal germ cell cancer MONDO:0006290 NCIT:C8881 NCIT:C4925 malignant germ cell tumor MONDO:0003113 extragonadal germ cell cancer MONDO:0018201 NCIT:C8881 NCIT:C3918 extragonadal germ cell tumor MONDO:0003115 subglottic hemangioma MONDO:0021530 NCIT:C6026 NCIT:C4427 benign neoplasm of subglottis MONDO:0003118 testicular Brenner tumor MONDO:0024235 NCIT:C39953 NCIT:C39954 Brenner tumor MONDO:0003120 mixed testicular germ cell cancer MONDO:0003510 NCIT:C6347 NCIT:C9063 malignant testicular germ cell tumor MONDO:0003120 mixed testicular germ cell cancer MONDO:0015864 NCIT:C6347 NCIT:C4290 mixed germ cell tumor MONDO:0003124 testicular Leydig cell tumor MONDO:0003125 NCIT:C6356 NCIT:C6358 testicular sex cord-stromal neoplasm MONDO:0003124 testicular Leydig cell tumor MONDO:0006266 NCIT:C6356 NCIT:C3188 Leydig cell tumor MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0006055 NCIT:C6358 NCIT:C3794 sex cord-stromal tumor MONDO:0003125 testicular sex cord-stromal neoplasm MONDO:0021348 NCIT:C6358 NCIT:C3404 neoplasm of testis MONDO:0003126 breast hemangioma MONDO:0000620 NCIT:C5353 NCIT:C4505 breast benign neoplasm MONDO:0003126 breast hemangioma MONDO:0006500 NCIT:C5353 NCIT:C3085 hemangioma MONDO:0003141 cerebellopontine angle embryonal tumor MONDO:0002553 NCIT:C5436 NCIT:C5414 cerebellopontine angle tumor MONDO:0003141 cerebellopontine angle embryonal tumor MONDO:0003107 NCIT:C5436 NCIT:C4966 infratentorial cancer MONDO:0003142 intracranial primitive neuroectodermal tumor MONDO:0000640 NCIT:C5817 NCIT:C5398 central nervous system primitive neuroectodermal neoplasm MONDO:0003142 intracranial primitive neuroectodermal tumor MONDO:0001657 NCIT:C5817 NCIT:C3568 brain cancer MONDO:0003145 supratentorial primitive neuroectodermal tumor MONDO:0002071 NCIT:C6968 NCIT:C4964 supratentorial cancer MONDO:0003152 adult brainstem gliosarcoma MONDO:0003153 NCIT:C9370 NCIT:C9091 adult brainstem glioma MONDO:0003153 adult brainstem glioma MONDO:0002911 NCIT:C9091 NCIT:C8501 brain stem glioma MONDO:0003153 adult brainstem glioma MONDO:0024797 NCIT:C9091 NCIT:C5967 adult brain stem neoplasm MONDO:0003155 cavernous hemangioma MONDO:0006500 NCIT:C3086 NCIT:C3085 hemangioma MONDO:0003158 malignant myoepithelioma MONDO:0002380 NCIT:C7596 NCIT:C40392 myoepithelial tumor MONDO:0003158 malignant myoepithelioma MONDO:0004993 NCIT:C7596 NCIT:C2916 carcinoma MONDO:0003163 cauda equina intradural extramedullary astrocytoma MONDO:0003164 NCIT:C5408 NCIT:C5479 cauda equina neoplasm MONDO:0003163 cauda equina intradural extramedullary astrocytoma MONDO:0019781 NCIT:C5408 NCIT:C60781 astrocytoma (excluding glioblastoma) MONDO:0003164 cauda equina neoplasm MONDO:0003103 NCIT:C5479 NCIT:C5119 nerve root neoplasm MONDO:0003165 cerebellar astrocytoma MONDO:0002913 NCIT:C9475 NCIT:C2935 cerebellar neoplasm MONDO:0003165 cerebellar astrocytoma MONDO:0021631 NCIT:C9475 NCIT:C60780 brain astrocytoma MONDO:0003168 cerebellar pilocytic astrocytoma MONDO:0003165 NCIT:C6809 NCIT:C9475 cerebellar astrocytoma MONDO:0003169 diencephalic astrocytomas MONDO:0021631 NCIT:C5128 NCIT:C60780 brain astrocytoma MONDO:0003170 gliofibroma MONDO:0021636 NCIT:C5419 NCIT:C6958 astrocytic tumor MONDO:0003172 glomeruloid hemangioma MONDO:0006500 NCIT:C27505 NCIT:C3085 hemangioma MONDO:0003173 brain stem astrocytic neoplasm MONDO:0002911 NCIT:C7445 NCIT:C8501 brain stem glioma MONDO:0003173 brain stem astrocytic neoplasm MONDO:0021631 NCIT:C7445 NCIT:C60780 brain astrocytoma MONDO:0003174 spinal cord astrocytoma MONDO:0002542 NCIT:C4641 NCIT:C4534 spinal cord glioma MONDO:0003174 spinal cord astrocytoma MONDO:0019781 NCIT:C4641 NCIT:C60781 astrocytoma (excluding glioblastoma) MONDO:0003175 salivary gland adenoid cystic carcinoma MONDO:0000521 NCIT:C8026 NCIT:C9272 salivary gland carcinoma MONDO:0003175 salivary gland adenoid cystic carcinoma MONDO:0004971 NCIT:C8026 NCIT:C2970 adenoid cystic carcinoma MONDO:0003177 prostate adenoid cystic carcinoma MONDO:0004971 NCIT:C5539 NCIT:C2970 adenoid cystic carcinoma MONDO:0003180 cutaneous adenocystic carcinoma MONDO:0004971 NCIT:C4471 NCIT:C2970 adenoid cystic carcinoma MONDO:0003180 cutaneous adenocystic carcinoma MONDO:0005524 NCIT:C4471 NCIT:C6938 sweat gland carcinoma MONDO:0003181 lung adenoid cystic carcinoma MONDO:0004971 NCIT:C5666 NCIT:C2970 adenoid cystic carcinoma MONDO:0003184 trachea carcinoma MONDO:0001407 NCIT:C9347 NCIT:C9346 tracheal cancer MONDO:0003184 trachea carcinoma MONDO:0004993 NCIT:C9347 NCIT:C2916 carcinoma MONDO:0003185 adenoid cystic breast carcinoma MONDO:0004971 NCIT:C5130 NCIT:C2970 adenoid cystic carcinoma MONDO:0003185 adenoid cystic breast carcinoma MONDO:0006256 NCIT:C5130 NCIT:C9245 invasive breast carcinoma MONDO:0003186 esophageal adenoid cystic carcinoma MONDO:0004971 NCIT:C5342 NCIT:C2970 adenoid cystic carcinoma MONDO:0003187 Bartholin gland adenoid cystic carcinoma MONDO:0004971 NCIT:C40295 NCIT:C2970 adenoid cystic carcinoma MONDO:0003189 middle ear adenocarcinoma MONDO:0003190 NCIT:C6848 NCIT:C6089 middle ear carcinoma MONDO:0003189 middle ear adenocarcinoma MONDO:0004970 NCIT:C6848 NCIT:C2852 adenocarcinoma MONDO:0003190 middle ear carcinoma MONDO:0003275 NCIT:C6089 NCIT:C4765 middle ear cancer MONDO:0003191 rete ovarii adenocarcinoma MONDO:0003192 NCIT:C40017 NCIT:C40016 rete ovarii neoplasm MONDO:0003193 bile duct adenocarcinoma MONDO:0004970 NCIT:C27813 NCIT:C2852 adenocarcinoma MONDO:0003193 bile duct adenocarcinoma MONDO:0005496 NCIT:C27813 NCIT:C27814 bile duct carcinoma MONDO:0003196 appendix carcinoma MONDO:0001235 NCIT:C9330 NCIT:C9333 appendix cancer MONDO:0003197 granular cell carcinoma MONDO:0004970 NCIT:C3681 NCIT:C2852 adenocarcinoma MONDO:0003198 small intestine adenocarcinoma MONDO:0004970 NCIT:C7888 NCIT:C2852 adenocarcinoma MONDO:0003198 small intestine adenocarcinoma MONDO:0005522 NCIT:C7888 NCIT:C7724 small intestine carcinoma MONDO:0003199 anal carcinoma MONDO:0001879 NCIT:C9291 NCIT:C7379 anus cancer MONDO:0003200 urethra adenocarcinoma MONDO:0004970 NCIT:C6167 NCIT:C2852 adenocarcinoma MONDO:0003200 urethra adenocarcinoma MONDO:0021327 NCIT:C6167 NCIT:C9106 carcinoma of urethra MONDO:0003204 villous adenocarcinoma MONDO:0004970 NCIT:C4142 NCIT:C2852 adenocarcinoma MONDO:0003205 renal pelvis adenocarcinoma MONDO:0005519 NCIT:C6143 NCIT:C6142 renal pelvis carcinoma MONDO:0003206 acquired hemangioma MONDO:0006500 NCIT:C27018 NCIT:C3085 hemangioma MONDO:0003209 thymus gland adenocarcinoma MONDO:0004970 NCIT:C6459 NCIT:C2852 adenocarcinoma MONDO:0003209 thymus gland adenocarcinoma MONDO:0006451 NCIT:C6459 NCIT:C7569 thymic carcinoma MONDO:0003210 intrahepatic cholangiocarcinoma MONDO:0019087 NCIT:C35417 NCIT:C4436 cholangiocarcinoma MONDO:0003211 nasal cavity adenocarcinoma MONDO:0003212 NCIT:C6015 NCIT:C9336 nasal cavity carcinoma MONDO:0003212 nasal cavity carcinoma MONDO:0001128 NCIT:C9336 NCIT:C4918 nasal cavity cancer MONDO:0003214 apocrine adenocarcinoma MONDO:0003215 NCIT:C4169 NCIT:C6800 apocrine sweat gland cancer MONDO:0003214 apocrine adenocarcinoma MONDO:0005524 NCIT:C4169 NCIT:C6938 sweat gland carcinoma MONDO:0003215 apocrine sweat gland cancer MONDO:0002206 NCIT:C6800 NCIT:C4810 sweat gland cancer MONDO:0003215 apocrine sweat gland cancer MONDO:0003686 NCIT:C6800 NCIT:C6798 apocrine sweat gland neoplasm MONDO:0003216 ureter adenocarcinoma MONDO:0004970 NCIT:C6155 NCIT:C2852 adenocarcinoma MONDO:0003216 ureter adenocarcinoma MONDO:0006481 NCIT:C6155 NCIT:C8993 ureter carcinoma MONDO:0003218 adenocarcinoma in situ MONDO:0004647 NCIT:C4123 NCIT:C2917 in situ carcinoma MONDO:0003218 adenocarcinoma in situ MONDO:0004970 NCIT:C4123 NCIT:C2852 adenocarcinoma MONDO:0003219 gastroesophageal junction adenocarcinoma MONDO:0004970 NCIT:C9296 NCIT:C2852 adenocarcinoma MONDO:0003220 gallbladder carcinoma MONDO:0005411 NCIT:C3844 NCIT:C7481 gallbladder cancer MONDO:0003234 optic nerve astrocytoma MONDO:0003235 NCIT:C6769 NCIT:C4537 optic nerve glioma MONDO:0003234 optic nerve astrocytoma MONDO:0024649 NCIT:C6769 NCIT:C7533 optic tract astrocytoma MONDO:0003235 optic nerve glioma MONDO:0002640 NCIT:C4537 NCIT:C4801 optic nerve neoplasm MONDO:0003235 optic nerve glioma MONDO:0016167 NCIT:C4537 NCIT:C8567 optic pathway glioma MONDO:0003236 atypical polypoid adenomyoma MONDO:0005635 NCIT:C6895 NCIT:C3726 adenomyoma MONDO:0003237 adenomyoma of uterine corpus MONDO:0005635 NCIT:C6338 NCIT:C3726 adenomyoma MONDO:0003238 cervical adenomyoma MONDO:0005635 NCIT:C40231 NCIT:C3726 adenomyoma MONDO:0003241 central nervous system hemangioma MONDO:0006500 NCIT:C7004 NCIT:C3085 hemangioma MONDO:0003243 hepatocellular clear cell carcinoma MONDO:0005004 NCIT:C5754 NCIT:C3766 clear cell adenocarcinoma MONDO:0003243 hepatocellular clear cell carcinoma MONDO:0007256 NCIT:C5754 NCIT:C3099 hepatocellular carcinoma MONDO:0003244 central nervous system mesenchymal non-meningothelial tumor MONDO:0006424 NCIT:C5449 NCIT:C3377 soft tissue neoplasm MONDO:0003245 aflatoxin-related hepatocellular carcinoma MONDO:0007256 NCIT:C27922 NCIT:C3099 hepatocellular carcinoma MONDO:0003246 sclerosing hepatic carcinoma MONDO:0007256 NCIT:C27388 NCIT:C3099 hepatocellular carcinoma MONDO:0003248 adult pineal parenchymal tumor MONDO:0024890 NCIT:C8273 NCIT:C6965 pineal parenchymal cell neoplasm MONDO:0003249 pineal gland cancer MONDO:0021232 NCIT:C3573 NCIT:C3328 pineal body neoplasm MONDO:0003250 benign granular cell tumor MONDO:0006235 NCIT:C3252 NCIT:C3474 granular cell tumor MONDO:0003251 esophageal granular cell tumor MONDO:0006235 NCIT:C5700 NCIT:C3474 granular cell tumor MONDO:0003251 esophageal granular cell tumor MONDO:0021355 NCIT:C5700 NCIT:C3028 neoplasm of esophagus MONDO:0003252 granular cell cancer MONDO:0006235 NCIT:C4336 NCIT:C3474 granular cell tumor MONDO:0003252 granular cell cancer MONDO:0021089 NCIT:C4336 NCIT:C4961 peripheral nervous system cancer MONDO:0003253 vulvar granular cell tumor MONDO:0006235 NCIT:C40328 NCIT:C3474 granular cell tumor MONDO:0003253 vulvar granular cell tumor MONDO:0021049 NCIT:C40328 NCIT:C3443 vulvar neoplasm MONDO:0003255 mediastinal granular cell myoblastoma MONDO:0006235 NCIT:C6601 NCIT:C3474 granular cell tumor MONDO:0003255 mediastinal granular cell myoblastoma MONDO:0021386 NCIT:C6601 NCIT:C3221 neoplasm of mediastinum MONDO:0003256 neurohypophysis granular cell tumor MONDO:0003257 NCIT:C7017 NCIT:C7157 posterior pituitary gland neoplasm MONDO:0003256 neurohypophysis granular cell tumor MONDO:0006235 NCIT:C7017 NCIT:C3474 granular cell tumor MONDO:0003257 posterior pituitary gland neoplasm MONDO:0017611 NCIT:C7157 NCIT:C3330 pituitary tumor MONDO:0003258 hobnail hemangioma MONDO:0006500 NCIT:C27506 NCIT:C3085 hemangioma MONDO:0003260 adult cerebellar neoplasm MONDO:0002913 NCIT:C5968 NCIT:C2935 cerebellar neoplasm MONDO:0003261 papillary meningioma of the cerebellum MONDO:0021088 NCIT:C5270 NCIT:C3904 papillary meningioma MONDO:0003263 childhood cerebellar neoplasm MONDO:0002913 NCIT:C5970 NCIT:C2935 cerebellar neoplasm MONDO:0003263 childhood cerebellar neoplasm MONDO:0002915 NCIT:C5970 NCIT:C5802 childhood infratentorial neoplasm MONDO:0003264 basosquamous carcinoma MONDO:0005341 NCIT:C2922 NCIT:C2921 skin basal cell carcinoma MONDO:0003266 ependymal tumor MONDO:0021042 NCIT:C6770 NCIT:C3059 glioma MONDO:0003268 mixed glioma MONDO:0021043 NCIT:C3903 NCIT:C6930 mixed neoplasm MONDO:0003273 sternum cancer MONDO:0021578 NCIT:C8408 NCIT:C6730 sternal neoplasm MONDO:0003274 thoracic cancer MONDO:0004992 NCIT:C3576 NCIT:C9305 cancer MONDO:0003274 thoracic cancer MONDO:0021350 NCIT:C3576 NCIT:C3406 neoplasm of thorax MONDO:0003275 middle ear cancer MONDO:0003277 NCIT:C4765 NCIT:C9337 malignant ear neoplasm MONDO:0003275 middle ear cancer MONDO:0021366 NCIT:C4765 NCIT:C4412 neoplasm of middle ear MONDO:0003277 malignant ear neoplasm MONDO:0005627 NCIT:C9337 NCIT:C4013 head and neck cancer MONDO:0003277 malignant ear neoplasm MONDO:0021233 NCIT:C9337 NCIT:C3000 ear neoplasm MONDO:0003281 ovarian cystic teratoma MONDO:0002379 NCIT:C7283 NCIT:C9014 cystic teratoma MONDO:0003284 mediastinum leiomyoma MONDO:0001572 NCIT:C6598 NCIT:C3157 leiomyoma MONDO:0003285 fallopian tube leiomyoma MONDO:0000645 NCIT:C40127 NCIT:C4517 fallopian tube benign neoplasm MONDO:0003285 fallopian tube leiomyoma MONDO:0001572 NCIT:C40127 NCIT:C3157 leiomyoma MONDO:0003287 central nervous system leiomyoma MONDO:0001572 NCIT:C6998 NCIT:C3157 leiomyoma MONDO:0003288 bizarre leiomyoma MONDO:0001572 NCIT:C4257 NCIT:C3157 leiomyoma MONDO:0003289 deep leiomyoma MONDO:0001572 NCIT:C6512 NCIT:C3157 leiomyoma MONDO:0003291 leiomyoma cutis MONDO:0001572 NCIT:C4482 NCIT:C3157 leiomyoma MONDO:0003292 anus leiomyoma MONDO:0021469 NCIT:C5608 NCIT:C4611 benign neoplasm of anus MONDO:0003293 lung leiomyoma MONDO:0001572 NCIT:C5660 NCIT:C3157 leiomyoma MONDO:0003293 lung leiomyoma MONDO:0002732 NCIT:C5660 NCIT:C4454 lung benign neoplasm MONDO:0003294 pericardium leiomyoma MONDO:0001572 NCIT:C6743 NCIT:C3157 leiomyoma MONDO:0003294 pericardium leiomyoma MONDO:0021514 NCIT:C6743 NCIT:C8536 benign neoplasm of pericardium MONDO:0003295 leiomyomatosis MONDO:0001572 NCIT:C3748 NCIT:C3157 leiomyoma MONDO:0003296 cellular leiomyoma MONDO:0001572 NCIT:C4256 NCIT:C3157 leiomyoma MONDO:0003298 vulvar leiomyoma MONDO:0000643 NCIT:C40326 NCIT:C3611 vulvar benign neoplasm MONDO:0003298 vulvar leiomyoma MONDO:0001572 NCIT:C40326 NCIT:C3157 leiomyoma MONDO:0003299 colorectal leiomyoma MONDO:0021444 NCIT:C5677 NCIT:C4610 benign neoplasm of large intestine MONDO:0003300 appendix leiomyoma MONDO:0021465 NCIT:C5514 NCIT:C4773 benign neoplasm of appendix MONDO:0003301 dartoic leiomyoma MONDO:0003291 NCIT:C4483 NCIT:C4482 leiomyoma cutis MONDO:0003302 epithelioid neurofibroma MONDO:0016755 NCIT:C6558 NCIT:C3272 neurofibroma MONDO:0003303 neurofibroma of gallbladder MONDO:0016755 NCIT:C5746 NCIT:C3272 neurofibroma MONDO:0003304 plexiform neurofibroma MONDO:0016755 NCIT:C3797 NCIT:C3272 neurofibroma MONDO:0003305 cellular neurofibroma MONDO:0016755 NCIT:C41427 NCIT:C3272 neurofibroma MONDO:0003306 atypical neurofibroma MONDO:0016755 NCIT:C41426 NCIT:C3272 neurofibroma MONDO:0003308 pleural mesothelioma MONDO:0021065 NCIT:C9351 NCIT:C3332 pleural neoplasm MONDO:0003312 ovarian endometrioid stromal and related neoplasms MONDO:0037742 NCIT:C40065 NCIT:C8384 endometrioid stromal and related neoplasms MONDO:0003314 endometrioid stromal and related neoplasms of the vagina MONDO:0037742 NCIT:C40269 NCIT:C8384 endometrioid stromal and related neoplasms MONDO:0003316 nonanaplastic kidney Wilms tumor MONDO:0019004 NCIT:C6951 NCIT:C40407 kidney Wilms tumor MONDO:0003317 metachronous kidney Wilms' tumor MONDO:0019004 NCIT:C38158 NCIT:C40407 kidney Wilms tumor MONDO:0003318 mixed cell type kidney Wilms' tumor MONDO:0019004 NCIT:C9149 NCIT:C40407 kidney Wilms tumor MONDO:0003320 blastema predominant kidney Wilms tumor MONDO:0019004 NCIT:C9147 NCIT:C40407 kidney Wilms tumor MONDO:0003321 hereditary Wilms tumor MONDO:0019004 NCIT:C8496 NCIT:C40407 kidney Wilms tumor MONDO:0003322 epithelial predominant Wilms' tumor MONDO:0019004 NCIT:C9146 NCIT:C40407 kidney Wilms tumor MONDO:0003325 nodular ganglioneuroblastoma MONDO:0005035 NCIT:C42058 NCIT:C3790 ganglioneuroblastoma MONDO:0003326 intermixed schwannian stroma-rich ganglioneuroblastoma MONDO:0005035 NCIT:C42057 NCIT:C3790 ganglioneuroblastoma MONDO:0003327 peripheral ganglioneuroblastoma MONDO:0005035 NCIT:C6594 NCIT:C3790 ganglioneuroblastoma MONDO:0003328 fallopian tube adenomatoid tumor MONDO:0000645 NCIT:C40129 NCIT:C4517 fallopian tube benign neoplasm MONDO:0003328 fallopian tube adenomatoid tumor MONDO:0004230 NCIT:C40129 NCIT:C3762 adenomatoid tumor MONDO:0003331 ovarian monodermal teratoma MONDO:0005602 NCIT:C7286 NCIT:C8110 ovarian teratoma MONDO:0003332 malignant struma ovarii MONDO:0006444 NCIT:C4291 NCIT:C4289 teratoma with malignant transformation MONDO:0003340 malignant glomus tumor MONDO:0018327 NCIT:C4221 NCIT:C3060 glomus tumor MONDO:0003341 subungual glomus tumor MONDO:0002295 NCIT:C36079 NCIT:C4491 skin glomus tumor MONDO:0003342 benign perivascular tumor MONDO:0002604 NCIT:C6529 NCIT:C6528 pericytic neoplasm MONDO:0003343 retinal hemangioblastoma MONDO:0016748 NCIT:C39783 NCIT:C3801 hemangioblastoma MONDO:0003347 inflammatory leiomyosarcoma MONDO:0005058 NCIT:C27495 NCIT:C3158 leiomyosarcoma MONDO:0003348 conventional leiomyosarcoma MONDO:0005058 NCIT:C9428 NCIT:C3158 leiomyosarcoma MONDO:0003349 central nervous system leiomyosarcoma MONDO:0002217 NCIT:C6999 NCIT:C5153 central nervous system sarcoma MONDO:0003349 central nervous system leiomyosarcoma MONDO:0005058 NCIT:C6999 NCIT:C3158 leiomyosarcoma MONDO:0003351 colon leiomyosarcoma MONDO:0003352 NCIT:C5494 NCIT:C5495 colon sarcoma MONDO:0003352 colon sarcoma MONDO:0021063 NCIT:C5495 NCIT:C9242 malignant colon neoplasm MONDO:0003353 heart leiomyosarcoma MONDO:0003354 NCIT:C5364 NCIT:C7723 heart sarcoma MONDO:0003353 heart leiomyosarcoma MONDO:0005058 NCIT:C5364 NCIT:C3158 leiomyosarcoma MONDO:0003354 heart sarcoma MONDO:0001340 NCIT:C7723 NCIT:C3548 heart cancer MONDO:0003354 heart sarcoma MONDO:0018078 NCIT:C7723 NCIT:C9306 soft tissue sarcoma MONDO:0003355 ovary leiomyosarcoma MONDO:0002225 NCIT:C5234 NCIT:C8267 ovarian sarcoma MONDO:0003355 ovary leiomyosarcoma MONDO:0005058 NCIT:C5234 NCIT:C3158 leiomyosarcoma MONDO:0003356 epithelioid leiomyosarcoma MONDO:0005058 NCIT:C3700 NCIT:C3158 leiomyosarcoma MONDO:0003357 lung leiomyosarcoma MONDO:0002426 NCIT:C5667 NCIT:C4860 lung sarcoma MONDO:0003357 lung leiomyosarcoma MONDO:0005058 NCIT:C5667 NCIT:C3158 leiomyosarcoma MONDO:0003358 anus leiomyosarcoma MONDO:0002865 NCIT:C5599 NCIT:C5611 anus sarcoma MONDO:0003359 myxoid leiomyosarcoma MONDO:0005058 NCIT:C3701 NCIT:C3158 leiomyosarcoma MONDO:0003360 small intestine leiomyosarcoma MONDO:0003361 NCIT:C7085 NCIT:C5335 small intestinal sarcoma MONDO:0003361 small intestinal sarcoma MONDO:0000956 NCIT:C5335 NCIT:C7523 small intestine cancer MONDO:0003363 malignant dermis tumor MONDO:0002300 NCIT:C4574 NCIT:C4475 dermis tumor MONDO:0003363 malignant dermis tumor MONDO:0002898 NCIT:C4574 NCIT:C2920 skin cancer MONDO:0003364 gallbladder leiomyosarcoma MONDO:0002857 NCIT:C5841 NCIT:C5736 gallbladder sarcoma MONDO:0003365 esophagus leiomyosarcoma MONDO:0001204 NCIT:C5334 NCIT:C5341 esophagus sarcoma MONDO:0003368 prostate leiomyosarcoma MONDO:0002854 NCIT:C5526 NCIT:C7731 prostate sarcoma MONDO:0003368 prostate leiomyosarcoma MONDO:0005058 NCIT:C5526 NCIT:C3158 leiomyosarcoma MONDO:0003369 vagina leiomyosarcoma MONDO:0002140 NCIT:C6326 NCIT:C7737 vagina sarcoma MONDO:0003369 vagina leiomyosarcoma MONDO:0005058 NCIT:C6326 NCIT:C3158 leiomyosarcoma MONDO:0003370 retroperitoneal leiomyosarcoma MONDO:0001501 NCIT:C27904 NCIT:C4832 retroperitoneal sarcoma MONDO:0003371 breast leiomyosarcoma MONDO:0002490 NCIT:C5186 NCIT:C4670 breast sarcoma MONDO:0003371 breast leiomyosarcoma MONDO:0005058 NCIT:C5186 NCIT:C3158 leiomyosarcoma MONDO:0003372 vulvar leiomyosarcoma MONDO:0005058 NCIT:C40318 NCIT:C3158 leiomyosarcoma MONDO:0003372 vulvar leiomyosarcoma MONDO:0005214 NCIT:C40318 NCIT:C40317 vulva sarcoma MONDO:0003373 kidney leiomyosarcoma MONDO:0002930 NCIT:C6183 NCIT:C4525 kidney sarcoma MONDO:0003373 kidney leiomyosarcoma MONDO:0005058 NCIT:C6183 NCIT:C3158 leiomyosarcoma MONDO:0003376 mediastinum leiomyosarcoma MONDO:0002852 NCIT:C6619 NCIT:C6606 mediastinum sarcoma MONDO:0003376 mediastinum leiomyosarcoma MONDO:0005058 NCIT:C6619 NCIT:C3158 leiomyosarcoma MONDO:0003377 extrahepatic bile duct leiomyosarcoma MONDO:0024658 NCIT:C5848 NCIT:C5029 extrahepatic bile duct sarcoma MONDO:0003378 liver leiomyosarcoma MONDO:0002397 NCIT:C5756 NCIT:C4437 liver sarcoma MONDO:0003379 rectum leiomyosarcoma MONDO:0002168 NCIT:C5549 NCIT:C5548 rectum sarcoma MONDO:0003383 fallopian tube clear cell adenocarcinoma MONDO:0002746 NCIT:C6280 NCIT:C6265 fallopian tube adenocarcinoma MONDO:0003383 fallopian tube clear cell adenocarcinoma MONDO:0005004 NCIT:C6280 NCIT:C3766 clear cell adenocarcinoma MONDO:0003384 uterine ligament clear cell adenocarcinoma MONDO:0002741 NCIT:C40139 NCIT:C40135 uterine ligament adenocarcinoma MONDO:0003387 urethra clear cell adenocarcinoma MONDO:0003200 NCIT:C6172 NCIT:C6167 urethra adenocarcinoma MONDO:0003388 ampulla of vater clear cell adenocarcinoma MONDO:0002670 NCIT:C27414 NCIT:C6650 ampulla of vater adenocarcinoma MONDO:0003389 epithelial-myoepithelial carcinoma MONDO:0004993 NCIT:C4199 NCIT:C2916 carcinoma MONDO:0003390 glycogen-rich clear cell breast carcinoma MONDO:0004953 NCIT:C40368 NCIT:C4194 invasive ductal breast carcinoma MONDO:0003390 glycogen-rich clear cell breast carcinoma MONDO:0005004 NCIT:C40368 NCIT:C3766 clear cell adenocarcinoma MONDO:0003390 glycogen-rich clear cell breast carcinoma MONDO:0045055 NCIT:C40368 NCIT:C4153 glycogen-rich carcinoma MONDO:0003391 vulvar alveolar soft part sarcoma MONDO:0005214 NCIT:C40320 NCIT:C40317 vulva sarcoma MONDO:0003391 vulvar alveolar soft part sarcoma MONDO:0011655 NCIT:C40320 NCIT:C3750 alveolar soft part sarcoma MONDO:0003392 fallopian tube germ cell tumor MONDO:0005040 NCIT:C40130 NCIT:C3708 germ cell tumor MONDO:0003392 fallopian tube germ cell tumor MONDO:0021092 NCIT:C40130 NCIT:C3032 fallopian tube neoplasm MONDO:0003395 testicular granulosa cell tumor MONDO:0003125 NCIT:C6357 NCIT:C6358 testicular sex cord-stromal neoplasm MONDO:0003395 testicular granulosa cell tumor MONDO:0006036 NCIT:C6357 NCIT:C3070 granulosa cell tumor MONDO:0003399 pineal region yolk sac tumor MONDO:0002073 NCIT:C6752 NCIT:C6767 malignant pineal area germ cell neoplasm MONDO:0003400 childhood endodermal sinus tumor MONDO:0004479 NCIT:C27364 NCIT:C6541 malignant childhood germ cell neoplasm MONDO:0003400 childhood endodermal sinus tumor MONDO:0005744 NCIT:C27364 NCIT:C3011 yolk sac tumor MONDO:0003401 central nervous system endodermal sinus tumor MONDO:0003400 NCIT:C6209 NCIT:C27364 childhood endodermal sinus tumor MONDO:0003401 central nervous system endodermal sinus tumor MONDO:0003750 NCIT:C6209 NCIT:C6205 childhood central nervous system germ cell tumor MONDO:0003401 central nervous system endodermal sinus tumor MONDO:0016739 NCIT:C6209 NCIT:C7011 yolk sac tumor of central nervous system MONDO:0003402 testicular yolk sac tumor MONDO:0002874 NCIT:C8000 NCIT:C39915 testicular pure germ cell tumor MONDO:0003402 testicular yolk sac tumor MONDO:0003403 NCIT:C8000 NCIT:C5027 testicular non-seminomatous germ cell cancer MONDO:0003402 testicular yolk sac tumor MONDO:0005744 NCIT:C8000 NCIT:C3011 yolk sac tumor MONDO:0003403 testicular non-seminomatous germ cell cancer MONDO:0003510 NCIT:C5027 NCIT:C9063 malignant testicular germ cell tumor MONDO:0003403 testicular non-seminomatous germ cell cancer MONDO:0006447 NCIT:C5027 NCIT:C9313 testicular non-seminomatous germ cell tumor MONDO:0003404 adult yolk sac tumor MONDO:0005744 NCIT:C27241 NCIT:C3011 yolk sac tumor MONDO:0003404 adult yolk sac tumor MONDO:0044878 NCIT:C27241 NCIT:C114777 adult germ cell tumor MONDO:0003405 adult central nervous system germ cell tumor MONDO:0003000 NCIT:C6285 NCIT:C5461 central nervous system germ cell tumor MONDO:0003405 adult central nervous system germ cell tumor MONDO:0044878 NCIT:C6285 NCIT:C114777 adult germ cell tumor MONDO:0003408 ovarian primitive germ cell tumor MONDO:0018171 NCIT:C39986 NCIT:C4514 malignant germ cell tumor of ovary MONDO:0003410 Wolffian duct adenocarcinoma MONDO:0005613 NCIT:C40254 NCIT:C4072 mesonephric adenocarcinoma MONDO:0003411 breast hemangiopericytoma MONDO:0005094 NCIT:C40396 NCIT:C3087 hemangiopericytoma MONDO:0003412 retroperitoneal hemangiopericytoma MONDO:0005094 NCIT:C5386 NCIT:C3087 hemangiopericytoma MONDO:0003413 hair follicle neoplasm MONDO:0002297 NCIT:C7367 NCIT:C4463 epidermal appendage tumor MONDO:0003413 hair follicle neoplasm MONDO:0002917 NCIT:C7367 NCIT:C34656 disorder of pilosebaceous unit MONDO:0003414 skin pilomatrix carcinoma MONDO:0006973 NCIT:C4114 NCIT:C3775 skin appendage carcinoma MONDO:0003419 Bartholin gland adenoma MONDO:0002198 NCIT:C40299 NCIT:C40292 vulvar glandular neoplasm MONDO:0003419 Bartholin gland adenoma MONDO:0004972 NCIT:C40299 NCIT:C2855 adenoma MONDO:0003419 Bartholin gland adenoma MONDO:0036976 NCIT:C40299 NCIT:C4092 benign epithelial neoplasm MONDO:0003421 mixed cell adenoma MONDO:0004972 NCIT:C4157 NCIT:C2855 adenoma MONDO:0003421 mixed cell adenoma MONDO:0021043 NCIT:C4157 NCIT:C6930 mixed neoplasm MONDO:0003422 lung adenoma MONDO:0002732 NCIT:C4455 NCIT:C4454 lung benign neoplasm MONDO:0003422 lung adenoma MONDO:0004972 NCIT:C4455 NCIT:C2855 adenoma MONDO:0003422 lung adenoma MONDO:0036976 NCIT:C4455 NCIT:C4092 benign epithelial neoplasm MONDO:0003424 oncocytic adenoma MONDO:0004972 NCIT:C3759 NCIT:C2855 adenoma MONDO:0003424 oncocytic adenoma MONDO:0010795 NCIT:C3759 NCIT:C7072 oncocytic neoplasm MONDO:0003426 clear cell adenoma MONDO:0004972 NCIT:C4151 NCIT:C2855 adenoma MONDO:0003427 bronchus adenoma MONDO:0002533 NCIT:C3494 NCIT:C79951 papillary adenoma MONDO:0003427 bronchus adenoma MONDO:0003422 NCIT:C3494 NCIT:C4455 lung adenoma MONDO:0003428 brain hemangioma MONDO:0002328 NCIT:C7739 NCIT:C3633 intracranial hemangioma MONDO:0003429 functioning pituitary gland adenoma MONDO:0006373 NCIT:C8388 NCIT:C3329 pituitary gland adenoma MONDO:0003431 lipoadenoma MONDO:0004972 NCIT:C4159 NCIT:C2855 adenoma MONDO:0003434 vaginal adenoma MONDO:0001704 NCIT:C40256 NCIT:C40250 vaginal glandular neoplasm MONDO:0003434 vaginal adenoma MONDO:0004972 NCIT:C40256 NCIT:C2855 adenoma MONDO:0003435 microcystic adenoma MONDO:0004972 NCIT:C3685 NCIT:C2855 adenoma MONDO:0003437 occult small cell lung carcinoma MONDO:0008433 NCIT:C6683 NCIT:C4917 small cell lung carcinoma MONDO:0003438 combined small cell lung carcinoma MONDO:0006167 NCIT:C9137 NCIT:C7591 combined lung carcinoma MONDO:0003438 combined small cell lung carcinoma MONDO:0008433 NCIT:C9137 NCIT:C4917 small cell lung carcinoma MONDO:0003442 bladder papillary urothelial neoplasm MONDO:0003443 NCIT:C39857 NCIT:C27883 papillary urothelial neoplasm MONDO:0003442 bladder papillary urothelial neoplasm MONDO:0004987 NCIT:C39857 NCIT:C2901 urinary bladder neoplasm MONDO:0003443 papillary urothelial neoplasm MONDO:0021096 NCIT:C27883 NCIT:C8429 papillary epithelial neoplasm MONDO:0003443 papillary urothelial neoplasm MONDO:0024337 NCIT:C27883 NCIT:C39852 urothelial neoplasm MONDO:0003444 intrahepatic bile duct adenoma MONDO:0006108 NCIT:C7126 NCIT:C2942 bile duct adenoma MONDO:0003445 extrahepatic bile duct adenoma MONDO:0006108 NCIT:C5857 NCIT:C2942 bile duct adenoma MONDO:0003447 clear cell hidradenoma MONDO:0002805 NCIT:C7567 NCIT:C7563 hidradenoma MONDO:0003447 clear cell hidradenoma MONDO:0003426 NCIT:C7567 NCIT:C4151 clear cell adenoma MONDO:0003448 benign spiradenoma MONDO:0021489 NCIT:C4170 NCIT:C4879 benign neoplasm of sweat gland MONDO:0003453 conjunctival intraepithelial neoplasm MONDO:0024475 NCIT:C6120 NCIT:C8334 squamous cell intraepithelial neoplasia MONDO:0003454 conjunctival cancer MONDO:0002236 NCIT:C3564 NCIT:C4767 ocular cancer MONDO:0003454 conjunctival cancer MONDO:0020204 NCIT:C3564 NCIT:C2961 conjunctival tumor MONDO:0003455 bile duct papillary neoplasm MONDO:0021662 NCIT:C6881 NCIT:C2898 bile duct neoplasm MONDO:0003458 uterine corpus adenofibroma MONDO:0006071 NCIT:C6337 NCIT:C8984 adenofibroma MONDO:0003460 clear cell adenofibroma MONDO:0006071 NCIT:C8987 NCIT:C8984 adenofibroma MONDO:0003461 fallopian tube serous adenofibroma MONDO:0000645 NCIT:C40113 NCIT:C4517 fallopian tube benign neoplasm MONDO:0003461 fallopian tube serous adenofibroma MONDO:0024886 NCIT:C40113 NCIT:C67090 serous adenofibroma MONDO:0003462 papillary adenofibroma MONDO:0006071 NCIT:C8986 NCIT:C8984 adenofibroma MONDO:0003464 cystadenofibroma MONDO:0006071 NCIT:C8985 NCIT:C8984 adenofibroma MONDO:0003466 spindle cell synovial sarcoma MONDO:0005067 NCIT:C4277 NCIT:C6534 monophasic synovial sarcoma MONDO:0003467 mediastinum synovial sarcoma MONDO:0002852 NCIT:C6618 NCIT:C6606 mediastinum sarcoma MONDO:0003467 mediastinum synovial sarcoma MONDO:0010434 NCIT:C6618 NCIT:C3400 synovial sarcoma MONDO:0003468 biphasic synovial sarcoma MONDO:0010434 NCIT:C4279 NCIT:C3400 synovial sarcoma MONDO:0003469 epithelioid cell synovial sarcoma MONDO:0005067 NCIT:C4278 NCIT:C6534 monophasic synovial sarcoma MONDO:0003470 cellular ependymoma MONDO:0016698 NCIT:C4713 NCIT:C3017 ependymoma MONDO:0003473 spinal cord ependymoma MONDO:0016698 NCIT:C3875 NCIT:C3017 ependymoma MONDO:0003474 tanycytic ependymoma MONDO:0016698 NCIT:C6903 NCIT:C3017 ependymoma MONDO:0003475 papillary ependymoma MONDO:0016698 NCIT:C4319 NCIT:C3017 ependymoma MONDO:0003476 clear cell ependymoma MONDO:0016698 NCIT:C4714 NCIT:C3017 ependymoma MONDO:0003477 brain stem ependymoma MONDO:0002911 NCIT:C5098 NCIT:C8501 brain stem glioma MONDO:0003478 childhood ependymoma MONDO:0016698 NCIT:C8578 NCIT:C3017 ependymoma MONDO:0003481 dysgerminoma of ovary MONDO:0003408 NCIT:C8106 NCIT:C39986 ovarian primitive germ cell tumor MONDO:0003486 basaloid squamous cell carcinoma MONDO:0005096 NCIT:C54244 NCIT:C2929 squamous cell carcinoma MONDO:0003486 basaloid squamous cell carcinoma MONDO:0006102 NCIT:C54244 NCIT:C4121 basaloid carcinoma MONDO:0003487 pseudoglandular squamous cell carcinoma MONDO:0005096 NCIT:C4106 NCIT:C2929 squamous cell carcinoma MONDO:0003490 ampulla of vater squamous cell carcinoma MONDO:0017590 NCIT:C27417 NCIT:C3908 carcinoma of the ampulla of vater MONDO:0003493 thymus squamous cell carcinoma MONDO:0005096 NCIT:C6455 NCIT:C2929 squamous cell carcinoma MONDO:0003493 thymus squamous cell carcinoma MONDO:0006451 NCIT:C6455 NCIT:C7569 thymic carcinoma MONDO:0003494 ovarian squamous cell carcinoma MONDO:0005096 NCIT:C40093 NCIT:C2929 squamous cell carcinoma MONDO:0003494 ovarian squamous cell carcinoma MONDO:0005140 NCIT:C40093 NCIT:C4908 ovarian carcinoma MONDO:0003497 renal pelvis squamous cell carcinoma MONDO:0005096 NCIT:C7732 NCIT:C2929 squamous cell carcinoma MONDO:0003497 renal pelvis squamous cell carcinoma MONDO:0005519 NCIT:C7732 NCIT:C6142 renal pelvis carcinoma MONDO:0003499 sarcomatoid squamous cell skin carcinoma MONDO:0002529 NCIT:C4666 NCIT:C4819 skin squamous cell carcinoma MONDO:0003501 external ear squamous cell carcinoma MONDO:0002944 NCIT:C6083 NCIT:C6081 external ear carcinoma MONDO:0003502 ureter squamous cell carcinoma MONDO:0005096 NCIT:C6154 NCIT:C2929 squamous cell carcinoma MONDO:0003502 ureter squamous cell carcinoma MONDO:0006481 NCIT:C6154 NCIT:C8993 ureter carcinoma MONDO:0003503 fallopian tube squamous cell carcinoma MONDO:0005096 NCIT:C6282 NCIT:C2929 squamous cell carcinoma MONDO:0003503 fallopian tube squamous cell carcinoma MONDO:0006206 NCIT:C6282 NCIT:C3867 fallopian tube carcinoma MONDO:0003506 pulmonary artery choriocarcinoma MONDO:0005207 NCIT:C5381 NCIT:C2948 choriocarcinoma MONDO:0003506 pulmonary artery choriocarcinoma MONDO:0006290 NCIT:C5381 NCIT:C4925 malignant germ cell tumor MONDO:0003507 choriocarcinoma of ovary MONDO:0005207 NCIT:C4515 NCIT:C2948 choriocarcinoma MONDO:0003508 choriocarcinoma of testis MONDO:0002871 NCIT:C7733 NCIT:C39934 testicular trophoblastic tumor MONDO:0003508 choriocarcinoma of testis MONDO:0003403 NCIT:C7733 NCIT:C5027 testicular non-seminomatous germ cell cancer MONDO:0003508 choriocarcinoma of testis MONDO:0005207 NCIT:C7733 NCIT:C2948 choriocarcinoma MONDO:0003509 pineal region choriocarcinoma MONDO:0002073 NCIT:C6759 NCIT:C6767 malignant pineal area germ cell neoplasm MONDO:0003509 pineal region choriocarcinoma MONDO:0016740 NCIT:C6759 NCIT:C7012 choriocarcinoma of the central nervous system MONDO:0003510 malignant testicular germ cell tumor MONDO:0005447 NCIT:C9063 NCIT:C7251 testicular cancer MONDO:0003510 malignant testicular germ cell tumor MONDO:0006290 NCIT:C9063 NCIT:C4925 malignant germ cell tumor MONDO:0003510 malignant testicular germ cell tumor MONDO:0010108 NCIT:C9063 NCIT:C8591 testicular germ cell tumor MONDO:0003512 mediastinal mesenchymal tumor MONDO:0006424 NCIT:C6637 NCIT:C3377 soft tissue neoplasm MONDO:0003512 mediastinal mesenchymal tumor MONDO:0021386 NCIT:C6637 NCIT:C3221 neoplasm of mediastinum MONDO:0003514 malignant teratoma MONDO:0002601 NCIT:C4287 NCIT:C3403 teratoma MONDO:0003514 malignant teratoma MONDO:0006290 NCIT:C4287 NCIT:C4925 malignant germ cell tumor MONDO:0003515 fallopian tube teratoma MONDO:0003392 NCIT:C40131 NCIT:C40130 fallopian tube germ cell tumor MONDO:0003516 adult teratoma MONDO:0002601 NCIT:C9013 NCIT:C3403 teratoma MONDO:0003516 adult teratoma MONDO:0044878 NCIT:C9013 NCIT:C114777 adult germ cell tumor MONDO:0003518 mediastinum teratoma MONDO:0021067 NCIT:C6438 NCIT:C6437 mediastinal germ cell tumor MONDO:0003523 gastrin-producing neuroendocrine tumor MONDO:0000386 NCIT:C3050 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0003524 gastric gastrin-producing neuroendocrine tumor MONDO:0003523 NCIT:C27444 NCIT:C3050 gastrin-producing neuroendocrine tumor MONDO:0003524 gastric gastrin-producing neuroendocrine tumor MONDO:0015062 NCIT:C27444 NCIT:C95871 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor MONDO:0003523 NCIT:C9069 NCIT:C3050 gastrin-producing neuroendocrine tumor MONDO:0003525 pancreatic gastrin-producing neuroendocrine tumor MONDO:0019954 NCIT:C9069 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0003531 papillary eccrine carcinoma MONDO:0002512 NCIT:C27254 NCIT:C2853 papillary adenocarcinoma MONDO:0003531 papillary eccrine carcinoma MONDO:0024240 NCIT:C27254 NCIT:C27255 eccrine carcinoma MONDO:0003532 breast papillary carcinoma MONDO:0002512 NCIT:C9134 NCIT:C2853 papillary adenocarcinoma MONDO:0003534 papillary thymic adenocarcinoma MONDO:0002512 NCIT:C27937 NCIT:C2853 papillary adenocarcinoma MONDO:0003534 papillary thymic adenocarcinoma MONDO:0003209 NCIT:C27937 NCIT:C6459 thymus gland adenocarcinoma MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia MONDO:0003538 NCIT:C8694 NCIT:C7055 precursor lymphoblastic lymphoma/leukemia MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia MONDO:0024615 NCIT:C8694 NCIT:C27908 T-cell and NK-cell neoplasm MONDO:0003538 precursor lymphoblastic lymphoma/leukemia MONDO:0005157 NCIT:C7055 NCIT:C7065 lymphoid neoplasm MONDO:0003539 T-cell adult acute lymphocytic leukemia MONDO:0003541 NCIT:C9142 NCIT:C4967 adult acute lymphoblastic leukemia MONDO:0003541 adult acute lymphoblastic leukemia MONDO:0004967 NCIT:C4967 NCIT:C3167 acute lymphoblastic leukemia MONDO:0003544 spinal cord cancer MONDO:0002714 NCIT:C3572 NCIT:C4627 central nervous system cancer MONDO:0003544 spinal cord cancer MONDO:0021234 NCIT:C3572 NCIT:C3381 spinal cord neoplasm MONDO:0003548 adenosquamous breast carcinoma MONDO:0006074 NCIT:C40361 NCIT:C3727 adenosquamous carcinoma MONDO:0003550 esophageal adenosquamous carcinoma MONDO:0006074 NCIT:C27421 NCIT:C3727 adenosquamous carcinoma MONDO:0003551 thymic adenosquamous carcinoma MONDO:0006074 NCIT:C6458 NCIT:C3727 adenosquamous carcinoma MONDO:0003554 adenosquamous colon carcinoma MONDO:0006157 NCIT:C5491 NCIT:C43589 colorectal adenosquamous carcinoma MONDO:0003555 Bartholin gland adenosquamous carcinoma MONDO:0006074 NCIT:C40296 NCIT:C3727 adenosquamous carcinoma MONDO:0003556 endometrial adenosquamous carcinoma MONDO:0006074 NCIT:C114656 NCIT:C3727 adenosquamous carcinoma MONDO:0003557 optic nerve sheath meningioma MONDO:0002640 NCIT:C4538 NCIT:C4801 optic nerve neoplasm MONDO:0003558 adenosquamous prostate carcinoma MONDO:0006074 NCIT:C5538 NCIT:C3727 adenosquamous carcinoma MONDO:0003561 malignant giant cell tumor of soft parts MONDO:0002142 NCIT:C8380 NCIT:C4247 undifferentiated pleomorphic sarcoma MONDO:0003561 malignant giant cell tumor of soft parts MONDO:0002402 NCIT:C8380 NCIT:C4090 malignant giant cell tumor MONDO:0003570 lipid-rich carcinoma MONDO:0004993 NCIT:C4152 NCIT:C2916 carcinoma MONDO:0003572 nasopharyngeal type undifferentiated carcinoma MONDO:0005232 NCIT:C4107 NCIT:C3780 large cell carcinoma MONDO:0003573 pleomorphic carcinoma MONDO:0006406 NCIT:C4094 NCIT:C27004 sarcomatoid carcinoma MONDO:0003574 external ear cancer MONDO:0003277 NCIT:C4653 NCIT:C9337 malignant ear neoplasm MONDO:0003574 external ear cancer MONDO:0021235 NCIT:C4653 NCIT:C4652 external ear neoplasm MONDO:0003578 extragonadal nonseminomatous germ cell tumor MONDO:0003113 NCIT:C8885 NCIT:C8881 extragonadal germ cell cancer MONDO:0003581 ovarian embryonal carcinoma MONDO:0005440 NCIT:C8108 NCIT:C3752 embryonal carcinoma MONDO:0003581 ovarian embryonal carcinoma MONDO:0016096 NCIT:C8108 NCIT:C102870 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0003585 adult liposarcoma MONDO:0005060 NCIT:C7811 NCIT:C3194 liposarcoma MONDO:0003586 esophagus liposarcoma MONDO:0001204 NCIT:C5705 NCIT:C5341 esophagus sarcoma MONDO:0003586 esophagus liposarcoma MONDO:0005060 NCIT:C5705 NCIT:C3194 liposarcoma MONDO:0003587 pediatric liposarcoma MONDO:0005060 NCIT:C8091 NCIT:C3194 liposarcoma MONDO:0003589 liposarcoma of the ovary MONDO:0002225 NCIT:C6419 NCIT:C8267 ovarian sarcoma MONDO:0003589 liposarcoma of the ovary MONDO:0005060 NCIT:C6419 NCIT:C3194 liposarcoma MONDO:0003591 kidney liposarcoma MONDO:0002930 NCIT:C6185 NCIT:C4525 kidney sarcoma MONDO:0003591 kidney liposarcoma MONDO:0005060 NCIT:C6185 NCIT:C3194 liposarcoma MONDO:0003592 gastric liposarcoma MONDO:0005060 NCIT:C5488 NCIT:C3194 liposarcoma MONDO:0003593 breast liposarcoma MONDO:0002490 NCIT:C5187 NCIT:C4670 breast sarcoma MONDO:0003593 breast liposarcoma MONDO:0005060 NCIT:C5187 NCIT:C3194 liposarcoma MONDO:0003594 mixed liposarcoma MONDO:0005060 NCIT:C4253 NCIT:C3194 liposarcoma MONDO:0003599 vulvar liposarcoma MONDO:0005060 NCIT:C40321 NCIT:C3194 liposarcoma MONDO:0003599 vulvar liposarcoma MONDO:0005214 NCIT:C40321 NCIT:C40317 vulva sarcoma MONDO:0003600 cutaneous liposarcoma MONDO:0005060 NCIT:C5615 NCIT:C3194 liposarcoma MONDO:0003600 cutaneous liposarcoma MONDO:0006414 NCIT:C5615 NCIT:C5585 skin sarcoma MONDO:0003601 mediastinum liposarcoma MONDO:0002852 NCIT:C6614 NCIT:C6606 mediastinum sarcoma MONDO:0003601 mediastinum liposarcoma MONDO:0005060 NCIT:C6614 NCIT:C3194 liposarcoma MONDO:0003602 intracranial liposarcoma MONDO:0005060 NCIT:C6973 NCIT:C3194 liposarcoma MONDO:0003606 adrenal medulla cancer MONDO:0002817 NCIT:C4396 NCIT:C9338 adrenal gland cancer MONDO:0003606 adrenal medulla cancer MONDO:0021237 NCIT:C4396 NCIT:C4856 adrenal medulla neoplasm MONDO:0003609 seminal vesicle cystadenoma MONDO:0002369 NCIT:C39907 NCIT:C2972 cystadenoma MONDO:0003612 uterine ligament cancer MONDO:0021629 NCIT:C126498 NCIT:C40133 uterine ligament neoplasm MONDO:0003614 intravenous leiomyomatosis MONDO:0003295 NCIT:C4518 NCIT:C3748 leiomyomatosis MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor MONDO:0002995 NCIT:C27455 NCIT:C96061 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0003621 small intestinal vasoactive intestinal peptide producing tumor MONDO:0019960 NCIT:C27455 NCIT:C26749 VIPoma MONDO:0003622 pancreatic vasoactive intestinal peptide producing tumor MONDO:0019960 NCIT:C27454 NCIT:C26749 VIPoma MONDO:0003624 acinic cell breast carcinoma MONDO:0004965 NCIT:C40367 NCIT:C3768 acinar cell carcinoma MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0002810 NCIT:C5724 NCIT:C41248 pancreatic serous cystic neoplasm MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0002867 NCIT:C5724 NCIT:C3874 pancreatic cystadenocarcinoma MONDO:0003630 pancreatic serous cystadenocarcinoma MONDO:0024621 NCIT:C5724 NCIT:C3778 serous cystadenocarcinoma MONDO:0003631 cervical serous adenocarcinoma MONDO:0005278 NCIT:C40201 NCIT:C40101 serous adenocarcinoma MONDO:0003633 malignant mesenchymoma MONDO:0006854 NCIT:C4268 NCIT:C3233 mesenchymoma MONDO:0003635 sebaceous breast carcinoma MONDO:0006962 NCIT:C40369 NCIT:C40310 sebaceous adenocarcinoma MONDO:0003636 vulvar sebaceous carcinoma MONDO:0024336 NCIT:C40309 NCIT:C6380 vulvar adenocarcinoma MONDO:0003639 lung hilum neoplasm MONDO:0021117 NCIT:C5671 NCIT:C3200 lung neoplasm MONDO:0003641 central nervous system hematopoietic neoplasm MONDO:0006130 NCIT:C5503 NCIT:C9293 central nervous system neoplasm MONDO:0003641 central nervous system hematopoietic neoplasm MONDO:0044881 NCIT:C5503 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0003643 giant hemangioma MONDO:0003155 NCIT:C27777 NCIT:C3086 cavernous hemangioma MONDO:0003644 cavernous hemangioma of colon MONDO:0002278 NCIT:C5395 NCIT:C2894 benign colon neoplasm MONDO:0003644 cavernous hemangioma of colon MONDO:0003155 NCIT:C5395 NCIT:C3086 cavernous hemangioma MONDO:0003645 cavernous hemangioma of face MONDO:0003155 NCIT:C7053 NCIT:C3086 cavernous hemangioma MONDO:0003649 esophageal neuroendocrine tumor MONDO:0000386 NCIT:C95616 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0003650 mixed hepatoblastoma MONDO:0018666 NCIT:C7097 NCIT:C3728 hepatoblastoma MONDO:0003654 childhood parosteal osteosarcoma MONDO:0006817 NCIT:C6589 NCIT:C8969 juxtacortical osteosarcoma MONDO:0003655 cerebral lymphoma MONDO:0002571 NCIT:C7611 NCIT:C9301 primary central nervous system lymphoma MONDO:0003655 cerebral lymphoma MONDO:0002731 NCIT:C7611 NCIT:C4577 cerebral hemisphere cancer MONDO:0003659 pediatric lymphoma MONDO:0005062 NCIT:C5165 NCIT:C3208 lymphoma MONDO:0003659 pediatric lymphoma MONDO:0006517 NCIT:C5165 NCIT:C4005 childhood malignant neoplasm MONDO:0003660 adult lymphoma MONDO:0005062 NCIT:C7587 NCIT:C3208 lymphoma MONDO:0003661 breast lymphoma MONDO:0007254 NCIT:C4671 NCIT:C9335 breast cancer MONDO:0003663 uterine ligament endometrioid adenocarcinoma MONDO:0002741 NCIT:C40138 NCIT:C40135 uterine ligament adenocarcinoma MONDO:0003665 cervical endometrioid adenocarcinoma MONDO:0005026 NCIT:C6343 NCIT:C3769 endometrioid adenocarcinoma MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO:0002746 NCIT:C6279 NCIT:C6265 fallopian tube adenocarcinoma MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO:0005026 NCIT:C6279 NCIT:C3769 endometrioid adenocarcinoma MONDO:0003668 extragonadal seminoma MONDO:0003001 NCIT:C7327 NCIT:C9309 seminoma MONDO:0003668 extragonadal seminoma MONDO:0003113 NCIT:C7327 NCIT:C8881 extragonadal germ cell cancer MONDO:0003669 testicular seminoma MONDO:0002874 NCIT:C7328 NCIT:C39915 testicular pure germ cell tumor MONDO:0003669 testicular seminoma MONDO:0003001 NCIT:C7328 NCIT:C9309 seminoma MONDO:0003669 testicular seminoma MONDO:0003510 NCIT:C7328 NCIT:C9063 malignant testicular germ cell tumor MONDO:0003680 periosteal chondrosarcoma MONDO:0021054 NCIT:C7357 NCIT:C9312 bone sarcoma MONDO:0003682 localized chondrosarcoma MONDO:0008977 NCIT:C8778 NCIT:C2946 chondrosarcoma MONDO:0003684 clear cell chondrosarcoma MONDO:0021054 NCIT:C6475 NCIT:C9312 bone sarcoma MONDO:0003685 retroperitoneal germ cell neoplasm MONDO:0024645 NCIT:C6447 NCIT:C3357 retroperitoneal neoplasm MONDO:0003686 apocrine sweat gland neoplasm MONDO:0002381 NCIT:C6798 NCIT:C3398 sweat gland neoplasm MONDO:0003687 endocardium cancer MONDO:0001340 NCIT:C4570 NCIT:C3548 heart cancer MONDO:0003687 endocardium cancer MONDO:0021378 NCIT:C4570 NCIT:C5346 neoplasm of endocardium MONDO:0003690 adult anaplastic ependymoma MONDO:0016700 NCIT:C8269 NCIT:C4049 anaplastic ependymoma MONDO:0003691 childhood malignant mesenchymoma MONDO:0003633 NCIT:C8097 NCIT:C4268 malignant mesenchymoma MONDO:0003692 adult malignant mesenchymoma MONDO:0003633 NCIT:C7947 NCIT:C4268 malignant mesenchymoma MONDO:0003693 clear cell cystadenofibroma MONDO:0003460 NCIT:C8988 NCIT:C8987 clear cell adenofibroma MONDO:0003693 clear cell cystadenofibroma MONDO:0003464 NCIT:C8988 NCIT:C8985 cystadenofibroma MONDO:0003694 ovarian clear cell cystadenofibroma MONDO:0003693 NCIT:C40086 NCIT:C8988 clear cell cystadenofibroma MONDO:0003694 ovarian clear cell cystadenofibroma MONDO:0003695 NCIT:C40086 NCIT:C40085 ovarian clear cell adenofibroma MONDO:0003695 ovarian clear cell adenofibroma MONDO:0003460 NCIT:C40085 NCIT:C8987 clear cell adenofibroma MONDO:0003698 penis verrucous carcinoma MONDO:0004433 NCIT:C6982 NCIT:C6983 papillary carcinoma of the penis MONDO:0003698 penis verrucous carcinoma MONDO:0006006 NCIT:C6982 NCIT:C3781 verrucous carcinoma MONDO:0003700 brachial plexus neoplasm MONDO:0003100 NCIT:C5823 NCIT:C5822 nerve plexus neoplasm MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma MONDO:0005075 NCIT:C7427 NCIT:C4035 thyroid gland papillary carcinoma MONDO:0003702 uterus intravascular leiomyomatosis MONDO:0003614 NCIT:C5356 NCIT:C4518 intravenous leiomyomatosis MONDO:0003704 uterine corpus diffuse leiomyomatosis MONDO:0003295 NCIT:C40170 NCIT:C3748 leiomyomatosis MONDO:0003704 uterine corpus diffuse leiomyomatosis MONDO:0007886 NCIT:C40170 NCIT:C3434 uterine corpus leiomyoma MONDO:0003705 adult brainstem mixed glioma MONDO:0003153 NCIT:C9371 NCIT:C9091 adult brainstem glioma MONDO:0003706 adult brainstem astrocytoma MONDO:0002503 NCIT:C6954 NCIT:C7049 adult astrocytic tumor MONDO:0003706 adult brainstem astrocytoma MONDO:0003153 NCIT:C6954 NCIT:C9091 adult brainstem glioma MONDO:0003706 adult brainstem astrocytoma MONDO:0003173 NCIT:C6954 NCIT:C7445 brain stem astrocytic neoplasm MONDO:0003707 distal biliary tract carcinoma MONDO:0003090 NCIT:C7109 NCIT:C3860 extrahepatic bile duct carcinoma MONDO:0003710 ovarian mixed germ cell neoplasm MONDO:0003408 NCIT:C8114 NCIT:C39986 ovarian primitive germ cell tumor MONDO:0003710 ovarian mixed germ cell neoplasm MONDO:0015864 NCIT:C8114 NCIT:C4290 mixed germ cell tumor MONDO:0003714 bladder urachal squamous cell carcinoma MONDO:0002760 NCIT:C39845 NCIT:C4031 bladder squamous cell carcinoma MONDO:0003714 bladder urachal squamous cell carcinoma MONDO:0003715 NCIT:C39845 NCIT:C39842 bladder urachal carcinoma MONDO:0003715 bladder urachal carcinoma MONDO:0004986 NCIT:C39842 NCIT:C4912 urinary bladder carcinoma MONDO:0003716 renal pelvis papillary urothelial carcinoma MONDO:0003717 NCIT:C6148 NCIT:C8603 renal pelvis papillary tumor MONDO:0003716 renal pelvis papillary urothelial carcinoma MONDO:0005221 NCIT:C6148 NCIT:C7355 renal pelvis urothelial carcinoma MONDO:0003716 renal pelvis papillary urothelial carcinoma MONDO:0006350 NCIT:C6148 NCIT:C4122 papillary transitional cell carcinoma MONDO:0003717 renal pelvis papillary tumor MONDO:0003443 NCIT:C8603 NCIT:C27883 papillary urothelial neoplasm MONDO:0003717 renal pelvis papillary tumor MONDO:0003719 NCIT:C8603 NCIT:C8404 renal pelvis neoplasm MONDO:0003719 renal pelvis neoplasm MONDO:0021163 NCIT:C8404 NCIT:C3150 kidney neoplasm MONDO:0003720 kidney fibrosarcoma MONDO:0002930 NCIT:C7726 NCIT:C4525 kidney sarcoma MONDO:0003721 kidney osteogenic sarcoma MONDO:0002621 NCIT:C6181 NCIT:C8810 extraosseous osteosarcoma MONDO:0003721 kidney osteogenic sarcoma MONDO:0002930 NCIT:C6181 NCIT:C4525 kidney sarcoma MONDO:0003722 internal auditory canal meningioma MONDO:0003121 NCIT:C5307 NCIT:C5586 middle cranial fossa meningioma MONDO:0003728 breast fibrosarcoma MONDO:0002490 NCIT:C5185 NCIT:C4670 breast sarcoma MONDO:0003729 aleukemic leukemia cutis MONDO:0003730 NCIT:C4983 NCIT:C4982 aleukemic leukemia MONDO:0003730 aleukemic leukemia MONDO:0005059 NCIT:C4982 NCIT:C3161 leukemia MONDO:0003731 adult central nervous system teratoma MONDO:0002718 NCIT:C5794 NCIT:C5441 central nervous system teratoma MONDO:0003731 adult central nervous system teratoma MONDO:0003405 NCIT:C5794 NCIT:C6285 adult central nervous system germ cell tumor MONDO:0003731 adult central nervous system teratoma MONDO:0003516 NCIT:C5794 NCIT:C9013 adult teratoma MONDO:0003732 adult central nervous system mature teratoma MONDO:0003731 NCIT:C27400 NCIT:C5794 adult central nervous system teratoma MONDO:0003732 adult central nervous system mature teratoma MONDO:0003733 NCIT:C27400 NCIT:C7013 central nervous system mature teratoma MONDO:0003733 central nervous system mature teratoma MONDO:0002718 NCIT:C7013 NCIT:C5441 central nervous system teratoma MONDO:0003733 central nervous system mature teratoma MONDO:0003517 NCIT:C7013 NCIT:C9015 mature teratoma MONDO:0003734 adult central nervous system immature teratoma MONDO:0003731 NCIT:C27401 NCIT:C5794 adult central nervous system teratoma MONDO:0003734 adult central nervous system immature teratoma MONDO:0003735 NCIT:C27401 NCIT:C7014 central nervous system immature teratoma MONDO:0003735 central nervous system immature teratoma MONDO:0002718 NCIT:C7014 NCIT:C5441 central nervous system teratoma MONDO:0003737 malignant testicular Leydig cell tumor MONDO:0000377 NCIT:C39942 NCIT:C4213 malignant Leydig cell tumor MONDO:0003737 malignant testicular Leydig cell tumor MONDO:0003124 NCIT:C39942 NCIT:C6356 testicular Leydig cell tumor MONDO:0003741 juvenile type testicular granulosa cell tumor MONDO:0003395 NCIT:C39947 NCIT:C6357 testicular granulosa cell tumor MONDO:0003742 heart fibrosarcoma MONDO:0003354 NCIT:C5361 NCIT:C7723 heart sarcoma MONDO:0003744 spindle cell intraocular melanoma MONDO:0006427 NCIT:C7986 NCIT:C4237 spindle cell melanoma MONDO:0003744 spindle cell intraocular melanoma MONDO:0006486 NCIT:C7986 NCIT:C7712 uveal melanoma MONDO:0003745 choroid spindle cell melanoma MONDO:0003744 NCIT:C6099 NCIT:C7986 spindle cell intraocular melanoma MONDO:0003745 choroid spindle cell melanoma MONDO:0003878 NCIT:C6099 NCIT:C4561 malignant choroid melanoma MONDO:0003746 ciliary body spindle cell melanoma MONDO:0003912 NCIT:C6117 NCIT:C4558 malignant ciliary body melanoma MONDO:0003747 telangiectatic glomangioma MONDO:0002298 NCIT:C5345 NCIT:C6750 cutaneous glomangioma MONDO:0003750 childhood central nervous system germ cell tumor MONDO:0003000 NCIT:C6205 NCIT:C5461 central nervous system germ cell tumor MONDO:0003750 childhood central nervous system germ cell tumor MONDO:0003751 NCIT:C6205 NCIT:C7928 childhood germ cell tumor MONDO:0003751 childhood germ cell tumor MONDO:0005040 NCIT:C7928 NCIT:C3708 germ cell tumor MONDO:0003751 childhood germ cell tumor MONDO:0021079 NCIT:C7928 NCIT:C6283 childhood neoplasm MONDO:0003752 frontal sinus Schneiderian papilloma MONDO:0006353 NCIT:C6837 NCIT:C6835 paranasal sinus Schneiderian papilloma MONDO:0003752 frontal sinus Schneiderian papilloma MONDO:0021483 NCIT:C6837 NCIT:C4420 benign neoplasm of frontal sinus MONDO:0003753 nasal vestibule squamous papilloma MONDO:0001825 NCIT:C4369 NCIT:C3712 squamous papilloma MONDO:0003753 nasal vestibule squamous papilloma MONDO:0021475 NCIT:C4369 NCIT:C4603 benign neoplasm of nasal cavity MONDO:0003755 urinary tract non-invasive transitional cell neoplasm MONDO:0024337 NCIT:C39854 NCIT:C39852 urothelial neoplasm MONDO:0003756 ovarian mucinous neoplasm MONDO:0002229 NCIT:C5242 NCIT:C4381 ovarian epithelial tumor MONDO:0003758 childhood testicular germ cell tumor MONDO:0010108 NCIT:C6552 NCIT:C8591 testicular germ cell tumor MONDO:0003758 childhood testicular germ cell tumor MONDO:0020577 NCIT:C6552 NCIT:C114801 childhood gonadal germ cell tumor MONDO:0003758 childhood testicular germ cell tumor MONDO:0037250 NCIT:C6552 NCIT:C5053 childhood testicular neoplasm MONDO:0003759 childhood ovarian yolk sac tumor MONDO:0003400 NCIT:C6551 NCIT:C27364 childhood endodermal sinus tumor MONDO:0003759 childhood ovarian yolk sac tumor MONDO:0006344 NCIT:C6551 NCIT:C8107 ovarian yolk sac tumor MONDO:0003760 pediatric ovarian germ cell tumor MONDO:0011366 NCIT:C8588 NCIT:C3873 ovarian germ cell tumor MONDO:0003761 leptomeningeal melanoma MONDO:0003762 NCIT:C5317 NCIT:C8506 malignant leptomeningeal tumor MONDO:0003762 malignant leptomeningeal tumor MONDO:0021322 NCIT:C8506 NCIT:C4628 malignant tumor of meninges MONDO:0003764 pediatric leptomeningeal melanoma MONDO:0003761 NCIT:C5318 NCIT:C5317 leptomeningeal melanoma MONDO:0003765 adult leptomeningeal melanoma MONDO:0003761 NCIT:C5319 NCIT:C5317 leptomeningeal melanoma MONDO:0003766 thalamic cancer MONDO:0002786 NCIT:C4576 NCIT:C5126 diencephalic cancer MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma MONDO:0002742 NCIT:C40205 NCIT:C36095 cervical mucinous adenocarcinoma MONDO:0003768 signet ring cell variant cervical mucinous adenocarcinoma MONDO:0005092 NCIT:C40205 NCIT:C3774 signet ring cell carcinoma MONDO:0003770 thoracic spinal canal and spinal cord meningioma MONDO:0001279 NCIT:C5297 NCIT:C5134 intraspinal meningioma MONDO:0003773 intracerebral cystic meningioma MONDO:0003772 NCIT:C5269 NCIT:C4807 cerebral meningioma MONDO:0003774 cerebral convexity meningioma MONDO:0003772 NCIT:C4959 NCIT:C4807 cerebral meningioma MONDO:0003775 lateral ventricle meningioma MONDO:0002772 NCIT:C5302 NCIT:C5273 intraventricular meningioma MONDO:0003775 lateral ventricle meningioma MONDO:0003772 NCIT:C5302 NCIT:C4807 cerebral meningioma MONDO:0003776 renal pelvis inverted papilloma MONDO:0003777 NCIT:C6187 NCIT:C4528 renal pelvis urothelial papilloma MONDO:0003776 renal pelvis inverted papilloma MONDO:0021109 NCIT:C6187 NCIT:C6192 inverted urothelial papilloma MONDO:0003777 renal pelvis urothelial papilloma MONDO:0003717 NCIT:C4528 NCIT:C8603 renal pelvis papillary tumor MONDO:0003777 renal pelvis urothelial papilloma MONDO:0004041 NCIT:C4528 NCIT:C3842 urothelial papilloma MONDO:0003777 renal pelvis urothelial papilloma MONDO:0021467 NCIT:C4528 NCIT:C3616 benign neoplasm of renal pelvis MONDO:0003782 uterine corpus epithelioid leiomyosarcoma MONDO:0003356 NCIT:C40174 NCIT:C3700 epithelioid leiomyosarcoma MONDO:0003782 uterine corpus epithelioid leiomyosarcoma MONDO:0016262 NCIT:C40174 NCIT:C6340 leiomyosarcoma of the corpus uteri MONDO:0003784 nasal cavity carcinoma in situ MONDO:0003212 NCIT:C4589 NCIT:C9336 nasal cavity carcinoma MONDO:0003786 childhood testicular choriocarcinoma MONDO:0003508 NCIT:C6544 NCIT:C7733 choriocarcinoma of testis MONDO:0003787 childhood testicular mixed germ cell cancer MONDO:0003120 NCIT:C6542 NCIT:C6347 mixed testicular germ cell cancer MONDO:0003788 childhood embryonal testis carcinoma MONDO:0006446 NCIT:C6545 NCIT:C6341 testicular embryonal carcinoma MONDO:0003789 hereditary papillary renal cell carcinoma MONDO:0003008 NCIT:C9222 NCIT:C39789 hereditary renal cell carcinoma MONDO:0003789 hereditary papillary renal cell carcinoma MONDO:0017884 NCIT:C9222 NCIT:C6975 papillary renal cell carcinoma MONDO:0003790 prostatic urethra urothelial carcinoma MONDO:0002834 NCIT:C39900 NCIT:C39898 primary prostate urothelial carcinoma MONDO:0003790 prostatic urethra urothelial carcinoma MONDO:0002836 NCIT:C39900 NCIT:C6166 urethra transitional cell carcinoma MONDO:0003790 prostatic urethra urothelial carcinoma MONDO:0003791 NCIT:C39900 NCIT:C39870 prostatic urethral cancer MONDO:0003791 prostatic urethral cancer MONDO:0004197 NCIT:C39870 NCIT:C39867 male urethral cancer MONDO:0003792 ovarian carcinosarcoma MONDO:0003812 NCIT:C9192 NCIT:C40051 ovarian endometrial cancer MONDO:0003795 ovarian small cell carcinoma MONDO:0005140 NCIT:C27390 NCIT:C4908 ovarian carcinoma MONDO:0003796 rectum Kaposi sarcoma MONDO:0002168 NCIT:C5550 NCIT:C5548 rectum sarcoma MONDO:0003796 rectum Kaposi sarcoma MONDO:0024659 NCIT:C5550 NCIT:C96510 colorectal Kaposi sarcoma MONDO:0003800 conventional malignant hemangiopericytoma MONDO:0009330 NCIT:C9425 NCIT:C4301 hemangiopericytoma, malignant MONDO:0003801 corneal intraepithelial neoplasm MONDO:0021238 NCIT:C6093 NCIT:C4361 cornea neoplasm MONDO:0003801 corneal intraepithelial neoplasm MONDO:0024475 NCIT:C6093 NCIT:C8334 squamous cell intraepithelial neoplasia MONDO:0003802 cornea cancer MONDO:0002236 NCIT:C3565 NCIT:C4767 ocular cancer MONDO:0003802 cornea cancer MONDO:0021238 NCIT:C3565 NCIT:C4361 cornea neoplasm MONDO:0003805 malignant pericardial mesothelioma MONDO:0001322 NCIT:C7631 NCIT:C4567 pericardium cancer MONDO:0003805 malignant pericardial mesothelioma MONDO:0006292 NCIT:C7631 NCIT:C4456 malignant mesothelioma MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002621 NCIT:C6615 NCIT:C8810 extraosseous osteosarcoma MONDO:0003808 mediastinal extraskeletal osteosarcoma MONDO:0002852 NCIT:C6615 NCIT:C6606 mediastinum sarcoma MONDO:0003809 malignant mediastinum hemangiopericytoma MONDO:0009330 NCIT:C6608 NCIT:C4301 hemangiopericytoma, malignant MONDO:0003810 bladder diffuse clear cell adenocarcinoma MONDO:0003386 NCIT:C39849 NCIT:C6179 bladder clear cell adenocarcinoma MONDO:0003811 ovarian seromucinous tumor MONDO:0002229 NCIT:C4508 NCIT:C4381 ovarian epithelial tumor MONDO:0003812 ovarian endometrial cancer MONDO:0018364 NCIT:C40051 NCIT:C40026 malignant epithelial tumor of ovary MONDO:0003813 ovarian papillary tumor MONDO:0002229 NCIT:C8430 NCIT:C4381 ovarian epithelial tumor MONDO:0003813 ovarian papillary tumor MONDO:0021096 NCIT:C8430 NCIT:C8429 papillary epithelial neoplasm MONDO:0003818 childhood mature teratoma of the ovary MONDO:0003819 NCIT:C6548 NCIT:C6554 childhood teratoma of the ovary MONDO:0003818 childhood mature teratoma of the ovary MONDO:0003820 NCIT:C6548 NCIT:C8112 mature ovarian teratoma MONDO:0003819 childhood teratoma of the ovary MONDO:0005602 NCIT:C6554 NCIT:C8110 ovarian teratoma MONDO:0003820 mature ovarian teratoma MONDO:0003517 NCIT:C8112 NCIT:C9015 mature teratoma MONDO:0003820 mature ovarian teratoma MONDO:0003821 NCIT:C8112 NCIT:C39992 ovarian biphasic or triphasic teratoma MONDO:0003821 ovarian biphasic or triphasic teratoma MONDO:0005602 NCIT:C39992 NCIT:C8110 ovarian teratoma MONDO:0003822 non-invasive bladder papillary urothelial neoplasm MONDO:0003442 NCIT:C39831 NCIT:C39857 bladder papillary urothelial neoplasm MONDO:0003824 hereditary kidney oncocytoma MONDO:0003825 NCIT:C8960 NCIT:C4526 kidney oncocytoma MONDO:0003825 kidney oncocytoma MONDO:0002513 NCIT:C4526 NCIT:C4778 kidney benign neoplasm MONDO:0003825 kidney oncocytoma MONDO:0010795 NCIT:C4526 NCIT:C7072 oncocytic neoplasm MONDO:0003825 kidney oncocytoma MONDO:0036976 NCIT:C4526 NCIT:C4092 benign epithelial neoplasm MONDO:0003826 mediastinum seminoma MONDO:0003668 NCIT:C6812 NCIT:C7327 extragonadal seminoma MONDO:0003826 mediastinum seminoma MONDO:0006298 NCIT:C6812 NCIT:C6446 mediastinal malignant germ cell tumor MONDO:0003829 chromophil adenoma of the kidney MONDO:0002395 NCIT:C3687 NCIT:C8383 renal adenoma MONDO:0003829 chromophil adenoma of the kidney MONDO:0002533 NCIT:C3687 NCIT:C79951 papillary adenoma MONDO:0003834 gastric cardia carcinoma MONDO:0004950 NCIT:C6794 NCIT:C4911 gastric carcinoma MONDO:0003835 gastric cardia adenocarcinoma MONDO:0003834 NCIT:C5247 NCIT:C6794 gastric cardia carcinoma MONDO:0003836 malignant thyroid stimulating hormone producing neoplasm of pituitary gland MONDO:0003837 NCIT:C5965 NCIT:C7915 TSH producing pituitary tumor MONDO:0003839 ovarian mucinous adenocarcinofibroma MONDO:0002991 NCIT:C40034 NCIT:C40035 adenocarcinofibroma MONDO:0003839 ovarian mucinous adenocarcinofibroma MONDO:0024282 NCIT:C40034 NCIT:C40033 mucinous ovarian cancer MONDO:0003840 epicardium lipoma MONDO:0003841 NCIT:C6742 NCIT:C6741 heart lipoma MONDO:0003840 epicardium lipoma MONDO:0021508 NCIT:C6742 NCIT:C8535 benign neoplasm of epicardium MONDO:0003841 heart lipoma MONDO:0005106 NCIT:C6741 NCIT:C3192 lipoma MONDO:0003841 heart lipoma MONDO:0021450 NCIT:C6741 NCIT:C3605 benign neoplasm of heart MONDO:0003842 childhood cerebellar astrocytic neoplasm MONDO:0003165 NCIT:C6286 NCIT:C9475 cerebellar astrocytoma MONDO:0003842 childhood cerebellar astrocytic neoplasm MONDO:0003263 NCIT:C6286 NCIT:C5970 childhood cerebellar neoplasm MONDO:0003843 cerebral hemisphere lipoma MONDO:0021497 NCIT:C6220 NCIT:C8548 benign neoplasm of cerebrum MONDO:0003844 central nervous system lipoma MONDO:0005106 NCIT:C5451 NCIT:C3192 lipoma MONDO:0003845 corpus callosum lipoma MONDO:0003843 NCIT:C5438 NCIT:C6220 cerebral hemisphere lipoma MONDO:0003849 clivus chordoma MONDO:0002892 NCIT:C5412 NCIT:C5453 skull base chordoma MONDO:0003850 clivus chondroid chordoma MONDO:0003849 NCIT:C5426 NCIT:C5412 clivus chordoma MONDO:0003850 clivus chondroid chordoma MONDO:0006145 NCIT:C5426 NCIT:C6902 chondroid chordoma MONDO:0003851 ovarian fetiform teratoma MONDO:0003820 NCIT:C39996 NCIT:C8112 mature ovarian teratoma MONDO:0003852 ovarian solid teratoma MONDO:0003820 NCIT:C7285 NCIT:C8112 mature ovarian teratoma MONDO:0003853 Bartholin gland adenocarcinoma MONDO:0002829 NCIT:C7719 NCIT:C9055 bartholin gland carcinoma MONDO:0003853 Bartholin gland adenocarcinoma MONDO:0024336 NCIT:C7719 NCIT:C6380 vulvar adenocarcinoma MONDO:0003856 adult malignant hemangiopericytoma MONDO:0009330 NCIT:C7946 NCIT:C4301 hemangiopericytoma, malignant MONDO:0003858 anterior optic tract meningioma MONDO:0024648 NCIT:C7538 NCIT:C5587 optic tract meningioma MONDO:0003859 bilateral meningioma of optic nerve MONDO:0002640 NCIT:C5304 NCIT:C4801 optic nerve neoplasm MONDO:0003859 bilateral meningioma of optic nerve MONDO:0024648 NCIT:C5304 NCIT:C5587 optic tract meningioma MONDO:0003860 cerebellopontine angle meningioma MONDO:0002553 NCIT:C5300 NCIT:C5414 cerebellopontine angle tumor MONDO:0003861 vulvar eccrine adenocarcinoma MONDO:0024240 NCIT:C40305 NCIT:C27255 eccrine carcinoma MONDO:0003862 melanotic psammomatous malignant peripheral nerve sheath tumor MONDO:0003863 NCIT:C6910 NCIT:C4748 malignant melanocytic neoplasm of the peripheral nerve sheath MONDO:0003863 malignant melanocytic neoplasm of the peripheral nerve sheath MONDO:0017827 NCIT:C4748 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0003866 liver extraskeletal osteosarcoma MONDO:0002397 NCIT:C5833 NCIT:C4437 liver sarcoma MONDO:0003866 liver extraskeletal osteosarcoma MONDO:0002621 NCIT:C5833 NCIT:C8810 extraosseous osteosarcoma MONDO:0003868 anterior foramen magnum meningioma MONDO:0003109 NCIT:C5281 NCIT:C5280 foramen magnum meningioma MONDO:0003869 childhood brain stem glioma MONDO:0002911 NCIT:C9042 NCIT:C8501 brain stem glioma MONDO:0003869 childhood brain stem glioma MONDO:0002914 NCIT:C9042 NCIT:C5969 childhood brain stem neoplasm MONDO:0003870 childhood brainstem astrocytoma MONDO:0003173 NCIT:C6216 NCIT:C7445 brain stem astrocytic neoplasm MONDO:0003870 childhood brainstem astrocytoma MONDO:0003869 NCIT:C6216 NCIT:C9042 childhood brain stem glioma MONDO:0003872 ovarian papillary cystadenoma MONDO:0003813 NCIT:C7278 NCIT:C8430 ovarian papillary tumor MONDO:0003873 ovarian surface papilloma MONDO:0002362 NCIT:C7279 NCIT:C4181 serous surface papilloma MONDO:0003873 ovarian surface papilloma MONDO:0003813 NCIT:C7279 NCIT:C8430 ovarian papillary tumor MONDO:0003874 ovarian serous surface papillary adenocarcinoma MONDO:0003813 NCIT:C6256 NCIT:C8430 ovarian papillary tumor MONDO:0003874 ovarian serous surface papillary adenocarcinoma MONDO:0005211 NCIT:C6256 NCIT:C7550 ovarian serous adenocarcinoma MONDO:0003875 childhood central nervous system mature teratoma MONDO:0003733 NCIT:C27404 NCIT:C7013 central nervous system mature teratoma MONDO:0003876 eyelid carcinoma MONDO:0002466 NCIT:C6078 NCIT:C6079 eye carcinoma MONDO:0003876 eyelid carcinoma MONDO:0021313 NCIT:C6078 NCIT:C6786 eyelid cancer MONDO:0003878 malignant choroid melanoma MONDO:0006486 NCIT:C4561 NCIT:C7712 uveal melanoma MONDO:0003878 malignant choroid melanoma MONDO:0006700 NCIT:C4561 NCIT:C3566 choroid cancer MONDO:0003880 ceruminous carcinoma MONDO:0002944 NCIT:C4176 NCIT:C6081 external ear carcinoma MONDO:0003880 ceruminous carcinoma MONDO:0003214 NCIT:C4176 NCIT:C4169 apocrine adenocarcinoma MONDO:0003881 vulvar apocrine adenocarcinoma MONDO:0003214 NCIT:C40308 NCIT:C4169 apocrine adenocarcinoma MONDO:0003882 central nervous system fibrosarcoma MONDO:0002217 NCIT:C5465 NCIT:C5153 central nervous system sarcoma MONDO:0003884 lipoma of the rectum MONDO:0003885 NCIT:C5551 NCIT:C5678 colorectal lipoma MONDO:0003884 lipoma of the rectum MONDO:0021462 NCIT:C5551 NCIT:C4774 benign neoplasm of rectum MONDO:0003885 colorectal lipoma MONDO:0021444 NCIT:C5678 NCIT:C4610 benign neoplasm of large intestine MONDO:0003886 mucinous cystadenofibroma MONDO:0002398 NCIT:C8979 NCIT:C8978 mucinous adenofibroma MONDO:0003886 mucinous cystadenofibroma MONDO:0003464 NCIT:C8979 NCIT:C8985 cystadenofibroma MONDO:0003887 ovarian mucinous adenofibroma MONDO:0002398 NCIT:C40040 NCIT:C8978 mucinous adenofibroma MONDO:0003888 childhood testicular mixed embryonal carcinoma and teratoma MONDO:0003787 NCIT:C6539 NCIT:C6542 childhood testicular mixed germ cell cancer MONDO:0003889 infiltrating bladder urothelial carcinoma, clear cell variant MONDO:0003890 NCIT:C39827 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0003890 infiltrating bladder urothelial carcinoma MONDO:0005611 NCIT:C27885 NCIT:C39851 bladder transitional cell carcinoma MONDO:0003890 infiltrating bladder urothelial carcinoma MONDO:0040678 NCIT:C27885 NCIT:C39853 infiltrating urothelial carcinoma MONDO:0003891 bladder signet ring cell adenocarcinoma MONDO:0002751 NCIT:C6163 NCIT:C4032 bladder adenocarcinoma MONDO:0003891 bladder signet ring cell adenocarcinoma MONDO:0005092 NCIT:C6163 NCIT:C3774 signet ring cell carcinoma MONDO:0003893 rete testis adenoma MONDO:0003562 NCIT:C39956 NCIT:C39955 rete testis neoplasm MONDO:0003894 mediastinal melanocytic neurilemmoma MONDO:0002558 NCIT:C6635 NCIT:C6970 melanotic neurilemmoma MONDO:0003895 periosteal osteogenic sarcoma MONDO:0002628 NCIT:C8970 NCIT:C7134 peripheral osteosarcoma MONDO:0003896 breast capillary hemangioma MONDO:0002407 NCIT:C5210 NCIT:C7457 capillary hemangioma MONDO:0003896 breast capillary hemangioma MONDO:0003126 NCIT:C5210 NCIT:C5353 breast hemangioma MONDO:0003897 breast epithelioid hemangioma MONDO:0003126 NCIT:C5211 NCIT:C5353 breast hemangioma MONDO:0003897 breast epithelioid hemangioma MONDO:0021169 NCIT:C5211 NCIT:C4298 epithelioid hemangioma MONDO:0003903 benign vaginal mixed tumor MONDO:0001731 NCIT:C40280 NCIT:C40275 benign vaginal mixed epithelial and mesenchymal neoplasm MONDO:0003904 lung occult squamous cell carcinoma MONDO:0005097 NCIT:C6686 NCIT:C3493 squamous cell lung carcinoma MONDO:0003905 ovarian yolk sac tumor, glandular pattern MONDO:0006344 NCIT:C39988 NCIT:C8107 ovarian yolk sac tumor MONDO:0003906 ovarian yolk sac tumor, hepatoid pattern MONDO:0006344 NCIT:C39989 NCIT:C8107 ovarian yolk sac tumor MONDO:0003907 ovarian yolk sac tumor, polyvesicular vitelline pattern MONDO:0006344 NCIT:C39987 NCIT:C8107 ovarian yolk sac tumor MONDO:0003908 clivus meningioma MONDO:0002919 NCIT:C5289 NCIT:C6775 posterior cranial fossa meningioma MONDO:0003908 clivus meningioma MONDO:0002998 NCIT:C5289 NCIT:C5272 skull base meningioma MONDO:0003909 Bartholin gland adenomyoma MONDO:0002198 NCIT:C40300 NCIT:C40292 vulvar glandular neoplasm MONDO:0003909 Bartholin gland adenomyoma MONDO:0036976 NCIT:C40300 NCIT:C4092 benign epithelial neoplasm MONDO:0003910 mixed cell uveal melanoma MONDO:0006486 NCIT:C35781 NCIT:C7712 uveal melanoma MONDO:0003911 ciliary body mixed cell melanoma MONDO:0003910 NCIT:C35783 NCIT:C35781 mixed cell uveal melanoma MONDO:0003911 ciliary body mixed cell melanoma MONDO:0003912 NCIT:C35783 NCIT:C4558 malignant ciliary body melanoma MONDO:0003912 malignant ciliary body melanoma MONDO:0002969 NCIT:C4558 NCIT:C4766 ciliary body cancer MONDO:0003913 choroid mixed cell melanoma MONDO:0003878 NCIT:C35782 NCIT:C4561 malignant choroid melanoma MONDO:0003913 choroid mixed cell melanoma MONDO:0003910 NCIT:C35782 NCIT:C35781 mixed cell uveal melanoma MONDO:0003915 cortical thymoma MONDO:0016974 NCIT:C6888 NCIT:C7114 thymoma type B MONDO:0003917 heart lymphoma MONDO:0001340 NCIT:C5368 NCIT:C3548 heart cancer MONDO:0003921 posterior foramen magnum meningioma MONDO:0003109 NCIT:C5282 NCIT:C5280 foramen magnum meningioma MONDO:0003922 ovarian clear cell malignant adenofibroma MONDO:0000548 NCIT:C40079 NCIT:C40077 ovarian clear cell cancer MONDO:0003923 ethmoid sinus Schneiderian papilloma MONDO:0006353 NCIT:C6836 NCIT:C6835 paranasal sinus Schneiderian papilloma MONDO:0003923 ethmoid sinus Schneiderian papilloma MONDO:0021515 NCIT:C6836 NCIT:C4417 benign neoplasm of ethmoidal sinus MONDO:0003924 adrenal cortex adenoma MONDO:0004972 NCIT:C9003 NCIT:C2855 adenoma MONDO:0003925 ethmoid sinus inverted papilloma MONDO:0003923 NCIT:C6843 NCIT:C6836 ethmoid sinus Schneiderian papilloma MONDO:0003926 neurilemmoma of the pleura MONDO:0004820 NCIT:C5418 NCIT:C41430 peripheral nerve schwannoma MONDO:0003928 uterine corpus myxoid leiomyosarcoma MONDO:0003359 NCIT:C40175 NCIT:C3701 myxoid leiomyosarcoma MONDO:0003928 uterine corpus myxoid leiomyosarcoma MONDO:0016262 NCIT:C40175 NCIT:C6340 leiomyosarcoma of the corpus uteri MONDO:0003929 vestibular micropapillomatosis MONDO:0002194 NCIT:C40290 NCIT:C6376 vestibular papilloma MONDO:0003931 childhood optic tract astrocytoma MONDO:0024649 NCIT:C7534 NCIT:C7533 optic tract astrocytoma MONDO:0003933 chest wall bone cancer MONDO:0002129 NCIT:C6724 NCIT:C4016 bone cancer MONDO:0003933 chest wall bone cancer MONDO:0021323 NCIT:C6724 NCIT:C4580 malignant neoplasm of chest wall MONDO:0003934 breast apocrine carcinoma MONDO:0003214 NCIT:C5141 NCIT:C4169 apocrine adenocarcinoma MONDO:0003936 invasive tubular breast carcinoma MONDO:0005606 NCIT:C9135 NCIT:C65192 tubular adenocarcinoma MONDO:0003938 bladder colonic type adenocarcinoma MONDO:0002751 NCIT:C39835 NCIT:C4032 bladder adenocarcinoma MONDO:0003941 classic variant of chromophobe renal cell carcinoma MONDO:0017885 NCIT:C27888 NCIT:C4146 chromophobe renal cell carcinoma MONDO:0003942 eosinophilic variant of chromophobe renal cell carcinoma MONDO:0017885 NCIT:C27889 NCIT:C4146 chromophobe renal cell carcinoma MONDO:0003943 central nervous system hibernoma MONDO:0003844 NCIT:C6997 NCIT:C5451 central nervous system lipoma MONDO:0003943 central nervous system hibernoma MONDO:0021168 NCIT:C6997 NCIT:C3702 hibernoma MONDO:0003944 endobronchial leiomyoma MONDO:0003293 NCIT:C5661 NCIT:C5660 lung leiomyoma MONDO:0003945 bone epithelioid hemangioma MONDO:0021169 NCIT:C5396 NCIT:C4298 epithelioid hemangioma MONDO:0003946 vaginal villous adenoma MONDO:0003434 NCIT:C40259 NCIT:C40256 vaginal adenoma MONDO:0003948 cerebral hemangioma MONDO:0003428 NCIT:C5433 NCIT:C7739 brain hemangioma MONDO:0003948 cerebral hemangioma MONDO:0021497 NCIT:C5433 NCIT:C8548 benign neoplasm of cerebrum MONDO:0003950 nipple carcinoma MONDO:0004989 NCIT:C28432 NCIT:C4872 breast carcinoma MONDO:0003951 scrotal hemangioma MONDO:0003110 NCIT:C6387 NCIT:C4905 skin hemangioma MONDO:0003951 scrotal hemangioma MONDO:0021472 NCIT:C6387 NCIT:C3615 benign neoplasm of scrotum MONDO:0003952 adult central nervous system choriocarcinoma MONDO:0003405 NCIT:C5793 NCIT:C6285 adult central nervous system germ cell tumor MONDO:0003952 adult central nervous system choriocarcinoma MONDO:0016740 NCIT:C5793 NCIT:C7012 choriocarcinoma of the central nervous system MONDO:0003953 pediatric CNS choriocarcinoma MONDO:0003750 NCIT:C6206 NCIT:C6205 childhood central nervous system germ cell tumor MONDO:0003953 pediatric CNS choriocarcinoma MONDO:0016740 NCIT:C6206 NCIT:C7012 choriocarcinoma of the central nervous system MONDO:0003955 juvenile breast papillomatosis MONDO:0004253 NCIT:C9503 NCIT:C5201 intraductal breast papillomatosis MONDO:0003957 adult pineoblastoma MONDO:0003248 NCIT:C8292 NCIT:C8273 adult pineal parenchymal tumor MONDO:0003957 adult pineoblastoma MONDO:0016722 NCIT:C8292 NCIT:C9344 pineoblastoma MONDO:0003958 childhood central nervous system immature teratoma MONDO:0003735 NCIT:C27405 NCIT:C7014 central nervous system immature teratoma MONDO:0003960 pulmonary large cell neuroendocrine carcinoma MONDO:0005057 NCIT:C5672 NCIT:C6875 large cell neuroendocrine carcinoma MONDO:0003966 testicular monophasic choriocarcinoma MONDO:0003508 NCIT:C39935 NCIT:C7733 choriocarcinoma of testis MONDO:0003967 synchronous multifocal osteogenic sarcoma MONDO:0002622 NCIT:C6471 NCIT:C6470 multifocal osteogenic sarcoma MONDO:0003968 asynchronous multifocal osteogenic sarcoma MONDO:0002622 NCIT:C6472 NCIT:C6470 multifocal osteogenic sarcoma MONDO:0003970 gastric fundus carcinoma MONDO:0004950 NCIT:C8398 NCIT:C4911 gastric carcinoma MONDO:0003971 gastric pylorus carcinoma MONDO:0004950 NCIT:C6795 NCIT:C4911 gastric carcinoma MONDO:0003972 gastric body carcinoma MONDO:0004950 NCIT:C8399 NCIT:C4911 gastric carcinoma MONDO:0003973 tubular variant testicular seminoma MONDO:0003669 NCIT:C40959 NCIT:C7328 testicular seminoma MONDO:0003975 Littre gland carcinoma MONDO:0004197 NCIT:C39865 NCIT:C39867 male urethral cancer MONDO:0003976 malignant type AB thymoma MONDO:0006451 NCIT:C6886 NCIT:C7612 thymic carcinoma MONDO:0003976 malignant type AB thymoma MONDO:0016975 NCIT:C6886 NCIT:C6885 thymoma type AB MONDO:0003979 intrahepatic bile duct cystadenoma MONDO:0003420 NCIT:C96835 NCIT:C4129 bile duct cystadenoma MONDO:0003980 schwannoma of jugular foramen MONDO:0004820 NCIT:C5323 NCIT:C41430 peripheral nerve schwannoma MONDO:0003982 bilateral breast carcinoma MONDO:0004989 NCIT:C8287 NCIT:C4872 breast carcinoma MONDO:0003983 synchronous bilateral breast carcinoma MONDO:0003982 NCIT:C40370 NCIT:C8287 bilateral breast carcinoma MONDO:0003985 chest wall lymphoma MONDO:0021323 NCIT:C6712 NCIT:C4580 malignant neoplasm of chest wall MONDO:0003987 lung lymphoma MONDO:0008903 NCIT:C4794 NCIT:C7377 lung cancer MONDO:0003988 sternum lymphoma MONDO:0003273 NCIT:C6716 NCIT:C8408 sternum cancer MONDO:0003989 polyembryoma of the ovary MONDO:0015863 NCIT:C39990 NCIT:C66776 polyembryoma MONDO:0003989 polyembryoma of the ovary MONDO:0016096 NCIT:C39990 NCIT:C102870 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0003990 malignant breast myoepithelioma MONDO:0002483 NCIT:C40395 NCIT:C40389 breast myoepithelial tumor MONDO:0003990 malignant breast myoepithelioma MONDO:0003158 NCIT:C40395 NCIT:C7596 malignant myoepithelioma MONDO:0003990 malignant breast myoepithelioma MONDO:0006256 NCIT:C40395 NCIT:C9245 invasive breast carcinoma MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma MONDO:0003204 NCIT:C27846 NCIT:C4142 villous adenocarcinoma MONDO:0003991 villoglandular endometrial endometrioid adenocarcinoma MONDO:0006192 NCIT:C27846 NCIT:C6287 endometrial endometrioid adenocarcinoma MONDO:0003992 childhood botryoid rhabdomyosarcoma MONDO:0002578 NCIT:C35574 NCIT:C9150 botryoid rhabdomyosarcoma MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma MONDO:0003992 NCIT:C35556 NCIT:C35574 childhood botryoid rhabdomyosarcoma MONDO:0003993 childhood vagina botryoid rhabdomyosarcoma MONDO:0003994 NCIT:C35556 NCIT:C40268 botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0002578 NCIT:C40268 NCIT:C9150 botryoid rhabdomyosarcoma MONDO:0003994 botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0016095 NCIT:C40268 NCIT:C128080 vaginal rhabdomyosarcoma MONDO:0003995 vulvar childhood botryoid-type embryonal rhabdomyosarcoma MONDO:0003992 NCIT:C36098 NCIT:C35574 childhood botryoid rhabdomyosarcoma MONDO:0003997 colon Kaposi sarcoma MONDO:0003352 NCIT:C5516 NCIT:C5495 colon sarcoma MONDO:0003997 colon Kaposi sarcoma MONDO:0024659 NCIT:C5516 NCIT:C96510 colorectal Kaposi sarcoma MONDO:0003999 juvenile pilocytic astrocytoma MONDO:0004000 NCIT:C27081 NCIT:C4048 childhood pilocytic astrocytoma MONDO:0004000 childhood pilocytic astrocytoma MONDO:0016691 NCIT:C4048 NCIT:C4047 pilocytic astrocytoma MONDO:0004005 rete ovarii adenoma MONDO:0003192 NCIT:C40018 NCIT:C40016 rete ovarii neoplasm MONDO:0004005 rete ovarii adenoma MONDO:0024276 NCIT:C40018 NCIT:C7132 glandular cell neoplasm MONDO:0004006 rete ovarii cystadenofibroma MONDO:0003192 NCIT:C40020 NCIT:C40016 rete ovarii neoplasm MONDO:0004006 rete ovarii cystadenofibroma MONDO:0003464 NCIT:C40020 NCIT:C8985 cystadenofibroma MONDO:0004007 breast intraductal proliferative lesion MONDO:0002488 NCIT:C27942 NCIT:C36083 intraductal breast neoplasm MONDO:0004008 flat ductal epithelial atypia MONDO:0004007 NCIT:C36086 NCIT:C27942 breast intraductal proliferative lesion MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO:0005221 NCIT:C6186 NCIT:C7355 renal pelvis urothelial carcinoma MONDO:0004010 infiltrating renal pelvis/ureter urothelial carcinoma MONDO:0040678 NCIT:C39879 NCIT:C39853 infiltrating urothelial carcinoma MONDO:0004012 adult botryoid rhabdomyosarcoma MONDO:0002578 NCIT:C36099 NCIT:C9150 botryoid rhabdomyosarcoma MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma MONDO:0003994 NCIT:C40267 NCIT:C40268 botryoid-type embryonal rhabdomyosarcoma of the vagina MONDO:0004013 adult vagina botryoid embryonal rhabdomyosarcoma MONDO:0004012 NCIT:C40267 NCIT:C36099 adult botryoid rhabdomyosarcoma MONDO:0004014 ethmoid sinus ectopic meningioma MONDO:0001764 NCIT:C5309 NCIT:C4416 ethmoidal sinus neoplasm MONDO:0004015 pineal region teratoma MONDO:0002718 NCIT:C6753 NCIT:C5441 central nervous system teratoma MONDO:0004016 pineal region mature teratoma MONDO:0003733 NCIT:C6754 NCIT:C7013 central nervous system mature teratoma MONDO:0004016 pineal region mature teratoma MONDO:0004015 NCIT:C6754 NCIT:C6753 pineal region teratoma MONDO:0004017 pineal region immature teratoma MONDO:0003735 NCIT:C6755 NCIT:C7014 central nervous system immature teratoma MONDO:0004017 pineal region immature teratoma MONDO:0004015 NCIT:C6755 NCIT:C6753 pineal region teratoma MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma MONDO:0006192 NCIT:C27849 NCIT:C6287 endometrial endometrioid adenocarcinoma MONDO:0004020 mediastinal gray zone lymphoma MONDO:0003658 NCIT:C37870 NCIT:C37869 B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma MONDO:0004021 mediastinal malignant lymphoma MONDO:0005843 NCIT:C6633 NCIT:C3549 mediastinal cancer MONDO:0004022 parasagittal meningioma MONDO:0003772 NCIT:C4960 NCIT:C4807 cerebral meningioma MONDO:0004024 spinal cord neuroblastoma MONDO:0002749 NCIT:C5155 NCIT:C5437 extracranial neuroblastoma MONDO:0004024 spinal cord neuroblastoma MONDO:0003544 NCIT:C5155 NCIT:C3572 spinal cord cancer MONDO:0004028 small intestinal fibrosarcoma MONDO:0003361 NCIT:C5336 NCIT:C5335 small intestinal sarcoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0006481 NCIT:C4830 NCIT:C8993 ureter carcinoma MONDO:0004030 ureter transitional cell carcinoma MONDO:0020654 NCIT:C4830 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0004032 ovarian seromucinous carcinoma MONDO:0003811 NCIT:C40090 NCIT:C4508 ovarian seromucinous tumor MONDO:0004032 ovarian seromucinous carcinoma MONDO:0005140 NCIT:C40090 NCIT:C4908 ovarian carcinoma MONDO:0004034 eye lymphoma MONDO:0002236 NCIT:C35690 NCIT:C4767 ocular cancer MONDO:0004040 urinary bladder inverted papilloma MONDO:0021109 NCIT:C39859 NCIT:C6192 inverted urothelial papilloma MONDO:0004040 urinary bladder inverted papilloma MONDO:0044906 NCIT:C39859 NCIT:C39858 bladder urothelial papilloma MONDO:0004041 urothelial papilloma MONDO:0003443 NCIT:C3842 NCIT:C27883 papillary urothelial neoplasm MONDO:0004041 urothelial papilloma MONDO:0003755 NCIT:C3842 NCIT:C39854 urinary tract non-invasive transitional cell neoplasm MONDO:0004041 urothelial papilloma MONDO:0004180 NCIT:C3842 NCIT:C192667 benign urinary system neoplasm MONDO:0004041 urothelial papilloma MONDO:0005605 NCIT:C3842 NCIT:C4115 transitional cell papilloma MONDO:0004042 urethra inverted papilloma MONDO:0002221 NCIT:C6173 NCIT:C5061 urethral urothelial papilloma MONDO:0004042 urethra inverted papilloma MONDO:0021109 NCIT:C6173 NCIT:C6192 inverted urothelial papilloma MONDO:0004043 ureter inverted papilloma MONDO:0004044 NCIT:C6174 NCIT:C6160 ureter urothelial papilloma MONDO:0004043 ureter inverted papilloma MONDO:0021109 NCIT:C6174 NCIT:C6192 inverted urothelial papilloma MONDO:0004044 ureter urothelial papilloma MONDO:0001398 NCIT:C6160 NCIT:C3617 ureter benign neoplasm MONDO:0004044 ureter urothelial papilloma MONDO:0004041 NCIT:C6160 NCIT:C3842 urothelial papilloma MONDO:0004045 pediatric intraocular retinoblastoma MONDO:0003077 NCIT:C9047 NCIT:C7846 intraocular retinoblastoma MONDO:0004046 childhood brain meningioma MONDO:0003057 NCIT:C6253 NCIT:C8264 pediatric meningioma MONDO:0004046 childhood brain meningioma MONDO:0850302 NCIT:C6253 NCIT:C4656 intracranial meningioma MONDO:0004047 sphenoidal sinus neoplasm MONDO:0005289 NCIT:C6792 NCIT:C7488 paranasal sinus neoplasm MONDO:0004048 immature gastric teratoma MONDO:0003513 NCIT:C5256 NCIT:C5259 gastric teratoma MONDO:0004051 aleukemic monocytic leukemia cutis MONDO:0003729 NCIT:C5630 NCIT:C4983 aleukemic leukemia cutis MONDO:0004051 aleukemic monocytic leukemia cutis MONDO:0007896 NCIT:C5630 NCIT:C4861 acute monocytic leukemia MONDO:0004052 rectal cloacogenic carcinoma MONDO:0018515 NCIT:C5555 NCIT:C5554 squamous cell carcinoma of rectum MONDO:0004053 bartholin gland squamous cell carcinoma MONDO:0002829 NCIT:C40293 NCIT:C9055 bartholin gland carcinoma MONDO:0004053 bartholin gland squamous cell carcinoma MONDO:0024609 NCIT:C40293 NCIT:C4052 vulvar squamous cell carcinoma MONDO:0004056 bladder papillary urothelial carcinoma MONDO:0003442 NCIT:C7383 NCIT:C39857 bladder papillary urothelial neoplasm MONDO:0004056 bladder papillary urothelial carcinoma MONDO:0005611 NCIT:C7383 NCIT:C39851 bladder transitional cell carcinoma MONDO:0004056 bladder papillary urothelial carcinoma MONDO:0006350 NCIT:C7383 NCIT:C4122 papillary transitional cell carcinoma MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C27202 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004060 peripheral epithelioid sarcoma MONDO:0017387 NCIT:C27473 NCIT:C3714 epithelioid sarcoma MONDO:0004062 intermediate cell type uveal melanoma MONDO:0006486 NCIT:C7989 NCIT:C7712 uveal melanoma MONDO:0004063 intermediate cell type iris melanoma MONDO:0004062 NCIT:C6101 NCIT:C7989 intermediate cell type uveal melanoma MONDO:0004063 intermediate cell type iris melanoma MONDO:0004064 NCIT:C6101 NCIT:C9088 iris melanoma MONDO:0004064 iris melanoma MONDO:0002658 NCIT:C9088 NCIT:C4554 iris cancer MONDO:0004064 iris melanoma MONDO:0006486 NCIT:C9088 NCIT:C7712 uveal melanoma MONDO:0004065 intermediate cell type choroid melanoma MONDO:0003878 NCIT:C6100 NCIT:C4561 malignant choroid melanoma MONDO:0004065 intermediate cell type choroid melanoma MONDO:0004062 NCIT:C6100 NCIT:C7989 intermediate cell type uveal melanoma MONDO:0004066 intermediate cell type ciliary body melanoma MONDO:0003912 NCIT:C6118 NCIT:C4558 malignant ciliary body melanoma MONDO:0004067 gallbladder mucinous adenocarcinoma MONDO:0004957 NCIT:C5744 NCIT:C26712 mucinous adenocarcinoma MONDO:0004067 gallbladder mucinous adenocarcinoma MONDO:0006215 NCIT:C5744 NCIT:C9166 gallbladder adenocarcinoma MONDO:0004071 childhood cerebral astrocytoma MONDO:0021633 NCIT:C4347 NCIT:C4951 cerebral astrocytoma MONDO:0004074 ovarian mucinous cystadenofibroma MONDO:0003886 NCIT:C40041 NCIT:C8979 mucinous cystadenofibroma MONDO:0004074 ovarian mucinous cystadenofibroma MONDO:0003887 NCIT:C40041 NCIT:C40040 ovarian mucinous adenofibroma MONDO:0004078 mucinous intrahepatic cholangiocarcinoma MONDO:0003210 NCIT:C41618 NCIT:C35417 intrahepatic cholangiocarcinoma MONDO:0004080 glottis squamous cell carcinoma MONDO:0002355 NCIT:C8186 NCIT:C4923 glottis carcinoma MONDO:0004080 glottis squamous cell carcinoma MONDO:0005595 NCIT:C8186 NCIT:C4044 laryngeal squamous cell carcinoma MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma MONDO:0002665 NCIT:C5775 NCIT:C7975 extrahepatic bile duct adenocarcinoma MONDO:0004081 extrahepatic bile duct clear cell adenocarcinoma MONDO:0005004 NCIT:C5775 NCIT:C3766 clear cell adenocarcinoma MONDO:0004082 childhood immature teratoma of ovary MONDO:0003819 NCIT:C6547 NCIT:C6554 childhood teratoma of the ovary MONDO:0004082 childhood immature teratoma of ovary MONDO:0018369 NCIT:C6547 NCIT:C8111 immature ovarian teratoma MONDO:0004085 choroid epithelioid cell melanoma MONDO:0003878 NCIT:C6102 NCIT:C4561 malignant choroid melanoma MONDO:0004085 choroid epithelioid cell melanoma MONDO:0006200 NCIT:C6102 NCIT:C35780 epithelioid cell uveal melanoma MONDO:0004086 ciliary body epithelioid cell melanoma MONDO:0003912 NCIT:C6119 NCIT:C4558 malignant ciliary body melanoma MONDO:0004086 ciliary body epithelioid cell melanoma MONDO:0006200 NCIT:C6119 NCIT:C35780 epithelioid cell uveal melanoma MONDO:0004087 basaloid large cell lung carcinoma MONDO:0003050 NCIT:C7266 NCIT:C4450 lung large cell carcinoma MONDO:0004087 basaloid large cell lung carcinoma MONDO:0006102 NCIT:C7266 NCIT:C4121 basaloid carcinoma MONDO:0004088 cervical basaloid carcinoma MONDO:0003486 NCIT:C40189 NCIT:C54244 basaloid squamous cell carcinoma MONDO:0004088 cervical basaloid carcinoma MONDO:0006143 NCIT:C40189 NCIT:C4028 cervical squamous cell carcinoma MONDO:0004089 basaloid carcinoma of the penis MONDO:0003486 NCIT:C6980 NCIT:C54244 basaloid squamous cell carcinoma MONDO:0004089 basaloid carcinoma of the penis MONDO:0020656 NCIT:C6980 NCIT:C27682 human papillomavirus-related penile squamous cell carcinoma MONDO:0004090 vulvar basaloid squamous cell carcinoma MONDO:0003486 NCIT:C40286 NCIT:C54244 basaloid squamous cell carcinoma MONDO:0004090 vulvar basaloid squamous cell carcinoma MONDO:0024609 NCIT:C40286 NCIT:C4052 vulvar squamous cell carcinoma MONDO:0004091 skin basaloid carcinoma MONDO:0002529 NCIT:C27543 NCIT:C4819 skin squamous cell carcinoma MONDO:0004091 skin basaloid carcinoma MONDO:0003486 NCIT:C27543 NCIT:C54244 basaloid squamous cell carcinoma MONDO:0004091 skin basaloid carcinoma MONDO:0005056 NCIT:C27543 NCIT:C4105 keratinizing squamous cell carcinoma MONDO:0004092 thymic basaloid carcinoma MONDO:0003486 NCIT:C6456 NCIT:C54244 basaloid squamous cell carcinoma MONDO:0004092 thymic basaloid carcinoma MONDO:0003493 NCIT:C6456 NCIT:C6455 thymus squamous cell carcinoma MONDO:0004093 esophageal basaloid carcinoma MONDO:0003486 NCIT:C7032 NCIT:C54244 basaloid squamous cell carcinoma MONDO:0004093 esophageal basaloid carcinoma MONDO:0005580 NCIT:C7032 NCIT:C4024 esophageal squamous cell carcinoma MONDO:0004094 multiple skull base meningioma MONDO:0002998 NCIT:C5279 NCIT:C5272 skull base meningioma MONDO:0004098 malignant melanocytic peripheral nerve sheath tumor of mediastinum MONDO:0003863 NCIT:C6630 NCIT:C4748 malignant melanocytic neoplasm of the peripheral nerve sheath MONDO:0004099 adult cystic teratoma MONDO:0002379 NCIT:C9012 NCIT:C9014 cystic teratoma MONDO:0004099 adult cystic teratoma MONDO:0003516 NCIT:C9012 NCIT:C9013 adult teratoma MONDO:0004101 multicentric papillary thyroid carcinoma MONDO:0005075 NCIT:C37304 NCIT:C4035 thyroid gland papillary carcinoma MONDO:0004102 columnar cell variant thyroid gland papillary carcinoma MONDO:0005075 NCIT:C35830 NCIT:C4035 thyroid gland papillary carcinoma MONDO:0004103 tall cell variant thyroid gland papillary carcinoma MONDO:0005075 NCIT:C35558 NCIT:C4035 thyroid gland papillary carcinoma MONDO:0004104 splenic manifestation of hairy cell leukemia MONDO:0004107 NCIT:C7301 NCIT:C7296 splenic manifestation of leukemia MONDO:0004104 splenic manifestation of hairy cell leukemia MONDO:0018935 NCIT:C7301 NCIT:C7402 hairy cell leukemia MONDO:0004105 childhood epithelioid sarcoma MONDO:0017387 NCIT:C8095 NCIT:C3714 epithelioid sarcoma MONDO:0004106 testicular yolk sac tumor, macrocystic pattern MONDO:0003402 NCIT:C39924 NCIT:C8000 testicular yolk sac tumor MONDO:0004107 splenic manifestation of leukemia MONDO:0005059 NCIT:C7296 NCIT:C3161 leukemia MONDO:0004107 splenic manifestation of leukemia MONDO:0005966 NCIT:C7296 NCIT:C3539 spleen cancer MONDO:0004109 epiglottis neoplasm MONDO:0004427 NCIT:C4933 NCIT:C6793 supraglottis neoplasm MONDO:0004110 refractory hairy cell leukemia MONDO:0018935 NCIT:C8030 NCIT:C7402 hairy cell leukemia MONDO:0004111 refractory hematologic cancer MONDO:0044881 NCIT:C27357 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0004120 Bartholin gland small cell carcinoma MONDO:0002829 NCIT:C40298 NCIT:C9055 bartholin gland carcinoma MONDO:0004122 thymus small cell carcinoma MONDO:0020516 NCIT:C6460 NCIT:C171031 thymic neuroendocrine carcinoma MONDO:0004124 prostate stromal sarcoma MONDO:0002854 NCIT:C5524 NCIT:C7731 prostate sarcoma MONDO:0004124 prostate stromal sarcoma MONDO:0044337 NCIT:C5524 NCIT:C6926 stromal sarcoma MONDO:0004125 rectum leiomyoma MONDO:0003299 NCIT:C5552 NCIT:C5677 colorectal leiomyoma MONDO:0004125 rectum leiomyoma MONDO:0021462 NCIT:C5552 NCIT:C4774 benign neoplasm of rectum MONDO:0004127 lung occult adenocarcinoma MONDO:0005061 NCIT:C6699 NCIT:C3512 lung adenocarcinoma MONDO:0004128 lung occult large cell carcinoma MONDO:0003050 NCIT:C6685 NCIT:C4450 lung large cell carcinoma MONDO:0004129 cloacogenic carcinoma MONDO:0007108 NCIT:C8255 NCIT:C7489 anal canal carcinoma MONDO:0004130 anus basaloid carcinoma MONDO:0003486 NCIT:C8256 NCIT:C54244 basaloid squamous cell carcinoma MONDO:0004130 anus basaloid carcinoma MONDO:0006082 NCIT:C8256 NCIT:C9161 anal squamous cell carcinoma MONDO:0004131 anal verrucous carcinoma MONDO:0006082 NCIT:C7470 NCIT:C9161 anal squamous cell carcinoma MONDO:0004132 anal canal squamous cell carcinoma MONDO:0006082 NCIT:C7469 NCIT:C9161 anal squamous cell carcinoma MONDO:0004132 anal canal squamous cell carcinoma MONDO:0007108 NCIT:C7469 NCIT:C7489 anal canal carcinoma MONDO:0004136 ovarian endometrioid cystadenoma MONDO:0005183 NCIT:C40075 NCIT:C4060 ovarian cystadenoma MONDO:0004142 lung combined large cell neuroendocrine carcinoma MONDO:0003960 NCIT:C7267 NCIT:C5672 pulmonary large cell neuroendocrine carcinoma MONDO:0004142 lung combined large cell neuroendocrine carcinoma MONDO:0006167 NCIT:C7267 NCIT:C7591 combined lung carcinoma MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma MONDO:0002518 NCIT:C5743 NCIT:C7130 gallbladder papillary neoplasm MONDO:0004148 gallbladder papillary neoplasm with an associated invasive carcinoma MONDO:0006215 NCIT:C5743 NCIT:C9166 gallbladder adenocarcinoma MONDO:0004150 breast giant fibroadenoma MONDO:0002056 NCIT:C4273 NCIT:C3744 breast fibroadenoma MONDO:0004152 chronic lymphocytic leukemia/small lymphocytic lymphoma with immunoglobulin heavy chain variable-region gene somatic hypermutation MONDO:0003864 NCIT:C37201 NCIT:C27911 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004153 childhood central nervous system embryonal carcinoma MONDO:0003750 NCIT:C6208 NCIT:C6205 childhood central nervous system germ cell tumor MONDO:0004153 childhood central nervous system embryonal carcinoma MONDO:0018843 NCIT:C6208 NCIT:C7010 embryonal carcinoma of the central nervous system MONDO:0004155 adult central nervous system embryonal carcinoma MONDO:0003405 NCIT:C5790 NCIT:C6285 adult central nervous system germ cell tumor MONDO:0004155 adult central nervous system embryonal carcinoma MONDO:0018843 NCIT:C5790 NCIT:C7010 embryonal carcinoma of the central nervous system MONDO:0004161 uterine corpus apoplectic leiomyoma MONDO:0007886 NCIT:C40165 NCIT:C3434 uterine corpus leiomyoma MONDO:0004162 uterine corpus cellular leiomyoma MONDO:0003296 NCIT:C40163 NCIT:C4256 cellular leiomyoma MONDO:0004162 uterine corpus cellular leiomyoma MONDO:0007886 NCIT:C40163 NCIT:C3434 uterine corpus leiomyoma MONDO:0004163 bladder urachal urothelial carcinoma MONDO:0003715 NCIT:C39844 NCIT:C39842 bladder urachal carcinoma MONDO:0004163 bladder urachal urothelial carcinoma MONDO:0005611 NCIT:C39844 NCIT:C39851 bladder transitional cell carcinoma MONDO:0004164 lymphoepithelioma-like acinar prostate adenocarcinoma MONDO:0002493 NCIT:C39885 NCIT:C5596 prostatic acinar adenocarcinoma MONDO:0004166 hereditary fallopian tube carcinoma MONDO:0006206 NCIT:C40455 NCIT:C3867 fallopian tube carcinoma MONDO:0004168 cribriform variant testicular seminoma MONDO:0003669 NCIT:C40957 NCIT:C7328 testicular seminoma MONDO:0004174 secretory uterine corpus endometrioid adenocarcinoma MONDO:0006192 NCIT:C27839 NCIT:C6287 endometrial endometrioid adenocarcinoma MONDO:0004176 childhood extraosseous osteosarcoma MONDO:0002621 NCIT:C27376 NCIT:C8810 extraosseous osteosarcoma MONDO:0004176 childhood extraosseous osteosarcoma MONDO:0002623 NCIT:C27376 NCIT:C6585 pediatric osteosarcoma MONDO:0004177 benign urethral neoplasm MONDO:0004180 NCIT:C3619 NCIT:C192667 benign urinary system neoplasm MONDO:0004177 benign urethral neoplasm MONDO:0021239 NCIT:C3619 NCIT:C3428 urethra neoplasm MONDO:0004178 testicular yolk sac tumor, endodermal sinus pattern MONDO:0003402 NCIT:C39927 NCIT:C8000 testicular yolk sac tumor MONDO:0004180 benign urinary system neoplasm MONDO:0021066 NCIT:C192667 NCIT:C192666 urinary system neoplasm MONDO:0004180 benign urinary system neoplasm MONDO:0021066 NCIT:C4893 NCIT:C3431 urinary system neoplasm MONDO:0004185 ovarian serous cystadenofibroma MONDO:0003464 NCIT:C40032 NCIT:C8985 cystadenofibroma MONDO:0004185 ovarian serous cystadenofibroma MONDO:0006340 NCIT:C40032 NCIT:C40031 ovarian serous adenofibroma MONDO:0004188 iris spindle cell melanoma MONDO:0003744 NCIT:C6098 NCIT:C7986 spindle cell intraocular melanoma MONDO:0004188 iris spindle cell melanoma MONDO:0004064 NCIT:C6098 NCIT:C9088 iris melanoma MONDO:0004192 urethra cancer MONDO:0006295 NCIT:C7507 NCIT:C192668 malignant urinary system neoplasm MONDO:0004192 urethra cancer MONDO:0021239 NCIT:C7507 NCIT:C3428 urethra neoplasm MONDO:0004193 pediatric ovarian dysgerminoma MONDO:0003481 NCIT:C6550 NCIT:C8106 dysgerminoma of ovary MONDO:0004196 rectal sarcomatoid carcinoma MONDO:0044937 NCIT:C5556 NCIT:C9382 rectal carcinoma MONDO:0004197 male urethral cancer MONDO:0004192 NCIT:C39867 NCIT:C7507 urethra cancer MONDO:0004198 testicular yolk sac tumor, solid pattern MONDO:0003402 NCIT:C39925 NCIT:C8000 testicular yolk sac tumor MONDO:0004199 vulvar keratinizing squamous cell carcinoma MONDO:0005056 NCIT:C40284 NCIT:C4105 keratinizing squamous cell carcinoma MONDO:0004199 vulvar keratinizing squamous cell carcinoma MONDO:0024609 NCIT:C40284 NCIT:C4052 vulvar squamous cell carcinoma MONDO:0004203 female urethral cancer MONDO:0004192 NCIT:C39866 NCIT:C7507 urethra cancer MONDO:0004205 lymphohistiocytoid mesothelioma MONDO:0006407 NCIT:C27779 NCIT:C45655 sarcomatoid mesothelioma MONDO:0004209 cerebral primitive neuroectodermal tumor MONDO:0002731 NCIT:C4970 NCIT:C4577 cerebral hemisphere cancer MONDO:0004209 cerebral primitive neuroectodermal tumor MONDO:0003145 NCIT:C4970 NCIT:C6968 supratentorial primitive neuroectodermal tumor MONDO:0004210 colonic L-cell glucagon-like peptide producing tumor MONDO:0015067 NCIT:C27447 NCIT:C135212 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0004211 L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO:0000386 NCIT:C27448 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0004213 vulvar non-keratinizing squamous cell carcinoma MONDO:0024609 NCIT:C40285 NCIT:C4052 vulvar squamous cell carcinoma MONDO:0004214 ovarian endometrioid cystadenofibroma MONDO:0003463 NCIT:C27288 NCIT:C27287 ovarian endometrioid adenofibroma MONDO:0004214 ovarian endometrioid cystadenofibroma MONDO:0003464 NCIT:C27288 NCIT:C8985 cystadenofibroma MONDO:0004216 pineal region germinoma MONDO:0002073 NCIT:C8712 NCIT:C6767 malignant pineal area germ cell neoplasm MONDO:0004216 pineal region germinoma MONDO:0002214 NCIT:C8712 NCIT:C6284 brain germinoma MONDO:0004217 childhood brain germinoma MONDO:0002214 NCIT:C6207 NCIT:C6284 brain germinoma MONDO:0004217 childhood brain germinoma MONDO:0004452 NCIT:C6207 NCIT:C27406 childhood central nervous system germinoma MONDO:0004218 childhood germ cell brain tumor MONDO:0003750 NCIT:C5795 NCIT:C6205 childhood central nervous system germ cell tumor MONDO:0004219 polyvesicular vitelline pattern testicular yolk sac tumor MONDO:0003402 NCIT:C39930 NCIT:C8000 testicular yolk sac tumor MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells MONDO:0006192 NCIT:C27850 NCIT:C6287 endometrial endometrioid adenocarcinoma MONDO:0004221 uterine corpus perivascular epithelioid cell tumor MONDO:0004526 NCIT:C40180 NCIT:C40179 mixed endometrial stromal and smooth muscle tumor MONDO:0004221 uterine corpus perivascular epithelioid cell tumor MONDO:0006359 NCIT:C40180 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0004222 ovarian clear cell cystadenocarcinoma MONDO:0002702 NCIT:C7980 NCIT:C5228 ovarian cystadenocarcinoma MONDO:0004222 ovarian clear cell cystadenocarcinoma MONDO:0006045 NCIT:C7980 NCIT:C40078 ovarian clear cell adenocarcinoma MONDO:0004227 epididymal adenomatoid tumor MONDO:0021473 NCIT:C6382 NCIT:C3614 benign neoplasm of epididymis MONDO:0004229 acantholytic variant squamous cell breast carcinoma MONDO:0006056 NCIT:C40359 NCIT:C5177 squamous cell breast carcinoma MONDO:0004231 spindle cell variant squamous cell breast carcinoma MONDO:0006056 NCIT:C40358 NCIT:C5177 squamous cell breast carcinoma MONDO:0004231 spindle cell variant squamous cell breast carcinoma MONDO:0021663 NCIT:C40358 NCIT:C27084 sarcomatoid squamous cell carcinoma MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma MONDO:0005056 NCIT:C40357 NCIT:C4105 keratinizing squamous cell carcinoma MONDO:0004232 large cell keratinizing variant squamous cell breast carcinoma MONDO:0006056 NCIT:C40357 NCIT:C5177 squamous cell breast carcinoma MONDO:0004233 childhood pleomorphic rhabdomyosarcoma MONDO:0017386 NCIT:C7959 NCIT:C4258 pleomorphic rhabdomyosarcoma MONDO:0004234 chronic lymphoproliferative disorder of NK-cells MONDO:0005169 NCIT:C39591 NCIT:C27909 neoplasm of mature T-cells or NK-cells MONDO:0004236 duodenal somatostatinoma MONDO:0015063 NCIT:C27407 NCIT:C135080 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0004237 large cell carcinoma with rhabdoid phenotype MONDO:0003050 NCIT:C6876 NCIT:C4450 lung large cell carcinoma MONDO:0004239 cervical keratinizing squamous cell carcinoma MONDO:0005056 NCIT:C40187 NCIT:C4105 keratinizing squamous cell carcinoma MONDO:0004239 cervical keratinizing squamous cell carcinoma MONDO:0006143 NCIT:C40187 NCIT:C4028 cervical squamous cell carcinoma MONDO:0004240 posterior urethra cancer MONDO:0004192 NCIT:C7640 NCIT:C7507 urethra cancer MONDO:0004243 vulvar proximal-type epithelioid sarcoma MONDO:0004244 NCIT:C40319 NCIT:C27472 proximal-type epithelioid sarcoma MONDO:0004244 proximal-type epithelioid sarcoma MONDO:0017387 NCIT:C27472 NCIT:C3714 epithelioid sarcoma MONDO:0004248 pediatric infratentorial ependymoma MONDO:0002915 NCIT:C9041 NCIT:C5802 childhood infratentorial neoplasm MONDO:0004249 pediatric supratentorial ependymoma MONDO:0003478 NCIT:C9043 NCIT:C8578 childhood ependymoma MONDO:0004250 extrahepatic bile duct papillary adenoma MONDO:0002533 NCIT:C5849 NCIT:C79951 papillary adenoma MONDO:0004250 extrahepatic bile duct papillary adenoma MONDO:0003445 NCIT:C5849 NCIT:C5857 extrahepatic bile duct adenoma MONDO:0004251 small intestine neoplasm MONDO:0021118 NCIT:C4432 NCIT:C3141 intestinal neoplasm MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor MONDO:0002995 NCIT:C27452 NCIT:C96061 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0004252 small intestinal L-cell glucagon-like peptide producing tumor MONDO:0004211 NCIT:C27452 NCIT:C27448 L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO:0004253 intraductal breast papillomatosis MONDO:0021099 NCIT:C5201 NCIT:C7363 intraductal papillomatosis MONDO:0004255 Wolffian adnexal tumor MONDO:0005626 NCIT:C40141 NCIT:C3709 epithelial neoplasm MONDO:0004256 lumbar spinal canal and spinal cord meningioma MONDO:0001279 NCIT:C5298 NCIT:C5134 intraspinal meningioma MONDO:0004257 childhood central nervous system mixed germ cell tumor MONDO:0003750 NCIT:C27403 NCIT:C6205 childhood central nervous system germ cell tumor MONDO:0004257 childhood central nervous system mixed germ cell tumor MONDO:0016742 NCIT:C27403 NCIT:C7016 mixed germ cell tumor of central nervous system MONDO:0004261 periductal breast myoepitheliosis MONDO:0004262 NCIT:C40388 NCIT:C40385 breast myoepitheliosis MONDO:0004262 breast myoepitheliosis MONDO:0002483 NCIT:C40385 NCIT:C40389 breast myoepithelial tumor MONDO:0004263 pediatric infratentorial ependymoblastoma MONDO:0002915 NCIT:C6773 NCIT:C5802 childhood infratentorial neoplasm MONDO:0004263 pediatric infratentorial ependymoblastoma MONDO:0003107 NCIT:C6773 NCIT:C4966 infratentorial cancer MONDO:0004267 squamous papillomatosis MONDO:0021098 NCIT:C9009 NCIT:C3713 papillomatosis MONDO:0004270 breast ductal adenoma MONDO:0002058 NCIT:C40384 NCIT:C40382 breast adenoma MONDO:0004273 breast apocrine adenoma MONDO:0002058 NCIT:C40383 NCIT:C40382 breast adenoma MONDO:0004274 mixed epithelial/mesenchymal metaplastic breast carcinoma MONDO:0006043 NCIT:C40364 NCIT:C5164 metaplastic breast carcinoma MONDO:0004276 ceruminoma MONDO:0002804 NCIT:C6088 NCIT:C4168 apocrine adenoma MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant MONDO:0003890 NCIT:C39824 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004281 vulvar eccrine porocarcinoma MONDO:0003861 NCIT:C40306 NCIT:C40305 vulvar eccrine adenocarcinoma MONDO:0004281 vulvar eccrine porocarcinoma MONDO:0006189 NCIT:C40306 NCIT:C5560 eccrine porocarcinoma MONDO:0004283 vulvar clear cell hidradenocarcinoma MONDO:0006245 NCIT:C40307 NCIT:C54664 hidradenocarcinoma MONDO:0004287 pancreatic foamy gland adenocarcinoma MONDO:0005184 NCIT:C37256 NCIT:C9120 pancreatic ductal adenocarcinoma MONDO:0004288 scirrhous breast carcinoma MONDO:0004953 NCIT:C7362 NCIT:C4194 invasive ductal breast carcinoma MONDO:0004289 glottis verrucous carcinoma MONDO:0002766 NCIT:C8189 NCIT:C8188 larynx verrucous carcinoma MONDO:0004289 glottis verrucous carcinoma MONDO:0004080 NCIT:C8189 NCIT:C8186 glottis squamous cell carcinoma MONDO:0004290 subglottis verrucous carcinoma MONDO:0002766 NCIT:C8190 NCIT:C8188 larynx verrucous carcinoma MONDO:0004290 subglottis verrucous carcinoma MONDO:0004291 NCIT:C8190 NCIT:C8187 subglottis squamous cell carcinoma MONDO:0004291 subglottis squamous cell carcinoma MONDO:0004358 NCIT:C8187 NCIT:C5972 subglottis carcinoma MONDO:0004291 subglottis squamous cell carcinoma MONDO:0005595 NCIT:C8187 NCIT:C4044 laryngeal squamous cell carcinoma MONDO:0004292 supraglottis verrucous carcinoma MONDO:0002766 NCIT:C8191 NCIT:C8188 larynx verrucous carcinoma MONDO:0004292 supraglottis verrucous carcinoma MONDO:0004293 NCIT:C8191 NCIT:C4945 supraglottis squamous cell carcinoma MONDO:0004293 supraglottis squamous cell carcinoma MONDO:0004357 NCIT:C4945 NCIT:C5973 carcinoma of supraglottis MONDO:0004293 supraglottis squamous cell carcinoma MONDO:0005595 NCIT:C4945 NCIT:C4044 laryngeal squamous cell carcinoma MONDO:0004294 gestational ovarian choriocarcinoma MONDO:0003507 NCIT:C40442 NCIT:C4515 choriocarcinoma of ovary MONDO:0004294 gestational ovarian choriocarcinoma MONDO:0020550 NCIT:C40442 NCIT:C4646 gestational choriocarcinoma MONDO:0004295 asbestos-related lung carcinoma MONDO:0005138 NCIT:C27925 NCIT:C4878 lung carcinoma MONDO:0004296 cervical lymphoepithelioma-like carcinoma MONDO:0003572 NCIT:C40193 NCIT:C4107 nasopharyngeal type undifferentiated carcinoma MONDO:0004296 cervical lymphoepithelioma-like carcinoma MONDO:0006143 NCIT:C40193 NCIT:C4028 cervical squamous cell carcinoma MONDO:0004297 lymphoepithelioma-like thymic carcinoma MONDO:0003572 NCIT:C7998 NCIT:C4107 nasopharyngeal type undifferentiated carcinoma MONDO:0004297 lymphoepithelioma-like thymic carcinoma MONDO:0006451 NCIT:C7998 NCIT:C7569 thymic carcinoma MONDO:0004299 infiltrating bladder lymphoepithelioma-like carcinoma MONDO:0003890 NCIT:C39821 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004301 fibrosarcomatous osteosarcoma MONDO:0002631 NCIT:C4020 NCIT:C35870 conventional osteosarcoma MONDO:0004302 chief cell adenoma MONDO:0006890 NCIT:C4154 NCIT:C156757 parathyroid gland adenoma MONDO:0004303 parathyroid gland clear cell adenoma MONDO:0003426 NCIT:C7993 NCIT:C4151 clear cell adenoma MONDO:0004303 parathyroid gland clear cell adenoma MONDO:0006890 NCIT:C7993 NCIT:C156757 parathyroid gland adenoma MONDO:0004304 mixed cell type adenoma of parathyroid MONDO:0003421 NCIT:C7994 NCIT:C4157 mixed cell adenoma MONDO:0004304 mixed cell type adenoma of parathyroid MONDO:0006890 NCIT:C7994 NCIT:C156757 parathyroid gland adenoma MONDO:0004305 parathyroid oncocytic adenoma MONDO:0003424 NCIT:C27393 NCIT:C3759 oncocytic adenoma MONDO:0004305 parathyroid oncocytic adenoma MONDO:0006890 NCIT:C27393 NCIT:C156757 parathyroid gland adenoma MONDO:0004306 childhood intracortical osteosarcoma MONDO:0002631 NCIT:C6590 NCIT:C35870 conventional osteosarcoma MONDO:0004307 sarcomatosis of the meninges MONDO:0004308 NCIT:C4334 NCIT:C4073 meningeal sarcoma MONDO:0004307 sarcomatosis of the meninges MONDO:0004309 NCIT:C4334 NCIT:C4243 sarcomatosis MONDO:0004308 meningeal sarcoma MONDO:0002217 NCIT:C4073 NCIT:C5153 central nervous system sarcoma MONDO:0004308 meningeal sarcoma MONDO:0021322 NCIT:C4073 NCIT:C4628 malignant tumor of meninges MONDO:0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered MONDO:0016715 NCIT:C8290 NCIT:C4915 ependymoblastoma MONDO:0004314 malignant cutaneous granular cell skin tumor MONDO:0002291 NCIT:C5614 NCIT:C5617 cutaneous granular cell tumor MONDO:0004314 malignant cutaneous granular cell skin tumor MONDO:0003252 NCIT:C5614 NCIT:C4336 granular cell cancer MONDO:0004314 malignant cutaneous granular cell skin tumor MONDO:0003363 NCIT:C5614 NCIT:C4574 malignant dermis tumor MONDO:0004315 cholangiolocellular carcinoma MONDO:0003210 NCIT:C41617 NCIT:C35417 intrahepatic cholangiocarcinoma MONDO:0004316 acantholytic squamous cell skin carcinoma MONDO:0002529 NCIT:C4460 NCIT:C4819 skin squamous cell carcinoma MONDO:0004316 acantholytic squamous cell skin carcinoma MONDO:0005056 NCIT:C4460 NCIT:C4105 keratinizing squamous cell carcinoma MONDO:0004317 multiple spinal canal and spinal cord meningioma MONDO:0001279 NCIT:C5275 NCIT:C5134 intraspinal meningioma MONDO:0004318 pulmonary type ovarian small cell carcinoma MONDO:0003795 NCIT:C40440 NCIT:C27390 ovarian small cell carcinoma MONDO:0004319 hypercalcemic type ovarian small cell carcinoma MONDO:0003795 NCIT:C40439 NCIT:C27390 ovarian small cell carcinoma MONDO:0004320 adult infiltrating astrocytic neoplasm MONDO:0002503 NCIT:C8289 NCIT:C7049 adult astrocytic tumor MONDO:0004321 endometrial mixed adenocarcinoma MONDO:0005461 NCIT:C40153 NCIT:C7359 endometrium adenocarcinoma MONDO:0004322 non-gestational ovarian choriocarcinoma MONDO:0003507 NCIT:C39991 NCIT:C4515 choriocarcinoma of ovary MONDO:0004324 testicular fibroma MONDO:0005167 NCIT:C39951 NCIT:C3041 fibroma MONDO:0004325 testicular thecoma MONDO:0037252 NCIT:C39952 NCIT:C3405 thecoma MONDO:0004326 sphenoid sinus inverted papilloma MONDO:0004327 NCIT:C6841 NCIT:C6838 sphenoid sinus Schneiderian papilloma MONDO:0004327 sphenoid sinus Schneiderian papilloma MONDO:0006353 NCIT:C6838 NCIT:C6835 paranasal sinus Schneiderian papilloma MONDO:0004327 sphenoid sinus Schneiderian papilloma MONDO:0021477 NCIT:C6838 NCIT:C4422 benign neoplasm of sphenoidal sinus MONDO:0004328 maxillary sinus adenocarcinoma MONDO:0001748 NCIT:C6240 NCIT:C9332 maxillary sinus carcinoma MONDO:0004329 pancreatic intraductal papillary-mucinous neoplasm with high grade dysplasia MONDO:0004286 NCIT:C41251 NCIT:C38342 pancreatic intraductal papillary-mucinous neoplasm MONDO:0004330 leptomeningeal sarcoma MONDO:0003762 NCIT:C8312 NCIT:C8506 malignant leptomeningeal tumor MONDO:0004330 leptomeningeal sarcoma MONDO:0004308 NCIT:C8312 NCIT:C4073 meningeal sarcoma MONDO:0004331 bladder urachal adenocarcinoma MONDO:0002751 NCIT:C39843 NCIT:C4032 bladder adenocarcinoma MONDO:0004331 bladder urachal adenocarcinoma MONDO:0003715 NCIT:C39843 NCIT:C39842 bladder urachal carcinoma MONDO:0004332 lung hilum cancer MONDO:0003639 NCIT:C4566 NCIT:C5671 lung hilum neoplasm MONDO:0004332 lung hilum cancer MONDO:0008903 NCIT:C4566 NCIT:C7377 lung cancer MONDO:0004334 non-functional pancreatic neuroendocrine tumor MONDO:0019954 NCIT:C45837 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0004334 non-functional pancreatic neuroendocrine tumor MONDO:0021119 NCIT:C45837 NCIT:C94760 non-functioning endocrine neoplasm MONDO:0004336 rectal signet ring cell adenocarcinoma MONDO:0002169 NCIT:C9168 NCIT:C9383 rectum adenocarcinoma MONDO:0004336 rectal signet ring cell adenocarcinoma MONDO:0044336 NCIT:C9168 NCIT:C43586 colorectal signet ring cell carcinoma MONDO:0004337 perianal skin Paget disease MONDO:0002651 NCIT:C7476 NCIT:C5598 anal Paget disease MONDO:0004337 perianal skin Paget disease MONDO:0002941 NCIT:C7476 NCIT:C7472 anal margin carcinoma MONDO:0004341 colloid carcinoma of the pancreas MONDO:0004957 NCIT:C37214 NCIT:C26712 mucinous adenocarcinoma MONDO:0004341 colloid carcinoma of the pancreas MONDO:0005184 NCIT:C37214 NCIT:C9120 pancreatic ductal adenocarcinoma MONDO:0004343 pancreatic acinar cell cystadenocarcinoma MONDO:0002867 NCIT:C5727 NCIT:C3874 pancreatic cystadenocarcinoma MONDO:0004343 pancreatic acinar cell cystadenocarcinoma MONDO:0006346 NCIT:C5727 NCIT:C7977 pancreatic acinar cell carcinoma MONDO:0004344 childhood malignant hemangiopericytoma MONDO:0009330 NCIT:C8090 NCIT:C4301 hemangiopericytoma, malignant MONDO:0004345 childhood malignant schwannoma MONDO:0017827 NCIT:C8094 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0004346 signet ring cell intrahepatic cholangiocarcinoma MONDO:0003210 NCIT:C41619 NCIT:C35417 intrahepatic cholangiocarcinoma MONDO:0004349 retina lymphoma MONDO:0003072 NCIT:C4365 NCIT:C3216 retinal cancer MONDO:0004350 pediatric extraocular retinoblastoma MONDO:0003078 NCIT:C9048 NCIT:C7848 extraocular retinoblastoma MONDO:0004351 intraocular lymphoma MONDO:0004034 NCIT:C9184 NCIT:C35690 eye lymphoma MONDO:0004353 extrahepatic biliary papillomatosis MONDO:0003455 NCIT:C7124 NCIT:C6881 bile duct papillary neoplasm MONDO:0004355 childhood leukemia MONDO:0005059 NCIT:C4989 NCIT:C3161 leukemia MONDO:0004355 childhood leukemia MONDO:0006517 NCIT:C4989 NCIT:C4005 childhood malignant neoplasm MONDO:0004356 childhood multilocular cystic kidney neoplasm MONDO:0002730 NCIT:C6566 NCIT:C6563 childhood kidney neoplasm MONDO:0004357 carcinoma of supraglottis MONDO:0001724 NCIT:C5973 NCIT:C3545 supraglottis cancer MONDO:0004357 carcinoma of supraglottis MONDO:0002358 NCIT:C5973 NCIT:C4855 laryngeal carcinoma MONDO:0004358 subglottis carcinoma MONDO:0001293 NCIT:C5972 NCIT:C3546 subglottis cancer MONDO:0004358 subglottis carcinoma MONDO:0002358 NCIT:C5972 NCIT:C4855 laryngeal carcinoma MONDO:0004360 breast extraskeletal osteosarcoma MONDO:0002490 NCIT:C5189 NCIT:C4670 breast sarcoma MONDO:0004360 breast extraskeletal osteosarcoma MONDO:0002621 NCIT:C5189 NCIT:C8810 extraosseous osteosarcoma MONDO:0004361 adult spinal cord ependymoma MONDO:0003473 NCIT:C27399 NCIT:C3875 spinal cord ependymoma MONDO:0004363 adult spinal cord glioblastoma MONDO:0020690 NCIT:C27183 NCIT:C9094 adult glioblastoma MONDO:0004364 choroid necrotic melanoma MONDO:0003878 NCIT:C6865 NCIT:C4561 malignant choroid melanoma MONDO:0004364 choroid necrotic melanoma MONDO:0004365 NCIT:C6865 NCIT:C7990 necrotic uveal melanoma MONDO:0004365 necrotic uveal melanoma MONDO:0006486 NCIT:C7990 NCIT:C7712 uveal melanoma MONDO:0004366 mixed astrocytoma-ependymoma-oligodendroglioma MONDO:0003268 NCIT:C8272 NCIT:C3903 mixed glioma MONDO:0004367 petroclival meningioma MONDO:0002998 NCIT:C5278 NCIT:C5272 skull base meningioma MONDO:0004368 sphenoorbital meningioma MONDO:0002998 NCIT:C5285 NCIT:C5272 skull base meningioma MONDO:0004370 sphenocavernous meningioma MONDO:0002998 NCIT:C5313 NCIT:C5272 skull base meningioma MONDO:0004371 spinal multifocal clear cell meningioma MONDO:0002918 NCIT:C5287 NCIT:C4722 clear cell meningioma MONDO:0004373 adult papillary meningioma MONDO:0021088 NCIT:C8293 NCIT:C3904 papillary meningioma MONDO:0004374 adult extraskeletal osteosarcoma MONDO:0002621 NCIT:C7925 NCIT:C8810 extraosseous osteosarcoma MONDO:0004377 pancreatic non-functioning delta cell tumor MONDO:0002994 NCIT:C28333 NCIT:C28396 pancreatic delta cell neuroendocrine tumor MONDO:0004377 pancreatic non-functioning delta cell tumor MONDO:0004334 NCIT:C28333 NCIT:C45837 non-functional pancreatic neuroendocrine tumor MONDO:0004379 female breast carcinoma MONDO:0004989 NCIT:C2918 NCIT:C4872 breast carcinoma MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia MONDO:0004286 NCIT:C41249 NCIT:C38342 pancreatic intraductal papillary-mucinous neoplasm MONDO:0004383 adult central nervous system germinoma MONDO:0002999 NCIT:C5792 NCIT:C7009 central nervous system germinoma MONDO:0004383 adult central nervous system germinoma MONDO:0003405 NCIT:C5792 NCIT:C6285 adult central nervous system germ cell tumor MONDO:0004384 maxillary sinus inverted papilloma MONDO:0004457 NCIT:C6840 NCIT:C6839 maxillary sinus Schneiderian papilloma MONDO:0004386 uterine corpus atypical polypoid adenomyoma MONDO:0003236 NCIT:C40235 NCIT:C6895 atypical polypoid adenomyoma MONDO:0004386 uterine corpus atypical polypoid adenomyoma MONDO:0003237 NCIT:C40235 NCIT:C6338 adenomyoma of uterine corpus MONDO:0004392 intracranial extraskeletal myxoid chondrosarcoma MONDO:0012825 NCIT:C5462 NCIT:C27502 extraskeletal myxoid chondrosarcoma MONDO:0004393 mixed astrocytoma-ependymoma MONDO:0003268 NCIT:C8271 NCIT:C3903 mixed glioma MONDO:0004394 maxillary sinus squamous cell carcinoma MONDO:0001748 NCIT:C6064 NCIT:C9332 maxillary sinus carcinoma MONDO:0004394 maxillary sinus squamous cell carcinoma MONDO:0044705 NCIT:C6064 NCIT:C8193 paranasal sinus squamous cell carcinoma MONDO:0004396 cervical spinal canal and spinal cord meningioma MONDO:0001279 NCIT:C5296 NCIT:C5134 intraspinal meningioma MONDO:0004397 benign mediastinal psammomatous neurilemmoma MONDO:0004398 NCIT:C6636 NCIT:C6643 mediastinal schwannoma MONDO:0004398 mediastinal schwannoma MONDO:0003098 NCIT:C6643 NCIT:C6624 mediastinal neural neoplasm MONDO:0004398 mediastinal schwannoma MONDO:0004820 NCIT:C6643 NCIT:C41430 peripheral nerve schwannoma MONDO:0004398 mediastinal schwannoma MONDO:0021521 NCIT:C6643 NCIT:C3604 benign neoplasm of mediastinum MONDO:0004400 malignant type A thymoma MONDO:0002588 NCIT:C7999 NCIT:C6454 thymoma type A MONDO:0004401 testis refractory cancer MONDO:0003510 NCIT:C9077 NCIT:C9063 malignant testicular germ cell tumor MONDO:0004402 testicular yolk sac tumor, glandular-alveolar pattern MONDO:0003402 NCIT:C39926 NCIT:C8000 testicular yolk sac tumor MONDO:0004403 childhood precursor T-lymphoblastic lymphoma/leukemia MONDO:0003537 NCIT:C5640 NCIT:C8694 precursor T-lymphoblastic lymphoma/leukemia MONDO:0004403 childhood precursor T-lymphoblastic lymphoma/leukemia MONDO:0006517 NCIT:C5640 NCIT:C4005 childhood malignant neoplasm MONDO:0004404 refractory precursor T-lymphoblastic lymphoma/leukemia MONDO:0003537 NCIT:C8696 NCIT:C8694 precursor T-lymphoblastic lymphoma/leukemia MONDO:0004406 adult central nervous system mixed germ cell tumor MONDO:0003405 NCIT:C27402 NCIT:C6285 adult central nervous system germ cell tumor MONDO:0004406 adult central nervous system mixed germ cell tumor MONDO:0016742 NCIT:C27402 NCIT:C7016 mixed germ cell tumor of central nervous system MONDO:0004407 stroma-dominant and stroma-poor composite ganglioneuroblastoma MONDO:0003325 NCIT:C42060 NCIT:C42058 nodular ganglioneuroblastoma MONDO:0004408 schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma MONDO:0003325 NCIT:C42059 NCIT:C42058 nodular ganglioneuroblastoma MONDO:0004410 sarcomatoid penile squamous cell carcinoma MONDO:0021663 NCIT:C6984 NCIT:C27084 sarcomatoid squamous cell carcinoma MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor MONDO:0015063 NCIT:C5731 NCIT:C135080 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0004413 cervical non-keratinizing squamous cell carcinoma MONDO:0006143 NCIT:C40188 NCIT:C4028 cervical squamous cell carcinoma MONDO:0004415 lipid-cell variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39828 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004416 plasmacytoid variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39823 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004417 nested variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39819 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004418 microcystic variant infiltrating bladder urothelial carcinoma MONDO:0003890 NCIT:C39820 NCIT:C27885 infiltrating bladder urothelial carcinoma MONDO:0004420 breast malignant eccrine spiradenoma MONDO:0004412 NCIT:C5180 NCIT:C5117 malignant spiradenoma MONDO:0004421 sclerosing breast papilloma MONDO:0021097 NCIT:C27944 NCIT:C3863 intraductal breast papilloma MONDO:0004422 cerebral falx meningioma MONDO:0002997 NCIT:C5267 NCIT:C5286 anterior cranial fossa meningioma MONDO:0004423 central nervous system extraskeletal osteosarcoma MONDO:0002217 NCIT:C7002 NCIT:C5153 central nervous system sarcoma MONDO:0004423 central nervous system extraskeletal osteosarcoma MONDO:0002621 NCIT:C7002 NCIT:C8810 extraosseous osteosarcoma MONDO:0004426 frontal convexity meningioma MONDO:0003774 NCIT:C5292 NCIT:C4959 cerebral convexity meningioma MONDO:0004427 supraglottis neoplasm MONDO:0021071 NCIT:C6793 NCIT:C3156 laryngeal neoplasm MONDO:0004428 alveoli adenoma MONDO:0003422 NCIT:C4140 NCIT:C4455 lung adenoma MONDO:0004430 penis mixed squamous cell carcinoma MONDO:0018352 NCIT:C39959 NCIT:C7729 squamous cell carcinoma of penis MONDO:0004432 mature pericardial teratoma MONDO:0003517 NCIT:C6744 NCIT:C9015 mature teratoma MONDO:0004433 papillary carcinoma of the penis MONDO:0002979 NCIT:C6983 NCIT:C4102 papillary squamous carcinoma MONDO:0004435 liver fibrosarcoma MONDO:0002397 NCIT:C5832 NCIT:C4437 liver sarcoma MONDO:0004436 ovarian myxoid liposarcoma MONDO:0003589 NCIT:C5235 NCIT:C6419 liposarcoma of the ovary MONDO:0004436 ovarian myxoid liposarcoma MONDO:0013280 NCIT:C5235 NCIT:C27781 myxoid liposarcoma MONDO:0004438 sporadic breast cancer MONDO:0004989 NCIT:C7566 NCIT:C4872 breast carcinoma MONDO:0004440 pineal region meningioma MONDO:0021232 NCIT:C6756 NCIT:C3328 pineal body neoplasm MONDO:0004441 childhood ovarian embryonal carcinoma MONDO:0003581 NCIT:C6546 NCIT:C8108 ovarian embryonal carcinoma MONDO:0004442 testis polyembryoma MONDO:0003510 NCIT:C40962 NCIT:C9063 malignant testicular germ cell tumor MONDO:0004442 testis polyembryoma MONDO:0015863 NCIT:C40962 NCIT:C66776 polyembryoma MONDO:0004443 chest wall parachordoma MONDO:0006351 NCIT:C6720 NCIT:C6581 parachordoma MONDO:0004443 chest wall parachordoma MONDO:0021388 NCIT:C6720 NCIT:C4929 neoplasm of chest wall MONDO:0004444 bladder tubulo-cystic clear cell adenocarcinoma MONDO:0003386 NCIT:C39847 NCIT:C6179 bladder clear cell adenocarcinoma MONDO:0004445 bladder papillary clear cell adenocarcinoma MONDO:0003386 NCIT:C39848 NCIT:C6179 bladder clear cell adenocarcinoma MONDO:0004446 olfactory groove meningioma MONDO:0002997 NCIT:C6771 NCIT:C5286 anterior cranial fossa meningioma MONDO:0004448 frontal sinus inverted papilloma MONDO:0003752 NCIT:C6842 NCIT:C6837 frontal sinus Schneiderian papilloma MONDO:0004449 intraductal breast myoepitheliosis MONDO:0004262 NCIT:C40387 NCIT:C40385 breast myoepitheliosis MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma MONDO:0003210 NCIT:C41620 NCIT:C35417 intrahepatic cholangiocarcinoma MONDO:0004452 childhood central nervous system germinoma MONDO:0002999 NCIT:C27406 NCIT:C7009 central nervous system germinoma MONDO:0004452 childhood central nervous system germinoma MONDO:0003750 NCIT:C27406 NCIT:C6205 childhood central nervous system germ cell tumor MONDO:0004453 testicular yolk sac tumor, myxomatous pattern MONDO:0003402 NCIT:C39929 NCIT:C8000 testicular yolk sac tumor MONDO:0004454 cellular congenital mesoblastic nephroma MONDO:0017043 NCIT:C39815 NCIT:C6569 congenital mesoblastic nephroma MONDO:0004455 classic congenital mesoblastic nephroma MONDO:0017043 NCIT:C39814 NCIT:C6569 congenital mesoblastic nephroma MONDO:0004457 maxillary sinus Schneiderian papilloma MONDO:0006353 NCIT:C6839 NCIT:C6835 paranasal sinus Schneiderian papilloma MONDO:0004457 maxillary sinus Schneiderian papilloma MONDO:0021484 NCIT:C6839 NCIT:C4414 benign neoplasm of maxillary sinus MONDO:0004458 bladder mixed adenocarcinoma MONDO:0002751 NCIT:C39839 NCIT:C4032 bladder adenocarcinoma MONDO:0004459 bladder hepatoid adenocarcinoma MONDO:0002751 NCIT:C39838 NCIT:C4032 bladder adenocarcinoma MONDO:0004459 bladder hepatoid adenocarcinoma MONDO:0006243 NCIT:C39838 NCIT:C66950 hepatoid adenocarcinoma MONDO:0004460 thyroid gland fetal adenoma MONDO:0005032 NCIT:C4160 NCIT:C3502 follicular thyroid adenoma MONDO:0004461 vaginal tubulovillous adenoma MONDO:0003434 NCIT:C40258 NCIT:C40256 vaginal adenoma MONDO:0004462 extrahepatic bile duct cystadenoma MONDO:0003420 NCIT:C5851 NCIT:C4129 bile duct cystadenoma MONDO:0004463 cellular phase chronic idiopathic myelofibrosis MONDO:0009692 NCIT:C41237 NCIT:C2862 primary myelofibrosis MONDO:0004467 mature gastric teratoma MONDO:0003513 NCIT:C5260 NCIT:C5259 gastric teratoma MONDO:0004467 mature gastric teratoma MONDO:0003517 NCIT:C5260 NCIT:C9015 mature teratoma MONDO:0004468 anal canal Paget disease MONDO:0002651 NCIT:C7477 NCIT:C5598 anal Paget disease MONDO:0004468 anal canal Paget disease MONDO:0002735 NCIT:C7477 NCIT:C7471 anal canal adenocarcinoma MONDO:0004469 pseudovascular skin squamous cell carcinoma MONDO:0002529 NCIT:C27542 NCIT:C4819 skin squamous cell carcinoma MONDO:0004469 pseudovascular skin squamous cell carcinoma MONDO:0005056 NCIT:C27542 NCIT:C4105 keratinizing squamous cell carcinoma MONDO:0004472 breast columnar cell mucinous carcinoma MONDO:0002707 NCIT:C40355 NCIT:C9131 breast mucinous carcinoma MONDO:0004473 epiglottis cancer MONDO:0004109 NCIT:C4836 NCIT:C4933 epiglottis neoplasm MONDO:0004473 epiglottis cancer MONDO:0004357 NCIT:C35697 NCIT:C5973 carcinoma of supraglottis MONDO:0004474 gallbladder lymphoma MONDO:0004699 NCIT:C5734 NCIT:C38162 gastrointestinal lymphoma MONDO:0004474 gallbladder lymphoma MONDO:0005411 NCIT:C5734 NCIT:C7481 gallbladder cancer MONDO:0004475 thymus clear cell carcinoma MONDO:0006451 NCIT:C6462 NCIT:C7569 thymic carcinoma MONDO:0004477 adrenal gland ganglioneuroblastoma MONDO:0003327 NCIT:C7646 NCIT:C6594 peripheral ganglioneuroblastoma MONDO:0004478 pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0003864 NCIT:C37204 NCIT:C27911 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO:0004479 malignant childhood germ cell neoplasm MONDO:0003751 NCIT:C6541 NCIT:C7928 childhood germ cell tumor MONDO:0004479 malignant childhood germ cell neoplasm MONDO:0006290 NCIT:C6541 NCIT:C4925 malignant germ cell tumor MONDO:0004479 malignant childhood germ cell neoplasm MONDO:0006517 NCIT:C6541 NCIT:C4005 childhood malignant neoplasm MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma MONDO:0004286 NCIT:C5726 NCIT:C38342 pancreatic intraductal papillary-mucinous neoplasm MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma MONDO:0006047 NCIT:C5726 NCIT:C8294 pancreatic adenocarcinoma MONDO:0004483 thyroid gland oncocytic adenoma MONDO:0003424 NCIT:C6042 NCIT:C3759 oncocytic adenoma MONDO:0004483 thyroid gland oncocytic adenoma MONDO:0005032 NCIT:C6042 NCIT:C3502 follicular thyroid adenoma MONDO:0004484 gallbladder melanoma MONDO:0005411 NCIT:C5735 NCIT:C7481 gallbladder cancer MONDO:0004484 gallbladder melanoma MONDO:0045070 NCIT:C5735 NCIT:C7091 digestive system melanoma MONDO:0004486 endocervical type cervical adenomyoma MONDO:0003238 NCIT:C40232 NCIT:C40231 cervical adenomyoma MONDO:0004487 endometrial type cervical adenomyoma MONDO:0003238 NCIT:C40233 NCIT:C40231 cervical adenomyoma MONDO:0004488 cervical atypical polypoid adenomyoma MONDO:0003238 NCIT:C40234 NCIT:C40231 cervical adenomyoma MONDO:0004489 fallopian tube gestational choriocarcinoma MONDO:0006206 NCIT:C6278 NCIT:C3867 fallopian tube carcinoma MONDO:0004489 fallopian tube gestational choriocarcinoma MONDO:0020550 NCIT:C6278 NCIT:C4646 gestational choriocarcinoma MONDO:0004491 uterine corpus choriocarcinoma MONDO:0020550 NCIT:C27246 NCIT:C4646 gestational choriocarcinoma MONDO:0004493 testicular yolk sac tumor, papillary pattern MONDO:0003402 NCIT:C39928 NCIT:C8000 testicular yolk sac tumor MONDO:0004494 testicular yolk sac tumor, hepatoid pattern MONDO:0003402 NCIT:C39931 NCIT:C8000 testicular yolk sac tumor MONDO:0004498 sacral spinal canal and spinal cord meningioma MONDO:0001279 NCIT:C5299 NCIT:C5134 intraspinal meningioma MONDO:0004499 lung hilum carcinoma MONDO:0004332 NCIT:C7454 NCIT:C4566 lung hilum cancer MONDO:0004499 lung hilum carcinoma MONDO:0005138 NCIT:C7454 NCIT:C4878 lung carcinoma MONDO:0004500 lung superior sulcus carcinoma MONDO:0006883 NCIT:C7779 NCIT:C7527 malignant superior sulcus neoplasm MONDO:0004501 fallopian tube cystadenofibroma MONDO:0003461 NCIT:C40114 NCIT:C40113 fallopian tube serous adenofibroma MONDO:0004501 fallopian tube cystadenofibroma MONDO:0003464 NCIT:C40114 NCIT:C8985 cystadenofibroma MONDO:0004503 upper clivus meningioma MONDO:0003908 NCIT:C5290 NCIT:C5289 clivus meningioma MONDO:0004504 penile urethral cancer MONDO:0004197 NCIT:C39868 NCIT:C39867 male urethral cancer MONDO:0004505 central breast papilloma MONDO:0021097 NCIT:C36087 NCIT:C3863 intraductal breast papilloma MONDO:0004506 microscopic breast papilloma MONDO:0021097 NCIT:C36088 NCIT:C3863 intraductal breast papilloma MONDO:0004507 atypical breast papilloma MONDO:0021097 NCIT:C36089 NCIT:C3863 intraductal breast papilloma MONDO:0004509 intrahepatic biliary papillomatosis MONDO:0003455 NCIT:C7125 NCIT:C6881 bile duct papillary neoplasm MONDO:0004510 inflammatory liposarcoma MONDO:0006097 NCIT:C6508 NCIT:C6505 atypical lipomatous tumor MONDO:0004511 lower clivus meningioma MONDO:0003908 NCIT:C5288 NCIT:C5289 clivus meningioma MONDO:0004513 adult pleomorphic rhabdomyosarcoma MONDO:0017386 NCIT:C27369 NCIT:C4258 pleomorphic rhabdomyosarcoma MONDO:0004516 bulbomembranous urethral cancer MONDO:0004197 NCIT:C39869 NCIT:C39867 male urethral cancer MONDO:0004518 anterior urethra cancer MONDO:0004192 NCIT:C7641 NCIT:C7507 urethra cancer MONDO:0004519 synovial angioma MONDO:0006500 NCIT:C6525 NCIT:C3085 hemangioma MONDO:0004519 synovial angioma MONDO:0024715 NCIT:C6525 NCIT:C3829 benign synovial neoplasm MONDO:0004520 intratubular embryonal carcinoma MONDO:0006446 NCIT:C192096 NCIT:C6341 testicular embryonal carcinoma MONDO:0004521 adult epithelioid sarcoma MONDO:0017387 NCIT:C7944 NCIT:C3714 epithelioid sarcoma MONDO:0004523 clear cell squamous cell skin carcinoma MONDO:0002529 NCIT:C4459 NCIT:C4819 skin squamous cell carcinoma MONDO:0004523 clear cell squamous cell skin carcinoma MONDO:0005056 NCIT:C4459 NCIT:C4105 keratinizing squamous cell carcinoma MONDO:0004526 mixed endometrial stromal and smooth muscle tumor MONDO:0006424 NCIT:C40179 NCIT:C3377 soft tissue neoplasm MONDO:0004526 mixed endometrial stromal and smooth muscle tumor MONDO:0021254 NCIT:C40179 NCIT:C6300 corpus uteri neoplasm MONDO:0004528 lymph node palisaded myofibroblastoma MONDO:0040675 NCIT:C6584 NCIT:C49012 myofibroblastoma MONDO:0004529 non-ossifying fibromyxoid tumor MONDO:0037745 NCIT:C6583 NCIT:C66760 fibromyxoid tumor MONDO:0004530 early invasive cervical adenocarcinoma MONDO:0005153 NCIT:C36096 NCIT:C4029 cervical adenocarcinoma MONDO:0004533 perineural angioma MONDO:0003096 NCIT:C6526 NCIT:C6555 deep hemangioma MONDO:0004535 childhood choriocarcinoma of the ovary MONDO:0004322 NCIT:C6549 NCIT:C39991 non-gestational ovarian choriocarcinoma MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma MONDO:0002742 NCIT:C40203 NCIT:C36095 cervical mucinous adenocarcinoma MONDO:0004537 intestinal variant cervical mucinous adenocarcinoma MONDO:0006254 NCIT:C40203 NCIT:C4126 intestinal type adenocarcinoma MONDO:0004539 aortic malignant tumor MONDO:0040676 NCIT:C5375 NCIT:C4575 great vessel cancer MONDO:0004540 epithelioid malignant peripheral nerve sheath tumor MONDO:0017827 NCIT:C6561 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0004541 pseudoglandular variant testicular seminoma MONDO:0003669 NCIT:C40958 NCIT:C7328 testicular seminoma MONDO:0004542 cervical adenosquamous carcinoma, glassy cell variant MONDO:0006134 NCIT:C40212 NCIT:C4519 cervical adenosquamous carcinoma MONDO:0004543 enteric pattern testicular yolk sac tumor MONDO:0003402 NCIT:C39932 NCIT:C8000 testicular yolk sac tumor MONDO:0004544 chordoid meningioma MONDO:0045056 NCIT:C6908 NCIT:C38937 grade II meningioma MONDO:0004545 adult malignant schwannoma MONDO:0017827 NCIT:C7814 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0004546 lumbar plexus neoplasm MONDO:0003100 NCIT:C5824 NCIT:C5822 nerve plexus neoplasm MONDO:0004547 reticular pattern testicular yolk sac tumor MONDO:0003402 NCIT:C39923 NCIT:C8000 testicular yolk sac tumor MONDO:0004548 adult type testicular granulosa cell tumor MONDO:0003395 NCIT:C39946 NCIT:C6357 testicular granulosa cell tumor MONDO:0004550 malignant cornea melanoma MONDO:0003802 NCIT:C4553 NCIT:C3565 cornea cancer MONDO:0004550 malignant cornea melanoma MONDO:0006325 NCIT:C4553 NCIT:C8562 ocular melanoma MONDO:0004552 microinvasive cervical squamous cell carcinoma MONDO:0006143 NCIT:C36094 NCIT:C4028 cervical squamous cell carcinoma MONDO:0004554 childhood kidney angiomyolipoma MONDO:0002730 NCIT:C6565 NCIT:C6563 childhood kidney neoplasm MONDO:0004554 childhood kidney angiomyolipoma MONDO:0004555 NCIT:C6565 NCIT:C3888 kidney angiomyolipoma MONDO:0004555 kidney angiomyolipoma MONDO:0002603 NCIT:C3888 NCIT:C3734 angiomyolipoma MONDO:0004556 carcinoma arising in nasal papillomatosis MONDO:0003212 NCIT:C27389 NCIT:C9336 nasal cavity carcinoma MONDO:0004557 congenital fibrosarcoma MONDO:0002678 NCIT:C4244 NCIT:C8088 pediatric fibrosarcoma MONDO:0004558 thyroid gland macrofollicular adenoma MONDO:0005032 NCIT:C4161 NCIT:C3502 follicular thyroid adenoma MONDO:0004559 malignant glandular tumor of peripheral nerve sheath MONDO:0017827 NCIT:C6560 NCIT:C3798 malignant peripheral nerve sheath tumor MONDO:0004561 retinal melanoma MONDO:0003072 NCIT:C8601 NCIT:C3216 retinal cancer MONDO:0004561 retinal melanoma MONDO:0006325 NCIT:C8601 NCIT:C8562 ocular melanoma MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0009348 NCIT:C6913 NCIT:C7164 classic Hodgkin lymphoma MONDO:0004608 oropharynx cancer MONDO:0005517 NCIT:C7398 NCIT:C7545 pharynx cancer MONDO:0004608 oropharynx cancer MONDO:0021364 NCIT:C7398 NCIT:C3291 neoplasm of oropharynx MONDO:0004611 soft palate cancer MONDO:0004608 NCIT:C3529 NCIT:C7398 oropharynx cancer MONDO:0004624 uvula cancer MONDO:0004611 NCIT:C35177 NCIT:C3529 soft palate cancer MONDO:0004631 tongue cancer MONDO:0005515 NCIT:C9345 NCIT:C9314 oral cavity cancer MONDO:0004631 tongue cancer MONDO:0021240 NCIT:C9345 NCIT:C3416 tongue neoplasm MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:0009348 NCIT:C3517 NCIT:C7164 classic Hodgkin lymphoma MONDO:0004635 postcricoid region cancer MONDO:0005806 NCIT:C9323 NCIT:C7190 hypopharynx cancer MONDO:0004636 lip carcinoma in situ MONDO:0021333 NCIT:C4588 NCIT:C3490 carcinoma of lip MONDO:0004641 skin carcinoma in situ MONDO:0002656 NCIT:C3640 NCIT:C4914 skin carcinoma MONDO:0004641 skin carcinoma in situ MONDO:0004647 NCIT:C3640 NCIT:C2917 in situ carcinoma MONDO:0004643 myeloid leukemia MONDO:0005059 NCIT:C3172 NCIT:C3161 leukemia MONDO:0004645 cheek mucosa cancer MONDO:0005515 NCIT:C9320 NCIT:C9314 oral cavity cancer MONDO:0004645 cheek mucosa cancer MONDO:0021241 NCIT:C9320 NCIT:C4405 buccal mucosa neoplasm MONDO:0004647 in situ carcinoma MONDO:0004993 NCIT:C2917 NCIT:C2916 carcinoma MONDO:0004647 in situ carcinoma MONDO:0021074 NCIT:C2917 NCIT:C3341 precancerous condition MONDO:0004650 malignant carotid body paraganglioma MONDO:0021053 NCIT:C3574 NCIT:C2932 carotid body paraganglioma MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:0006311 NCIT:C3519 NCIT:C27262 myelodysplastic/myeloproliferative neoplasm MONDO:0004658 breast carcinoma in situ MONDO:0004647 NCIT:C3641 NCIT:C2917 in situ carcinoma MONDO:0004660 lung carcinoma in situ MONDO:0004647 NCIT:C27467 NCIT:C2917 in situ carcinoma MONDO:0004661 trachea carcinoma in situ MONDO:0001419 NCIT:C3639 NCIT:C4448 trachea squamous cell carcinoma MONDO:0004661 trachea carcinoma in situ MONDO:0004693 NCIT:C3639 NCIT:C27093 squamous carcinoma in situ MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma MONDO:0009348 NCIT:C3518 NCIT:C7164 classic Hodgkin lymphoma MONDO:0004667 sublingual gland cancer MONDO:0021242 NCIT:C3527 NCIT:C3392 sublingual gland neoplasm MONDO:0004667 sublingual gland cancer MONDO:0044743 NCIT:C3527 NCIT:C4762 major salivary gland cancer MONDO:0004669 salivary gland cancer MONDO:0005627 NCIT:C3811 NCIT:C4013 head and neck cancer MONDO:0004669 salivary gland cancer MONDO:0021357 NCIT:C3811 NCIT:C3361 tumor of salivary gland MONDO:0004671 penis carcinoma in situ MONDO:0004693 NCIT:C27790 NCIT:C27093 squamous carcinoma in situ MONDO:0004671 penis carcinoma in situ MONDO:0018352 NCIT:C27790 NCIT:C7729 squamous cell carcinoma of penis MONDO:0004684 plantar fibromatosis MONDO:0016037 NCIT:C4680 NCIT:C6814 superficial Fibromatosis MONDO:0004693 squamous carcinoma in situ MONDO:0004647 NCIT:C27093 NCIT:C2917 in situ carcinoma MONDO:0004693 squamous carcinoma in situ MONDO:0005096 NCIT:C27093 NCIT:C2929 squamous cell carcinoma MONDO:0004695 liver lymphoma MONDO:0002691 NCIT:C4949 NCIT:C34803 liver cancer MONDO:0004695 liver lymphoma MONDO:0004699 NCIT:C4949 NCIT:C38162 gastrointestinal lymphoma MONDO:0004696 larynx carcinoma in situ MONDO:0004647 NCIT:C9100 NCIT:C2917 in situ carcinoma MONDO:0004699 gastrointestinal lymphoma MONDO:0002516 NCIT:C38162 NCIT:C4890 digestive system cancer MONDO:0004700 parotid gland cancer MONDO:0021243 NCIT:C3525 NCIT:C3314 parotid gland neoplasm MONDO:0004700 parotid gland cancer MONDO:0044743 NCIT:C3525 NCIT:C4762 major salivary gland cancer MONDO:0004703 bladder carcinoma in situ MONDO:0003930 NCIT:C3644 NCIT:C6188 non-invasive bladder urothelial carcinoma MONDO:0004703 bladder carcinoma in situ MONDO:0006111 NCIT:C3644 NCIT:C37266 bladder flat intraepithelial lesion MONDO:0004709 occipital lobe neoplasm MONDO:0021374 NCIT:C5574 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0004724 submandibular gland cancer MONDO:0021244 NCIT:C3526 NCIT:C3393 submandibular gland neoplasm MONDO:0004733 pyriform sinus cancer MONDO:0005806 NCIT:C3531 NCIT:C7190 hypopharynx cancer MONDO:0004749 myocardium cancer MONDO:0001340 NCIT:C4569 NCIT:C3548 heart cancer MONDO:0004749 myocardium cancer MONDO:0021380 NCIT:C4569 NCIT:C5349 neoplasm of myocardium MONDO:0004752 neurofibroma of the heart MONDO:0016755 NCIT:C5359 NCIT:C3272 neurofibroma MONDO:0004756 nasal cavity neoplasm MONDO:0002232 NCIT:C4413 NCIT:C27102 nasal cavity disorder MONDO:0004787 cervical mullerian papilloma MONDO:0000644 NCIT:C40215 NCIT:C3607 cervical benign neoplasm MONDO:0004788 cervix squamous papilloma MONDO:0000644 NCIT:C6342 NCIT:C3607 cervical benign neoplasm MONDO:0004788 cervix squamous papilloma MONDO:0001825 NCIT:C6342 NCIT:C3712 squamous papilloma MONDO:0004815 osteosclerotic plasma cell myeloma MONDO:0009693 NCIT:C7765 NCIT:C3242 plasma cell myeloma MONDO:0004816 refractory plasma cell neoplasm MONDO:0004959 NCIT:C7813 NCIT:C4665 plasma cell neoplasm MONDO:0004817 non-secretory plasma cell myeloma MONDO:0009693 NCIT:C4734 NCIT:C3242 plasma cell myeloma MONDO:0004820 peripheral nerve schwannoma MONDO:0002546 NCIT:C41430 NCIT:C3269 schwannoma MONDO:0004827 esophagus squamous cell papilloma MONDO:0001825 NCIT:C5344 NCIT:C3712 squamous papilloma MONDO:0004832 esophagus leiomyoma MONDO:0021459 NCIT:C3866 NCIT:C3598 benign neoplasm of esophagus MONDO:0004836 intravascular fasciitis MONDO:0004187 NCIT:C4729 NCIT:C3827 nodular fasciitis MONDO:0004837 neurofibroma of the esophagus MONDO:0016755 NCIT:C5704 NCIT:C3272 neurofibroma MONDO:0004942 orbit lymphoma MONDO:0002889 NCIT:C6244 NCIT:C3562 orbital cancer MONDO:0004943 orbit sarcoma MONDO:0002889 NCIT:C6095 NCIT:C3562 orbital cancer MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0001014 NCIT:C3163 NCIT:C3483 chronic leukemia MONDO:0004949 neoplasm of mature B-cells MONDO:0004095 NCIT:C27910 NCIT:C27907 B-cell neoplasm MONDO:0004950 gastric carcinoma MONDO:0001056 NCIT:C4911 NCIT:C9331 gastric cancer MONDO:0004950 gastric carcinoma MONDO:0006181 NCIT:C4911 NCIT:C96963 digestive system carcinoma MONDO:0004952 Hodgkins lymphoma MONDO:0005062 NCIT:C9357 NCIT:C3208 lymphoma MONDO:0004953 invasive ductal breast carcinoma MONDO:0005590 NCIT:C4194 NCIT:C4017 breast ductal adenocarcinoma MONDO:0004953 invasive ductal breast carcinoma MONDO:0006256 NCIT:C4194 NCIT:C9245 invasive breast carcinoma MONDO:0004956 metastatic prostate carcinoma MONDO:0005159 NCIT:C8946 NCIT:C4863 prostate carcinoma MONDO:0004957 mucinous adenocarcinoma MONDO:0004970 NCIT:C26712 NCIT:C2852 adenocarcinoma MONDO:0004958 oral cavity squamous cell carcinoma MONDO:0044710 NCIT:C4833 NCIT:C42690 lip and oral cavity squamous cell carcinoma MONDO:0004958 oral cavity squamous cell carcinoma MONDO:0044925 NCIT:C4833 NCIT:C8990 oral cavity carcinoma MONDO:0004959 plasma cell neoplasm MONDO:0004949 NCIT:C4665 NCIT:C27910 neoplasm of mature B-cells MONDO:0004963 T-cell acute lymphoblastic leukemia MONDO:0004967 NCIT:C3183 NCIT:C3167 acute lymphoblastic leukemia MONDO:0004965 acinar cell carcinoma MONDO:0004970 NCIT:C3768 NCIT:C2852 adenocarcinoma MONDO:0004967 acute lymphoblastic leukemia MONDO:0003538 NCIT:C3167 NCIT:C7055 precursor lymphoblastic lymphoma/leukemia MONDO:0004967 acute lymphoblastic leukemia MONDO:0005402 NCIT:C3167 NCIT:C7539 lymphoid leukemia MONDO:0004967 acute lymphoblastic leukemia MONDO:0010643 NCIT:C3167 NCIT:C9300 acute leukemia MONDO:0004970 adenocarcinoma MONDO:0004993 NCIT:C2852 NCIT:C2916 carcinoma MONDO:0004970 adenocarcinoma MONDO:0024276 NCIT:C2852 NCIT:C7132 glandular cell neoplasm MONDO:0004972 adenoma MONDO:0005626 NCIT:C2855 NCIT:C3709 epithelial neoplasm MONDO:0004973 adenosquamous lung carcinoma MONDO:0006074 NCIT:C9133 NCIT:C3727 adenosquamous carcinoma MONDO:0004974 adrenal gland pheochromocytoma MONDO:0021072 NCIT:C3326 NCIT:C4216 sympathetic paraganglioma MONDO:0004974 adrenal gland pheochromocytoma MONDO:0021237 NCIT:C3326 NCIT:C4856 adrenal medulla neoplasm MONDO:0004986 urinary bladder carcinoma MONDO:0001187 NCIT:C4912 NCIT:C9334 urinary bladder cancer MONDO:0004987 urinary bladder neoplasm MONDO:0006026 NCIT:C2901 NCIT:C2900 urinary bladder disorder MONDO:0004987 urinary bladder neoplasm MONDO:0021066 NCIT:C2901 NCIT:C192666 urinary system neoplasm MONDO:0004988 breast adenocarcinoma MONDO:0004970 NCIT:C5214 NCIT:C2852 adenocarcinoma MONDO:0004988 breast adenocarcinoma MONDO:0004989 NCIT:C5214 NCIT:C4872 breast carcinoma MONDO:0004989 breast carcinoma MONDO:0004993 NCIT:C4872 NCIT:C2916 carcinoma MONDO:0004989 breast carcinoma MONDO:0007254 NCIT:C4872 NCIT:C9335 breast cancer MONDO:0004991 minimally invasive lung adenocarcinoma MONDO:0005061 NCIT:C2923 NCIT:C3512 lung adenocarcinoma MONDO:0004993 carcinoma MONDO:0004992 NCIT:C2916 NCIT:C9305 cancer MONDO:0004993 carcinoma MONDO:0005626 NCIT:C2916 NCIT:C3709 epithelial neoplasm MONDO:0004996 childhood acute myeloid leukemia MONDO:0018874 NCIT:C9160 NCIT:C3171 acute myeloid leukemia MONDO:0004997 chondroblastoma MONDO:0000631 NCIT:C2945 NCIT:C4880 bone benign neoplasm MONDO:0004997 chondroblastoma MONDO:0024470 NCIT:C2945 NCIT:C8592 benign chondrogenic neoplasm MONDO:0005004 clear cell adenocarcinoma MONDO:0004970 NCIT:C3766 NCIT:C2852 adenocarcinoma MONDO:0005005 clear cell renal carcinoma MONDO:0005004 NCIT:C4033 NCIT:C3766 clear cell adenocarcinoma MONDO:0005005 clear cell renal carcinoma MONDO:0005549 NCIT:C4033 NCIT:C9385 renal cell adenocarcinoma MONDO:0005006 clear cell sarcoma of kidney MONDO:0002930 NCIT:C4264 NCIT:C4525 kidney sarcoma MONDO:0005007 colon mucinous adenocarcinoma MONDO:0002271 NCIT:C7966 NCIT:C4349 colon adenocarcinoma MONDO:0005008 colorectal adenocarcinoma MONDO:0004970 NCIT:C5105 NCIT:C2852 adenocarcinoma MONDO:0005008 colorectal adenocarcinoma MONDO:0024331 NCIT:C5105 NCIT:C2955 colorectal carcinoma MONDO:0005012 cutaneous melanoma MONDO:0002898 NCIT:C3510 NCIT:C2920 skin cancer MONDO:0005012 cutaneous melanoma MONDO:0005105 NCIT:C3510 NCIT:C3224 melanoma MONDO:0005012 cutaneous melanoma MONDO:0021583 NCIT:C3510 NCIT:C7161 melanocytic skin neoplasm MONDO:0005013 dedifferentiated chondrosarcoma MONDO:0021054 NCIT:C6476 NCIT:C9312 bone sarcoma MONDO:0005017 diffuse gastric adenocarcinoma MONDO:0005036 NCIT:C9159 NCIT:C4004 gastric adenocarcinoma MONDO:0005017 diffuse gastric adenocarcinoma MONDO:0021652 NCIT:C9159 NCIT:C4127 diffuse type adenocarcinoma MONDO:0005023 ductal breast carcinoma in situ MONDO:0004007 NCIT:C2924 NCIT:C27942 breast intraductal proliferative lesion MONDO:0005023 ductal breast carcinoma in situ MONDO:0004658 NCIT:C2924 NCIT:C3641 breast carcinoma in situ MONDO:0005023 ductal breast carcinoma in situ MONDO:0005590 NCIT:C2924 NCIT:C4017 breast ductal adenocarcinoma MONDO:0005026 endometrioid adenocarcinoma MONDO:0004970 NCIT:C3769 NCIT:C2852 adenocarcinoma MONDO:0005028 esophageal adenocarcinoma MONDO:0004970 NCIT:C4025 NCIT:C2852 adenocarcinoma MONDO:0005028 esophageal adenocarcinoma MONDO:0019086 NCIT:C4025 NCIT:C3513 carcinoma of esophagus MONDO:0005031 fibromatosis MONDO:0006209 NCIT:C3042 NCIT:C7075 fibroblastic neoplasm MONDO:0005032 follicular thyroid adenoma MONDO:0004972 NCIT:C3502 NCIT:C2855 adenoma MONDO:0005032 follicular thyroid adenoma MONDO:0006107 NCIT:C3502 NCIT:C3628 benign thyroid gland neoplasm MONDO:0005033 ganglioneuroma MONDO:0002366 NCIT:C3049 NCIT:C5112 autonomic nervous system neoplasm MONDO:0005034 thyroid gland follicular carcinoma MONDO:0015447 NCIT:C8054 NCIT:C7153 differentiated thyroid carcinoma MONDO:0005035 ganglioneuroblastoma MONDO:0006316 NCIT:C3790 NCIT:C6963 neuroblastic tumor MONDO:0005036 gastric adenocarcinoma MONDO:0004950 NCIT:C4004 NCIT:C4911 gastric carcinoma MONDO:0005036 gastric adenocarcinoma MONDO:0004970 NCIT:C4004 NCIT:C2852 adenocarcinoma MONDO:0005037 gastric intestinal type adenocarcinoma MONDO:0006254 NCIT:C9157 NCIT:C4126 intestinal type adenocarcinoma MONDO:0005048 pancreatic insulin-producing neuroendocrine tumor MONDO:0019954 NCIT:C3140 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0005050 invasive ductal and lobular carcinoma MONDO:0006306 NCIT:C7688 NCIT:C5160 mixed lobular and ductal breast carcinoma MONDO:0005051 invasive lobular breast carcinoma MONDO:0000552 NCIT:C7950 NCIT:C3771 breast lobular carcinoma MONDO:0005051 invasive lobular breast carcinoma MONDO:0006256 NCIT:C7950 NCIT:C9245 invasive breast carcinoma MONDO:0005055 Kaposi's sarcoma MONDO:0015157 NCIT:C9087 NCIT:C27697 human herpesvirus 8-related tumor MONDO:0005056 keratinizing squamous cell carcinoma MONDO:0005096 NCIT:C4105 NCIT:C2929 squamous cell carcinoma MONDO:0005057 large cell neuroendocrine carcinoma MONDO:0002120 NCIT:C6875 NCIT:C3773 neuroendocrine carcinoma MONDO:0005057 large cell neuroendocrine carcinoma MONDO:0005232 NCIT:C6875 NCIT:C3780 large cell carcinoma MONDO:0005058 leiomyosarcoma MONDO:0002924 NCIT:C3158 NCIT:C6511 smooth muscle cancer MONDO:0005059 leukemia MONDO:0044881 NCIT:C3161 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0005061 lung adenocarcinoma MONDO:0005233 NCIT:C3512 NCIT:C2926 non-small cell lung carcinoma MONDO:0005062 lymphoma MONDO:0005157 NCIT:C3208 NCIT:C7065 lymphoid neoplasm MONDO:0005063 medullary breast carcinoma MONDO:0004953 NCIT:C9119 NCIT:C4194 invasive ductal breast carcinoma MONDO:0005067 monophasic synovial sarcoma MONDO:0010434 NCIT:C6534 NCIT:C3400 synovial sarcoma MONDO:0005072 neuroblastoma MONDO:0006316 NCIT:C3270 NCIT:C6963 neuroblastic tumor MONDO:0005074 papillary cystadenocarcinoma MONDO:0002512 NCIT:C3777 NCIT:C2853 papillary adenocarcinoma MONDO:0005074 papillary cystadenocarcinoma MONDO:0005596 NCIT:C3777 NCIT:C2971 cystadenocarcinoma MONDO:0005074 papillary cystadenocarcinoma MONDO:0006349 NCIT:C3777 NCIT:C4179 papillary cystic neoplasm MONDO:0005075 thyroid gland papillary carcinoma MONDO:0002512 NCIT:C4035 NCIT:C2853 papillary adenocarcinoma MONDO:0005075 thyroid gland papillary carcinoma MONDO:0015447 NCIT:C4035 NCIT:C7153 differentiated thyroid carcinoma MONDO:0005078 phyllodes tumor MONDO:0021045 NCIT:C2977 NCIT:C3743 fibroepithelial neoplasm MONDO:0005082 prostate adenocarcinoma MONDO:0004970 NCIT:C2919 NCIT:C2852 adenocarcinoma MONDO:0005085 pterygium MONDO:0006105 NCIT:C133744 NCIT:C3622 benign conjunctival neoplasm MONDO:0005089 sarcoma MONDO:0004992 NCIT:C9118 NCIT:C9305 cancer MONDO:0005092 signet ring cell carcinoma MONDO:0004970 NCIT:C3774 NCIT:C2852 adenocarcinoma MONDO:0005094 hemangiopericytoma MONDO:0002789 NCIT:C3087 NCIT:C7076 hemangiopericytic tumor MONDO:0005096 squamous cell carcinoma MONDO:0002532 NCIT:C2929 NCIT:C3792 squamous cell neoplasm MONDO:0005096 squamous cell carcinoma MONDO:0004993 NCIT:C2929 NCIT:C2916 carcinoma MONDO:0005097 squamous cell lung carcinoma MONDO:0005096 NCIT:C3493 NCIT:C2929 squamous cell carcinoma MONDO:0005097 squamous cell lung carcinoma MONDO:0005138 NCIT:C3493 NCIT:C4878 lung carcinoma MONDO:0005102 undifferentiated (embryonal) sarcoma MONDO:0002397 NCIT:C27096 NCIT:C4437 liver sarcoma MONDO:0005105 melanoma MONDO:0021143 NCIT:C3224 NCIT:C7058 melanocytic neoplasm MONDO:0005106 lipoma MONDO:0044983 NCIT:C3192 NCIT:C4502 benign lipomatous neoplasm MONDO:0005112 malignant pleural mesothelioma MONDO:0003308 NCIT:C7376 NCIT:C9351 pleural mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006292 NCIT:C7376 NCIT:C4456 malignant mesothelioma MONDO:0005112 malignant pleural mesothelioma MONDO:0006294 NCIT:C7376 NCIT:C3547 pleural cancer MONDO:0005131 cervical carcinoma MONDO:0002974 NCIT:C9039 NCIT:C9311 cervical cancer MONDO:0005138 lung carcinoma MONDO:0004993 NCIT:C4878 NCIT:C2916 carcinoma MONDO:0005138 lung carcinoma MONDO:0008903 NCIT:C4878 NCIT:C7377 lung cancer MONDO:0005140 ovarian carcinoma MONDO:0018364 NCIT:C4908 NCIT:C40026 malignant epithelial tumor of ovary MONDO:0005153 cervical adenocarcinoma MONDO:0004970 NCIT:C4029 NCIT:C2852 adenocarcinoma MONDO:0005153 cervical adenocarcinoma MONDO:0005131 NCIT:C4029 NCIT:C9039 cervical carcinoma MONDO:0005157 lymphoid neoplasm MONDO:0044881 NCIT:C7065 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0005159 prostate carcinoma MONDO:0008315 NCIT:C4863 NCIT:C7378 prostate cancer MONDO:0005164 fibrosarcoma MONDO:0006209 NCIT:C3043 NCIT:C7075 fibroblastic neoplasm MONDO:0005166 osteoma MONDO:0000631 NCIT:C3296 NCIT:C4880 bone benign neoplasm MONDO:0005169 neoplasm of mature T-cells or NK-cells MONDO:0024615 NCIT:C27909 NCIT:C27908 T-cell and NK-cell neoplasm MONDO:0005170 myeloid neoplasm MONDO:0044881 NCIT:C9290 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0005177 serous cystadenoma MONDO:0002369 NCIT:C3783 NCIT:C2972 cystadenoma MONDO:0005183 ovarian cystadenoma MONDO:0002369 NCIT:C4060 NCIT:C2972 cystadenoma MONDO:0005184 pancreatic ductal adenocarcinoma MONDO:0006047 NCIT:C9120 NCIT:C8294 pancreatic adenocarcinoma MONDO:0005188 iatrogenic Kaposi's sarcoma MONDO:0005055 NCIT:C35873 NCIT:C9087 Kaposi's sarcoma MONDO:0005191 metastatic melanoma MONDO:0005105 NCIT:C8925 NCIT:C3224 melanoma MONDO:0005192 exocrine pancreatic carcinoma MONDO:0002116 NCIT:C3850 NCIT:C7430 malignant exocrine pancreas neoplasm MONDO:0005193 prostate intraepithelial neoplasia MONDO:0021259 NCIT:C4064 NCIT:C3343 prostate neoplasm MONDO:0005197 thymus neoplasm MONDO:0003393 NCIT:C3412 NCIT:C26962 thymus gland disorder MONDO:0005198 vulvar intraepithelial neoplasia MONDO:0002195 NCIT:C4756 NCIT:C40283 vulvar squamous neoplasm MONDO:0005206 renal carcinoma MONDO:0002367 NCIT:C9384 NCIT:C7548 kidney cancer MONDO:0005207 choriocarcinoma MONDO:0002872 NCIT:C2948 NCIT:C3422 trophoblastic neoplasm MONDO:0005208 amelanotic skin melanoma MONDO:0002971 NCIT:C4633 NCIT:C3802 amelanotic melanoma MONDO:0005208 amelanotic skin melanoma MONDO:0005012 NCIT:C4633 NCIT:C3510 cutaneous melanoma MONDO:0005211 ovarian serous adenocarcinoma MONDO:0002752 NCIT:C7550 NCIT:C7700 ovarian adenocarcinoma MONDO:0005211 ovarian serous adenocarcinoma MONDO:0005278 NCIT:C7550 NCIT:C40101 serous adenocarcinoma MONDO:0005211 ovarian serous adenocarcinoma MONDO:0024885 NCIT:C7550 NCIT:C40025 malignant ovarian serous tumor MONDO:0005214 vulva sarcoma MONDO:0001528 NCIT:C40317 NCIT:C7502 vulva cancer MONDO:0005214 vulva sarcoma MONDO:0018078 NCIT:C40317 NCIT:C9306 soft tissue sarcoma MONDO:0005215 vulvar carcinoma MONDO:0001528 NCIT:C4866 NCIT:C7502 vulva cancer MONDO:0005216 hypopharyngeal carcinoma MONDO:0005806 NCIT:C9465 NCIT:C7190 hypopharynx cancer MONDO:0005216 hypopharyngeal carcinoma MONDO:0021345 NCIT:C9465 NCIT:C9466 carcinoma of pharynx MONDO:0005221 renal pelvis urothelial carcinoma MONDO:0005519 NCIT:C7355 NCIT:C6142 renal pelvis carcinoma MONDO:0005221 renal pelvis urothelial carcinoma MONDO:0020654 NCIT:C7355 NCIT:C7716 renal pelvis/ureter urothelial carcinoma MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:0015667 NCIT:C8460 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:0015667 NCIT:C3249 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0005232 large cell carcinoma MONDO:0004993 NCIT:C3780 NCIT:C2916 carcinoma MONDO:0005233 non-small cell lung carcinoma MONDO:0005138 NCIT:C2926 NCIT:C4878 lung carcinoma MONDO:0005235 smoldering plasma cell myeloma MONDO:0009693 NCIT:C7149 NCIT:C3242 plasma cell myeloma MONDO:0005278 serous adenocarcinoma MONDO:0004970 NCIT:C40101 NCIT:C2852 adenocarcinoma MONDO:0005286 palatal neoplasm MONDO:0021245 NCIT:C4402 NCIT:C7606 oral cavity neoplasm MONDO:0005289 paranasal sinus neoplasm MONDO:0001735 NCIT:C7488 NCIT:C26843 paranasal sinus disorder MONDO:0005335 colorectal neoplasm MONDO:0021118 NCIT:C2956 NCIT:C3141 intestinal neoplasm MONDO:0005341 skin basal cell carcinoma MONDO:0020804 NCIT:C2921 NCIT:C156767 basal cell carcinoma MONDO:0005374 bone marrow neoplasm MONDO:0002334 NCIT:C35370 NCIT:C35813 hematopoietic and lymphoid system neoplasm MONDO:0005374 bone marrow neoplasm MONDO:0003225 NCIT:C35370 NCIT:C34433 bone marrow disorder MONDO:0005375 nasopharyngeal neoplasm MONDO:0004821 NCIT:C3257 NCIT:C35723 nasopharyngeal disorder MONDO:0005375 nasopharyngeal neoplasm MONDO:0021246 NCIT:C3257 NCIT:C3325 pharynx neoplasm MONDO:0005401 colonic neoplasm MONDO:0005335 NCIT:C2953 NCIT:C2956 colorectal neoplasm MONDO:0005402 lymphoid leukemia MONDO:0005059 NCIT:C7539 NCIT:C3161 leukemia MONDO:0005402 lymphoid leukemia MONDO:0005157 NCIT:C7539 NCIT:C7065 lymphoid neoplasm MONDO:0005411 gallbladder cancer MONDO:0021253 NCIT:C7481 NCIT:C3048 gallbladder neoplasm MONDO:0005438 metastatic malignant neoplasm in the lymph nodes MONDO:0001082 NCIT:C4904 NCIT:C35812 lymph node cancer MONDO:0005447 testicular cancer MONDO:0005836 NCIT:C7251 NCIT:C8561 male reproductive organ cancer MONDO:0005447 testicular cancer MONDO:0021348 NCIT:C7251 NCIT:C3404 neoplasm of testis MONDO:0005454 lung neuroendocrine neoplasm MONDO:0019496 NCIT:C5670 NCIT:C3809 neuroendocrine neoplasm MONDO:0005454 lung neuroendocrine neoplasm MONDO:0021117 NCIT:C5670 NCIT:C3200 lung neoplasm MONDO:0005461 endometrium adenocarcinoma MONDO:0002447 NCIT:C7359 NCIT:C7558 endometrial carcinoma MONDO:0005461 endometrium adenocarcinoma MONDO:0004970 NCIT:C7359 NCIT:C2852 adenocarcinoma MONDO:0005462 primitive neuroectodermal tumor MONDO:0005564 NCIT:C3716 NCIT:C3264 embryonal neoplasm MONDO:0005462 primitive neuroectodermal tumor MONDO:0021193 NCIT:C3716 NCIT:C3787 neuroepithelial neoplasm MONDO:0005484 colorectal adenoma MONDO:0006180 NCIT:C5673 NCIT:C36207 digestive system adenoma MONDO:0005499 brain glioma MONDO:0001657 NCIT:C162993 NCIT:C3568 brain cancer MONDO:0005499 brain glioma MONDO:0100342 NCIT:C162993 NCIT:C4822 malignant glioma MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0016729 NCIT:C9505 NCIT:C4747 mixed neuronal-glial tumor MONDO:0005506 eccrine sweat gland cancer MONDO:0002090 NCIT:C5559 NCIT:C6796 eccrine sweat gland neoplasm MONDO:0005506 eccrine sweat gland cancer MONDO:0002206 NCIT:C5559 NCIT:C4810 sweat gland cancer MONDO:0005507 gingival cancer MONDO:0005515 NCIT:C9317 NCIT:C9314 oral cavity cancer MONDO:0005507 gingival cancer MONDO:0021086 NCIT:C9317 NCIT:C3057 gingival neoplasm MONDO:0005515 oral cavity cancer MONDO:0021245 NCIT:C9314 NCIT:C7606 oral cavity neoplasm MONDO:0005517 pharynx cancer MONDO:0021246 NCIT:C7545 NCIT:C3325 pharynx neoplasm MONDO:0005517 pharynx cancer MONDO:0021310 NCIT:C7545 NCIT:C4940 malignant tumor of neck MONDO:0005519 renal pelvis carcinoma MONDO:0005206 NCIT:C6142 NCIT:C9384 renal carcinoma MONDO:0005519 renal pelvis carcinoma MONDO:0044919 NCIT:C6142 NCIT:C7525 malignant renal pelvis neoplasm MONDO:0005522 small intestine carcinoma MONDO:0000956 NCIT:C7724 NCIT:C7523 small intestine cancer MONDO:0005522 small intestine carcinoma MONDO:0006181 NCIT:C7724 NCIT:C96963 digestive system carcinoma MONDO:0005524 sweat gland carcinoma MONDO:0002206 NCIT:C6938 NCIT:C4810 sweat gland cancer MONDO:0005524 sweat gland carcinoma MONDO:0004970 NCIT:C6938 NCIT:C2852 adenocarcinoma MONDO:0005524 sweat gland carcinoma MONDO:0006973 NCIT:C6938 NCIT:C3775 skin appendage carcinoma MONDO:0005565 blastoma MONDO:0005564 NCIT:C8997 NCIT:C3264 embryonal neoplasm MONDO:0005575 colorectal cancer MONDO:0005335 NCIT:C4978 NCIT:C2956 colorectal neoplasm MONDO:0005575 colorectal cancer MONDO:0005814 NCIT:C4978 NCIT:C4572 intestinal cancer MONDO:0005580 esophageal squamous cell carcinoma MONDO:0005096 NCIT:C4024 NCIT:C2929 squamous cell carcinoma MONDO:0005580 esophageal squamous cell carcinoma MONDO:0019086 NCIT:C4024 NCIT:C3513 carcinoma of esophagus MONDO:0005590 breast ductal adenocarcinoma MONDO:0004988 NCIT:C4017 NCIT:C5214 breast adenocarcinoma MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0002358 NCIT:C4044 NCIT:C4855 laryngeal carcinoma MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0010150 NCIT:C4044 NCIT:C34447 head and neck squamous cell carcinoma MONDO:0005596 cystadenocarcinoma MONDO:0004970 NCIT:C2971 NCIT:C2852 adenocarcinoma MONDO:0005596 cystadenocarcinoma MONDO:0021077 NCIT:C2971 NCIT:C6784 cystic neoplasm MONDO:0005601 ovarian mucinous adenocarcinoma MONDO:0002752 NCIT:C5243 NCIT:C7700 ovarian adenocarcinoma MONDO:0005601 ovarian mucinous adenocarcinoma MONDO:0004957 NCIT:C5243 NCIT:C26712 mucinous adenocarcinoma MONDO:0005601 ovarian mucinous adenocarcinoma MONDO:0024282 NCIT:C5243 NCIT:C40033 mucinous ovarian cancer MONDO:0005602 ovarian teratoma MONDO:0006233 NCIT:C8110 NCIT:C98291 gonadal teratoma MONDO:0005602 ovarian teratoma MONDO:0011366 NCIT:C8110 NCIT:C3873 ovarian germ cell tumor MONDO:0005605 transitional cell papilloma MONDO:0002363 NCIT:C4115 NCIT:C7440 papilloma MONDO:0005606 tubular adenocarcinoma MONDO:0004970 NCIT:C65192 NCIT:C2852 adenocarcinoma MONDO:0005611 bladder transitional cell carcinoma MONDO:0004986 NCIT:C39851 NCIT:C4912 urinary bladder carcinoma MONDO:0005611 bladder transitional cell carcinoma MONDO:0040679 NCIT:C39851 NCIT:C4030 urothelial carcinoma MONDO:0005613 mesonephric adenocarcinoma MONDO:0004970 NCIT:C4072 NCIT:C2852 adenocarcinoma MONDO:0005614 pancreatic adenosquamous carcinoma MONDO:0006074 NCIT:C5721 NCIT:C3727 adenosquamous carcinoma MONDO:0005615 plasmacytoma MONDO:0004959 NCIT:C9349 NCIT:C4665 plasma cell neoplasm MONDO:0005616 pulmonary mucoepidermoid carcinoma MONDO:0003036 NCIT:C45544 NCIT:C3772 mucoepidermoid carcinoma MONDO:0005617 undifferentiated carcinoma MONDO:0004993 NCIT:C3692 NCIT:C2916 carcinoma MONDO:0005627 head and neck cancer MONDO:0004992 NCIT:C4013 NCIT:C9305 cancer MONDO:0005627 head and neck cancer MONDO:0005586 NCIT:C4013 NCIT:C3077 head and neck neoplasm MONDO:0005628 male breast carcinoma MONDO:0004989 NCIT:C3862 NCIT:C4872 breast carcinoma MONDO:0005635 adenomyoma MONDO:0000624 NCIT:C3726 NCIT:C4934 benign female reproductive system neoplasm MONDO:0005636 adenosarcoma MONDO:0001416 NCIT:C9474 NCIT:C4913 female reproductive organ cancer MONDO:0005636 adenosarcoma MONDO:0005853 NCIT:C9474 NCIT:C3729 malignant mixed neoplasm MONDO:0005665 Bell's palsy MONDO:0002098 NCIT:C26769 NCIT:C27594 facial nerve disorder MONDO:0005665 Bell's palsy MONDO:0002782 NCIT:C26769 NCIT:C26941 cranial nerve palsy MONDO:0005694 cecal neoplasm MONDO:0005401 NCIT:C4433 NCIT:C2953 colonic neoplasm MONDO:0005710 composite lymphoma MONDO:0005062 NCIT:C38661 NCIT:C3208 lymphoma MONDO:0005806 hypopharynx cancer MONDO:0005517 NCIT:C7190 NCIT:C7545 pharynx cancer MONDO:0005806 hypopharynx cancer MONDO:0021358 NCIT:C7190 NCIT:C3127 neoplasm of hypopharynx MONDO:0005814 intestinal cancer MONDO:0002516 NCIT:C4572 NCIT:C4890 digestive system cancer MONDO:0005814 intestinal cancer MONDO:0021118 NCIT:C4572 NCIT:C3141 intestinal neoplasm MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0001933 NCIT:C27031 NCIT:C27067 endocrine pancreas disorder MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0021040 NCIT:C27031 NCIT:C3305 pancreatic neoplasm MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0024503 NCIT:C27031 NCIT:C27721 digestive system neuroendocrine neoplasm MONDO:0005836 male reproductive organ cancer MONDO:0002149 NCIT:C8561 NCIT:C36076 reproductive system cancer MONDO:0005836 male reproductive organ cancer MONDO:0024582 NCIT:C8561 NCIT:C3054 male reproductive system neoplasm MONDO:0005843 mediastinal cancer MONDO:0003274 NCIT:C3549 NCIT:C3576 thoracic cancer MONDO:0005843 mediastinal cancer MONDO:0021386 NCIT:C3549 NCIT:C3221 neoplasm of mediastinum MONDO:0005853 malignant mixed neoplasm MONDO:0004992 NCIT:C3729 NCIT:C9305 cancer MONDO:0005853 malignant mixed neoplasm MONDO:0021043 NCIT:C3729 NCIT:C6930 mixed neoplasm MONDO:0005858 mucinous cystadenocarcinoma MONDO:0004957 NCIT:C3776 NCIT:C26712 mucinous adenocarcinoma MONDO:0005858 mucinous cystadenocarcinoma MONDO:0005596 NCIT:C3776 NCIT:C2971 cystadenocarcinoma MONDO:0005864 muscle cancer MONDO:0000637 NCIT:C4883 NCIT:C166357 musculoskeletal system cancer MONDO:0005872 nervous system cancer MONDO:0004992 NCIT:C4788 NCIT:C9305 cancer MONDO:0005872 nervous system cancer MONDO:0021248 NCIT:C4788 NCIT:C3268 nervous system neoplasm MONDO:0005893 pancreatic endocrine carcinoma MONDO:0005815 NCIT:C3770 NCIT:C27031 pancreatic neuroendocrine neoplasm MONDO:0005893 pancreatic endocrine carcinoma MONDO:0009831 NCIT:C3770 NCIT:C9005 malignant pancreatic neoplasm MONDO:0005933 pulmonary blastoma MONDO:0006279 NCIT:C3732 NCIT:C45540 lung sarcomatoid carcinoma MONDO:0005941 retroperitoneal cancer MONDO:0024645 NCIT:C3537 NCIT:C3357 retroperitoneal neoplasm MONDO:0005953 scirrhous adenocarcinoma MONDO:0004970 NCIT:C2928 NCIT:C2852 adenocarcinoma MONDO:0005966 spleen cancer MONDO:0036696 NCIT:C3539 NCIT:C3383 spleen neoplasm MONDO:0006006 verrucous carcinoma MONDO:0002979 NCIT:C3781 NCIT:C4102 papillary squamous carcinoma MONDO:0006028 cecum adenocarcinoma MONDO:0002271 NCIT:C5543 NCIT:C4349 colon adenocarcinoma MONDO:0006028 cecum adenocarcinoma MONDO:0006029 NCIT:C5543 NCIT:C3491 cecum carcinoma MONDO:0006029 cecum carcinoma MONDO:0002033 NCIT:C3491 NCIT:C9329 cecum cancer MONDO:0006034 gastric adenosquamous carcinoma MONDO:0006074 NCIT:C5474 NCIT:C3727 adenosquamous carcinoma MONDO:0006035 gastric tubular adenocarcinoma MONDO:0005606 NCIT:C5473 NCIT:C65192 tubular adenocarcinoma MONDO:0006036 granulosa cell tumor MONDO:0006055 NCIT:C3070 NCIT:C3794 sex cord-stromal tumor MONDO:0006041 lung carcinoid tumor MONDO:0005454 NCIT:C4038 NCIT:C5670 lung neuroendocrine neoplasm MONDO:0006043 metaplastic breast carcinoma MONDO:0006256 NCIT:C5164 NCIT:C9245 invasive breast carcinoma MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0000548 NCIT:C40078 NCIT:C40077 ovarian clear cell cancer MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0002752 NCIT:C40078 NCIT:C7700 ovarian adenocarcinoma MONDO:0006045 ovarian clear cell adenocarcinoma MONDO:0005004 NCIT:C40078 NCIT:C3766 clear cell adenocarcinoma MONDO:0006046 ovarian serous cystadenocarcinoma MONDO:0002702 NCIT:C7978 NCIT:C5228 ovarian cystadenocarcinoma MONDO:0006046 ovarian serous cystadenocarcinoma MONDO:0005211 NCIT:C7978 NCIT:C7550 ovarian serous adenocarcinoma MONDO:0006046 ovarian serous cystadenocarcinoma MONDO:0024621 NCIT:C7978 NCIT:C3778 serous cystadenocarcinoma MONDO:0006047 pancreatic adenocarcinoma MONDO:0004970 NCIT:C8294 NCIT:C2852 adenocarcinoma MONDO:0006047 pancreatic adenocarcinoma MONDO:0005192 NCIT:C8294 NCIT:C3850 exocrine pancreatic carcinoma MONDO:0006050 pleomorphic breast carcinoma MONDO:0004953 NCIT:C5161 NCIT:C4194 invasive ductal breast carcinoma MONDO:0006053 renal leiomyoma MONDO:0001572 NCIT:C159209 NCIT:C3157 leiomyoma MONDO:0006053 renal leiomyoma MONDO:0002513 NCIT:C159209 NCIT:C4778 kidney benign neoplasm MONDO:0006054 reproductive system neoplasm MONDO:0005039 NCIT:C3674 NCIT:C4875 reproductive system disorder MONDO:0006055 sex cord-stromal tumor MONDO:0006054 NCIT:C3794 NCIT:C3674 reproductive system neoplasm MONDO:0006056 squamous cell breast carcinoma MONDO:0005096 NCIT:C5177 NCIT:C2929 squamous cell carcinoma MONDO:0006058 Wilms tumor MONDO:0005564 NCIT:C3267 NCIT:C3264 embryonal neoplasm MONDO:0006058 Wilms tumor MONDO:0005853 NCIT:C3267 NCIT:C3729 malignant mixed neoplasm MONDO:0006059 nasal cavity squamous cell carcinoma MONDO:0003212 NCIT:C8192 NCIT:C9336 nasal cavity carcinoma MONDO:0006066 acinar prostate adenocarcinoma, foamy gland variant MONDO:0002493 NCIT:C39882 NCIT:C5596 prostatic acinar adenocarcinoma MONDO:0006067 acinar prostate mucinous adenocarcinoma MONDO:0002493 NCIT:C5537 NCIT:C5596 prostatic acinar adenocarcinoma MONDO:0006067 acinar prostate mucinous adenocarcinoma MONDO:0004957 NCIT:C5537 NCIT:C26712 mucinous adenocarcinoma MONDO:0006069 ACTH-producing pituitary gland carcinoma MONDO:0017582 NCIT:C5964 NCIT:C4536 pituitary adenocarcinoma MONDO:0006076 adrenal gland neuroblastoma MONDO:0003606 NCIT:C4827 NCIT:C4396 adrenal medulla cancer MONDO:0006081 anal melanoma MONDO:0001879 NCIT:C4639 NCIT:C7379 anus cancer MONDO:0006082 anal squamous cell carcinoma MONDO:0003199 NCIT:C9161 NCIT:C9291 anal carcinoma MONDO:0006085 angiolipoma MONDO:0005106 NCIT:C3733 NCIT:C3192 lipoma MONDO:0006087 appendix adenocarcinoma MONDO:0003196 NCIT:C7718 NCIT:C9330 appendix carcinoma MONDO:0006091 appendix neuroendocrine tumor G1 MONDO:0015066 NCIT:C4138 NCIT:C96422 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0006092 appendix villous adenoma MONDO:0006088 NCIT:C5512 NCIT:C43550 appendix adenoma MONDO:0006093 ascending colon neuroendocrine tumor G1 MONDO:0006155 NCIT:C6427 NCIT:C5497 colon neuroendocrine tumor G1 MONDO:0006094 Askin tumor MONDO:0018271 NCIT:C7542 NCIT:C9341 peripheral primitive neuroectodermal tumor MONDO:0006098 atypical lobular breast hyperplasia MONDO:0002486 NCIT:C4730 NCIT:C27939 lobular neoplasia MONDO:0006102 basaloid carcinoma MONDO:0004993 NCIT:C4121 NCIT:C2916 carcinoma MONDO:0006103 benign adrenal gland pheochromocytoma MONDO:0004974 NCIT:C48305 NCIT:C3326 adrenal gland pheochromocytoma MONDO:0006104 benign carotid body paraganglioma MONDO:0021053 NCIT:C79950 NCIT:C2932 carotid body paraganglioma MONDO:0006105 benign conjunctival neoplasm MONDO:0020204 NCIT:C3622 NCIT:C2961 conjunctival tumor MONDO:0006105 benign conjunctival neoplasm MONDO:0021454 NCIT:C3622 NCIT:C4780 benign neoplasm of eye MONDO:0006106 benign smooth muscle neoplasm MONDO:0003061 NCIT:C6510 NCIT:C4882 benign muscle neoplasm MONDO:0006106 benign smooth muscle neoplasm MONDO:0006975 NCIT:C6510 NCIT:C3751 smooth muscle tumor MONDO:0006107 benign thyroid gland neoplasm MONDO:0015074 NCIT:C3628 NCIT:C3414 thyroid tumor MONDO:0006108 bile duct adenoma MONDO:0006180 NCIT:C2942 NCIT:C36207 digestive system adenoma MONDO:0006108 bile duct adenoma MONDO:0021662 NCIT:C2942 NCIT:C2898 bile duct neoplasm MONDO:0006112 bladder inflammatory myofibroblastic tumor MONDO:0015798 NCIT:C6177 NCIT:C6481 inflammatory myofibroblastic tumor MONDO:0006115 blast phase chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0011996 NCIT:C9110 NCIT:C3174 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0006117 breast diffuse large B-cell lymphoma MONDO:0018905 NCIT:C40375 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma MONDO:0007650 NCIT:C35688 NCIT:C3898 MALT lymphoma MONDO:0006123 cardiac rhabdomyoma MONDO:0036688 NCIT:C6739 NCIT:C3358 rhabdomyoma MONDO:0006126 cecum neuroendocrine tumor G1 MONDO:0006155 NCIT:C5501 NCIT:C5497 colon neuroendocrine tumor G1 MONDO:0006128 central nervous system anaplastic large cell lymphoma MONDO:0020325 NCIT:C5322 NCIT:C3720 anaplastic large cell lymphoma MONDO:0006130 central nervous system neoplasm MONDO:0002602 NCIT:C9293 NCIT:C2934 central nervous system disorder MONDO:0006130 central nervous system neoplasm MONDO:0021248 NCIT:C9293 NCIT:C3268 nervous system neoplasm MONDO:0006133 cervical adenoid cystic carcinoma MONDO:0004971 NCIT:C6346 NCIT:C2970 adenoid cystic carcinoma MONDO:0006134 cervical adenosquamous carcinoma MONDO:0006074 NCIT:C4519 NCIT:C3727 adenosquamous carcinoma MONDO:0006135 cervical clear cell adenocarcinoma MONDO:0005004 NCIT:C6344 NCIT:C3766 clear cell adenocarcinoma MONDO:0006140 cervical mucinous adenocarcinoma, minimal deviation variant MONDO:0002742 NCIT:C40206 NCIT:C36095 cervical mucinous adenocarcinoma MONDO:0006141 cervical villoglandular adenocarcinoma MONDO:0003204 NCIT:C40208 NCIT:C4142 villous adenocarcinoma MONDO:0006143 cervical squamous cell carcinoma MONDO:0005096 NCIT:C4028 NCIT:C2929 squamous cell carcinoma MONDO:0006143 cervical squamous cell carcinoma MONDO:0005131 NCIT:C4028 NCIT:C9039 cervical carcinoma MONDO:0006144 cervical Wilms tumor MONDO:0002974 NCIT:C40236 NCIT:C9311 cervical cancer MONDO:0006144 cervical Wilms tumor MONDO:0006058 NCIT:C40236 NCIT:C3267 Wilms tumor MONDO:0006149 clear cell papillary cystadenoma MONDO:0021091 NCIT:C65203 NCIT:C2974 papillary cystadenoma MONDO:0006155 colon neuroendocrine tumor G1 MONDO:0006162 NCIT:C5497 NCIT:C96160 colorectal neuroendocrine tumor G1 MONDO:0006155 colon neuroendocrine tumor G1 MONDO:0015067 NCIT:C5497 NCIT:C135212 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0006156 colon sessile serrated adenoma/polyp MONDO:0000527 NCIT:C96464 NCIT:C3864 colon adenoma MONDO:0006156 colon sessile serrated adenoma/polyp MONDO:0006164 NCIT:C96464 NCIT:C83176 colorectal sessile serrated adenoma/polyp MONDO:0006156 colon sessile serrated adenoma/polyp MONDO:0021400 NCIT:C96464 NCIT:C2954 polyp of colon MONDO:0006157 colorectal adenosquamous carcinoma MONDO:0006074 NCIT:C43589 NCIT:C3727 adenosquamous carcinoma MONDO:0006159 colorectal gastrointestinal stromal tumor MONDO:0005335 NCIT:C27735 NCIT:C2956 colorectal neoplasm MONDO:0006162 colorectal neuroendocrine tumor G1 MONDO:0021533 NCIT:C96160 NCIT:C4637 intestinal neuroendocrine tumor G1 MONDO:0006163 colorectal serrated adenocarcinoma MONDO:0005008 NCIT:C96485 NCIT:C5105 colorectal adenocarcinoma MONDO:0006164 colorectal sessile serrated adenoma/polyp MONDO:0005484 NCIT:C83176 NCIT:C5673 colorectal adenoma MONDO:0006165 colorectal squamous cell carcinoma MONDO:0005096 NCIT:C43588 NCIT:C2929 squamous cell carcinoma MONDO:0006165 colorectal squamous cell carcinoma MONDO:0024331 NCIT:C43588 NCIT:C2955 colorectal carcinoma MONDO:0006172 conjunctival nevus MONDO:0006105 NCIT:C4551 NCIT:C3622 benign conjunctival neoplasm MONDO:0006174 cortisol-producing adrenal cortex adenoma MONDO:0003924 NCIT:C48449 NCIT:C9003 adrenal cortex adenoma MONDO:0006180 digestive system adenoma MONDO:0004972 NCIT:C36207 NCIT:C2855 adenoma MONDO:0006181 digestive system carcinoma MONDO:0002516 NCIT:C96963 NCIT:C4890 digestive system cancer MONDO:0006181 digestive system carcinoma MONDO:0004993 NCIT:C96963 NCIT:C2916 carcinoma MONDO:0006182 digestive system mixed adenoneuroendocrine carcinoma MONDO:0006181 NCIT:C95406 NCIT:C96963 digestive system carcinoma MONDO:0006183 disseminated peritoneal leiomyomatosis MONDO:0000650 NCIT:C3958 NCIT:C8612 peritoneal benign neoplasm MONDO:0006183 disseminated peritoneal leiomyomatosis MONDO:0003295 NCIT:C3958 NCIT:C3748 leiomyomatosis MONDO:0006184 ductal breast carcinoma in situ and lobular carcinoma in situ MONDO:0004658 NCIT:C4195 NCIT:C3641 breast carcinoma in situ MONDO:0006186 duodenal adenocarcinoma MONDO:0003198 NCIT:C7889 NCIT:C7888 small intestine adenocarcinoma MONDO:0006186 duodenal adenocarcinoma MONDO:0021335 NCIT:C7889 NCIT:C4803 carcinoma of duodenum MONDO:0006188 EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0005169 NCIT:C80373 NCIT:C27909 neoplasm of mature T-cells or NK-cells MONDO:0006189 eccrine porocarcinoma MONDO:0024240 NCIT:C5560 NCIT:C27255 eccrine carcinoma MONDO:0006191 endometrial clear cell adenocarcinoma MONDO:0005004 NCIT:C8028 NCIT:C3766 clear cell adenocarcinoma MONDO:0006192 endometrial endometrioid adenocarcinoma MONDO:0005026 NCIT:C6287 NCIT:C3769 endometrioid adenocarcinoma MONDO:0006195 endometrial polyp MONDO:0004701 NCIT:C6433 NCIT:C3662 uterine polyp MONDO:0006196 endometrial serous adenocarcinoma MONDO:0005278 NCIT:C27838 NCIT:C40101 serous adenocarcinoma MONDO:0006198 endometrial squamous cell carcinoma MONDO:0002447 NCIT:C8719 NCIT:C7558 endometrial carcinoma MONDO:0006198 endometrial squamous cell carcinoma MONDO:0005096 NCIT:C8719 NCIT:C2929 squamous cell carcinoma MONDO:0006199 endometrial undifferentiated carcinoma MONDO:0005617 NCIT:C40156 NCIT:C3692 undifferentiated carcinoma MONDO:0006200 epithelioid cell uveal melanoma MONDO:0002973 NCIT:C35780 NCIT:C4236 epithelioid cell melanoma MONDO:0006200 epithelioid cell uveal melanoma MONDO:0006486 NCIT:C35780 NCIT:C7712 uveal melanoma MONDO:0006201 ethmoid sinus adenoid cystic carcinoma MONDO:0001763 NCIT:C6238 NCIT:C3541 ethmoid sinus cancer MONDO:0006201 ethmoid sinus adenoid cystic carcinoma MONDO:0006352 NCIT:C6238 NCIT:C6019 paranasal sinus adenoid cystic carcinoma MONDO:0006203 extrahepatic bile duct squamous cell carcinoma MONDO:0003090 NCIT:C5777 NCIT:C3860 extrahepatic bile duct carcinoma MONDO:0006206 fallopian tube carcinoma MONDO:0002158 NCIT:C3867 NCIT:C7480 fallopian tube cancer MONDO:0006208 fallopian tube serous adenocarcinoma MONDO:0002746 NCIT:C40099 NCIT:C6265 fallopian tube adenocarcinoma MONDO:0006208 fallopian tube serous adenocarcinoma MONDO:0005278 NCIT:C40099 NCIT:C40101 serous adenocarcinoma MONDO:0006209 fibroblastic neoplasm MONDO:0002616 NCIT:C7075 NCIT:C7059 mesenchymal cell neoplasm MONDO:0006210 fibrolamellar hepatocellular carcinoma MONDO:0007256 NCIT:C4131 NCIT:C3099 hepatocellular carcinoma MONDO:0006213 floor of mouth mucoepidermoid carcinoma MONDO:0021343 NCIT:C8178 NCIT:C9319 carcinoma of floor of mouth MONDO:0006213 floor of mouth mucoepidermoid carcinoma MONDO:0044964 NCIT:C8178 NCIT:C8177 oral cavity mucoepidermoid carcinoma MONDO:0006215 gallbladder adenocarcinoma MONDO:0003220 NCIT:C9166 NCIT:C3844 gallbladder carcinoma MONDO:0006215 gallbladder adenocarcinoma MONDO:0004970 NCIT:C9166 NCIT:C2852 adenocarcinoma MONDO:0006216 gallbladder adenoma MONDO:0021416 NCIT:C7720 NCIT:C3909 polyp of gallbladder MONDO:0006217 gallbladder adenosquamous carcinoma MONDO:0006074 NCIT:C7356 NCIT:C3727 adenosquamous carcinoma MONDO:0006218 gallbladder biliary intraepithelial neoplasia MONDO:0021253 NCIT:C43606 NCIT:C3048 gallbladder neoplasm MONDO:0006220 gallbladder squamous cell carcinoma MONDO:0003220 NCIT:C9170 NCIT:C3844 gallbladder carcinoma MONDO:0006220 gallbladder squamous cell carcinoma MONDO:0005096 NCIT:C9170 NCIT:C2929 squamous cell carcinoma MONDO:0006221 gastric adenoma MONDO:0006180 NCIT:C7699 NCIT:C36207 digestive system adenoma MONDO:0006221 gastric adenoma MONDO:0008277 NCIT:C7699 NCIT:C3954 stomach polyp MONDO:0006222 gastric choriocarcinoma MONDO:0003112 NCIT:C95749 NCIT:C5486 malignant gastric germ cell tumor MONDO:0006222 gastric choriocarcinoma MONDO:0003578 NCIT:C95749 NCIT:C8885 extragonadal nonseminomatous germ cell tumor MONDO:0006222 gastric choriocarcinoma MONDO:0005207 NCIT:C95749 NCIT:C2948 choriocarcinoma MONDO:0006225 gastric mantle cell lymphoma MONDO:0018876 NCIT:C27440 NCIT:C4337 mantle cell lymphoma MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma MONDO:0042493 NCIT:C5266 NCIT:C27235 gastric non-hodgkin lymphoma MONDO:0006227 gastric neuroendocrine tumor G1 MONDO:0015062 NCIT:C4635 NCIT:C95871 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0006228 gastric papillary adenocarcinoma MONDO:0002512 NCIT:C5472 NCIT:C2853 papillary adenocarcinoma MONDO:0006230 gastric squamous cell carcinoma MONDO:0004950 NCIT:C5475 NCIT:C4911 gastric carcinoma MONDO:0006230 gastric squamous cell carcinoma MONDO:0005096 NCIT:C5475 NCIT:C2929 squamous cell carcinoma MONDO:0006233 gonadal teratoma MONDO:0002601 NCIT:C98291 NCIT:C3403 teratoma MONDO:0006234 grade III prostatic intraepithelial neoplasia MONDO:0005159 NCIT:C3642 NCIT:C4863 prostate carcinoma MONDO:0006235 granular cell tumor MONDO:0002547 NCIT:C3474 NCIT:C4972 nerve sheath neoplasm MONDO:0006237 granulocytic sarcoma MONDO:0006861 NCIT:C35815 NCIT:C3520 myeloid sarcoma MONDO:0006243 hepatoid adenocarcinoma MONDO:0004970 NCIT:C66950 NCIT:C2852 adenocarcinoma MONDO:0006244 HER2 positive breast carcinoma MONDO:0006116 NCIT:C53556 NCIT:C53553 breast carcinoma by gene expression profile MONDO:0006245 hidradenocarcinoma MONDO:0005004 NCIT:C54664 NCIT:C3766 clear cell adenocarcinoma MONDO:0006245 hidradenocarcinoma MONDO:0005524 NCIT:C54664 NCIT:C6938 sweat gland carcinoma MONDO:0006246 high grade surface osteosarcoma MONDO:0002628 NCIT:C53958 NCIT:C7134 peripheral osteosarcoma MONDO:0006247 histiocytic and dendritic cell neoplasm MONDO:0044881 NCIT:C9294 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0006250 ileal neuroendocrine tumor G1 MONDO:0000540 NCIT:C4935 NCIT:C4638 small intestinal neuroendocrine tumor G1 MONDO:0006250 ileal neuroendocrine tumor G1 MONDO:0015065 NCIT:C4935 NCIT:C135092 ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0006254 intestinal type adenocarcinoma MONDO:0004970 NCIT:C4126 NCIT:C2852 adenocarcinoma MONDO:0006255 intimal sarcoma MONDO:0002927 NCIT:C53677 NCIT:C27005 spindle cell sarcoma MONDO:0006255 intimal sarcoma MONDO:0018078 NCIT:C53677 NCIT:C9306 soft tissue sarcoma MONDO:0006256 invasive breast carcinoma MONDO:0004989 NCIT:C9245 NCIT:C4872 breast carcinoma MONDO:0006256 invasive breast carcinoma MONDO:0040677 NCIT:C9245 NCIT:C9480 invasive carcinoma MONDO:0006257 jejunal neuroendocrine tumor G1 MONDO:0000540 NCIT:C6429 NCIT:C4638 small intestinal neuroendocrine tumor G1 MONDO:0006257 jejunal neuroendocrine tumor G1 MONDO:0015064 NCIT:C6429 NCIT:C135090 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0006262 lacrimal gland adenoid cystic carcinoma MONDO:0004971 NCIT:C4540 NCIT:C2970 adenoid cystic carcinoma MONDO:0006264 laryngeal adenoid cystic carcinoma MONDO:0002358 NCIT:C9462 NCIT:C4855 laryngeal carcinoma MONDO:0006264 laryngeal adenoid cystic carcinoma MONDO:0004971 NCIT:C9462 NCIT:C2970 adenoid cystic carcinoma MONDO:0006266 Leydig cell tumor MONDO:0006055 NCIT:C3188 NCIT:C3794 sex cord-stromal tumor MONDO:0006267 liver cavernous hemangioma MONDO:0002404 NCIT:C96839 NCIT:C3869 liver hemangioma MONDO:0006267 liver cavernous hemangioma MONDO:0003155 NCIT:C96839 NCIT:C3086 cavernous hemangioma MONDO:0006270 lobular breast carcinoma in situ MONDO:0002486 NCIT:C4018 NCIT:C27939 lobular neoplasia MONDO:0006272 low grade fibromyxoid sarcoma MONDO:0005164 NCIT:C45202 NCIT:C3043 fibrosarcoma MONDO:0006273 low grade fibromyxoid sarcoma with giant collagen rosettes MONDO:0006272 NCIT:C45203 NCIT:C45202 low grade fibromyxoid sarcoma MONDO:0006275 lung giant cell carcinoma MONDO:0006279 NCIT:C4452 NCIT:C45540 lung sarcomatoid carcinoma MONDO:0006276 lung inflammatory myofibroblastic tumor MONDO:0015798 NCIT:C39740 NCIT:C6481 inflammatory myofibroblastic tumor MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0011705 NCIT:C38153 NCIT:C3725 lymphangioleiomyomatosis MONDO:0006277 lung lymphangioleiomyomatosis MONDO:0020588 NCIT:C38153 NCIT:C142783 lung PEComa MONDO:0006278 lung papilloma MONDO:0002363 NCIT:C8295 NCIT:C7440 papilloma MONDO:0006278 lung papilloma MONDO:0002732 NCIT:C8295 NCIT:C4454 lung benign neoplasm MONDO:0006279 lung sarcomatoid carcinoma MONDO:0006406 NCIT:C45540 NCIT:C27004 sarcomatoid carcinoma MONDO:0006284 major salivary gland carcinoma MONDO:0000521 NCIT:C5907 NCIT:C9272 salivary gland carcinoma MONDO:0006284 major salivary gland carcinoma MONDO:0044743 NCIT:C5907 NCIT:C4762 major salivary gland cancer MONDO:0006285 major salivary gland carcinoma ex pleomorphic adenoma MONDO:0006284 NCIT:C5975 NCIT:C5907 major salivary gland carcinoma MONDO:0006285 major salivary gland carcinoma ex pleomorphic adenoma MONDO:0006403 NCIT:C5975 NCIT:C40410 salivary gland carcinoma ex pleomorphic adenoma MONDO:0006286 major salivary gland mucoepidermoid carcinoma MONDO:0006284 NCIT:C5906 NCIT:C5907 major salivary gland carcinoma MONDO:0006286 major salivary gland mucoepidermoid carcinoma MONDO:0021009 NCIT:C5906 NCIT:C5908 salivary gland mucoepidermoid carcinoma MONDO:0006287 malignancy in giant cell tumor of bone MONDO:0021054 NCIT:C4304 NCIT:C9312 bone sarcoma MONDO:0006288 malignant adrenal gland pheochromocytoma MONDO:0004974 NCIT:C4220 NCIT:C3326 adrenal gland pheochromocytoma MONDO:0006290 malignant germ cell tumor MONDO:0004992 NCIT:C4925 NCIT:C9305 cancer MONDO:0006290 malignant germ cell tumor MONDO:0005040 NCIT:C4925 NCIT:C3708 germ cell tumor MONDO:0006291 malignant jugulotympanic paraganglioma MONDO:0021064 NCIT:C4623 NCIT:C3061 jugulotympanic paraganglioma MONDO:0006292 malignant mesothelioma MONDO:0004992 NCIT:C4456 NCIT:C9305 cancer MONDO:0006294 pleural cancer MONDO:0003274 NCIT:C3547 NCIT:C3576 thoracic cancer MONDO:0006294 pleural cancer MONDO:0021065 NCIT:C3547 NCIT:C3332 pleural neoplasm MONDO:0006295 malignant urinary system neoplasm MONDO:0021066 NCIT:C192668 NCIT:C192666 urinary system neoplasm MONDO:0006295 malignant urinary system neoplasm MONDO:0021066 NCIT:C9297 NCIT:C3431 urinary system neoplasm MONDO:0006297 maxillary sinus adenoid cystic carcinoma MONDO:0001748 NCIT:C6239 NCIT:C9332 maxillary sinus carcinoma MONDO:0006297 maxillary sinus adenoid cystic carcinoma MONDO:0006352 NCIT:C6239 NCIT:C6019 paranasal sinus adenoid cystic carcinoma MONDO:0006298 mediastinal malignant germ cell tumor MONDO:0003113 NCIT:C6446 NCIT:C8881 extragonadal germ cell cancer MONDO:0006298 mediastinal malignant germ cell tumor MONDO:0005843 NCIT:C6446 NCIT:C3549 mediastinal cancer MONDO:0006298 mediastinal malignant germ cell tumor MONDO:0021067 NCIT:C6446 NCIT:C6437 mediastinal germ cell tumor MONDO:0006300 medullomyoblastoma with myogenic differentiation MONDO:0007959 NCIT:C3706 NCIT:C3222 medulloblastoma MONDO:0006301 metanephric adenoma MONDO:0002395 NCIT:C27253 NCIT:C8383 renal adenoma MONDO:0006303 middle ear squamous cell carcinoma MONDO:0003190 NCIT:C6086 NCIT:C6089 middle ear carcinoma MONDO:0006304 minor salivary gland adenocarcinoma MONDO:0045069 NCIT:C5948 NCIT:C5957 minor salivary gland carcinoma MONDO:0006306 mixed lobular and ductal breast carcinoma MONDO:0004988 NCIT:C5160 NCIT:C5214 breast adenocarcinoma MONDO:0006309 mucinous gastric adenocarcinoma MONDO:0004957 NCIT:C5248 NCIT:C26712 mucinous adenocarcinoma MONDO:0006312 myofibroma MONDO:0003342 NCIT:C7052 NCIT:C6529 benign perivascular tumor MONDO:0006316 neuroblastic tumor MONDO:0005462 NCIT:C6963 NCIT:C3716 primitive neuroectodermal tumor MONDO:0006317 neurothekeoma MONDO:0002547 NCIT:C7018 NCIT:C4972 nerve sheath neoplasm MONDO:0006320 non-cutaneous melanoma MONDO:0005105 NCIT:C8711 NCIT:C3224 melanoma MONDO:0006321 non-functioning adrenal cortex adenoma MONDO:0003924 NCIT:C48458 NCIT:C9003 adrenal cortex adenoma MONDO:0006321 non-functioning adrenal cortex adenoma MONDO:0021119 NCIT:C48458 NCIT:C94760 non-functioning endocrine neoplasm MONDO:0006324 normal breast-like subtype of breast carcinoma MONDO:0006116 NCIT:C53557 NCIT:C53553 breast carcinoma by gene expression profile MONDO:0006325 ocular melanoma MONDO:0002236 NCIT:C8562 NCIT:C4767 ocular cancer MONDO:0006325 ocular melanoma MONDO:0005105 NCIT:C8562 NCIT:C3224 melanoma MONDO:0006326 ocular melanoma with extraocular extension MONDO:0006325 NCIT:C7913 NCIT:C8562 ocular melanoma MONDO:0006327 ocular sebaceous carcinoma MONDO:0002466 NCIT:C43340 NCIT:C6079 eye carcinoma MONDO:0006327 ocular sebaceous carcinoma MONDO:0006962 NCIT:C43340 NCIT:C40310 sebaceous adenocarcinoma MONDO:0006329 olfactory neuroblastoma MONDO:0002749 NCIT:C3789 NCIT:C5437 extracranial neuroblastoma MONDO:0006330 ossifying fibromyxoid tumor MONDO:0037745 NCIT:C6582 NCIT:C66760 fibromyxoid tumor MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0002752 NCIT:C7979 NCIT:C7700 ovarian adenocarcinoma MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0003812 NCIT:C7979 NCIT:C40051 ovarian endometrial cancer MONDO:0006335 ovarian endometrioid adenocarcinoma MONDO:0005026 NCIT:C7979 NCIT:C3769 endometrioid adenocarcinoma MONDO:0006336 ovarian endometrioid adenocarcinoma with squamous differentiation MONDO:0006335 NCIT:C40061 NCIT:C7979 ovarian endometrioid adenocarcinoma MONDO:0006339 ovarian microcystic stromal tumor MONDO:0024387 NCIT:C121953 NCIT:C6803 benign ovarian sex cord-stromal tumor MONDO:0006340 ovarian serous adenofibroma MONDO:0024886 NCIT:C40031 NCIT:C67090 serous adenofibroma MONDO:0006343 ovarian transitional cell carcinoma MONDO:0005140 NCIT:C5240 NCIT:C4908 ovarian carcinoma MONDO:0006343 ovarian transitional cell carcinoma MONDO:0006474 NCIT:C5240 NCIT:C2930 transitional cell carcinoma MONDO:0006344 ovarian yolk sac tumor MONDO:0005744 NCIT:C8107 NCIT:C3011 yolk sac tumor MONDO:0006344 ovarian yolk sac tumor MONDO:0016096 NCIT:C8107 NCIT:C102870 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0006345 palmar fibromatosis MONDO:0016037 NCIT:C3469 NCIT:C6814 superficial Fibromatosis MONDO:0006346 pancreatic acinar cell carcinoma MONDO:0004965 NCIT:C7977 NCIT:C3768 acinar cell carcinoma MONDO:0006346 pancreatic acinar cell carcinoma MONDO:0006047 NCIT:C7977 NCIT:C8294 pancreatic adenocarcinoma MONDO:0006347 pancreatic large cell neuroendocrine carcinoma MONDO:0005893 NCIT:C95582 NCIT:C3770 pancreatic endocrine carcinoma MONDO:0006348 pancreatic small cell neuroendocrine carcinoma MONDO:0005893 NCIT:C95583 NCIT:C3770 pancreatic endocrine carcinoma MONDO:0006349 papillary cystic neoplasm MONDO:0021077 NCIT:C4179 NCIT:C6784 cystic neoplasm MONDO:0006349 papillary cystic neoplasm MONDO:0021096 NCIT:C4179 NCIT:C8429 papillary epithelial neoplasm MONDO:0006350 papillary transitional cell carcinoma MONDO:0006474 NCIT:C4122 NCIT:C2930 transitional cell carcinoma MONDO:0006350 papillary transitional cell carcinoma MONDO:0006509 NCIT:C4122 NCIT:C2927 papillary carcinoma MONDO:0006351 parachordoma MONDO:0002380 NCIT:C6581 NCIT:C40392 myoepithelial tumor MONDO:0006352 paranasal sinus adenoid cystic carcinoma MONDO:0000380 NCIT:C6019 NCIT:C6014 paranasal sinus carcinoma MONDO:0006352 paranasal sinus adenoid cystic carcinoma MONDO:0004971 NCIT:C6019 NCIT:C2970 adenoid cystic carcinoma MONDO:0006356 parotid gland adenoid cystic carcinoma MONDO:0021331 NCIT:C5937 NCIT:C6791 carcinoma of parotid gland MONDO:0006356 parotid gland adenoid cystic carcinoma MONDO:0045063 NCIT:C5937 NCIT:C5905 major salivary gland adenoid cystic carcinoma MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma MONDO:0006285 NCIT:C5974 NCIT:C5975 major salivary gland carcinoma ex pleomorphic adenoma MONDO:0006357 parotid gland carcinoma ex pleomorphic adenoma MONDO:0021331 NCIT:C5974 NCIT:C6791 carcinoma of parotid gland MONDO:0006358 parotid gland squamous cell carcinoma MONDO:0021331 NCIT:C5942 NCIT:C6791 carcinoma of parotid gland MONDO:0006360 penile carcinoma MONDO:0001325 NCIT:C9061 NCIT:C7547 penile cancer MONDO:0006362 peritoneal mesothelioma MONDO:0006901 NCIT:C7633 NCIT:C3322 peritoneal neoplasm MONDO:0006363 peritoneal multicystic mesothelioma MONDO:0006362 NCIT:C6536 NCIT:C7633 peritoneal mesothelioma MONDO:0006364 peritoneal well differentiated papillary mesothelioma MONDO:0003688 NCIT:C45661 NCIT:C7635 well differentiated papillary mesothelioma MONDO:0006364 peritoneal well differentiated papillary mesothelioma MONDO:0006362 NCIT:C45661 NCIT:C7633 peritoneal mesothelioma MONDO:0006367 pharyngeal adenoid cystic carcinoma MONDO:0004971 NCIT:C5818 NCIT:C2970 adenoid cystic carcinoma MONDO:0006367 pharyngeal adenoid cystic carcinoma MONDO:0021345 NCIT:C5818 NCIT:C9466 carcinoma of pharynx MONDO:0006369 pineal parenchymal tumor of intermediate differentiation MONDO:0024890 NCIT:C6967 NCIT:C6965 pineal parenchymal cell neoplasm MONDO:0006372 pituicytoma MONDO:0003257 NCIT:C94524 NCIT:C7157 posterior pituitary gland neoplasm MONDO:0006373 pituitary gland adenoma MONDO:0004972 NCIT:C3329 NCIT:C2855 adenoma MONDO:0006374 placental choriocarcinoma MONDO:0002178 NCIT:C8893 NCIT:C3555 placenta cancer MONDO:0006374 placental choriocarcinoma MONDO:0020550 NCIT:C8893 NCIT:C4646 gestational choriocarcinoma MONDO:0006375 placental hemangioma MONDO:0006500 NCIT:C4868 NCIT:C3085 hemangioma MONDO:0006375 placental hemangioma MONDO:0021498 NCIT:C4868 NCIT:C8545 benign neoplasm of placenta MONDO:0006377 pleural biphasic mesothelioma MONDO:0006109 NCIT:C45665 NCIT:C4282 malignant biphasic mesothelioma MONDO:0006378 pleural epithelioid mesothelioma MONDO:0005112 NCIT:C45662 NCIT:C7376 malignant pleural mesothelioma MONDO:0006378 pleural epithelioid mesothelioma MONDO:0005599 NCIT:C45662 NCIT:C7985 malignant epithelioid mesothelioma MONDO:0006380 pleural sarcomatoid mesothelioma MONDO:0005112 NCIT:C45663 NCIT:C7376 malignant pleural mesothelioma MONDO:0006380 pleural sarcomatoid mesothelioma MONDO:0006407 NCIT:C45663 NCIT:C45655 sarcomatoid mesothelioma MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma MONDO:0018905 NCIT:C45605 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0006387 primary pulmonary diffuse large B-cell lymphoma MONDO:0020644 NCIT:C45605 NCIT:C5684 lung non-Hodgkin lymphoma MONDO:0006388 prolactin-producing pituitary gland carcinoma MONDO:0017582 NCIT:C5962 NCIT:C4536 pituitary adenocarcinoma MONDO:0006389 prostate rhabdomyosarcoma MONDO:0002854 NCIT:C5522 NCIT:C7731 prostate sarcoma MONDO:0006389 prostate rhabdomyosarcoma MONDO:0005212 NCIT:C5522 NCIT:C3359 rhabdomyosarcoma MONDO:0006393 rectal traditional serrated adenoma MONDO:0000530 NCIT:C96463 NCIT:C5546 rectum adenoma MONDO:0006395 rectal tubulovillous adenoma MONDO:0024662 NCIT:C5620 NCIT:C5675 colorectal tubulovillous adenoma MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor MONDO:0015798 NCIT:C39741 NCIT:C6481 inflammatory myofibroblastic tumor MONDO:0006398 retroperitoneal inflammatory myofibroblastic tumor MONDO:0024645 NCIT:C39741 NCIT:C3357 retroperitoneal neoplasm MONDO:0006400 salivary gland acinic cell carcinoma MONDO:0004965 NCIT:C8013 NCIT:C3768 acinar cell carcinoma MONDO:0006401 salivary gland adenosquamous carcinoma MONDO:0006074 NCIT:C35737 NCIT:C3727 adenosquamous carcinoma MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma MONDO:0000521 NCIT:C40410 NCIT:C9272 salivary gland carcinoma MONDO:0006403 salivary gland carcinoma ex pleomorphic adenoma MONDO:0002472 NCIT:C40410 NCIT:C4397 carcinoma ex pleomorphic adenoma MONDO:0006404 salivary gland large cell carcinoma MONDO:0005232 NCIT:C35735 NCIT:C3780 large cell carcinoma MONDO:0006406 sarcomatoid carcinoma MONDO:0004993 NCIT:C27004 NCIT:C2916 carcinoma MONDO:0006406 sarcomatoid carcinoma MONDO:0020633 NCIT:C27004 NCIT:C36025 anaplastic cancer MONDO:0006408 sex hormone-producing adrenal cortex adenoma MONDO:0003924 NCIT:C48452 NCIT:C9003 adrenal cortex adenoma MONDO:0006409 signet ring cell gastric adenocarcinoma MONDO:0005092 NCIT:C5250 NCIT:C3774 signet ring cell carcinoma MONDO:0006411 sinonasal undifferentiated carcinoma MONDO:0005617 NCIT:C54294 NCIT:C3692 undifferentiated carcinoma MONDO:0006414 skin sarcoma MONDO:0003363 NCIT:C5585 NCIT:C4574 malignant dermis tumor MONDO:0006414 skin sarcoma MONDO:0018078 NCIT:C5585 NCIT:C9306 soft tissue sarcoma MONDO:0006416 small intestinal Burkitt lymphoma MONDO:0007243 NCIT:C27409 NCIT:C2912 Burkitt lymphoma MONDO:0006418 small intestinal enteropathy-associated T-cell lymphoma MONDO:0019473 NCIT:C39610 NCIT:C4737 enteropathy-associated T-cell lymphoma MONDO:0006419 small intestinal intraepithelial neoplasia MONDO:0004251 NCIT:C27462 NCIT:C4432 small intestine neoplasm MONDO:0006421 small intestinal tubular adenoma MONDO:0021303 NCIT:C43552 NCIT:C5340 adenoma of small intestine MONDO:0006421 small intestinal tubular adenoma MONDO:0024660 NCIT:C43552 NCIT:C4133 tubular adenoma MONDO:0006422 small intestinal tubulovillous adenoma MONDO:0021303 NCIT:C43553 NCIT:C5340 adenoma of small intestine MONDO:0006422 small intestinal tubulovillous adenoma MONDO:0024661 NCIT:C43553 NCIT:C4143 tubulovillous adenoma MONDO:0006423 soft tissue chondroma MONDO:0002360 NCIT:C9482 NCIT:C53459 chondroma MONDO:0006424 soft tissue neoplasm MONDO:0044334 NCIT:C3377 NCIT:C3810 connective and soft tissue neoplasm MONDO:0006426 spinal cord primitive neuroectodermal tumor MONDO:0000640 NCIT:C5406 NCIT:C5398 central nervous system primitive neuroectodermal neoplasm MONDO:0006426 spinal cord primitive neuroectodermal tumor MONDO:0003544 NCIT:C5406 NCIT:C3572 spinal cord cancer MONDO:0006427 spindle cell melanoma MONDO:0005105 NCIT:C4237 NCIT:C3224 melanoma MONDO:0006428 splenic diffuse large B-cell lymphoma MONDO:0018905 NCIT:C7308 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0006429 splenic hodgkin lymphoma MONDO:0004952 NCIT:C7295 NCIT:C9357 Hodgkins lymphoma MONDO:0006430 splenic mantle cell lymphoma MONDO:0018876 NCIT:C7306 NCIT:C4337 mantle cell lymphoma MONDO:0006432 stromal predominant kidney Wilms tumor MONDO:0019004 NCIT:C9148 NCIT:C40407 kidney Wilms tumor MONDO:0006436 submandibular gland adenoid cystic carcinoma MONDO:0045063 NCIT:C5935 NCIT:C5905 major salivary gland adenoid cystic carcinoma MONDO:0006442 tendon sheath fibroma MONDO:0005167 NCIT:C6485 NCIT:C3041 fibroma MONDO:0006444 teratoma with malignant transformation MONDO:0002601 NCIT:C4289 NCIT:C3403 teratoma MONDO:0006446 testicular embryonal carcinoma MONDO:0002874 NCIT:C6341 NCIT:C39915 testicular pure germ cell tumor MONDO:0006446 testicular embryonal carcinoma MONDO:0003403 NCIT:C6341 NCIT:C5027 testicular non-seminomatous germ cell cancer MONDO:0006446 testicular embryonal carcinoma MONDO:0005440 NCIT:C6341 NCIT:C3752 embryonal carcinoma MONDO:0006447 testicular non-seminomatous germ cell tumor MONDO:0010108 NCIT:C9313 NCIT:C8591 testicular germ cell tumor MONDO:0006451 thymic carcinoma MONDO:0002586 NCIT:C7569 NCIT:C4962 thymus cancer MONDO:0006451 thymic carcinoma MONDO:0002586 NCIT:C7612 NCIT:C4962 thymus cancer MONDO:0006451 thymic carcinoma MONDO:0004993 NCIT:C7569 NCIT:C2916 carcinoma MONDO:0006451 thymic carcinoma MONDO:0018079 NCIT:C7569 NCIT:C6450 thymic epithelial neoplasm MONDO:0006452 thymic sarcomatoid carcinoma MONDO:0006406 NCIT:C6463 NCIT:C27004 sarcomatoid carcinoma MONDO:0006452 thymic sarcomatoid carcinoma MONDO:0006451 NCIT:C6463 NCIT:C7569 thymic carcinoma MONDO:0006455 thymic undifferentiated carcinoma MONDO:0005617 NCIT:C35718 NCIT:C3692 undifferentiated carcinoma MONDO:0006455 thymic undifferentiated carcinoma MONDO:0006451 NCIT:C35718 NCIT:C7569 thymic carcinoma MONDO:0006456 thymoma MONDO:0018079 NCIT:C3411 NCIT:C6450 thymic epithelial neoplasm MONDO:0006458 thymoma type B3 MONDO:0016974 NCIT:C7997 NCIT:C7114 thymoma type B MONDO:0006459 thymoma type B1 MONDO:0016974 NCIT:C6887 NCIT:C7114 thymoma type B MONDO:0006463 thyroid gland mucoepidermoid carcinoma MONDO:0003036 NCIT:C38762 NCIT:C3772 mucoepidermoid carcinoma MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0015075 NCIT:C46105 NCIT:C4815 thyroid gland carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0005232 NCIT:C3878 NCIT:C3780 large cell carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0005617 NCIT:C3878 NCIT:C3692 undifferentiated carcinoma MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0015075 NCIT:C3878 NCIT:C4815 thyroid gland carcinoma MONDO:0006469 tibial adamantinoma MONDO:0002422 NCIT:C8461 NCIT:C7644 adamantinoma MONDO:0006470 tonsillar squamous cell carcinoma MONDO:0021337 NCIT:C8183 NCIT:C4825 tonsil carcinoma MONDO:0006470 tonsillar squamous cell carcinoma MONDO:0044704 NCIT:C8183 NCIT:C8181 oropharynx squamous cell carcinoma MONDO:0006471 tracheal adenoid cystic carcinoma MONDO:0003184 NCIT:C6051 NCIT:C9347 trachea carcinoma MONDO:0006471 tracheal adenoid cystic carcinoma MONDO:0004971 NCIT:C6051 NCIT:C2970 adenoid cystic carcinoma MONDO:0006474 transitional cell carcinoma MONDO:0004993 NCIT:C2930 NCIT:C2916 carcinoma MONDO:0006476 undifferentiated gallbladder carcinoma MONDO:0003220 NCIT:C9167 NCIT:C3844 gallbladder carcinoma MONDO:0006476 undifferentiated gallbladder carcinoma MONDO:0005617 NCIT:C9167 NCIT:C3692 undifferentiated carcinoma MONDO:0006477 undifferentiated ovarian carcinoma MONDO:0005140 NCIT:C4509 NCIT:C4908 ovarian carcinoma MONDO:0006477 undifferentiated ovarian carcinoma MONDO:0005617 NCIT:C4509 NCIT:C3692 undifferentiated carcinoma MONDO:0006478 undifferentiated pancreatic carcinoma MONDO:0005184 NCIT:C5722 NCIT:C9120 pancreatic ductal adenocarcinoma MONDO:0006479 undifferentiated pancreatic carcinoma with osteoclast-like giant cells MONDO:0006478 NCIT:C5723 NCIT:C5722 undifferentiated pancreatic carcinoma MONDO:0006480 undifferentiated pleomorphic sarcoma, inflammatory variant MONDO:0002142 NCIT:C6497 NCIT:C4247 undifferentiated pleomorphic sarcoma MONDO:0006481 ureter carcinoma MONDO:0008627 NCIT:C8993 NCIT:C7543 ureter cancer MONDO:0006482 ureter small cell carcinoma MONDO:0006481 NCIT:C6176 NCIT:C8993 ureter carcinoma MONDO:0006484 usual ductal breast hyperplasia MONDO:0004007 NCIT:C27941 NCIT:C27942 breast intraductal proliferative lesion MONDO:0006485 uterine carcinosarcoma MONDO:0002715 NCIT:C42700 NCIT:C3552 uterine cancer MONDO:0006486 uveal melanoma MONDO:0002659 NCIT:C7712 NCIT:C6105 uveal cancer MONDO:0006486 uveal melanoma MONDO:0006325 NCIT:C7712 NCIT:C8562 ocular melanoma MONDO:0006487 vaginal adenoid cystic carcinoma MONDO:0004971 NCIT:C40261 NCIT:C2970 adenoid cystic carcinoma MONDO:0006488 vaginal carcinosarcoma MONDO:0037746 NCIT:C40278 NCIT:C40276 malignant vaginal mixed epithelial and mesenchymal neoplasm MONDO:0006490 vaginal squamous cell carcinoma MONDO:0001806 NCIT:C180915 NCIT:C40242 vaginal squamous tumor MONDO:0006490 vaginal squamous cell carcinoma MONDO:0005096 NCIT:C180915 NCIT:C2929 squamous cell carcinoma MONDO:0006490 vaginal squamous cell carcinoma MONDO:0015867 NCIT:C180915 NCIT:C3917 vaginal carcinoma MONDO:0006493 Warthin tumor MONDO:0036976 NCIT:C2854 NCIT:C4092 benign epithelial neoplasm MONDO:0006498 adenomatous colon polyp MONDO:0000527 NCIT:C96479 NCIT:C3864 colon adenoma MONDO:0006498 adenomatous colon polyp MONDO:0021400 NCIT:C96479 NCIT:C2954 polyp of colon MONDO:0006500 hemangioma MONDO:0024286 NCIT:C3085 NCIT:C8537 benign blood vessel neoplasm MONDO:0006509 papillary carcinoma MONDO:0004993 NCIT:C2927 NCIT:C2916 carcinoma MONDO:0006509 papillary carcinoma MONDO:0021096 NCIT:C2927 NCIT:C8429 papillary epithelial neoplasm MONDO:0006517 childhood malignant neoplasm MONDO:0004992 NCIT:C4005 NCIT:C9305 cancer MONDO:0006517 childhood malignant neoplasm MONDO:0021079 NCIT:C4005 NCIT:C6283 childhood neoplasm MONDO:0006519 rectal cancer MONDO:0002165 NCIT:C7418 NCIT:C3350 rectal neoplasm MONDO:0006519 rectal cancer MONDO:0005575 NCIT:C7418 NCIT:C4978 colorectal cancer MONDO:0006539 diffuse lipomatosis MONDO:0006574 NCIT:C6504 NCIT:C3193 lipomatosis MONDO:0006557 hemangioma of subcutaneous tissue MONDO:0006500 NCIT:C8540 NCIT:C3085 hemangioma MONDO:0006563 inverted follicular keratosis MONDO:0008420 NCIT:C9007 NCIT:C9006 seborrheic keratosis MONDO:0006574 lipomatosis MONDO:0044983 NCIT:C3193 NCIT:C4502 benign lipomatous neoplasm MONDO:0006578 mediastinal lipomatosis MONDO:0006574 NCIT:C27488 NCIT:C3193 lipomatosis MONDO:0006593 pelvic lipomatosis MONDO:0006574 NCIT:C27486 NCIT:C3193 lipomatosis MONDO:0006612 steroid lipomatosis MONDO:0006574 NCIT:C27487 NCIT:C3193 lipomatosis MONDO:0006621 vulvar inverted follicular keratosis MONDO:0006563 NCIT:C40291 NCIT:C9007 inverted follicular keratosis MONDO:0006621 vulvar inverted follicular keratosis MONDO:0006622 NCIT:C40291 NCIT:C6375 vulvar seborrheic keratosis MONDO:0006622 vulvar seborrheic keratosis MONDO:0002195 NCIT:C6375 NCIT:C40283 vulvar squamous neoplasm MONDO:0006622 vulvar seborrheic keratosis MONDO:0008420 NCIT:C6375 NCIT:C9006 seborrheic keratosis MONDO:0006639 adrenal cortex carcinoma MONDO:0021312 NCIT:C9325 NCIT:C9327 malignant tumor of adrenal cortex MONDO:0006646 angioleiomyoma MONDO:0003342 NCIT:C3747 NCIT:C6529 benign perivascular tumor MONDO:0006700 choroid cancer MONDO:0002659 NCIT:C3566 NCIT:C6105 uveal cancer MONDO:0006700 choroid cancer MONDO:0021258 NCIT:C3566 NCIT:C2949 choroid neoplasm MONDO:0006717 cutaneous fibrous histiocytoma MONDO:0002989 NCIT:C6801 NCIT:C3739 benign fibrous histiocytoma MONDO:0006734 benign duodenal neoplasm MONDO:0021375 NCIT:C4775 NCIT:C2995 tumor of duodenum MONDO:0006734 benign duodenal neoplasm MONDO:0021501 NCIT:C4775 NCIT:C3600 benign neoplasm of small intestine MONDO:0006738 eccrine acrospiroma MONDO:0021489 NCIT:C27273 NCIT:C4879 benign neoplasm of sweat gland MONDO:0006749 mixed epithelioid and spindle cell melanoma MONDO:0005105 NCIT:C66756 NCIT:C3224 melanoma MONDO:0006787 hidrocystoma MONDO:0021489 NCIT:C3760 NCIT:C4879 benign neoplasm of sweat gland MONDO:0006801 ileal neoplasm MONDO:0004251 NCIT:C3130 NCIT:C4432 small intestine neoplasm MONDO:0006804 inflammatory breast carcinoma MONDO:0004988 NCIT:C4001 NCIT:C5214 breast adenocarcinoma MONDO:0006804 inflammatory breast carcinoma MONDO:0006256 NCIT:C4001 NCIT:C9245 invasive breast carcinoma MONDO:0006815 jejunal cancer MONDO:0000956 NCIT:C170919 NCIT:C7523 small intestine cancer MONDO:0006815 jejunal cancer MONDO:0002564 NCIT:C170919 NCIT:C8401 jejunal neoplasm MONDO:0006817 juxtacortical osteosarcoma MONDO:0002628 NCIT:C8969 NCIT:C7134 peripheral osteosarcoma MONDO:0006834 lip cancer MONDO:0021249 NCIT:C7485 NCIT:C3191 lip neoplasm MONDO:0006841 lymphangioendothelioma MONDO:0002013 NCIT:C3203 NCIT:C8965 lymphangioma MONDO:0006842 lymphangiomyoma MONDO:0006359 NCIT:C3204 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0006850 maxillary sinus neoplasm MONDO:0005289 NCIT:C3219 NCIT:C7488 paranasal sinus neoplasm MONDO:0006853 mesenchymal chondrosarcoma MONDO:0006974 NCIT:C3737 NCIT:C3746 small cell sarcoma MONDO:0006853 mesenchymal chondrosarcoma MONDO:0008977 NCIT:C3737 NCIT:C2946 chondrosarcoma MONDO:0006859 mucinous cystadenoma MONDO:0002369 NCIT:C2973 NCIT:C2972 cystadenoma MONDO:0006859 mucinous cystadenoma MONDO:0024338 NCIT:C2973 NCIT:C7070 mucinous neoplasm MONDO:0006863 myxosarcoma MONDO:0018078 NCIT:C3255 NCIT:C9306 soft tissue sarcoma MONDO:0006883 malignant superior sulcus neoplasm MONDO:0008903 NCIT:C7527 NCIT:C7377 lung cancer MONDO:0006883 malignant superior sulcus neoplasm MONDO:0024813 NCIT:C7527 NCIT:C27710 pulmonary sulcus neoplasm MONDO:0006890 parathyroid gland adenoma MONDO:0004972 NCIT:C156757 NCIT:C2855 adenoma MONDO:0006890 parathyroid gland adenoma MONDO:0021463 NCIT:C156757 NCIT:C3630 benign neoplasm of parathyroid gland MONDO:0006895 penile neoplasm MONDO:0002036 NCIT:C3317 NCIT:C26846 penile disorder MONDO:0006895 penile neoplasm MONDO:0024582 NCIT:C3317 NCIT:C3054 male reproductive system neoplasm MONDO:0006907 pilar sheath acanthoma MONDO:0002093 NCIT:C4468 NCIT:C7419 acanthoma MONDO:0006962 sebaceous adenocarcinoma MONDO:0004970 NCIT:C40310 NCIT:C2852 adenocarcinoma MONDO:0006962 sebaceous adenocarcinoma MONDO:0006973 NCIT:C40310 NCIT:C3775 skin appendage carcinoma MONDO:0006962 sebaceous adenocarcinoma MONDO:0037735 NCIT:C40310 NCIT:C8409 sebaceous gland cancer MONDO:0006963 sebaceous gland neoplasm MONDO:0002297 NCIT:C3363 NCIT:C4463 epidermal appendage tumor MONDO:0006973 skin appendage carcinoma MONDO:0002656 NCIT:C3775 NCIT:C4914 skin carcinoma MONDO:0006974 small cell sarcoma MONDO:0005089 NCIT:C3746 NCIT:C9118 sarcoma MONDO:0006975 smooth muscle tumor MONDO:0021545 NCIT:C3751 NCIT:C4063 myomatous neoplasm MONDO:0006980 struma ovarii MONDO:0002372 NCIT:C7468 NCIT:C8113 ovarian monodermal and highly specialized teratoma MONDO:0006998 tonsil cancer MONDO:0021250 NCIT:C7404 NCIT:C3417 tonsil neoplasm MONDO:0007033 abducens nerve palsy MONDO:0002782 NCIT:C27592 NCIT:C26941 cranial nerve palsy MONDO:0007033 abducens nerve palsy MONDO:0020594 NCIT:C27592 NCIT:C27593 abducens nerve disorder MONDO:0007108 anal canal carcinoma MONDO:0003199 NCIT:C7489 NCIT:C9291 anal carcinoma MONDO:0007243 Burkitt lymphoma MONDO:0017595 NCIT:C2912 NCIT:C178541 aggressive B-cell non-Hodgkin lymphoma MONDO:0007254 breast cancer MONDO:0021100 NCIT:C9335 NCIT:C2910 breast neoplasm MONDO:0007256 hepatocellular carcinoma MONDO:0004970 NCIT:C3099 NCIT:C2852 adenocarcinoma MONDO:0007256 hepatocellular carcinoma MONDO:0018531 NCIT:C3099 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017169 NCIT:C3225 NCIT:C6432 multiple endocrine neoplasia MONDO:0007576 esophageal cancer MONDO:0002516 NCIT:C7478 NCIT:C4890 digestive system cancer MONDO:0007576 esophageal cancer MONDO:0021355 NCIT:C7478 NCIT:C3028 neoplasm of esophagus MONDO:0007608 desmoid tumor MONDO:0005031 NCIT:C9182 NCIT:C3042 fibromatosis MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0005017 NCIT:C43295 NCIT:C9159 diffuse gastric adenocarcinoma MONDO:0007650 MALT lymphoma MONDO:0017604 NCIT:C3898 NCIT:C4341 marginal zone lymphoma MONDO:0007886 uterine corpus leiomyoma MONDO:0001572 NCIT:C3434 NCIT:C3157 leiomyoma MONDO:0007886 uterine corpus leiomyoma MONDO:0021525 NCIT:C3434 NCIT:C3608 benign neoplasm of corpus uteri MONDO:0007888 hereditary leiomyomatosis and renal cell cancer MONDO:0015356 NCIT:C51302 NCIT:C3266 hereditary neoplastic syndrome MONDO:0007908 multiple symmetric lipomatosis MONDO:0006574 NCIT:C4392 NCIT:C3193 lipomatosis MONDO:0007950 mastocytosis MONDO:0002724 NCIT:C84269 NCIT:C9295 mast cell neoplasm MONDO:0007958 familial medullary thyroid carcinoma MONDO:0015277 NCIT:C46099 NCIT:C3879 medullary thyroid gland carcinoma MONDO:0008075 schwannomatosis MONDO:0002546 NCIT:C6557 NCIT:C3269 schwannoma MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0019003 NCIT:C3227 NCIT:C123329 multiple endocrine neoplasia type 2 MONDO:0008167 dermoid cyst of ovary MONDO:0002378 NCIT:C3856 NCIT:C9011 dermoid cyst MONDO:0008167 dermoid cyst of ovary MONDO:0003281 NCIT:C3856 NCIT:C7283 ovarian cystic teratoma MONDO:0008168 ovarian fibroma MONDO:0005167 NCIT:C3498 NCIT:C3041 fibroma MONDO:0008170 ovarian cancer MONDO:0001416 NCIT:C7431 NCIT:C4913 female reproductive organ cancer MONDO:0008170 ovarian cancer MONDO:0021068 NCIT:C7431 NCIT:C4984 ovarian neoplasm MONDO:0008177 extramammary Paget disease MONDO:0021165 NCIT:C3302 NCIT:C7073 Paget disease MONDO:0008231 Peyronie disease MONDO:0016037 NCIT:C3316 NCIT:C6814 superficial Fibromatosis MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0019003 NCIT:C3226 NCIT:C123329 multiple endocrine neoplasia type 2 MONDO:0008274 polyostotic fibrous dysplasia MONDO:0000845 NCIT:C34610 NCIT:C34609 fibrous dysplasia MONDO:0008315 prostate cancer MONDO:0005836 NCIT:C7378 NCIT:C8561 male reproductive organ cancer MONDO:0008315 prostate cancer MONDO:0021259 NCIT:C7378 NCIT:C3343 prostate neoplasm MONDO:0008401 pleomorphic adenoma MONDO:0021043 NCIT:C8602 NCIT:C6930 mixed neoplasm MONDO:0008433 small cell lung carcinoma MONDO:0000402 NCIT:C4917 NCIT:C3915 small cell carcinoma MONDO:0008583 inherited torticollis MONDO:0005031 NCIT:C4811 NCIT:C3042 fibromatosis MONDO:0008627 ureter cancer MONDO:0006295 NCIT:C7543 NCIT:C192668 malignant urinary system neoplasm MONDO:0008627 ureter cancer MONDO:0021111 NCIT:C7543 NCIT:C3427 ureter neoplasm MONDO:0008903 lung cancer MONDO:0000376 NCIT:C7377 NCIT:C4571 respiratory system cancer MONDO:0008903 lung cancer MONDO:0003274 NCIT:C7377 NCIT:C3576 thoracic cancer MONDO:0008903 lung cancer MONDO:0021117 NCIT:C7377 NCIT:C3200 lung neoplasm MONDO:0008977 chondrosarcoma MONDO:0005089 NCIT:C2946 NCIT:C9118 sarcoma MONDO:0008978 chordoma MONDO:0002597 NCIT:C2947 NCIT:C7063 notochordal tumor MONDO:0009227 myofibromatosis, infantile, 1 MONDO:0016824 NCIT:C176943 NCIT:C3742 infantile myofibromatosis MONDO:0009330 hemangiopericytoma, malignant MONDO:0005094 NCIT:C4301 NCIT:C3087 hemangiopericytoma MONDO:0009348 classic Hodgkin lymphoma MONDO:0004952 NCIT:C7164 NCIT:C9357 Hodgkins lymphoma MONDO:0009691 mycosis fungoides MONDO:0000607 NCIT:C3246 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0009693 plasma cell myeloma MONDO:0004959 NCIT:C3242 NCIT:C4665 plasma cell neoplasm MONDO:0009755 neutrophil actin dysfunction MONDO:0005073 NCIT:C3694 NCIT:C7570 melanocytic nevus MONDO:0009761 cystic hygroma MONDO:0002013 NCIT:C3724 NCIT:C8965 lymphangioma MONDO:0009807 osteosarcoma MONDO:0005089 NCIT:C9145 NCIT:C9118 sarcoma MONDO:0009808 osteoid osteoma MONDO:0000631 NCIT:C3297 NCIT:C4880 bone benign neoplasm MONDO:0009808 osteoid osteoma MONDO:0045052 NCIT:C3297 NCIT:C6602 benign osteogenic neoplasm MONDO:0009831 malignant pancreatic neoplasm MONDO:0002516 NCIT:C9005 NCIT:C4890 digestive system cancer MONDO:0009831 malignant pancreatic neoplasm MONDO:0021040 NCIT:C9005 NCIT:C3305 pancreatic neoplasm MONDO:0009837 choroid plexus papilloma MONDO:0002363 NCIT:C3698 NCIT:C7440 papilloma MONDO:0009837 choroid plexus papilloma MONDO:0044764 NCIT:C3698 NCIT:C8405 benign choroid plexus neoplasm MONDO:0009891 acquired polycythemia vera MONDO:0020703 NCIT:C3336 NCIT:C7064 erythroid neoplasm MONDO:0009993 embryonal rhabdomyosarcoma MONDO:0005212 NCIT:C8971 NCIT:C3359 rhabdomyosarcoma MONDO:0009994 alveolar rhabdomyosarcoma MONDO:0005212 NCIT:C3749 NCIT:C3359 rhabdomyosarcoma MONDO:0010108 testicular germ cell tumor MONDO:0021348 NCIT:C8591 NCIT:C3404 neoplasm of testis MONDO:0010150 head and neck squamous cell carcinoma MONDO:0002038 NCIT:C34447 NCIT:C35850 head and neck carcinoma MONDO:0010150 head and neck squamous cell carcinoma MONDO:0005096 NCIT:C34447 NCIT:C2929 squamous cell carcinoma MONDO:0010434 synovial sarcoma MONDO:0018078 NCIT:C3400 NCIT:C9306 soft tissue sarcoma MONDO:0010643 acute leukemia MONDO:0005059 NCIT:C9300 NCIT:C3161 leukemia MONDO:0010768 gonadoblastoma MONDO:0002478 NCIT:C3754 NCIT:C5241 mixed germ cell-sex cord-stromal tumor MONDO:0010795 oncocytic neoplasm MONDO:0024276 NCIT:C7072 NCIT:C7132 glandular cell neoplasm MONDO:0011191 capillary infantile hemangioma MONDO:0002407 NCIT:C6645 NCIT:C7457 capillary hemangioma MONDO:0011366 ovarian germ cell tumor MONDO:0005040 NCIT:C3873 NCIT:C3708 germ cell tumor MONDO:0011366 ovarian germ cell tumor MONDO:0021068 NCIT:C3873 NCIT:C4984 ovarian neoplasm MONDO:0011465 infundibulocystic basal cell carcinoma MONDO:0005341 NCIT:C27540 NCIT:C2921 skin basal cell carcinoma MONDO:0011655 alveolar soft part sarcoma MONDO:0018078 NCIT:C3750 NCIT:C9306 soft tissue sarcoma MONDO:0011705 lymphangioleiomyomatosis MONDO:0006359 NCIT:C3725 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0011789 familial meningioma MONDO:0016642 NCIT:C5301 NCIT:C3230 meningioma MONDO:0011836 thyroid Hurthle cell carcinoma MONDO:0005034 NCIT:C4946 NCIT:C8054 thyroid gland follicular carcinoma MONDO:0011927 tufted angioma MONDO:0003110 NCIT:C4487 NCIT:C4905 skin hemangioma MONDO:0011962 endometrial cancer MONDO:0021251 NCIT:C27815 NCIT:C3012 endometrium neoplasm MONDO:0011996 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0004643 NCIT:C3174 NCIT:C3172 myeloid leukemia MONDO:0012004 parathyroid gland carcinoma MONDO:0004970 NCIT:C4906 NCIT:C2852 adenocarcinoma MONDO:0012004 parathyroid gland carcinoma MONDO:0021311 NCIT:C4906 NCIT:C9322 malignant tumor of parathyroid gland MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0017169 NCIT:C157449 NCIT:C6432 multiple endocrine neoplasia MONDO:0012817 Ewing sarcoma MONDO:0005089 NCIT:C4817 NCIT:C9118 sarcoma MONDO:0012817 Ewing sarcoma MONDO:0021038 NCIT:C4817 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0012825 extraskeletal myxoid chondrosarcoma MONDO:0018078 NCIT:C27502 NCIT:C9306 soft tissue sarcoma MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0006574 NCIT:C4701 NCIT:C3193 lipomatosis MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement MONDO:0015688 NCIT:C84277 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0014122 myofibromatosis, infantile, 2 MONDO:0016824 NCIT:C176944 NCIT:C3742 infantile myofibromatosis MONDO:0014299 LZTR1-related schwannomatosis MONDO:0008075 NCIT:C186704 NCIT:C6557 schwannomatosis MONDO:0015031 extraneural perineurioma MONDO:0019404 NCIT:C6912 NCIT:C4973 perineurioma MONDO:0015032 intraneural perineurioma MONDO:0019404 NCIT:C6911 NCIT:C4973 perineurioma MONDO:0015044 mu-heavy chain disease MONDO:0019464 NCIT:C3892 NCIT:C3082 heavy chain disease MONDO:0015045 alpha-heavy chain disease MONDO:0019464 NCIT:C3132 NCIT:C3082 heavy chain disease MONDO:0015046 gamma-heavy chain disease MONDO:0019464 NCIT:C3083 NCIT:C3082 heavy chain disease MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0000386 NCIT:C95871 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0003111 NCIT:C95871 NCIT:C5696 gastric neuroendocrine neoplasm MONDO:0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0002995 NCIT:C135080 NCIT:C96061 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0002564 NCIT:C135090 NCIT:C8401 jejunal neoplasm MONDO:0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0002995 NCIT:C135090 NCIT:C96061 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0002995 NCIT:C135092 NCIT:C96061 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0006801 NCIT:C135092 NCIT:C3130 ileal neoplasm MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0024501 NCIT:C96422 NCIT:C60709 appendix neuroendocrine neoplasm MONDO:0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor MONDO:0002882 NCIT:C135212 NCIT:C5697 colon neuroendocrine neoplasm MONDO:0015068 rectal neuroendocrine tumor MONDO:0003646 NCIT:C135213 NCIT:C5698 rectum neuroendocrine neoplasm MONDO:0015069 neuroendocrine tumor of the anal canal MONDO:0003504 NCIT:C96540 NCIT:C5603 anal canal neuroendocrine neoplasm MONDO:0015070 laryngeal neuroendocrine neoplasm MONDO:0021071 NCIT:C6023 NCIT:C3156 laryngeal neoplasm MONDO:0015072 liver neuroendocrine carcinoma MONDO:0018531 NCIT:C96787 NCIT:C7927 carcinoma of liver and intrahepatic biliary tract MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0000386 NCIT:C96918 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0015073 gallbladder neuroendocrine tumor, grade 1/2 MONDO:0024502 NCIT:C96918 NCIT:C96917 gallbladder neuroendocrine neoplasm MONDO:0015074 thyroid tumor MONDO:0003240 NCIT:C3414 NCIT:C26893 thyroid gland disorder MONDO:0015075 thyroid gland carcinoma MONDO:0002108 NCIT:C4815 NCIT:C7510 thyroid cancer MONDO:0015278 familial pancreatic carcinoma MONDO:0005192 NCIT:C43298 NCIT:C3850 exocrine pancreatic carcinoma MONDO:0015403 non-involuting congenital hemangioma MONDO:0018715 NCIT:C172208 NCIT:C3841 congenital hemangioma MONDO:0015404 rapidly involuting congenital hemangioma MONDO:0018715 NCIT:C172207 NCIT:C3841 congenital hemangioma MONDO:0015459 nasopharyngeal carcinoma MONDO:0021315 NCIT:C3871 NCIT:C9321 malignant tumor of nasopharynx MONDO:0015459 nasopharyngeal carcinoma MONDO:0021345 NCIT:C3871 NCIT:C9466 carcinoma of pharynx MONDO:0015523 epithelioid hemangioendothelioma MONDO:0002095 NCIT:C3800 NCIT:C8538 vascular cancer MONDO:0015523 epithelioid hemangioendothelioma MONDO:0021121 NCIT:C3800 NCIT:C3084 hemangioendothelioma MONDO:0015538 indeterminate dendritic cell tumor MONDO:0006247 NCIT:C81767 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0015558 isolated bone marrow mastocytosis MONDO:0020331 NCIT:C198573 NCIT:C9286 indolent systemic mastocytosis MONDO:0015667 acute myeloid leukemia by FAB classification MONDO:0018874 NCIT:C27753 NCIT:C3171 acute myeloid leukemia MONDO:0015687 chronic eosinophilic leukemia MONDO:0001014 NCIT:C4563 NCIT:C3483 chronic leukemia MONDO:0015687 chronic eosinophilic leukemia MONDO:0020076 NCIT:C4563 NCIT:C4345 myeloproliferative neoplasm MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0044881 NCIT:C84270 NCIT:C27134 hematopoietic and lymphoid cell neoplasm MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement MONDO:0015688 NCIT:C84275 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement MONDO:0015688 NCIT:C84276 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015759 B-cell non-Hodgkin lymphoma MONDO:0018908 NCIT:C3457 NCIT:C3211 non-Hodgkin lymphoma MONDO:0015760 T-cell non-Hodgkin lymphoma MONDO:0018908 NCIT:C3466 NCIT:C3211 non-Hodgkin lymphoma MONDO:0015808 folliculotropic mycosis fungoides MONDO:0045071 NCIT:C35685 NCIT:C39644 mycosis fungoides variant MONDO:0015809 localized pagetoid reticulosis MONDO:0045071 NCIT:C35794 NCIT:C39644 mycosis fungoides variant MONDO:0015864 mixed germ cell tumor MONDO:0006290 NCIT:C4290 NCIT:C4925 malignant germ cell tumor MONDO:0015867 vaginal carcinoma MONDO:0001402 NCIT:C3917 NCIT:C7410 vaginal cancer MONDO:0015871 benign breast phyllodes tumor MONDO:0000620 NCIT:C5196 NCIT:C4505 breast benign neoplasm MONDO:0015871 benign breast phyllodes tumor MONDO:0021047 NCIT:C5196 NCIT:C7575 breast phyllodes tumor MONDO:0015871 benign breast phyllodes tumor MONDO:0037002 NCIT:C5196 NCIT:C4274 benign phyllodes tumor MONDO:0015873 Paget disease of the nipple MONDO:0002648 NCIT:C3301 NCIT:C47857 mammary Paget disease MONDO:0015873 Paget disease of the nipple MONDO:0003950 NCIT:C3301 NCIT:C28432 nipple carcinoma MONDO:0016037 superficial Fibromatosis MONDO:0005031 NCIT:C6814 NCIT:C3042 fibromatosis MONDO:0016038 calcified aponeurotic fibroma MONDO:0005167 NCIT:C4818 NCIT:C3041 fibroma MONDO:0016093 borderline epithelial tumor of ovary MONDO:0002229 NCIT:C4783 NCIT:C4381 ovarian epithelial tumor MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0002140 NCIT:C128080 NCIT:C7737 vagina sarcoma MONDO:0016095 vaginal rhabdomyosarcoma MONDO:0005212 NCIT:C128080 NCIT:C3359 rhabdomyosarcoma MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0003408 NCIT:C102870 NCIT:C39986 ovarian primitive germ cell tumor MONDO:0016096 malignant non-dysgerminomatous germ cell tumor of ovary MONDO:0021656 NCIT:C102870 NCIT:C121619 nongerminomatous germ cell tumor MONDO:0016167 optic pathway glioma MONDO:0021042 NCIT:C8567 NCIT:C3059 glioma MONDO:0016216 adult hepatocellular carcinoma MONDO:0007256 NCIT:C7956 NCIT:C3099 hepatocellular carcinoma MONDO:0016222 spindle cell hemangioma MONDO:0006500 NCIT:C4754 NCIT:C3085 hemangioma MONDO:0016236 kaposiform hemangioendothelioma MONDO:0021121 NCIT:C27510 NCIT:C3084 hemangioendothelioma MONDO:0016238 solitary fibrous tumor MONDO:0006209 NCIT:C7634 NCIT:C7075 fibroblastic neoplasm MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0021043 NCIT:C40181 NCIT:C6930 mixed neoplasm MONDO:0016255 uterine corpus mixed epithelial and mesenchymal neoplasm MONDO:0021254 NCIT:C40181 NCIT:C6300 corpus uteri neoplasm MONDO:0016258 uterine corpus carcinofibroma MONDO:0002879 NCIT:C40182 NCIT:C6311 uterine body mixed cancer MONDO:0016259 carcinosarcoma of the corpus uteri MONDO:0002879 NCIT:C9180 NCIT:C6311 uterine body mixed cancer MONDO:0016259 carcinosarcoma of the corpus uteri MONDO:0006485 NCIT:C9180 NCIT:C42700 uterine carcinosarcoma MONDO:0016260 uterine corpus rhabdomyosarcoma MONDO:0005210 NCIT:C127058 NCIT:C6339 uterine corpus sarcoma MONDO:0016260 uterine corpus rhabdomyosarcoma MONDO:0005212 NCIT:C127058 NCIT:C3359 rhabdomyosarcoma MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005058 NCIT:C6340 NCIT:C3158 leiomyosarcoma MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005210 NCIT:C6340 NCIT:C6339 uterine corpus sarcoma MONDO:0016270 low-grade neuroendocrine tumor of the corpus uteri MONDO:0021650 NCIT:C126773 NCIT:C126771 uterine corpus neuroendocrine neoplasm MONDO:0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO:0002974 NCIT:C40228 NCIT:C9311 cervical cancer MONDO:0016282 rhabdomyosarcoma of the cervix uteri MONDO:0005212 NCIT:C128048 NCIT:C3359 rhabdomyosarcoma MONDO:0016283 leiomyosarcoma of the cervix uteri MONDO:0005058 NCIT:C128047 NCIT:C3158 leiomyosarcoma MONDO:0016419 hereditary breast carcinoma MONDO:0004989 NCIT:C4503 NCIT:C4872 breast carcinoma MONDO:0016505 aldosterone-producing adrenal cortex adenoma MONDO:0003924 NCIT:C48451 NCIT:C9003 adrenal cortex adenoma MONDO:0016586 systemic mastocytosis MONDO:0007950 NCIT:C9235 NCIT:C84269 mastocytosis MONDO:0016611 lipoblastoma MONDO:0044983 NCIT:C27483 NCIT:C4502 benign lipomatous neoplasm MONDO:0016642 meningioma MONDO:0016743 NCIT:C3230 NCIT:C3229 tumor of meninges MONDO:0016680 high grade astrocytic tumor MONDO:0021636 NCIT:C102897 NCIT:C6958 astrocytic tumor MONDO:0016680 high grade astrocytic tumor MONDO:0100342 NCIT:C102897 NCIT:C4822 malignant glioma MONDO:0016684 anaplastic astrocytoma MONDO:0016680 NCIT:C9477 NCIT:C102897 high grade astrocytic tumor MONDO:0016684 anaplastic astrocytoma MONDO:0019781 NCIT:C9477 NCIT:C60781 astrocytoma (excluding glioblastoma) MONDO:0016684 anaplastic astrocytoma MONDO:0020633 NCIT:C9477 NCIT:C36025 anaplastic cancer MONDO:0016686 diffuse astrocytoma MONDO:0021639 NCIT:C7173 NCIT:C132505 grade II glioma MONDO:0016687 protoplasmic astrocytoma MONDO:0016686 NCIT:C4320 NCIT:C7173 diffuse astrocytoma MONDO:0016688 fibrillary astrocytoma MONDO:0016686 NCIT:C4322 NCIT:C7173 diffuse astrocytoma MONDO:0016689 gemistocytic astrocytoma MONDO:0016686 NCIT:C4321 NCIT:C7173 diffuse astrocytoma MONDO:0016695 oligodendroglioma MONDO:0018744 NCIT:C3288 NCIT:C6960 oligodendroglial tumor MONDO:0016695 oligodendroglioma MONDO:0021639 NCIT:C3288 NCIT:C132505 grade II glioma MONDO:0016696 anaplastic oligodendroglioma MONDO:0018744 NCIT:C4326 NCIT:C6960 oligodendroglial tumor MONDO:0016696 anaplastic oligodendroglioma MONDO:0020633 NCIT:C4326 NCIT:C36025 anaplastic cancer MONDO:0016696 anaplastic oligodendroglioma MONDO:0021640 NCIT:C4326 NCIT:C127816 grade III glioma MONDO:0016698 ependymoma MONDO:0003266 NCIT:C3017 NCIT:C6770 ependymal tumor MONDO:0016698 ependymoma MONDO:0021639 NCIT:C3017 NCIT:C132505 grade II glioma MONDO:0016699 myxopapillary ependymoma MONDO:0003266 NCIT:C3697 NCIT:C6770 ependymal tumor MONDO:0016700 anaplastic ependymoma MONDO:0003266 NCIT:C4049 NCIT:C6770 ependymal tumor MONDO:0016700 anaplastic ependymoma MONDO:0020633 NCIT:C4049 NCIT:C36025 anaplastic cancer MONDO:0016700 anaplastic ependymoma MONDO:0021640 NCIT:C4049 NCIT:C127816 grade III glioma MONDO:0016702 oligoastrocytoma MONDO:0003268 NCIT:C4050 NCIT:C3903 mixed glioma MONDO:0016702 oligoastrocytoma MONDO:0021639 NCIT:C4050 NCIT:C132505 grade II glioma MONDO:0016703 anaplastic oligoastrocytoma MONDO:0005853 NCIT:C6959 NCIT:C3729 malignant mixed neoplasm MONDO:0016703 anaplastic oligoastrocytoma MONDO:0020633 NCIT:C6959 NCIT:C36025 anaplastic cancer MONDO:0016703 anaplastic oligoastrocytoma MONDO:0021640 NCIT:C6959 NCIT:C127816 grade III glioma MONDO:0016706 chordoid glioma of the third ventricle MONDO:0002682 NCIT:C5592 NCIT:C2937 cerebral ventricle cancer MONDO:0016707 astroblastoma MONDO:0021042 NCIT:C4324 NCIT:C3059 glioma MONDO:0016709 anaplastic/large cell medulloblastoma MONDO:0007959 NCIT:C129436 NCIT:C3222 medulloblastoma MONDO:0016710 medulloblastoma with extensive nodularity MONDO:0007959 NCIT:C5407 NCIT:C3222 medulloblastoma MONDO:0016711 desmoplastic/nodular medulloblastoma MONDO:0007959 NCIT:C4956 NCIT:C3222 medulloblastoma MONDO:0016712 classic medulloblastoma MONDO:0007959 NCIT:C54039 NCIT:C3222 medulloblastoma MONDO:0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021038 NCIT:C129537 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0016718 choroid plexus carcinoma MONDO:0002681 NCIT:C4715 NCIT:C4533 choroid plexus cancer MONDO:0016722 pineoblastoma MONDO:0003249 NCIT:C9344 NCIT:C3573 pineal gland cancer MONDO:0016723 pineocytoma MONDO:0024890 NCIT:C6966 NCIT:C6965 pineal parenchymal cell neoplasm MONDO:0016724 papillary tumor of the pineal region MONDO:0021193 NCIT:C92624 NCIT:C3787 neuroepithelial neoplasm MONDO:0016724 papillary tumor of the pineal region MONDO:0021232 NCIT:C92624 NCIT:C3328 pineal body neoplasm MONDO:0016727 extraventricular neurocytoma MONDO:0016729 NCIT:C92555 NCIT:C4747 mixed neuronal-glial tumor MONDO:0016729 mixed neuronal-glial tumor MONDO:0021193 NCIT:C4747 NCIT:C3787 neuroepithelial neoplasm MONDO:0016730 gangliocytoma MONDO:0016729 NCIT:C6934 NCIT:C4747 mixed neuronal-glial tumor MONDO:0016733 ganglioglioma MONDO:0016729 NCIT:C3788 NCIT:C4747 mixed neuronal-glial tumor MONDO:0016735 papillary glioneuronal tumor MONDO:0016729 NCIT:C92554 NCIT:C4747 mixed neuronal-glial tumor MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule MONDO:0016729 NCIT:C129431 NCIT:C4747 mixed neuronal-glial tumor MONDO:0016739 yolk sac tumor of central nervous system MONDO:0005744 NCIT:C7011 NCIT:C3011 yolk sac tumor MONDO:0016740 choriocarcinoma of the central nervous system MONDO:0003578 NCIT:C7012 NCIT:C8885 extragonadal nonseminomatous germ cell tumor MONDO:0016740 choriocarcinoma of the central nervous system MONDO:0005207 NCIT:C7012 NCIT:C2948 choriocarcinoma MONDO:0016740 choriocarcinoma of the central nervous system MONDO:0020574 NCIT:C7012 NCIT:C100093 central nervous system nongerminomatous germ cell tumor MONDO:0016743 tumor of meninges MONDO:0006130 NCIT:C3229 NCIT:C9293 central nervous system neoplasm MONDO:0016755 neurofibroma MONDO:0002547 NCIT:C3272 NCIT:C4972 nerve sheath neoplasm MONDO:0016787 epithelioid trophoblastic tumor MONDO:0018944 NCIT:C6900 NCIT:C4699 gestational trophoblastic neoplasm MONDO:0016824 infantile myofibromatosis MONDO:0003342 NCIT:C3742 NCIT:C6529 benign perivascular tumor MONDO:0016974 thymoma type B MONDO:0006456 NCIT:C7114 NCIT:C3411 thymoma MONDO:0016975 thymoma type AB MONDO:0006456 NCIT:C6885 NCIT:C3411 thymoma MONDO:0016982 angiosarcoma MONDO:0002095 NCIT:C3088 NCIT:C8538 vascular cancer MONDO:0017025 Langerhans cell histiocytosis specific to childhood MONDO:0018310 NCIT:C114483 NCIT:C3107 Langerhans cell histiocytosis MONDO:0017029 Langerhans cell histiocytosis specific to adulthood MONDO:0018310 NCIT:C114929 NCIT:C3107 Langerhans cell histiocytosis MONDO:0017043 congenital mesoblastic nephroma MONDO:0005564 NCIT:C6569 NCIT:C3264 embryonal neoplasm MONDO:0017043 congenital mesoblastic nephroma MONDO:0036511 NCIT:C6569 NCIT:C123907 childhood malignant kidney neoplasm MONDO:0017048 pseudomyxoma peritonei MONDO:0700336 NCIT:C3345 NCIT:C27382 peritoneal carcinomatosis MONDO:0017050 intraocular medulloepithelioma MONDO:0005564 NCIT:C66806 NCIT:C3264 embryonal neoplasm MONDO:0017207 primary organ-specific lymphoma MONDO:0005062 NCIT:C7185 NCIT:C3208 lymphoma MONDO:0017286 tempi syndrome MONDO:0002254 NCIT:C121656 NCIT:C28193 syndromic disease MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0005061 NCIT:C45509 NCIT:C3512 lung adenocarcinoma MONDO:0017292 well-differentiated fetal adenocarcinoma of the lung MONDO:0005606 NCIT:C45509 NCIT:C65192 tubular adenocarcinoma MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly MONDO:0018905 NCIT:C80281 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0017347 plasmablastic lymphoma MONDO:0018905 NCIT:C7224 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0017349 myopericytoma MONDO:0002604 NCIT:C50401 NCIT:C6528 pericytic neoplasm MONDO:0017386 pleomorphic rhabdomyosarcoma MONDO:0005212 NCIT:C4258 NCIT:C3359 rhabdomyosarcoma MONDO:0017387 epithelioid sarcoma MONDO:0018078 NCIT:C3714 NCIT:C9306 soft tissue sarcoma MONDO:0017582 pituitary adenocarcinoma MONDO:0002109 NCIT:C4536 NCIT:C4769 pituitary cancer MONDO:0017590 carcinoma of the ampulla of vater MONDO:0000919 NCIT:C3908 NCIT:C3536 ampulla of vater cancer MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma MONDO:0015759 NCIT:C178541 NCIT:C3457 B-cell non-Hodgkin lymphoma MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system MONDO:0018905 NCIT:C71720 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma MONDO:0018905 NCIT:C9496 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0017598 primary cutaneous anaplastic large cell lymphoma MONDO:0000607 NCIT:C6860 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0017598 primary cutaneous anaplastic large cell lymphoma MONDO:0018897 NCIT:C6860 NCIT:C7195 primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO:0017598 primary cutaneous anaplastic large cell lymphoma MONDO:0020325 NCIT:C6860 NCIT:C3720 anaplastic large cell lymphoma MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation MONDO:0018905 NCIT:C80289 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0017602 ALK-positive anaplastic large cell lymphoma MONDO:0020325 NCIT:C37193 NCIT:C3720 anaplastic large cell lymphoma MONDO:0017603 ALK-negative anaplastic large cell lymphoma MONDO:0020325 NCIT:C37194 NCIT:C3720 anaplastic large cell lymphoma MONDO:0017604 marginal zone lymphoma MONDO:0017594 NCIT:C4341 NCIT:C171299 indolent B-cell non-Hodgkin lymphoma MONDO:0017611 pituitary tumor MONDO:0002720 NCIT:C3330 NCIT:C4944 sella turcica neoplasm MONDO:0017611 pituitary tumor MONDO:0003381 NCIT:C3330 NCIT:C26854 pituitary gland disorder MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma MONDO:0004950 NCIT:C162304 NCIT:C4911 gastric carcinoma MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma MONDO:0017344 NCIT:C162304 NCIT:C27690 Epstein-Barr virus-associated carcinoma MONDO:0017795 ameloblastoma MONDO:0021192 NCIT:C4313 NCIT:C3286 odontogenic neoplasm MONDO:0017814 primary bone lymphoma MONDO:0002129 NCIT:C6620 NCIT:C4016 bone cancer MONDO:0017814 primary bone lymphoma MONDO:0017207 NCIT:C6620 NCIT:C7185 primary organ-specific lymphoma MONDO:0017826 null pituitary adenoma MONDO:0019613 NCIT:C45924 NCIT:C4348 non-functioning pituitary adenoma MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0002547 NCIT:C3798 NCIT:C4972 nerve sheath neoplasm MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0021089 NCIT:C3798 NCIT:C4961 peripheral nervous system cancer MONDO:0017858 acute erythroid leukemia MONDO:0015667 NCIT:C8923 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0017858 acute erythroid leukemia MONDO:0020703 NCIT:C8923 NCIT:C7064 erythroid neoplasm MONDO:0017884 papillary renal cell carcinoma MONDO:0002512 NCIT:C6975 NCIT:C2853 papillary adenocarcinoma MONDO:0017887 renal cell carcinoma associated with neuroblastoma MONDO:0005549 NCIT:C100051 NCIT:C9385 renal cell adenocarcinoma MONDO:0017893 inherited acute myeloid leukemia MONDO:0018874 NCIT:C7175 NCIT:C3171 acute myeloid leukemia MONDO:0017895 familial papillary or follicular thyroid carcinoma MONDO:0015447 NCIT:C118829 NCIT:C7153 differentiated thyroid carcinoma MONDO:0017907 primary lymphoma of the conjunctiva MONDO:0003454 NCIT:C175432 NCIT:C3564 conjunctival cancer MONDO:0017907 primary lymphoma of the conjunctiva MONDO:0004034 NCIT:C175432 NCIT:C35690 eye lymphoma MONDO:0018031 granulomatous slack skin disease MONDO:0045071 NCIT:C35464 NCIT:C39644 mycosis fungoides variant MONDO:0018055 pediatric hepatocellular carcinoma MONDO:0007256 NCIT:C7955 NCIT:C3099 hepatocellular carcinoma MONDO:0018078 soft tissue sarcoma MONDO:0005089 NCIT:C9306 NCIT:C9118 sarcoma MONDO:0018078 soft tissue sarcoma MONDO:0024637 NCIT:C9306 NCIT:C4867 malignant soft tissue neoplasm MONDO:0018079 thymic epithelial neoplasm MONDO:0005197 NCIT:C6450 NCIT:C3412 thymus neoplasm MONDO:0018079 thymic epithelial neoplasm MONDO:0005626 NCIT:C6450 NCIT:C3709 epithelial neoplasm MONDO:0018160 hereditary retinoblastoma MONDO:0008380 NCIT:C8495 NCIT:C7541 retinoblastoma MONDO:0018171 malignant germ cell tumor of ovary MONDO:0006290 NCIT:C4514 NCIT:C4925 malignant germ cell tumor MONDO:0018171 malignant germ cell tumor of ovary MONDO:0011366 NCIT:C4514 NCIT:C3873 ovarian germ cell tumor MONDO:0018172 malignant sex cord stromal tumor of ovary MONDO:0021657 NCIT:C8053 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0018177 glioblastoma MONDO:0016680 NCIT:C3058 NCIT:C102897 high grade astrocytic tumor MONDO:0018201 extragonadal germ cell tumor MONDO:0005040 NCIT:C3918 NCIT:C3708 germ cell tumor MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0006188 NCIT:C80374 NCIT:C80373 EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0018224 hydroa vacciniforme-like lymphoma MONDO:0006188 NCIT:C45327 NCIT:C80373 EBV-positive T-cell lymphoproliferative disorder of childhood MONDO:0018225 ALK-positive large B-cell lymphoma MONDO:0018905 NCIT:C7225 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0012817 NCIT:C7135 NCIT:C4817 Ewing sarcoma MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0018078 NCIT:C7135 NCIT:C9306 soft tissue sarcoma MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0021039 NCIT:C7135 NCIT:C27293 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0005462 NCIT:C9341 NCIT:C3716 primitive neuroectodermal tumor MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0021038 NCIT:C9341 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0021089 NCIT:C9341 NCIT:C4961 peripheral nervous system cancer MONDO:0018327 glomus tumor MONDO:0002604 NCIT:C3060 NCIT:C6528 pericytic neoplasm MONDO:0018330 mucinous adenocarcinoma of the appendix MONDO:0006087 NCIT:C43558 NCIT:C7718 appendix adenocarcinoma MONDO:0018352 squamous cell carcinoma of penis MONDO:0005096 NCIT:C7729 NCIT:C2929 squamous cell carcinoma MONDO:0018352 squamous cell carcinoma of penis MONDO:0006360 NCIT:C7729 NCIT:C9061 penile carcinoma MONDO:0018364 malignant epithelial tumor of ovary MONDO:0002229 NCIT:C40026 NCIT:C4381 ovarian epithelial tumor MONDO:0018364 malignant epithelial tumor of ovary MONDO:0008170 NCIT:C40026 NCIT:C7431 ovarian cancer MONDO:0018368 primary peritoneal serous/papillary carcinoma MONDO:0006386 NCIT:C7695 NCIT:C40023 primary peritoneal serous adenocarcinoma MONDO:0018369 immature ovarian teratoma MONDO:0003514 NCIT:C39995 NCIT:C4287 malignant teratoma MONDO:0018369 immature ovarian teratoma MONDO:0003821 NCIT:C39995 NCIT:C39992 ovarian biphasic or triphasic teratoma MONDO:0018369 immature ovarian teratoma MONDO:0003821 NCIT:C8111 NCIT:C39992 ovarian biphasic or triphasic teratoma MONDO:0018447 chondromyxoid fibroma MONDO:0000631 NCIT:C3830 NCIT:C4880 bone benign neoplasm MONDO:0018447 chondromyxoid fibroma MONDO:0024470 NCIT:C3830 NCIT:C8592 benign chondrogenic neoplasm MONDO:0018481 undifferentiated carcinoma of esophagus MONDO:0005617 NCIT:C27422 NCIT:C3692 undifferentiated carcinoma MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0003008 NCIT:C36260 NCIT:C39789 hereditary renal cell carcinoma MONDO:0018492 hereditary clear cell renal cell carcinoma MONDO:0005005 NCIT:C36260 NCIT:C4033 clear cell renal carcinoma MONDO:0018504 undifferentiated carcinoma of stomach MONDO:0004950 NCIT:C5476 NCIT:C4911 gastric carcinoma MONDO:0018504 undifferentiated carcinoma of stomach MONDO:0005617 NCIT:C5476 NCIT:C3692 undifferentiated carcinoma MONDO:0018509 squamous cell carcinoma of the small intestine MONDO:0005096 NCIT:C43534 NCIT:C2929 squamous cell carcinoma MONDO:0018509 squamous cell carcinoma of the small intestine MONDO:0005522 NCIT:C43534 NCIT:C7724 small intestine carcinoma MONDO:0018510 small intestine neuroendocrine neoplasm MONDO:0002883 NCIT:C5803 NCIT:C5695 intestinal neuroendocrine neoplasm MONDO:0018510 small intestine neuroendocrine neoplasm MONDO:0004251 NCIT:C5803 NCIT:C4432 small intestine neoplasm MONDO:0018513 squamous cell carcinoma of colon MONDO:0002032 NCIT:C5490 NCIT:C4910 colon carcinoma MONDO:0018513 squamous cell carcinoma of colon MONDO:0006165 NCIT:C5490 NCIT:C43588 colorectal squamous cell carcinoma MONDO:0018515 squamous cell carcinoma of rectum MONDO:0006165 NCIT:C5554 NCIT:C43588 colorectal squamous cell carcinoma MONDO:0018515 squamous cell carcinoma of rectum MONDO:0044937 NCIT:C5554 NCIT:C9382 rectal carcinoma MONDO:0018521 squamous cell carcinoma of pancreas MONDO:0005096 NCIT:C173813 NCIT:C2929 squamous cell carcinoma MONDO:0018521 squamous cell carcinoma of pancreas MONDO:0005192 NCIT:C173813 NCIT:C3850 exocrine pancreatic carcinoma MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0002691 NCIT:C7927 NCIT:C34803 liver cancer MONDO:0018531 carcinoma of liver and intrahepatic biliary tract MONDO:0006181 NCIT:C7927 NCIT:C96963 digestive system carcinoma MONDO:0018628 HIV-associated cancer MONDO:0024571 NCIT:C4046 NCIT:C4991 AIDS-related disorder MONDO:0018666 hepatoblastoma MONDO:0005564 NCIT:C3728 NCIT:C3264 embryonal neoplasm MONDO:0018689 plasma cell leukemia MONDO:0004959 NCIT:C3180 NCIT:C4665 plasma cell neoplasm MONDO:0018708 squamous cell carcinoma of the oral tongue MONDO:0000500 NCIT:C8169 NCIT:C4648 tongue squamous cell carcinoma MONDO:0018712 composite hemangioendothelioma MONDO:0021121 NCIT:C45475 NCIT:C3084 hemangioendothelioma MONDO:0018713 retiform hemangioendothelioma MONDO:0021121 NCIT:C27511 NCIT:C3084 hemangioendothelioma MONDO:0018714 primary intralymphatic angioendothelioma MONDO:0021121 NCIT:C7526 NCIT:C3084 hemangioendothelioma MONDO:0018715 congenital hemangioma MONDO:0006500 NCIT:C3841 NCIT:C3085 hemangioma MONDO:0018716 partially involuting congenital hemangioma MONDO:0018715 NCIT:C172209 NCIT:C3841 congenital hemangioma MONDO:0018734 verrucous hemangioma MONDO:0003110 NCIT:C4299 NCIT:C4905 skin hemangioma MONDO:0018738 benign metanephric tumor MONDO:0002513 NCIT:C157748 NCIT:C4778 kidney benign neoplasm MONDO:0018842 primary effusion lymphoma MONDO:0015157 NCIT:C6915 NCIT:C27697 human herpesvirus 8-related tumor MONDO:0018842 primary effusion lymphoma MONDO:0018905 NCIT:C6915 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0020574 NCIT:C7010 NCIT:C100093 central nervous system nongerminomatous germ cell tumor MONDO:0018871 acute myelomonocytic leukemia M4 MONDO:0015667 NCIT:C7463 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0018872 acute megakaryoblastic leukemia MONDO:0015667 NCIT:C3170 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0018874 acute myeloid leukemia MONDO:0004643 NCIT:C3171 NCIT:C3172 myeloid leukemia MONDO:0018874 acute myeloid leukemia MONDO:0010643 NCIT:C3171 NCIT:C9300 acute leukemia MONDO:0018881 myelodysplastic syndrome MONDO:0021058 NCIT:C3247 NCIT:C54705 neoplastic syndrome MONDO:0018907 craniopharyngioma MONDO:0002720 NCIT:C2964 NCIT:C4944 sella turcica neoplasm MONDO:0018908 non-Hodgkin lymphoma MONDO:0005062 NCIT:C3211 NCIT:C3208 lymphoma MONDO:0018936 osteoblastoma MONDO:0000631 NCIT:C3294 NCIT:C4880 bone benign neoplasm MONDO:0018944 gestational trophoblastic neoplasm MONDO:0002872 NCIT:C4699 NCIT:C3422 trophoblastic neoplasm MONDO:0018944 gestational trophoblastic neoplasm MONDO:0021148 NCIT:C4699 NCIT:C3053 female reproductive system neoplasm MONDO:0018955 recurrent respiratory papillomatosis MONDO:0021098 NCIT:C128637 NCIT:C3713 papillomatosis MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0017169 NCIT:C123329 NCIT:C6432 multiple endocrine neoplasia MONDO:0019004 kidney Wilms tumor MONDO:0002367 NCIT:C40407 NCIT:C7548 kidney cancer MONDO:0019004 kidney Wilms tumor MONDO:0006058 NCIT:C40407 NCIT:C3267 Wilms tumor MONDO:0019023 cutaneous mastocytosis MONDO:0007950 NCIT:C7137 NCIT:C84269 mastocytosis MONDO:0019025 extracutaneous mastocytoma MONDO:0003079 NCIT:C7136 NCIT:C9303 mastocytoma MONDO:0019035 pancreatoblastoma MONDO:0002116 NCIT:C4265 NCIT:C7430 malignant exocrine pancreas neoplasm MONDO:0019077 warty dyskeratoma MONDO:0002093 NCIT:C4087 NCIT:C7419 acanthoma MONDO:0019086 carcinoma of esophagus MONDO:0007576 NCIT:C3513 NCIT:C7478 esophageal cancer MONDO:0019134 central neurocytoma MONDO:0002682 NCIT:C3791 NCIT:C2937 cerebral ventricle cancer MONDO:0019134 central neurocytoma MONDO:0016729 NCIT:C3791 NCIT:C4747 mixed neuronal-glial tumor MONDO:0019328 macrocystic lymphatic malformation MONDO:0002013 NCIT:C53316 NCIT:C8965 lymphangioma MONDO:0019329 microcystic lymphatic malformation MONDO:0002013 NCIT:C45485 NCIT:C8965 lymphangioma MONDO:0019373 desmoplastic small round cell tumor MONDO:0006974 NCIT:C8300 NCIT:C3746 small cell sarcoma MONDO:0019373 desmoplastic small round cell tumor MONDO:0018078 NCIT:C8300 NCIT:C9306 soft tissue sarcoma MONDO:0019392 syringocystadenoma papilliferum MONDO:0021110 NCIT:C4172 NCIT:C7560 sweat gland adenoma MONDO:0019404 perineurioma MONDO:0002547 NCIT:C4973 NCIT:C4972 nerve sheath neoplasm MONDO:0019451 chronic neutrophilic leukemia MONDO:0001014 NCIT:C3179 NCIT:C3483 chronic leukemia MONDO:0019451 chronic neutrophilic leukemia MONDO:0020076 NCIT:C3179 NCIT:C4345 myeloproliferative neoplasm MONDO:0019452 myeloproliferative neoplasm, unclassifiable MONDO:0020076 NCIT:C27350 NCIT:C4345 myeloproliferative neoplasm MONDO:0019454 myelodysplastic syndrome with excess blasts MONDO:0018881 NCIT:C7506 NCIT:C3247 myelodysplastic syndrome MONDO:0019455 acute panmyelosis with myelofibrosis MONDO:0015667 NCIT:C4344 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0018874 NCIT:C25765 NCIT:C3171 acute myeloid leukemia MONDO:0019458 acute basophilic leukemia MONDO:0015667 NCIT:C3164 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0001023 NCIT:C4753 NCIT:C3181 prolymphocytic leukemia MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0004949 NCIT:C4753 NCIT:C27910 neoplasm of mature B-cells MONDO:0019462 splenic marginal zone lymphoma MONDO:0017604 NCIT:C4663 NCIT:C4341 marginal zone lymphoma MONDO:0019465 nodal marginal zone B-cell lymphoma MONDO:0017604 NCIT:C8863 NCIT:C4341 marginal zone lymphoma MONDO:0019468 T-cell prolymphocytic leukemia MONDO:0001023 NCIT:C4752 NCIT:C3181 prolymphocytic leukemia MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0001014 NCIT:C4664 NCIT:C3483 chronic leukemia MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO:0005402 NCIT:C4664 NCIT:C7539 lymphoid leukemia MONDO:0019470 aggressive NK-cell leukemia MONDO:0001014 NCIT:C8647 NCIT:C3483 chronic leukemia MONDO:0019478 adult nodular lymphocyte predominant Hodgkin lymphoma MONDO:0044778 NCIT:C7942 NCIT:C7258 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0019479 histiocytic sarcoma MONDO:0006247 NCIT:C27349 NCIT:C9294 histiocytic and dendritic cell neoplasm MONDO:0019496 neuroendocrine neoplasm MONDO:0002082 NCIT:C3809 NCIT:C3010 endocrine gland neoplasm MONDO:0019613 non-functioning pituitary adenoma MONDO:0006373 NCIT:C4348 NCIT:C3329 pituitary gland adenoma MONDO:0019665 monostotic fibrous dysplasia MONDO:0000845 NCIT:C53971 NCIT:C34609 fibrous dysplasia MONDO:0019781 astrocytoma (excluding glioblastoma) MONDO:0021636 NCIT:C60781 NCIT:C6958 astrocytic tumor MONDO:0019803 angioma serpiginosum MONDO:0003110 NCIT:C3926 NCIT:C4905 skin hemangioma MONDO:0019954 pancreatic neuroendocrine tumor MONDO:0000386 NCIT:C27720 NCIT:C95404 digestive system neuroendocrine tumor, grade 1/2 MONDO:0019954 pancreatic neuroendocrine tumor MONDO:0005815 NCIT:C27720 NCIT:C27031 pancreatic neuroendocrine neoplasm MONDO:0019962 thyroid lymphoma MONDO:0002108 NCIT:C5265 NCIT:C7510 thyroid cancer MONDO:0019964 thymic neuroendocrine tumor MONDO:0019496 NCIT:C6430 NCIT:C188218 neuroendocrine neoplasm MONDO:0020076 myeloproliferative neoplasm MONDO:0005170 NCIT:C4345 NCIT:C9290 myeloid neoplasm MONDO:0020076 myeloproliferative neoplasm MONDO:0021138 NCIT:C4345 NCIT:C35501 bone marrow cancer MONDO:0020204 conjunctival tumor MONDO:0006170 NCIT:C2961 NCIT:C27605 conjunctival disorder MONDO:0020204 conjunctival tumor MONDO:0021220 NCIT:C2961 NCIT:C3030 eye neoplasm MONDO:0020311 chronic myelomonocytic leukemia MONDO:0006311 NCIT:C3178 NCIT:C27262 myelodysplastic/myeloproliferative neoplasm MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0015667 NCIT:C3250 NCIT:C27753 acute myeloid leukemia by FAB classification MONDO:0020321 acute undifferentiated leukemia MONDO:0019460 NCIT:C9298 NCIT:C7464 acute leukemia of ambiguous lineage MONDO:0020322 acute biphenotypic leukemia MONDO:0020743 NCIT:C4673 NCIT:C82179 mixed phenotype acute leukemia MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0000951 NCIT:C9280 NCIT:C6451 thymus lymphoma MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0018905 NCIT:C9280 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0020324 intravascular large B-cell lymphoma MONDO:0018905 NCIT:C4342 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0020325 anaplastic large cell lymphoma MONDO:0000430 NCIT:C3720 NCIT:C3468 mature T-cell and NK-cell non-Hodgkin lymphoma MONDO:0020326 lymphomatoid papulosis MONDO:0018897 NCIT:C3721 NCIT:C7195 primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO:0020331 indolent systemic mastocytosis MONDO:0016586 NCIT:C9286 NCIT:C9235 systemic mastocytosis MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0004967 NCIT:C8644 NCIT:C3167 acute lymphoblastic leukemia MONDO:0020516 thymic neuroendocrine carcinoma MONDO:0006451 NCIT:C171031 NCIT:C7569 thymic carcinoma MONDO:0020540 ovarian gynandroblastoma MONDO:0021657 NCIT:C3072 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0018172 NCIT:C8403 NCIT:C8053 malignant sex cord stromal tumor of ovary MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0023283 NCIT:C8403 NCIT:C6261 ovarian granulosa cell tumor MONDO:0020549 invasive hydatidiform mole MONDO:0006248 NCIT:C6985 NCIT:C3110 hydatidiform mole MONDO:0020550 gestational choriocarcinoma MONDO:0005207 NCIT:C4646 NCIT:C2948 choriocarcinoma MONDO:0020550 gestational choriocarcinoma MONDO:0018944 NCIT:C4646 NCIT:C4699 gestational trophoblastic neoplasm MONDO:0020552 placental site trophoblastic tumor MONDO:0018944 NCIT:C3757 NCIT:C4699 gestational trophoblastic neoplasm MONDO:0020555 pleuropulmonary blastoma type 1 MONDO:0011014 NCIT:C45626 NCIT:C5669 pleuropulmonary blastoma MONDO:0020556 pleuropulmonary blastoma type 2 MONDO:0011014 NCIT:C45627 NCIT:C5669 pleuropulmonary blastoma MONDO:0020557 pleuropulmonary blastoma type 3 MONDO:0011014 NCIT:C45628 NCIT:C5669 pleuropulmonary blastoma MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0002728 NCIT:C6906 NCIT:C3808 rhabdoid tumor MONDO:0020562 pleomorphic liposarcoma MONDO:0005060 NCIT:C3705 NCIT:C3194 liposarcoma MONDO:0020563 dedifferentiated liposarcoma MONDO:0005060 NCIT:C3704 NCIT:C3194 liposarcoma MONDO:0020574 central nervous system nongerminomatous germ cell tumor MONDO:0003000 NCIT:C100093 NCIT:C5461 central nervous system germ cell tumor MONDO:0020580 germinomatous germ cell tumor MONDO:0005040 NCIT:C121618 NCIT:C3708 germ cell tumor MONDO:0020581 benign PEComa MONDO:0006359 NCIT:C121791 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0020582 benign uterine ligament neoplasm MONDO:0021629 NCIT:C126493 NCIT:C40133 uterine ligament neoplasm MONDO:0020588 lung PEComa MONDO:0006359 NCIT:C142783 NCIT:C38150 neoplasm with perivascular epithelioid cell differentiation MONDO:0020589 cardiac germ cell tumor MONDO:0018201 NCIT:C147005 NCIT:C3918 extragonadal germ cell tumor MONDO:0020589 cardiac germ cell tumor MONDO:0021209 NCIT:C147005 NCIT:C3081 heart neoplasm MONDO:0020596 mucin-producing carcinoma MONDO:0004993 NCIT:C27825 NCIT:C2916 carcinoma MONDO:0020633 anaplastic cancer MONDO:0004992 NCIT:C36025 NCIT:C9305 cancer MONDO:0020634 grade III meningioma MONDO:0016642 NCIT:C38938 NCIT:C3230 meningioma MONDO:0020635 anaplastic meningioma MONDO:0020633 NCIT:C4051 NCIT:C36025 anaplastic cancer MONDO:0020635 anaplastic meningioma MONDO:0020634 NCIT:C4051 NCIT:C38938 grade III meningioma MONDO:0020641 respiratory tract neoplasm MONDO:0005087 NCIT:C3355 NCIT:C26871 respiratory system disorder MONDO:0020644 lung non-Hodgkin lymphoma MONDO:0003987 NCIT:C5684 NCIT:C4794 lung lymphoma MONDO:0020644 lung non-Hodgkin lymphoma MONDO:0018908 NCIT:C5684 NCIT:C3211 non-Hodgkin lymphoma MONDO:0020649 warty carcinoma of the penis MONDO:0020656 NCIT:C6981 NCIT:C27682 human papillomavirus-related penile squamous cell carcinoma MONDO:0020650 germ cell tumor of the vulva MONDO:0005040 NCIT:C128294 NCIT:C3708 germ cell tumor MONDO:0020650 germ cell tumor of the vulva MONDO:0021049 NCIT:C128294 NCIT:C3443 vulvar neoplasm MONDO:0020653 vaginal adenocarcinoma MONDO:0001704 NCIT:C7981 NCIT:C40250 vaginal glandular neoplasm MONDO:0020653 vaginal adenocarcinoma MONDO:0004970 NCIT:C7981 NCIT:C2852 adenocarcinoma MONDO:0020653 vaginal adenocarcinoma MONDO:0015867 NCIT:C7981 NCIT:C3917 vaginal carcinoma MONDO:0020654 renal pelvis/ureter urothelial carcinoma MONDO:0040679 NCIT:C7716 NCIT:C4030 urothelial carcinoma MONDO:0020656 human papillomavirus-related penile squamous cell carcinoma MONDO:0018352 NCIT:C27682 NCIT:C7729 squamous cell carcinoma of penis MONDO:0020656 human papillomavirus-related penile squamous cell carcinoma MONDO:0020657 NCIT:C27682 NCIT:C27683 human papillomavirus-related squamous cell carcinoma MONDO:0020657 human papillomavirus-related squamous cell carcinoma MONDO:0005096 NCIT:C27683 NCIT:C2929 squamous cell carcinoma MONDO:0020660 osteoblastic osteosarcoma MONDO:0002631 NCIT:C53953 NCIT:C35870 conventional osteosarcoma MONDO:0020662 borderline ovarian serous tumor MONDO:0016093 NCIT:C5226 NCIT:C4783 borderline epithelial tumor of ovary MONDO:0020662 borderline ovarian serous tumor MONDO:0037255 NCIT:C5226 NCIT:C8431 ovarian serous tumor MONDO:0020663 malignant spindle cell neoplasm MONDO:0020664 NCIT:C27091 NCIT:C27263 spindle cell neoplasm MONDO:0020669 paranasal sinus cancer MONDO:0005289 NCIT:C7487 NCIT:C7488 paranasal sinus neoplasm MONDO:0020690 adult glioblastoma MONDO:0004320 NCIT:C9094 NCIT:C8289 adult infiltrating astrocytic neoplasm MONDO:0020690 adult glioblastoma MONDO:0018177 NCIT:C9094 NCIT:C3058 glioblastoma MONDO:0020694 salivary gland epithelial myoepithelial carcinoma MONDO:0000521 NCIT:C35701 NCIT:C9272 salivary gland carcinoma MONDO:0020694 salivary gland epithelial myoepithelial carcinoma MONDO:0003389 NCIT:C35701 NCIT:C4199 epithelial-myoepithelial carcinoma MONDO:0020697 lung epithelial-myoepithelial carcinoma MONDO:0003389 NCIT:C45545 NCIT:C4199 epithelial-myoepithelial carcinoma MONDO:0020697 lung epithelial-myoepithelial carcinoma MONDO:0005138 NCIT:C45545 NCIT:C4878 lung carcinoma MONDO:0020743 mixed phenotype acute leukemia MONDO:0019460 NCIT:C82179 NCIT:C7464 acute leukemia of ambiguous lineage MONDO:0020760 skin squamous cell carcinoma in situ MONDO:0002529 NCIT:C2906 NCIT:C4819 skin squamous cell carcinoma MONDO:0020760 skin squamous cell carcinoma in situ MONDO:0004641 NCIT:C2906 NCIT:C3640 skin carcinoma in situ MONDO:0020760 skin squamous cell carcinoma in situ MONDO:0004693 NCIT:C2906 NCIT:C27093 squamous carcinoma in situ MONDO:0020761 Bowen disease of the skin MONDO:0020760 NCIT:C62571 NCIT:C2906 skin squamous cell carcinoma in situ MONDO:0020794 colorectal medullary carcinoma MONDO:0005008 NCIT:C43590 NCIT:C5105 colorectal adenocarcinoma MONDO:0020799 basal cell neoplasm MONDO:0005626 NCIT:C3784 NCIT:C3709 epithelial neoplasm MONDO:0020801 rectal medullary carcinoma MONDO:0002169 NCIT:C60640 NCIT:C9383 rectum adenocarcinoma MONDO:0020801 rectal medullary carcinoma MONDO:0020794 NCIT:C60640 NCIT:C43590 colorectal medullary carcinoma MONDO:0020804 basal cell carcinoma MONDO:0004993 NCIT:C156767 NCIT:C2916 carcinoma MONDO:0020804 basal cell carcinoma MONDO:0020799 NCIT:C156767 NCIT:C3784 basal cell neoplasm MONDO:0020807 ovarian sertoli-stromal cell tumor MONDO:0021657 NCIT:C39966 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0020808 testicular sertoli cell tumor MONDO:0002696 NCIT:C4672 NCIT:C39976 Sertoli cell tumor MONDO:0020808 testicular sertoli cell tumor MONDO:0003125 NCIT:C4672 NCIT:C6358 testicular sex cord-stromal neoplasm MONDO:0020809 benign sertoli cell tumor MONDO:0002696 NCIT:C67012 NCIT:C39976 Sertoli cell tumor MONDO:0020813 benign testicular sertoli cell tumor MONDO:0020808 NCIT:C6522 NCIT:C4672 testicular sertoli cell tumor MONDO:0020813 benign testicular sertoli cell tumor MONDO:0020809 NCIT:C6522 NCIT:C67012 benign sertoli cell tumor MONDO:0020813 benign testicular sertoli cell tumor MONDO:0021447 NCIT:C6522 NCIT:C3612 benign neoplasm of testis MONDO:0021009 salivary gland mucoepidermoid carcinoma MONDO:0000521 NCIT:C5908 NCIT:C9272 salivary gland carcinoma MONDO:0021010 skin lymphangiosarcoma MONDO:0006282 NCIT:C4490 NCIT:C3205 lymphangiosarcoma MONDO:0021010 skin lymphangiosarcoma MONDO:0006414 NCIT:C4490 NCIT:C5585 skin sarcoma MONDO:0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0005564 NCIT:C27291 NCIT:C3264 embryonal neoplasm MONDO:0021039 extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021038 NCIT:C27293 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021040 pancreatic neoplasm MONDO:0002356 NCIT:C3305 NCIT:C26842 pancreas disorder MONDO:0021040 pancreatic neoplasm MONDO:0021223 NCIT:C3305 NCIT:C3052 digestive system neoplasm MONDO:0021041 pleural solitary fibrous tumor MONDO:0016238 NCIT:C4457 NCIT:C7634 solitary fibrous tumor MONDO:0021041 pleural solitary fibrous tumor MONDO:0021065 NCIT:C4457 NCIT:C3332 pleural neoplasm MONDO:0021042 glioma MONDO:0021193 NCIT:C3059 NCIT:C3787 neuroepithelial neoplasm MONDO:0021045 fibroepithelial neoplasm MONDO:0021043 NCIT:C3743 NCIT:C6930 mixed neoplasm MONDO:0021046 breast fibroepithelial neoplasm MONDO:0021045 NCIT:C40405 NCIT:C3743 fibroepithelial neoplasm MONDO:0021046 breast fibroepithelial neoplasm MONDO:0021100 NCIT:C40405 NCIT:C2910 breast neoplasm MONDO:0021047 breast phyllodes tumor MONDO:0005078 NCIT:C7575 NCIT:C2977 phyllodes tumor MONDO:0021047 breast phyllodes tumor MONDO:0021046 NCIT:C7575 NCIT:C40405 breast fibroepithelial neoplasm MONDO:0021048 benign mastocytoma MONDO:0003079 NCIT:C3217 NCIT:C9303 mastocytoma MONDO:0021048 benign mastocytoma MONDO:0005165 NCIT:C3217 NCIT:C3677 benign neoplasm MONDO:0021049 vulvar neoplasm MONDO:0002187 NCIT:C3443 NCIT:C27631 vulvar disease MONDO:0021049 vulvar neoplasm MONDO:0021148 NCIT:C3443 NCIT:C3053 female reproductive system neoplasm MONDO:0021050 vaginal neoplasm MONDO:0001433 NCIT:C3437 NCIT:C26910 vaginal disorder MONDO:0021050 vaginal neoplasm MONDO:0021148 NCIT:C3437 NCIT:C3053 female reproductive system neoplasm MONDO:0021053 carotid body paraganglioma MONDO:0006239 NCIT:C2932 NCIT:C5327 head and neck paraganglioma MONDO:0021053 carotid body paraganglioma MONDO:0021052 NCIT:C2932 NCIT:C4217 parasympathetic paraganglioma MONDO:0021054 bone sarcoma MONDO:0002129 NCIT:C9312 NCIT:C4016 bone cancer MONDO:0021054 bone sarcoma MONDO:0005089 NCIT:C9312 NCIT:C9118 sarcoma MONDO:0021063 malignant colon neoplasm MONDO:0005401 NCIT:C9242 NCIT:C2953 colonic neoplasm MONDO:0021063 malignant colon neoplasm MONDO:0005575 NCIT:C9242 NCIT:C4978 colorectal cancer MONDO:0021064 jugulotympanic paraganglioma MONDO:0006239 NCIT:C3061 NCIT:C5327 head and neck paraganglioma MONDO:0021064 jugulotympanic paraganglioma MONDO:0021052 NCIT:C3061 NCIT:C4217 parasympathetic paraganglioma MONDO:0021065 pleural neoplasm MONDO:0002037 NCIT:C3332 NCIT:C26859 pleural disorder MONDO:0021066 urinary system neoplasm MONDO:0002118 NCIT:C3431 NCIT:C3430 urinary system disorder MONDO:0021067 mediastinal germ cell tumor MONDO:0018201 NCIT:C6437 NCIT:C3918 extragonadal germ cell tumor MONDO:0021067 mediastinal germ cell tumor MONDO:0021386 NCIT:C6437 NCIT:C3221 neoplasm of mediastinum MONDO:0021068 ovarian neoplasm MONDO:0005558 NCIT:C4984 NCIT:C26841 ovarian disorder MONDO:0021068 ovarian neoplasm MONDO:0021148 NCIT:C4984 NCIT:C3053 female reproductive system neoplasm MONDO:0021069 malignant endocrine neoplasm MONDO:0002082 NCIT:C3575 NCIT:C3010 endocrine gland neoplasm MONDO:0021069 malignant endocrine neoplasm MONDO:0004992 NCIT:C3575 NCIT:C9305 cancer MONDO:0021070 sublingual gland carcinoma MONDO:0004667 NCIT:C8397 NCIT:C3527 sublingual gland cancer MONDO:0021070 sublingual gland carcinoma MONDO:0006284 NCIT:C8397 NCIT:C5907 major salivary gland carcinoma MONDO:0021071 laryngeal neoplasm MONDO:0004382 NCIT:C3156 NCIT:C26810 laryngeal disorder MONDO:0021072 sympathetic paraganglioma MONDO:0000448 NCIT:C4216 NCIT:C3308 paraganglioma MONDO:0021075 neoplastic polyp MONDO:0005079 NCIT:C7068 NCIT:C3340 polyp MONDO:0021076 pancreatic exocrine neoplasm MONDO:0021040 NCIT:C4445 NCIT:C3305 pancreatic neoplasm MONDO:0021078 glandular papilloma MONDO:0002363 NCIT:C6880 NCIT:C7440 papilloma MONDO:0021078 glandular papilloma MONDO:0024276 NCIT:C6880 NCIT:C7132 glandular cell neoplasm MONDO:0021080 blood vessel neoplasm MONDO:0024296 NCIT:C7387 NCIT:C7388 vascular neoplasm MONDO:0021085 gastric neoplasm MONDO:0004298 NCIT:C3387 NCIT:C26886 stomach disorder MONDO:0021085 gastric neoplasm MONDO:0021223 NCIT:C3387 NCIT:C3052 digestive system neoplasm MONDO:0021086 gingival neoplasm MONDO:0002021 NCIT:C3057 NCIT:C173795 gingival disorder MONDO:0021089 peripheral nervous system cancer MONDO:0001406 NCIT:C4961 NCIT:C3321 peripheral nervous system neoplasm MONDO:0021089 peripheral nervous system cancer MONDO:0005872 NCIT:C4961 NCIT:C4788 nervous system cancer MONDO:0021090 lipid-rich breast carcinoma MONDO:0003570 NCIT:C40365 NCIT:C4152 lipid-rich carcinoma MONDO:0021091 papillary cystadenoma MONDO:0002369 NCIT:C2974 NCIT:C2972 cystadenoma MONDO:0021091 papillary cystadenoma MONDO:0006349 NCIT:C2974 NCIT:C4179 papillary cystic neoplasm MONDO:0021092 fallopian tube neoplasm MONDO:0002156 NCIT:C3032 NCIT:C26771 fallopian tube disorder MONDO:0021092 fallopian tube neoplasm MONDO:0021148 NCIT:C3032 NCIT:C3053 female reproductive system neoplasm MONDO:0021096 papillary epithelial neoplasm MONDO:0005626 NCIT:C8429 NCIT:C3709 epithelial neoplasm MONDO:0021097 intraductal breast papilloma MONDO:0000620 NCIT:C3863 NCIT:C4505 breast benign neoplasm MONDO:0021097 intraductal breast papilloma MONDO:0002060 NCIT:C3863 NCIT:C3785 intraductal papilloma MONDO:0021097 intraductal breast papilloma MONDO:0002061 NCIT:C3863 NCIT:C36090 intraductal papillary breast neoplasm MONDO:0021098 papillomatosis MONDO:0021096 NCIT:C3713 NCIT:C8429 papillary epithelial neoplasm MONDO:0021099 intraductal papillomatosis MONDO:0021098 NCIT:C7363 NCIT:C3713 papillomatosis MONDO:0021100 breast neoplasm MONDO:0002657 NCIT:C2910 NCIT:C26709 breast disorder MONDO:0021101 appendix L-cell glucagon-like peptide-producing neuroendocrine tumor MONDO:0015066 NCIT:C27445 NCIT:C96422 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0021102 prostate phyllodes tumor MONDO:0005078 NCIT:C7574 NCIT:C2977 phyllodes tumor MONDO:0021102 prostate phyllodes tumor MONDO:0021259 NCIT:C7574 NCIT:C3343 prostate neoplasm MONDO:0021109 inverted urothelial papilloma MONDO:0003064 NCIT:C6192 NCIT:C4118 inverted transitional cell papilloma MONDO:0021109 inverted urothelial papilloma MONDO:0004041 NCIT:C6192 NCIT:C3842 urothelial papilloma MONDO:0021111 ureter neoplasm MONDO:0001926 NCIT:C3427 NCIT:C27148 ureteral disorder MONDO:0021111 ureter neoplasm MONDO:0021066 NCIT:C3427 NCIT:C192666 urinary system neoplasm MONDO:0021112 scrotum cancer MONDO:0003319 NCIT:C3560 NCIT:C4380 scrotum neoplasm MONDO:0021114 Bartholin gland neoplasm MONDO:0021049 NCIT:C6434 NCIT:C3443 vulvar neoplasm MONDO:0021117 lung neoplasm MONDO:0005275 NCIT:C3200 NCIT:C3198 lung disorder MONDO:0021117 lung neoplasm MONDO:0020641 NCIT:C3200 NCIT:C3355 respiratory tract neoplasm MONDO:0021117 lung neoplasm MONDO:0021350 NCIT:C3200 NCIT:C3406 neoplasm of thorax MONDO:0021118 intestinal neoplasm MONDO:0005020 NCIT:C3141 NCIT:C26801 intestinal disorder MONDO:0021118 intestinal neoplasm MONDO:0021223 NCIT:C3141 NCIT:C3052 digestive system neoplasm MONDO:0021119 non-functioning endocrine neoplasm MONDO:0002082 NCIT:C94760 NCIT:C3010 endocrine gland neoplasm MONDO:0021120 functioning endocrine neoplasm MONDO:0002082 NCIT:C94759 NCIT:C3010 endocrine gland neoplasm MONDO:0021121 hemangioendothelioma MONDO:0021080 NCIT:C3084 NCIT:C7387 blood vessel neoplasm MONDO:0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone MONDO:0021038 NCIT:C35871 NCIT:C27291 Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0021138 bone marrow cancer MONDO:0005374 NCIT:C35501 NCIT:C35370 bone marrow neoplasm MONDO:0021144 ovarian clear cell tumor MONDO:0002229 NCIT:C40076 NCIT:C4381 ovarian epithelial tumor MONDO:0021148 female reproductive system neoplasm MONDO:0002263 NCIT:C3053 NCIT:C27020 female reproductive system disorder MONDO:0021148 female reproductive system neoplasm MONDO:0006054 NCIT:C3053 NCIT:C3674 reproductive system neoplasm MONDO:0021163 kidney neoplasm MONDO:0005240 NCIT:C3150 NCIT:C3149 kidney disorder MONDO:0021165 Paget disease MONDO:0004970 NCIT:C7073 NCIT:C2852 adenocarcinoma MONDO:0021168 hibernoma MONDO:0005106 NCIT:C3702 NCIT:C3192 lipoma MONDO:0021169 epithelioid hemangioma MONDO:0006500 NCIT:C4298 NCIT:C3085 hemangioma MONDO:0021192 odontogenic neoplasm MONDO:0006999 NCIT:C3286 NCIT:C35077 tooth disorder MONDO:0021209 heart neoplasm MONDO:0005267 NCIT:C3081 NCIT:C3079 heart disorder MONDO:0021209 heart neoplasm MONDO:0021350 NCIT:C3081 NCIT:C3406 neoplasm of thorax MONDO:0021209 heart neoplasm MONDO:0024757 NCIT:C3081 NCIT:C4784 cardiovascular neoplasm MONDO:0021210 trachea neoplasm MONDO:0002567 NCIT:C3419 NCIT:C35079 tracheal disorder MONDO:0021210 trachea neoplasm MONDO:0020641 NCIT:C3419 NCIT:C3355 respiratory tract neoplasm MONDO:0021211 brain neoplasm MONDO:0005560 NCIT:C2907 NCIT:C96413 brain disorder MONDO:0021218 placenta neoplasm MONDO:0005917 NCIT:C4858 NCIT:C26857 placenta disorder MONDO:0021220 eye neoplasm MONDO:0005328 NCIT:C3030 NCIT:C26767 eye disorder MONDO:0021221 vestibulocochlear nerve neoplasm MONDO:0001563 NCIT:C5120 NCIT:C27207 vestibulocochlear nerve disorder MONDO:0021221 vestibulocochlear nerve neoplasm MONDO:0002633 NCIT:C5120 NCIT:C2963 cranial nerve neoplasm MONDO:0021224 iris neoplasm MONDO:0002289 NCIT:C3142 NCIT:C34737 iris disorder MONDO:0021224 iris neoplasm MONDO:0021225 NCIT:C3142 NCIT:C3436 uvea neoplasm MONDO:0021225 uvea neoplasm MONDO:0002661 NCIT:C3436 NCIT:C26908 uveal disorder MONDO:0021225 uvea neoplasm MONDO:0021220 NCIT:C3436 NCIT:C3030 eye neoplasm MONDO:0021227 adrenal gland neoplasm MONDO:0005495 NCIT:C2859 NCIT:C26690 adrenal gland disorder MONDO:0021229 ciliary body neoplasm MONDO:0002970 NCIT:C4364 NCIT:C35775 ciliary body disorder MONDO:0021230 uterine cervix neoplasm MONDO:0002256 NCIT:C2940 NCIT:C40241 cervix disorder MONDO:0021230 uterine cervix neoplasm MONDO:0021353 NCIT:C2940 NCIT:C3435 tumor of uterus MONDO:0021231 retina neoplasm MONDO:0005283 NCIT:C4800 NCIT:C26875 retinal disorder MONDO:0021231 retina neoplasm MONDO:0021220 NCIT:C4800 NCIT:C3030 eye neoplasm MONDO:0021233 ear neoplasm MONDO:0005586 NCIT:C3000 NCIT:C3077 head and neck neoplasm MONDO:0021233 ear neoplasm MONDO:0021205 NCIT:C3000 NCIT:C26757 disorder of ear MONDO:0021234 spinal cord neoplasm MONDO:0002545 NCIT:C3381 NCIT:C97110 spinal cord disorder MONDO:0021235 external ear neoplasm MONDO:0002776 NCIT:C4652 NCIT:C26972 external ear disorder MONDO:0021235 external ear neoplasm MONDO:0021233 NCIT:C4652 NCIT:C3000 ear neoplasm MONDO:0021237 adrenal medulla neoplasm MONDO:0021227 NCIT:C4856 NCIT:C2859 adrenal gland neoplasm MONDO:0021238 cornea neoplasm MONDO:0000942 NCIT:C4361 NCIT:C26731 corneal disorder MONDO:0021238 cornea neoplasm MONDO:0021220 NCIT:C4361 NCIT:C3030 eye neoplasm MONDO:0021239 urethra neoplasm MONDO:0004184 NCIT:C3428 NCIT:C26903 urethral disorder MONDO:0021239 urethra neoplasm MONDO:0021066 NCIT:C3428 NCIT:C192666 urinary system neoplasm MONDO:0021240 tongue neoplasm MONDO:0001165 NCIT:C3416 NCIT:C173793 tongue disorder MONDO:0021242 sublingual gland neoplasm MONDO:0021368 NCIT:C3392 NCIT:C4407 neoplasm of major salivary gland MONDO:0021243 parotid gland neoplasm MONDO:0021368 NCIT:C3314 NCIT:C4407 neoplasm of major salivary gland MONDO:0021244 submandibular gland neoplasm MONDO:0021368 NCIT:C3393 NCIT:C4407 neoplasm of major salivary gland MONDO:0021248 nervous system neoplasm MONDO:0005071 NCIT:C3268 NCIT:C26835 nervous system disorder MONDO:0021249 lip neoplasm MONDO:0004748 NCIT:C3191 NCIT:C26818 lip disorder MONDO:0021251 endometrium neoplasm MONDO:0000931 NCIT:C3012 NCIT:C3504 endometrial disorder MONDO:0021253 gallbladder neoplasm MONDO:0002514 NCIT:C3048 NCIT:C8614 hepatobiliary neoplasm MONDO:0021253 gallbladder neoplasm MONDO:0005281 NCIT:C3048 NCIT:C34631 gallbladder disorder MONDO:0021254 corpus uteri neoplasm MONDO:0021353 NCIT:C6300 NCIT:C3435 tumor of uterus MONDO:0021258 choroid neoplasm MONDO:0001898 NCIT:C2949 NCIT:C34468 optic choroid disorder MONDO:0021258 choroid neoplasm MONDO:0021225 NCIT:C2949 NCIT:C3436 uvea neoplasm MONDO:0021259 prostate neoplasm MONDO:0003105 NCIT:C3343 NCIT:C26865 prostate disorder MONDO:0021273 leiomyoma of ciliary body MONDO:0001572 NCIT:C4560 NCIT:C3157 leiomyoma MONDO:0021273 leiomyoma of ciliary body MONDO:0021486 NCIT:C4560 NCIT:C4779 benign neoplasm of ciliary body MONDO:0021275 papilloma of eyelid MONDO:0021605 NCIT:C4061 NCIT:C4354 benign eyelid neoplasm MONDO:0021276 papilloma of buccal mucosa MONDO:0021524 NCIT:C5819 NCIT:C4406 benign neoplasm of buccal mucosa MONDO:0021279 mucoepidermoid carcinoma of submandibular gland MONDO:0006286 NCIT:C5939 NCIT:C5906 major salivary gland mucoepidermoid carcinoma MONDO:0021280 mucoepidermoid carcinoma of parotid gland MONDO:0006286 NCIT:C5938 NCIT:C5906 major salivary gland mucoepidermoid carcinoma MONDO:0021280 mucoepidermoid carcinoma of parotid gland MONDO:0021331 NCIT:C5938 NCIT:C6791 carcinoma of parotid gland MONDO:0021283 malignant teratoma of mediastinum MONDO:0003518 NCIT:C4668 NCIT:C6438 mediastinum teratoma MONDO:0021285 carcinoma in situ of urethra MONDO:0004647 NCIT:C4531 NCIT:C2917 in situ carcinoma MONDO:0021288 carcinoma in situ of hypopharynx MONDO:0000372 NCIT:C9101 NCIT:C4942 pharynx carcinoma in situ MONDO:0021289 carcinoma in situ of cecum MONDO:0004663 NCIT:C4594 NCIT:C3638 colon carcinoma in situ MONDO:0021289 carcinoma in situ of cecum MONDO:0006029 NCIT:C4594 NCIT:C3491 cecum carcinoma MONDO:0021291 carcinoma in situ of fundus of stomach MONDO:0003970 NCIT:C4429 NCIT:C8398 gastric fundus carcinoma MONDO:0021291 carcinoma in situ of fundus of stomach MONDO:0004716 NCIT:C4429 NCIT:C7788 stomach carcinoma in situ MONDO:0021292 carcinoma in situ of gastric body MONDO:0003972 NCIT:C4430 NCIT:C8399 gastric body carcinoma MONDO:0021292 carcinoma in situ of gastric body MONDO:0004716 NCIT:C4430 NCIT:C7788 stomach carcinoma in situ MONDO:0021294 carcinoma in situ of gastric cardia MONDO:0003834 NCIT:C4428 NCIT:C6794 gastric cardia carcinoma MONDO:0021294 carcinoma in situ of gastric cardia MONDO:0004716 NCIT:C4428 NCIT:C7788 stomach carcinoma in situ MONDO:0021297 carcinoma in situ of nasopharynx MONDO:0000372 NCIT:C9099 NCIT:C4942 pharynx carcinoma in situ MONDO:0021298 carcinoma in situ of oropharynx MONDO:0000372 NCIT:C4590 NCIT:C4942 pharynx carcinoma in situ MONDO:0021300 adenoid cystic carcinoma of oropharynx MONDO:0044926 NCIT:C6241 NCIT:C9105 oropharyngeal carcinoma MONDO:0021303 adenoma of small intestine MONDO:0006180 NCIT:C5340 NCIT:C36207 digestive system adenoma MONDO:0021309 malignant neoplasm of endocervix MONDO:0002974 NCIT:C3553 NCIT:C9311 cervical cancer MONDO:0021310 malignant tumor of neck MONDO:0005627 NCIT:C4940 NCIT:C4013 head and neck cancer MONDO:0021310 malignant tumor of neck MONDO:0021351 NCIT:C4940 NCIT:C3260 neoplasm of neck MONDO:0021311 malignant tumor of parathyroid gland MONDO:0021360 NCIT:C9322 NCIT:C3313 tumor of parathyroid gland MONDO:0021312 malignant tumor of adrenal cortex MONDO:0002817 NCIT:C9327 NCIT:C9338 adrenal gland cancer MONDO:0021312 malignant tumor of adrenal cortex MONDO:0036591 NCIT:C9327 NCIT:C2858 adrenal cortex neoplasm MONDO:0021313 eyelid cancer MONDO:0002236 NCIT:C6786 NCIT:C4767 ocular cancer MONDO:0021315 malignant tumor of nasopharynx MONDO:0005375 NCIT:C9321 NCIT:C3257 nasopharyngeal neoplasm MONDO:0021315 malignant tumor of nasopharynx MONDO:0005517 NCIT:C9321 NCIT:C7545 pharynx cancer MONDO:0021316 malignant tumor of minor salivary gland MONDO:0004669 NCIT:C4410 NCIT:C3811 salivary gland cancer MONDO:0021316 malignant tumor of minor salivary gland MONDO:0021370 NCIT:C4410 NCIT:C4409 neoplasm of minor salivary gland MONDO:0021317 cancer of cerebellum MONDO:0002913 NCIT:C3569 NCIT:C2935 cerebellar neoplasm MONDO:0021320 malignant tumor of floor of mouth MONDO:0021383 NCIT:C9318 NCIT:C4401 neoplasm of floor of mouth MONDO:0021321 malignant tumor of extrahepatic bile duct MONDO:0021385 NCIT:C7483 NCIT:C4441 extrahepatic bile duct neoplasm MONDO:0021322 malignant tumor of meninges MONDO:0002714 NCIT:C4628 NCIT:C4627 central nervous system cancer MONDO:0021322 malignant tumor of meninges MONDO:0016743 NCIT:C4628 NCIT:C3229 tumor of meninges MONDO:0021323 malignant neoplasm of chest wall MONDO:0003274 NCIT:C4580 NCIT:C3576 thoracic cancer MONDO:0021323 malignant neoplasm of chest wall MONDO:0021388 NCIT:C4580 NCIT:C4929 neoplasm of chest wall MONDO:0021327 carcinoma of urethra MONDO:0004192 NCIT:C9106 NCIT:C7507 urethra cancer MONDO:0021329 carcinoma of soft palate MONDO:0004611 NCIT:C8395 NCIT:C3529 soft palate cancer MONDO:0021329 carcinoma of soft palate MONDO:0044926 NCIT:C8395 NCIT:C9105 oropharyngeal carcinoma MONDO:0021331 carcinoma of parotid gland MONDO:0004700 NCIT:C6791 NCIT:C3525 parotid gland cancer MONDO:0021331 carcinoma of parotid gland MONDO:0006284 NCIT:C6791 NCIT:C5907 major salivary gland carcinoma MONDO:0021333 carcinoma of lip MONDO:0006834 NCIT:C3490 NCIT:C7485 lip cancer MONDO:0021335 carcinoma of duodenum MONDO:0000920 NCIT:C4803 NCIT:C9328 duodenum cancer MONDO:0021335 carcinoma of duodenum MONDO:0005522 NCIT:C4803 NCIT:C7724 small intestine carcinoma MONDO:0021337 tonsil carcinoma MONDO:0006998 NCIT:C4825 NCIT:C7404 tonsil cancer MONDO:0021337 tonsil carcinoma MONDO:0044926 NCIT:C4825 NCIT:C9105 oropharyngeal carcinoma MONDO:0021339 carcinoma of hard palate MONDO:0004719 NCIT:C8394 NCIT:C3528 hard palate cancer MONDO:0021343 carcinoma of floor of mouth MONDO:0021320 NCIT:C9319 NCIT:C9318 malignant tumor of floor of mouth MONDO:0021348 neoplasm of testis MONDO:0002329 NCIT:C3404 NCIT:C26890 testicular disorder MONDO:0021348 neoplasm of testis MONDO:0024582 NCIT:C3404 NCIT:C3054 male reproductive system neoplasm MONDO:0021351 neoplasm of neck MONDO:0005586 NCIT:C3260 NCIT:C3077 head and neck neoplasm MONDO:0021353 tumor of uterus MONDO:0002654 NCIT:C3435 NCIT:C26907 uterine disorder MONDO:0021353 tumor of uterus MONDO:0021148 NCIT:C3435 NCIT:C3053 female reproductive system neoplasm MONDO:0021354 tumor of adipose tissue MONDO:0002616 NCIT:C4248 NCIT:C7059 mesenchymal cell neoplasm MONDO:0021355 neoplasm of esophagus MONDO:0003749 NCIT:C3028 NCIT:C3027 esophageal disorder MONDO:0021355 neoplasm of esophagus MONDO:0021223 NCIT:C3028 NCIT:C3052 digestive system neoplasm MONDO:0021357 tumor of salivary gland MONDO:0001142 NCIT:C3361 NCIT:C26879 salivary gland disorder MONDO:0021357 tumor of salivary gland MONDO:0005586 NCIT:C3361 NCIT:C3077 head and neck neoplasm MONDO:0021358 neoplasm of hypopharynx MONDO:0021246 NCIT:C3127 NCIT:C3325 pharynx neoplasm MONDO:0021360 tumor of parathyroid gland MONDO:0001223 NCIT:C3313 NCIT:C26844 parathyroid gland disorder MONDO:0021364 neoplasm of oropharynx MONDO:0021246 NCIT:C3291 NCIT:C3325 pharynx neoplasm MONDO:0021366 neoplasm of middle ear MONDO:0003276 NCIT:C4412 NCIT:C27065 middle ear disorder MONDO:0021366 neoplasm of middle ear MONDO:0021233 NCIT:C4412 NCIT:C3000 ear neoplasm MONDO:0021367 leukemia, myeloid, accelerated-phase MONDO:0011996 NCIT:C3173 NCIT:C3174 chronic myelogenous leukemia, BCR-ABL1 positive MONDO:0021368 neoplasm of major salivary gland MONDO:0021357 NCIT:C4407 NCIT:C3361 tumor of salivary gland MONDO:0021370 neoplasm of minor salivary gland MONDO:0021357 NCIT:C4409 NCIT:C3361 tumor of salivary gland MONDO:0021372 neoplasm of temporal lobe MONDO:0021374 NCIT:C5567 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0021373 neoplasm of parietal lobe MONDO:0021374 NCIT:C5573 NCIT:C4874 neoplasm of cerebral hemisphere MONDO:0021375 tumor of duodenum MONDO:0004251 NCIT:C2995 NCIT:C4432 small intestine neoplasm MONDO:0021378 neoplasm of endocardium MONDO:0021209 NCIT:C5346 NCIT:C3081 heart neoplasm MONDO:0021379 neoplasm of epicardium MONDO:0021209 NCIT:C5347 NCIT:C3081 heart neoplasm MONDO:0021380 neoplasm of myocardium MONDO:0021209 NCIT:C5349 NCIT:C3081 heart neoplasm MONDO:0021385 extrahepatic bile duct neoplasm MONDO:0021662 NCIT:C4441 NCIT:C2898 bile duct neoplasm MONDO:0021386 neoplasm of mediastinum MONDO:0021350 NCIT:C3221 NCIT:C3406 neoplasm of thorax MONDO:0021388 neoplasm of chest wall MONDO:0021350 NCIT:C4929 NCIT:C3406 neoplasm of thorax MONDO:0021389 neoplasm of aortic body MONDO:0021052 NCIT:C4218 NCIT:C4217 parasympathetic paraganglioma MONDO:0021390 polyp of ureter MONDO:0005079 NCIT:C4530 NCIT:C3340 polyp MONDO:0021424 hemangiopericytoma of skin MONDO:0005094 NCIT:C4492 NCIT:C3087 hemangiopericytoma MONDO:0021427 squamous cell carcinoma of lip MONDO:0021333 NCIT:C4042 NCIT:C3490 carcinoma of lip MONDO:0021429 squamous cell carcinoma of floor of mouth MONDO:0004958 NCIT:C4041 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0021429 squamous cell carcinoma of floor of mouth MONDO:0021343 NCIT:C4041 NCIT:C9319 carcinoma of floor of mouth MONDO:0021431 squamous cell carcinoma of buccal mucosa MONDO:0004645 NCIT:C4040 NCIT:C9320 cheek mucosa cancer MONDO:0021431 squamous cell carcinoma of buccal mucosa MONDO:0004958 NCIT:C4040 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0021439 benign neoplasm of pituitary gland MONDO:0017611 NCIT:C4782 NCIT:C3330 pituitary tumor MONDO:0021440 benign neoplasm of skin MONDO:0002531 NCIT:C2896 NCIT:C3372 skin neoplasm MONDO:0021441 benign neoplasm of exocrine pancreas MONDO:0021076 NCIT:C4613 NCIT:C4445 pancreatic exocrine neoplasm MONDO:0021441 benign neoplasm of exocrine pancreas MONDO:0021470 NCIT:C4613 NCIT:C4612 benign neoplasm of pancreas MONDO:0021443 benign neoplasm of lymph node MONDO:0024339 NCIT:C3636 NCIT:C35497 lymph node neoplasm MONDO:0021444 benign neoplasm of large intestine MONDO:0003062 NCIT:C4610 NCIT:C4609 intestinal benign neoplasm MONDO:0021445 benign neoplasm of oral cavity MONDO:0021245 NCIT:C7607 NCIT:C7606 oral cavity neoplasm MONDO:0021446 benign neoplasm of epiglottis MONDO:0004109 NCIT:C4606 NCIT:C4933 epiglottis neoplasm MONDO:0021447 benign neoplasm of testis MONDO:0000625 NCIT:C3612 NCIT:C4777 benign male reproductive system neoplasm MONDO:0021447 benign neoplasm of testis MONDO:0021348 NCIT:C3612 NCIT:C3404 neoplasm of testis MONDO:0021449 benign neoplasm of stomach MONDO:0000385 NCIT:C3599 NCIT:C4787 benign digestive system neoplasm MONDO:0021449 benign neoplasm of stomach MONDO:0021085 NCIT:C3599 NCIT:C3387 gastric neoplasm MONDO:0021450 benign neoplasm of heart MONDO:0000634 NCIT:C3605 NCIT:C4565 thoracic benign neoplasm MONDO:0021450 benign neoplasm of heart MONDO:0021209 NCIT:C3605 NCIT:C3081 heart neoplasm MONDO:0021452 benign neoplasm of cornea MONDO:0021238 NCIT:C3623 NCIT:C4361 cornea neoplasm MONDO:0021452 benign neoplasm of cornea MONDO:0021454 NCIT:C3623 NCIT:C4780 benign neoplasm of eye MONDO:0021453 benign neoplasm of retina MONDO:0021231 NCIT:C3624 NCIT:C4800 retina neoplasm MONDO:0021453 benign neoplasm of retina MONDO:0021454 NCIT:C3624 NCIT:C4780 benign neoplasm of eye MONDO:0021454 benign neoplasm of eye MONDO:0021220 NCIT:C4780 NCIT:C3030 eye neoplasm MONDO:0021455 benign neoplasm of neck MONDO:0021351 NCIT:C4884 NCIT:C3260 neoplasm of neck MONDO:0021456 benign neoplasm of sternum MONDO:0021578 NCIT:C8416 NCIT:C6730 sternal neoplasm MONDO:0021457 benign neoplasm of pleura MONDO:0021065 NCIT:C3603 NCIT:C3332 pleural neoplasm MONDO:0021458 benign neoplasm of penis MONDO:0000625 NCIT:C3489 NCIT:C4777 benign male reproductive system neoplasm MONDO:0021458 benign neoplasm of penis MONDO:0006895 NCIT:C3489 NCIT:C3317 penile neoplasm MONDO:0021459 benign neoplasm of esophagus MONDO:0000385 NCIT:C3598 NCIT:C4787 benign digestive system neoplasm MONDO:0021459 benign neoplasm of esophagus MONDO:0021355 NCIT:C3598 NCIT:C3028 neoplasm of esophagus MONDO:0021460 benign neoplasm of salivary gland MONDO:0021357 NCIT:C4600 NCIT:C3361 tumor of salivary gland MONDO:0021461 benign neoplasm of hypopharynx MONDO:0021358 NCIT:C3596 NCIT:C3127 neoplasm of hypopharynx MONDO:0021461 benign neoplasm of hypopharynx MONDO:0021523 NCIT:C3596 NCIT:C3597 benign neoplasm of pharynx MONDO:0021462 benign neoplasm of rectum MONDO:0002165 NCIT:C4774 NCIT:C3350 rectal neoplasm MONDO:0021462 benign neoplasm of rectum MONDO:0021444 NCIT:C4774 NCIT:C4610 benign neoplasm of large intestine MONDO:0021463 benign neoplasm of parathyroid gland MONDO:0021360 NCIT:C3630 NCIT:C3313 tumor of parathyroid gland MONDO:0021464 benign neoplasm of cecum MONDO:0002278 NCIT:C4772 NCIT:C2894 benign colon neoplasm MONDO:0021464 benign neoplasm of cecum MONDO:0005694 NCIT:C4772 NCIT:C4433 cecal neoplasm MONDO:0021465 benign neoplasm of appendix MONDO:0001236 NCIT:C4773 NCIT:C4434 appendiceal neoplasm MONDO:0021467 benign neoplasm of renal pelvis MONDO:0002513 NCIT:C3616 NCIT:C4778 kidney benign neoplasm MONDO:0021467 benign neoplasm of renal pelvis MONDO:0003719 NCIT:C3616 NCIT:C8404 renal pelvis neoplasm MONDO:0021468 benign neoplasm of adrenal medulla MONDO:0021237 NCIT:C4895 NCIT:C4856 adrenal medulla neoplasm MONDO:0021468 benign neoplasm of adrenal medulla MONDO:0021511 NCIT:C4895 NCIT:C3629 benign neoplasm of adrenal gland MONDO:0021469 benign neoplasm of anus MONDO:0003046 NCIT:C4611 NCIT:C2877 anus neoplasm MONDO:0021470 benign neoplasm of pancreas MONDO:0000385 NCIT:C4612 NCIT:C4787 benign digestive system neoplasm MONDO:0021470 benign neoplasm of pancreas MONDO:0021040 NCIT:C4612 NCIT:C3305 pancreatic neoplasm MONDO:0021471 benign neoplasm of endometrium MONDO:0021251 NCIT:C4894 NCIT:C3012 endometrium neoplasm MONDO:0021472 benign neoplasm of scrotum MONDO:0003319 NCIT:C3615 NCIT:C4380 scrotum neoplasm MONDO:0021473 benign neoplasm of epididymis MONDO:0003283 NCIT:C3614 NCIT:C39958 epididymal neoplasm MONDO:0021474 benign neoplasm of ear MONDO:0021233 NCIT:C8417 NCIT:C3000 ear neoplasm MONDO:0021475 benign neoplasm of nasal cavity MONDO:0004756 NCIT:C4603 NCIT:C4413 nasal cavity neoplasm MONDO:0021476 benign neoplasm of tongue MONDO:0021240 NCIT:C3592 NCIT:C3416 tongue neoplasm MONDO:0021477 benign neoplasm of sphenoidal sinus MONDO:0004047 NCIT:C4422 NCIT:C6792 sphenoidal sinus neoplasm MONDO:0021478 benign neoplasm of nasopharynx MONDO:0005375 NCIT:C3595 NCIT:C3257 nasopharyngeal neoplasm MONDO:0021478 benign neoplasm of nasopharynx MONDO:0021523 NCIT:C3595 NCIT:C3597 benign neoplasm of pharynx MONDO:0021479 benign neoplasm of oropharynx MONDO:0021364 NCIT:C4604 NCIT:C3291 neoplasm of oropharynx MONDO:0021479 benign neoplasm of oropharynx MONDO:0021523 NCIT:C4604 NCIT:C3597 benign neoplasm of pharynx MONDO:0021481 benign neoplasm of submandibular gland MONDO:0021244 NCIT:C4891 NCIT:C3393 submandibular gland neoplasm MONDO:0021481 benign neoplasm of submandibular gland MONDO:0021492 NCIT:C4891 NCIT:C4771 benign neoplasm of major salivary gland MONDO:0021482 benign neoplasm of middle ear MONDO:0021366 NCIT:C4602 NCIT:C4412 neoplasm of middle ear MONDO:0021482 benign neoplasm of middle ear MONDO:0021474 NCIT:C4602 NCIT:C8417 benign neoplasm of ear MONDO:0021483 benign neoplasm of frontal sinus MONDO:0001757 NCIT:C4420 NCIT:C4419 frontal sinus neoplasm MONDO:0021484 benign neoplasm of maxillary sinus MONDO:0006850 NCIT:C4414 NCIT:C3219 maxillary sinus neoplasm MONDO:0021485 benign neoplasm of iris MONDO:0021224 NCIT:C4555 NCIT:C3142 iris neoplasm MONDO:0021486 benign neoplasm of ciliary body MONDO:0021229 NCIT:C4779 NCIT:C4364 ciliary body neoplasm MONDO:0021487 benign neoplasm of choroid MONDO:0021258 NCIT:C3625 NCIT:C2949 choroid neoplasm MONDO:0021488 benign neoplasm of lacrimal gland MONDO:0021222 NCIT:C3621 NCIT:C4360 lacrimal gland neoplasm MONDO:0021489 benign neoplasm of sweat gland MONDO:0002381 NCIT:C4879 NCIT:C3398 sweat gland neoplasm MONDO:0021490 benign neoplasm of sebaceous gland MONDO:0006963 NCIT:C8525 NCIT:C3363 sebaceous gland neoplasm MONDO:0021491 benign neoplasm of gum MONDO:0021086 NCIT:C4598 NCIT:C3057 gingival neoplasm MONDO:0021492 benign neoplasm of major salivary gland MONDO:0021368 NCIT:C4771 NCIT:C4407 neoplasm of major salivary gland MONDO:0021492 benign neoplasm of major salivary gland MONDO:0021460 NCIT:C4771 NCIT:C4600 benign neoplasm of salivary gland MONDO:0021493 benign neoplasm of minor salivary gland MONDO:0021370 NCIT:C4411 NCIT:C4409 neoplasm of minor salivary gland MONDO:0021493 benign neoplasm of minor salivary gland MONDO:0021460 NCIT:C4411 NCIT:C4600 benign neoplasm of salivary gland MONDO:0021494 benign neoplasm of parotid gland MONDO:0021243 NCIT:C4770 NCIT:C3314 parotid gland neoplasm MONDO:0021494 benign neoplasm of parotid gland MONDO:0021492 NCIT:C4770 NCIT:C4771 benign neoplasm of major salivary gland MONDO:0021495 benign neoplasm of sublingual gland MONDO:0021242 NCIT:C4601 NCIT:C3392 sublingual gland neoplasm MONDO:0021495 benign neoplasm of sublingual gland MONDO:0021492 NCIT:C4601 NCIT:C4771 benign neoplasm of major salivary gland MONDO:0021496 benign neoplasm of lip MONDO:0021249 NCIT:C3591 NCIT:C3191 lip neoplasm MONDO:0021498 benign neoplasm of placenta MONDO:0021218 NCIT:C8545 NCIT:C4858 placenta neoplasm MONDO:0021499 benign neoplasm of cerebellum MONDO:0002913 NCIT:C4955 NCIT:C2935 cerebellar neoplasm MONDO:0021500 benign neoplasm of spleen MONDO:0036696 NCIT:C4902 NCIT:C3383 spleen neoplasm MONDO:0021501 benign neoplasm of small intestine MONDO:0003062 NCIT:C3600 NCIT:C4609 intestinal benign neoplasm MONDO:0021501 benign neoplasm of small intestine MONDO:0004251 NCIT:C3600 NCIT:C4432 small intestine neoplasm MONDO:0021503 benign neoplasm of gallbladder MONDO:0000385 NCIT:C4440 NCIT:C4787 benign digestive system neoplasm MONDO:0021503 benign neoplasm of gallbladder MONDO:0021253 NCIT:C4440 NCIT:C3048 gallbladder neoplasm MONDO:0021505 benign neoplasm of endocardium MONDO:0021378 NCIT:C4608 NCIT:C5346 neoplasm of endocardium MONDO:0021505 benign neoplasm of endocardium MONDO:0021450 NCIT:C4608 NCIT:C3605 benign neoplasm of heart MONDO:0021506 benign neoplasm of spinal cord MONDO:0000628 NCIT:C3627 NCIT:C188049 central nervous system organ benign neoplasm MONDO:0021506 benign neoplasm of spinal cord MONDO:0021234 NCIT:C3627 NCIT:C3381 spinal cord neoplasm MONDO:0021508 benign neoplasm of epicardium MONDO:0021379 NCIT:C8535 NCIT:C5347 neoplasm of epicardium MONDO:0021508 benign neoplasm of epicardium MONDO:0021450 NCIT:C8535 NCIT:C3605 benign neoplasm of heart MONDO:0021509 benign neoplasm of myocardium MONDO:0021380 NCIT:C4607 NCIT:C5349 neoplasm of myocardium MONDO:0021509 benign neoplasm of myocardium MONDO:0021450 NCIT:C4607 NCIT:C3605 benign neoplasm of heart MONDO:0021510 benign neoplasm of prostate MONDO:0000625 NCIT:C3613 NCIT:C4777 benign male reproductive system neoplasm MONDO:0021510 benign neoplasm of prostate MONDO:0021259 NCIT:C3613 NCIT:C3343 prostate neoplasm MONDO:0021511 benign neoplasm of adrenal gland MONDO:0021227 NCIT:C3629 NCIT:C2859 adrenal gland neoplasm MONDO:0021512 benign neoplasm of thymus MONDO:0005197 NCIT:C4458 NCIT:C3412 thymus neoplasm MONDO:0021513 benign neoplasm of tonsil MONDO:0021250 NCIT:C3594 NCIT:C3417 tonsil neoplasm MONDO:0021514 benign neoplasm of pericardium MONDO:0000634 NCIT:C8536 NCIT:C4565 thoracic benign neoplasm MONDO:0021514 benign neoplasm of pericardium MONDO:0021381 NCIT:C8536 NCIT:C4651 neoplasm of pericardium MONDO:0021515 benign neoplasm of ethmoidal sinus MONDO:0001764 NCIT:C4417 NCIT:C4416 ethmoidal sinus neoplasm MONDO:0021516 benign neoplasm of glottis MONDO:0002353 NCIT:C4605 NCIT:C4425 glottis neoplasm MONDO:0021516 benign neoplasm of glottis MONDO:0002354 NCIT:C4605 NCIT:C3601 benign laryngeal neoplasm MONDO:0021517 benign neoplasm of trachea MONDO:0000382 NCIT:C3602 NCIT:C8531 respiratory system benign neoplasm MONDO:0021517 benign neoplasm of trachea MONDO:0021210 NCIT:C3602 NCIT:C3419 trachea neoplasm MONDO:0021518 benign neoplasm of hard palate MONDO:0021445 NCIT:C4403 NCIT:C7607 benign neoplasm of oral cavity MONDO:0021520 benign neoplasm of floor of mouth MONDO:0021383 NCIT:C3593 NCIT:C4401 neoplasm of floor of mouth MONDO:0021521 benign neoplasm of mediastinum MONDO:0000634 NCIT:C3604 NCIT:C4565 thoracic benign neoplasm MONDO:0021521 benign neoplasm of mediastinum MONDO:0021386 NCIT:C3604 NCIT:C3221 neoplasm of mediastinum MONDO:0021522 benign neoplasm of lower jaw bone MONDO:0000631 NCIT:C34417 NCIT:C4880 bone benign neoplasm MONDO:0021523 benign neoplasm of pharynx MONDO:0021246 NCIT:C3597 NCIT:C3325 pharynx neoplasm MONDO:0021524 benign neoplasm of buccal mucosa MONDO:0021241 NCIT:C4406 NCIT:C4405 buccal mucosa neoplasm MONDO:0021525 benign neoplasm of corpus uteri MONDO:0000632 NCIT:C3608 NCIT:C3609 uterine benign neoplasm MONDO:0021525 benign neoplasm of corpus uteri MONDO:0021254 NCIT:C3608 NCIT:C6300 corpus uteri neoplasm MONDO:0021527 benign neoplasm of meninges MONDO:0000628 NCIT:C4957 NCIT:C188049 central nervous system organ benign neoplasm MONDO:0021527 benign neoplasm of meninges MONDO:0016743 NCIT:C4957 NCIT:C3229 tumor of meninges MONDO:0021528 benign neoplasm of male breast MONDO:0000620 NCIT:C4620 NCIT:C4505 breast benign neoplasm MONDO:0021529 benign neoplasm of chest wall MONDO:0000634 NCIT:C8529 NCIT:C4565 thoracic benign neoplasm MONDO:0021529 benign neoplasm of chest wall MONDO:0021388 NCIT:C8529 NCIT:C4929 neoplasm of chest wall MONDO:0021530 benign neoplasm of subglottis MONDO:0000933 NCIT:C4427 NCIT:C4426 subglottis neoplasm MONDO:0021530 benign neoplasm of subglottis MONDO:0002354 NCIT:C4427 NCIT:C3601 benign laryngeal neoplasm MONDO:0021531 fibroma of lung MONDO:0005167 NCIT:C5658 NCIT:C3041 fibroma MONDO:0021532 fibroma of prostate MONDO:0005167 NCIT:C3972 NCIT:C3041 fibroma MONDO:0021532 fibroma of prostate MONDO:0021510 NCIT:C3972 NCIT:C3613 benign neoplasm of prostate MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0006162 NCIT:C5547 NCIT:C96160 colorectal neuroendocrine tumor G1 MONDO:0021534 rectal neuroendocrine tumor G1 MONDO:0015068 NCIT:C5547 NCIT:C135213 rectal neuroendocrine tumor MONDO:0021535 pancreatic neuroendocrine tumor G1 MONDO:0019954 NCIT:C95584 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0004958 NCIT:C8174 NCIT:C4833 oral cavity squamous cell carcinoma MONDO:0021538 verrucous carcinoma of oral cavity MONDO:0006006 NCIT:C8174 NCIT:C3781 verrucous carcinoma MONDO:0021542 hemangioma of choroid MONDO:0006500 NCIT:C4562 NCIT:C3085 hemangioma MONDO:0021542 hemangioma of choroid MONDO:0021487 NCIT:C4562 NCIT:C3625 benign neoplasm of choroid MONDO:0021543 hemangioma of gingiva MONDO:0021491 NCIT:C4831 NCIT:C4598 benign neoplasm of gum MONDO:0021545 myomatous neoplasm MONDO:0002616 NCIT:C4063 NCIT:C7059 mesenchymal cell neoplasm MONDO:0021576 fallopian tube endometrioid tumor MONDO:0021092 NCIT:C40111 NCIT:C3032 fallopian tube neoplasm MONDO:0021583 melanocytic skin neoplasm MONDO:0002531 NCIT:C7161 NCIT:C3372 skin neoplasm MONDO:0021583 melanocytic skin neoplasm MONDO:0021143 NCIT:C7161 NCIT:C7058 melanocytic neoplasm MONDO:0021588 eyelid sebaceous gland carcinoma MONDO:0003876 NCIT:C134831 NCIT:C6078 eyelid carcinoma MONDO:0021588 eyelid sebaceous gland carcinoma MONDO:0006327 NCIT:C134831 NCIT:C43340 ocular sebaceous carcinoma MONDO:0021605 benign eyelid neoplasm MONDO:0002235 NCIT:C4354 NCIT:C3031 eyelid neoplasm MONDO:0021605 benign eyelid neoplasm MONDO:0021454 NCIT:C4354 NCIT:C4780 benign neoplasm of eye MONDO:0021607 eyelid seborrheic keratosis MONDO:0008420 NCIT:C4356 NCIT:C9006 seborrheic keratosis MONDO:0021627 eyelid capillary hemangioma MONDO:0002407 NCIT:C4357 NCIT:C7457 capillary hemangioma MONDO:0021627 eyelid capillary hemangioma MONDO:0021605 NCIT:C4357 NCIT:C4354 benign eyelid neoplasm MONDO:0021631 brain astrocytoma MONDO:0019781 NCIT:C60780 NCIT:C60781 astrocytoma (excluding glioblastoma) MONDO:0021631 brain astrocytoma MONDO:0021632 NCIT:C60780 NCIT:C170814 primary brain neoplasm MONDO:0021632 primary brain neoplasm MONDO:0021211 NCIT:C170814 NCIT:C2907 brain neoplasm MONDO:0021633 cerebral astrocytoma MONDO:0021631 NCIT:C4951 NCIT:C60780 brain astrocytoma MONDO:0021634 epithelial skin neoplasm MONDO:0002531 NCIT:C7342 NCIT:C3372 skin neoplasm MONDO:0021634 epithelial skin neoplasm MONDO:0005626 NCIT:C7342 NCIT:C3709 epithelial neoplasm MONDO:0021636 astrocytic tumor MONDO:0021042 NCIT:C6958 NCIT:C3059 glioma MONDO:0021637 low grade glioma MONDO:0021042 NCIT:C132067 NCIT:C3059 glioma MONDO:0021638 low grade astrocytic tumor MONDO:0021637 NCIT:C116342 NCIT:C132067 low grade glioma MONDO:0021639 grade II glioma MONDO:0021637 NCIT:C132505 NCIT:C132067 low grade glioma MONDO:0021640 grade III glioma MONDO:0100342 NCIT:C127816 NCIT:C4822 malignant glioma MONDO:0021650 uterine corpus neuroendocrine neoplasm MONDO:0019496 NCIT:C126771 NCIT:C3809 neuroendocrine neoplasm MONDO:0021650 uterine corpus neuroendocrine neoplasm MONDO:0021254 NCIT:C126771 NCIT:C6300 corpus uteri neoplasm MONDO:0021652 diffuse type adenocarcinoma MONDO:0004970 NCIT:C4127 NCIT:C2852 adenocarcinoma MONDO:0021656 nongerminomatous germ cell tumor MONDO:0005040 NCIT:C121619 NCIT:C3708 germ cell tumor MONDO:0021657 ovarian sex cord-stromal tumor MONDO:0006055 NCIT:C4862 NCIT:C3794 sex cord-stromal tumor MONDO:0021657 ovarian sex cord-stromal tumor MONDO:0021068 NCIT:C4862 NCIT:C4984 ovarian neoplasm MONDO:0021659 combined carcinoid and adenocarcinoma MONDO:0004993 NCIT:C4139 NCIT:C2916 carcinoma MONDO:0021662 bile duct neoplasm MONDO:0002887 NCIT:C2898 NCIT:C96716 bile duct disorder MONDO:0021663 sarcomatoid squamous cell carcinoma MONDO:0005096 NCIT:C27084 NCIT:C2929 squamous cell carcinoma MONDO:0021663 sarcomatoid squamous cell carcinoma MONDO:0006406 NCIT:C27084 NCIT:C27004 sarcomatoid carcinoma MONDO:0021812 adnexal spiradenoma/cylindroma of a sweat gland MONDO:0021489 NCIT:C27094 NCIT:C4879 benign neoplasm of sweat gland MONDO:0021879 small cell variant anaplastic large cell lymphoma MONDO:0020325 NCIT:C7208 NCIT:C3720 anaplastic large cell lymphoma MONDO:0022096 pyogenic granuloma MONDO:0002407 NCIT:C3480 NCIT:C7457 capillary hemangioma MONDO:0022578 childhood bladder carcinoma MONDO:0004986 NCIT:C118816 NCIT:C4912 urinary bladder carcinoma MONDO:0022963 desmoplastic infantile astrocytoma MONDO:0016729 NCIT:C9476 NCIT:C4747 mixed neuronal-glial tumor MONDO:0022965 desmoplastic infantile ganglioglioma MONDO:0016729 NCIT:C4738 NCIT:C4747 mixed neuronal-glial tumor MONDO:0023122 familial prostate carcinoma MONDO:0005159 NCIT:C103817 NCIT:C4863 prostate carcinoma MONDO:0023206 functional pancreatic neuroendocrine tumor MONDO:0019954 NCIT:C45840 NCIT:C27720 pancreatic neuroendocrine tumor MONDO:0023206 functional pancreatic neuroendocrine tumor MONDO:0021120 NCIT:C45840 NCIT:C94759 functioning endocrine neoplasm MONDO:0023273 pigmented dermatofibrosarcoma protuberans MONDO:0011934 NCIT:C9430 NCIT:C4683 dermatofibrosarcoma protuberans MONDO:0023283 ovarian granulosa cell tumor MONDO:0006036 NCIT:C6261 NCIT:C3070 granulosa cell tumor MONDO:0023597 laryngeal papillomatosis MONDO:0018955 NCIT:C157733 NCIT:C128637 recurrent respiratory papillomatosis MONDO:0023644 lip and oral cavity carcinoma MONDO:0002038 NCIT:C9315 NCIT:C35850 head and neck carcinoma MONDO:0023726 mediastinal yolk sac tumor MONDO:0005744 NCIT:C6443 NCIT:C3011 yolk sac tumor MONDO:0024235 Brenner tumor MONDO:0037254 NCIT:C39954 NCIT:C6783 transitional cell neoplasm MONDO:0024240 eccrine carcinoma MONDO:0005506 NCIT:C27255 NCIT:C5559 eccrine sweat gland cancer MONDO:0024240 eccrine carcinoma MONDO:0005524 NCIT:C27255 NCIT:C6938 sweat gland carcinoma MONDO:0024245 ductal eccrine adenocarcinoma MONDO:0024240 NCIT:C43345 NCIT:C27255 eccrine carcinoma MONDO:0024246 syringofibroadenoma MONDO:0021110 NCIT:C43356 NCIT:C7560 sweat gland adenoma MONDO:0024246 syringofibroadenoma MONDO:0024247 NCIT:C43356 NCIT:C6797 benign eccrine neoplasm MONDO:0024247 benign eccrine neoplasm MONDO:0002090 NCIT:C6797 NCIT:C6796 eccrine sweat gland neoplasm MONDO:0024247 benign eccrine neoplasm MONDO:0021489 NCIT:C6797 NCIT:C4879 benign neoplasm of sweat gland MONDO:0024276 glandular cell neoplasm MONDO:0005626 NCIT:C7132 NCIT:C3709 epithelial neoplasm MONDO:0024282 mucinous ovarian cancer MONDO:0003756 NCIT:C40033 NCIT:C5242 ovarian mucinous neoplasm MONDO:0024282 mucinous ovarian cancer MONDO:0018364 NCIT:C40033 NCIT:C40026 malignant epithelial tumor of ovary MONDO:0024286 benign blood vessel neoplasm MONDO:0021080 NCIT:C8537 NCIT:C7387 blood vessel neoplasm MONDO:0024296 vascular neoplasm MONDO:0024757 NCIT:C7388 NCIT:C4784 cardiovascular neoplasm MONDO:0024320 inner ear neoplasm MONDO:0002467 NCIT:C39784 NCIT:C27166 inner ear disorder MONDO:0024320 inner ear neoplasm MONDO:0021233 NCIT:C39784 NCIT:C3000 ear neoplasm MONDO:0024323 glomangiomyoma MONDO:0018327 NCIT:C4223 NCIT:C3060 glomus tumor MONDO:0024326 pleural adenomatoid tumor MONDO:0003308 NCIT:C4499 NCIT:C9351 pleural mesothelioma MONDO:0024326 pleural adenomatoid tumor MONDO:0004230 NCIT:C4499 NCIT:C3762 adenomatoid tumor MONDO:0024326 pleural adenomatoid tumor MONDO:0021457 NCIT:C4499 NCIT:C3603 benign neoplasm of pleura MONDO:0024331 colorectal carcinoma MONDO:0005575 NCIT:C2955 NCIT:C4978 colorectal cancer MONDO:0024331 colorectal carcinoma MONDO:0006181 NCIT:C2955 NCIT:C96963 digestive system carcinoma MONDO:0024336 vulvar adenocarcinoma MONDO:0002198 NCIT:C6380 NCIT:C40292 vulvar glandular neoplasm MONDO:0024336 vulvar adenocarcinoma MONDO:0004970 NCIT:C6380 NCIT:C2852 adenocarcinoma MONDO:0024336 vulvar adenocarcinoma MONDO:0005215 NCIT:C6380 NCIT:C4866 vulvar carcinoma MONDO:0024337 urothelial neoplasm MONDO:0021066 NCIT:C39852 NCIT:C192666 urinary system neoplasm MONDO:0024337 urothelial neoplasm MONDO:0037254 NCIT:C39852 NCIT:C6783 transitional cell neoplasm MONDO:0024338 mucinous neoplasm MONDO:0024276 NCIT:C7070 NCIT:C7132 glandular cell neoplasm MONDO:0024339 lymph node neoplasm MONDO:0002334 NCIT:C35497 NCIT:C35813 hematopoietic and lymphoid system neoplasm MONDO:0024339 lymph node neoplasm MONDO:0004928 NCIT:C35497 NCIT:C35346 lymph node disorder MONDO:0024340 retinal neuroblastoma MONDO:0005072 NCIT:C6956 NCIT:C3270 neuroblastoma MONDO:0024341 retinal cell neoplasm MONDO:0021231 NCIT:C7061 NCIT:C4800 retina neoplasm MONDO:0024386 large cell lung carcinoma, clear cell variant MONDO:0003050 NCIT:C4451 NCIT:C4450 lung large cell carcinoma MONDO:0024387 benign ovarian sex cord-stromal tumor MONDO:0000646 NCIT:C6803 NCIT:C2895 ovarian benign neoplasm MONDO:0024387 benign ovarian sex cord-stromal tumor MONDO:0021657 NCIT:C6803 NCIT:C4862 ovarian sex cord-stromal tumor MONDO:0024461 angiomatosis MONDO:0024286 NCIT:C27503 NCIT:C8537 benign blood vessel neoplasm MONDO:0024469 chondrogenic neoplasm MONDO:0002616 NCIT:C4755 NCIT:C7059 mesenchymal cell neoplasm MONDO:0024470 benign chondrogenic neoplasm MONDO:0024469 NCIT:C8592 NCIT:C4755 chondrogenic neoplasm MONDO:0024474 intraepithelial neoplasia MONDO:0005626 NCIT:C8366 NCIT:C3709 epithelial neoplasm MONDO:0024474 intraepithelial neoplasia MONDO:0021074 NCIT:C8366 NCIT:C3341 precancerous condition MONDO:0024475 squamous cell intraepithelial neoplasia MONDO:0002532 NCIT:C8334 NCIT:C3792 squamous cell neoplasm MONDO:0024475 squamous cell intraepithelial neoplasia MONDO:0024474 NCIT:C8334 NCIT:C8366 intraepithelial neoplasia MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0002514 NCIT:C7103 NCIT:C8614 hepatobiliary neoplasm MONDO:0024477 liver and intrahepatic bile duct neoplasm MONDO:0005154 NCIT:C7103 NCIT:C3196 liver disorder MONDO:0024499 vascular bone neoplasm MONDO:0019060 NCIT:C6478 NCIT:C9343 bone neoplasm MONDO:0024499 vascular bone neoplasm MONDO:0024296 NCIT:C6478 NCIT:C7388 vascular neoplasm MONDO:0024501 appendix neuroendocrine neoplasm MONDO:0001236 NCIT:C60709 NCIT:C4434 appendiceal neoplasm MONDO:0024502 gallbladder neuroendocrine neoplasm MONDO:0021253 NCIT:C96917 NCIT:C3048 gallbladder neoplasm MONDO:0024502 gallbladder neuroendocrine neoplasm MONDO:0024503 NCIT:C96917 NCIT:C27721 digestive system neuroendocrine neoplasm MONDO:0024503 digestive system neuroendocrine neoplasm MONDO:0019496 NCIT:C27721 NCIT:C3809 neuroendocrine neoplasm MONDO:0024503 digestive system neuroendocrine neoplasm MONDO:0021223 NCIT:C27721 NCIT:C3052 digestive system neoplasm MONDO:0024517 SMARCB1-related schwannomatosis MONDO:0008075 NCIT:C186703 NCIT:C6557 schwannomatosis MONDO:0024582 male reproductive system neoplasm MONDO:0003150 NCIT:C3054 NCIT:C27019 male reproductive system disorder MONDO:0024582 male reproductive system neoplasm MONDO:0006054 NCIT:C3054 NCIT:C3674 reproductive system neoplasm MONDO:0024609 vulvar squamous cell carcinoma MONDO:0002195 NCIT:C4052 NCIT:C40283 vulvar squamous neoplasm MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005096 NCIT:C4052 NCIT:C2929 squamous cell carcinoma MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005215 NCIT:C4052 NCIT:C4866 vulvar carcinoma MONDO:0024615 T-cell and NK-cell neoplasm MONDO:0005157 NCIT:C27908 NCIT:C7065 lymphoid neoplasm MONDO:0024621 serous cystadenocarcinoma MONDO:0005278 NCIT:C3778 NCIT:C40101 serous adenocarcinoma MONDO:0024621 serous cystadenocarcinoma MONDO:0005596 NCIT:C3778 NCIT:C2971 cystadenocarcinoma MONDO:0024622 thyroid gland adenocarcinoma MONDO:0004970 NCIT:C27380 NCIT:C2852 adenocarcinoma MONDO:0024622 thyroid gland adenocarcinoma MONDO:0015075 NCIT:C27380 NCIT:C4815 thyroid gland carcinoma MONDO:0024637 malignant soft tissue neoplasm MONDO:0004992 NCIT:C4867 NCIT:C9305 cancer MONDO:0024637 malignant soft tissue neoplasm MONDO:0006424 NCIT:C4867 NCIT:C3377 soft tissue neoplasm MONDO:0024638 pancreatic gastrinoma MONDO:0003525 NCIT:C95596 NCIT:C9069 pancreatic gastrin-producing neuroendocrine tumor MONDO:0024638 pancreatic gastrinoma MONDO:0023206 NCIT:C95596 NCIT:C45840 functional pancreatic neuroendocrine tumor MONDO:0024639 gastric enterochromaffin cell serotonin-producing neuroendocrine tumor MONDO:0015062 NCIT:C27443 NCIT:C95871 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0024642 gastric neuroendocrine tumor G2 MONDO:0015062 NCIT:C95880 NCIT:C95871 gastric neuroendocrine tumor, well differentiated, low or intermediate grade MONDO:0024649 optic tract astrocytoma MONDO:0016167 NCIT:C7533 NCIT:C8567 optic pathway glioma MONDO:0024653 skull neoplasm MONDO:0005586 NCIT:C3375 NCIT:C3077 head and neck neoplasm MONDO:0024653 skull neoplasm MONDO:0024654 NCIT:C3375 NCIT:C27655 skull disorder MONDO:0024656 colorectal lymphoma MONDO:0004699 NCIT:C96498 NCIT:C38162 gastrointestinal lymphoma MONDO:0024656 colorectal lymphoma MONDO:0005575 NCIT:C96498 NCIT:C4978 colorectal cancer MONDO:0024658 extrahepatic bile duct sarcoma MONDO:0021321 NCIT:C5029 NCIT:C7483 malignant tumor of extrahepatic bile duct MONDO:0024662 colorectal tubulovillous adenoma MONDO:0024661 NCIT:C5675 NCIT:C4143 tubulovillous adenoma MONDO:0024666 benign epithelial skin neoplasm MONDO:0021440 NCIT:C7341 NCIT:C2896 benign neoplasm of skin MONDO:0024666 benign epithelial skin neoplasm MONDO:0021634 NCIT:C7341 NCIT:C7342 epithelial skin neoplasm MONDO:0024666 benign epithelial skin neoplasm MONDO:0036976 NCIT:C7341 NCIT:C4092 benign epithelial neoplasm MONDO:0024673 skin lymphangioma MONDO:0002013 NCIT:C27509 NCIT:C8965 lymphangioma MONDO:0024675 adult kidney Wilms tumor MONDO:0019004 NCIT:C6180 NCIT:C40407 kidney Wilms tumor MONDO:0024676 childhood kidney Wilms tumor MONDO:0019004 NCIT:C27730 NCIT:C40407 kidney Wilms tumor MONDO:0024676 childhood kidney Wilms tumor MONDO:0036511 NCIT:C27730 NCIT:C123907 childhood malignant kidney neoplasm MONDO:0024677 pancreatic insulinoma MONDO:0005048 NCIT:C95598 NCIT:C3140 pancreatic insulin-producing neuroendocrine tumor MONDO:0024677 pancreatic insulinoma MONDO:0023206 NCIT:C95598 NCIT:C45840 functional pancreatic neuroendocrine tumor MONDO:0024685 Philadelphia-positive myelogenous leukemia MONDO:0004643 NCIT:C3177 NCIT:C3172 myeloid leukemia MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0002522 NCIT:C3401 NCIT:C3402 tenosynovial giant cell tumor MONDO:0024686 tenosynovial giant cell tumor, diffuse type MONDO:0024715 NCIT:C3401 NCIT:C3829 benign synovial neoplasm MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney MONDO:0002367 NCIT:C37265 NCIT:C7548 kidney cancer MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney MONDO:0002386 NCIT:C37265 NCIT:C37263 mixed epithelial stromal tumor of the kidney MONDO:0024711 malignant mixed epithelial stromal tumor of the kidney MONDO:0005853 NCIT:C37265 NCIT:C3729 malignant mixed neoplasm MONDO:0024715 benign synovial neoplasm MONDO:0002528 NCIT:C3829 NCIT:C8964 synovium neoplasm MONDO:0024715 benign synovial neoplasm MONDO:0044335 NCIT:C3829 NCIT:C4242 benign soft tissue neoplasm MONDO:0024744 childhood choroid plexus neoplasm MONDO:0016717 NCIT:C42080 NCIT:C3473 choroid plexus neoplasm MONDO:0024746 immature teratoma MONDO:0002601 NCIT:C4286 NCIT:C3403 teratoma MONDO:0024757 cardiovascular neoplasm MONDO:0004995 NCIT:C4784 NCIT:C2931 cardiovascular disorder MONDO:0024797 adult brain stem neoplasm MONDO:0021228 NCIT:C5967 NCIT:C4869 brainstem neoplasm MONDO:0024813 pulmonary sulcus neoplasm MONDO:0021117 NCIT:C27710 NCIT:C3200 lung neoplasm MONDO:0024857 immature extragonadal teratoma MONDO:0024746 NCIT:C8884 NCIT:C4286 immature teratoma MONDO:0024861 mixed teratoma and seminoma MONDO:0015864 NCIT:C9010 NCIT:C4290 mixed germ cell tumor MONDO:0024868 metastatic carcinoma in the adrenal medulla MONDO:0024879 NCIT:C9276 NCIT:C3482 metastatic carcinoma MONDO:0024873 clitoral carcinoma MONDO:0002290 NCIT:C9362 NCIT:C3557 clitoris cancer MONDO:0024873 clitoral carcinoma MONDO:0005215 NCIT:C9362 NCIT:C4866 vulvar carcinoma MONDO:0024878 secondary carcinoma MONDO:0004993 NCIT:C36310 NCIT:C2916 carcinoma MONDO:0024878 secondary carcinoma MONDO:0024881 NCIT:C36310 NCIT:C4968 secondary malignant neoplasm MONDO:0024879 metastatic carcinoma MONDO:0024878 NCIT:C3482 NCIT:C36310 secondary carcinoma MONDO:0024879 metastatic carcinoma MONDO:0024880 NCIT:C3482 NCIT:C36263 metastatic malignant neoplasm MONDO:0024880 metastatic malignant neoplasm MONDO:0024881 NCIT:C36263 NCIT:C4968 secondary malignant neoplasm MONDO:0024880 metastatic malignant neoplasm MONDO:0024883 NCIT:C36263 NCIT:C3261 metastatic neoplasm MONDO:0024881 secondary malignant neoplasm MONDO:0004992 NCIT:C4968 NCIT:C9305 cancer MONDO:0024881 secondary malignant neoplasm MONDO:0024882 NCIT:C4968 NCIT:C36255 secondary neoplasm MONDO:0024884 metastatic carcinoma in the bone MONDO:0024879 NCIT:C36082 NCIT:C3482 metastatic carcinoma MONDO:0024885 malignant ovarian serous tumor MONDO:0018364 NCIT:C40025 NCIT:C40026 malignant epithelial tumor of ovary MONDO:0024885 malignant ovarian serous tumor MONDO:0037255 NCIT:C40025 NCIT:C8431 ovarian serous tumor MONDO:0024886 serous adenofibroma MONDO:0006071 NCIT:C67090 NCIT:C8984 adenofibroma MONDO:0024890 pineal parenchymal cell neoplasm MONDO:0021193 NCIT:C6965 NCIT:C3787 neuroepithelial neoplasm MONDO:0024890 pineal parenchymal cell neoplasm MONDO:0021232 NCIT:C6965 NCIT:C3328 pineal body neoplasm MONDO:0024892 soft tissue amyloid neoplasm MONDO:0019065 NCIT:C8323 NCIT:C2868 amyloidosis MONDO:0027772 lung colloid adenocarcinoma MONDO:0004957 NCIT:C45512 NCIT:C26712 mucinous adenocarcinoma MONDO:0027772 lung colloid adenocarcinoma MONDO:0005061 NCIT:C45512 NCIT:C3512 lung adenocarcinoma MONDO:0030604 cystic partially differentiated nephroblastoma MONDO:0004356 NCIT:C6897 NCIT:C6566 childhood multilocular cystic kidney neoplasm MONDO:0030604 cystic partially differentiated nephroblastoma MONDO:0024676 NCIT:C6897 NCIT:C27730 childhood kidney Wilms tumor MONDO:0035112 acute myeloid leukemia with BCR-ABL1 MONDO:0018874 NCIT:C129785 NCIT:C3171 acute myeloid leukemia MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement MONDO:0015688 NCIT:C129853 NCIT:C84270 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) MONDO:0020743 NCIT:C82203 NCIT:C82179 mixed phenotype acute leukemia MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) MONDO:0035605 NCIT:C80331 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) MONDO:0035605 NCIT:C80332 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) MONDO:0035605 NCIT:C80334 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy MONDO:0035605 NCIT:C80335 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy MONDO:0035605 NCIT:C80338 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) MONDO:0035605 NCIT:C80340 NCIT:C80328 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0036501 refractory malignant neoplasm MONDO:0004992 NCIT:C120186 NCIT:C9305 cancer MONDO:0036511 childhood malignant kidney neoplasm MONDO:0002367 NCIT:C123907 NCIT:C7548 kidney cancer MONDO:0036511 childhood malignant kidney neoplasm MONDO:0002730 NCIT:C123907 NCIT:C6563 childhood kidney neoplasm MONDO:0036591 adrenal cortex neoplasm MONDO:0021227 NCIT:C2858 NCIT:C2859 adrenal gland neoplasm MONDO:0036595 ovarian Sertoli-Leydig cell tumor MONDO:0020807 NCIT:C2880 NCIT:C39966 ovarian sertoli-stromal cell tumor MONDO:0036688 rhabdomyoma MONDO:0003061 NCIT:C3358 NCIT:C4882 benign muscle neoplasm MONDO:0036696 spleen neoplasm MONDO:0002332 NCIT:C3383 NCIT:C35823 splenic disorder MONDO:0036696 spleen neoplasm MONDO:0002334 NCIT:C3383 NCIT:C35813 hematopoietic and lymphoid system neoplasm MONDO:0036779 axillary neoplasm MONDO:0021350 NCIT:C35749 NCIT:C3406 neoplasm of thorax MONDO:0036781 benign axillary neoplasm MONDO:0000634 NCIT:C35750 NCIT:C4565 thoracic benign neoplasm MONDO:0036781 benign axillary neoplasm MONDO:0036779 NCIT:C35750 NCIT:C35749 axillary neoplasm MONDO:0036870 lymphatic vessel neoplasm MONDO:0024296 NCIT:C3723 NCIT:C7388 vascular neoplasm MONDO:0036915 benign ovarian mucinous tumor MONDO:0003756 NCIT:C40039 NCIT:C5242 ovarian mucinous neoplasm MONDO:0036976 benign epithelial neoplasm MONDO:0005165 NCIT:C4092 NCIT:C3677 benign neoplasm MONDO:0036976 benign epithelial neoplasm MONDO:0005626 NCIT:C4092 NCIT:C3709 epithelial neoplasm MONDO:0036990 benign Leydig cell tumor MONDO:0006266 NCIT:C4212 NCIT:C3188 Leydig cell tumor MONDO:0037002 benign phyllodes tumor MONDO:0005078 NCIT:C4274 NCIT:C2977 phyllodes tumor MONDO:0037002 benign phyllodes tumor MONDO:0005165 NCIT:C4274 NCIT:C3677 benign neoplasm MONDO:0037003 malignant phyllodes tumor MONDO:0005078 NCIT:C4275 NCIT:C2977 phyllodes tumor MONDO:0037003 malignant phyllodes tumor MONDO:0005853 NCIT:C4275 NCIT:C3729 malignant mixed neoplasm MONDO:0037105 lung germ cell tumor MONDO:0018201 NCIT:C45636 NCIT:C3918 extragonadal germ cell tumor MONDO:0037105 lung germ cell tumor MONDO:0021117 NCIT:C45636 NCIT:C3200 lung neoplasm MONDO:0037250 childhood testicular neoplasm MONDO:0021348 NCIT:C5053 NCIT:C3404 neoplasm of testis MONDO:0037253 ovarian thecoma MONDO:0037252 NCIT:C66989 NCIT:C3405 thecoma MONDO:0037254 transitional cell neoplasm MONDO:0005626 NCIT:C6783 NCIT:C3709 epithelial neoplasm MONDO:0037255 ovarian serous tumor MONDO:0002229 NCIT:C8431 NCIT:C4381 ovarian epithelial tumor MONDO:0037255 ovarian serous tumor MONDO:0037256 NCIT:C8431 NCIT:C7074 serous neoplasm MONDO:0037256 serous neoplasm MONDO:0024276 NCIT:C7074 NCIT:C7132 glandular cell neoplasm MONDO:0037735 sebaceous gland cancer MONDO:0006963 NCIT:C8409 NCIT:C3363 sebaceous gland neoplasm MONDO:0037736 infratentorial neoplasm MONDO:0021211 NCIT:C3139 NCIT:C2907 brain neoplasm MONDO:0037737 peritoneal solitary fibrous tumor MONDO:0006901 NCIT:C126357 NCIT:C3322 peritoneal neoplasm MONDO:0037737 peritoneal solitary fibrous tumor MONDO:0016238 NCIT:C126357 NCIT:C7634 solitary fibrous tumor MONDO:0037740 malignant central nervous system mesenchymal, non-meningothelial neoplasm MONDO:0002714 NCIT:C6758 NCIT:C4627 central nervous system cancer MONDO:0037740 malignant central nervous system mesenchymal, non-meningothelial neoplasm MONDO:0003244 NCIT:C6758 NCIT:C5449 central nervous system mesenchymal non-meningothelial tumor MONDO:0037740 malignant central nervous system mesenchymal, non-meningothelial neoplasm MONDO:0024637 NCIT:C6758 NCIT:C4867 malignant soft tissue neoplasm MONDO:0037743 mediastinal soft tissue cancer MONDO:0003512 NCIT:C6642 NCIT:C6637 mediastinal mesenchymal tumor MONDO:0037743 mediastinal soft tissue cancer MONDO:0005843 NCIT:C6642 NCIT:C3549 mediastinal cancer MONDO:0037743 mediastinal soft tissue cancer MONDO:0024637 NCIT:C6642 NCIT:C4867 malignant soft tissue neoplasm MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm MONDO:0001402 NCIT:C40276 NCIT:C7410 vaginal cancer MONDO:0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm MONDO:0005853 NCIT:C40276 NCIT:C3729 malignant mixed neoplasm MONDO:0040673 malignant peritoneal germ cell tumor MONDO:0002087 NCIT:C136410 NCIT:C3538 peritoneum cancer MONDO:0040673 malignant peritoneal germ cell tumor MONDO:0003113 NCIT:C136410 NCIT:C8881 extragonadal germ cell cancer MONDO:0040677 invasive carcinoma MONDO:0004993 NCIT:C9480 NCIT:C2916 carcinoma MONDO:0040678 infiltrating urothelial carcinoma MONDO:0040677 NCIT:C39853 NCIT:C9480 invasive carcinoma MONDO:0040679 urothelial carcinoma MONDO:0006474 NCIT:C4030 NCIT:C2930 transitional cell carcinoma MONDO:0040679 urothelial carcinoma MONDO:0024337 NCIT:C4030 NCIT:C39852 urothelial neoplasm MONDO:0042491 cervical squamous intraepithelial neoplasia MONDO:0022394 NCIT:C7346 NCIT:C3782 cervical intraepithelial neoplasia MONDO:0042491 cervical squamous intraepithelial neoplasia MONDO:0024475 NCIT:C7346 NCIT:C8334 squamous cell intraepithelial neoplasia MONDO:0042493 gastric non-hodgkin lymphoma MONDO:0001059 NCIT:C27235 NCIT:C4636 gastric lymphoma MONDO:0042494 childhood malignant melanoma MONDO:0005105 NCIT:C131506 NCIT:C3224 melanoma MONDO:0044335 benign soft tissue neoplasm MONDO:0000654 NCIT:C4242 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0044335 benign soft tissue neoplasm MONDO:0006424 NCIT:C4242 NCIT:C3377 soft tissue neoplasm MONDO:0044336 colorectal signet ring cell carcinoma MONDO:0005092 NCIT:C43586 NCIT:C3774 signet ring cell carcinoma MONDO:0044337 stromal sarcoma MONDO:0018078 NCIT:C6926 NCIT:C9306 soft tissue sarcoma MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0000536 NCIT:C4043 NCIT:C102872 pharyngeal squamous cell carcinoma MONDO:0044638 hypopharynx squamous cell carcinoma MONDO:0005216 NCIT:C4043 NCIT:C9465 hypopharyngeal carcinoma MONDO:0044704 oropharynx squamous cell carcinoma MONDO:0000536 NCIT:C8181 NCIT:C102872 pharyngeal squamous cell carcinoma MONDO:0044704 oropharynx squamous cell carcinoma MONDO:0044926 NCIT:C8181 NCIT:C9105 oropharyngeal carcinoma MONDO:0044705 paranasal sinus squamous cell carcinoma MONDO:0000380 NCIT:C8193 NCIT:C6014 paranasal sinus carcinoma MONDO:0044710 lip and oral cavity squamous cell carcinoma MONDO:0010150 NCIT:C42690 NCIT:C34447 head and neck squamous cell carcinoma MONDO:0044710 lip and oral cavity squamous cell carcinoma MONDO:0023644 NCIT:C42690 NCIT:C9315 lip and oral cavity carcinoma MONDO:0044727 pancreatic carcinoma with mixed differentiation MONDO:0005192 NCIT:C45843 NCIT:C3850 exocrine pancreatic carcinoma MONDO:0044727 pancreatic carcinoma with mixed differentiation MONDO:0006182 NCIT:C45843 NCIT:C95406 digestive system mixed adenoneuroendocrine carcinoma MONDO:0044740 salivary gland squamous cell carcinoma MONDO:0000521 NCIT:C7991 NCIT:C9272 salivary gland carcinoma MONDO:0044743 major salivary gland cancer MONDO:0004669 NCIT:C4762 NCIT:C3811 salivary gland cancer MONDO:0044743 major salivary gland cancer MONDO:0021368 NCIT:C4762 NCIT:C4407 neoplasm of major salivary gland MONDO:0044764 benign choroid plexus neoplasm MONDO:0016717 NCIT:C8405 NCIT:C3473 choroid plexus neoplasm MONDO:0044764 benign choroid plexus neoplasm MONDO:0021451 NCIT:C8405 NCIT:C4781 benign neoplasm of brain MONDO:0044767 childhood adrenal gland pheochromocytoma MONDO:0004974 NCIT:C118822 NCIT:C3326 adrenal gland pheochromocytoma MONDO:0044768 vagus nerve paraganglioma MONDO:0001608 NCIT:C8427 NCIT:C5831 vagus nerve neoplasm MONDO:0044768 vagus nerve paraganglioma MONDO:0006239 NCIT:C8427 NCIT:C5327 head and neck paraganglioma MONDO:0044783 solid papillary breast carcinoma MONDO:0003532 NCIT:C6870 NCIT:C9134 breast papillary carcinoma MONDO:0044785 desmoplastic melanoma MONDO:0006427 NCIT:C37257 NCIT:C4237 spindle cell melanoma MONDO:0044786 solid pseudopapillary neoplasm of the pancreas MONDO:0002116 NCIT:C37212 NCIT:C7430 malignant exocrine pancreas neoplasm MONDO:0044787 nasal cavity and paranasal sinus squamous cell carcinoma MONDO:0010150 NCIT:C68611 NCIT:C34447 head and neck squamous cell carcinoma MONDO:0044787 nasal cavity and paranasal sinus squamous cell carcinoma MONDO:0056819 NCIT:C68611 NCIT:C54293 nasal cavity and paranasal sinus carcinoma MONDO:0044788 perihilar intrahepatic cholangiocarcinoma MONDO:0003210 NCIT:C96804 NCIT:C35417 intrahepatic cholangiocarcinoma MONDO:0044789 digital papillary eccrine carcinoma MONDO:0003531 NCIT:C27534 NCIT:C27254 papillary eccrine carcinoma MONDO:0044793 spitz nevus MONDO:0044794 NCIT:C27007 NCIT:C7571 benign melanocytic skin nevus MONDO:0044794 benign melanocytic skin nevus MONDO:0005073 NCIT:C7571 NCIT:C7570 melanocytic nevus MONDO:0044795 epithelioid cell nevus MONDO:0044793 NCIT:C66757 NCIT:C27007 spitz nevus MONDO:0044796 spindle cell nevus MONDO:0044793 NCIT:C66758 NCIT:C27007 spitz nevus MONDO:0044797 desmoplastic nevus MONDO:0044794 NCIT:C4497 NCIT:C7571 benign melanocytic skin nevus MONDO:0044800 desmoplastic spitz nevus MONDO:0044793 NCIT:C82864 NCIT:C27007 spitz nevus MONDO:0044800 desmoplastic spitz nevus MONDO:0044797 NCIT:C82864 NCIT:C4497 desmoplastic nevus MONDO:0044873 childhood myelodysplastic syndrome MONDO:0018881 NCIT:C68744 NCIT:C3247 myelodysplastic syndrome MONDO:0044878 adult germ cell tumor MONDO:0005040 NCIT:C114777 NCIT:C3708 germ cell tumor MONDO:0044879 pancreatic mucinous-cystic neoplasm MONDO:0024338 NCIT:C41247 NCIT:C7070 mucinous neoplasm MONDO:0044879 pancreatic mucinous-cystic neoplasm MONDO:0044880 NCIT:C41247 NCIT:C200227 cystic tumor of the pancreas MONDO:0044880 cystic tumor of the pancreas MONDO:0021076 NCIT:C200227 NCIT:C4445 pancreatic exocrine neoplasm MONDO:0044881 hematopoietic and lymphoid cell neoplasm MONDO:0002334 NCIT:C27134 NCIT:C35813 hematopoietic and lymphoid system neoplasm MONDO:0044884 tonsillar lymphoma MONDO:0006998 NCIT:C5918 NCIT:C7404 tonsil cancer MONDO:0044885 tonsillar lipoma MONDO:0005106 NCIT:C5989 NCIT:C3192 lipoma MONDO:0044885 tonsillar lipoma MONDO:0021513 NCIT:C5989 NCIT:C3594 benign neoplasm of tonsil MONDO:0044887 central nervous system non-hodgkin lymphoma MONDO:0002571 NCIT:C114779 NCIT:C9301 primary central nervous system lymphoma MONDO:0044889 high grade B-cell lymphoma MONDO:0018905 NCIT:C138211 NCIT:C8851 diffuse large B-cell lymphoma MONDO:0044906 bladder urothelial papilloma MONDO:0000384 NCIT:C39858 NCIT:C3618 bladder benign neoplasm MONDO:0044906 bladder urothelial papilloma MONDO:0003822 NCIT:C39858 NCIT:C39831 non-invasive bladder papillary urothelial neoplasm MONDO:0044906 bladder urothelial papilloma MONDO:0004041 NCIT:C39858 NCIT:C3842 urothelial papilloma MONDO:0044907 metastatic squamous cell carcinoma MONDO:0005096 NCIT:C4104 NCIT:C2929 squamous cell carcinoma MONDO:0044907 metastatic squamous cell carcinoma MONDO:0024879 NCIT:C4104 NCIT:C3482 metastatic carcinoma MONDO:0044912 metastatic malignant neoplasm in the spinal cord MONDO:0003544 NCIT:C4585 NCIT:C3572 spinal cord cancer MONDO:0044913 metastatic malignant neoplasm in the eye MONDO:0002236 NCIT:C4586 NCIT:C4767 ocular cancer MONDO:0044913 metastatic malignant neoplasm in the eye MONDO:0024880 NCIT:C4586 NCIT:C36263 metastatic malignant neoplasm MONDO:0044915 salivary duct carcinoma MONDO:0006176 NCIT:C5904 NCIT:C3680 cribriform carcinoma MONDO:0044916 extrarenal rhabdoid tumor MONDO:0002728 NCIT:C6586 NCIT:C3808 rhabdoid tumor MONDO:0044916 extrarenal rhabdoid tumor MONDO:0006517 NCIT:C6586 NCIT:C4005 childhood malignant neoplasm MONDO:0044917 T-lymphoblastic lymphoma MONDO:0000873 NCIT:C6919 NCIT:C9360 lymphoblastic lymphoma MONDO:0044917 T-lymphoblastic lymphoma MONDO:0003537 NCIT:C6919 NCIT:C8694 precursor T-lymphoblastic lymphoma/leukemia MONDO:0044919 malignant renal pelvis neoplasm MONDO:0002367 NCIT:C7525 NCIT:C7548 kidney cancer MONDO:0044919 malignant renal pelvis neoplasm MONDO:0003719 NCIT:C7525 NCIT:C8404 renal pelvis neoplasm MONDO:0044925 oral cavity carcinoma MONDO:0005515 NCIT:C8990 NCIT:C9314 oral cavity cancer MONDO:0044925 oral cavity carcinoma MONDO:0023644 NCIT:C8990 NCIT:C9315 lip and oral cavity carcinoma MONDO:0044926 oropharyngeal carcinoma MONDO:0004608 NCIT:C9105 NCIT:C7398 oropharynx cancer MONDO:0044926 oropharyngeal carcinoma MONDO:0021345 NCIT:C9105 NCIT:C9466 carcinoma of pharynx MONDO:0044937 rectal carcinoma MONDO:0006519 NCIT:C9382 NCIT:C7418 rectal cancer MONDO:0044937 rectal carcinoma MONDO:0024331 NCIT:C9382 NCIT:C2955 colorectal carcinoma MONDO:0044956 paranasal sinus mucoepidermoid carcinoma MONDO:0000380 NCIT:C6018 NCIT:C6014 paranasal sinus carcinoma MONDO:0044956 paranasal sinus mucoepidermoid carcinoma MONDO:0003036 NCIT:C6018 NCIT:C3772 mucoepidermoid carcinoma MONDO:0044964 oral cavity mucoepidermoid carcinoma MONDO:0003036 NCIT:C8177 NCIT:C3772 mucoepidermoid carcinoma MONDO:0044964 oral cavity mucoepidermoid carcinoma MONDO:0044925 NCIT:C8177 NCIT:C8990 oral cavity carcinoma MONDO:0044983 benign lipomatous neoplasm MONDO:0000654 NCIT:C4502 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0044983 benign lipomatous neoplasm MONDO:0021354 NCIT:C4502 NCIT:C4248 tumor of adipose tissue MONDO:0045052 benign osteogenic neoplasm MONDO:0000654 NCIT:C6602 NCIT:C53684 benign connective and soft tissue neoplasm MONDO:0045052 benign osteogenic neoplasm MONDO:0045053 NCIT:C6602 NCIT:C6603 osteogenic neoplasm MONDO:0045053 osteogenic neoplasm MONDO:0002616 NCIT:C6603 NCIT:C7059 mesenchymal cell neoplasm MONDO:0045055 glycogen-rich carcinoma MONDO:0004993 NCIT:C4153 NCIT:C2916 carcinoma MONDO:0045056 grade II meningioma MONDO:0016642 NCIT:C38937 NCIT:C3230 meningioma MONDO:0045060 intraductal cribriform breast adenocarcinoma MONDO:0005023 NCIT:C5138 NCIT:C2924 ductal breast carcinoma in situ MONDO:0045063 major salivary gland adenoid cystic carcinoma MONDO:0003175 NCIT:C5905 NCIT:C8026 salivary gland adenoid cystic carcinoma MONDO:0045063 major salivary gland adenoid cystic carcinoma MONDO:0006284 NCIT:C5905 NCIT:C5907 major salivary gland carcinoma MONDO:0045068 minor salivary gland adenoid cystic carcinoma MONDO:0003175 NCIT:C5936 NCIT:C8026 salivary gland adenoid cystic carcinoma MONDO:0045069 minor salivary gland carcinoma MONDO:0000521 NCIT:C5957 NCIT:C9272 salivary gland carcinoma MONDO:0045069 minor salivary gland carcinoma MONDO:0021316 NCIT:C5957 NCIT:C4410 malignant tumor of minor salivary gland MONDO:0045070 digestive system melanoma MONDO:0002516 NCIT:C7091 NCIT:C4890 digestive system cancer MONDO:0045071 mycosis fungoides variant MONDO:0000607 NCIT:C39644 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0056805 benign peripheral nerve granular cell tumor MONDO:0003250 NCIT:C5502 NCIT:C3252 benign granular cell tumor MONDO:0056806 non-small cell squamous lung carcinoma MONDO:0005097 NCIT:C133254 NCIT:C3493 squamous cell lung carcinoma MONDO:0056806 non-small cell squamous lung carcinoma MONDO:0005233 NCIT:C133254 NCIT:C2926 non-small cell lung carcinoma MONDO:0056814 hormone-resistant prostate carcinoma MONDO:0005159 NCIT:C114933 NCIT:C4863 prostate carcinoma MONDO:0056815 liver adenosquamous carcinoma MONDO:0006074 NCIT:C118630 NCIT:C3727 adenosquamous carcinoma MONDO:0056816 vulvar neuroendocrine carcinoma MONDO:0005215 NCIT:C128243 NCIT:C4866 vulvar carcinoma MONDO:0056817 rectal adenosquamous carcinoma MONDO:0006157 NCIT:C43594 NCIT:C43589 colorectal adenosquamous carcinoma MONDO:0056818 skin adenosquamous carcinoma MONDO:0006074 NCIT:C54250 NCIT:C3727 adenosquamous carcinoma MONDO:0056819 nasal cavity and paranasal sinus carcinoma MONDO:0002038 NCIT:C54293 NCIT:C35850 head and neck carcinoma MONDO:0056820 nasal cavity and paranasal sinus neoplasm MONDO:0005586 NCIT:C7336 NCIT:C3077 head and neck neoplasm MONDO:0100055 intraosseous spindle cell rhabdomyosarcoma with TFCP2/NCOA2 rearrangements MONDO:0002581 NCIT:C178236 NCIT:C6519 spindle cell rhabdomyosarcoma MONDO:0100060 congenital/infantile spindle cell rhabdomyosarcoma with VGLL2/NCOA2/CITED2 rearrangements MONDO:0002581 NCIT:C178232 NCIT:C6519 spindle cell rhabdomyosarcoma MONDO:0100067 childhood spindle cell rhabdomyosarcoma MONDO:0002581 NCIT:C123397 NCIT:C6519 spindle cell rhabdomyosarcoma MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0000432 NCIT:C80307 NCIT:C3212 lymphoplasmacytic lymphoma MONDO:0100290 colon serrated polyposis MONDO:0015524 NCIT:C96470 NCIT:C165469 hyperplastic polyposis syndrome MONDO:0100290 colon serrated polyposis MONDO:0021400 NCIT:C96470 NCIT:C2954 polyp of colon MONDO:0100291 early T cell progenitor acute lymphoblastic leukemia MONDO:0004963 NCIT:C130043 NCIT:C3183 T-cell acute lymphoblastic leukemia MONDO:0100342 malignant glioma MONDO:0002714 NCIT:C4822 NCIT:C4627 central nervous system cancer MONDO:0100342 malignant glioma MONDO:0021042 NCIT:C4822 NCIT:C3059 glioma MONDO:0100409 acute myeloid leukemia, t(3;5)(q25;q34) MONDO:0018874 NCIT:C7600 NCIT:C3171 acute myeloid leukemia MONDO:0100514 familial ovarian carcinoma MONDO:0005140 NCIT:C36102 NCIT:C4908 ovarian carcinoma MONDO:0100534 SMARCB1-deficient kidney medullary carcinoma MONDO:0006260 NCIT:C189247 NCIT:C7572 kidney medullary carcinoma MONDO:0700135 bovine leukemia MONDO:0700134 NCIT:C131469 NCIT:C134527 bovine neoplasm MONDO:0700136 bovine protoporphyria MONDO:0700134 NCIT:C131472 NCIT:C134527 bovine neoplasm MONDO:0700137 bovine lymphosarcoma MONDO:0700134 NCIT:C134767 NCIT:C134527 bovine neoplasm MONDO:0700138 bovine rectal myxoma MONDO:0700134 NCIT:C134768 NCIT:C134527 bovine neoplasm MONDO:0700141 canine melanoma MONDO:0700139 NCIT:C120298 NCIT:C134526 canine neoplasm MONDO:0700144 canine leukemia MONDO:0700139 NCIT:C128120 NCIT:C134526 canine neoplasm MONDO:0700145 canine lymphoma MONDO:0700139 NCIT:C128121 NCIT:C134526 canine neoplasm MONDO:0700147 canine histiocytic sarcoma MONDO:0700139 NCIT:C128125 NCIT:C134526 canine neoplasm MONDO:0700151 canine glioma MONDO:0700139 NCIT:C129297 NCIT:C134526 canine neoplasm MONDO:0700159 canine acanthomatous epulis MONDO:0700139 NCIT:C134956 NCIT:C134526 canine neoplasm MONDO:0700160 canine mammary adenoma MONDO:0700139 NCIT:C147073 NCIT:C134526 canine neoplasm MONDO:0700161 canine gastrointestinal stromal tumor MONDO:0700139 NCIT:C158783 NCIT:C134526 canine neoplasm MONDO:0700163 canine Langerhans cell histiocytosis MONDO:0700139 NCIT:C158785 NCIT:C134526 canine neoplasm MONDO:0700164 canine nephroblastoma MONDO:0700139 NCIT:C158786 NCIT:C134526 canine neoplasm MONDO:0700166 canine transmissible venereal tumor MONDO:0700139 NCIT:C162473 NCIT:C134526 canine neoplasm MONDO:0700167 canine sebaceous gland epithelioma MONDO:0700139 NCIT:C176701 NCIT:C134526 canine neoplasm MONDO:0700168 canine oral melanoma MONDO:0700141 NCIT:C185639 NCIT:C120298 canine melanoma MONDO:0700169 canine cutaneous t-cell lymphoma MONDO:0700145 NCIT:C186279 NCIT:C128121 canine lymphoma MONDO:0700191 chicken fibrosarcoma MONDO:0700189 NCIT:C134557 NCIT:C135005 chicken neoplasm MONDO:0700192 chicken hepatoma MONDO:0700189 NCIT:C134558 NCIT:C135005 chicken neoplasm MONDO:0700193 chicken monocytic leukemia MONDO:0700189 NCIT:C134945 NCIT:C135005 chicken neoplasm MONDO:0700194 chicken lymphoma MONDO:0700189 NCIT:C135004 NCIT:C135005 chicken neoplasm MONDO:0850101 spitzoid melanoma MONDO:0005012 NCIT:C165497 NCIT:C3510 cutaneous melanoma MONDO:0850110 melanoma in congenital melanocytic nevus MONDO:0005012 NCIT:C48613 NCIT:C3510 cutaneous melanoma MONDO:0850144 germ cell benign neoplasm MONDO:0005040 NCIT:C6449 NCIT:C3708 germ cell tumor MONDO:0850144 germ cell benign neoplasm MONDO:0005165 NCIT:C6449 NCIT:C3677 benign neoplasm MONDO:0850154 tongue carcinoma MONDO:0004631 NCIT:C4824 NCIT:C9345 tongue cancer MONDO:0850154 tongue carcinoma MONDO:0044925 NCIT:C4824 NCIT:C8990 oral cavity carcinoma MONDO:0850267 childhood acute megakaryoblastic leukemia MONDO:0018872 NCIT:C7972 NCIT:C3170 acute megakaryoblastic leukemia MONDO:0850273 salivary gland mucinous adenocarcinoma MONDO:0004957 NCIT:C62193 NCIT:C26712 mucinous adenocarcinoma MONDO:0850333 IDH-wildtype anaplastic astrocytoma MONDO:0016684 NCIT:C129291 NCIT:C9477 anaplastic astrocytoma MONDO:0850335 IDH-wildtype glioblastoma MONDO:0018177 NCIT:C39750 NCIT:C3058 glioblastoma MONDO:0850345 lung pleomorphic carcinoma MONDO:0003573 NCIT:C45542 NCIT:C4094 pleomorphic carcinoma MONDO:0850345 lung pleomorphic carcinoma MONDO:0006279 NCIT:C45542 NCIT:C45540 lung sarcomatoid carcinoma MONDO:0850459 primary cutaneous gamma-delta t-cell lymphoma MONDO:0000607 NCIT:C45340 NCIT:C3467 primary cutaneous T-cell non-Hodgkin lymphoma MONDO:0851100 malignant olfactory nerve neoplasm MONDO:0002433 NCIT:C4768 NCIT:C3571 malignant cranial nerve neoplasm MONDO:0858916 pituitary blastoma MONDO:0002109 NCIT:C155304 NCIT:C4769 pituitary cancer MONDO:0858916 pituitary blastoma MONDO:0005565 NCIT:C155304 NCIT:C8997 blastoma MONDO:0858917 cauda equina neuroendocrine tumor MONDO:0003164 NCIT:C5324 NCIT:C5479 cauda equina neoplasm MONDO:0858921 EWSR1-negative small round cell tumor MONDO:0006974 NCIT:C165671 NCIT:C3746 small cell sarcoma MONDO:0858958 high-grade astrocytoma with piloid features MONDO:0016684 NCIT:C185879 NCIT:C9477 anaplastic astrocytoma MONDO:0858960 spindle cell oncocytoma MONDO:0003257 NCIT:C94537 NCIT:C7157 posterior pituitary gland neoplasm MONDO:0858967 primary intracranial sarcoma, DICER1-mutant MONDO:0002216 NCIT:C186610 NCIT:C5154 brain sarcoma MONDO:0859591 childhood low-grade glioma MONDO:0021637 NCIT:C202299 NCIT:C132067 low grade glioma MONDO:0859597 cns neuroblastoma with FOXR2 activation MONDO:0002900 NCIT:C186547 NCIT:C4826 cerebral neuroblastoma MONDO:0859598 erythroleukemia MONDO:0017858 NCIT:C7152 NCIT:C8923 acute erythroid leukemia MONDO:0859614 diffuse low-grade glioma, MAPK pathway–altered MONDO:0021637 NCIT:C185218 NCIT:C132067 low grade glioma MONDO:0859747 grade I lymphomatoid granulomatosis MONDO:0019466 NCIT:C7931 NCIT:C7930 lymphomatoid granulomatosis MONDO:0859748 grade II lymphomatoid granulomatosis MONDO:0019466 NCIT:C7932 NCIT:C7930 lymphomatoid granulomatosis MONDO:0859749 grade III lymphomatoid granulomatosis MONDO:0019466 NCIT:C7933 NCIT:C7930 lymphomatoid granulomatosis MONDO:0956962 benign teratoma MONDO:0850144 NCIT:C67107 NCIT:C6449 germ cell benign neoplasm MONDO:0956964 medulloblastoma SHH activated and TP53 mutant MONDO:0850197 NCIT:C129442 NCIT:C129441 medulloblastoma SHH activated MONDO:0956965 medulloblastoma SHH activated and TP53 wild-type MONDO:0850197 NCIT:C129443 NCIT:C129441 medulloblastoma SHH activated MONDO:0956966 medulloblastoma non-WNT/non-SHH group 3 MONDO:0850198 NCIT:C129445 NCIT:C129444 medulloblastoma non-WNT/non-SHH MONDO:0956967 medulloblastoma non-WNT/non-SHH group 4 MONDO:0850198 NCIT:C129446 NCIT:C129444 medulloblastoma non-WNT/non-SHH MONDO:0956989 CIC-rearranged sarcoma MONDO:0858921 NCIT:C120224 NCIT:C165671 EWSR1-negative small round cell tumor MONDO:0958159 sarcoma with BCOR genetic alterations MONDO:0006974 NCIT:C178465 NCIT:C3746 small cell sarcoma MONDO:0958160 round cell sarcoma with EWSR1-non-ETS fusion MONDO:0006974 NCIT:C178459 NCIT:C3746 small cell sarcoma MONDO:0958164 poorly differentiated chordoma MONDO:0008978 NCIT:C177898 NCIT:C2947 chordoma MONDO:0958165 anaplastic sarcoma of the kidney MONDO:0002930 NCIT:C154496 NCIT:C4525 kidney sarcoma MONDO:1010030 pediatric high-grade glioma MONDO:0100342 NCIT:C202298 NCIT:C4822 malignant glioma MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism 1 MONDO:0800450 OMIM:616033 OMIMPS:616033 microcephaly, short stature, and impaired glucose metabolism MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 MONDO:0016342 OMIM:615616 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0000910 retinitis pigmentosa 6 MONDO:0019200 OMIM:312612 OMIMPS:268000 retinitis pigmentosa MONDO:0000912 autosomal recessive nonsyndromic hearing loss 5 MONDO:0019588 OMIM:600792 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 MONDO:0007432 OMIM:125310 OMIMPS:125310 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:0007044 Acrodysostosis 1 with or without hormone resistance MONDO:0019797 OMIM:101800 OMIMPS:101800 acrodysostosis MONDO:0007052 growth hormone secreting pituitary adenoma 1 MONDO:0017824 OMIM:102200 OMIMPS:102200 familial isolated pituitary adenoma MONDO:0007053 restless legs syndrome, susceptibility to, 1 MONDO:0100170 OMIM:102300 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0007060 spermatogenic failure 6 MONDO:0004983 OMIM:102530 OMIMPS:258150 spermatogenic failure MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0031520 OMIM:102700 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0016525 OMIM:103900 OMIMPS:103900 familial hyperaldosteronism MONDO:0007082 alopecia areata 1 MONDO:0000005 OMIM:104000 OMIMPS:203655 alopecia, isolated MONDO:0007084 familial focal alopecia MONDO:0000005 OMIM:104110 OMIMPS:203655 alopecia, isolated MONDO:0007086 autosomal dominant Alport syndrome MONDO:0018965 OMIM:104200 OMIMPS:301050 Alport syndrome MONDO:0007087 alternating hemiplegia of childhood 1 MONDO:0016241 OMIM:104290 OMIMPS:104290 alternating hemiplegia of childhood MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MONDO:0019507 OMIM:104510 OMIMPS:104500 amelogenesis imperfecta MONDO:0007103 amyotrophic lateral sclerosis type 1 MONDO:0005144 OMIM:105400 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0005144 OMIM:105550 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0017161 OMIM:105550 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0007109 congenital dyserythropoietic anemia type 3 MONDO:0019403 OMIM:105600 OMIMPS:224120 congenital dyserythropoietic anemia MONDO:0007110 Diamond-Blackfan anemia 1 MONDO:0015253 OMIM:105650 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0007111 aneurysm, intracranial berry type 1 MONDO:0016483 OMIM:105800 OMIMPS:105800 intracranial berry aneurysm MONDO:0007126 spondyloarthropathy, susceptibility to, 1 MONDO:0024512 OMIM:106300 OMIMPS:106300 spondyloarthropathy, susceptibility to MONDO:0007129 tooth agenesis, selective, 1 MONDO:0005486 OMIM:106600 OMIMPS:106600 tooth agenesis MONDO:0007138 anterior segment dysgenesis 1 MONDO:0019503 OMIM:107250 OMIMPS:107250 anterior segment dysgenesis MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 MONDO:0016342 OMIM:107970 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO:0019942 OMIM:108145 OMIMPS:108120 distal arthrogryposis MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:0019942 OMIM:108200 OMIMPS:108120 distal arthrogryposis MONDO:0007160 Stickler syndrome type 1 MONDO:0019354 OMIM:108300 OMIMPS:108300 Stickler syndrome MONDO:0007161 spermatogenic failure 2 MONDO:0004983 OMIM:108420 OMIMPS:258150 spermatogenic failure MONDO:0007163 episodic ataxia type 2 MONDO:0016227 OMIM:108500 OMIMPS:160120 hereditary episodic ataxia MONDO:0007167 atelosteogenesis type I MONDO:0000389 OMIM:108720 OMIMPS:108720 atelosteogenesis MONDO:0007168 atelosteogenesis type III MONDO:0000389 OMIM:108721 OMIMPS:108720 atelosteogenesis MONDO:0007172 atrial septal defect 1 MONDO:0006664 OMIM:108800 OMIMPS:108800 atrial septal defect MONDO:0007173 atrial septal defect 7 MONDO:0006664 OMIM:108900 OMIMPS:108800 atrial septal defect MONDO:0007184 alopecia, androgenetic, 1 MONDO:0000005 OMIM:109200 OMIMPS:203655 alopecia, isolated MONDO:0007193 primary biliary cholangitis 1 MONDO:0005388 OMIM:109720 OMIMPS:109720 primary biliary cholangitis MONDO:0007204 Cole-Carpenter syndrome 1 MONDO:0016085 OMIM:112240 OMIMPS:112240 Cole-Carpenter syndrome MONDO:0007219 Osebold-Remondini syndrome MONDO:0019696 OMIM:112910 OMIMPS:602875 acromesomelic dysplasia MONDO:0007236 branchiootorenal syndrome 1 MONDO:0007029 OMIM:113650 OMIMPS:113650 branchio-oto-renal syndrome MONDO:0007240 progressive familial heart block, type 1A MONDO:0019490 OMIM:113900 OMIMPS:113900 progressive familial heart block MONDO:0007252 Gordon syndrome MONDO:0019942 OMIM:114300 OMIMPS:108120 distal arthrogryposis MONDO:0007257 candidiasis, familial, 1 MONDO:0015279 OMIM:114580 OMIMPS:114580 chronic mucocutaneous candidiasis MONDO:0007265 cardiofaciocutaneous syndrome 1 MONDO:0015280 OMIM:115150 OMIMPS:115150 cardiofaciocutaneous syndrome MONDO:0007266 hypertrophic cardiomyopathy 2 MONDO:0024573 OMIM:115195 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0007267 hypertrophic cardiomyopathy 3 MONDO:0024573 OMIM:115196 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0007268 hypertrophic cardiomyopathy 4 MONDO:0024573 OMIM:115197 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0007270 cardiomyopathy, familial restrictive, 1 MONDO:0016340 OMIM:115210 OMIMPS:115210 familial restrictive cardiomyopathy MONDO:0007273 paragangliomas 4 MONDO:0000448 OMIM:115310 OMIMPS:168000 paraganglioma MONDO:0007281 cataract 4 multiple types MONDO:0005129 OMIM:115700 OMIMPS:116200 cataract MONDO:0007282 cataract 29 MONDO:0005129 OMIM:115800 OMIMPS:116200 cataract MONDO:0007285 cataract 1 multiple types MONDO:0005129 OMIM:116200 OMIMPS:116200 cataract MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant MONDO:0001029 OMIM:118100 OMIMPS:118100 Klippel-Feil syndrome MONDO:0007335 orofacial cleft 1 MONDO:0000358 OMIM:119530 OMIMPS:119530 orofacial cleft MONDO:0007349 familial cold autoinflammatory syndrome 1 MONDO:0018768 OMIM:120100 OMIMPS:120100 familial cold autoinflammatory syndrome MONDO:0007356 Lynch syndrome 1 MONDO:0018630 OMIM:120435 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0007360 branchiootic syndrome 2 MONDO:0018878 OMIM:120502 OMIMPS:602588 branchiootic syndrome MONDO:0007362 cone-rod dystrophy 2 MONDO:0015993 OMIM:120970 OMIMPS:120970 cone-rod dystrophy MONDO:0007363 congenital contractural arachnodactyly MONDO:0019942 OMIM:121050 OMIMPS:108120 distal arthrogryposis MONDO:0007365 seizures, benign familial neonatal, 1 MONDO:0016027 OMIM:121200 OMIMPS:121200 benign neonatal seizures MONDO:0007366 seizures, benign familial neonatal, 2 MONDO:0016027 OMIM:121201 OMIMPS:121200 benign neonatal seizures MONDO:0007367 febrile seizures, familial, 1 MONDO:0000032 OMIM:121210 OMIMPS:121210 febrile seizures, familial MONDO:0007372 cornea plana 1, autosomal dominant MONDO:0000733 OMIM:121400 OMIMPS:121400 cornea plana MONDO:0007378 posterior polymorphous corneal dystrophy 1 MONDO:0020364 OMIM:122000 OMIMPS:122000 posterior polymorphous corneal dystrophy MONDO:0007387 Cornelia de Lange syndrome 1 MONDO:0016033 OMIM:122470 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0007389 spondylocostal dysostosis 5 MONDO:0000359 OMIM:122600 OMIMPS:277300 spondylocostal dysostosis MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant MONDO:0015465 OMIM:123000 OMIMPS:123000 craniometaphyseal dysplasia MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 MONDO:0020811 OMIM:124000 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0007424 autosomal dominant nonsyndromic hearing loss 1 MONDO:0019587 OMIM:124900 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:0016516 OMIM:127000 OMIMPS:127000 Kenny-Caffey syndrome MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0000118 OMIM:127400 OMIMPS:179850 reticulate pigment disorder MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 MONDO:0015780 OMIM:127550 OMIMPS:127550 dyskeratosis congenita MONDO:0007510 Clouston syndrome MONDO:0019287 OMIM:129500 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0020066 OMIM:130020 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017169 OMIM:131100 OMIMPS:131100 multiple endocrine neoplasia MONDO:0007550 epidermolysis bullosa simplex 1A, generalized severe MONDO:0017610 OMIM:131760 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0007551 epidermolysis bullosa simplex 1C, localized MONDO:0017610 OMIM:131800 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate MONDO:0017610 OMIM:131900 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0007555 epidermolysis bullosa simplex 5A, Ogna type MONDO:0017610 OMIM:131950 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation MONDO:0017610 OMIM:131960 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0007559 photoparoxysmal response 1 MONDO:0015643 OMIM:132100 OMIMPS:132100 photosensitive epilepsy MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 OMIM:132400 OMIMPS:132400 multiple epiphyseal dysplasia MONDO:0007568 aortic aneurysm, familial thoracic 4 MONDO:0019625 OMIM:132900 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0001115 OMIM:133100 OMIMPS:133100 familial polycythemia MONDO:0007585 exostoses, multiple, type 1 MONDO:0005508 OMIM:133700 OMIMPS:133700 hereditary multiple osteochondromas MONDO:0007586 exostoses, multiple, type 2 MONDO:0005508 OMIM:133701 OMIMPS:133700 hereditary multiple osteochondromas MONDO:0007609 fibromatosis, gingival, 1 MONDO:0016070 OMIM:135300 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0015452 OMIM:135900 OMIMPS:135900 Coffin-Siris syndrome MONDO:0007627 focal facial dermal dysplasia type I MONDO:0018363 OMIM:136500 OMIMPS:136500 focal facial dermal dysplasia MONDO:0007628 foveal hypoplasia 1 MONDO:0044203 OMIM:136520 OMIMPS:136520 foveal hypoplasia MONDO:0007630 North Carolina macular dystrophy MONDO:0031166 OMIM:136550 OMIMPS:136550 macular dystrophy, retinal MONDO:0007636 frontorhiny MONDO:0016643 OMIM:136760 OMIMPS:136760 frontonasal dysplasia MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 MONDO:0005321 OMIM:136800 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0000334 OMIM:138800 OMIMPS:138800 multinodular goiter MONDO:0007686 gray platelet syndrome MONDO:0000009 OMIM:139090 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0007701 progressive familial heart block type II MONDO:0019490 OMIM:140400 OMIMPS:113900 progressive familial heart block MONDO:0007709 hematuria, benign familial, 1 MONDO:0957317 OMIM:141200 OMIMPS:141200 hematuria, benign familial MONDO:0007719 diaphragmatic hernia 1 MONDO:0005711 OMIM:142340 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0007728 acne inversa, familial, 1 MONDO:0024516 OMIM:142690 OMIMPS:142690 familial acne inversa MONDO:0007729 developmental dysplasia of the hip 1 MONDO:0000158 OMIM:142700 OMIMPS:142700 developmental dysplasia of the hip MONDO:0007733 holoprosencephaly 3 MONDO:0016296 OMIM:142945 OMIMPS:236100 holoprosencephaly MONDO:0007734 holoprosencephaly 4 MONDO:0016296 OMIM:142946 OMIMPS:236100 holoprosencephaly MONDO:0007745 Gilbert syndrome MONDO:0002408 OMIM:143500 OMIMPS:237450 hereditary hyperbilirubinemia MONDO:0007750 hypercholesterolemia, familial, 1 MONDO:0005439 OMIM:143890 OMIMPS:143890 familial hypercholesterolemia MONDO:0007751 hypercholesterolemia, autosomal dominant, type B MONDO:0005439 OMIM:144010 OMIMPS:143890 familial hypercholesterolemia MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 MONDO:0968949 OMIM:144200 OMIMPS:144200 palmoplantar keratoderma, epidermolytic MONDO:0007772 pseudohypoaldosteronism type 2A MONDO:0019162 OMIM:145260 OMIMPS:145260 pseudohypoaldosteronism type 2 MONDO:0007783 malignant hyperthermia, susceptibility to, 1 MONDO:0800188 OMIM:145600 OMIMPS:145600 malignant hyperthermia, susceptibility to MONDO:0007790 Charcot-Marie-Tooth disease type 3 MONDO:0015626 OMIM:145900 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0007791 familial hypocalciuric hypercalcemia 1 MONDO:0018458 OMIM:145980 OMIMPS:145980 familial hypocalciuric hypercalcemia MONDO:0007792 familial hypocalciuric hypercalcemia 2 MONDO:0018458 OMIM:145981 OMIMPS:145980 familial hypocalciuric hypercalcemia MONDO:0007796 hypoparathyroidism, familial isolated 1 MONDO:0016390 OMIM:146200 OMIMPS:146200 familial hypoparathyroidism MONDO:0007802 hypospadias 3, autosomal MONDO:0005345 OMIM:146450 OMIMPS:300633 hypospadias MONDO:0007805 hypotrichosis 2 MONDO:0003037 OMIM:146520 OMIMPS:605389 hypotrichosis MONDO:0007808 ichthyosis hystrix of Curth-Macklin MONDO:0859383 OMIM:146590 OMIMPS:146590 ichthyosis hystrix MONDO:0007809 ichthyosis histrix, Lambert type MONDO:0859383 OMIM:146600 OMIMPS:146590 ichthyosis hystrix MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0018037 OMIM:147060 OMIMPS:147060 hyper-IgE syndrome MONDO:0007843 Kabuki syndrome 1 MONDO:0016512 OMIM:147920 OMIMPS:147920 Kabuki syndrome MONDO:0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome MONDO:0018781 OMIM:148210 OMIMPS:148210 KID syndrome MONDO:0007851 keratoconus 1 MONDO:0015486 OMIM:148300 OMIMPS:148300 keratoconus MONDO:0007862 Waardenburg syndrome type 3 MONDO:0018094 OMIM:148820 OMIMPS:193500 Waardenburg syndrome MONDO:0007867 nonsyndromic congenital nail disorder 2 MONDO:0019284 OMIM:149300 OMIMPS:161050 inherited isolated nail anomaly MONDO:0007868 hyperekplexia 1 MONDO:0021022 OMIM:149400 OMIMPS:149400 hereditary hyperekplexia MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0017951 OMIM:150230 OMIMPS:190350 trichorhinophalangeal syndrome MONDO:0007881 tooth agenesis, selective, 4 MONDO:0005486 OMIM:150400 OMIMPS:106600 tooth agenesis MONDO:0007900 nonsyndromic congenital nail disorder 3 MONDO:0019284 OMIM:151600 OMIMPS:161050 inherited isolated nail anomaly MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0020088 OMIM:151660 OMIMPS:151660 familial partial lipodystrophy MONDO:0007919 lymphatic malformation 1 MONDO:0019313 OMIM:153100 OMIMPS:153100 lymphatic malformation MONDO:0007920 lymphatic malformation 5 MONDO:0019313 OMIM:153200 OMIMPS:153100 lymphatic malformation MONDO:0007931 vitelliform macular dystrophy 2 MONDO:0000390 OMIM:153700 OMIMPS:153840 vitelliform macular dystrophy MONDO:0007932 age related macular degeneration 2 MONDO:0005150 OMIM:153800 OMIMPS:603075 age-related macular degeneration MONDO:0007938 46,XY sex reversal 4 MONDO:0010765 OMIM:154230 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0007939 malignant hyperthermia, susceptibility to, 2 MONDO:0800188 OMIM:154275 OMIMPS:145600 malignant hyperthermia, susceptibility to MONDO:0007940 malignant hyperthermia, susceptibility to, 3 MONDO:0800188 OMIM:154276 OMIMPS:145600 malignant hyperthermia, susceptibility to MONDO:0007944 Treacher Collins syndrome 1 MONDO:0002457 OMIM:154500 OMIMPS:154500 Treacher-Collins syndrome MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 MONDO:0024462 OMIM:155600 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0007964 melanoma, cutaneous malignant, susceptibility to, 2 MONDO:0024462 OMIM:155601 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0007974 intellectual disability, autosomal dominant 1 MONDO:0100172 OMIM:156200 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0007987 Kniest dysplasia MONDO:0016763 OMIM:156550 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0007999 holoprosencephaly 2 MONDO:0016296 OMIM:157170 OMIMPS:236100 holoprosencephaly MONDO:0008000 migraine with or without aura, susceptibility to, 1 MONDO:0100246 OMIM:157300 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0008016 trismus-pseudocamptodactyly syndrome MONDO:0019942 OMIM:158300 OMIMPS:108120 distal arthrogryposis MONDO:0008021 Cowden syndrome 1 MONDO:0016063 OMIM:158350 OMIMPS:158350 Cowden disease MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO:0018190 OMIM:158600 OMIMPS:158600 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0008030 facioscapulohumeral muscular dystrophy 1 MONDO:0001347 OMIM:158900 OMIMPS:158900 facioscapulohumeral muscular dystrophy MONDO:0008031 facioscapulohumeral muscular dystrophy 2 MONDO:0001347 OMIM:158901 OMIMPS:158900 facioscapulohumeral muscular dystrophy MONDO:0008047 episodic ataxia type 1 MONDO:0016227 OMIM:160120 OMIMPS:160120 hereditary episodic ataxia MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0018947 OMIM:160150 OMIMPS:160150 centronuclear myopathy MONDO:0008050 MYH7-related skeletal myopathy MONDO:0018949 OMIM:160500 OMIMPS:160500 distal myopathy MONDO:0008053 myopia 2, autosomal dominant MONDO:0001384 OMIM:160700 OMIMPS:160700 myopia MONDO:0008056 myotonic dystrophy type 1 MONDO:0016107 OMIM:160900 OMIMPS:160900 myotonic dystrophy MONDO:0008060 nonsyndromic congenital nail disorder 1 MONDO:0019284 OMIM:161050 OMIMPS:161050 inherited isolated nail anomaly MONDO:0008062 narcolepsy 1 MONDO:0100554 OMIM:161400 OMIMPS:161400 hereditary narcolepsy MONDO:0008072 IgA nephropathy, susceptibility to, 1 MONDO:0100555 OMIM:161950 OMIMPS:161950 IgA nephropathy, susceptibility to MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 MONDO:0000608 OMIM:162000 OMIMPS:162000 familial juvenile hyperuricemic nephropathy MONDO:0008099 congenital stationary night blindness autosomal dominant 2 MONDO:0016293 OMIM:163500 OMIMPS:310500 congenital stationary night blindness MONDO:0008102 sick sinus syndrome 2, autosomal dominant MONDO:0012061 OMIM:163800 OMIMPS:608567 familial sick sinus syndrome MONDO:0008104 Noonan syndrome 1 MONDO:0018997 OMIM:163950 OMIMPS:163950 Noonan syndrome MONDO:0008106 nystagmus 2, congenital, autosomal dominant MONDO:0005712 OMIM:164100 OMIMPS:310700 congenital nystagmus MONDO:0008115 Feingold syndrome type 1 MONDO:0015267 OMIM:164280 OMIMPS:164280 Feingold syndrome MONDO:0008123 autosomal dominant omodysplasia MONDO:0017136 OMIM:164745 OMIMPS:258315 omodysplasia MONDO:0008125 nonsyndromic congenital nail disorder 5 MONDO:0019284 OMIM:164800 OMIMPS:161050 inherited isolated nail anomaly MONDO:0008135 optic atrophy 13 with retinal and foveal abnormalities MONDO:0043878 OMIM:165510 OMIMPS:165500 hereditary optic atrophy MONDO:0008137 orofaciodigital syndrome X MONDO:0015375 OMIM:165590 OMIMPS:311200 orofaciodigital syndrome MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:0020645 OMIM:166600 OMIMPS:607634 autosomal dominant osteopetrosis MONDO:0008164 otosclerosis 1 MONDO:0005349 OMIM:166800 OMIMPS:166800 otosclerosis MONDO:0008172 hypertrophic osteoarthropathy, primary, autosomal dominant MONDO:0016620 OMIM:167100 OMIMPS:259100 primary hypertrophic osteoarthropathy MONDO:0008173 pachyonychia congenita 1 MONDO:0016471 OMIM:167200 OMIMPS:167200 pachyonychia congenita MONDO:0008174 pachyonychia congenita 2 MONDO:0016471 OMIM:167210 OMIMPS:167200 pachyonychia congenita MONDO:0008176 Paget disease of bone 3 MONDO:0005382 OMIM:167250 OMIMPS:167250 bone Paget disease MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 MONDO:0000507 OMIM:167320 OMIMPS:167320 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0008187 panic disorder 1 MONDO:0031240 OMIM:167870 OMIMPS:167870 familial panic disorder MONDO:0008192 paragangliomas 1 MONDO:0000448 OMIM:168000 OMIMPS:168000 paraganglioma MONDO:0008197 parietal foramina 1 MONDO:0018953 OMIM:168500 OMIMPS:168500 parietal foramina MONDO:0008199 late-onset Parkinson disease MONDO:0005180 OMIM:168600 OMIMPS:168600 Parkinson disease MONDO:0008210 patterned macular dystrophy 1 MONDO:0020381 OMIM:169150 OMIMPS:169150 patterned macular dystrophy MONDO:0008222 Andersen-Tawil syndrome MONDO:0019171 OMIM:170390 OMIMPS:192500 familial long QT syndrome MONDO:0008250 isolated growth hormone deficiency type II MONDO:0000050 OMIM:173100 OMIMPS:262400 isolated congenital growth hormone deficiency MONDO:0008265 polycystic liver disease 1 MONDO:0000447 OMIM:174050 OMIMPS:174050 autosomal dominant polycystic liver disease MONDO:0008267 orofaciodigital syndrome V MONDO:0015375 OMIM:174300 OMIMPS:311200 orofaciodigital syndrome MONDO:0008269 polydactyly of a biphalangeal thumb MONDO:0017425 OMIM:174400 OMIMPS:174400 preaxial polydactyly of fingers MONDO:0008270 polydactyly of a triphalangeal thumb MONDO:0017425 OMIM:174500 OMIMPS:174400 preaxial polydactyly of fingers MONDO:0008271 polydactyly of an index finger MONDO:0017425 OMIM:174600 OMIMPS:174400 preaxial polydactyly of fingers MONDO:0008272 polysyndactyly 4 MONDO:0017425 OMIM:174700 OMIMPS:174400 preaxial polydactyly of fingers MONDO:0008289 brain small vessel disease 1 with or without ocular anomalies MONDO:0020496 OMIM:175780 OMIMPS:175780 familial porencephaly MONDO:0008291 porokeratosis plantaris palmaris et disseminata MONDO:0006602 OMIM:175850 OMIMPS:175800 porokeratosis MONDO:0008302 central precocious puberty 1 MONDO:0019165 OMIM:176400 OMIMPS:176400 central precocious puberty MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0020732 OMIM:176670 OMIMPS:176670 progeria MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 MONDO:0019161 OMIM:177735 OMIMPS:177735 pseudohypoaldosteronism type 1 MONDO:0008332 platelet-type von Willebrand disease MONDO:0000009 OMIM:177820 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:0020937 OMIM:178110 OMIMPS:178110 contractures, pterygia, and variable skeletal fusions syndrome MONDO:0008355 pyloric stenosis, infantile hypertrophic, 1 MONDO:0100239 OMIM:179010 OMIMPS:179010 inherited hypertrophic pyloric stenosis MONDO:0008368 autosomal dominant distal renal tubular acidosis MONDO:0015827 OMIM:179800 OMIMPS:179800 distal renal tubular acidosis MONDO:0008377 retinitis pigmentosa 1 MONDO:0019200 OMIM:180100 OMIMPS:268000 retinitis pigmentosa MONDO:0008378 retinitis pigmentosa 9 MONDO:0019200 OMIM:180104 OMIMPS:268000 retinitis pigmentosa MONDO:0008379 retinitis pigmentosa 10 MONDO:0019200 OMIM:180105 OMIMPS:268000 retinitis pigmentosa MONDO:0008386 Axenfeld-Rieger syndrome type 1 MONDO:0019187 OMIM:180500 OMIMPS:180500 Axenfeld-Rieger syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:0019188 OMIM:180849 OMIMPS:180849 Rubinstein-Taybi syndrome MONDO:0008409 congenital myopathy 7A, myosin storage, autosomal dominant MONDO:0019952 OMIM:608358 OMIMPS:117000 congenital myopathy MONDO:0008422 autosomal dominant sideroblastic anemia MONDO:0020099 OMIM:182170 OMIMPS:300751 inherited sideroblastic anemia MONDO:0008428 septooptic dysplasia MONDO:0013099 OMIM:182230 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0008437 hereditary spastic paraplegia 3A MONDO:0019064 OMIM:182600 OMIMPS:303350 hereditary spastic paraplegia MONDO:0008438 hereditary spastic paraplegia 4 MONDO:0019064 OMIM:182601 OMIMPS:303350 hereditary spastic paraplegia MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:0015362 OMIM:182960 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0005144 OMIM:183090 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0008464 split hand-foot malformation 1 MONDO:0016576 OMIM:183600 OMIMPS:183600 split hand-foot malformation MONDO:0008468 spondyloarthropathy, susceptibility to, 2 MONDO:0024512 OMIM:183840 OMIMPS:106300 spondyloarthropathy, susceptibility to MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0016763 OMIM:184250 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type MONDO:0016763 OMIM:184252 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type MONDO:0016763 OMIM:184253 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type MONDO:0016763 OMIM:184255 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0008483 stuttering, familial persistent, 1 MONDO:0000723 OMIM:184450 OMIMPS:184450 stutter disorder MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0008975 OMIM:184840 OMIMPS:184840 otospondylomegaepiphyseal dysplasia MONDO:0008519 multiple synostoses syndrome 1 MONDO:0017923 OMIM:186500 OMIMPS:186500 multiple synostoses syndrome MONDO:0008535 telangiectasia, hereditary hemorrhagic, type 1 MONDO:0019180 OMIM:187300 OMIMPS:187300 hereditary hemorrhagic telangiectasia MONDO:0008552 platelet-type bleeding disorder 16 MONDO:0000009 OMIM:187800 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0008553 platelet-type bleeding disorder 17 MONDO:0000009 OMIM:187900 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0008554 thrombocythemia 1 MONDO:0019111 OMIM:187950 OMIMPS:187950 familial thrombocytosis MONDO:0008555 thrombocytopenia 2 MONDO:0100241 OMIM:188000 OMIMPS:313900 inherited thrombocytopenia MONDO:0008559 thrombophilia due to thrombin defect MONDO:0100240 OMIM:188050 OMIMPS:188050 inherited thrombophilia MONDO:0008560 thrombophilia due to activated protein C resistance MONDO:0100240 OMIM:188055 OMIMPS:188050 inherited thrombophilia MONDO:0008567 thyroid cancer, nonmedullary, 1 MONDO:0017896 OMIM:188550 OMIMPS:188550 familial nonmedullary thyroid carcinoma MONDO:0008582 tooth and nail syndrome MONDO:0019287 OMIM:189500 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0008590 tremor, hereditary essential, 1 MONDO:0003233 OMIM:190300 OMIMPS:190300 essential tremor MONDO:0008596 trichorhinophalangeal syndrome type I MONDO:0017951 OMIM:190350 OMIMPS:190350 trichorhinophalangeal syndrome MONDO:0008603 trigonocephaly 1 MONDO:0018065 OMIM:190440 OMIMPS:190440 isolated trigonocephaly MONDO:0008612 tuberous sclerosis 1 MONDO:0001734 OMIM:191100 OMIMPS:191100 tuberous sclerosis MONDO:0008617 inflammatory bowel disease 11 MONDO:0005265 OMIM:191390 OMIMPS:266600 inflammatory bowel disease MONDO:0008647 hypertrophic cardiomyopathy 1 MONDO:0024573 OMIM:192600 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0008653 vesicoureteral reflux 1 MONDO:0017329 OMIM:193000 OMIMPS:193000 familial vesicoureteral reflux MONDO:0008654 spinocerebellar ataxia 27A MONDO:0020380 OMIM:193003 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0008660 autosomal dominant hypophosphatemic rickets MONDO:0000044 OMIM:193100 OMIMPS:193100 hereditary hypophosphatemic rickets MONDO:0008670 Waardenburg syndrome type 1 MONDO:0018094 OMIM:193500 OMIMPS:193500 Waardenburg syndrome MONDO:0008675 Freeman-Sheldon syndrome MONDO:0019942 OMIM:193700 OMIMPS:108120 distal arthrogryposis MONDO:0008676 white sponge nevus 1 MONDO:0015748 OMIM:193900 OMIMPS:193900 hereditary mucosal leukokeratosis MONDO:0008679 Wilms tumor 1 MONDO:0003321 OMIM:194070 OMIMPS:194070 hereditary Wilms tumor MONDO:0008680 Wilms tumor 2 MONDO:0003321 OMIM:194071 OMIMPS:194070 hereditary Wilms tumor MONDO:0008683 Wilms tumor 3 MONDO:0003321 OMIM:194090 OMIMPS:194070 hereditary Wilms tumor MONDO:0008701 achondrogenesis type IA MONDO:0019648 OMIM:200600 OMIMPS:200600 achondrogenesis MONDO:0008702 achondrogenesis type II MONDO:0019648 OMIM:200610 OMIMPS:200600 achondrogenesis MONDO:0008703 acromesomelic dysplasia 2A MONDO:0019696 OMIM:200700 OMIMPS:602875 acromesomelic dysplasia MONDO:0008710 RAB23-related Carpenter syndrome MONDO:0019012 OMIM:201000 OMIMPS:201000 Carpenter syndrome MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type MONDO:0019696 OMIM:201250 OMIMPS:602875 acromesomelic dysplasia MONDO:0008746 oculocutaneous albinism type 2 MONDO:0018910 OMIM:203200 OMIMPS:203100 oculocutaneous albinism MONDO:0008747 oculocutaneous albinism type 3 MONDO:0018910 OMIM:203290 OMIMPS:203100 oculocutaneous albinism MONDO:0008757 alopecia universalis congenita MONDO:0000005 OMIM:203655 OMIMPS:203655 alopecia, isolated MONDO:0008762 autosomal recessive Alport syndrome MONDO:0018965 OMIM:203780 OMIMPS:301050 Alport syndrome MONDO:0008764 Leber congenital amaurosis 1 MONDO:0018998 OMIM:204000 OMIMPS:204000 Leber congenital amaurosis MONDO:0008765 Leber congenital amaurosis 2 MONDO:0018998 OMIM:204100 OMIMPS:204000 Leber congenital amaurosis MONDO:0008771 amelogenesis imperfecta type 1G MONDO:0019507 OMIM:204690 OMIMPS:104500 amelogenesis imperfecta MONDO:0008787 microcytic anemia with liver iron overload MONDO:0000104 OMIM:206100 OMIMPS:206100 anemia, hypochromic microcytic with iron overload MONDO:0008791 anencephaly 1 MONDO:0000819 OMIM:206500 OMIMPS:206500 anencephaly MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0016073 OMIM:206900 OMIMPS:309800 syndromic microphthalmia MONDO:0008817 arterial calcification, generalized, of infancy, 1 MONDO:0018870 OMIM:208000 OMIMPS:208000 arterial calcification of infancy MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 MONDO:0017123 OMIM:208085 OMIMPS:208085 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type MONDO:0015168 OMIM:208100 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0008831 asphyxiating thoracic dystrophy 1 MONDO:0018770 OMIM:208500 OMIMPS:208500 Jeune syndrome MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 MONDO:0017417 OMIM:208540 OMIMPS:208540 renal-hepatic-pancreatic dysplasia MONDO:0008854 Bardet-Biedl syndrome 1 MONDO:0015229 OMIM:209900 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency MONDO:0018950 OMIM:210200 OMIMPS:210200 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency MONDO:0018950 OMIM:210210 OMIMPS:210200 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0008869 Seckel syndrome 1 MONDO:0019342 OMIM:210600 OMIMPS:210600 Seckel syndrome MONDO:0008876 Bloom syndrome MONDO:0020629 OMIM:210900 OMIMPS:210900 microcephaly, growth restriction and increased sister chromatid exchange MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:0015762 OMIM:211600 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0005500 OMIM:212065 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0005501 OMIM:212066 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0008913 cardiac valvular defect, developmental MONDO:0031323 OMIM:212093 OMIMPS:212093 cardiac valvular defect MONDO:0008922 Sengers syndrome MONDO:0018158 OMIM:212350 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0008944 Joubert syndrome 1 MONDO:0018772 OMIM:213300 OMIMPS:213300 Joubert syndrome MONDO:0008955 cerebrooculofacioskeletal syndrome 1 MONDO:0008926 OMIM:214150 OMIMPS:214150 COFS syndrome MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive MONDO:0001029 OMIM:214300 OMIMPS:118100 Klippel-Feil syndrome MONDO:0008962 Griscelli syndrome type 1 MONDO:0018306 OMIM:214450 OMIMPS:214450 Griscelli syndrome MONDO:0008967 congenital bile acid synthesis defect 4 MONDO:0018841 OMIM:214950 OMIMPS:607765 congenital bile acid synthesis defect MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:0015776 OMIM:215100 OMIMPS:215100 rhizomelic chondrodysplasia punctata MONDO:0008988 citrullinemia type I MONDO:0015991 OMIM:215700 OMIMPS:215700 citrullinemia MONDO:0009014 cornea plana 2 MONDO:0000733 OMIM:217300 OMIMPS:121400 cornea plana MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive MONDO:0015465 OMIM:218400 OMIMPS:123000 craniometaphyseal dysplasia MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:0017824 OMIM:219090 OMIMPS:102200 familial isolated pituitary adenoma MONDO:0009053 ALDH18A1-related de Barsy syndrome MONDO:0100237 OMIM:219150 OMIMPS:123700 inherited cutis laxa MONDO:0009073 Ritscher-Schinzel syndrome 1 MONDO:0019078 OMIM:220210 OMIMPS:220210 Ritscher-Schinzel syndrome MONDO:0009076 autosomal recessive nonsyndromic hearing loss 1A MONDO:0019588 OMIM:220290 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities MONDO:0013099 OMIM:221750 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive MONDO:0019631 OMIM:221900 OMIMPS:221900 persistent hyperplastic primary vitreous MONDO:0009103 diaphragmatic hernia 2 MONDO:0005711 OMIM:222400 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:0015776 OMIM:222765 OMIMPS:215100 rhizomelic chondrodysplasia punctata MONDO:0009123 orthostatic hypotension 1 MONDO:0021272 OMIM:223360 OMIMPS:223360 inherited orthostatic hypotension MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:0019403 OMIM:224100 OMIMPS:224120 congenital dyserythropoietic anemia MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 MONDO:0015780 OMIM:224230 OMIMPS:127550 dyskeratosis congenita MONDO:0009143 Meier-Gorlin syndrome 1 MONDO:0016817 OMIM:224690 OMIMPS:224690 Meier-Gorlin syndrome MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0000358 OMIM:225060 OMIMPS:119530 orofacial cleft MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 MONDO:0000045 OMIM:225250 OMIMPS:275200 hypothyroidism, congenital, nongoitrous MONDO:0009157 split hand-foot malformation 6 MONDO:0016576 OMIM:225300 OMIMPS:183600 split hand-foot malformation MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type MONDO:0020066 OMIM:225320 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0020066 OMIM:225410 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0009162 Ellis-van Creveld syndrome MONDO:0018770 OMIM:225500 OMIMPS:208500 Jeune syndrome MONDO:0009165 Aicardi-Goutieres syndrome 1 MONDO:0018866 OMIM:225750 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0009166 pontocerebellar hypoplasia type 4 MONDO:0020135 OMIM:225753 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type MONDO:0017612 OMIM:226650 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0017610 OMIM:226670 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:0017612 OMIM:226700 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO:0017612 OMIM:226730 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0009189 multiple epiphyseal dysplasia type 4 MONDO:0016648 OMIM:226900 OMIMPS:132400 multiple epiphyseal dysplasia MONDO:0009203 focal facial dermal dysplasia type III MONDO:0018363 OMIM:227260 OMIMPS:136500 focal facial dermal dysplasia MONDO:0009213 Fanconi anemia complementation group C MONDO:0019391 OMIM:227645 OMIMPS:227650 Fanconi anemia MONDO:0009214 Fanconi anemia complementation group D2 MONDO:0019391 OMIM:227646 OMIMPS:227650 Fanconi anemia MONDO:0009215 Fanconi anemia complementation group A MONDO:0019391 OMIM:227650 OMIMPS:227650 Fanconi anemia MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia MONDO:0018555 OMIM:228300 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0009226 fibrochondrogenesis 1 MONDO:0016068 OMIM:228520 OMIMPS:228520 fibrochondrogenesis MONDO:0009227 myofibromatosis, infantile, 1 MONDO:0016824 OMIM:228550 OMIMPS:228550 infantile myofibromatosis MONDO:0009231 acromesomelic dysplasia 2B MONDO:0019696 OMIM:228900 OMIMPS:602875 acromesomelic dysplasia MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MONDO:0018555 OMIM:229070 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0009255 galactokinase deficiency MONDO:0018116 OMIM:230200 OMIMPS:230400 galactosemia MONDO:0009257 galactose epimerase deficiency MONDO:0018116 OMIM:230350 OMIMPS:230400 galactosemia MONDO:0009258 classic galactosemia MONDO:0018116 OMIM:230400 OMIMPS:230400 galactosemia MONDO:0009269 geleophysic dysplasia 1 MONDO:0000127 OMIM:231050 OMIMPS:231050 geleophysic dysplasia MONDO:0009276 Bernard-Soulier syndrome MONDO:0000009 OMIM:231200 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0009290 glycogen storage disease II MONDO:0002412 OMIM:232300 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009291 glycogen storage disease III MONDO:0002412 OMIM:232400 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0002412 OMIM:232500 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009293 glycogen storage disease V MONDO:0002412 OMIM:232600 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009294 glycogen storage disease VI MONDO:0002412 OMIM:232700 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009295 glycogen storage disease VII MONDO:0002412 OMIM:232800 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009300 Perrault syndrome 1 MONDO:0017312 OMIM:233400 OMIMPS:233400 Perrault syndrome MONDO:0009301 46,XY sex reversal 7 MONDO:0010765 OMIM:233420 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MONDO:0018305 OMIM:233690 OMIMPS:306400 chronic granulomatous disease MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MONDO:0018305 OMIM:233700 OMIMPS:306400 chronic granulomatous disease MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MONDO:0018305 OMIM:233710 OMIMPS:306400 chronic granulomatous disease MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0018307 OMIM:234200 OMIMPS:234200 neurodegeneration with brain iron accumulation MONDO:0009329 pulmonary venoocclusive disease 2 MONDO:0009937 OMIM:234810 OMIMPS:265450 pulmonary venoocclusive disease MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 MONDO:0016256 OMIM:235510 OMIMPS:235510 Hennekam syndrome MONDO:0009339 congenital bile acid synthesis defect 2 MONDO:0018841 OMIM:235555 OMIMPS:607765 congenital bile acid synthesis defect MONDO:0009349 holoprosencephaly 1 MONDO:0016296 OMIM:236100 OMIMPS:236100 holoprosencephaly MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 MONDO:0016349 OMIM:236600 OMIMPS:236600 congenital hydrocephalus MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 MONDO:0000171 OMIM:236670 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0009365 hydrolethalus syndrome 1 MONDO:0006037 OMIM:236680 OMIMPS:236680 hydrolethalus syndrome MONDO:0009368 urofacial syndrome type 1 MONDO:0000463 OMIM:236730 OMIMPS:236730 Ochoa syndrome MONDO:0009379 Rotor syndrome MONDO:0002408 OMIM:237450 OMIMPS:237450 hereditary hyperbilirubinemia MONDO:0009380 Dubin-Johnson syndrome MONDO:0002408 OMIM:237500 OMIMPS:237450 hereditary hyperbilirubinemia MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO:0002408 OMIM:237900 OMIMPS:237450 hereditary hyperbilirubinemia MONDO:0009394 juvenile Paget disease MONDO:0005382 OMIM:239000 OMIMPS:167250 bone Paget disease MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 MONDO:0016596 OMIM:239300 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0009413 immunodeficiency, common variable, 2 MONDO:0015517 OMIM:240500 OMIMPS:607594 common variable immunodeficiency MONDO:0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency MONDO:0002412 OMIM:240600 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009424 Bartter disease type 2 MONDO:0015231 OMIM:241200 OMIMPS:601678 Bartter syndrome MONDO:0009433 hypoplastic left heart syndrome 1 MONDO:0004933 OMIM:241550 OMIMPS:241550 hypoplastic left heart syndrome MONDO:0009434 hypoproteinemia, hypercatabolic MONDO:0021094 OMIM:241600 OMIMPS:300755 immunodeficiency disease MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss MONDO:0018781 OMIM:242150 OMIMPS:148210 KID syndrome MONDO:0009441 autosomal recessive congenital ichthyosis 1 MONDO:0017265 OMIM:242300 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:0000133 OMIM:242860 OMIMPS:242860 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0009461 spermatogenic failure 5 MONDO:0004983 OMIM:243060 OMIMPS:258150 spermatogenic failure MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 MONDO:0019008 OMIM:243300 OMIMPS:243300 benign recurrent intrahepatic cholestasis MONDO:0009470 Baraitser-Winter syndrome 1 MONDO:0017579 OMIM:243310 OMIMPS:243310 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency MONDO:0018037 OMIM:243700 OMIMPS:147060 hyper-IgE syndrome MONDO:0009484 primary ciliary dyskinesia 1 MONDO:0016575 OMIM:244400 OMIMPS:244400 primary ciliary dyskinesia MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:0016516 OMIM:244460 OMIMPS:127000 Kenny-Caffey syndrome MONDO:0009502 pyruvate dehydrogenase E2 deficiency MONDO:0019169 OMIM:245348 OMIMPS:312170 pyruvate dehydrogenase deficiency MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency MONDO:0019169 OMIM:245349 OMIMPS:312170 pyruvate dehydrogenase deficiency MONDO:0009525 split hand-foot malformation 3 MONDO:0016576 OMIM:246560 OMIMPS:183600 split hand-foot malformation MONDO:0009529 pyruvate dehydrogenase E3 deficiency MONDO:0009563 OMIM:246900 OMIMPS:248600 maple syrup urine disease MONDO:0009554 3MC syndrome 3 MONDO:0017398 OMIM:248340 OMIMPS:257920 3MC syndrome MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy MONDO:0016584 OMIM:248370 OMIMPS:248370 mandibuloacral dysplasia MONDO:0009558 Treacher Collins syndrome 3 MONDO:0002457 OMIM:248390 OMIMPS:154500 Treacher-Collins syndrome MONDO:0009568 mast syndrome MONDO:0019064 OMIM:248900 OMIMPS:303350 hereditary spastic paraplegia MONDO:0009571 Meckel syndrome, type 1 MONDO:0018921 OMIM:249000 OMIMPS:249000 Meckel syndrome MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0000152 OMIM:249270 OMIMPS:249270 thiamine-responsive dysfunction syndrome MONDO:0009580 intellectual disability, autosomal recessive 1 MONDO:0019502 OMIM:249500 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:0016763 OMIM:250220 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0017359 OMIM:250950 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0009611 3-methylglutaconic aciduria type 4 MONDO:0017359 OMIM:250951 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0009617 microcephaly 1, primary, autosomal recessive MONDO:0016660 OMIM:251200 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0000181 OMIM:251270 OMIMPS:251270 microcephaly and chorioretinopathy MONDO:0009625 diencephalic-mesencephalic junction dysplasia syndrome 1 MONDO:0017868 OMIM:251280 OMIMPS:251280 diencephalic-mesencephalic junction dysplasia MONDO:0009629 Desbuquois dysplasia 1 MONDO:0015426 OMIM:251450 OMIMPS:251450 Desbuquois dysplasia MONDO:0009630 microphthalmia, isolated, with coloboma 4 MONDO:0000170 OMIM:251505 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0009631 isolated microphthalmia 1 MONDO:0000062 OMIM:251600 OMIMPS:251600 isolated microphthalmia MONDO:0009642 orofaciodigital syndrome type II MONDO:0015375 OMIM:252100 OMIMPS:311200 orofaciodigital syndrome MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0020480 OMIM:252150 OMIMPS:252150 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0020480 OMIM:252160 OMIMPS:252150 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 MONDO:0044645 OMIM:252270 OMIMPS:252270 familial monosomy 7 syndrome MONDO:0009649 moyamoya disease 1 MONDO:0016820 OMIM:252350 OMIMPS:252350 Moyamoya disease MONDO:0009652 GNPTG-mucolipidosis MONDO:0031422 OMIM:252605 OMIMPS:256550 familial mucolipidosis MONDO:0009653 mucolipidosis type IV MONDO:0031422 OMIM:252650 OMIMPS:256550 familial mucolipidosis MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0019249 OMIM:253200 OMIMPS:607014 mucopolysaccharidosis MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0019249 OMIM:253220 OMIMPS:607014 mucopolysaccharidosis MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 MONDO:0000171 OMIM:253280 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0017436 OMIM:253310 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A MONDO:0015152 OMIM:253600 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B MONDO:0015152 OMIM:253601 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:0015152 OMIM:253700 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 MONDO:0000171 OMIM:253800 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0009681 Ullrich congenital muscular dystrophy 1A MONDO:0000355 OMIM:254090 OMIMPS:254090 Ullrich congenital muscular dystrophy MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H MONDO:0015152 OMIM:254110 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0009689 congenital myasthenic syndrome 6 MONDO:0018940 OMIM:254210 OMIMPS:601462 congenital myasthenic syndrome MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 OMIM:254800 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0009699 action myoclonus-renal failure syndrome MONDO:0020074 OMIM:254900 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:0019952 OMIM:255160 OMIMPS:117000 congenital myopathy MONDO:0009713 myopia 18, autosomal recessive MONDO:0001384 OMIM:255500 OMIMPS:160700 myopia MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0019952 OMIM:255995 OMIMPS:117000 congenital myopathy MONDO:0009727 atelosteogenesis type II MONDO:0000389 OMIM:256050 OMIMPS:108720 atelosteogenesis MONDO:0009728 nephronophthisis 1 MONDO:0019005 OMIM:256100 OMIMPS:256100 nephronophthisis MONDO:0009732 congenital nephrotic syndrome, Finnish type MONDO:0002350 OMIM:256300 OMIMPS:256300 familial nephrotic syndrome MONDO:0009733 nephrotic syndrome, type 4 MONDO:0002350 OMIM:256370 OMIMPS:256300 familial nephrotic syndrome MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 MONDO:0005803 OMIM:256450 OMIMPS:256450 hyperinsulinemic hypoglycemia MONDO:0009736 Neu-Laxova syndrome 1 MONDO:0000179 OMIM:256520 OMIMPS:256520 Neu-Laxova syndrome MONDO:0009738 sialidosis type 2 MONDO:0031422 OMIM:256550 OMIMPS:256550 familial mucolipidosis MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0016295 OMIM:256730 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0016295 OMIM:256731 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO:0015364 OMIM:256800 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0009749 giant axonal neuropathy 1 MONDO:0000128 OMIM:256850 OMIMPS:256850 giant axonal neuropathy MONDO:0009758 congenital stationary night blindness 1B MONDO:0016293 OMIM:257270 OMIMPS:310500 congenital stationary night blindness MONDO:0009759 mosaic variegated aneuploidy syndrome 1 MONDO:0000141 OMIM:257300 OMIMPS:257300 mosaic variegated aneuploidy syndrome MONDO:0009762 nystagmus, congenital, autosomal recessive MONDO:0005712 OMIM:257400 OMIMPS:310700 congenital nystagmus MONDO:0009770 3MC syndrome 1 MONDO:0017398 OMIM:257920 OMIMPS:257920 3MC syndrome MONDO:0009776 spermatogenic failure 1 MONDO:0004983 OMIM:258150 OMIMPS:258150 spermatogenic failure MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 OMIM:258315 OMIMPS:258315 omodysplasia MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO:0000090 OMIM:258450 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO:0009786 optic atrophy 6 MONDO:0043878 OMIM:258500 OMIMPS:165500 hereditary optic atrophy MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0017359 OMIM:258501 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0009793 orofaciodigital syndrome III MONDO:0015375 OMIM:258850 OMIMPS:311200 orofaciodigital syndrome MONDO:0009794 orofaciodigital syndrome IV MONDO:0015375 OMIM:258860 OMIMPS:311200 orofaciodigital syndrome MONDO:0009795 orofaciodigital syndrome IX MONDO:0015375 OMIM:258865 OMIMPS:311200 orofaciodigital syndrome MONDO:0009806 Bruck syndrome 1 MONDO:0017195 OMIM:259450 OMIMPS:259450 Bruck syndrome MONDO:0009815 autosomal recessive osteopetrosis 1 MONDO:0019026 OMIM:259700 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0009816 autosomal recessive osteopetrosis 2 MONDO:0019026 OMIM:259710 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0009817 autosomal recessive osteopetrosis 5 MONDO:0019026 OMIM:259720 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0009818 autosomal recessive osteopetrosis 3 MONDO:0019026 OMIM:259730 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0009823 primary hyperoxaluria type 1 MONDO:0002474 OMIM:259900 OMIMPS:259900 primary hyperoxaluria MONDO:0009824 primary hyperoxaluria type 2 MONDO:0002474 OMIM:260000 OMIMPS:259900 primary hyperoxaluria MONDO:0009830 parkinsonian-pyramidal syndrome MONDO:0005180 OMIM:260300 OMIMPS:168600 Parkinson disease MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0002412 OMIM:261670 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0002412 OMIM:261740 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009868 glycogen storage disease IXb MONDO:0002412 OMIM:261750 OMIMPS:232200 disorder of glycogen metabolism MONDO:0009876 isolated growth hormone deficiency type IA MONDO:0000050 OMIM:262400 OMIMPS:262400 isolated congenital growth hormone deficiency MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO:0013099 OMIM:262700 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0009885 Scott syndrome MONDO:0000009 OMIM:262890 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0009892 Chuvash polycythemia MONDO:0001115 OMIM:263400 OMIMPS:133100 familial polycythemia MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly MONDO:0018770 OMIM:263520 OMIMPS:208500 Jeune syndrome MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0020732 OMIM:264090 OMIMPS:176670 progeria MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive MONDO:0019161 OMIM:264350 OMIMPS:177735 pseudohypoaldosteronism type 1 MONDO:0009927 3MC syndrome 2 MONDO:0017398 OMIM:265050 OMIMPS:257920 3MC syndrome MONDO:0009929 surfactant metabolism dysfunction, pulmonary, 1 MONDO:0012580 OMIM:265120 OMIMPS:265120 hereditary pulmonary alveolar proteinosis MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0005501 OMIM:266265 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0009960 inflammatory bowel disease 1 MONDO:0005265 OMIM:266600 OMIMPS:266600 inflammatory bowel disease MONDO:0009962 Senior-Loken syndrome 1 MONDO:0017842 OMIM:266900 OMIMPS:266900 Senior-Loken syndrome MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO:0018770 OMIM:266920 OMIMPS:208500 Jeune syndrome MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO:0018921 OMIM:267010 OMIMPS:249000 Meckel syndrome MONDO:0009973 reticular dysgenesis MONDO:0031520 OMIM:267500 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 MONDO:0015541 OMIM:267700 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0009990 Revesz syndrome MONDO:0015780 OMIM:268130 OMIMPS:127550 dyskeratosis congenita MONDO:0009999 autosomal recessive Robinow syndrome MONDO:0019978 OMIM:268310 OMIMPS:268310 Robinow syndrome MONDO:0010015 anterior segment dysgenesis 7 MONDO:0019503 OMIM:269400 OMIMPS:107250 anterior segment dysgenesis MONDO:0010016 sclerosteosis 1 MONDO:0017838 OMIM:269500 OMIMPS:269500 sclerosteosis MONDO:0010020 congenital generalized lipodystrophy type 2 MONDO:0006536 OMIM:269700 OMIMPS:608594 congenital generalized lipodystrophy MONDO:0010024 Beemer-Langer syndrome MONDO:0018770 OMIM:269860 OMIMPS:208500 Jeune syndrome MONDO:0010047 hereditary spastic paraplegia 5A MONDO:0019064 OMIM:270800 OMIMPS:303350 hereditary spastic paraplegia MONDO:0010052 spermatogenic failure 4 MONDO:0004983 OMIM:270960 OMIMPS:258150 spermatogenic failure MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO:0019675 OMIM:271640 OMIMPS:271640 spondyloepimetaphyseal dysplasia with joint laxity MONDO:0010080 familial infantile bilateral striatal necrosis MONDO:0003122 OMIM:271930 OMIMPS:271930 striatonigral degeneration MONDO:0010091 Cold-induced sweating syndrome 1 MONDO:0015526 OMIM:272430 OMIMPS:272430 cold-induced sweating syndrome MONDO:0010117 3M syndrome 1 MONDO:0007477 OMIM:273750 OMIMPS:273750 3-M syndrome MONDO:0010120 thrombocytopenia 3 MONDO:0100241 OMIM:273900 OMIMPS:313900 inherited thrombocytopenia MONDO:0010133 thyroid dyshormonogenesis 2A MONDO:0010132 OMIM:274500 OMIMPS:274400 familial thyroid dyshormonogenesis MONDO:0010135 thyroid dyshormonogenesis 3 MONDO:0010132 OMIM:274700 OMIMPS:274400 familial thyroid dyshormonogenesis MONDO:0010136 thyroid dyshormonogenesis 4 MONDO:0010132 OMIM:274800 OMIMPS:274400 familial thyroid dyshormonogenesis MONDO:0010137 thyroid dyshormonogenesis 5 MONDO:0010132 OMIM:274900 OMIMPS:274400 familial thyroid dyshormonogenesis MONDO:0010139 isolated thyroid-stimulating hormone deficiency MONDO:0000045 OMIM:275100 OMIMPS:275200 hypothyroidism, congenital, nongoitrous MONDO:0010142 hypothyroidism due to TSH receptor mutations MONDO:0000045 OMIM:275200 OMIMPS:275200 hypothyroidism, congenital, nongoitrous MONDO:0010159 mismatch repair cancer syndrome 1 MONDO:0031219 OMIM:276300 OMIMPS:276300 mismatch repair cancer syndrome MONDO:0010160 tyrosinemia type II MONDO:0004741 OMIM:276600 OMIMPS:276700 tyrosinemia MONDO:0010161 tyrosinemia type I MONDO:0004741 OMIM:276700 OMIMPS:276700 tyrosinemia MONDO:0010162 tyrosinemia type III MONDO:0004741 OMIM:276710 OMIMPS:276700 tyrosinemia MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0015375 OMIM:277170 OMIMPS:311200 orofaciodigital syndrome MONDO:0010178 congenital bilateral aplasia of vas deferens from CFTR mutation MONDO:0018801 OMIM:277180 OMIMPS:277180 congenital bilateral absence of vas deferens MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MONDO:0016826 OMIM:277380 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0016826 OMIM:277400 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:0016826 OMIM:277410 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0015722 OMIM:277450 OMIMPS:277450 congenital vitamin K-dependent coagulation factors deficiency MONDO:0010194 Weill-Marchesani syndrome 1 MONDO:0018096 OMIM:277600 OMIMPS:277600 Weill-Marchesani syndrome MONDO:0010206 hypotrichosis 8 MONDO:0003037 OMIM:278150 OMIMPS:605389 hypotrichosis MONDO:0010209 xanthinuria type I MONDO:0018106 OMIM:278300 OMIMPS:278300 hereditary xanthinuria MONDO:0010225 Dent disease type 1 MONDO:0015612 OMIM:300009 OMIMPS:300009 Dent disease MONDO:0010226 46,XY sex reversal 2 MONDO:0010765 OMIM:300018 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0010227 retinitis pigmentosa 3 MONDO:0019200 OMIM:300029 OMIMPS:268000 retinitis pigmentosa MONDO:0010229 alopecia, congenital MONDO:0000005 OMIM:300042 OMIMPS:203655 alopecia, isolated MONDO:0010230 intellectual disability, X-linked 23 MONDO:0019181 OMIM:300046 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010231 intellectual disability, X-linked 20 MONDO:0019181 OMIM:300047 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010233 heterotopia, periventricular, X-linked dominant MONDO:0020341 OMIM:300049 OMIMPS:300049 periventricular nodular heterotopia MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome MONDO:0020119 OMIM:300055 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010236 intellectual disability, X-linked 14 MONDO:0019181 OMIM:300062 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010246 developmental and epileptic encephalopathy, 9 MONDO:0100062 OMIM:300088 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0010250 intellectual disability, X-linked 49 MONDO:0020119 OMIM:300114 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010251 intellectual disability, X-linked 50 MONDO:0019181 OMIM:300115 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010253 migraine, familial typical, susceptibility to, 2 MONDO:0100246 OMIM:300125 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0010256 intellectual disability, X-linked 21 MONDO:0019181 OMIM:300143 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010258 MEHMO syndrome MONDO:0020119 OMIM:300148 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010259 retinitis pigmentosa 24 MONDO:0019200 OMIM:300155 OMIMPS:268000 retinitis pigmentosa MONDO:0010261 microphthalmia, syndromic 2 MONDO:0016073 OMIM:300166 OMIMPS:309800 syndromic microphthalmia MONDO:0010266 intellectual disability, X-linked 58 MONDO:0019181 OMIM:300210 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO:0018838 OMIM:300215 OMIMPS:607432 lissencephaly spectrum disorders MONDO:0010270 syndromic X-linked intellectual disability 7 MONDO:0020119 OMIM:300218 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010277 syndromic X-linked intellectual disability Shashi type MONDO:0020119 OMIM:300238 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:0020119 OMIM:300260 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010285 syndromic X-linked intellectual disability Abidi type MONDO:0020119 OMIM:300262 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010286 syndromic X-linked intellectual disability Siderius type MONDO:0020119 OMIM:300263 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010287 hereditary spastic paraplegia 16 MONDO:0019064 OMIM:300266 OMIMPS:303350 hereditary spastic paraplegia MONDO:0010289 intellectual disability, X-linked 72 MONDO:0019181 OMIM:300271 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010290 goiter, multinodular 2 MONDO:0000334 OMIM:300273 OMIMPS:138800 multinodular goiter MONDO:0010294 X-linked severe congenital neutropenia MONDO:0018542 OMIM:300299 OMIMPS:202700 severe congenital neutropenia MONDO:0010296 immunodeficiency 61 MONDO:0015977 OMIM:300310 OMIMPS:601495 agammaglobulinemia MONDO:0010297 FG syndrome 2 MONDO:0002010 OMIM:300321 OMIMPS:305450 FG syndrome MONDO:0010300 intellectual disability, X-linked 53 MONDO:0019181 OMIM:300324 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010305 creatine transporter deficiency MONDO:0000456 OMIM:300352 OMIMPS:300352 cerebral creatine deficiency syndrome MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:0020119 OMIM:300354 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010307 intellectual disability, X-linked 73 MONDO:0019181 OMIM:300355 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010309 intellectual disability, X-linked 42 MONDO:0019181 OMIM:300372 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010313 intellectual disability, X-linked 63 MONDO:0019181 OMIM:300387 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0031520 OMIM:300400 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0010316 FG syndrome 3 MONDO:0002010 OMIM:300406 OMIMPS:305450 FG syndrome MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related MONDO:0019181 OMIM:300419 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010318 FG syndrome 4 MONDO:0002010 OMIM:300422 OMIMPS:305450 FG syndrome MONDO:0010320 retinitis pigmentosa 23 MONDO:0019200 OMIM:300424 OMIMPS:268000 retinitis pigmentosa MONDO:0010322 intellectual disability, X-linked 2 MONDO:0019181 OMIM:300428 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010324 intellectual disability, X-linked 81 MONDO:0019181 OMIM:300433 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:0020119 OMIM:300434 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010326 intellectual disability, X-linked 46 MONDO:0019181 OMIM:300436 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010329 intellectual disability, X-linked 77 MONDO:0019181 OMIM:300454 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0020119 OMIM:300472 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010336 orofaciodigital syndrome VIII MONDO:0015375 OMIM:300484 OMIMPS:311200 orofaciodigital syndrome MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0020119 OMIM:300486 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0859390 OMIM:300491 OMIMPS:300491 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features MONDO:0010344 intellectual disability, X-linked 45 MONDO:0019181 OMIM:300498 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010347 intellectual disability, X-linked 84 MONDO:0019181 OMIM:300505 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010349 ovarian dysgenesis 2 MONDO:0009299 OMIM:300510 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0010350 premature ovarian failure 2A MONDO:0019852 OMIM:300511 OMIMPS:311360 inherited primary ovarian failure MONDO:0010351 Fanconi anemia complementation group B MONDO:0019391 OMIM:300514 OMIMPS:227650 Fanconi anemia MONDO:0010352 intellectual disability, X-linked 82 MONDO:0019181 OMIM:300518 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0020119 OMIM:300534 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010359 Dent disease type 2 MONDO:0015612 OMIM:300555 OMIMPS:300009 Dent disease MONDO:0010361 intellectual disability, X-linked 30 MONDO:0019181 OMIM:300558 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010362 glycogen storage disease IXd MONDO:0002412 OMIM:300559 OMIMPS:232200 disorder of glycogen metabolism MONDO:0010363 intellectual disability, X-linked 91 MONDO:0019181 OMIM:300577 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010366 FG syndrome 5 MONDO:0002010 OMIM:300581 OMIMPS:305450 FG syndrome MONDO:0010369 nystagmus 5, congenital, X-linked MONDO:0005712 OMIM:300589 OMIMPS:310700 congenital nystagmus MONDO:0010370 Cornelia de Lange syndrome 2 MONDO:0016033 OMIM:300590 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0010373 premature ovarian failure 2B MONDO:0019852 OMIM:300604 OMIMPS:311360 inherited primary ovarian failure MONDO:0010374 retinitis pigmentosa 34 MONDO:0019200 OMIM:300605 OMIMPS:268000 retinitis pigmentosa MONDO:0010375 developmental and epileptic encephalopathy, 8 MONDO:0100062 OMIM:300607 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0010377 myopia 13, X-linked MONDO:0001384 OMIM:300613 OMIMPS:160700 myopia MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss MONDO:0021944 OMIM:300614 OMIMPS:609129 auditory neuropathy MONDO:0010384 hypospadias 1, X-linked MONDO:0005345 OMIM:300633 OMIMPS:300633 hypospadias MONDO:0010393 intellectual disability, X-linked 93 MONDO:0019181 OMIM:300659 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0100062 OMIM:300672 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0010398 syndromic X-linked intellectual disability 14 MONDO:0020119 OMIM:300676 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010402 syndromic X-linked intellectual disability 94 MONDO:0020119 OMIM:300699 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010406 chromosome Xp11.22 duplication syndrome MONDO:0019181 OMIM:300705 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010407 intellectual disability, X-linked syndromic, Turner type MONDO:0020119 OMIM:309590 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type MONDO:0020119 OMIM:300709 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010410 alopecia, androgenetic, 2 MONDO:0000005 OMIM:300710 OMIMPS:203655 alopecia, isolated MONDO:0010411 pyloric stenosis, infantile hypertrophic, 4 MONDO:0100239 OMIM:300711 OMIMPS:179010 inherited hypertrophic pyloric stenosis MONDO:0010413 intellectual disability, X-linked 95 MONDO:0019181 OMIM:300716 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0020119 OMIM:300749 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:0001676 OMIM:300752 OMIMPS:177000 erythropoietic protoporphyria MONDO:0010423 hypospadias 2, X-linked MONDO:0005345 OMIM:300758 OMIMPS:300633 hypospadias MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 MONDO:0012580 OMIM:300770 OMIMPS:265120 hereditary pulmonary alveolar proteinosis MONDO:0010427 syndromic X-linked intellectual disability Raymond type MONDO:0020119 OMIM:300799 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010429 intellectual disability, X-linked 96 MONDO:0019181 OMIM:300802 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010430 intellectual disability, X-linked 97 MONDO:0019181 OMIM:300803 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010431 Joubert syndrome 10 MONDO:0018772 OMIM:300804 OMIMPS:213300 Joubert syndrome MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect MONDO:0100240 OMIM:300807 OMIMPS:188050 inherited thrombophilia MONDO:0010435 nystagmus 6, congenital, X-linked MONDO:0005712 OMIM:300814 OMIMPS:310700 congenital nystagmus MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0000732 OMIM:300816 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 MONDO:0100244 OMIM:300818 OMIMPS:300818 paroxysmal nocturnal hemoglobinuria MONDO:0010447 intellectual disability, X-linked 19 MONDO:0019181 OMIM:300844 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0016820 OMIM:300845 OMIMPS:252350 Moyamoya disease MONDO:0010450 intellectual disability, X-linked 89 MONDO:0019181 OMIM:300848 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010451 intellectual disability, X-linked 41 MONDO:0019181 OMIM:300849 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010452 intellectual disability, X-linked 90 MONDO:0019181 OMIM:300850 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010453 intellectual disability, X-linked 92 MONDO:0019181 OMIM:300851 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010454 intellectual disability, X-linked 88 MONDO:0019181 OMIM:300852 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010458 hypospadias 4, X-linked MONDO:0005345 OMIM:300856 OMIMPS:300633 hypospadias MONDO:0010459 amyotrophic lateral sclerosis type 15 MONDO:0005144 OMIM:300857 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0010460 syndromic X-linked intellectual disability 17 MONDO:0020119 OMIM:300858 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010461 syndromic X-linked intellectual disability Nascimento type MONDO:0020119 OMIM:300860 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type MONDO:0020119 OMIM:300861 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010465 Kabuki syndrome 2 MONDO:0016512 OMIM:300867 OMIMPS:147920 Kabuki syndrome MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0100062 OMIM:300868 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0100247 OMIM:300868 OMIMPS:614080 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0010468 aneurysm, intracranial berry, 5 MONDO:0016483 OMIM:300870 OMIMPS:105800 intracranial berry aneurysm MONDO:0010471 Cornelia de Lange syndrome 5 MONDO:0016033 OMIM:300882 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0005500 OMIM:300884 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0100062 OMIM:300884 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO:0020119 OMIM:300886 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010474 linear skin defects with multiple congenital anomalies 2 MONDO:0010672 OMIM:300887 OMIMPS:309801 linear skin defects with multiple congenital anomalies MONDO:0010476 neurodegeneration with brain iron accumulation 5 MONDO:0018307 OMIM:300894 OMIMPS:234200 neurodegeneration with brain iron accumulation MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0005501 OMIM:300896 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0016073 OMIM:300915 OMIMPS:309800 syndromic microphthalmia MONDO:0010486 Olmsted syndrome, X-linked MONDO:0031421 OMIM:300918 OMIMPS:614594 Olmsted syndrome MONDO:0010487 intellectual disability, X-linked 99 MONDO:0019181 OMIM:300919 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010488 intellectual disability, X-linked 100 MONDO:0019181 OMIM:300923 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010489 intellectual disability, X-linked 101 MONDO:0019181 OMIM:300928 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0005500 OMIM:300934 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 MONDO:0017824 OMIM:300943 OMIMPS:102200 familial isolated pituitary adenoma MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MONDO:0015253 OMIM:300946 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0010494 linear skin defects with multiple congenital anomalies 3 MONDO:0010672 OMIM:300952 OMIMPS:309801 linear skin defects with multiple congenital anomalies MONDO:0010495 trichothiodystrophy 5, nonphotosensitive MONDO:0018053 OMIM:300953 OMIMPS:601675 trichothiodystrophy MONDO:0010499 Ritscher-Schinzel syndrome 2 MONDO:0019078 OMIM:300963 OMIMPS:220210 Ritscher-Schinzel syndrome MONDO:0010500 intellectual disability, X-linked, syndromic 33 MONDO:0020119 OMIM:300966 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010501 syndromic X-linked intellectual disability 34 MONDO:0020119 OMIM:300967 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010503 Bartter disease type 5 MONDO:0015231 OMIM:300971 OMIMPS:601678 Bartter syndrome MONDO:0010506 intellectual disability, X-linked 61 MONDO:0019181 OMIM:300978 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010508 intellectual disability, X-linked 103 MONDO:0019181 OMIM:300982 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010509 intellectual disability, X-linked 104 MONDO:0019181 OMIM:300983 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010510 intellectual disability, X-linked 105 MONDO:0019181 OMIM:300984 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked MONDO:0018801 OMIM:300985 OMIMPS:277180 congenital bilateral absence of vas deferens MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type MONDO:0020119 OMIM:300986 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked MONDO:0016575 OMIM:300991 OMIMPS:244400 primary ciliary dyskinesia MONDO:0010520 X-linked Alport syndrome MONDO:0018965 OMIM:301050 OMIMPS:301050 Alport syndrome MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 MONDO:0019507 OMIM:301201 OMIMPS:104500 amelogenesis imperfecta MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO:0020119 OMIM:301900 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010543 Barth syndrome MONDO:0017359 OMIM:302060 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0020119 OMIM:304340 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010588 exudative vitreoretinopathy 2, X-linked MONDO:0019516 OMIM:305390 OMIMPS:133780 exudative vitreoretinopathy MONDO:0010590 FG syndrome 1 MONDO:0002010 OMIM:305450 OMIMPS:305450 FG syndrome MONDO:0010600 granulomatous disease, chronic, X-linked MONDO:0018305 OMIM:306400 OMIMPS:306400 chronic granulomatous disease MONDO:0010606 hernia, anterior diaphragmatic MONDO:0005711 OMIM:306950 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0010607 heterotaxy, visceral, 1, X-linked MONDO:0018677 OMIM:306955 OMIMPS:306955 visceral heterotaxy MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MONDO:0016349 OMIM:307000 OMIMPS:236600 congenital hydrocephalus MONDO:0010615 isolated growth hormone deficiency type III MONDO:0000050 OMIM:307200 OMIMPS:262400 isolated congenital growth hormone deficiency MONDO:0010626 hyper-IgM syndrome type 1 MONDO:0003947 OMIM:308230 OMIMPS:308230 hyper-IgM syndrome MONDO:0010632 developmental and epileptic encephalopathy, 1 MONDO:0100062 OMIM:308350 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0010647 spermatogenic failure, X-linked, 2 MONDO:0004983 OMIM:309120 OMIMPS:258150 spermatogenic failure MONDO:0010653 Renpenning syndrome MONDO:0020119 OMIM:309500 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010654 Partington syndrome MONDO:0020119 OMIM:309510 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010656 intellectual disability, X-linked 1 MONDO:0019181 OMIM:309530 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:0016826 OMIM:309541 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:0019181 OMIM:309541 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010658 syndromic X-linked intellectual disability 12 MONDO:0020119 OMIM:309545 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010659 FRAXE intellectual disability MONDO:0019181 OMIM:309548 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010660 intellectual disability, X-linked 9 MONDO:0019181 OMIM:309549 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010661 severe X-linked intellectual disability, Gustavson type MONDO:0020119 OMIM:309555 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010664 syndromic X-linked intellectual disability Snyder type MONDO:0020119 OMIM:309583 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010665 Wilson-Turner syndrome MONDO:0020119 OMIM:309585 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010667 Prieto syndrome MONDO:0020119 OMIM:309610 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010671 microphthalmia, syndromic 1 MONDO:0016073 OMIM:309800 OMIMPS:309800 syndromic microphthalmia MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019249 OMIM:309900 OMIMPS:607014 mucopolysaccharidosis MONDO:0010683 X-linked myotubular myopathy MONDO:0018947 OMIM:310400 OMIMPS:160150 centronuclear myopathy MONDO:0010685 myopia 1, X-linked MONDO:0001384 OMIM:310460 OMIMPS:160700 myopia MONDO:0010693 nystagmus 1, congenital, X-linked MONDO:0005712 OMIM:310700 OMIMPS:310700 congenital nystagmus MONDO:0010698 optic atrophy 2 MONDO:0043878 OMIM:311050 OMIMPS:165500 hereditary optic atrophy MONDO:0010706 premature ovarian failure 1 MONDO:0019852 OMIM:311360 OMIMPS:311360 inherited primary ovarian failure MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0019046 OMIM:312080 OMIMPS:312080 leukodystrophy MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency MONDO:0019169 OMIM:312170 OMIMPS:312170 pyruvate dehydrogenase deficiency MONDO:0010723 retinitis pigmentosa 2 MONDO:0019200 OMIM:312600 OMIMPS:268000 retinitis pigmentosa MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0019064 OMIM:312920 OMIMPS:303350 hereditary spastic paraplegia MONDO:0010736 split hand-foot malformation 2 MONDO:0016576 OMIM:313350 OMIMPS:183600 split hand-foot malformation MONDO:0010738 spondylometaphyseal dysplasia, Golden type MONDO:0016763 OMIM:313420 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0010741 tooth agenesis, selective, X-linked, 1 MONDO:0005486 OMIM:313500 OMIMPS:106600 tooth agenesis MONDO:0010743 thrombocytopenia 1 MONDO:0100241 OMIM:313900 OMIMPS:313900 inherited thrombocytopenia MONDO:0010758 Wieacker-Wolff syndrome MONDO:0025445 OMIM:314580 OMIMPS:314580 Wieacker-Wolff syndrome (spectrum) MONDO:0010761 retinitis pigmentosa Y-linked MONDO:0019200 OMIM:400004 OMIMPS:268000 retinitis pigmentosa MONDO:0010763 spermatogenic failure, Y-linked, 1 MONDO:0004983 OMIM:400042 OMIMPS:258150 spermatogenic failure MONDO:0010764 hearing loss, Y-linked 1 MONDO:0033304 OMIM:400043 OMIMPS:400043 nonsyndromic deafness, Y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 MONDO:0004983 OMIM:415000 OMIMPS:258150 spermatogenic failure MONDO:0010806 retinitis pigmentosa 13 MONDO:0019200 OMIM:600059 OMIMPS:268000 retinitis pigmentosa MONDO:0010807 autosomal recessive nonsyndromic hearing loss 2 MONDO:0019588 OMIM:600060 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010817 autosomal dominant nonsyndromic hearing loss 2A MONDO:0019587 OMIM:600101 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0010818 retinitis pigmentosa 12 MONDO:0019200 OMIM:600105 OMIMPS:268000 retinitis pigmentosa MONDO:0010822 Warburg micro syndrome 1 MONDO:0016649 OMIM:600118 OMIMPS:600118 Warburg micro syndrome MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:0015776 OMIM:600121 OMIMPS:215100 rhizomelic chondrodysplasia punctata MONDO:0010827 retinitis pigmentosa 14 MONDO:0019200 OMIM:600132 OMIMPS:268000 retinitis pigmentosa MONDO:0010828 retinitis pigmentosa 11 MONDO:0019200 OMIM:600138 OMIMPS:268000 retinitis pigmentosa MONDO:0010832 Bardet-Biedl syndrome 3 MONDO:0015229 OMIM:600151 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0010836 nanophthalmos 1 MONDO:0005514 OMIM:600165 OMIMPS:600165 nanophthalmia MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 MONDO:0015362 OMIM:600175 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0010846 exostoses, multiple, type III MONDO:0005508 OMIM:600209 OMIMPS:133700 hereditary multiple osteochondromas MONDO:0010860 autosomal recessive nonsyndromic hearing loss 3 MONDO:0019588 OMIM:600316 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010878 hereditary spastic paraplegia 6 MONDO:0019064 OMIM:600363 OMIMPS:303350 hereditary spastic paraplegia MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 MONDO:0019180 OMIM:600376 OMIMPS:187300 hereditary hemorrhagic telangiectasia MONDO:0010893 malignant hyperthermia, susceptibility to, 4 MONDO:0800188 OMIM:600467 OMIMPS:145600 malignant hyperthermia, susceptibility to MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 MONDO:0000030 OMIM:600513 OMIMPS:600513 sleep-related hypermotor epilepsy MONDO:0010905 cone-rod dystrophy 1 MONDO:0015993 OMIM:600624 OMIMPS:120970 cone-rod dystrophy MONDO:0010909 UV-sensitive syndrome 1 MONDO:0015797 OMIM:600630 OMIMPS:600630 UV-sensitive syndrome MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement MONDO:0007614 OMIM:600638 OMIMPS:135700 congenital fibrosis of extraocular muscles MONDO:0010915 autosomal dominant nonsyndromic hearing loss 4A MONDO:0019587 OMIM:600652 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0010926 familial hypocalciuric hypercalcemia 3 MONDO:0018458 OMIM:600740 OMIMPS:145980 familial hypocalciuric hypercalcemia MONDO:0010933 autosomal recessive nonsyndromic hearing loss 4 MONDO:0019588 OMIM:600791 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010936 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 MONDO:0005144 OMIM:600795 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency MONDO:0031520 OMIM:600802 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0010939 low phospholipid associated cholelithiasis MONDO:0700225 OMIM:600803 OMIMPS:600803 hereditary gallbladder disorder MONDO:0010945 retinitis pigmentosa 17 MONDO:0019200 OMIM:600852 OMIMPS:268000 retinitis pigmentosa MONDO:0010946 hypertrophic cardiomyopathy 6 MONDO:0024573 OMIM:600858 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0010953 Fanconi anemia complementation group E MONDO:0019391 OMIM:600901 OMIMPS:227650 Fanconi anemia MONDO:0010958 cardiac arrhythmia, ankyrin-B-related MONDO:0019171 OMIM:600919 OMIMPS:192500 familial long QT syndrome MONDO:0010963 autosomal dominant nonsyndromic hearing loss 6 MONDO:0019587 OMIM:600965 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0010965 autosomal recessive nonsyndromic hearing loss 6 MONDO:0019588 OMIM:600971 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010966 achondrogenesis type IB MONDO:0019648 OMIM:600972 OMIMPS:200600 achondrogenesis MONDO:0010967 autosomal recessive nonsyndromic hearing loss 7 MONDO:0019588 OMIM:600974 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010969 cone-rod dystrophy 5 MONDO:0015993 OMIM:600977 OMIMPS:120970 cone-rod dystrophy MONDO:0010973 autosomal dominant nonsyndromic hearing loss 5 MONDO:0019587 OMIM:600994 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MONDO:0017610 OMIM:601001 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0010985 epilepsy, familial adult myoclonic, 1 MONDO:0000160 OMIM:601068 OMIMPS:601068 epilepsy, familial adult myoclonic MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0019588 OMIM:601071 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010986 autosomal recessive nonsyndromic hearing loss 9 MONDO:0021944 OMIM:601071 OMIMPS:609129 auditory neuropathy MONDO:0010987 autosomal recessive nonsyndromic hearing loss 8 MONDO:0019588 OMIM:601072 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0010997 supranuclear palsy, progressive, 1 MONDO:0019037 OMIM:601104 OMIMPS:601104 progressive supranuclear palsy MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0005500 OMIM:601110 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011001 Brugada syndrome 1 MONDO:0015263 OMIM:601144 OMIMPS:601144 Brugada syndrome MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A MONDO:0015626 OMIM:601152 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0011010 Matthew-Wood syndrome MONDO:0016073 OMIM:601186 OMIMPS:309800 syndromic microphthalmia MONDO:0011012 African iron overload MONDO:0006507 OMIM:601195 OMIMPS:235200 hereditary hemochromatosis MONDO:0011013 autosomal dominant hypocalcemia 1 MONDO:0018543 OMIM:601198 OMIMPS:601198 autosomal dominant hypocalcemia MONDO:0011026 autosomal recessive congenital ichthyosis 4A MONDO:0017265 OMIM:601277 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F MONDO:0015152 OMIM:601287 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0011031 autosomal dominant nonsyndromic hearing loss 10 MONDO:0019587 OMIM:601316 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011032 autosomal dominant nonsyndromic hearing loss 11 MONDO:0019587 OMIM:601317 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011045 MMEP syndrome MONDO:0016073 OMIM:601349 OMIMPS:309800 syndromic microphthalmia MONDO:0011056 Wilms tumor 4 MONDO:0003321 OMIM:601363 OMIMPS:194070 hereditary Wilms tumor MONDO:0011058 autosomal dominant nonsyndromic hearing loss 9 MONDO:0019587 OMIM:601369 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011067 autosomal recessive nonsyndromic hearing loss 12 MONDO:0019588 OMIM:601386 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011070 van Maldergem syndrome 1 MONDO:0017813 OMIM:601390 OMIMPS:601390 van Maldergem syndrome MONDO:0011074 autosomal dominant nonsyndromic hearing loss 7 MONDO:0019587 OMIM:601412 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011075 retinitis pigmentosa 18 MONDO:0019200 OMIM:601414 OMIMPS:268000 retinitis pigmentosa MONDO:0011076 myofibrillar myopathy 1 MONDO:0018943 OMIM:601419 OMIMPS:601419 myofibrillar myopathy MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:0031520 OMIM:601457 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0011087 inflammatory bowel disease 2 MONDO:0005265 OMIM:601458 OMIMPS:266600 inflammatory bowel disease MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0019249 OMIM:601492 OMIMPS:607014 mucopolysaccharidosis MONDO:0011094 dilated cardiomyopathy 1C MONDO:0018901 OMIM:601493 OMIMPS:604169 left ventricular noncompaction MONDO:0011094 dilated cardiomyopathy 1C MONDO:0024573 OMIM:601493 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0011095 dilated cardiomyopathy 1D MONDO:0018901 OMIM:601494 OMIMPS:604169 left ventricular noncompaction MONDO:0011097 Axenfeld-Rieger syndrome type 2 MONDO:0019187 OMIM:601499 OMIMPS:180500 Axenfeld-Rieger syndrome MONDO:0011102 autosomal dominant nonsyndromic hearing loss 12 MONDO:0019587 OMIM:601543 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011103 autosomal dominant nonsyndromic hearing loss 3A MONDO:0019587 OMIM:601544 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011104 cataract 3 multiple types MONDO:0005129 OMIM:601547 OMIMPS:116200 cataract MONDO:0011112 Wilms tumor 5 MONDO:0003321 OMIM:601583 OMIMPS:194070 hereditary Wilms tumor MONDO:0011121 paragangliomas 2 MONDO:0000448 OMIM:601650 OMIMPS:168000 paraganglioma MONDO:0011136 Quebec platelet disorder MONDO:0000009 OMIM:601709 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0011137 retinitis pigmentosa 19 MONDO:0019200 OMIM:601718 OMIMPS:268000 retinitis pigmentosa MONDO:0011143 cone-rod dystrophy 6 MONDO:0015993 OMIM:601777 OMIMPS:120970 cone-rod dystrophy MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:0015762 OMIM:601847 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0011159 autosomal dominant nonsyndromic hearing loss 13 MONDO:0019587 OMIM:601868 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011160 autosomal recessive nonsyndromic hearing loss 15 MONDO:0019588 OMIM:601869 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011163 malignant hyperthermia, susceptibility to, 5 MONDO:0800188 OMIM:601887 OMIMPS:145600 malignant hyperthermia, susceptibility to MONDO:0011164 malignant hyperthermia, susceptibility to, 6 MONDO:0800188 OMIM:601888 OMIMPS:145600 malignant hyperthermia, susceptibility to MONDO:0011165 glomerulopathy with fibronectin deposits 2 MONDO:0007671 OMIM:601894 OMIMPS:137950 fibronectin glomerulopathy MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G MONDO:0015152 OMIM:601954 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0011173 thrombocythemia 2 MONDO:0019111 OMIM:601977 OMIMPS:187950 familial thrombocytosis MONDO:0011181 fibrosis of extraocular muscles, congenital, 2 MONDO:0007614 OMIM:602078 OMIMPS:135700 congenital fibrosis of extraocular muscles MONDO:0011183 Paget disease of bone 2, early-onset MONDO:0005382 OMIM:602080 OMIMPS:167250 bone Paget disease MONDO:0011188 arrhythmogenic right ventricular dysplasia 3 MONDO:0016342 OMIM:602086 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0011189 arrhythmogenic right ventricular dysplasia 4 MONDO:0016342 OMIM:602087 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0011190 nephronophthisis 2 MONDO:0019005 OMIM:602088 OMIMPS:256100 nephronophthisis MONDO:0011192 autosomal recessive nonsyndromic hearing loss 18A MONDO:0019588 OMIM:602092 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011193 cone dystrophy 3 MONDO:0015993 OMIM:602093 OMIMPS:120970 cone-rod dystrophy MONDO:0011200 torsion dystonia 7 MONDO:0044807 OMIM:602124 OMIMPS:128100 inherited dystonia MONDO:0011201 tremor, hereditary essential, 2 MONDO:0003233 OMIM:602134 OMIMPS:190300 essential tremor MONDO:0011211 axial spondylometaphyseal dysplasia MONDO:0016763 OMIM:602271 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:0015762 OMIM:602347 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0011218 autosomal recessive congenital ichthyosis 11 MONDO:0017265 OMIM:602400 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0011219 Fried's tooth and nail syndrome MONDO:0019287 OMIM:602401 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0011223 amyotrophic lateral sclerosis type 4 MONDO:0005144 OMIM:602433 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency MONDO:0031520 OMIM:602450 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0011226 autosomal dominant nonsyndromic hearing loss 15 MONDO:0019587 OMIM:602459 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011232 migraine, familial hemiplegic, 2 MONDO:0000700 OMIM:602481 OMIMPS:141500 familial hemiplegic migraine MONDO:0011233 Axenfeld-Rieger syndrome type 3 MONDO:0019187 OMIM:602482 OMIMPS:180500 Axenfeld-Rieger syndrome MONDO:0011234 auriculocondylar syndrome 1 MONDO:0000107 OMIM:602483 OMIMPS:602483 auriculocondylar syndrome MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0005500 OMIM:602579 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011258 branchiootic syndrome 1 MONDO:0018878 OMIM:602588 OMIMPS:602588 branchiootic syndrome MONDO:0011259 retinitis pigmentosa 22 MONDO:0019200 OMIM:602594 OMIMPS:268000 retinitis pigmentosa MONDO:0011265 tooth agenesis, selective, 2 MONDO:0005486 OMIM:602639 OMIMPS:106600 tooth agenesis MONDO:0011266 myotonic dystrophy type 2 MONDO:0016107 OMIM:602668 OMIMPS:160900 myotonic dystrophy MONDO:0011269 psoriasis 2 MONDO:0005083 OMIM:602723 OMIMPS:177900 psoriasis MONDO:0011272 retinitis pigmentosa 25 MONDO:0019200 OMIM:602772 OMIMPS:268000 retinitis pigmentosa MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type MONDO:0019696 OMIM:602875 OMIMPS:602875 acromesomelic dysplasia MONDO:0011276 orofacial cleft 2 MONDO:0000358 OMIM:602966 OMIMPS:119530 orofacial cleft MONDO:0011279 autosomal recessive nonsyndromic hearing loss 17 MONDO:0019588 OMIM:603010 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011281 congenital myasthenic syndrome 5 MONDO:0018940 OMIM:603034 OMIMPS:601462 congenital myasthenic syndrome MONDO:0011283 mitochondrial DNA depletion syndrome 1 MONDO:0018158 OMIM:603041 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0011285 age related macular degeneration 1 MONDO:0005150 OMIM:603075 OMIMPS:603075 age-related macular degeneration MONDO:0011286 autosomal recessive nonsyndromic hearing loss 13 MONDO:0019588 OMIM:603098 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0005500 OMIM:603147 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011296 Meckel syndrome, type 2 MONDO:0018921 OMIM:603194 OMIMPS:249000 Meckel syndrome MONDO:0011297 autosomal dominant nocturnal frontal lobe epilepsy 2 MONDO:0000030 OMIM:603204 OMIMPS:600513 sleep-related hypermotor epilepsy MONDO:0011300 myopia 3, autosomal dominant MONDO:0001384 OMIM:603221 OMIMPS:160700 myopia MONDO:0011303 focal segmental glomerulosclerosis 1 MONDO:0005363 OMIM:603278 OMIMPS:603278 inherited focal segmental glomerulosclerosis MONDO:0011304 cerebral cavernous malformation 2 MONDO:0031037 OMIM:603284 OMIMPS:116860 famililal cerebral cavernous malformations MONDO:0011305 cerebral cavernous malformation 3 MONDO:0031037 OMIM:603285 OMIMPS:116860 famililal cerebral cavernous malformations MONDO:0011313 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 MONDO:0019375 OMIM:603387 OMIMPS:603387 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0011325 Fanconi anemia complementation group F MONDO:0019391 OMIM:603467 OMIMPS:227650 Fanconi anemia MONDO:0011335 spondyloepimetaphyseal dysplasia with multiple dislocations MONDO:0019675 OMIM:603546 OMIMPS:271640 spondyloepimetaphyseal dysplasia with joint laxity MONDO:0011336 familial hemophagocytic lymphohistiocytosis 4 MONDO:0015541 OMIM:603552 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0011337 familial hemophagocytic lymphohistiocytosis 2 MONDO:0015541 OMIM:603553 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0011338 Omenn syndrome MONDO:0031520 OMIM:603554 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0005501 OMIM:603585 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0011346 xanthinuria type II MONDO:0018106 OMIM:603592 OMIMPS:278300 hereditary xanthinuria MONDO:0011350 autosomal dominant nonsyndromic hearing loss 17 MONDO:0019587 OMIM:603622 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011351 autosomal recessive nonsyndromic hearing loss 21 MONDO:0019588 OMIM:603629 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011355 cone-rod dystrophy 7 MONDO:0015993 OMIM:603649 OMIMPS:120970 cone-rod dystrophy MONDO:0011360 autosomal recessive nonsyndromic hearing loss 14 MONDO:0019588 OMIM:603678 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011364 autosomal recessive nonsyndromic hearing loss 16 MONDO:0019588 OMIM:603720 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011369 hypercholesterolemia, autosomal dominant, 3 MONDO:0005439 OMIM:603776 OMIMPS:143890 familial hypercholesterolemia MONDO:0011377 long QT syndrome 3 MONDO:0019171 OMIM:603830 OMIMPS:192500 familial long QT syndrome MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 MONDO:0000065 OMIM:603933 OMIMPS:603933 microvascular complications of diabetes, susceptibility MONDO:0011389 autosomal dominant nonsyndromic hearing loss 16 MONDO:0019587 OMIM:603964 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011390 focal segmental glomerulosclerosis 2 MONDO:0005363 OMIM:603965 OMIMPS:603278 inherited focal segmental glomerulosclerosis MONDO:0011392 autosomal recessive nonsyndromic hearing loss 20 MONDO:0019588 OMIM:604060 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011395 cone-rod dystrophy 3 MONDO:0015993 OMIM:604116 OMIMPS:120970 cone-rod dystrophy MONDO:0011403 left ventricular noncompaction 1 MONDO:0018901 OMIM:604169 OMIMPS:604169 left ventricular noncompaction MONDO:0011408 hereditary spastic paraplegia 10 MONDO:0019064 OMIM:604187 OMIMPS:303350 hereditary spastic paraplegia MONDO:0011413 cataract 9 multiple types MONDO:0005129 OMIM:604219 OMIMPS:116200 cataract MONDO:0011414 Peters anomaly MONDO:0019503 OMIM:604229 OMIMPS:107250 anterior segment dysgenesis MONDO:0011415 Leber congenital amaurosis 3 MONDO:0018998 OMIM:604232 OMIMPS:204000 Leber congenital amaurosis MONDO:0011416 generalized epilepsy with febrile seizures plus, type 1 MONDO:0018214 OMIM:604233 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0011417 hemochromatosis type 3 MONDO:0006507 OMIM:604250 OMIMPS:235200 hereditary hemochromatosis MONDO:0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 MONDO:0014471 OMIM:604273 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0015152 OMIM:604286 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0011435 microcephaly 2, primary, autosomal recessive, with or without cortical malformations MONDO:0016660 OMIM:604317 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 MONDO:0015363 OMIM:604320 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011437 microcephaly 4, primary, autosomal recessive MONDO:0016660 OMIM:604321 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0011442 advanced sleep phase syndrome 1 MONDO:0015609 OMIM:604348 OMIMPS:604348 advanced sleep phase syndrome MONDO:0011443 febrile seizures, familial, 4 MONDO:0000032 OMIM:604352 OMIMPS:121210 febrile seizures, familial MONDO:0011444 Duane retraction syndrome 2 MONDO:0007473 OMIM:604356 OMIMPS:126800 Duane retraction syndrome MONDO:0011448 PPARG-related familial partial lipodystrophy MONDO:0020088 OMIM:604367 OMIMPS:151660 familial partial lipodystrophy MONDO:0011450 breast-ovarian cancer, familial, susceptibility to, 1 MONDO:0100526 OMIM:604370 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to MONDO:0011452 hypotrichosis 7 MONDO:0003037 OMIM:604379 OMIMPS:605389 hypotrichosis MONDO:0011456 nephronophthisis 3 MONDO:0019005 OMIM:604387 OMIMPS:256100 nephronophthisis MONDO:0011458 Leber congenital amaurosis 4 MONDO:0018998 OMIM:604393 OMIMPS:204000 Leber congenital amaurosis MONDO:0011459 arrhythmogenic right ventricular dysplasia 5 MONDO:0016342 OMIM:604400 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 MONDO:0016342 OMIM:604401 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 MONDO:0000032 OMIM:604403 OMIMPS:121210 febrile seizures, familial MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 MONDO:0018214 OMIM:604403 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0011471 inflammatory bowel disease 3 MONDO:0005265 OMIM:604519 OMIMPS:266600 inflammatory bowel disease MONDO:0011473 Leber congenital amaurosis 5 MONDO:0018998 OMIM:604537 OMIMPS:204000 Leber congenital amaurosis MONDO:0011474 progressive familial heart block type IB MONDO:0019490 OMIM:604559 OMIMPS:113900 progressive familial heart block MONDO:0011477 tooth agenesis, selective, 3 MONDO:0005486 OMIM:604625 OMIMPS:106600 tooth agenesis MONDO:0011480 autosomal dominant nonsyndromic hearing loss 20 MONDO:0019587 OMIM:604717 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011484 catecholaminergic polymorphic ventricular tachycardia 1 MONDO:0017990 OMIM:604772 OMIMPS:604772 catecholaminergic polymorphic ventricular tachycardia MONDO:0011485 autosomal recessive congenital ichthyosis 5 MONDO:0017265 OMIM:604777 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0011488 microcephaly 3, primary, autosomal recessive MONDO:0016660 OMIM:604804 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0011493 Stickler syndrome type 2 MONDO:0019354 OMIM:604841 OMIMPS:108300 Stickler syndrome MONDO:0011503 cortisone reductase deficiency 1 MONDO:0000193 OMIM:604931 OMIMPS:604931 cortisone reductase deficiency MONDO:0011519 autosomal dominant nonsyndromic hearing loss 23 MONDO:0019587 OMIM:605192 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011521 inflammatory bowel disease 7 MONDO:0005265 OMIM:605225 OMIMPS:266600 inflammatory bowel disease MONDO:0011522 hereditary spastic paraplegia 14 MONDO:0019064 OMIM:605229 OMIMPS:303350 hereditary spastic paraplegia MONDO:0011523 Bardet-Biedl syndrome 6 MONDO:0015229 OMIM:605231 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0011527 Charcot-Marie-Tooth disease type 4E MONDO:0033352 OMIM:605253 OMIMPS:605253 neuropathy, congenital hypomelinating MONDO:0011528 hyper-IgM syndrome type 2 MONDO:0003947 OMIM:605258 OMIMPS:308230 hyper-IgM syndrome MONDO:0011531 Noonan syndrome 2 MONDO:0018997 OMIM:605275 OMIMPS:163950 Noonan syndrome MONDO:0011532 hereditary spastic paraplegia 13 MONDO:0019064 OMIM:605280 OMIMPS:303350 hereditary spastic paraplegia MONDO:0011535 split hand-foot malformation 4 MONDO:0016576 OMIM:605289 OMIMPS:183600 split hand-foot malformation MONDO:0011536 optic atrophy 4 MONDO:0043878 OMIM:605293 OMIMPS:165500 hereditary optic atrophy MONDO:0011539 nemaline myopathy 5 MONDO:0018958 OMIM:605355 OMIMPS:161800 nemaline myopathy MONDO:0011541 dilated cardiomyopathy 1J MONDO:0016333 OMIM:605362 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0011544 paragangliomas 3 MONDO:0000448 OMIM:605373 OMIMPS:168000 paraganglioma MONDO:0011545 autosomal dominant nocturnal frontal lobe epilepsy 3 MONDO:0000030 OMIM:605375 OMIMPS:600513 sleep-related hypermotor epilepsy MONDO:0011546 heterotaxy, visceral, 2, autosomal MONDO:0018677 OMIM:605376 OMIMPS:306955 visceral heterotaxy MONDO:0011549 hypotrichosis 1 MONDO:0003037 OMIM:605389 OMIMPS:605389 hypotrichosis MONDO:0011553 autosomal recessive nonsyndromic hearing loss 26 MONDO:0019588 OMIM:605428 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 MONDO:0019008 OMIM:605479 OMIMPS:243300 benign recurrent intrahepatic cholestasis MONDO:0011563 fibromatosis, gingival, 2 MONDO:0016070 OMIM:605544 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0011564 cone-rod dystrophy 8 MONDO:0015993 OMIM:605549 OMIMPS:120970 cone-rod dystrophy MONDO:0011565 metabolic syndrome X MONDO:0000816 OMIM:605552 OMIMPS:605552 abdominal obesity-metabolic syndrome MONDO:0011566 abdominal obesity-metabolic syndrome quantitative trait locus 2 MONDO:0000816 OMIM:605572 OMIMPS:605552 abdominal obesity-metabolic syndrome MONDO:0011568 autosomal dominant nonsyndromic hearing loss 25 MONDO:0019587 OMIM:605583 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011576 familial hyperaldosteronism type II MONDO:0016525 OMIM:605635 OMIMPS:103900 familial hyperaldosteronism MONDO:0011577 myopathy, proximal, and ophthalmoplegia MONDO:0019952 OMIM:605637 OMIMPS:117000 congenital myopathy MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 MONDO:0017338 OMIM:605711 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0011584 Fanconi anemia complementation group D1 MONDO:0019391 OMIM:605724 OMIMPS:227650 Fanconi anemia MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 MONDO:0015363 OMIM:605726 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011586 otosclerosis 2 MONDO:0005349 OMIM:605727 OMIMPS:166800 otosclerosis MONDO:0011588 platelet-type bleeding disorder 12 MONDO:0000009 OMIM:605735 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0011589 microphthalmia with coloboma 2 MONDO:0000170 OMIM:605738 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0011592 exudative vitreoretinopathy 3 MONDO:0019516 OMIM:605750 OMIMPS:133780 exudative vitreoretinopathy MONDO:0011593 seizures, benign familial infantile, 2 MONDO:0017615 OMIM:605751 OMIMPS:601764 benign familial infantile epilepsy MONDO:0011595 nonsyndromic congenital nail disorder 7 MONDO:0019284 OMIM:605779 OMIMPS:161050 inherited isolated nail anomaly MONDO:0011596 dermatitis, atopic, 2 MONDO:0100178 OMIM:605803 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011597 dermatitis, atopic, 3 MONDO:0100178 OMIM:605804 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011598 dermatitis, atopic, 4 MONDO:0100178 OMIM:605805 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011602 autosomal recessive nonsyndromic hearing loss 27 MONDO:0019588 OMIM:605818 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011608 dermatitis, atopic, 5 MONDO:0100178 OMIM:605844 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011609 dermatitis, atopic, 6 MONDO:0100178 OMIM:605845 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011616 holoprosencephaly 6 MONDO:0016296 OMIM:605934 OMIMPS:236100 holoprosencephaly MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 MONDO:0019587 OMIM:606012 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0005501 OMIM:606056 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0011630 retinitis pigmentosa 28 MONDO:0019200 OMIM:606068 OMIMPS:268000 retinitis pigmentosa MONDO:0011631 hemochromatosis type 4 MONDO:0006507 OMIM:606069 OMIMPS:235200 hereditary hemochromatosis MONDO:0011632 amyotrophic lateral sclerosis type 21 MONDO:0005144 OMIM:606070 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0011635 goiter, multinodular 3 MONDO:0000334 OMIM:606082 OMIMPS:138800 multinodular goiter MONDO:0011636 Diamond-Blackfan anemia 2 MONDO:0015253 OMIM:606129 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0011638 neuroferritinopathy MONDO:0018307 OMIM:606159 OMIMPS:234200 neurodegeneration with brain iron accumulation MONDO:0011639 Diamond-Blackfan anemia 15 with mandibulofacial dysostosis MONDO:0015253 OMIM:606164 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0011656 paget disease of bone 4 MONDO:0005382 OMIM:606263 OMIMPS:167250 bone Paget disease MONDO:0011657 autosomal dominant nonsyndromic hearing loss 24 MONDO:0019587 OMIM:606282 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011659 heterotaxy, visceral, 3, autosomal MONDO:0018677 OMIM:606325 OMIMPS:306955 visceral heterotaxy MONDO:0011660 autosomal dominant nonsyndromic hearing loss 22 MONDO:0019587 OMIM:606346 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011661 inflammatory bowel disease 5 MONDO:0005265 OMIM:606348 OMIMPS:266600 inflammatory bowel disease MONDO:0011664 immunodeficiency due to CD25 deficiency MONDO:0021094 OMIM:606367 OMIMPS:300755 immunodeficiency disease MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0020066 OMIM:606408 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0011673 autosomal dominant nonsyndromic hearing loss 30 MONDO:0019587 OMIM:606451 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011681 episodic ataxia type 4 MONDO:0016227 OMIM:606552 OMIMPS:160120 hereditary episodic ataxia MONDO:0011682 episodic ataxia type 3 MONDO:0016227 OMIM:606554 OMIMPS:160120 hereditary episodic ataxia MONDO:0011683 oculocutaneous albinism type 4 MONDO:0018910 OMIM:606574 OMIMPS:203100 oculocutaneous albinism MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 MONDO:0000172 OMIM:606612 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B MONDO:0011691 amyotrophic lateral sclerosis type 3 MONDO:0005144 OMIM:606640 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0011699 inflammatory bowel disease 8 MONDO:0005265 OMIM:606668 OMIMPS:266600 inflammatory bowel disease MONDO:0011700 inflammatory bowel disease 6 MONDO:0005265 OMIM:606674 OMIMPS:266600 inflammatory bowel disease MONDO:0011701 inflammatory bowel disease 4 MONDO:0005265 OMIM:606675 OMIMPS:266600 inflammatory bowel disease MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 MONDO:0019587 OMIM:606705 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011709 split hand-foot malformation 5 MONDO:0016576 OMIM:606708 OMIMPS:183600 split hand-foot malformation MONDO:0011710 specific language impairment 1 MONDO:0000724 OMIM:606711 OMIMPS:606711 specific language impairment MONDO:0011711 specific language impairment 2 MONDO:0000724 OMIM:606712 OMIMPS:606711 specific language impairment MONDO:0011715 Seckel syndrome 2 MONDO:0019342 OMIM:606744 OMIMPS:210600 Seckel syndrome MONDO:0011718 primary ciliary dyskinesia 2 MONDO:0016575 OMIM:606763 OMIMPS:244400 primary ciliary dyskinesia MONDO:0011720 spermatogenic failure 3 MONDO:0004983 OMIM:606766 OMIMPS:258150 spermatogenic failure MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0018949 OMIM:606768 OMIMPS:160500 distal myopathy MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0000188 OMIM:606777 OMIMPS:606777 GLUT1 deficiency syndrome MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0003947 OMIM:606843 OMIMPS:308230 hyper-IgM syndrome MONDO:0011752 nephronophthisis 4 MONDO:0019005 OMIM:606966 OMIMPS:256100 nephronophthisis MONDO:0011755 senior-loken syndrome 3 MONDO:0017842 OMIM:606995 OMIMPS:266900 Senior-Loken syndrome MONDO:0011756 Senior-Loken syndrome 4 MONDO:0017842 OMIM:606996 OMIMPS:266900 Senior-Loken syndrome MONDO:0011761 autosomal dominant nonsyndromic hearing loss 21 MONDO:0019587 OMIM:607017 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011762 autosomal recessive nonsyndromic hearing loss 22 MONDO:0019588 OMIM:607039 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011765 multiple epiphyseal dysplasia type 5 MONDO:0016648 OMIM:607078 OMIMPS:132400 multiple epiphyseal dysplasia MONDO:0011767 autosomal recessive nonsyndromic hearing loss 31 MONDO:0019588 OMIM:607084 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011770 aortic aneurysm, familial thoracic 2 MONDO:0019625 OMIM:607087 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 MONDO:0015363 OMIM:607088 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0005501 OMIM:607091 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0011774 autosomal recessive nonsyndromic hearing loss 30 MONDO:0019588 OMIM:607101 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011780 specific language impairment 3 MONDO:0000724 OMIM:607134 OMIMPS:606711 specific language impairment MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0005500 OMIM:607143 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011784 Moyamoya disease 2 MONDO:0016820 OMIM:607151 OMIMPS:252350 Moyamoya disease MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0015152 OMIM:607155 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0011790 Amish lethal microcephaly MONDO:0000152 OMIM:607196 OMIMPS:249270 thiamine-responsive dysfunction syndrome MONDO:0011792 thyroid dyshormonogenesis 6 MONDO:0010132 OMIM:607200 OMIMPS:274400 familial thyroid dyshormonogenesis MONDO:0011799 autosomal recessive nonsyndromic hearing loss 33 MONDO:0019588 OMIM:607239 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011800 glioma susceptibility 4 MONDO:0100242 OMIM:607248 OMIMPS:137800 glioma susceptibility MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0020771 OMIM:607250 OMIMPS:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0019064 OMIM:607259 OMIMPS:303350 hereditary spastic paraplegia MONDO:0011814 Smith-McCort dysplasia 1 MONDO:0015799 OMIM:607326 OMIMPS:607326 Smith-McCort dysplasia MONDO:0011821 Meckel syndrome, type 3 MONDO:0018921 OMIM:607361 OMIMPS:249000 Meckel syndrome MONDO:0011822 Bartter disease type 3 MONDO:0015231 OMIM:607364 OMIMPS:601678 Bartter syndrome MONDO:0011826 glucocorticoid deficiency 2 MONDO:0008733 OMIM:607398 OMIMPS:202200 familial glucocorticoid deficiency MONDO:0011828 intellectual disability, autosomal recessive 2 MONDO:0019502 OMIM:607417 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0011829 coenzyme Q10 deficiency, primary, 1 MONDO:0018151 OMIM:607426 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0011831 arrhythmogenic right ventricular dysplasia 8 MONDO:0016342 OMIM:607450 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0011832 autosomal dominant nonsyndromic hearing loss 44 MONDO:0019587 OMIM:607453 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0015722 OMIM:607473 OMIMPS:277450 congenital vitamin K-dependent coagulation factors deficiency MONDO:0011841 biotin-responsive basal ganglia disease MONDO:0000152 OMIM:607483 OMIMPS:249270 thiamine-responsive dysfunction syndrome MONDO:0011843 hypertrophic cardiomyopathy 25 MONDO:0024573 OMIM:607487 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0011845 migraine with or without aura, susceptibility to, 3 MONDO:0100246 OMIM:607498 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0011847 migraine without aura, susceptibility to, 4 MONDO:0100246 OMIM:607501 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0011850 migraine with or without aura, susceptibility to, 5 MONDO:0100246 OMIM:607508 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0011851 migraine with or without aura, susceptibility to, 6 MONDO:0100246 OMIM:607516 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0011852 nonsyndromic congenital nail disorder 8 MONDO:0019284 OMIM:607523 OMIMPS:161050 inherited isolated nail anomaly MONDO:0011857 atrial fibrillation, familial, 3 MONDO:0018054 OMIM:607554 OMIMPS:608583 familial atrial fibrillation MONDO:0011864 immunodeficiency, common variable, 1 MONDO:0015517 OMIM:607594 OMIMPS:607594 common variable immunodeficiency MONDO:0011868 lethal congenital contracture syndrome 2 MONDO:0017436 OMIM:607598 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0011872 Griscelli syndrome type 2 MONDO:0018306 OMIM:607624 OMIMPS:214450 Griscelli syndrome MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 MONDO:1030001 OMIM:607628 OMIMPS:607631 epilepsy, juvenile absence, susceptibility to MONDO:0011877 autosomal dominant osteopetrosis 1 MONDO:0020645 OMIM:607634 OMIMPS:607634 autosomal dominant osteopetrosis MONDO:0011880 candidiasis, familial, 3 MONDO:0015279 OMIM:607644 OMIMPS:114580 chronic mucocutaneous candidiasis MONDO:0011888 immunodeficiency 67 MONDO:0021094 OMIM:607676 OMIMPS:300755 immunodeficiency disease MONDO:0011891 febrile seizures, familial, 8 MONDO:0000032 OMIM:607681 OMIMPS:121210 febrile seizures, familial MONDO:0011891 febrile seizures, familial, 8 MONDO:0010826 OMIM:607681 OMIMPS:600131 childhood absence epilepsy MONDO:0011891 febrile seizures, familial, 8 MONDO:0018214 OMIM:607681 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0011904 seizures, benign familial infantile, 3 MONDO:0017615 OMIM:607745 OMIMPS:601764 benign familial infantile epilepsy MONDO:0011906 congenital bile acid synthesis defect 1 MONDO:0018841 OMIM:607765 OMIMPS:607765 congenital bile acid synthesis defect MONDO:0011912 autosomal recessive nonsyndromic hearing loss 37 MONDO:0019588 OMIM:607821 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011915 mitral valve prolapse, myxomatous 2 MONDO:0008004 OMIM:607829 OMIMPS:157700 familial mitral valve prolapse MONDO:0011920 autosomal dominant nonsyndromic hearing loss 48 MONDO:0019587 OMIM:607841 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011924 panic disorder 2 MONDO:0031240 OMIM:607853 OMIMPS:167870 familial panic disorder MONDO:0011930 epilepsy, familial adult myoclonic, 2 MONDO:0000160 OMIM:607876 OMIMPS:601068 epilepsy, familial adult myoclonic MONDO:0011932 hypotrichosis 6 MONDO:0003037 OMIM:607903 OMIMPS:605389 hypotrichosis MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0005500 OMIM:607906 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011935 retinitis pigmentosa 30 MONDO:0019200 OMIM:607921 OMIMPS:268000 retinitis pigmentosa MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0016073 OMIM:607932 OMIMPS:309800 syndromic microphthalmia MONDO:0011937 peeling skin syndrome 4 MONDO:0019347 OMIM:607936 OMIMPS:270300 peeling skin syndrome MONDO:0011938 atrial septal defect 2 MONDO:0006664 OMIM:607941 OMIMPS:108800 atrial septal defect MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0016763 OMIM:607944 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0020135 OMIM:608027 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0015244 OMIM:608029 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0011951 amyotrophic lateral sclerosis type 6 MONDO:0005144 OMIM:608030 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0011952 amyotrophic lateral sclerosis type 7 MONDO:0005144 OMIM:608031 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0011953 familial acute necrotizing encephalopathy MONDO:0000166 OMIM:608033 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 MONDO:0024462 OMIM:608035 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 OMIM:608051 OMIMPS:136550 macular dystrophy, retinal MONDO:0011963 Joubert syndrome 2 MONDO:0018772 OMIM:608091 OMIMPS:213300 Joubert syndrome MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0005500 OMIM:608093 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011965 familial temporal lobe epilepsy 2 MONDO:0005115 OMIM:608096 OMIMPS:600512 temporal lobe epilepsy MONDO:0011966 periventricular heterotopia with microcephaly, autosomal recessive MONDO:0020341 OMIM:608097 OMIMPS:300049 periventricular nodular heterotopia MONDO:0011967 heterotopia, periventricular, associated with chromosome 5P anomalies MONDO:0020341 OMIM:608098 OMIMPS:300049 periventricular nodular heterotopia MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:0015152 OMIM:608099 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0005500 OMIM:608104 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0011971 hyper-IgM syndrome type 5 MONDO:0003947 OMIM:608106 OMIMPS:308230 hyper-IgM syndrome MONDO:0011974 retinitis pigmentosa 7 MONDO:0019200 OMIM:608133 OMIMPS:268000 retinitis pigmentosa MONDO:0011985 hyper-IgM syndrome type 4 MONDO:0003947 OMIM:608184 OMIMPS:308230 hyper-IgM syndrome MONDO:0011987 cone-rod dystrophy 13 MONDO:0015993 OMIM:608194 OMIMPS:120970 cone-rod dystrophy MONDO:0011990 seizures, benign familial neonatal, 3 MONDO:0016027 OMIM:608217 OMIMPS:121200 benign neonatal seizures MONDO:0011991 autosomal recessive nonsyndromic hearing loss 38 MONDO:0019588 OMIM:608219 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0011994 autosomal dominant nonsyndromic hearing loss 41 MONDO:0019587 OMIM:608224 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0019312 OMIM:608233 OMIMPS:203300 Hermansky-Pudlak syndrome MONDO:0011999 otosclerosis 3 MONDO:0005349 OMIM:608244 OMIMPS:166800 otosclerosis MONDO:0012002 autosomal recessive nonsyndromic hearing loss 40 MONDO:0019588 OMIM:608264 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012003 autosomal recessive nonsyndromic hearing loss 39 MONDO:0019588 OMIM:608265 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:0018096 OMIM:608328 OMIMPS:277600 Weill-Marchesani syndrome MONDO:0012015 nystagmus 3, congenital, autosomal dominant MONDO:0005712 OMIM:608345 OMIMPS:310700 congenital nystagmus MONDO:0012021 myopia 17, autosomal dominant MONDO:0001384 OMIM:608367 OMIMPS:160700 myopia MONDO:0012022 orofacial cleft 4 MONDO:0000358 OMIM:608371 OMIMPS:119530 orofacial cleft MONDO:0012023 autosomal dominant nonsyndromic hearing loss 49 MONDO:0019587 OMIM:608372 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012024 retinitis pigmentosa 26 MONDO:0019200 OMIM:608380 OMIMPS:268000 retinitis pigmentosa MONDO:0012025 branchiootic syndrome 3 MONDO:0018878 OMIM:608389 OMIMPS:602588 branchiootic syndrome MONDO:0012030 autosomal dominant nonsyndromic hearing loss 43 MONDO:0019587 OMIM:608394 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012031 platelet-type bleeding disorder 10 MONDO:0000009 OMIM:608404 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F MONDO:0015151 OMIM:608423 OMIMPS:603511 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0012037 intellectual disability, autosomal recessive 3 MONDO:0019502 OMIM:608443 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012040 inflammatory bowel disease 9 MONDO:0005265 OMIM:608448 OMIMPS:266600 inflammatory bowel disease MONDO:0012041 familial adenomatous polyposis 2 MONDO:0021055 OMIM:608456 OMIMPS:175100 classic familial adenomatous polyposis MONDO:0012045 myopia 5, autosomal dominant MONDO:0001384 OMIM:608474 OMIMPS:160700 myopia MONDO:0012049 orofaciodigital syndrome VII MONDO:0015375 OMIM:608518 OMIMPS:311200 orofaciodigital syndrome MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0005500 OMIM:608540 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0012053 aneurysm, intracranial berry, 2 MONDO:0016483 OMIM:608542 OMIMPS:105800 intracranial berry aneurysm MONDO:0012056 Leber congenital amaurosis 9 MONDO:0018998 OMIM:608553 OMIMPS:204000 Leber congenital amaurosis MONDO:0012060 autosomal recessive nonsyndromic hearing loss 35 MONDO:0019588 OMIM:608565 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012066 atrial fibrillation, familial, 1 MONDO:0018054 OMIM:608583 OMIMPS:608583 familial atrial fibrillation MONDO:0012069 keratoconus 3 MONDO:0015486 OMIM:608586 OMIMPS:148300 keratoconus MONDO:0012071 congenital generalized lipodystrophy type 1 MONDO:0006536 OMIM:608594 OMIMPS:608594 congenital generalized lipodystrophy MONDO:0012072 familial partial lipodystrophy, Kobberling type MONDO:0020088 OMIM:608600 OMIMPS:151660 familial partial lipodystrophy MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy MONDO:0016584 OMIM:608612 OMIMPS:248370 mandibuloacral dysplasia MONDO:0012077 amyotrophic lateral sclerosis type 8 MONDO:0005144 OMIM:608627 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0012078 Joubert syndrome 3 MONDO:0018772 OMIM:608629 OMIMPS:213300 Joubert syndrome MONDO:0012079 asperger syndrome, susceptibility to, 2 MONDO:0100440 OMIM:608631 OMIMPS:608638 Asperger syndrome, susceptibility to MONDO:0012082 asperger syndrome, susceptibility to, 1 MONDO:0100440 OMIM:608638 OMIMPS:608638 Asperger syndrome, susceptibility to MONDO:0012083 autosomal dominant nonsyndromic hearing loss 28 MONDO:0019587 OMIM:608641 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012085 primary ciliary dyskinesia 3 MONDO:0016575 OMIM:608644 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012086 autosomal dominant nonsyndromic hearing loss 31 MONDO:0019587 OMIM:608645 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012087 primary ciliary dyskinesia 4 MONDO:0016575 OMIM:608646 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012088 primary ciliary dyskinesia 5 MONDO:0016575 OMIM:608647 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012090 autosomal dominant nonsyndromic hearing loss 47 MONDO:0019587 OMIM:608652 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012091 autosomal recessive nonsyndromic hearing loss 32 MONDO:0019588 OMIM:608653 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 MONDO:0015364 OMIM:608654 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0012106 microcephaly 5, primary, autosomal recessive MONDO:0016660 OMIM:608716 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0012111 hypertrophic cardiomyopathy 8 MONDO:0024573 OMIM:608751 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0012112 hypertrophic cardiomyopathy 10 MONDO:0024573 OMIM:608758 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0005500 OMIM:608776 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0005501 OMIM:608779 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0012119 asperger syndrome, susceptibility to, 3 MONDO:0100440 OMIM:608781 OMIMPS:608638 Asperger syndrome, susceptibility to MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency MONDO:0019169 OMIM:608782 OMIMPS:312170 pyruvate dehydrogenase deficiency MONDO:0012121 otosclerosis 5 MONDO:0005349 OMIM:608787 OMIMPS:166800 otosclerosis MONDO:0012122 moyamoya disease 3 MONDO:0016820 OMIM:608796 OMIMPS:252350 Moyamoya disease MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0005500 OMIM:608799 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0015152 OMIM:608807 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0012135 restless legs syndrome, susceptibility to, 2 MONDO:0100170 OMIM:608831 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 MONDO:0000172 OMIM:608840 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B MONDO:0012139 macular dystrophy, retinal, 3 MONDO:0031166 OMIM:608850 OMIMPS:136550 macular dystrophy, retinal MONDO:0012145 macular degeneration, age-related, 3 MONDO:0005150 OMIM:608895 OMIMPS:603075 age-related macular degeneration MONDO:0012146 familial hemophagocytic lymphohistiocytosis 3 MONDO:0015541 OMIM:608898 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0012154 myopia 6 MONDO:0001384 OMIM:608908 OMIMPS:160700 myopia MONDO:0012158 keratoconus 2 MONDO:0015486 OMIM:608932 OMIMPS:148300 keratoconus MONDO:0012162 patterned macular dystrophy 2 MONDO:0020381 OMIM:608970 OMIMPS:169150 patterned macular dystrophy MONDO:0012163 immunodeficiency 104 MONDO:0031520 OMIM:608971 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0012167 atrial fibrillation, familial, 2 MONDO:0018054 OMIM:608988 OMIMPS:608583 familial atrial fibrillation MONDO:0012169 premature ovarian failure 3 MONDO:0019852 OMIM:608996 OMIMPS:311360 inherited primary ovarian failure MONDO:0012170 autosomal recessive nonsyndromic hearing loss 36 MONDO:0019588 OMIM:609006 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012175 cataract 28 MONDO:0005129 OMIM:609026 OMIMPS:116200 cataract MONDO:0012179 narcolepsy 3 MONDO:0100554 OMIM:609039 OMIMPS:161400 hereditary narcolepsy MONDO:0012180 arrhythmogenic right ventricular dysplasia 9 MONDO:0016342 OMIM:609040 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0012183 melanoma, cutaneous malignant, susceptibility to, 3 MONDO:0024462 OMIM:609048 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0012185 spondylometaphyseal dysplasia, A4 type MONDO:0016763 OMIM:609052 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0012186 Fanconi anemia complementation group I MONDO:0019391 OMIM:609053 OMIMPS:227650 Fanconi anemia MONDO:0012187 Fanconi anemia complementation group J MONDO:0019391 OMIM:609054 OMIMPS:227650 Fanconi anemia MONDO:0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness MONDO:0017610 OMIM:609057 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 MONDO:0000732 OMIM:609060 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G MONDO:0015151 OMIM:609115 OMIMPS:603511 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0012194 aneurysm, intracranial berry, 3 MONDO:0016483 OMIM:609122 OMIMPS:105800 intracranial berry aneurysm MONDO:0012195 arthrogryposis-severe scoliosis syndrome MONDO:0019942 OMIM:609128 OMIMPS:108120 distal arthrogryposis MONDO:0012196 autosomal dominant auditory neuropathy 1 MONDO:0021944 OMIM:609129 OMIMPS:609129 auditory neuropathy MONDO:0012199 posterior polymorphous corneal dystrophy 2 MONDO:0020364 OMIM:609140 OMIMPS:122000 posterior polymorphous corneal dystrophy MONDO:0012200 posterior polymorphous corneal dystrophy 3 MONDO:0020364 OMIM:609141 OMIMPS:122000 posterior polymorphous corneal dystrophy MONDO:0012205 autosomal dominant striatal neurodegeneration type 1 MONDO:0000211 OMIM:609161 OMIMPS:609161 striatal degeneration, autosomal dominant MONDO:0012210 migraine with aura, susceptibility to, 7 MONDO:0100246 OMIM:609179 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0005500 OMIM:609180 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0012212 Loeys-Dietz syndrome 1 MONDO:0018954 OMIM:609192 OMIMPS:609192 Loeys-Dietz syndrome MONDO:0012214 glucocorticoid deficiency 3 MONDO:0008733 OMIM:609197 OMIMPS:202200 familial glucocorticoid deficiency MONDO:0012215 myofibrillar myopathy 3 MONDO:0018943 OMIM:609200 OMIMPS:601419 myofibrillar myopathy MONDO:0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0044203 OMIM:609218 OMIMPS:136520 foveal hypoplasia MONDO:0012217 Bruck syndrome 2 MONDO:0017195 OMIM:609220 OMIMPS:259450 Bruck syndrome MONDO:0012220 Griscelli syndrome type 3 MONDO:0018306 OMIM:609227 OMIMPS:214450 Griscelli syndrome MONDO:0012224 febrile seizures, familial, 6 MONDO:0000032 OMIM:609253 OMIMPS:121210 febrile seizures, familial MONDO:0012225 Senior-Loken syndrome 5 MONDO:0017842 OMIM:609254 OMIMPS:266900 Senior-Loken syndrome MONDO:0012226 febrile seizures, familial, 5 MONDO:0000032 OMIM:609255 OMIMPS:121210 febrile seizures, familial MONDO:0012227 myopia 7 MONDO:0001384 OMIM:609256 OMIMPS:160700 myopia MONDO:0012228 myopia 8 MONDO:0001384 OMIM:609257 OMIMPS:160700 myopia MONDO:0012229 myopia 9 MONDO:0001384 OMIM:609258 OMIMPS:160700 myopia MONDO:0012230 myopia 10 MONDO:0001384 OMIM:609259 OMIMPS:160700 myopia MONDO:0012232 stuttering, familial persistent, 2 MONDO:0000723 OMIM:609261 OMIMPS:184450 stutter disorder MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 MONDO:0015244 OMIM:609270 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0012236 keratoconus 4 MONDO:0015486 OMIM:609271 OMIMPS:148300 keratoconus MONDO:0012245 developmental and epileptic encephalopathy, 3 MONDO:0100062 OMIM:609304 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0000173 OMIM:609308 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0015152 OMIM:609308 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0012249 Lynch syndrome 2 MONDO:0018630 OMIM:609310 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0012252 rhabdoid tumor predisposition syndrome 1 MONDO:0016473 OMIM:609322 OMIMPS:609322 familial rhabdoid tumor MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema MONDO:0017610 OMIM:609352 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c MONDO:0007614 OMIM:609384 OMIMPS:135700 congenital fibrosis of extraocular muscles MONDO:0012264 preeclampsia/eclampsia 2 MONDO:0005081 OMIM:609402 OMIMPS:189800 preeclampsia MONDO:0012265 preeclampsia/eclampsia 3 MONDO:0005081 OMIM:609403 OMIMPS:189800 preeclampsia MONDO:0012266 preeclampsia/eclampsia 4 MONDO:0005081 OMIM:609404 OMIMPS:189800 preeclampsia MONDO:0012267 holoprosencephaly 8 MONDO:0016296 OMIM:609408 OMIMPS:236100 holoprosencephaly MONDO:0012270 Tukel syndrome MONDO:0007614 OMIM:609428 OMIMPS:135700 congenital fibrosis of extraocular muscles MONDO:0012273 autosomal recessive nonsyndromic hearing loss 48 MONDO:0019588 OMIM:609439 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012274 acromesomelic dysplasia 3 MONDO:0019696 OMIM:609441 OMIMPS:602875 acromesomelic dysplasia MONDO:0012277 myofibrillar myopathy 4 MONDO:0018943 OMIM:609452 OMIMPS:601419 myofibrillar myopathy MONDO:0012278 supranuclear palsy, progressive, 2 MONDO:0019037 OMIM:609454 OMIMPS:601104 progressive supranuclear palsy MONDO:0012285 left ventricular noncompaction 2 MONDO:0018901 OMIM:609470 OMIMPS:604169 left ventricular noncompaction MONDO:0012289 myofibrillar myopathy 5 MONDO:0018943 OMIM:609524 OMIMPS:601419 myofibrillar myopathy MONDO:0012293 autosomal recessive nonsyndromic hearing loss 23 MONDO:0019588 OMIM:609533 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012299 nanophthalmos 2 MONDO:0005514 OMIM:609549 OMIMPS:600165 nanophthalmia MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0018158 OMIM:609560 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0012302 parietal foramina 3 MONDO:0018953 OMIM:609566 OMIMPS:168500 parietal foramina MONDO:0012303 migraine with or without aura, susceptibility to, 8 MONDO:0100246 OMIM:609570 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0012304 photoparoxysmal response 2 MONDO:0015643 OMIM:609572 OMIMPS:132100 photosensitive epilepsy MONDO:0012305 photoparoxysmal response 3 MONDO:0015643 OMIM:609573 OMIMPS:132100 photosensitive epilepsy MONDO:0012306 cardiomyopathy, familial restrictive, 2 MONDO:0016340 OMIM:609578 OMIMPS:115210 familial restrictive cardiomyopathy MONDO:0012308 Joubert syndrome with renal defect MONDO:0018772 OMIM:609583 OMIMPS:213300 Joubert syndrome MONDO:0012309 parietal foramina 2 MONDO:0018953 OMIM:609597 OMIMPS:168500 parietal foramina MONDO:0012312 short QT syndrome type 1 MONDO:0000453 OMIM:609620 OMIMPS:609620 short QT syndrome MONDO:0012313 short QT syndrome type 2 MONDO:0000453 OMIM:609621 OMIMPS:609620 short QT syndrome MONDO:0012314 short QT syndrome type 3 MONDO:0000453 OMIM:609622 OMIMPS:609620 short QT syndrome MONDO:0012316 Majeed syndrome MONDO:0009813 OMIM:609628 OMIMPS:609628 chronic recurrent multifocal osteomyelitis MONDO:0012320 migraine, familial hemiplegic, 3 MONDO:0000700 OMIM:609634 OMIMPS:141500 familial hemiplegic migraine MONDO:0012326 autosomal recessive nonsyndromic hearing loss 42 MONDO:0019588 OMIM:609646 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012327 autosomal recessive nonsyndromic hearing loss 46 MONDO:0019588 OMIM:609647 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012331 migraine with aura, susceptibility to, 9 MONDO:0100246 OMIM:609670 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0012333 autosomal recessive nonsyndromic hearing loss 53 MONDO:0019588 OMIM:609706 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012343 aortic aneurysm, familial abdominal, 2 MONDO:0007031 OMIM:609782 OMIMPS:100070 familial abdominal aortic aneurysm MONDO:0012345 acral peeling skin syndrome MONDO:0019347 OMIM:609796 OMIMPS:270300 peeling skin syndrome MONDO:0012346 generalized epilepsy with febrile seizures plus, type 4 MONDO:0018214 OMIM:609800 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0012353 erythrocytosis, familial, 3 MONDO:0001115 OMIM:609820 OMIMPS:133100 familial polycythemia MONDO:0012354 platelet-type bleeding disorder 8 MONDO:0000009 OMIM:609821 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0012355 autosomal recessive nonsyndromic hearing loss 28 MONDO:0019588 OMIM:609823 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012360 congenital nongoitrous hypothyroidism 3 MONDO:0000045 OMIM:609893 OMIMPS:275200 hypothyroidism, congenital, nongoitrous MONDO:0012363 retinitis pigmentosa 32 MONDO:0019200 OMIM:609913 OMIMPS:268000 retinitis pigmentosa MONDO:0012365 gallbladder disease 2 MONDO:0700225 OMIM:609918 OMIMPS:600803 hereditary gallbladder disorder MONDO:0012366 gallbladder disease 3 MONDO:0700225 OMIM:609919 OMIMPS:600803 hereditary gallbladder disorder MONDO:0012367 retinitis pigmentosa 31 MONDO:0019200 OMIM:609923 OMIMPS:268000 retinitis pigmentosa MONDO:0012370 autosomal recessive nonsyndromic hearing loss 51 MONDO:0019588 OMIM:609941 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012371 Noonan syndrome 3 MONDO:0018997 OMIM:609942 OMIMPS:163950 Noonan syndrome MONDO:0012375 autosomal recessive nonsyndromic hearing loss 47 MONDO:0019588 OMIM:609946 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012376 autosomal recessive nonsyndromic hearing loss 55 MONDO:0019588 OMIM:609952 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012377 asperger syndrome, susceptibility to, 4 MONDO:0100440 OMIM:609954 OMIMPS:608638 Asperger syndrome, susceptibility to MONDO:0012378 fibromatosis, gingival, 3 MONDO:0016070 OMIM:609955 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0012380 autosomal dominant nonsyndromic hearing loss 53 MONDO:0019587 OMIM:609965 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0021094 OMIM:609981 OMIMPS:300755 immunodeficiency disease MONDO:0012384 panic disorder 3 MONDO:0031240 OMIM:609985 OMIMPS:167870 familial panic disorder MONDO:0012388 myopia 11, autosomal dominant MONDO:0001384 OMIM:609994 OMIMPS:160700 myopia MONDO:0012389 myopia 12, autosomal dominant MONDO:0001384 OMIM:609995 OMIMPS:160700 myopia MONDO:0012394 multiple synostoses syndrome 2 MONDO:0017923 OMIM:610017 OMIMPS:186500 multiple synostoses syndrome MONDO:0012395 cataract 18 MONDO:0005129 OMIM:610019 OMIMPS:116200 cataract MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:0000904 OMIM:610031 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0012405 polyposis syndrome, hereditary mixed, 2 MONDO:0011023 OMIM:610069 OMIMPS:601228 hereditary mixed polyposis syndrome MONDO:0012408 microphthalmia, isolated, with coloboma 3 MONDO:0000170 OMIM:610092 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0012409 isolated microphthalmia 2 MONDO:0000062 OMIM:610093 OMIMPS:251600 isolated microphthalmia MONDO:0012411 giant axonal neuropathy 2 MONDO:0000128 OMIM:610100 OMIMPS:256850 giant axonal neuropathy MONDO:0012413 syndromic microphthalmia type 5 MONDO:0016073 OMIM:610125 OMIMPS:309800 syndromic microphthalmia MONDO:0012418 autosomal recessive nonsyndromic hearing loss 62 MONDO:0019588 OMIM:610143 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012419 age related macular degeneration 7 MONDO:0005150 OMIM:610149 OMIMPS:603075 age-related macular degeneration MONDO:0012420 autosomal recessive nonsyndromic hearing loss 49 MONDO:0019588 OMIM:610153 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012421 autosomal recessive nonsyndromic hearing loss 44 MONDO:0019588 OMIM:610154 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012425 corneal dystrophy, fuchs endothelial, 2 MONDO:0005321 OMIM:610158 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0012427 Loeys-Dietz syndrome 2 MONDO:0018954 OMIM:610168 OMIMPS:609192 Loeys-Dietz syndrome MONDO:0012429 Aicardi-Goutieres syndrome 2 MONDO:0018866 OMIM:610181 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0012430 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 MONDO:0009133 OMIM:610185 OMIMPS:224050 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0012431 diaphragmatic hernia 3 MONDO:0005711 OMIM:610187 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0012432 Joubert syndrome 5 MONDO:0018772 OMIM:610188 OMIMPS:213300 Joubert syndrome MONDO:0012433 Senior-Loken syndrome 6 MONDO:0017842 OMIM:610189 OMIMPS:266900 Senior-Loken syndrome MONDO:0012434 arrhythmogenic right ventricular dysplasia 10 MONDO:0016342 OMIM:610193 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0017359 OMIM:610198 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0012438 pontocerebellar hypoplasia type 5 MONDO:0020135 OMIM:610204 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation MONDO:0007318 OMIM:610205 OMIMPS:118450 Alagille syndrome MONDO:0012440 migraine with or without aura, susceptibility to, 10 MONDO:0100246 OMIM:610208 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0012441 migraine with or without aura, susceptibility to, 11 MONDO:0100246 OMIM:610209 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0012442 autosomal recessive nonsyndromic hearing loss 66 MONDO:0019588 OMIM:610212 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012443 aneurysm, intracranial berry, 4 MONDO:0016483 OMIM:610213 OMIMPS:105800 intracranial berry aneurysm MONDO:0012445 autosomal recessive nonsyndromic hearing loss 59 MONDO:0019588 OMIM:610220 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012448 hereditary spastic paraplegia 33 MONDO:0019064 OMIM:610244 OMIMPS:303350 hereditary spastic paraplegia MONDO:0012452 autosomal recessive nonsyndromic hearing loss 65 MONDO:0019588 OMIM:610248 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012453 hereditary spastic paraplegia 31 MONDO:0019064 OMIM:610250 OMIMPS:303350 hereditary spastic paraplegia MONDO:0012456 congenital primary aphakia MONDO:0019503 OMIM:610256 OMIMPS:107250 anterior segment dysgenesis MONDO:0012457 pyloric stenosis, infantile hypertrophic, 2 MONDO:0100239 OMIM:610260 OMIMPS:179010 inherited hypertrophic pyloric stenosis MONDO:0012460 autosomal recessive nonsyndromic hearing loss 67 MONDO:0019588 OMIM:610265 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012463 retinitis pigmentosa 35 MONDO:0019200 OMIM:610282 OMIMPS:268000 retinitis pigmentosa MONDO:0012464 cone-rod dystrophy 10 MONDO:0015993 OMIM:610283 OMIMPS:120970 cone-rod dystrophy MONDO:0012467 cold-induced sweating syndrome 2 MONDO:0015526 OMIM:610313 OMIMPS:272430 cold-induced sweating syndrome MONDO:0012469 myopia 14 MONDO:0001384 OMIM:610320 OMIMPS:160700 myopia MONDO:0012471 Aicardi-Goutieres syndrome 3 MONDO:0018866 OMIM:610329 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0012472 Aicardi-Goutieres syndrome 4 MONDO:0018866 OMIM:610333 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 MONDO:0000030 OMIM:610353 OMIMPS:600513 sleep-related hypermotor epilepsy MONDO:0012476 hereditary spastic paraplegia 30 MONDO:0019064 OMIM:610357 OMIMPS:303350 hereditary spastic paraplegia MONDO:0012477 retinitis pigmentosa 33 MONDO:0019200 OMIM:610359 OMIMPS:268000 retinitis pigmentosa MONDO:0012478 orofacial cleft 9 MONDO:0000358 OMIM:610361 OMIMPS:119530 orofacial cleft MONDO:0012479 congenital malabsorptive diarrhea 4 MONDO:0000824 OMIM:610370 OMIMPS:214700 congenital diarrhea MONDO:0012483 cone-rod dystrophy 11 MONDO:0015993 OMIM:610381 OMIMPS:120970 cone-rod dystrophy MONDO:0012485 autosomal recessive nonsyndromic hearing loss 68 MONDO:0019588 OMIM:610419 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012487 alopecia-intellectual disability syndrome 2 MONDO:0008756 OMIM:610422 OMIMPS:203650 alopecia - intellectual disability syndrome MONDO:0012491 macroglobulinemia, Waldenstrom, 2 MONDO:0100280 OMIM:610430 OMIMPS:153600 Waldenstrom macroglobulinemia MONDO:0012492 restless legs syndrome, susceptibility to, 3 MONDO:0100170 OMIM:610438 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0012493 restless legs syndrome, susceptibility to, 4 MONDO:0100170 OMIM:610439 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MONDO:0016293 OMIM:610444 OMIMPS:310500 congenital stationary night blindness MONDO:0012498 congenital stationary night blindness autosomal dominant 1 MONDO:0016293 OMIM:610445 OMIMPS:310500 congenital stationary night blindness MONDO:0012500 chilblain lupus 1 MONDO:0018827 OMIM:610448 OMIMPS:610448 familial chilblain lupus MONDO:0012503 thiopurine S-methyltransferase deficiency MONDO:0000210 OMIM:610460 OMIMPS:610460 thiopurine metabolic disease MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 MONDO:0015999 OMIM:610475 OMIMPS:610489 primary pigmented nodular adrenocortical disease MONDO:0012506 arrhythmogenic right ventricular dysplasia 11 MONDO:0016342 OMIM:610476 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 MONDO:0015999 OMIM:610489 OMIMPS:610489 primary pigmented nodular adrenocortical disease MONDO:0012510 combined oxidative phosphorylation defect type 2 MONDO:0000732 OMIM:610498 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 MONDO:0000732 OMIM:610505 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:0019046 OMIM:610532 OMIMPS:312080 leukodystrophy MONDO:0012518 congenital myasthenic syndrome 12 MONDO:0000182 OMIM:610542 OMIMPS:610542 congenital myasthenic syndrome with tubular aggregates MONDO:0012523 retinitis pigmentosa 36 MONDO:0019200 OMIM:610599 OMIMPS:268000 retinitis pigmentosa MONDO:0012525 Leber congenital amaurosis 12 MONDO:0018998 OMIM:610612 OMIMPS:204000 Leber congenital amaurosis MONDO:0012526 hereditary angioedema type 3 MONDO:0019623 OMIM:610618 OMIMPS:106100 hereditary angioedema MONDO:0012529 Diamond-Blackfan anemia 3 MONDO:0015253 OMIM:610629 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 MONDO:0019180 OMIM:610655 OMIMPS:187300 hereditary hemorrhagic telangiectasia MONDO:0012534 combined oxidative phosphorylation defect type 4 MONDO:0000732 OMIM:610678 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0012539 Joubert syndrome 6 MONDO:0018772 OMIM:610688 OMIMPS:213300 Joubert syndrome MONDO:0012540 age related macular degeneration 4 MONDO:0005150 OMIM:610698 OMIMPS:603075 age-related macular degeneration MONDO:0012547 Noonan syndrome 4 MONDO:0018997 OMIM:610733 OMIMPS:163950 Noonan syndrome MONDO:0012549 autosomal recessive ataxia, Beauce type MONDO:0015244 OMIM:610743 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0012551 alopecia areata 2 MONDO:0000005 OMIM:610753 OMIMPS:203655 alopecia, isolated MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0017169 OMIM:610755 OMIMPS:131100 multiple endocrine neoplasia MONDO:0012553 cerebrooculofacioskeletal syndrome 2 MONDO:0008926 OMIM:610756 OMIMPS:214150 COFS syndrome MONDO:0012554 cerebrooculofacioskeletal syndrome 4 MONDO:0008926 OMIM:610758 OMIMPS:214150 COFS syndrome MONDO:0012555 Cornelia de Lange syndrome 3 MONDO:0016033 OMIM:610759 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0005500 OMIM:610768 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0012561 congenital anomalies of kidney and urinary tract 1 MONDO:0019719 OMIM:610805 OMIMPS:610805 congenital anomaly of kidney and urinary tract MONDO:0012562 holoprosencephaly 7 MONDO:0016296 OMIM:610828 OMIMPS:236100 holoprosencephaly MONDO:0012565 Fanconi anemia complementation group N MONDO:0019391 OMIM:610832 OMIMPS:227650 Fanconi anemia MONDO:0012569 mitral valve prolapse, myxomatous 3 MONDO:0008004 OMIM:610840 OMIMPS:157700 familial mitral valve prolapse MONDO:0012571 primary ciliary dyskinesia 6 MONDO:0016575 OMIM:610852 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012573 vesicoureteral reflux 2 MONDO:0017329 OMIM:610878 OMIMPS:193000 familial vesicoureteral reflux MONDO:0012575 branchiootorenal syndrome 2 MONDO:0007029 OMIM:610896 OMIMPS:113650 branchio-oto-renal syndrome MONDO:0012576 supranuclear palsy, progressive, 3 MONDO:0019037 OMIM:610898 OMIMPS:601104 progressive supranuclear palsy MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0012580 OMIM:610921 OMIMPS:265120 hereditary pulmonary alveolar proteinosis MONDO:0012583 tooth agenesis, selective, 5 MONDO:0005486 OMIM:610926 OMIMPS:106600 tooth agenesis MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0016295 OMIM:610951 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0012598 fibromatosis, gingival, 4 MONDO:0016070 OMIM:611010 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 MONDO:0019588 OMIM:611022 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0044202 OMIM:611031 OMIMPS:128200 episodic kinesigenic dyskinesia MONDO:0012604 isolated microphthalmia 3 MONDO:0000062 OMIM:611038 OMIMPS:251600 isolated microphthalmia MONDO:0012605 isolated microphthalmia 5 MONDO:0000062 OMIM:611040 OMIMPS:251600 isolated microphthalmia MONDO:0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 MONDO:0015363 OMIM:611067 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0012610 inflammatory bowel disease 10 MONDO:0005265 OMIM:611081 OMIMPS:266600 inflammatory bowel disease MONDO:0012612 intellectual disability, autosomal recessive 12 MONDO:0019502 OMIM:611090 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012613 intellectual disability, autosomal recessive 5 MONDO:0019502 OMIM:611091 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012614 intellectual disability, autosomal recessive 6 MONDO:0019502 OMIM:611092 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012615 intellectual disability, autosomal recessive 7 MONDO:0019502 OMIM:611093 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012617 intellectual disability, autosomal recessive 9 MONDO:0019502 OMIM:611095 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012618 intellectual disability, autosomal recessive 10 MONDO:0019502 OMIM:611096 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012619 intellectual disability, autosomal recessive 11 MONDO:0019502 OMIM:611097 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012623 intellectual disability, autosomal recessive 4 MONDO:0019502 OMIM:611107 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0012625 retinitis pigmentosa 37 MONDO:0019200 OMIM:611131 OMIMPS:268000 retinitis pigmentosa MONDO:0012626 Meckel syndrome, type 4 MONDO:0018921 OMIM:611134 OMIMPS:249000 Meckel syndrome MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0005501 OMIM:611182 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0012636 restless legs syndrome, susceptibility to, 6 MONDO:0100170 OMIM:611185 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0005501 OMIM:611209 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0016073 OMIM:611222 OMIMPS:309800 syndromic microphthalmia MONDO:0012641 restless legs syndrome, susceptibility to, 5 MONDO:0100170 OMIM:611242 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0012644 asphyxiating thoracic dystrophy 2 MONDO:0018770 OMIM:611263 OMIMPS:208500 Jeune syndrome MONDO:0012650 Cernunnos-XLF deficiency MONDO:0031520 OMIM:611291 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0012651 spastic ataxia 2 MONDO:0017845 OMIM:611302 OMIMPS:108600 spastic ataxia MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0015152 OMIM:611307 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0012653 persistent hyperplastic primary vitreous, autosomal dominant MONDO:0019631 OMIM:611308 OMIMPS:221900 persistent hyperplastic primary vitreous MONDO:0012654 atrial septal defect 4 MONDO:0006664 OMIM:611363 OMIMPS:108800 atrial septal defect MONDO:0012656 lethal congenital contracture syndrome 3 MONDO:0017436 OMIM:611369 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0012659 age related macular degeneration 9 MONDO:0005150 OMIM:611378 OMIMPS:603075 age-related macular degeneration MONDO:0012670 autosomal recessive nonsyndromic hearing loss 63 MONDO:0019588 OMIM:611451 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012671 tremor, hereditary essential, 3 MONDO:0003233 OMIM:611456 OMIMPS:190300 essential tremor MONDO:0012672 cholelithiasis MONDO:0700225 OMIM:611465 OMIMPS:600803 hereditary gallbladder disorder MONDO:0012674 age related macular degeneration 10 MONDO:0005150 OMIM:611488 OMIMPS:603075 age-related macular degeneration MONDO:0012676 autosomal recessive osteopetrosis 4 MONDO:0019026 OMIM:611490 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0012677 atrial fibrillation, familial, 4 MONDO:0018054 OMIM:611493 OMIMPS:608583 familial atrial fibrillation MONDO:0012678 atrial fibrillation, familial, 5 MONDO:0018054 OMIM:611494 OMIMPS:608583 familial atrial fibrillation MONDO:0012679 autosomal recessive osteopetrosis 6 MONDO:0019026 OMIM:611497 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0012680 nephronophthisis 7 MONDO:0019005 OMIM:611498 OMIMPS:256100 nephronophthisis MONDO:0012681 febrile seizures, familial, 7 MONDO:0000032 OMIM:611515 OMIMPS:121210 febrile seizures, familial MONDO:0012682 immunodeficiency 35 MONDO:0021094 OMIM:611521 OMIMPS:300755 immunodeficiency disease MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:0020135 OMIM:611523 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 MONDO:0016342 OMIM:611528 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0012689 premature ovarian failure 5 MONDO:0019852 OMIM:611548 OMIMPS:311360 inherited primary ovarian failure MONDO:0012690 Noonan syndrome 5 MONDO:0018997 OMIM:611553 OMIMPS:163950 Noonan syndrome MONDO:0012691 LEOPARD syndrome 2 MONDO:0007893 OMIM:611554 OMIMPS:151100 Noonan syndrome with multiple lentigines MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO:0002412 OMIM:611556 OMIMPS:232200 disorder of glycogen metabolism MONDO:0012694 Joubert syndrome 7 MONDO:0018772 OMIM:611560 OMIMPS:213300 Joubert syndrome MONDO:0012695 Meckel syndrome, type 5 MONDO:0018921 OMIM:611561 OMIMPS:249000 Meckel syndrome MONDO:0012696 otosclerosis 4 MONDO:0005349 OMIM:611571 OMIMPS:166800 otosclerosis MONDO:0012697 otosclerosis 7 MONDO:0005349 OMIM:611572 OMIMPS:166800 otosclerosis MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0000173 OMIM:611588 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0015152 OMIM:611588 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0015827 OMIM:611590 OMIMPS:179800 distal renal tubular acidosis MONDO:0012701 cataract 12 multiple types MONDO:0005129 OMIM:611597 OMIMPS:116200 cataract MONDO:0012705 familial temporal lobe epilepsy 3 MONDO:0005115 OMIM:611630 OMIMPS:600512 temporal lobe epilepsy MONDO:0012706 familial temporal lobe epilepsy 4 MONDO:0005115 OMIM:611631 OMIMPS:600512 temporal lobe epilepsy MONDO:0012707 familial febrile seizures 9 MONDO:0000032 OMIM:611634 OMIMPS:121210 febrile seizures, familial MONDO:0012709 microphthalmia, isolated, with coloboma 5 MONDO:0000170 OMIM:611638 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0012715 migraine with or without aura, susceptibility to, 12 MONDO:0100246 OMIM:611706 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0012718 hypotonia with lactic acidemia and hyperammonemia MONDO:0000732 OMIM:611719 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0016295 OMIM:611726 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0020074 OMIM:611726 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0012723 Leber congenital amaurosis 10 MONDO:0018998 OMIM:611755 OMIMPS:204000 Leber congenital amaurosis MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:0018768 OMIM:611762 OMIMPS:120100 familial cold autoinflammatory syndrome MONDO:0012728 Brugada syndrome 2 MONDO:0015263 OMIM:611777 OMIMPS:601144 Brugada syndrome MONDO:0012729 erythrocytosis, familial, 4 MONDO:0001115 OMIM:611783 OMIMPS:133100 familial polycythemia MONDO:0012730 aortic aneurysm, familial thoracic 6 MONDO:0019625 OMIM:611788 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0012736 long QT syndrome 9 MONDO:0019171 OMIM:611818 OMIMPS:192500 familial long QT syndrome MONDO:0012737 long QT syndrome 10 MONDO:0019171 OMIM:611819 OMIMPS:192500 familial long QT syndrome MONDO:0012738 long QT syndrome 11 MONDO:0019171 OMIM:611820 OMIMPS:192500 familial long QT syndrome MONDO:0012742 Brugada syndrome 3 MONDO:0015263 OMIM:611875 OMIMPS:601144 Brugada syndrome MONDO:0012743 Brugada syndrome 4 MONDO:0015263 OMIM:611876 OMIMPS:601144 Brugada syndrome MONDO:0012744 dilated cardiomyopathy 1Y MONDO:0018901 OMIM:611878 OMIMPS:604169 left ventricular noncompaction MONDO:0012748 primary ciliary dyskinesia 7 MONDO:0016575 OMIM:611884 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012751 aortic aneurysm, familial abdominal, 3 MONDO:0007031 OMIM:611891 OMIMPS:100070 familial abdominal aortic aneurysm MONDO:0012752 aneurysm, intracranial berry, 6 MONDO:0016483 OMIM:611892 OMIMPS:105800 intracranial berry aneurysm MONDO:0012753 amyotrophic lateral sclerosis type 9 MONDO:0005144 OMIM:611895 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0012754 nanophthalmos 3 MONDO:0005514 OMIM:611897 OMIMPS:600165 nanophthalmia MONDO:0012755 episodic ataxia type 7 MONDO:0016227 OMIM:611907 OMIMPS:160120 hereditary episodic ataxia MONDO:0012762 catecholaminergic polymorphic ventricular tachycardia 2 MONDO:0017990 OMIM:611938 OMIMPS:604772 catecholaminergic polymorphic ventricular tachycardia MONDO:0012765 lymphatic malformation 2 MONDO:0019313 OMIM:611944 OMIMPS:153100 lymphatic malformation MONDO:0012767 age related macular degeneration 11 MONDO:0005150 OMIM:611953 OMIMPS:603075 age-related macular degeneration MONDO:0012775 thrombocytopenia 4 MONDO:0100241 OMIM:612004 OMIMPS:313900 inherited thrombocytopenia MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0005500 OMIM:612015 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0015244 OMIM:612016 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0018151 OMIM:612016 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0012785 pyloric stenosis, infantile hypertrophic, 3 MONDO:0100239 OMIM:612017 OMIMPS:179010 inherited hypertrophic pyloric stenosis MONDO:0012790 amyotrophic lateral sclerosis type 10 MONDO:0005144 OMIM:612069 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0012793 hypouricemia, renal, 2 MONDO:0968951 OMIM:612076 OMIMPS:220150 hypouricemia, renal MONDO:0012796 retinitis pigmentosa 41 MONDO:0019200 OMIM:612095 OMIMPS:268000 retinitis pigmentosa MONDO:0012797 otosclerosis 8 MONDO:0005349 OMIM:612096 OMIMPS:166800 otosclerosis MONDO:0012799 hypertrophic cardiomyopathy 11 MONDO:0024573 OMIM:612098 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0012804 hypertrophic cardiomyopathy 12 MONDO:0024573 OMIM:612124 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0000188 OMIM:612126 OMIMPS:606777 GLUT1 deficiency syndrome MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0010293 OMIM:612132 OMIMPS:300291 ectodermal dysplasia and immune deficiency MONDO:0012807 epidermolysis bullosa simplex 5C, with pyloric atresia MONDO:0017610 OMIM:612138 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0012810 aneurysm, intracranial berry, 7 MONDO:0016483 OMIM:612161 OMIMPS:105800 intracranial berry aneurysm MONDO:0012811 aneurysm, intracranial berry, 8 MONDO:0016483 OMIM:612162 OMIMPS:105800 intracranial berry aneurysm MONDO:0012812 developmental and epileptic encephalopathy, 4 MONDO:0100062 OMIM:612164 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0012813 retinitis pigmentosa 29 MONDO:0019200 OMIM:612165 OMIMPS:268000 retinitis pigmentosa MONDO:0012816 atrial fibrillation, familial, 6 MONDO:0018054 OMIM:612201 OMIMPS:608583 familial atrial fibrillation MONDO:0012828 atrial fibrillation, familial, 7 MONDO:0018054 OMIM:612240 OMIMPS:608583 familial atrial fibrillation MONDO:0012829 inflammatory bowel disease 12 MONDO:0005265 OMIM:612241 OMIMPS:266600 inflammatory bowel disease MONDO:0012831 inflammatory bowel disease 13 MONDO:0005265 OMIM:612244 OMIMPS:266600 inflammatory bowel disease MONDO:0012832 inflammatory bowel disease 14 MONDO:0005265 OMIM:612245 OMIMPS:266600 inflammatory bowel disease MONDO:0012837 inflammatory bowel disease 15 MONDO:0005265 OMIM:612255 OMIMPS:266600 inflammatory bowel disease MONDO:0012838 inflammatory bowel disease 16 MONDO:0005265 OMIM:612259 OMIMPS:266600 inflammatory bowel disease MONDO:0012839 pyogenic bacterial infections due to MyD88 deficiency MONDO:0021094 OMIM:612260 OMIMPS:300755 immunodeficiency disease MONDO:0012840 inflammatory bowel disease 17 MONDO:0005265 OMIM:612261 OMIMPS:266600 inflammatory bowel disease MONDO:0012841 inflammatory bowel disease 18 MONDO:0005265 OMIM:612262 OMIMPS:266600 inflammatory bowel disease MONDO:0012842 melanoma, cutaneous malignant, susceptibility to, 7 MONDO:0024462 OMIM:612263 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0012844 primary ciliary dyskinesia 8 MONDO:0016575 OMIM:612274 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012845 inflammatory bowel disease 19 MONDO:0005265 OMIM:612278 OMIMPS:266600 inflammatory bowel disease MONDO:0012846 generalized epilepsy with febrile seizures plus, type 6 MONDO:0018214 OMIM:612279 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0012848 Meckel syndrome, type 6 MONDO:0018921 OMIM:612284 OMIMPS:249000 Meckel syndrome MONDO:0012849 Joubert syndrome 9 MONDO:0018772 OMIM:612285 OMIMPS:213300 Joubert syndrome MONDO:0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 MONDO:0000079 OMIM:612286 OMIMPS:612286 nephrolithiasis/osteoporosis, hypophosphatemic MONDO:0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 MONDO:0000079 OMIM:612287 OMIMPS:612286 nephrolithiasis/osteoporosis, hypophosphatemic MONDO:0012852 inflammatory bowel disease 20 MONDO:0005265 OMIM:612288 OMIMPS:266600 inflammatory bowel disease MONDO:0012855 Joubert syndrome 8 MONDO:0018772 OMIM:612291 OMIMPS:213300 Joubert syndrome MONDO:0012859 autosomal recessive osteopetrosis 7 MONDO:0019026 OMIM:612301 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0012861 premature ovarian failure 6 MONDO:0019852 OMIM:612310 OMIMPS:311360 inherited primary ovarian failure MONDO:0012866 hereditary spastic paraplegia 35 MONDO:0019064 OMIM:612319 OMIMPS:303350 hereditary spastic paraplegia MONDO:0012871 Jervell and Lange-Nielsen syndrome 2 MONDO:0002441 OMIM:612347 OMIMPS:220400 Jervell and Lange-Nielsen syndrome MONDO:0012872 thrombophilia, familial, due to decreased release of tissue plasminogen activator MONDO:0100240 OMIM:612348 OMIMPS:188050 inherited thrombophilia MONDO:0012875 inflammatory bowel disease 21 MONDO:0005265 OMIM:612354 OMIMPS:266600 inflammatory bowel disease MONDO:0012876 heparin cofactor 2 deficiency MONDO:0100240 OMIM:612356 OMIMPS:188050 inherited thrombophilia MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0005500 OMIM:612379 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0012886 inflammatory bowel disease 22 MONDO:0005265 OMIM:612380 OMIMPS:266600 inflammatory bowel disease MONDO:0012887 inflammatory bowel disease 23 MONDO:0005265 OMIM:612381 OMIMPS:266600 inflammatory bowel disease MONDO:0012899 alopecia, androgenetic, 3 MONDO:0000005 OMIM:612421 OMIMPS:203655 alopecia, isolated MONDO:0012900 cardiomyopathy, familial restrictive, 3 MONDO:0016340 OMIM:612422 OMIMPS:115210 familial restrictive cardiomyopathy MONDO:0012902 autosomal dominant nonsyndromic hearing loss 27 MONDO:0019587 OMIM:612431 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012903 autosomal recessive nonsyndromic hearing loss 45 MONDO:0019588 OMIM:612433 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012904 epilepsy, progressive myoclonic, 1B MONDO:0020074 OMIM:612437 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0012905 hypomyelinating leukodystrophy 6 MONDO:0019046 OMIM:612438 OMIMPS:312080 leukodystrophy MONDO:0012906 primary ciliary dyskinesia 9 MONDO:0016575 OMIM:612444 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012917 specific language impairment 4 MONDO:0000724 OMIM:612514 OMIMPS:606711 specific language impairment MONDO:0012918 primary ciliary dyskinesia 10 MONDO:0016575 OMIM:612518 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012922 pyloric stenosis, infantile hypertrophic, 5 MONDO:0100239 OMIM:612525 OMIMPS:179010 inherited hypertrophic pyloric stenosis MONDO:0012923 congenital generalized lipodystrophy type 3 MONDO:0006536 OMIM:612526 OMIMPS:608594 congenital generalized lipodystrophy MONDO:0012924 Diamond-Blackfan anemia 4 MONDO:0015253 OMIM:612527 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012925 Diamond-Blackfan anemia 5 MONDO:0015253 OMIM:612528 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:0016296 OMIM:612530 OMIMPS:236100 holoprosencephaly MONDO:0012929 Compton-North congenital myopathy MONDO:0019952 OMIM:612540 OMIMPS:117000 congenital myopathy MONDO:0012932 myopia 16, autosomal dominant MONDO:0001384 OMIM:612554 OMIMPS:160700 myopia MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 MONDO:0100526 OMIM:612555 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to MONDO:0012937 Diamond-Blackfan anemia 6 MONDO:0015253 OMIM:612561 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012938 Diamond-Blackfan anemia 7 MONDO:0015253 OMIM:612562 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012939 Diamond-Blackfan anemia 8 MONDO:0015253 OMIM:612563 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012940 inflammatory bowel disease 24 MONDO:0005265 OMIM:612566 OMIMPS:266600 inflammatory bowel disease MONDO:0012943 retinitis pigmentosa 46 MONDO:0019200 OMIM:612572 OMIMPS:268000 retinitis pigmentosa MONDO:0012945 amyotrophic lateral sclerosis type 11 MONDO:0005144 OMIM:612577 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0012946 intellectual disability, autosomal dominant 3 MONDO:0100172 OMIM:612580 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0012947 intellectual disability, autosomal dominant 4 MONDO:0100172 OMIM:612581 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0012949 aneurysm, intracranial berry, 9 MONDO:0016483 OMIM:612586 OMIMPS:105800 intracranial berry aneurysm MONDO:0012950 aneurysm, intracranial berry, 10 MONDO:0016483 OMIM:612587 OMIMPS:105800 intracranial berry aneurysm MONDO:0012956 multiple sclerosis, susceptibility to, 2 MONDO:0007462 OMIM:612594 OMIMPS:126200 multiple sclerosis, susceptibility to MONDO:0012957 multiple sclerosis, susceptibility to, 3 MONDO:0007462 OMIM:612595 OMIMPS:126200 multiple sclerosis, susceptibility to MONDO:0012958 multiple sclerosis, susceptibility to, 4 MONDO:0007462 OMIM:612596 OMIMPS:126200 multiple sclerosis, susceptibility to MONDO:0012960 intellectual disability, autosomal dominant 5 MONDO:0100172 OMIM:612621 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 MONDO:0000065 OMIM:612623 OMIMPS:603933 microvascular complications of diabetes, susceptibility MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 MONDO:0000065 OMIM:612624 OMIMPS:603933 microvascular complications of diabetes, susceptibility MONDO:0012965 seizures, benign familial infantile, 4 MONDO:0017615 OMIM:612627 OMIMPS:601764 benign familial infantile epilepsy MONDO:0012966 microvascular complications of diabetes, susceptibility to, 4 MONDO:0000065 OMIM:612628 OMIMPS:603933 microvascular complications of diabetes, susceptibility MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 MONDO:0000065 OMIM:612633 OMIMPS:603933 microvascular complications of diabetes, susceptibility MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 MONDO:0000065 OMIM:612634 OMIMPS:603933 microvascular complications of diabetes, susceptibility MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 MONDO:0000065 OMIM:612635 OMIMPS:603933 microvascular complications of diabetes, susceptibility MONDO:0012972 febrile seizures, familial, 10 MONDO:0000032 OMIM:612637 OMIMPS:121210 febrile seizures, familial MONDO:0012973 inflammatory bowel disease 26 MONDO:0005265 OMIM:612639 OMIMPS:266600 inflammatory bowel disease MONDO:0012974 autosomal dominant nonsyndromic hearing loss 59 MONDO:0019587 OMIM:612642 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012975 autosomal dominant nonsyndromic hearing loss 3B MONDO:0019587 OMIM:612643 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012976 autosomal dominant nonsyndromic hearing loss 2B MONDO:0019587 OMIM:612644 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0012977 autosomal recessive nonsyndromic hearing loss 1B MONDO:0019588 OMIM:612645 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012978 primary ciliary dyskinesia 11 MONDO:0016575 OMIM:612649 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012979 primary ciliary dyskinesia 12 MONDO:0016575 OMIM:612650 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012982 episodic ataxia type 6 MONDO:0016227 OMIM:612656 OMIMPS:160120 hereditary episodic ataxia MONDO:0012983 cone-rod dystrophy 12 MONDO:0015993 OMIM:612657 OMIMPS:120970 cone-rod dystrophy MONDO:0012989 microcephaly 7, primary, autosomal recessive MONDO:0016660 OMIM:612703 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0012990 Leber congenital amaurosis 13 MONDO:0018998 OMIM:612712 OMIMPS:204000 Leber congenital amaurosis MONDO:0012993 dyschromatosis universalis hereditaria 2 MONDO:0000736 OMIM:612715 OMIMPS:127500 dyschromatosis universalis hereditaria MONDO:0012995 myopia 15, autosomal dominant MONDO:0001384 OMIM:612717 OMIMPS:160700 myopia MONDO:0012996 AGAT deficiency MONDO:0000456 OMIM:612718 OMIMPS:300352 cerebral creatine deficiency syndrome MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:0000456 OMIM:612736 OMIMPS:300352 cerebral creatine deficiency syndrome MONDO:0013002 cone-rod dystrophy 9 MONDO:0015993 OMIM:612775 OMIMPS:120970 cone-rod dystrophy MONDO:0013006 isolated growth hormone deficiency type IB MONDO:0000050 OMIM:612781 OMIMPS:262400 isolated congenital growth hormone deficiency MONDO:0013010 autosomal recessive nonsyndromic hearing loss 71 MONDO:0019588 OMIM:612789 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013011 atrial septal defect 5 MONDO:0006664 OMIM:612794 OMIMPS:108800 atrial septal defect MONDO:0013012 inflammatory bowel disease 27 MONDO:0005265 OMIM:612796 OMIMPS:266600 inflammatory bowel disease MONDO:0013015 Brugada syndrome 5 MONDO:0015263 OMIM:612838 OMIMPS:601144 Brugada syndrome MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0009813 OMIM:612852 OMIMPS:609628 chronic recurrent multifocal osteomyelitis MONDO:0013022 restless legs syndrome, susceptibility to, 7 MONDO:0100170 OMIM:612853 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0013023 orofacial cleft 12 MONDO:0000358 OMIM:612858 OMIMPS:119530 orofacial cleft MONDO:0013029 cerebellar ataxia type 9 MONDO:0020380 OMIM:612876 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal MONDO:0020341 OMIM:612881 OMIMPS:300049 periventricular nodular heterotopia MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 MONDO:0016215 OMIM:612900 OMIMPS:612900 spastic quadriplegic cerebral palsy MONDO:0013035 orofaciodigital syndrome XI MONDO:0015375 OMIM:612913 OMIMPS:311200 orofaciodigital syndrome MONDO:0013039 3M syndrome 2 MONDO:0007477 OMIM:612921 OMIMPS:273750 3-M syndrome MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:0002412 OMIM:612932 OMIMPS:232200 disorder of glycogen metabolism MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO:0002412 OMIM:612933 OMIMPS:232200 disorder of glycogen metabolism MONDO:0013048 hereditary spastic paraplegia 50 MONDO:0019064 OMIM:612936 OMIMPS:303350 hereditary spastic paraplegia MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0005500 OMIM:612937 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0013052 retinitis pigmentosa 42 MONDO:0019200 OMIM:612943 OMIMPS:268000 retinitis pigmentosa MONDO:0013059 Aicardi-Goutieres syndrome 5 MONDO:0018866 OMIM:612952 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0013061 myofibrillar myopathy 6 MONDO:0018943 OMIM:612954 OMIMPS:601419 myofibrillar myopathy MONDO:0013062 long QT syndrome 12 MONDO:0019171 OMIM:612955 OMIMPS:192500 familial long QT syndrome MONDO:0013064 multiple synostoses syndrome 3 MONDO:0017923 OMIM:612961 OMIMPS:186500 multiple synostoses syndrome MONDO:0013065 premature ovarian failure 7 MONDO:0019852 OMIM:612964 OMIMPS:311360 inherited primary ovarian failure MONDO:0013066 46,XY sex reversal 3 MONDO:0010765 OMIM:612965 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0013067 cataract 34 multiple types MONDO:0005129 OMIM:612968 OMIMPS:116200 cataract MONDO:0013069 autosomal recessive optic atrophy, OPA7 type MONDO:0043878 OMIM:612989 OMIMPS:165500 hereditary optic atrophy MONDO:0013070 spermatogenic failure 7 MONDO:0004983 OMIM:612997 OMIMPS:258150 spermatogenic failure MONDO:0013079 primary biliary cholangitis 2 MONDO:0005388 OMIM:613007 OMIMPS:109720 primary biliary cholangitis MONDO:0013080 primary biliary cholangitis 3 MONDO:0005388 OMIM:613008 OMIMPS:109720 primary biliary cholangitis MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0016537 OMIM:613011 OMIMPS:308240 lymphoproliferative syndrome MONDO:0013092 glioma susceptibility 2 MONDO:0100242 OMIM:613028 OMIMPS:137800 glioma susceptibility MONDO:0013093 glioma susceptibility 3 MONDO:0100242 OMIM:613029 OMIMPS:137800 glioma susceptibility MONDO:0013094 glioma susceptibility 5 MONDO:0100242 OMIM:613030 OMIMPS:137800 glioma susceptibility MONDO:0013095 glioma susceptibility 6 MONDO:0100242 OMIM:613031 OMIMPS:137800 glioma susceptibility MONDO:0013096 glioma susceptibility 7 MONDO:0100242 OMIM:613032 OMIMPS:137800 glioma susceptibility MONDO:0013097 glioma susceptibility 8 MONDO:0100242 OMIM:613033 OMIMPS:137800 glioma susceptibility MONDO:0013100 atrial fibrillation, familial, 8 MONDO:0018054 OMIM:613055 OMIMPS:608583 familial atrial fibrillation MONDO:0013107 dermatitis, atopic, 7 MONDO:0100178 OMIM:613064 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0013114 autosomal dominant nonsyndromic hearing loss 50 MONDO:0019587 OMIM:613074 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0013119 autosomal recessive nonsyndromic hearing loss 77 MONDO:0019588 OMIM:613079 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013120 46,XY sex reversal 5 MONDO:0010765 OMIM:613080 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0013123 atrial septal defect 6 MONDO:0006664 OMIM:613087 OMIMPS:108800 atrial septal defect MONDO:0013127 asphyxiating thoracic dystrophy 3 MONDO:0018770 OMIM:613091 OMIMPS:208500 Jeune syndrome MONDO:0013128 familial juvenile hyperuricemic nephropathy type 2 MONDO:0000608 OMIM:613092 OMIMPS:162000 familial juvenile hyperuricemic nephropathy MONDO:0013130 isolated microphthalmia 4 MONDO:0000062 OMIM:613094 OMIMPS:251600 isolated microphthalmia MONDO:0013133 melanoma, cutaneous malignant, susceptibility to, 5 MONDO:0024462 OMIM:613099 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0013135 familial hemophagocytic lymphohistiocytosis 5 MONDO:0015541 OMIM:613101 OMIMPS:267700 hereditary hemophagocytic lymphohistiocytosis MONDO:0013137 choroidal dystrophy, central areolar 2 MONDO:0008982 OMIM:613105 OMIMPS:215500 central areolar choroidal dystrophy MONDO:0013140 candidiasis, familial, 4 MONDO:0015279 OMIM:613108 OMIMPS:114580 chronic mucocutaneous candidiasis MONDO:0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency MONDO:0100240 OMIM:613116 OMIMPS:188050 inherited thrombophilia MONDO:0013144 hereditary antithrombin deficiency MONDO:0100240 OMIM:613118 OMIMPS:188050 inherited thrombophilia MONDO:0013145 Brugada syndrome 6 MONDO:0015263 OMIM:613119 OMIMPS:601144 Brugada syndrome MONDO:0013146 Brugada syndrome 7 MONDO:0015263 OMIM:613120 OMIMPS:601144 Brugada syndrome MONDO:0013148 Brugada syndrome 8 MONDO:0015263 OMIM:613123 OMIMPS:601144 Brugada syndrome MONDO:0013151 choroidal dystrophy, central areolar, 3 MONDO:0008982 OMIM:613144 OMIMPS:215500 central areolar choroidal dystrophy MONDO:0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 MONDO:0000171 OMIM:613150 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 MONDO:0000172 OMIM:613151 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B MONDO:0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 MONDO:0000172 OMIM:613152 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B MONDO:0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 MONDO:0000171 OMIM:613153 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 MONDO:0000171 OMIM:613154 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 MONDO:0000172 OMIM:613155 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B MONDO:0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 MONDO:0000172 OMIM:613156 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0000173 OMIM:613157 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0015152 OMIM:613157 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0000173 OMIM:613158 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0015152 OMIM:613158 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0013163 nephronophthisis-like nephropathy 1 MONDO:0019005 OMIM:613159 OMIMPS:256100 nephronophthisis MONDO:0013167 parkinson disease 16 MONDO:0005180 OMIM:613164 OMIMPS:168600 Parkinson disease MONDO:0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0100237 OMIM:613177 OMIMPS:123700 inherited cutis laxa MONDO:0013173 intellectual disability, autosomal recessive 13 MONDO:0019502 OMIM:613192 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013174 primary ciliary dyskinesia 13 MONDO:0016575 OMIM:613193 OMIMPS:244400 primary ciliary dyskinesia MONDO:0013175 retinitis pigmentosa 50 MONDO:0019200 OMIM:613194 OMIMPS:268000 retinitis pigmentosa MONDO:0013176 Weill-Marchesani 4 syndrome, recessive MONDO:0018096 OMIM:613195 OMIMPS:277600 Weill-Marchesani syndrome MONDO:0013183 congenital stationary night blindness 1C MONDO:0016293 OMIM:613216 OMIMPS:310500 congenital stationary night blindness MONDO:0013186 Noonan syndrome 6 MONDO:0018997 OMIM:613224 OMIMPS:163950 Noonan syndrome MONDO:0013188 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 MONDO:0009133 OMIM:613227 OMIMPS:224050 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0013191 focal segmental glomerulosclerosis 5 MONDO:0005363 OMIM:613237 OMIMPS:603278 inherited focal segmental glomerulosclerosis MONDO:0013192 spondyloarthropathy, susceptibility to, 3 MONDO:0024512 OMIM:613238 OMIMPS:106300 spondyloarthropathy, susceptibility to MONDO:0013195 hypertrophic cardiomyopathy 13 MONDO:0024573 OMIM:613243 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013196 Lynch syndrome 8 MONDO:0018630 OMIM:613244 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013197 hypertrophic cardiomyopathy 14 MONDO:0024573 OMIM:613251 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013199 tuberous sclerosis 2 MONDO:0001734 OMIM:613254 OMIMPS:191100 tuberous sclerosis MONDO:0013200 hypertrophic cardiomyopathy 15 MONDO:0024573 OMIM:613255 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013203 corneal dystrophy, Fuchs endothelial, 3 MONDO:0005321 OMIM:613267 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0013204 corneal dystrophy, Fuchs endothelial, 4 MONDO:0005321 OMIM:613268 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0013205 corneal dystrophy, fuchs endothelial, 5 MONDO:0005321 OMIM:613269 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0013206 corneal dystrophy, Fuchs endothelial, 6 MONDO:0005321 OMIM:613270 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0013207 corneal dystrophy, fuchs endothelial, 7 MONDO:0005321 OMIM:613271 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0000214 OMIM:613280 OMIMPS:613280 hypermanganesemia with dystonia MONDO:0013210 autosomal recessive nonsyndromic hearing loss 25 MONDO:0019588 OMIM:613285 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013215 autosomal recessive nonsyndromic hearing loss 79 MONDO:0019588 OMIM:613307 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013216 Diamond-Blackfan anemia 9 MONDO:0015253 OMIM:613308 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0013217 Diamond-Blackfan anemia 10 MONDO:0015253 OMIM:613309 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0013221 Miyoshi muscular dystrophy 2 MONDO:0009685 OMIM:613318 OMIMPS:254130 Miyoshi myopathy MONDO:0013222 Miyoshi muscular dystrophy 3 MONDO:0009685 OMIM:613319 OMIMPS:254130 Miyoshi myopathy MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0016763 OMIM:613320 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0013224 rhabdoid tumor predisposition syndrome 2 MONDO:0016473 OMIM:613325 OMIMPS:609322 familial rhabdoid tumor MONDO:0013225 congenital generalized lipodystrophy type 4 MONDO:0006536 OMIM:613327 OMIMPS:608594 congenital generalized lipodystrophy MONDO:0013230 epilepsy, hot water, 2 MONDO:0013229 OMIM:613340 OMIMPS:613339 hot water reflex epilepsy MONDO:0013231 Leber congenital amaurosis 14 MONDO:0018998 OMIM:613341 OMIMPS:204000 Leber congenital amaurosis MONDO:0013248 Fanconi anemia complementation group O MONDO:0019391 OMIM:613390 OMIMPS:227650 Fanconi anemia MONDO:0013249 autosomal recessive nonsyndromic hearing loss 84A MONDO:0019588 OMIM:613391 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 MONDO:0019588 OMIM:613392 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 MONDO:0100526 OMIM:613399 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to MONDO:0013254 microcephaly, seizures, and developmental delay MONDO:0100062 OMIM:613402 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:0017123 OMIM:613404 OMIMPS:208085 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0013261 dilated cardiomyopathy 1R MONDO:0018901 OMIM:613424 OMIMPS:604169 left ventricular noncompaction MONDO:0013262 dilated cardiomyopathy 1S MONDO:0018901 OMIM:613426 OMIMPS:604169 left ventricular noncompaction MONDO:0013263 retinitis pigmentosa 54 MONDO:0019200 OMIM:613428 OMIMPS:268000 retinitis pigmentosa MONDO:0013264 amyotrophic lateral sclerosis type 12 MONDO:0005144 OMIM:613435 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0016643 OMIM:613451 OMIMPS:136760 frontonasal dysplasia MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 MONDO:0019588 OMIM:613453 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0016643 OMIM:613456 OMIMPS:136760 frontonasal dysplasia MONDO:0013274 retinitis pigmentosa 51 MONDO:0019200 OMIM:613464 OMIMPS:268000 retinitis pigmentosa MONDO:0013277 developmental and epileptic encephalopathy, 5 MONDO:0100062 OMIM:613477 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0013278 lymphatic malformation 3 MONDO:0019313 OMIM:613480 OMIMPS:153100 lymphatic malformation MONDO:0013279 long QT syndrome 13 MONDO:0019171 OMIM:613485 OMIMPS:192500 familial long QT syndrome MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0005501 OMIM:613489 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0013283 immunodeficiency, common variable, 3 MONDO:0015517 OMIM:613493 OMIMPS:607594 common variable immunodeficiency MONDO:0013284 immunodeficiency, common variable, 4 MONDO:0015517 OMIM:613494 OMIMPS:607594 common variable immunodeficiency MONDO:0013285 immunodeficiency, common variable, 5 MONDO:0015517 OMIM:613495 OMIMPS:607594 common variable immunodeficiency MONDO:0013286 immunodeficiency, common variable, 6 MONDO:0015517 OMIM:613496 OMIMPS:607594 common variable immunodeficiency MONDO:0013293 isolated microphthalmia 6 MONDO:0000062 OMIM:613517 OMIMPS:251600 isolated microphthalmia MONDO:0013294 dermatitis, atopic, 8 MONDO:0100178 OMIM:613518 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0013295 dermatitis, atopic, 9 MONDO:0100178 OMIM:613519 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H MONDO:0015151 OMIM:613530 OMIMPS:603511 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0013302 nephronophthisis 11 MONDO:0019005 OMIM:613550 OMIMPS:256100 nephronophthisis MONDO:0013305 autosomal dominant nonsyndromic hearing loss 51 MONDO:0019587 OMIM:613558 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0013306 combined oxidative phosphorylation defect type 7 MONDO:0000732 OMIM:613559 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013307 myopathy, lactic acidosis, and sideroblastic anemia 2 MONDO:0000863 OMIM:613561 OMIMPS:600462 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0013312 retinitis pigmentosa 55 MONDO:0019200 OMIM:613575 OMIMPS:268000 retinitis pigmentosa MONDO:0013313 ectodermal dysplasia-cutaneous syndactyly syndrome MONDO:0013311 OMIM:613576 OMIMPS:613573 ectodermal dysplasia-syndactyly syndrome MONDO:0013314 retinitis pigmentosa 56 MONDO:0019200 OMIM:613581 OMIMPS:268000 retinitis pigmentosa MONDO:0013315 retinitis pigmentosa 57 MONDO:0019200 OMIM:613582 OMIMPS:268000 retinitis pigmentosa MONDO:0013322 epilepsy, familial adult myoclonic, 3 MONDO:0000160 OMIM:613608 OMIMPS:601068 epilepsy, familial adult myoclonic MONDO:0013323 cranioectodermal dysplasia 2 MONDO:0009032 OMIM:613610 OMIMPS:218330 cranioectodermal dysplasia MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0005501 OMIM:613612 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0013326 Senior-Loken syndrome 7 MONDO:0017842 OMIM:613615 OMIMPS:266900 Senior-Loken syndrome MONDO:0013327 primary hyperoxaluria type 3 MONDO:0002474 OMIM:613616 OMIMPS:259900 primary hyperoxaluria MONDO:0013328 retinitis pigmentosa 58 MONDO:0019200 OMIM:613617 OMIMPS:268000 retinitis pigmentosa MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0019064 OMIM:613647 OMIMPS:303350 hereditary spastic paraplegia MONDO:0013344 migraine, with or without aura, susceptibility to, 13 MONDO:0100246 OMIM:613656 OMIMPS:157300 migraine with or without aura, susceptibility to MONDO:0013345 d-2-hydroxyglutaric aciduria 2 MONDO:0010924 OMIM:613657 OMIMPS:600721 D-2-hydroxyglutaric aciduria MONDO:0013348 cone-rod dystrophy 15 MONDO:0015993 OMIM:613660 OMIMPS:120970 cone-rod dystrophy MONDO:0013348 cone-rod dystrophy 15 MONDO:0019200 OMIM:613660 OMIMPS:268000 retinitis pigmentosa MONDO:0013349 ALG11-congenital disorder of glycosylation MONDO:0005500 OMIM:613661 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0013350 mitochondrial DNA depletion syndrome 4b MONDO:0018158 OMIM:613662 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0013355 congenital dyserythropoietic anemia type 4 MONDO:0019403 OMIM:613673 OMIMPS:224120 congenital dyserythropoietic anemia MONDO:0013356 vesicoureteral reflux 3 MONDO:0017329 OMIM:613674 OMIMPS:193000 familial vesicoureteral reflux MONDO:0013358 Seckel syndrome 4 MONDO:0019342 OMIM:613676 OMIMPS:210600 Seckel syndrome MONDO:0013359 familial hyperaldosteronism type III MONDO:0016525 OMIM:613677 OMIMPS:103900 familial hyperaldosteronism MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:0019188 OMIM:613684 OMIMPS:180849 Rubinstein-Taybi syndrome MONDO:0013365 autosomal recessive nonsyndromic hearing loss 83 MONDO:0019588 OMIM:613685 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013367 long QT syndrome 2 MONDO:0019171 OMIM:613688 OMIMPS:192500 familial long QT syndrome MONDO:0013369 hypertrophic cardiomyopathy 7 MONDO:0024573 OMIM:613690 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013370 long QT syndrome 6 MONDO:0019171 OMIM:613693 OMIMPS:192500 familial long QT syndrome MONDO:0013372 long QT syndrome 5 MONDO:0019171 OMIM:613695 OMIMPS:192500 familial long QT syndrome MONDO:0013375 Klippel-Feil syndrome 3, autosomal dominant MONDO:0001029 OMIM:613702 OMIMPS:118100 Klippel-Feil syndrome MONDO:0013376 microphthalmia, isolated, with coloboma 6 MONDO:0000170 OMIM:613703 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0013377 isolated microphthalmia 7 MONDO:0000062 OMIM:613704 OMIMPS:251600 isolated microphthalmia MONDO:0013379 Noonan syndrome 7 MONDO:0018997 OMIM:613706 OMIMPS:163950 Noonan syndrome MONDO:0013380 LEOPARD syndrome 3 MONDO:0007893 OMIM:613707 OMIMPS:151100 Noonan syndrome with multiple lentigines MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis MONDO:0000152 OMIM:613710 OMIMPS:249270 thiamine-responsive dysfunction syndrome MONDO:0013385 Treacher Collins syndrome 2 MONDO:0002457 OMIM:613717 OMIMPS:154500 Treacher-Collins syndrome MONDO:0013386 autosomal recessive nonsyndromic hearing loss 74 MONDO:0019588 OMIM:613718 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013387 developmental and epileptic encephalopathy, 7 MONDO:0100062 OMIM:613720 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0013388 developmental and epileptic encephalopathy, 11 MONDO:0100062 OMIM:613721 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q MONDO:0015152 OMIM:613723 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 MONDO:0015244 OMIM:613728 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0013395 retinitis pigmentosa 4 MONDO:0019200 OMIM:613731 OMIMPS:268000 retinitis pigmentosa MONDO:0013397 acne inversa, familial, 2 MONDO:0024516 OMIM:613736 OMIMPS:142690 familial acne inversa MONDO:0013398 acne inversa, familial, 3 MONDO:0024516 OMIM:613737 OMIMPS:142690 familial acne inversa MONDO:0013401 hereditary spastic paraplegia 51 MONDO:0019064 OMIM:613744 OMIMPS:303350 hereditary spastic paraplegia MONDO:0013402 retinitis pigmentosa 27 MONDO:0019200 OMIM:613750 OMIMPS:268000 retinitis pigmentosa MONDO:0013403 heterotaxy, visceral, 4, autosomal MONDO:0018677 OMIM:613751 OMIMPS:306955 visceral heterotaxy MONDO:0013405 retinitis pigmentosa 49 MONDO:0019200 OMIM:613756 OMIMPS:268000 retinitis pigmentosa MONDO:0013406 age related macular degeneration 6 MONDO:0005150 OMIM:613757 OMIMPS:603075 age-related macular degeneration MONDO:0013407 retinitis pigmentosa 47 MONDO:0019200 OMIM:613758 OMIMPS:268000 retinitis pigmentosa MONDO:0013408 FADD-related immunodeficiency MONDO:0021094 OMIM:613759 OMIMPS:300755 immunodeficiency disease MONDO:0013410 46,XY sex reversal 6 MONDO:0010765 OMIM:613762 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0013412 hypertrophic cardiomyopathy 9 MONDO:0024573 OMIM:613765 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013413 retinitis pigmentosa 45 MONDO:0019200 OMIM:613767 OMIMPS:268000 retinitis pigmentosa MONDO:0013414 retinitis pigmentosa 44 MONDO:0019200 OMIM:613769 OMIMPS:268000 retinitis pigmentosa MONDO:0013416 age related macular degeneration 8 MONDO:0005150 OMIM:613778 OMIMPS:603075 age-related macular degeneration MONDO:0013418 aortic aneurysm, familial thoracic 7 MONDO:0019625 OMIM:613780 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0013420 age related macular degeneration 12 MONDO:0005150 OMIM:613784 OMIMPS:603075 age-related macular degeneration MONDO:0013423 immunodeficiency due to MASP-2 deficiency MONDO:0044209 OMIM:613791 OMIMPS:614372 disorder of lectin complement activation pathway MONDO:0013425 retinitis pigmentosa 20 MONDO:0019200 OMIM:613794 OMIMPS:268000 retinitis pigmentosa MONDO:0013426 aneurysm-osteoarthritis syndrome MONDO:0018954 OMIM:613795 OMIMPS:609192 Loeys-Dietz syndrome MONDO:0013427 immunodeficiency 31B MONDO:0021094 OMIM:613796 OMIMPS:300755 immunodeficiency disease MONDO:0013428 Meier-Gorlin syndrome 2 MONDO:0016817 OMIM:613800 OMIMPS:224690 Meier-Gorlin syndrome MONDO:0013429 retinitis pigmentosa 40 MONDO:0019200 OMIM:613801 OMIMPS:268000 retinitis pigmentosa MONDO:0013430 Meier-Gorlin syndrome 3 MONDO:0016817 OMIM:613803 OMIMPS:224690 Meier-Gorlin syndrome MONDO:0013431 Meier-Gorlin syndrome 4 MONDO:0016817 OMIM:613804 OMIMPS:224690 Meier-Gorlin syndrome MONDO:0013432 Meier-Gorlin syndrome 5 MONDO:0016817 OMIM:613805 OMIMPS:224690 Meier-Gorlin syndrome MONDO:0013434 primary ciliary dyskinesia 14 MONDO:0016575 OMIM:613807 OMIMPS:244400 primary ciliary dyskinesia MONDO:0013435 primary ciliary dyskinesia 15 MONDO:0016575 OMIM:613808 OMIMPS:244400 primary ciliary dyskinesia MONDO:0013436 retinitis pigmentosa 39 MONDO:0019200 OMIM:613809 OMIMPS:268000 retinitis pigmentosa MONDO:0013437 retinitis pigmentosa 43 MONDO:0019200 OMIM:613810 OMIMPS:268000 retinitis pigmentosa MONDO:0013439 congenital bile acid synthesis defect 3 MONDO:0018841 OMIM:613812 OMIMPS:607765 congenital bile acid synthesis defect MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0000173 OMIM:613818 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0015152 OMIM:613818 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0013441 asphyxiating thoracic dystrophy 4 MONDO:0018770 OMIM:613819 OMIMPS:208500 Jeune syndrome MONDO:0013442 nephronophthisis 12 MONDO:0019005 OMIM:613820 OMIMPS:256100 nephronophthisis MONDO:0013443 Seckel syndrome 5 MONDO:0019342 OMIM:613823 OMIMPS:210600 Seckel syndrome MONDO:0013444 nephronophthisis 9 MONDO:0019005 OMIM:613824 OMIMPS:256100 nephronophthisis MONDO:0013446 Leber congenital amaurosis 6 MONDO:0018998 OMIM:613826 OMIMPS:204000 Leber congenital amaurosis MONDO:0013447 retinitis pigmentosa 48 MONDO:0019200 OMIM:613827 OMIMPS:268000 retinitis pigmentosa MONDO:0013448 generalized epilepsy with febrile seizures plus, type 8 MONDO:0018214 OMIM:613828 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0013449 Leber congenital amaurosis 7 MONDO:0018998 OMIM:613829 OMIMPS:204000 Leber congenital amaurosis MONDO:0013450 congenital stationary night blindness 1D MONDO:0016293 OMIM:613830 OMIMPS:310500 congenital stationary night blindness MONDO:0013453 Leber congenital amaurosis 8 MONDO:0018998 OMIM:613835 OMIMPS:204000 Leber congenital amaurosis MONDO:0013454 Leber congenital amaurosis 11 MONDO:0018998 OMIM:613837 OMIMPS:204000 Leber congenital amaurosis MONDO:0013455 hypertrophic cardiomyopathy 16 MONDO:0024573 OMIM:613838 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013457 Leber congenital amaurosis 15 MONDO:0018998 OMIM:613843 OMIMPS:204000 Leber congenital amaurosis MONDO:0013464 episodic ataxia type 5 MONDO:0016227 OMIM:613855 OMIMPS:160120 hereditary episodic ataxia MONDO:0013466 orofacial cleft 13 MONDO:0000358 OMIM:613857 OMIMPS:119530 orofacial cleft MONDO:0013467 immunodeficiency due to ficolin3 deficiency MONDO:0044209 OMIM:613860 OMIMPS:614372 disorder of lectin complement activation pathway MONDO:0013468 retinitis pigmentosa 59 MONDO:0019200 OMIM:613861 OMIMPS:268000 retinitis pigmentosa MONDO:0013469 retinitis pigmentosa 38 MONDO:0019200 OMIM:613862 OMIMPS:268000 retinitis pigmentosa MONDO:0013470 generalized epilepsy with febrile seizures plus, type 7 MONDO:0018214 OMIM:613863 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0013471 autosomal recessive nonsyndromic hearing loss 61 MONDO:0019588 OMIM:613865 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013472 fatal infantile hypertonic myofibrillar myopathy MONDO:0018943 OMIM:613869 OMIMPS:601419 myofibrillar myopathy MONDO:0013474 hypertrophic cardiomyopathy 17 MONDO:0024573 OMIM:613873 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013475 hypertrophic cardiomyopathy 18 MONDO:0024573 OMIM:613874 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013477 hypertrophic cardiomyopathy 20 MONDO:0024573 OMIM:613876 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013478 PLIN1-related familial partial lipodystrophy MONDO:0020088 OMIM:613877 OMIMPS:151660 familial partial lipodystrophy MONDO:0013482 Meckel syndrome, type 8 MONDO:0018921 OMIM:613885 OMIMPS:249000 Meckel syndrome MONDO:0013484 cataract 36 MONDO:0005129 OMIM:613887 OMIMPS:116200 cataract MONDO:0013489 autosomal recessive nonsyndromic hearing loss 89 MONDO:0019588 OMIM:613916 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013492 alopecia-intellectual disability syndrome 3 MONDO:0008756 OMIM:613930 OMIMPS:203650 alopecia - intellectual disability syndrome MONDO:0013495 autosomal recessive congenital ichthyosis 8 MONDO:0017265 OMIM:613943 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0013496 IgA nephropathy, susceptibility to, 2 MONDO:0100555 OMIM:613944 OMIMPS:161950 IgA nephropathy, susceptibility to MONDO:0013499 Fanconi anemia complementation group P MONDO:0019391 OMIM:613951 OMIMPS:227650 Fanconi anemia MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 MONDO:0005144 OMIM:613954 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 MONDO:0017161 OMIM:613954 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0013502 amyloidosis, primary localized cutaneous, 2 MONDO:0007101 OMIM:613955 OMIMPS:105250 familial primary localized cutaneous amyloidosis MONDO:0013503 candidiasis, familial, 6 MONDO:0015279 OMIM:613956 OMIMPS:114580 chronic mucocutaneous candidiasis MONDO:0013504 spermatogenic failure 8 MONDO:0004983 OMIM:613957 OMIMPS:258150 spermatogenic failure MONDO:0013505 spermatogenic failure 9 MONDO:0004983 OMIM:613958 OMIMPS:258150 spermatogenic failure MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 MONDO:0018305 OMIM:613960 OMIMPS:306400 chronic granulomatous disease MONDO:0013508 myopia 19, autosomal dominant MONDO:0001384 OMIM:613969 OMIMPS:160700 myopia MONDO:0013509 intellectual disability, autosomal dominant 6 MONDO:0100172 OMIM:613970 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013510 melanoma, cutaneous malignant, susceptibility to, 6 MONDO:0024462 OMIM:613972 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0013513 atrial fibrillation, familial, 9 MONDO:0018054 OMIM:613980 OMIMPS:608583 familial atrial fibrillation MONDO:0013514 hypotrichosis 3 MONDO:0003037 OMIM:613981 OMIMPS:605389 hypotrichosis MONDO:0013516 retinitis pigmentosa 60 MONDO:0019200 OMIM:613983 OMIMPS:268000 retinitis pigmentosa MONDO:0013518 pituitary hormone deficiency, combined, 6 MONDO:0013099 OMIM:613986 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0013519 dyskeratosis congenita, autosomal recessive 2 MONDO:0015780 OMIM:613987 OMIMPS:127550 dyskeratosis congenita MONDO:0013520 dyskeratosis congenita, autosomal recessive 3 MONDO:0015780 OMIM:613988 OMIMPS:127550 dyskeratosis congenita MONDO:0013521 dyskeratosis congenita, autosomal dominant 2 MONDO:0015780 OMIM:613989 OMIMPS:127550 dyskeratosis congenita MONDO:0013522 dyskeratosis congenita, autosomal dominant 3 MONDO:0015780 OMIM:613990 OMIMPS:127550 dyskeratosis congenita MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0020732 OMIM:614008 OMIMPS:176670 progeria MONDO:0013525 primary ciliary dyskinesia 16 MONDO:0016575 OMIM:614017 OMIMPS:244400 primary ciliary dyskinesia MONDO:0013526 progressive myoclonic epilepsy type 6 MONDO:0020074 OMIM:614018 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0013528 intellectual disability, autosomal recessive 14 MONDO:0019502 OMIM:614020 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013529 catecholaminergic polymorphic ventricular tachycardia 3 MONDO:0017990 OMIM:614021 OMIMPS:604772 catecholaminergic polymorphic ventricular tachycardia MONDO:0013530 atrial fibrillation, familial, 10 MONDO:0018054 OMIM:614022 OMIMPS:608583 familial atrial fibrillation MONDO:0013537 autosomal recessive nonsyndromic hearing loss 29 MONDO:0019588 OMIM:614035 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0000904 OMIM:614039 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0013542 Moyamoya disease 5 MONDO:0016820 OMIM:614042 OMIMPS:252350 Moyamoya disease MONDO:0013544 atrial fibrillation, familial, 11 MONDO:0018054 OMIM:614049 OMIMPS:608583 familial atrial fibrillation MONDO:0013545 atrial fibrillation, familial, 12 MONDO:0018054 OMIM:614050 OMIMPS:608583 familial atrial fibrillation MONDO:0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 MONDO:0014471 OMIM:614053 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0013551 hereditary spastic paraplegia 47 MONDO:0019064 OMIM:614066 OMIMPS:303350 hereditary spastic paraplegia MONDO:0013552 hereditary spastic paraplegia 52 MONDO:0019064 OMIM:614067 OMIMPS:303350 hereditary spastic paraplegia MONDO:0013553 immunodeficiency-centromeric instability-facial anomalies syndrome 2 MONDO:0000133 OMIM:614069 OMIMPS:242860 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0013559 Hermansky-Pudlak syndrome 7 MONDO:0019312 OMIM:614076 OMIMPS:203300 Hermansky-Pudlak syndrome MONDO:0013560 Hermansky-Pudlak syndrome 8 MONDO:0019312 OMIM:614077 OMIMPS:203300 Hermansky-Pudlak syndrome MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0100247 OMIM:614080 OMIMPS:614080 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0013565 Fanconi anemia complementation group G MONDO:0019391 OMIM:614082 OMIMPS:227650 Fanconi anemia MONDO:0013566 Fanconi anemia complementation group L MONDO:0019391 OMIM:614083 OMIMPS:227650 Fanconi anemia MONDO:0013567 atrial septal defect 3 MONDO:0006664 OMIM:614089 OMIMPS:108800 atrial septal defect MONDO:0013569 short-rib thoracic dysplasia 7 with or without polydactyly MONDO:0018770 OMIM:614091 OMIMPS:208500 Jeune syndrome MONDO:0013570 combined oxidative phosphorylation defect type 8 MONDO:0000732 OMIM:614096 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013573 cranioectodermal dysplasia 3 MONDO:0009032 OMIM:614099 OMIMPS:218330 cranioectodermal dysplasia MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency MONDO:0019169 OMIM:614111 OMIMPS:312170 pyruvate dehydrogenase deficiency MONDO:0013581 intellectual disability, autosomal dominant 2 MONDO:0100172 OMIM:614113 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013582 mosaic variegated aneuploidy syndrome 2 MONDO:0000141 OMIM:614114 OMIMPS:257300 mosaic variegated aneuploidy syndrome MONDO:0013585 hydrolethalus syndrome 2 MONDO:0006037 OMIM:614120 OMIMPS:236680 hydrolethalus syndrome MONDO:0013588 Perrault syndrome 3 MONDO:0017312 OMIM:614129 OMIMPS:233400 Perrault syndrome MONDO:0013589 focal segmental glomerulosclerosis 6 MONDO:0005363 OMIM:614131 OMIMPS:603278 inherited focal segmental glomerulosclerosis MONDO:0013590 Stickler syndrome, type 4 MONDO:0019354 OMIM:614134 OMIMPS:108300 Stickler syndrome MONDO:0013593 autosomal dominant nonsyndromic hearing loss 64 MONDO:0019587 OMIM:614152 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0013597 platelet-type bleeding disorder 14 MONDO:0000009 OMIM:614158 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0015279 OMIM:614162 OMIMPS:114580 chronic mucocutaneous candidiasis MONDO:0013602 paragangliomas 5 MONDO:0000448 OMIM:614165 OMIMPS:168000 paraganglioma MONDO:0013603 myopia 20, autosomal dominant MONDO:0001384 OMIM:614166 OMIMPS:160700 myopia MONDO:0013604 myopia 21, autosomal dominant MONDO:0001384 OMIM:614167 OMIMPS:160700 myopia MONDO:0013605 brittle cornea syndrome 2 MONDO:0009242 OMIM:614170 OMIMPS:229200 brittle cornea syndrome MONDO:0013606 Hermansky-Pudlak syndrome 9 MONDO:0019312 OMIM:614171 OMIMPS:203300 Hermansky-Pudlak syndrome MONDO:0013608 Joubert syndrome 13 MONDO:0018772 OMIM:614173 OMIMPS:213300 Joubert syndrome MONDO:0013609 Meckel syndrome, type 10 MONDO:0018921 OMIM:614175 OMIMPS:249000 Meckel syndrome MONDO:0013610 retinitis pigmentosa 61 MONDO:0019200 OMIM:614180 OMIMPS:268000 retinitis pigmentosa MONDO:0013611 retinitis pigmentosa 62 MONDO:0019200 OMIM:614181 OMIMPS:268000 retinitis pigmentosa MONDO:0013612 geleophysic dysplasia 2 MONDO:0000127 OMIM:614185 OMIMPS:231050 geleophysic dysplasia MONDO:0013613 Leber congenital amaurosis 16 MONDO:0018998 OMIM:614186 OMIMPS:204000 Leber congenital amaurosis MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 MONDO:0015999 OMIM:614190 OMIMPS:610489 primary pigmented nodular adrenocortical disease MONDO:0013621 LAMB2-related infantile-onset nephrotic syndrome MONDO:0002350 OMIM:614199 OMIMPS:256300 familial nephrotic syndrome MONDO:0013622 platelet-type bleeding disorder 9 MONDO:0000009 OMIM:614200 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0013623 platelet-type bleeding disorder 11 MONDO:0000009 OMIM:614201 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0013624 Rafiq syndrome MONDO:0019502 OMIM:614202 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013626 psoriasis 14, pustular MONDO:0005083 OMIM:614204 OMIMPS:177900 psoriasis MONDO:0013627 3M syndrome 3 MONDO:0007477 OMIM:614205 OMIMPS:273750 3-M syndrome MONDO:0013628 hyperphosphatasia with intellectual disability syndrome 3 MONDO:0016596 OMIM:614207 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0013629 intellectual disability, autosomal recessive 16 MONDO:0019502 OMIM:614208 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013630 Meckel syndrome, type 9 MONDO:0018921 OMIM:614209 OMIMPS:249000 Meckel syndrome MONDO:0013632 autosomal dominant nonsyndromic hearing loss 33 MONDO:0019587 OMIM:614211 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0013635 Adams-Oliver syndrome 2 MONDO:0007034 OMIM:614219 OMIMPS:100300 Adams-Oliver syndrome MONDO:0013636 primary biliary cholangitis 4 MONDO:0005388 OMIM:614220 OMIMPS:109720 primary biliary cholangitis MONDO:0013637 primary biliary cholangitis 5 MONDO:0005388 OMIM:614221 OMIMPS:109720 primary biliary cholangitis MONDO:0013638 Warburg micro syndrome 3 MONDO:0016649 OMIM:614222 OMIMPS:600118 Warburg micro syndrome MONDO:0013641 Warburg micro syndrome 2 MONDO:0016649 OMIM:614225 OMIMPS:600118 Warburg micro syndrome MONDO:0013642 holoprosencephaly 11 MONDO:0016296 OMIM:614226 OMIMPS:236100 holoprosencephaly MONDO:0013649 hypotrichosis 9 MONDO:0003037 OMIM:614237 OMIMPS:605389 hypotrichosis MONDO:0013650 hypotrichosis 10 MONDO:0003037 OMIM:614238 OMIMPS:605389 hypotrichosis MONDO:0013651 intellectual disability, autosomal recessive 18 MONDO:0019502 OMIM:614249 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013652 narcolepsy 7 MONDO:0100554 OMIM:614250 OMIMPS:161400 hereditary narcolepsy MONDO:0013654 aneurysm, intracranial berry, 11 MONDO:0016483 OMIM:614252 OMIMPS:105800 intracranial berry aneurysm MONDO:0013657 intellectual disability, autosomal dominant 10 MONDO:0100172 OMIM:614256 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013658 intellectual disability, autosomal dominant 11 MONDO:0100172 OMIM:614257 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0013664 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency MONDO:0010765 OMIM:614279 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0013666 Stickler syndrome, type 5 MONDO:0019354 OMIM:614284 OMIMPS:108300 Stickler syndrome MONDO:0013669 breast-ovarian cancer, familial, susceptibility to, 4 MONDO:0100526 OMIM:614291 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to MONDO:0013674 neurodegeneration with brain iron accumulation 4 MONDO:0018307 OMIM:614298 OMIMPS:234200 neurodegeneration with brain iron accumulation MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 MONDO:0017338 OMIM:614299 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0013679 sclerosteosis 2 MONDO:0017838 OMIM:614305 OMIMPS:269500 sclerosteosis MONDO:0013682 vesicoureteral reflux 4 MONDO:0017329 OMIM:614317 OMIMPS:193000 familial vesicoureteral reflux MONDO:0013683 vesicoureteral reflux 5 MONDO:0017329 OMIM:614318 OMIMPS:193000 familial vesicoureteral reflux MONDO:0013684 vesicoureteral reflux 6 MONDO:0017329 OMIM:614319 OMIMPS:193000 familial vesicoureteral reflux MONDO:0013689 ovarian dysgenesis 3 MONDO:0009299 OMIM:614324 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0013691 Feingold syndrome type 2 MONDO:0015267 OMIM:614326 OMIMPS:164280 Feingold syndrome MONDO:0013694 intellectual disability, autosomal recessive 31 MONDO:0019502 OMIM:614329 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 MONDO:0018630 OMIM:614331 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013697 intellectual disability, autosomal recessive 29 MONDO:0019502 OMIM:614333 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013699 Lynch syndrome 4 MONDO:0018630 OMIM:614337 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013702 intellectual disability, autosomal recessive 27 MONDO:0019502 OMIM:614340 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013703 intellectual disability, autosomal recessive 33 MONDO:0019502 OMIM:614341 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013704 intellectual disability, autosomal recessive 30 MONDO:0019502 OMIM:614342 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013706 intellectual disability, autosomal recessive 23 MONDO:0019502 OMIM:614344 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013707 intellectual disability, autosomal recessive 24 MONDO:0019502 OMIM:614345 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013708 intellectual disability, autosomal recessive 25 MONDO:0019502 OMIM:614346 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013709 intellectual disability, autosomal recessive 28 MONDO:0019502 OMIM:614347 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013710 Lynch syndrome 5 MONDO:0018630 OMIM:614350 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013712 surfactant metabolism dysfunction, pulmonary, 5 MONDO:0012580 OMIM:614370 OMIMPS:265120 hereditary pulmonary alveolar proteinosis MONDO:0013714 mannose-binding lectin deficiency MONDO:0044209 OMIM:614372 OMIMPS:614372 disorder of lectin complement activation pathway MONDO:0013716 aortic aneurysm, familial abdominal, 4 MONDO:0007031 OMIM:614375 OMIMPS:100070 familial abdominal aortic aneurysm MONDO:0013717 asphyxiating thoracic dystrophy 5 MONDO:0018770 OMIM:614376 OMIMPS:208500 Jeune syndrome MONDO:0013718 nephronophthisis 13 MONDO:0019005 OMIM:614377 OMIMPS:256100 nephronophthisis MONDO:0013719 cranioectodermal dysplasia 4 MONDO:0009032 OMIM:614378 OMIMPS:218330 cranioectodermal dysplasia MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 MONDO:0018630 OMIM:614385 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:0054865 OMIM:614388 OMIMPS:614388 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0013731 MEGF10-related myopathy MONDO:0019952 OMIM:614399 OMIMPS:117000 congenital myopathy MONDO:0013734 microphthalmia, syndromic 11 MONDO:0016073 OMIM:614402 OMIMPS:309800 syndromic microphthalmia MONDO:0013738 autosomal recessive nonsyndromic hearing loss 96 MONDO:0019588 OMIM:614414 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013739 chilblain lupus 2 MONDO:0018827 OMIM:614415 OMIMPS:610448 familial chilblain lupus MONDO:0013741 familial temporal lobe epilepsy 5 MONDO:0005115 OMIM:614417 OMIMPS:600512 temporal lobe epilepsy MONDO:0013745 Joubert syndrome 14 MONDO:0018772 OMIM:614424 OMIMPS:213300 Joubert syndrome MONDO:0013746 ventricular septal defect 1 MONDO:0002070 OMIM:614429 OMIMPS:614429 ventricular septal defect MONDO:0013747 atrioventricular septal defect 4 MONDO:0020290 OMIM:614430 OMIMPS:606215 familial atrioventricular septal defect MONDO:0013748 ventricular septal defect 2 MONDO:0002070 OMIM:614431 OMIMPS:614429 ventricular septal defect MONDO:0013749 ventricular septal defect 3 MONDO:0002070 OMIM:614432 OMIMPS:614429 ventricular septal defect MONDO:0013750 atrial septal defect 8 MONDO:0006664 OMIM:614433 OMIMPS:108800 atrial septal defect MONDO:0013752 hypoplastic left heart syndrome 2 MONDO:0004933 OMIM:614435 OMIMPS:241550 hypoplastic left heart syndrome MONDO:0013755 PYCR1-related de Barsy syndrome MONDO:0100237 OMIM:614438 OMIMPS:123700 inherited cutis laxa MONDO:0013756 hypertrophic osteoarthropathy, primary, autosomal recessive, 2 MONDO:0016620 OMIM:614441 OMIMPS:259100 primary hypertrophic osteoarthropathy MONDO:0013757 congenital nongoitrous hypothyroidism 6 MONDO:0000045 OMIM:614450 OMIMPS:275200 hypothyroidism, congenital, nongoitrous MONDO:0013759 melanoma, cutaneous malignant, susceptibility to, 8 MONDO:0024462 OMIM:614456 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency MONDO:0000152 OMIM:614458 OMIMPS:249270 thiamine-responsive dysfunction syndrome MONDO:0013762 lipoic acid synthetase deficiency MONDO:0019169 OMIM:614462 OMIMPS:312170 pyruvate dehydrogenase deficiency MONDO:0013763 Joubert syndrome 15 MONDO:0018772 OMIM:614464 OMIMPS:213300 Joubert syndrome MONDO:0013764 Joubert syndrome 16 MONDO:0018772 OMIM:614465 OMIMPS:213300 Joubert syndrome MONDO:0013766 familial cold autoinflammatory syndrome 3 MONDO:0018768 OMIM:614468 OMIMPS:120100 familial cold autoinflammatory syndrome MONDO:0013768 arterial calcification, generalized, of infancy, 2 MONDO:0018870 OMIM:614473 OMIMPS:208000 arterial calcification of infancy MONDO:0013769 atrioventricular septal defect 5 MONDO:0020290 OMIM:614474 OMIMPS:606215 familial atrioventricular septal defect MONDO:0013770 atrial septal defect 9 MONDO:0006664 OMIM:614475 OMIMPS:108800 atrial septal defect MONDO:0013773 porencephaly 2 MONDO:0020496 OMIM:614483 OMIMPS:175780 familial porencephaly MONDO:0013774 trigonocephaly 2 MONDO:0018065 OMIM:614485 OMIMPS:190440 isolated trigonocephaly MONDO:0013775 thrombomodulin-related bleeding disorder MONDO:0100240 OMIM:614486 OMIMPS:188050 inherited thrombophilia MONDO:0013777 pseudohypoaldosteronism type 2B MONDO:0019162 OMIM:614491 OMIMPS:145260 pseudohypoaldosteronism type 2 MONDO:0013778 pseudohypoaldosteronism type 2C MONDO:0019162 OMIM:614492 OMIMPS:145260 pseudohypoaldosteronism type 2 MONDO:0013780 retinitis pigmentosa 63 MONDO:0019200 OMIM:614494 OMIMPS:268000 retinitis pigmentosa MONDO:0013781 pseudohypoaldosteronism type 2D MONDO:0019162 OMIM:614495 OMIMPS:145260 pseudohypoaldosteronism type 2 MONDO:0013782 pseudohypoaldosteronism type 2E MONDO:0019162 OMIM:614496 OMIMPS:145260 pseudohypoaldosteronism type 2 MONDO:0013783 microphthalmia, isolated, with coloboma 7 MONDO:0000170 OMIM:614497 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0013785 intellectual disability, autosomal recessive 34 MONDO:0019502 OMIM:614499 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0013786 cone-rod dystrophy 16 MONDO:0015993 OMIM:614500 OMIMPS:120970 cone-rod dystrophy MONDO:0013786 cone-rod dystrophy 16 MONDO:0019200 OMIM:614500 OMIMPS:268000 retinitis pigmentosa MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0005500 OMIM:614507 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0013790 mirror movements 2 MONDO:0016558 OMIM:614508 OMIMPS:157600 familial congenital mirror movements MONDO:0013794 thrombocythemia 3 MONDO:0019111 OMIM:614521 OMIMPS:187950 familial thrombocytosis MONDO:0013795 fibrochondrogenesis 2 MONDO:0016068 OMIM:614524 OMIMPS:228520 fibrochondrogenesis MONDO:0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MONDO:0020066 OMIM:614557 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0013807 congenital stationary night blindness 1E MONDO:0016293 OMIM:614565 OMIMPS:310500 congenital stationary night blindness MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0005501 OMIM:614576 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0013811 combined oxidative phosphorylation defect type 9 MONDO:0000732 OMIM:614582 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013812 Baraitser-winter syndrome 2 MONDO:0017579 OMIM:614583 OMIMPS:243310 Baraitser-Winter cerebrofrontofacial syndrome MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0031615 OMIM:614592 OMIMPS:614592 familial bent bone dysplasia syndrome MONDO:0013817 preeclampsia/eclampsia 5 MONDO:0005081 OMIM:614595 OMIMPS:189800 preeclampsia MONDO:0013818 trichohepatoenteric syndrome 2 MONDO:0009105 OMIM:614602 OMIMPS:222470 trichohepatoenteric syndrome MONDO:0013819 intellectual disability, autosomal dominant 14 MONDO:0015452 OMIM:614607 OMIMPS:135900 Coffin-Siris syndrome MONDO:0013820 intellectual disability, autosomal dominant 15 MONDO:0015452 OMIM:614608 OMIMPS:135900 Coffin-Siris syndrome MONDO:0013821 intellectual disability, autosomal dominant 16 MONDO:0015452 OMIM:614609 OMIMPS:135900 Coffin-Siris syndrome MONDO:0013822 acrodysostosis 2 with or without hormone resistance MONDO:0019797 OMIM:614613 OMIMPS:101800 acrodysostosis MONDO:0013823 autosomal dominant nonsyndromic hearing loss 4B MONDO:0019587 OMIM:614614 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0013824 Joubert syndrome 17 MONDO:0018772 OMIM:614615 OMIMPS:213300 Joubert syndrome MONDO:0013825 congenital diarrhea 6 MONDO:0000824 OMIM:614616 OMIMPS:214700 congenital diarrhea MONDO:0013826 autosomal recessive nonsyndromic hearing loss 86 MONDO:0019588 OMIM:614617 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013827 hyperekplexia 3 MONDO:0021022 OMIM:614618 OMIMPS:149400 hereditary hyperekplexia MONDO:0013828 hyperekplexia 2 MONDO:0021022 OMIM:614619 OMIMPS:149400 hereditary hyperekplexia MONDO:0013829 UV-sensitive syndrome 2 MONDO:0015797 OMIM:614621 OMIMPS:600630 UV-sensitive syndrome MONDO:0013830 keratoconus 5 MONDO:0015486 OMIM:614622 OMIMPS:148300 keratoconus MONDO:0013831 keratoconus 6 MONDO:0015486 OMIM:614623 OMIMPS:148300 keratoconus MONDO:0013832 keratoconus 8 MONDO:0015486 OMIM:614628 OMIMPS:148300 keratoconus MONDO:0013833 keratoconus 7 MONDO:0015486 OMIM:614629 OMIMPS:148300 keratoconus MONDO:0013834 UV-sensitive syndrome 3 MONDO:0015797 OMIM:614640 OMIMPS:600630 UV-sensitive syndrome MONDO:0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 MONDO:0000171 OMIM:614643 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0018151 OMIM:614650 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:0018151 OMIM:614651 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0013838 coenzyme Q10 deficiency, primary, 3 MONDO:0018151 OMIM:614652 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0013839 hereditary sensory and autonomic neuropathy type 6 MONDO:0015364 OMIM:614653 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0018151 OMIM:614654 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0013841 stuttering, familial persistent, 3 MONDO:0000723 OMIM:614655 OMIMPS:184450 stutter disorder MONDO:0013842 cortisone reductase deficiency 2 MONDO:0000193 OMIM:614662 OMIMPS:604931 cortisone reductase deficiency MONDO:0013844 stuttering, familial persistent, 4 MONDO:0000723 OMIM:614668 OMIMPS:184450 stutter disorder MONDO:0013845 auriculocondylar syndrome 2 MONDO:0000107 OMIM:614669 OMIMPS:602483 auriculocondylar syndrome MONDO:0013849 microcephaly 8, primary, autosomal recessive MONDO:0016660 OMIM:614673 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0013851 autosomal dominant aplasia and myelodysplasia MONDO:0000159 OMIM:614675 OMIMPS:614675 bone marrow failure syndrome MONDO:0013852 hypertrophic cardiomyopathy 21 MONDO:0024573 OMIM:614676 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0013854 primary ciliary dyskinesia 17 MONDO:0016575 OMIM:614679 OMIMPS:244400 primary ciliary dyskinesia MONDO:0013862 immunodeficiency, common variable, 7 MONDO:0015517 OMIM:614699 OMIMPS:607594 common variable immunodeficiency MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0015517 OMIM:614700 OMIMPS:607594 common variable immunodeficiency MONDO:0013864 Cornelia de Lange syndrome 4 MONDO:0016033 OMIM:614701 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency MONDO:0000732 OMIM:614702 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 MONDO:0008891 OMIM:614707 OMIMPS:211530 riboflavin transporter deficiency MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0005501 OMIM:614727 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0013871 Seckel syndrome 6 MONDO:0019342 OMIM:614728 OMIMPS:210600 Seckel syndrome MONDO:0013874 glucocorticoid deficiency 4 MONDO:0008733 OMIM:614736 OMIMPS:202200 familial glucocorticoid deficiency MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017359 OMIM:614739 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0013878 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 MONDO:0000148 OMIM:614742 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0013879 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 MONDO:0000148 OMIM:614743 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 OMIM:614748 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0013882 hyperphosphatasia with intellectual disability syndrome 2 MONDO:0016596 OMIM:614749 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0013883 congenital myasthenic syndrome 13 MONDO:0000182 OMIM:614750 OMIMPS:610542 congenital myasthenic syndrome with tubular aggregates MONDO:0013887 heterotaxy, visceral, 6, autosomal MONDO:0018677 OMIM:614779 OMIMPS:306955 visceral heterotaxy MONDO:0013888 tremor, hereditary essential, 4 MONDO:0003233 OMIM:614782 OMIMPS:190300 essential tremor MONDO:0013890 congenital myopathy with internal nuclei and atypical cores MONDO:0018947 OMIM:614807 OMIMPS:160150 centronuclear myopathy MONDO:0013891 amyotrophic lateral sclerosis type 18 MONDO:0005144 OMIM:614808 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0013893 multiple sclerosis, susceptibility to, 5 MONDO:0007462 OMIM:614810 OMIMPS:126200 multiple sclerosis, susceptibility to MONDO:0013895 Adams-Oliver syndrome 3 MONDO:0007034 OMIM:614814 OMIMPS:100300 Adams-Oliver syndrome MONDO:0013896 Joubert syndrome 18 MONDO:0018772 OMIM:614815 OMIMPS:213300 Joubert syndrome MONDO:0013897 Loeys-Dietz syndrome 4 MONDO:0018954 OMIM:614816 OMIMPS:609192 Loeys-Dietz syndrome MONDO:0013899 Weill-Marchesani syndrome 3 MONDO:0018096 OMIM:614819 OMIMPS:277600 Weill-Marchesani syndrome MONDO:0013900 alternating hemiplegia of childhood 2 MONDO:0016241 OMIM:614820 OMIMPS:104290 alternating hemiplegia of childhood MONDO:0013901 spermatogenic failure 10 MONDO:0004983 OMIM:614822 OMIMPS:258150 spermatogenic failure MONDO:0013902 aortic valve disease 2 MONDO:0007194 OMIM:614823 OMIMPS:109730 familial bicuspid aortic valve MONDO:0013903 nystagmus 7, congenital, autosomal dominant MONDO:0005712 OMIM:614826 OMIMPS:310700 congenital nystagmus MONDO:0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 MONDO:0000171 OMIM:614830 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia MONDO:0018555 OMIM:614839 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia MONDO:0018555 OMIM:614841 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia MONDO:0018555 OMIM:614842 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0013916 nephronophthisis 14 MONDO:0019005 OMIM:614844 OMIMPS:256100 nephronophthisis MONDO:0013917 nephronophthisis 15 MONDO:0019005 OMIM:614845 OMIMPS:256100 nephronophthisis MONDO:0013922 Seckel syndrome 7 MONDO:0019342 OMIM:614851 OMIMPS:210600 Seckel syndrome MONDO:0013923 microcephaly 9, primary, autosomal recessive MONDO:0016660 OMIM:614852 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0013924 osteogenesis imperfecta type 13 MONDO:0019019 OMIM:614856 OMIMPS:166200 osteogenesis imperfecta MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ MONDO:0016826 OMIM:614857 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0013929 autosomal recessive nonsyndromic hearing loss 98 MONDO:0019588 OMIM:614861 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013940 primary ciliary dyskinesia 18 MONDO:0016575 OMIM:614874 OMIMPS:244400 primary ciliary dyskinesia MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 MONDO:0015363 OMIM:614881 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0013963 autosomal recessive nonsyndromic hearing loss 93 MONDO:0019588 OMIM:614899 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013964 Diamond-Blackfan anemia 11 MONDO:0015253 OMIM:614900 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0013965 lethal congenital contracture syndrome 4 MONDO:0017436 OMIM:614915 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0013966 catecholaminergic polymorphic ventricular tachycardia 4 MONDO:0017990 OMIM:614916 OMIMPS:604772 catecholaminergic polymorphic ventricular tachycardia MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0005500 OMIM:614921 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO:0000732 OMIM:614922 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0000732 OMIM:614924 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013972 Perrault syndrome 2 MONDO:0017312 OMIM:614926 OMIMPS:233400 Perrault syndrome MONDO:0013973 ectodermal dysplasia 5, hair/nail type MONDO:0019287 OMIM:614927 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0013977 combined oxidative phosphorylation defect type 13 MONDO:0000732 OMIM:614932 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013978 autosomal recessive nonsyndromic hearing loss 70 MONDO:0019588 OMIM:614934 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013979 primary ciliary dyskinesia 19 MONDO:0016575 OMIM:614935 OMIMPS:244400 primary ciliary dyskinesia MONDO:0013984 autosomal recessive nonsyndromic hearing loss 84B MONDO:0019588 OMIM:614944 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013985 autosomal recessive nonsyndromic hearing loss 18B MONDO:0019588 OMIM:614945 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013986 combined oxidative phosphorylation defect type 14 MONDO:0000732 OMIM:614946 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013987 combined oxidative phosphorylation defect type 15 MONDO:0000732 OMIM:614947 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0013989 developmental and epileptic encephalopathy, 14 MONDO:0100062 OMIM:614959 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0013990 pontocerebellar hypoplasia type 8 MONDO:0020135 OMIM:614961 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:0020135 OMIM:614969 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0013994 Joubert syndrome 20 MONDO:0018772 OMIM:614970 OMIMPS:213300 Joubert syndrome MONDO:0013997 focal facial dermal dysplasia type IV MONDO:0018363 OMIM:614974 OMIMPS:136500 focal facial dermal dysplasia MONDO:0013998 MEGF8-related Carpenter syndrome MONDO:0019012 OMIM:614976 OMIMPS:201000 Carpenter syndrome MONDO:0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 MONDO:0000030 OMIM:615005 OMIMPS:600513 sleep-related hypermotor epilepsy MONDO:0014003 developmental and epileptic encephalopathy, 15 MONDO:0100062 OMIM:615006 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014004 basal ganglia calcification, idiopathic, 4 MONDO:0008947 OMIM:615007 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0002350 OMIM:615008 OMIMPS:256300 familial nephrotic syndrome MONDO:0014007 Aicardi-Goutieres syndrome 6 MONDO:0018866 OMIM:615010 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:0017610 OMIM:615028 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0019064 OMIM:615030 OMIMPS:303350 hereditary spastic paraplegia MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement MONDO:0018319 OMIM:615040 OMIMPS:615040 familial episodic pain syndrome MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 MONDO:0000171 OMIM:615041 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0005500 OMIM:615042 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0014026 congenital stationary night blindness 1F MONDO:0016293 OMIM:615058 OMIMPS:310500 congenital stationary night blindness MONDO:0014027 hypotrichosis 11 MONDO:0003037 OMIM:615059 OMIMPS:605389 hypotrichosis MONDO:0014028 distal arthrogryposis type 5D MONDO:0019942 OMIM:615065 OMIMPS:108120 distal arthrogryposis MONDO:0014030 primary ciliary dyskinesia 20 MONDO:0016575 OMIM:615067 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014037 spermatogenic failure 11 MONDO:0004983 OMIM:615081 OMIMPS:258150 spermatogenic failure MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0018158 OMIM:615084 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0014040 autosomal recessive osteopetrosis 8 MONDO:0019026 OMIM:615085 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0014042 left ventricular noncompaction 7 MONDO:0018901 OMIM:615092 OMIMPS:604169 left ventricular noncompaction MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:0016660 OMIM:615095 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014046 Cowden syndrome 4 MONDO:0016063 OMIM:615107 OMIMPS:158350 Cowden disease MONDO:0014047 Cowden syndrome 5 MONDO:0016063 OMIM:615108 OMIMPS:158350 Cowden disease MONDO:0014048 Cowden syndrome 6 MONDO:0016063 OMIM:615109 OMIMPS:158350 Cowden disease MONDO:0014049 urofacial syndrome 2 MONDO:0000463 OMIM:615112 OMIMPS:236730 Ochoa syndrome MONDO:0014050 isolated microphthalmia 8 MONDO:0000062 OMIM:615113 OMIMPS:251600 isolated microphthalmia MONDO:0014054 lymphoproliferative syndrome 2 MONDO:0016537 OMIM:615122 OMIMPS:308240 lymphoproliferative syndrome MONDO:0014055 epilepsy, familial adult myoclonic, 4 MONDO:0000160 OMIM:615127 OMIMPS:601068 epilepsy, familial adult myoclonic MONDO:0014056 melanoma, cutaneous malignant, susceptibility to, 9 MONDO:0024462 OMIM:615134 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0014057 maple syrup urine disease, mild variant MONDO:0009563 OMIM:615135 OMIMPS:248600 maple syrup urine disease MONDO:0014059 microphthalmia, isolated, with coloboma 9 MONDO:0000170 OMIM:615145 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0014062 mitochondrial DNA deletion syndrome with progressive myopathy MONDO:0000090 OMIM:615156 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO:0014063 mitochondrial complex III deficiency nuclear type 2 MONDO:0020811 OMIM:615157 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0014064 mitochondrial complex III deficiency nuclear type 3 MONDO:0020811 OMIM:615158 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0014065 mitochondrial complex III deficiency nuclear type 4 MONDO:0020811 OMIM:615159 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 MONDO:0020811 OMIM:615160 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0014068 cone-rod dystrophy 17 MONDO:0015993 OMIM:615163 OMIMPS:120970 cone-rod dystrophy MONDO:0014070 oculocutaneous albinism type 7 MONDO:0018910 OMIM:615179 OMIMPS:203100 oculocutaneous albinism MONDO:0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 MONDO:0000171 OMIM:615181 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0014078 platelet-type bleeding disorder 15 MONDO:0000009 OMIM:615193 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0014079 restless legs syndrome, susceptibility to, 8 MONDO:0100170 OMIM:615197 OMIMPS:102300 restless legs syndrome, susceptibility to MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0021094 OMIM:615207 OMIMPS:300755 immunodeficiency disease MONDO:0014085 hydrocephalus, nonsyndromic, autosomal recessive 2 MONDO:0016349 OMIM:615219 OMIMPS:236600 congenital hydrocephalus MONDO:0014087 Smith-McCort dysplasia 2 MONDO:0015799 OMIM:615222 OMIMPS:607326 Smith-McCort dysplasia MONDO:0014088 advanced sleep phase syndrome 2 MONDO:0015609 OMIM:615224 OMIMPS:604348 advanced sleep phase syndrome MONDO:0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B MONDO:0014471 OMIM:615228 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0014093 retinitis pigmentosa 66 MONDO:0019200 OMIM:615233 OMIMPS:268000 retinitis pigmentosa MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0000104 OMIM:615234 OMIMPS:206100 anemia, hypochromic microcytic with iron overload MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0020088 OMIM:615238 OMIMPS:151660 familial partial lipodystrophy MONDO:0014100 dilated cardiomyopathy 1KK MONDO:0016340 OMIM:615248 OMIMPS:115210 familial restrictive cardiomyopathy MONDO:0014100 dilated cardiomyopathy 1KK MONDO:0024573 OMIM:615248 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0000171 OMIM:615249 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0014104 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 4 MONDO:0009133 OMIM:615268 OMIMPS:224050 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0014108 Fanconi anemia complementation group Q MONDO:0019391 OMIM:615272 OMIMPS:227650 Fanconi anemia MONDO:0014112 cardiofaciocutaneous syndrome 2 MONDO:0015280 OMIM:615278 OMIMPS:115150 cardiofaciocutaneous syndrome MONDO:0014113 cardiofaciocutaneous syndrome 3 MONDO:0015280 OMIM:615279 OMIMPS:115150 cardiofaciocutaneous syndrome MONDO:0014114 cardiofaciocutaneous syndrome 4 MONDO:0015280 OMIM:615280 OMIMPS:115150 cardiofaciocutaneous syndrome MONDO:0014116 complex cortical dysplasia with other brain malformations 2 MONDO:0000904 OMIM:615282 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 MONDO:0000171 OMIM:615287 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:0018190 OMIM:615290 OMIMPS:158600 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0014122 myofibromatosis, infantile, 2 MONDO:0016824 OMIM:615293 OMIMPS:228550 infantile myofibromatosis MONDO:0014123 primary ciliary dyskinesia 21 MONDO:0016575 OMIM:615294 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014124 Adams-Oliver syndrome 4 MONDO:0007034 OMIM:615297 OMIMPS:100300 Adams-Oliver syndrome MONDO:0014125 symphalangism, proximal, 1B MONDO:0008511 OMIM:615298 OMIMPS:185800 proximal symphalangism MONDO:0014126 Perrault syndrome 4 MONDO:0017312 OMIM:615300 OMIMPS:233400 Perrault syndrome MONDO:0014127 oculocutaneous albinism type 5 MONDO:0018910 OMIM:615312 OMIMPS:203100 oculocutaneous albinism MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 MONDO:0017338 OMIM:615330 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0014134 pulmonary hypertension, primary, 2 MONDO:0017148 OMIM:615342 OMIMPS:178600 heritable pulmonary arterial hypertension MONDO:0014135 pulmonary hypertension, primary, 3 MONDO:0017148 OMIM:615343 OMIMPS:178600 heritable pulmonary arterial hypertension MONDO:0014136 pulmonary hypertension, primary, 4 MONDO:0017148 OMIM:615344 OMIMPS:178600 heritable pulmonary arterial hypertension MONDO:0014137 precocious puberty, central, 2 MONDO:0019165 OMIM:615346 OMIMPS:176400 central precocious puberty MONDO:0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0000171 OMIM:615350 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0000172 OMIM:615351 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0000173 OMIM:615352 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0015152 OMIM:615352 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0014143 Noonan syndrome 8 MONDO:0018997 OMIM:615355 OMIMPS:163950 Noonan syndrome MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:0015152 OMIM:615356 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0014145 Leber congenital amaurosis 17 MONDO:0018998 OMIM:615360 OMIMPS:204000 Leber congenital amaurosis MONDO:0014146 autosomal dominant hypocalcemia 2 MONDO:0018543 OMIM:615361 OMIMPS:601198 autosomal dominant hypocalcemia MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:0017436 OMIM:615368 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0014152 left ventricular noncompaction 8 MONDO:0018901 OMIM:615373 OMIMPS:604169 left ventricular noncompaction MONDO:0014153 cone-rod dystrophy 18 MONDO:0015993 OMIM:615374 OMIMPS:120970 cone-rod dystrophy MONDO:0014155 atrial fibrillation, familial, 13 MONDO:0018054 OMIM:615377 OMIMPS:608583 familial atrial fibrillation MONDO:0014156 atrial fibrillation, familial, 14 MONDO:0018054 OMIM:615378 OMIMPS:608583 familial atrial fibrillation MONDO:0014158 nephronophthisis 16 MONDO:0019005 OMIM:615382 OMIMPS:256100 nephronophthisis MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 MONDO:0015244 OMIM:615386 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0014161 vesicoureteral reflux 7 MONDO:0017329 OMIM:615390 OMIMPS:193000 familial vesicoureteral reflux MONDO:0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency MONDO:0000732 OMIM:615395 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014163 left ventricular noncompaction 10 MONDO:0018901 OMIM:615396 OMIMPS:604169 left ventricular noncompaction MONDO:0014164 Meckel syndrome, type 11 MONDO:0018921 OMIM:615397 OMIMPS:249000 Meckel syndrome MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0100247 OMIM:615398 OMIMPS:614080 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0014166 paroxysmal nocturnal hemoglobinuria 2 MONDO:0100244 OMIM:615399 OMIMPS:300818 paroxysmal nocturnal hemoglobinuria MONDO:0014167 epilepsy, familial adult myoclonic, 5 MONDO:0000160 OMIM:615400 OMIMPS:601068 epilepsy, familial adult myoclonic MONDO:0014169 dyschromatosis universalis hereditaria 3 MONDO:0000736 OMIM:615402 OMIMPS:127500 dyschromatosis universalis hereditaria MONDO:0014170 complex cortical dysplasia with other brain malformations 3 MONDO:0000904 OMIM:615411 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0014171 complex cortical dysplasia with other brain malformations 4 MONDO:0000904 OMIM:615412 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0014172 spermatogenic failure 12 MONDO:0004983 OMIM:615413 OMIMPS:258150 spermatogenic failure MONDO:0014173 microcephaly 11, primary, autosomal recessive MONDO:0016660 OMIM:615414 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014174 renal-hepatic-pancreatic dysplasia 2 MONDO:0017417 OMIM:615415 OMIMPS:208540 renal-hepatic-pancreatic dysplasia MONDO:0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive MONDO:0018158 OMIM:615418 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0014177 myopia 22, autosomal dominant MONDO:0001384 OMIM:615420 OMIMPS:160700 myopia MONDO:0014178 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0000507 OMIM:615422 OMIMPS:167320 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0014179 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0000507 OMIM:615424 OMIMPS:167320 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency MONDO:0017610 OMIM:615425 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0014181 amyotrophic lateral sclerosis type 20 MONDO:0005144 OMIM:615426 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0014182 autosomal recessive nonsyndromic hearing loss 88 MONDO:0019588 OMIM:615429 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0014183 myopia 23, autosomal recessive MONDO:0001384 OMIM:615431 OMIMPS:160700 myopia MONDO:0014184 specific language impairment 5 MONDO:0000724 OMIM:615432 OMIMPS:606711 specific language impairment MONDO:0014186 retinitis pigmentosa with or without situs inversus MONDO:0019200 OMIM:615434 OMIMPS:268000 retinitis pigmentosa MONDO:0014187 aortic aneurysm, familial thoracic 8 MONDO:0019625 OMIM:615436 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0014190 combined oxidative phosphorylation defect type 17 MONDO:0000732 OMIM:615440 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014191 catecholaminergic polymorphic ventricular tachycardia 5 MONDO:0017990 OMIM:615441 OMIMPS:604772 catecholaminergic polymorphic ventricular tachycardia MONDO:0014192 primary ciliary dyskinesia 22 MONDO:0016575 OMIM:615444 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014193 primary ciliary dyskinesia 23 MONDO:0016575 OMIM:615451 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014194 mitochondrial complex III deficiency nuclear type 6 MONDO:0020811 OMIM:615453 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0014199 developmental and epileptic encephalopathy, 17 MONDO:0100062 OMIM:615473 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014201 developmental and epileptic encephalopathy, 18 MONDO:0100062 OMIM:615476 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014202 primary ciliary dyskinesia 24 MONDO:0016575 OMIM:615481 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014203 primary ciliary dyskinesia 25 MONDO:0016575 OMIM:615482 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014204 basal ganglia calcification, idiopathic, 5 MONDO:0008947 OMIM:615483 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0014207 age related macular degeneration 14 MONDO:0005150 OMIM:615489 OMIMPS:603075 age-related macular degeneration MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0019064 OMIM:615491 OMIMPS:303350 hereditary spastic paraplegia MONDO:0014211 primary ciliary dyskinesia 26 MONDO:0016575 OMIM:615500 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0020480 OMIM:615501 OMIMPS:252150 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0014214 short-rib thoracic dysplasia 8 with or without polydactyly MONDO:0018770 OMIM:615503 OMIMPS:208500 Jeune syndrome MONDO:0014215 primary ciliary dyskinesia 27 MONDO:0016575 OMIM:615504 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014216 primary ciliary dyskinesia 28 MONDO:0016575 OMIM:615505 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014217 telangiectasia, hereditary hemorrhagic, type 5 MONDO:0019180 OMIM:615506 OMIMPS:187300 hereditary hemorrhagic telangiectasia MONDO:0014223 amyotrophic lateral sclerosis type 19 MONDO:0005144 OMIM:615515 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0014225 hemochromatosis type 5 MONDO:0006507 OMIM:615517 OMIMPS:235200 hereditary hemochromatosis MONDO:0014226 idiopathic CD4 lymphocytopenia MONDO:0021094 OMIM:615518 OMIMPS:300755 immunodeficiency disease MONDO:0014228 corneal dystrophy, Fuchs endothelial, 8 MONDO:0005321 OMIM:615523 OMIMPS:136800 Fuchs' endothelial dystrophy MONDO:0014229 microphthalmia, syndromic 12 MONDO:0016073 OMIM:615524 OMIMPS:309800 syndromic microphthalmia MONDO:0014230 candidiasis, familial, 8 MONDO:0015279 OMIM:615527 OMIMPS:114580 chronic mucocutaneous candidiasis MONDO:0014234 reticulate acropigmentation of Kitamura MONDO:0000118 OMIM:615537 OMIMPS:179850 reticulate pigment disorder MONDO:0014237 autosomal recessive nonsyndromic hearing loss 76 MONDO:0019588 OMIM:615540 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0014240 periventricular nodular heterotopia 6 MONDO:0020341 OMIM:615544 OMIMPS:300049 periventricular nodular heterotopia MONDO:0014242 van Maldergem syndrome 2 MONDO:0017813 OMIM:615546 OMIMPS:601390 van Maldergem syndrome MONDO:0014244 hereditary sensory and autonomic neuropathy type 7 MONDO:0015364 OMIM:615548 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0014245 Diamond-Blackfan anemia 12 MONDO:0015253 OMIM:615550 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0014246 episodic pain syndrome, familial, 2 MONDO:0018319 OMIM:615551 OMIMPS:615040 familial episodic pain syndrome MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement MONDO:0018319 OMIM:615552 OMIMPS:615040 familial episodic pain syndrome MONDO:0014254 otofaciocervical syndrome 2 MONDO:0008163 OMIM:615560 OMIMPS:166780 otofaciocervical syndrome MONDO:0014256 retinitis pigmentosa 67 MONDO:0019200 OMIM:615565 OMIMPS:268000 retinitis pigmentosa MONDO:0014260 immunodeficiency, common variable, 10 MONDO:0015517 OMIM:615577 OMIMPS:607594 common variable immunodeficiency MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO:0000732 OMIM:615578 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014262 Rienhoff syndrome MONDO:0018954 OMIM:615582 OMIMPS:609192 Loeys-Dietz syndrome MONDO:0014264 otosclerosis 10 MONDO:0005349 OMIM:615589 OMIMPS:166800 otosclerosis MONDO:0014269 combined oxidative phosphorylation deficiency 19 MONDO:0000732 OMIM:615595 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0005500 OMIM:615596 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0005500 OMIM:615597 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0014277 developmental dysplasia of the hip 2 MONDO:0000158 OMIM:615612 OMIMPS:142700 developmental dysplasia of the hip MONDO:0014278 immunodeficiency 18 MONDO:0031520 OMIM:615615 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0014280 immunodeficiency 19 MONDO:0031520 OMIM:615617 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0014283 autosomal dominant nonsyndromic hearing loss 56 MONDO:0019587 OMIM:615629 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014284 short-rib thoracic dysplasia 10 with or without polydactyly MONDO:0018770 OMIM:615630 OMIMPS:208500 Jeune syndrome MONDO:0014287 short-rib thoracic dysplasia 11 with or without polydactyly MONDO:0018770 OMIM:615633 OMIMPS:208500 Jeune syndrome MONDO:0014288 Joubert syndrome 21 MONDO:0018772 OMIM:615636 OMIMPS:213300 Joubert syndrome MONDO:0014290 neurodegeneration with brain iron accumulation 6 MONDO:0018307 OMIM:615643 OMIMPS:234200 neurodegeneration with brain iron accumulation MONDO:0014291 autosomal dominant nonsyndromic hearing loss 54 MONDO:0019587 OMIM:615649 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014293 autosomal dominant nonsyndromic hearing loss 58 MONDO:0019587 OMIM:615654 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014296 Warburg micro syndrome 4 MONDO:0016649 OMIM:615663 OMIMPS:600118 Warburg micro syndrome MONDO:0014297 Joubert syndrome 22 MONDO:0018772 OMIM:615665 OMIMPS:213300 Joubert syndrome MONDO:0014299 LZTR1-related schwannomatosis MONDO:0008075 OMIM:615670 OMIMPS:162091 schwannomatosis MONDO:0014308 familial temporal lobe epilepsy 6 MONDO:0005115 OMIM:615697 OMIMPS:600512 temporal lobe epilepsy MONDO:0014312 auriculocondylar syndrome 3 MONDO:0000107 OMIM:615706 OMIMPS:602483 auriculocondylar syndrome MONDO:0014317 pancytopenia-developmental delay syndrome MONDO:0000159 OMIM:615715 OMIMPS:614675 bone marrow failure syndrome MONDO:0014318 hyperphosphatasia with intellectual disability syndrome 4 MONDO:0016596 OMIM:615716 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0014319 renal hypodysplasia/aplasia 2 MONDO:0018470 OMIM:615721 OMIMPS:191830 renal agenesis MONDO:0014321 premature ovarian failure 8 MONDO:0019852 OMIM:615723 OMIMPS:311360 inherited primary ovarian failure MONDO:0014322 premature ovarian failure 9 MONDO:0019852 OMIM:615724 OMIMPS:311360 inherited primary ovarian failure MONDO:0014323 retinitis pigmentosa 68 MONDO:0019200 OMIM:615725 OMIMPS:268000 retinitis pigmentosa MONDO:0014324 pachyonychia congenita 3 MONDO:0016471 OMIM:615726 OMIMPS:167200 pachyonychia congenita MONDO:0014325 pachyonychia congenita 4 MONDO:0016471 OMIM:615728 OMIMPS:167200 pachyonychia congenita MONDO:0014328 developmental and epileptic encephalopathy, 19 MONDO:0100062 OMIM:615744 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014331 Moyamoya disease with early-onset achalasia MONDO:0016820 OMIM:615750 OMIMPS:252350 Moyamoya disease MONDO:0014337 complex cortical dysplasia with other brain malformations 5 MONDO:0000904 OMIM:615763 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0014338 IL21-related infantile inflammatory bowel disease MONDO:0015517 OMIM:615767 OMIMPS:607594 common variable immunodeficiency MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 MONDO:0015244 OMIM:615768 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0014340 atrial fibrillation, familial, 15 MONDO:0018054 OMIM:615770 OMIMPS:608583 familial atrial fibrillation MONDO:0014341 complex cortical dysplasia with other brain malformations 6 MONDO:0000904 OMIM:615771 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0014342 female infertility due to zona pellucida defect MONDO:0014769 OMIM:615774 OMIMPS:615774 inherited oocyte maturation defect MONDO:0014343 Desbuquois dysplasia 2 MONDO:0015426 OMIM:615777 OMIMPS:251450 Desbuquois dysplasia MONDO:0014345 retinitis pigmentosa 69 MONDO:0019200 OMIM:615780 OMIMPS:268000 retinitis pigmentosa MONDO:0014346 white sponge nevus 2 MONDO:0015748 OMIM:615785 OMIMPS:193900 hereditary mucosal leukokeratosis MONDO:0014347 Rothmund-Thomson syndrome, type 3 MONDO:0010002 OMIM:615789 OMIMPS:268400 Rothmund-Thomson syndrome MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0020135 OMIM:615803 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0014350 Seckel syndrome 8 MONDO:0019342 OMIM:615807 OMIMPS:210600 Seckel syndrome MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:0020135 OMIM:615809 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0014352 abdominal obesity-metabolic syndrome 3 MONDO:0000816 OMIM:615812 OMIMPS:605552 abdominal obesity-metabolic syndrome MONDO:0014353 immunodeficiency 23 MONDO:0021094 OMIM:615816 OMIMPS:300755 immunodeficiency disease MONDO:0014354 intellectual disability, autosomal recessive 43 MONDO:0019502 OMIM:615817 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014356 mitochondrial complex III deficiency nuclear type 7 MONDO:0020811 OMIM:615824 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0014357 intellectual disability, autosomal dominant 24 MONDO:0100172 OMIM:615828 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 MONDO:0015999 OMIM:615830 OMIMPS:610489 primary pigmented nodular adrenocortical disease MONDO:0014363 autosomal recessive nonsyndromic hearing loss 101 MONDO:0019588 OMIM:615837 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0014364 mitochondrial complex III deficiency nuclear type 8 MONDO:0020811 OMIM:615838 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0014365 spermatogenic failure 13 MONDO:0004983 OMIM:615841 OMIMPS:258150 spermatogenic failure MONDO:0014366 spermatogenic failure 14 MONDO:0004983 OMIM:615842 OMIMPS:258150 spermatogenic failure MONDO:0014367 Aicardi-Goutieres syndrome 7 MONDO:0018866 OMIM:615846 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0014368 tumor predisposition syndrome 3 MONDO:0024462 OMIM:615848 OMIMPS:155600 susceptibility to familial cutaneous melanoma MONDO:0014370 pontocerebellar hypoplasia type 2E MONDO:0020135 OMIM:615851 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0100062 OMIM:615859 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014372 cone-rod dystrophy 19 MONDO:0015993 OMIM:615860 OMIMPS:120970 cone-rod dystrophy MONDO:0014374 nephronophthisis 18 MONDO:0019005 OMIM:615862 OMIMPS:256100 nephronophthisis MONDO:0014375 congenital diarrhea 7 with exudative enteropathy MONDO:0000824 OMIM:615863 OMIMPS:214700 congenital diarrhea MONDO:0014376 intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MONDO:0015452 OMIM:615866 OMIMPS:135900 Coffin-Siris syndrome MONDO:0014378 primary ciliary dyskinesia 29 MONDO:0016575 OMIM:615872 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0016073 OMIM:615877 OMIMPS:309800 syndromic microphthalmia MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 MONDO:0015762 OMIM:615878 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0014383 myopathy, tubular aggregate, 2 MONDO:0008051 OMIM:615883 OMIMPS:160565 tubular aggregate myopathy MONDO:0014384 hypotrichosis 12 MONDO:0003037 OMIM:615885 OMIMPS:605389 hypotrichosis MONDO:0014386 platelet-type bleeding disorder 18 MONDO:0000009 OMIM:615888 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0014388 familial median cleft of the upper and lower lips MONDO:0000358 OMIM:615892 OMIMPS:119530 orofacial cleft MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0000192 OMIM:615895 OMIMPS:615895 polyglucosan body myopathy MONDO:0014390 hypotrichosis 13 MONDO:0003037 OMIM:615896 OMIMPS:605389 hypotrichosis MONDO:0014393 lymphatic malformation 4 MONDO:0019313 OMIM:615907 OMIMPS:153100 lymphatic malformation MONDO:0014394 Diamond-Blackfan anemia 13 MONDO:0015253 OMIM:615909 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 MONDO:0005144 OMIM:615911 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0014395 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 MONDO:0017161 OMIM:615911 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO:0000732 OMIM:615917 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO:0000732 OMIM:615918 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0011457 OMIM:615919 OMIMPS:604391 ataxia-telangiectasia-like disorder MONDO:0014400 retinitis pigmentosa 70 MONDO:0019200 OMIM:615922 OMIMPS:268000 retinitis pigmentosa MONDO:0014406 pancreatic agenesis 2 MONDO:0009832 OMIM:615935 OMIMPS:260370 pancreatic agenesis MONDO:0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MONDO:0019375 OMIM:615937 OMIMPS:603387 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MONDO:0019375 OMIM:615938 OMIMPS:603387 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome MONDO:0014409 intellectual disability, autosomal recessive 44 MONDO:0019502 OMIM:615942 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014411 myopia 24, autosomal dominant MONDO:0001384 OMIM:615946 OMIMPS:160700 myopia MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0015375 OMIM:615948 OMIMPS:311200 orofaciodigital syndrome MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0000213 OMIM:615952 OMIMPS:615952 autoimmune disease, multisystem, infantile-onset MONDO:0014422 vesicoureteral reflux 8 MONDO:0017329 OMIM:615963 OMIMPS:193000 familial vesicoureteral reflux MONDO:0014426 nanophthalmos 4 MONDO:0005514 OMIM:615972 OMIMPS:600165 nanophthalmia MONDO:0014427 cone-rod dystrophy 20 MONDO:0015993 OMIM:615973 OMIMPS:120970 cone-rod dystrophy MONDO:0014428 autosomal recessive nonsyndromic hearing loss 102 MONDO:0019588 OMIM:615974 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0014430 intellectual disability, autosomal recessive 45 MONDO:0019502 OMIM:615979 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014431 LIPE-related familial partial lipodystrophy MONDO:0020088 OMIM:615980 OMIMPS:151660 familial partial lipodystrophy MONDO:0014432 Bardet-Biedl syndrome 2 MONDO:0015229 OMIM:615981 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014433 Bardet-Biedl syndrome 4 MONDO:0015229 OMIM:615982 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014434 Bardet-Biedl syndrome 5 MONDO:0015229 OMIM:615983 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014435 Bardet-Biedl syndrome 7 MONDO:0015229 OMIM:615984 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014436 Bardet-Biedl syndrome 8 MONDO:0015229 OMIM:615985 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014437 Bardet-Biedl syndrome 9 MONDO:0015229 OMIM:615986 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014438 Bardet-Biedl syndrome 10 MONDO:0015229 OMIM:615987 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014439 Bardet-Biedl syndrome 11 MONDO:0015229 OMIM:615988 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014440 Bardet-Biedl syndrome 12 MONDO:0015229 OMIM:615989 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014441 Bardet-Biedl syndrome 13 MONDO:0015229 OMIM:615990 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014442 Bardet-Biedl syndrome 14 MONDO:0015229 OMIM:615991 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014443 Bardet-Biedl syndrome 15 MONDO:0015229 OMIM:615992 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014444 Bardet-Biedl syndrome 16 MONDO:0015229 OMIM:615993 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014445 Bardet-Biedl syndrome 17 MONDO:0015229 OMIM:615994 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014446 Bardet-Biedl syndrome 18 MONDO:0015229 OMIM:615995 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014447 Bardet-Biedl syndrome 19 MONDO:0015229 OMIM:615996 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 MONDO:0015855 OMIM:616001 OMIMPS:113700 isolated congenital breast hypoplasia/aplasia MONDO:0014451 focal segmental glomerulosclerosis 7 MONDO:0005363 OMIM:616002 OMIMPS:603278 inherited focal segmental glomerulosclerosis MONDO:0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 MONDO:0016256 OMIM:616006 OMIMPS:235510 Hennekam syndrome MONDO:0014457 hyperphosphatasia with intellectual disability syndrome 5 MONDO:0016596 OMIM:616025 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0014458 Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young MONDO:0100238 OMIM:616026 OMIMPS:134600 inherited Fanconi renotubular syndrome MONDO:0014459 Adams-Oliver syndrome 5 MONDO:0007034 OMIM:616028 OMIMPS:100300 Adams-Oliver syndrome MONDO:0014462 focal segmental glomerulosclerosis 8 MONDO:0005363 OMIM:616032 OMIMPS:603278 inherited focal segmental glomerulosclerosis MONDO:0014465 primary ciliary dyskinesia 30 MONDO:0016575 OMIM:616037 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014466 Neu-Laxova syndrome 2 MONDO:0000179 OMIM:616038 OMIMPS:256520 Neu-Laxova syndrome MONDO:0014468 congenital myasthenic syndrome 7 MONDO:0018940 OMIM:616040 OMIMPS:601462 congenital myasthenic syndrome MONDO:0014469 autosomal recessive nonsyndromic hearing loss 103 MONDO:0019588 OMIM:616042 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0014470 autosomal dominant nonsyndromic hearing loss 65 MONDO:0019587 OMIM:616044 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014473 microcephaly 13, primary, autosomal recessive MONDO:0016660 OMIM:616051 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0000173 OMIM:616052 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0015152 OMIM:616052 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0014476 episodic ataxia type 8 MONDO:0016227 OMIM:616055 OMIMPS:160120 hereditary episodic ataxia MONDO:0014478 mirror movements 3 MONDO:0016558 OMIM:616059 OMIMPS:157600 familial congenital mirror movements MONDO:0014480 46,XY sex reversal 9 MONDO:0010765 OMIM:616067 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0014484 microcephaly 12, primary, autosomal recessive MONDO:0016660 OMIM:616080 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0000173 OMIM:616094 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 MONDO:0020811 OMIM:616111 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0014498 familial cold autoinflammatory syndrome 4 MONDO:0018768 OMIM:616115 OMIMPS:120100 familial cold autoinflammatory syndrome MONDO:0014499 intellectual disability, autosomal recessive 46 MONDO:0019502 OMIM:616116 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014504 Perrault syndrome 5 MONDO:0017312 OMIM:616138 OMIMPS:233400 Perrault syndrome MONDO:0014505 developmental and epileptic encephalopathy, 27 MONDO:0100062 OMIM:616139 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014506 hypomyelinating leukodystrophy 9 MONDO:0019046 OMIM:616140 OMIMPS:312080 leukodystrophy MONDO:0014514 aortic aneurysm, familial thoracic 9 MONDO:0019625 OMIM:616166 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0014516 microcephaly and chorioretinopathy 2 MONDO:0000181 OMIM:616171 OMIMPS:251270 microcephaly and chorioretinopathy MONDO:0014517 generalized epilepsy with febrile seizures plus, type 9 MONDO:0018214 OMIM:616172 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0014518 platelet-type bleeding disorder 19 MONDO:0000009 OMIM:616176 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0014521 progressive myoclonic epilepsy type 7 MONDO:0020074 OMIM:616187 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0014524 intellectual disability, autosomal recessive 47 MONDO:0019502 OMIM:616193 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO:0000732 OMIM:616198 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014526 polyglucosan body myopathy type 2 MONDO:0000192 OMIM:616199 OMIMPS:615895 polyglucosan body myopathy MONDO:0014531 amyotrophic lateral sclerosis type 22 MONDO:0005144 OMIM:616208 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0014536 thrombocytopenia 5 MONDO:0100241 OMIM:616216 OMIMPS:313900 inherited thrombocytopenia MONDO:0014537 nephronophthisis 19 MONDO:0019005 OMIM:616217 OMIMPS:256100 nephronophthisis MONDO:0014538 fibrosis of extraocular muscles, congenital, 5 MONDO:0007614 OMIM:616219 OMIMPS:135700 congenital fibrosis of extraocular muscles MONDO:0014539 focal segmental glomerulosclerosis 9 MONDO:0005363 OMIM:616220 OMIMPS:603278 inherited focal segmental glomerulosclerosis MONDO:0014542 congenital myasthenic syndrome 15 MONDO:0018940 OMIM:616227 OMIMPS:601462 congenital myasthenic syndrome MONDO:0014543 congenital myasthenic syndrome 14 MONDO:0000182 OMIM:616228 OMIMPS:610542 congenital myasthenic syndrome with tubular aggregates MONDO:0014545 progressive myoclonic epilepsy type 8 MONDO:0020074 OMIM:616230 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0014547 combined oxidative phosphorylation defect type 24 MONDO:0000732 OMIM:616239 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014548 long QT syndrome 14 MONDO:0019171 OMIM:616247 OMIMPS:192500 familial long QT syndrome MONDO:0014549 lethal congenital contracture syndrome 6 MONDO:0017436 OMIM:616248 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0014550 long QT syndrome 15 MONDO:0019171 OMIM:616249 OMIMPS:192500 familial long QT syndrome MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0018921 OMIM:616258 OMIMPS:249000 Meckel syndrome MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0017359 OMIM:616271 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0018151 OMIM:616276 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0014564 congenital bile acid synthesis defect 5 MONDO:0018841 OMIM:616278 OMIMPS:607765 congenital bile acid synthesis defect MONDO:0014569 lethal congenital contracture syndrome 7 MONDO:0017436 OMIM:616286 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0014570 lethal congenital contracture syndrome 8 MONDO:0017436 OMIM:616287 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0014571 optic atrophy 9 MONDO:0043878 OMIM:616289 OMIMPS:165500 hereditary optic atrophy MONDO:0014572 Lichtenstein-Knorr syndrome MONDO:0015244 OMIM:616291 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0014573 Cole-Carpenter syndrome 2 MONDO:0016085 OMIM:616294 OMIMPS:112240 Cole-Carpenter syndrome MONDO:0014575 Singleton-Merten syndrome 2 MONDO:0008429 OMIM:616298 OMIMPS:182250 Singleton-Merten dysplasia MONDO:0014577 short-rib thoracic dysplasia 13 with or without polydactyly MONDO:0018770 OMIM:616300 OMIMPS:208500 Jeune syndrome MONDO:0014579 Senior-Loken syndrome 8 MONDO:0017842 OMIM:616307 OMIMPS:266900 Senior-Loken syndrome MONDO:0014590 congenital myasthenic syndrome 18 MONDO:0018940 OMIM:616330 OMIMPS:601462 congenital myasthenic syndrome MONDO:0014592 microcephaly and chorioretinopathy 3 MONDO:0000181 OMIM:616335 OMIMPS:251270 microcephaly and chorioretinopathy MONDO:0014594 autosomal dominant nonsyndromic hearing loss 67 MONDO:0019587 OMIM:616340 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014595 developmental and epileptic encephalopathy, 30 MONDO:0100062 OMIM:616341 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014596 lissencephaly 7 with cerebellar hypoplasia MONDO:0018838 OMIM:616342 OMIMPS:607432 lissencephaly spectrum disorders MONDO:0014600 dyskeratosis congenita, autosomal recessive 6 MONDO:0015780 OMIM:616353 OMIMPS:127550 dyskeratosis congenita MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0015244 OMIM:616354 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0014602 Hogue-Janssens syndrome 1 MONDO:0957553 OMIM:616355 OMIMPS:616355 Houge-Janssens syndrome MONDO:0014603 autosomal dominant nonsyndromic hearing loss 40 MONDO:0019587 OMIM:616357 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014605 Houge-Janssens syndrome 2 MONDO:0957553 OMIM:616362 OMIMPS:616355 Houge-Janssens syndrome MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0017338 OMIM:616370 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0014612 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 MONDO:0000148 OMIM:616371 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 MONDO:0000148 OMIM:616373 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0014614 congenital stationary night blindness 1G MONDO:0016293 OMIM:616389 OMIMPS:310500 congenital stationary night blindness MONDO:0014617 intellectual disability, autosomal dominant 38 MONDO:0100172 OMIM:616393 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014618 retinitis pigmentosa 71 MONDO:0019200 OMIM:616394 OMIMPS:268000 retinitis pigmentosa MONDO:0014621 Brugada syndrome 9 MONDO:0015263 OMIM:616399 OMIMPS:601144 Brugada syndrome MONDO:0014623 microcephaly 14, primary, autosomal recessive MONDO:0016660 OMIM:616402 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014628 basal ganglia calcification, idiopathic, 6 MONDO:0008947 OMIM:616413 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0014630 familial adenomatous polyposis 3 MONDO:0021055 OMIM:616415 OMIMPS:175100 classic familial adenomatous polyposis MONDO:0014632 hypomyelinating leukodystrophy 10 MONDO:0019046 OMIM:616420 OMIMPS:312080 leukodystrophy MONDO:0014634 46,XY sex reversal 10 MONDO:0010765 OMIM:616425 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0014635 microphthalmia, isolated, with coloboma 10 MONDO:0000170 OMIM:616428 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0000732 OMIM:616430 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014637 DOCK2 deficiency MONDO:0021094 OMIM:616433 OMIMPS:300755 immunodeficiency disease MONDO:0014638 Fanconi anemia complementation group T MONDO:0019391 OMIM:616435 OMIMPS:227650 Fanconi anemia MONDO:0014639 familial temporal lobe epilepsy 7 MONDO:0005115 OMIM:616436 OMIMPS:600512 temporal lobe epilepsy MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0005144 OMIM:616437 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0014640 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 MONDO:0017161 OMIM:616437 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 MONDO:0005144 OMIM:616439 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 MONDO:0017161 OMIM:616439 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0014642 candidiasis, familial, 9 MONDO:0015279 OMIM:616445 OMIMPS:114580 chronic mucocutaneous candidiasis MONDO:0014646 Zimmermann-Laband syndrome 2 MONDO:0000200 OMIM:616455 OMIMPS:135500 Zimmermann-Laband syndrome MONDO:0014647 developmental and epileptic encephalopathy, 50 MONDO:0100062 OMIM:616457 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014649 intellectual disability, autosomal recessive 50 MONDO:0019502 OMIM:616460 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014650 familial temporal lobe epilepsy 8 MONDO:0005115 OMIM:616461 OMIMPS:600512 temporal lobe epilepsy MONDO:0014652 exudative vitreoretinopathy 6 MONDO:0019516 OMIM:616468 OMIMPS:133780 exudative vitreoretinopathy MONDO:0014653 retinitis pigmentosa 72 MONDO:0019200 OMIM:616469 OMIMPS:268000 retinitis pigmentosa MONDO:0014654 Ullrich congenital muscular dystrophy 2 MONDO:0000355 OMIM:616470 OMIMPS:254090 Ullrich congenital muscular dystrophy MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MONDO:0000090 OMIM:616479 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO:0014657 primary ciliary dyskinesia 32 MONDO:0016575 OMIM:616481 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014659 infantile liver failure syndrome 2 MONDO:0000023 OMIM:616483 OMIMPS:615438 infantile liver failure MONDO:0014660 microcephaly 15, primary, autosomal recessive MONDO:0016660 OMIM:616486 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014661 epidermolysis bullosa simplex with nail dystrophy MONDO:0017610 OMIM:616487 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0015364 OMIM:616488 OMIMPS:162400 hereditary sensory and autonomic neuropathy MONDO:0014663 Silver-Russell syndrome 3 MONDO:0008394 OMIM:616489 OMIMPS:180860 Silver-Russell syndrome MONDO:0014664 Joubert syndrome 23 MONDO:0018772 OMIM:616490 OMIMPS:213300 Joubert syndrome MONDO:0014669 cone-rod dystrophy 21 MONDO:0015993 OMIM:616502 OMIMPS:120970 cone-rod dystrophy MONDO:0014670 lethal congenital contracture syndrome 9 MONDO:0017436 OMIM:616503 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0014675 autosomal recessive nonsyndromic hearing loss 104 MONDO:0019588 OMIM:616515 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0014676 Emery-Dreifuss muscular dystrophy 3, autosomal recessive MONDO:0016830 OMIM:616516 OMIMPS:310300 Emery-Dreifuss muscular dystrophy MONDO:0014678 intellectual disability, autosomal dominant 39 MONDO:0100172 OMIM:616521 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 MONDO:0000171 OMIM:616538 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0014684 combined oxidative phosphorylation defect type 26 MONDO:0000732 OMIM:616539 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014685 progressive myoclonic epilepsy type 9 MONDO:0020074 OMIM:616540 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0014687 retinitis pigmentosa 73 MONDO:0019200 OMIM:616544 OMIMPS:268000 retinitis pigmentosa MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly MONDO:0018770 OMIM:616546 OMIMPS:208500 Jeune syndrome MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0001029 OMIM:616549 OMIMPS:118100 Klippel-Feil syndrome MONDO:0014690 dyskeratosis congenita, autosomal dominant 6 MONDO:0015780 OMIM:616553 OMIMPS:127550 dyskeratosis congenita MONDO:0014691 Noonan syndrome 9 MONDO:0018997 OMIM:616559 OMIMPS:163950 Noonan syndrome MONDO:0014692 retinitis pigmentosa 74 MONDO:0019200 OMIM:616562 OMIMPS:268000 retinitis pigmentosa MONDO:0014693 Noonan syndrome 10 MONDO:0018997 OMIM:616564 OMIMPS:163950 Noonan syndrome MONDO:0014696 cerebrooculofacioskeletal syndrome 3 MONDO:0008926 OMIM:616570 OMIMPS:214150 COFS syndrome MONDO:0014697 immunodeficiency, common variable, 12 MONDO:0015517 OMIM:616576 OMIMPS:607594 common variable immunodeficiency MONDO:0014703 Adams-Oliver syndrome 6 MONDO:0007034 OMIM:616589 OMIMPS:100300 Adams-Oliver syndrome MONDO:0014712 Senior-Loken syndrome 9 MONDO:0017842 OMIM:616629 OMIMPS:266900 Senior-Loken syndrome MONDO:0014717 early-onset Lafora body disease MONDO:0020074 OMIM:616640 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0100062 OMIM:616647 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014724 Joubert syndrome 24 MONDO:0018772 OMIM:616654 OMIMPS:213300 Joubert syndrome MONDO:0014727 immunodeficiency 45 MONDO:0021094 OMIM:616669 OMIMPS:300755 immunodeficiency disease MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0000732 OMIM:616672 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014730 microcephaly 16, primary, autosomal recessive MONDO:0016660 OMIM:616681 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014732 hypomyelinating leukodystrophy 12 MONDO:0019046 OMIM:616683 OMIMPS:312080 leukodystrophy MONDO:0014738 autosomal dominant nonsyndromic hearing loss 69 MONDO:0019587 OMIM:616697 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014739 autosomal recessive nonsyndromic hearing loss 97 MONDO:0019588 OMIM:616705 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0014740 autosomal dominant nonsyndromic hearing loss 68 MONDO:0019587 OMIM:616707 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014746 SLC39A8-CDG MONDO:0005501 OMIM:616721 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0014749 tooth agenesis, selective, 7 MONDO:0005486 OMIM:616724 OMIMPS:106600 tooth agenesis MONDO:0014750 primary ciliary dyskinesia 33 MONDO:0016575 OMIM:616726 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014754 primary coenzyme Q10 deficiency 8 MONDO:0018151 OMIM:616733 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0014756 tremor, hereditary essential, 5 MONDO:0003233 OMIM:616736 OMIMPS:190300 essential tremor MONDO:0014758 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MONDO:0011555 OMIM:616738 OMIMPS:605432 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:0014759 intellectual disability, autosomal recessive 51 MONDO:0019502 OMIM:616739 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014760 TFRC-related combined immunodeficiency MONDO:0021094 OMIM:616740 OMIMPS:300755 immunodeficiency disease MONDO:0014762 heterotaxy, visceral, 7, autosomal MONDO:0018677 OMIM:616749 OMIMPS:306955 visceral heterotaxy MONDO:0014767 Seckel syndrome 9 MONDO:0019342 OMIM:616777 OMIMPS:210600 Seckel syndrome MONDO:0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MONDO:0007432 OMIM:616779 OMIMPS:125310 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy MONDO:0014770 Joubert syndrome 25 MONDO:0018772 OMIM:616781 OMIMPS:213300 Joubert syndrome MONDO:0014771 Joubert syndrome 26 MONDO:0018772 OMIM:616784 OMIMPS:213300 Joubert syndrome MONDO:0014775 combined oxidative phosphorylation deficiency 28 MONDO:0000732 OMIM:616794 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014777 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MONDO:0014176 OMIM:616801 OMIMPS:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0014779 Wilms tumor 6 MONDO:0003321 OMIM:616806 OMIMPS:194070 hereditary Wilms tumor MONDO:0014780 hyperphosphatasia with intellectual disability syndrome 6 MONDO:0016596 OMIM:616809 OMIMPS:239300 hyperphosphatasia-intellectual disability syndrome MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0000732 OMIM:616811 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0015152 OMIM:616812 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0014785 microcephaly, short stature, and impaired glucose metabolism 2 MONDO:0800450 OMIM:616817 OMIMPS:616033 microcephaly, short stature, and impaired glucose metabolism MONDO:0014786 IgA nephropathy, susceptibility to, 3 MONDO:0100555 OMIM:616818 OMIMPS:161950 IgA nephropathy, susceptibility to MONDO:0014788 autosomal recessive limb-girdle muscular dystrophy type 2W MONDO:0015152 OMIM:616827 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0014789 CCDC115-CDG MONDO:0005501 OMIM:616828 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0014790 TMEM199-CDG MONDO:0005501 OMIM:616829 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0014792 Paget disease of bone 6 MONDO:0005382 OMIM:616833 OMIMPS:167250 bone Paget disease MONDO:0014794 Meier-Gorlin syndrome 6 MONDO:0016817 OMIM:616835 OMIMPS:224690 Meier-Gorlin syndrome MONDO:0014797 lymphatic malformation 6 MONDO:0019313 OMIM:616843 OMIMPS:153100 lymphatic malformation MONDO:0014802 Cowden syndrome 7 MONDO:0016063 OMIM:616858 OMIMPS:158350 Cowden disease MONDO:0014806 spinal muscular atrophy with congenital bone fractures 1 MONDO:0000209 OMIM:616866 OMIMPS:616866 prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 MONDO:0000209 OMIM:616867 OMIMPS:616866 prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO:0014810 pancytopenia due to IKZF1 mutations MONDO:0015517 OMIM:616873 OMIMPS:607594 common variable immunodeficiency MONDO:0014813 hypomyelinating leukodystrophy 13 MONDO:0019046 OMIM:616881 OMIMPS:312080 leukodystrophy MONDO:0014814 advanced sleep phase syndrome 3 MONDO:0015609 OMIM:616882 OMIMPS:604348 advanced sleep phase syndrome MONDO:0014815 intellectual disability, autosomal recessive 52 MONDO:0019502 OMIM:616887 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0018158 OMIM:616896 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0014823 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 MONDO:0014176 OMIM:616900 OMIMPS:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0014828 immunodeficiency-centromeric instability-facial anomalies syndrome 3 MONDO:0000133 OMIM:616910 OMIMPS:242860 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0014829 immunodeficiency-centromeric instability-facial anomalies syndrome 4 MONDO:0000133 OMIM:616911 OMIMPS:242860 immunodeficiency-centromeric instability-facial anomalies syndrome MONDO:0014830 platelet-type bleeding disorder 20 MONDO:0000009 OMIM:616913 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0014835 striatal degeneration, autosomal dominant 2 MONDO:0000211 OMIM:616922 OMIMPS:609161 striatal degeneration, autosomal dominant MONDO:0014838 Coffin-Siris syndrome 5 MONDO:0015452 OMIM:616938 OMIMPS:135900 Coffin-Siris syndrome MONDO:0014841 trichothiodystrophy 6, nonphotosensitive MONDO:0018053 OMIM:616943 OMIMPS:601675 trichothiodystrophy MONDO:0014843 premature ovarian failure 11 MONDO:0019852 OMIM:616946 OMIMPS:311360 inherited primary ovarian failure MONDO:0014844 premature ovarian failure 12 MONDO:0019852 OMIM:616947 OMIMPS:311360 inherited primary ovarian failure MONDO:0014845 spinocerebellar ataxia, autosomal recessive 22 MONDO:0015244 OMIM:616948 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0014847 spermatogenic failure 15 MONDO:0004983 OMIM:616950 OMIMPS:258150 spermatogenic failure MONDO:0014851 hypercalcemia, infantile, 2 MONDO:0000212 OMIM:616963 OMIMPS:143880 hypercalcemia, infantile MONDO:0014853 autosomal dominant nonsyndromic hearing loss 70 MONDO:0019587 OMIM:616968 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014854 autosomal dominant nonsyndromic hearing loss 66 MONDO:0019587 OMIM:616969 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO:0000732 OMIM:616974 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014859 developmental and epileptic encephalopathy, 37 MONDO:0100062 OMIM:616981 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014860 polycystic liver disease 2 MONDO:0000447 OMIM:617004 OMIMPS:174050 autosomal dominant polycystic liver disease MONDO:0014861 autoimmune disease, multisystem, infantile-onset, 2 MONDO:0000213 OMIM:617006 OMIMPS:615952 autoimmune disease, multisystem, infantile-onset MONDO:0014862 cerebral palsy, spastic quadriplegic, 3 MONDO:0016215 OMIM:617008 OMIMPS:612900 spastic quadriplegic cerebral palsy MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0000214 OMIM:617013 OMIMPS:613280 hypermanganesemia with dystonia MONDO:0014867 spinocerebellar ataxia 43 MONDO:0020380 OMIM:617018 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0014868 developmental and epileptic encephalopathy, 38 MONDO:0100062 OMIM:617020 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0017436 OMIM:617022 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0014871 retinitis pigmentosa 75 MONDO:0019200 OMIM:617023 OMIMPS:268000 retinitis pigmentosa MONDO:0014872 congenital stationary night blindness 1H MONDO:0016293 OMIM:617024 OMIMPS:310500 congenital stationary night blindness MONDO:0014875 hyperaldosteronism, familial, type IV MONDO:0016525 OMIM:617027 OMIMPS:103900 familial hyperaldosteronism MONDO:0014876 intellectual disability, autosomal recessive 54 MONDO:0019502 OMIM:617028 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014877 myopathy, distal, 5 MONDO:0018949 OMIM:617030 OMIMPS:160500 distal myopathy MONDO:0014878 patent ductus arteriosus 2 MONDO:0011827 OMIM:617035 OMIMPS:607411 patent ductus arteriosus MONDO:0014880 Duane retraction syndrome 3 with or without deafness MONDO:0007473 OMIM:617041 OMIMPS:126800 Duane retraction syndrome MONDO:0014882 hereditary spastic paraplegia 77 MONDO:0019064 OMIM:617046 OMIMPS:303350 hereditary spastic paraplegia MONDO:0014883 hypertrophic cardiomyopathy 26 MONDO:0024573 OMIM:617047 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 MONDO:0015762 OMIM:617049 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0014885 Hermansky-Pudlak syndrome 10 MONDO:0019312 OMIM:617050 OMIMPS:203300 Hermansky-Pudlak syndrome MONDO:0014887 bone marrow failure syndrome 3 MONDO:0000159 OMIM:617052 OMIMPS:614675 bone marrow failure syndrome MONDO:0014889 striatonigral degeneration, childhood-onset MONDO:0003122 OMIM:617054 OMIMPS:271930 striatonigral degeneration MONDO:0014890 PERCHING syndrome MONDO:0015526 OMIM:617055 OMIMPS:272430 cold-induced sweating syndrome MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 MONDO:0000608 OMIM:617056 OMIMPS:162000 familial juvenile hyperuricemic nephropathy MONDO:0014894 Meier-Gorlin syndrome 7 MONDO:0016817 OMIM:617063 OMIMPS:224690 Meier-Gorlin syndrome MONDO:0014895 developmental and epileptic encephalopathy, 40 MONDO:0100062 OMIM:617065 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 MONDO:0000090 OMIM:617069 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO:0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 MONDO:0000090 OMIM:617070 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:0015152 OMIM:617072 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0014901 tooth agenesis, selective, 8 MONDO:0005486 OMIM:617073 OMIMPS:106600 tooth agenesis MONDO:0014903 seizures, benign familial infantile, 5 MONDO:0017615 OMIM:617080 OMIMPS:601764 benign familial infantile epilepsy MONDO:0014904 congenital disorder of glycosylation, type IAA MONDO:0005500 OMIM:617082 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 MONDO:0054865 OMIM:617086 OMIMPS:614388 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; MONDO:0015626 OMIM:617087 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0014907 short-rib thoracic dysplasia 15 with polydactyly MONDO:0018770 OMIM:617088 OMIMPS:208500 Jeune syndrome MONDO:0014908 microcephaly 17, primary, autosomal recessive MONDO:0016660 OMIM:617090 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014909 primary ciliary dyskinesia 34 MONDO:0016575 OMIM:617091 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014910 primary ciliary dyskinesia 35 MONDO:0016575 OMIM:617092 OMIMPS:244400 primary ciliary dyskinesia MONDO:0014912 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MONDO:0975955 OMIM:617099 OMIMPS:617099 autoinflammation, panniculitis, and dermatosis syndrome MONDO:0014915 short-rib thoracic dysplasia 16 with or without polydactyly MONDO:0018770 OMIM:617102 OMIMPS:208500 Jeune syndrome MONDO:0014920 patterned macular dystrophy 3 MONDO:0020381 OMIM:617111 OMIMPS:169150 patterned macular dystrophy MONDO:0014922 myofibrillar myopathy 7 MONDO:0018943 OMIM:617114 OMIMPS:601419 myofibrillar myopathy MONDO:0014923 peeling skin syndrome 5 MONDO:0019347 OMIM:617115 OMIMPS:270300 peeling skin syndrome MONDO:0014924 epilepsy, familial focal, with variable foci 2 MONDO:0020310 OMIM:617116 OMIMPS:604364 familial focal epilepsy with variable foci MONDO:0014925 epilepsy, familial focal, with variable foci 3 MONDO:0020310 OMIM:617118 OMIMPS:604364 familial focal epilepsy with variable foci MONDO:0014926 Bardet-Biedl syndrome 22 MONDO:0015229 OMIM:617119 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0014927 Joubert syndrome 27 MONDO:0018772 OMIM:617120 OMIMPS:213300 Joubert syndrome MONDO:0014928 Joubert syndrome 28 MONDO:0018772 OMIM:617121 OMIMPS:213300 Joubert syndrome MONDO:0014929 retinitis pigmentosa 76 MONDO:0019200 OMIM:617123 OMIMPS:268000 retinitis pigmentosa MONDO:0014930 intellectual disability, autosomal recessive 56 MONDO:0019502 OMIM:617125 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014932 orofaciodigital syndrome XV MONDO:0015375 OMIM:617127 OMIMPS:311200 orofaciodigital syndrome MONDO:0014935 frontometaphyseal dysplasia 2 MONDO:0015942 OMIM:617137 OMIMPS:305620 frontometaphyseal dysplasia MONDO:0014937 aniridia 2 MONDO:0007119 OMIM:617141 OMIMPS:106210 isolated aniridia MONDO:0014938 aniridia 3 MONDO:0007119 OMIM:617142 OMIMPS:106210 isolated aniridia MONDO:0014939 congenital myasthenic syndrome 20 MONDO:0018940 OMIM:617143 OMIMPS:601462 congenital myasthenic syndrome MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MONDO:0018158 OMIM:617156 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0014950 aortic aneurysm, familial thoracic 10 MONDO:0019625 OMIM:617168 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0014951 intellectual developmental disorder, autosomal recessive 74 MONDO:0019502 OMIM:617169 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant MONDO:0018158 OMIM:617184 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0014961 spermatogenic failure 16 MONDO:0004983 OMIM:617187 OMIMPS:258150 spermatogenic failure MONDO:0014962 intellectual disability, autosomal recessive 57 MONDO:0019502 OMIM:617188 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014965 lethal congenital contracture syndrome 11 MONDO:0017436 OMIM:617194 OMIMPS:253310 lethal congenital contracture syndrome MONDO:0014966 periventricular nodular heterotopia 7 MONDO:0020341 OMIM:617201 OMIMPS:300049 periventricular nodular heterotopia MONDO:0014967 heterotaxy, visceral, 8, autosomal MONDO:0018677 OMIM:617205 OMIMPS:306955 visceral heterotaxy MONDO:0014970 spermatogenic failure 17 MONDO:0004983 OMIM:617214 OMIMPS:258150 spermatogenic failure MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO:0000732 OMIM:617228 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0015152 OMIM:617232 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0014981 immunodeficiency 49 MONDO:0031520 OMIM:617237 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0014982 myopia 25, autosomal dominant MONDO:0001384 OMIM:617238 OMIMPS:160700 myopia MONDO:0014983 congenital myasthenic syndrome 21 MONDO:0018940 OMIM:617239 OMIMPS:601462 congenital myasthenic syndrome MONDO:0014985 Fanconi anemia complementation group V MONDO:0019391 OMIM:617243 OMIMPS:227650 Fanconi anemia MONDO:0014986 Fanconi anemia complementation group R MONDO:0019391 OMIM:617244 OMIMPS:227650 Fanconi anemia MONDO:0014987 Fanconi anemia complementation group U MONDO:0019391 OMIM:617247 OMIMPS:227650 Fanconi anemia MONDO:0014991 Seckel syndrome 10 MONDO:0019342 OMIM:617253 OMIMPS:210600 Seckel syndrome MONDO:0014992 lissencephaly 8 MONDO:0018838 OMIM:617255 OMIMPS:607432 lissencephaly spectrum disorders MONDO:0014993 myofibrillar myopathy 8 MONDO:0018943 OMIM:617258 OMIMPS:601419 myofibrillar myopathy MONDO:0014996 intellectual disability, autosomal recessive 58 MONDO:0019502 OMIM:617270 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0014997 nephronophthisis 20 MONDO:0019005 OMIM:617271 OMIMPS:256100 nephronophthisis MONDO:0014999 tooth agenesis, selective, 9 MONDO:0005486 OMIM:617275 OMIMPS:106600 tooth agenesis MONDO:0015000 developmental and epileptic encephalopathy, 48 MONDO:0100062 OMIM:617276 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0015001 atrial fibrillation, familial, 18 MONDO:0018054 OMIM:617280 OMIMPS:608583 familial atrial fibrillation MONDO:0015002 developmental and epileptic encephalopathy, 49 MONDO:0100062 OMIM:617281 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0044807 OMIM:617282 OMIMPS:128100 inherited dystonia MONDO:0015004 dystonia 28, childhood-onset MONDO:0044807 OMIM:617284 OMIMPS:128100 inherited dystonia MONDO:0015005 epilepsy, early-onset, vitamin B6-dependent MONDO:0957599 OMIM:617290 OMIMPS:617290 epilepsy, early-onset MONDO:0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss MONDO:0017610 OMIM:617294 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0015009 lymphatic malformation 7 MONDO:0019313 OMIM:617300 OMIMPS:153100 lymphatic malformation MONDO:0015011 optic atrophy 11 MONDO:0043878 OMIM:617302 OMIMPS:165500 hereditary optic atrophy MONDO:0015013 retinitis pigmentosa 77 MONDO:0019200 OMIM:617304 OMIMPS:268000 retinitis pigmentosa MONDO:0015015 congenital bile acid synthesis defect 6 MONDO:0018841 OMIM:617308 OMIMPS:607765 congenital bile acid synthesis defect MONDO:0015016 anterior segment dysgenesis 6 MONDO:0019503 OMIM:617315 OMIMPS:107250 anterior segment dysgenesis MONDO:0015017 anterior segment dysgenesis 8 MONDO:0019503 OMIM:617319 OMIMPS:107250 anterior segment dysgenesis MONDO:0015018 ichthyosis, congenital, autosomal recessive 12 MONDO:0017265 OMIM:617320 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0015020 intellectual disability, autosomal recessive 59 MONDO:0019502 OMIM:617323 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0015023 MYPN-related myopathy MONDO:0018958 OMIM:617336 OMIMPS:161800 nemaline myopathy MONDO:0015024 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type MONDO:0019287 OMIM:617337 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0015025 developmental and epileptic encephalopathy, 51 MONDO:0100062 OMIM:617339 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0015026 cerebroretinal microangiopathy with calcifications and cysts 2 MONDO:0012815 OMIM:617341 OMIMPS:612199 Coats plus syndrome MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0020119 OMIM:301030 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0000009 OMIM:155100 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 MONDO:0020066 OMIM:225400 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0020380 OMIM:164500 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0016368 Rothmund-Thomson syndrome type 1 MONDO:0010002 OMIM:618625 OMIMPS:268400 Rothmund-Thomson syndrome MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:0010002 OMIM:268400 OMIMPS:268400 Rothmund-Thomson syndrome MONDO:0016675 distal arthrogryposis type 10 MONDO:0019942 OMIM:187370 OMIMPS:108120 distal arthrogryposis MONDO:0016862 Alagille syndrome due to a JAG1 point mutation MONDO:0007318 OMIM:118450 OMIMPS:118450 Alagille syndrome MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0013150 OMIM:618049 OMIMPS:613135 parkinsonism-dystonia, infantile MONDO:0018264 oculocutaneous albinism type 6 MONDO:0018910 OMIM:113750 OMIMPS:203100 oculocutaneous albinism MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0009626 OMIM:617397 OMIMPS:251290 pseudo-TORCH syndrome MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0031422 OMIM:252600 OMIMPS:256550 familial mucolipidosis MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0020771 OMIM:606002 OMIMPS:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy MONDO:0019148 Wolman disease MONDO:0800449 OMIM:620151 OMIMPS:278000 lysosomal acid lipase deficiency MONDO:0019149 cholesteryl ester storage disease MONDO:0800449 OMIM:278000 OMIMPS:278000 lysosomal acid lipase deficiency MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:0800448 OMIM:603896 OMIMPS:603896 leukoencephalopathy with vanishing white matter MONDO:0020607 Liddle syndrome 1 MONDO:0008323 OMIM:177200 OMIMPS:177200 Liddle syndrome MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 MONDO:0020629 OMIM:618097 OMIMPS:210900 microcephaly, growth restriction and increased sister chromatid exchange MONDO:0020630 developmental and epileptic encephalopathy 91 MONDO:0100062 OMIM:617711 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0020631 developmental and epileptic encephalopathy 92 MONDO:0100062 OMIM:617829 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0020632 developmental and epileptic encephalopathy 93 MONDO:0100062 OMIM:618012 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 OMIM:400044 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0020713 pulmonary venoocclusive disease 1 MONDO:0009937 OMIM:265450 OMIMPS:265450 pulmonary venoocclusive disease MONDO:0020716 thyroid dyshormonogenesis 1 MONDO:0010132 OMIM:274400 OMIMPS:274400 familial thyroid dyshormonogenesis MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0020099 OMIM:300751 OMIMPS:300751 inherited sideroblastic anemia MONDO:0020722 nephrolithiasis susceptibility caused by SLC26A1 MONDO:0957318 OMIM:167030 OMIMPS:167030 nephrolithiasis, calcium oxalate MONDO:0020724 cerebral cavernous malformation 1 MONDO:0031037 OMIM:116860 OMIMPS:116860 famililal cerebral cavernous malformations MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 MONDO:0000608 OMIM:174000 OMIMPS:162000 familial juvenile hyperuricemic nephropathy MONDO:0020728 hypouricemia, renal 1 MONDO:0968951 OMIM:220150 OMIMPS:220150 hypouricemia, renal MONDO:0020730 carpal tunnel syndrome 1 MONDO:0007275 OMIM:115430 OMIMPS:115430 carpal tunnel syndrome MONDO:0020733 proximal symphalangism 1A MONDO:0008511 OMIM:185800 OMIMPS:185800 proximal symphalangism MONDO:0020737 optic atrophy 10 with or without ataxia, intellectual disability, and seizures MONDO:0043878 OMIM:616732 OMIMPS:165500 hereditary optic atrophy MONDO:0020739 hypercalcemia, infantile, 1 MONDO:0000212 OMIM:143880 OMIMPS:143880 hypercalcemia, infantile MONDO:0020740 ectodermal dysplasia and immunodeficiency 1 MONDO:0010293 OMIM:300291 OMIMPS:300291 ectodermal dysplasia and immune deficiency MONDO:0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B MONDO:0020937 OMIM:618469 OMIMPS:178110 contractures, pterygia, and variable skeletal fusions syndrome MONDO:0020747 sitosterolemia 1 MONDO:0008863 OMIM:210250 OMIMPS:210250 sitosterolemia MONDO:0020748 sitosterolemia 2 MONDO:0008863 OMIM:618666 OMIMPS:210250 sitosterolemia MONDO:0020749 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 MONDO:0009092 OMIM:221770 OMIMPS:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0020750 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 MONDO:0009092 OMIM:618193 OMIMPS:221770 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0020751 orthostatic hypotension 2 MONDO:0021272 OMIM:618182 OMIMPS:223360 inherited orthostatic hypotension MONDO:0020756 migraine, familial hemiplegic, 1 MONDO:0000700 OMIM:141500 OMIMPS:141500 familial hemiplegic migraine MONDO:0020762 diencephalic-mesencephalic junction dysplasia syndrome 2 MONDO:0017868 OMIM:618646 OMIMPS:251280 diencephalic-mesencephalic junction dysplasia MONDO:0020763 Menke-Hennekam syndrome 1 MONDO:0020774 OMIM:618332 OMIMPS:618332 Menke-Hennekam syndrome MONDO:0020765 neuropathy, congenital hypomyelinating, 2 MONDO:0033352 OMIM:618184 OMIMPS:605253 neuropathy, congenital hypomelinating MONDO:0020766 neuropathy, congenital hypomyelinating, 3 MONDO:0033352 OMIM:618186 OMIMPS:605253 neuropathy, congenital hypomelinating MONDO:0020769 Menke-Hennekam syndrome 2 MONDO:0020774 OMIM:618333 OMIMPS:618332 Menke-Hennekam syndrome MONDO:0020770 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020771 OMIM:618387 OMIMPS:607250 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy MONDO:0020772 epilepsy, juvenile absence, susceptibility to, 1 MONDO:1030001 OMIM:607631 OMIMPS:607631 epilepsy, juvenile absence, susceptibility to MONDO:0020775 congenital disorder of glycosylation with defective fucosylation 1 MONDO:0060720 OMIM:618005 OMIMPS:618005 congenital disorder of glycosylation with defective fucosylation MONDO:0020777 congenital disorder of glycosylation with defective fucosylation 2 MONDO:0060720 OMIM:618324 OMIMPS:618005 congenital disorder of glycosylation with defective fucosylation MONDO:0020778 cone-rod dystrophy and hearing loss 1 MONDO:0014980 OMIM:617236 OMIMPS:617236 cone-rod dystrophy and hearing loss MONDO:0020780 cone-rod dystrophy and hearing loss 2 MONDO:0014980 OMIM:618358 OMIMPS:617236 cone-rod dystrophy and hearing loss MONDO:0020781 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0014960 OMIM:617186 OMIMPS:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy MONDO:0020783 capillary malformation-arteriovenous malformation 1 MONDO:0012016 OMIM:608354 OMIMPS:608354 capillary malformation-arteriovenous malformation syndrome MONDO:0020785 capillary malformation-arteriovenous malformation 2 MONDO:0012016 OMIM:618196 OMIMPS:608354 capillary malformation-arteriovenous malformation syndrome MONDO:0020787 hypomagnesemia, seizures, and intellectual disability 1 MONDO:0014631 OMIM:616418 OMIMPS:616418 hypomagnesemia, seizures, and intellectual disability MONDO:0020788 hypomagnesemia, seizures, and intellectual disability 2 MONDO:0014631 OMIM:618314 OMIMPS:616418 hypomagnesemia, seizures, and intellectual disability MONDO:0020789 pseudo-TORCH syndrome 1 MONDO:0009626 OMIM:251290 OMIMPS:251290 pseudo-TORCH syndrome MONDO:0020790 gaze palsy, familial horizontal, with progressive scoliosis 1 MONDO:0011810 OMIM:607313 OMIMPS:607313 horizontal gaze palsy with progressive scoliosis MONDO:0020791 corneal dystrophy, Meesmann, 1 MONDO:0007379 OMIM:122100 OMIMPS:122100 Meesmann corneal dystrophy MONDO:0020793 oculopharyngodistal myopathy 1 MONDO:0025193 OMIM:164310 OMIMPS:164310 oculopharyngodistal myopathy MONDO:0020795 Silver-Russell syndrome 5 MONDO:0008394 OMIM:618908 OMIMPS:180860 Silver-Russell syndrome MONDO:0020796 Silver-Russell syndrome 1 MONDO:0008394 OMIM:180860 OMIMPS:180860 Silver-Russell syndrome MONDO:0020798 hypoparathyroidism, familial isolated, 2 MONDO:0016390 OMIM:618883 OMIMPS:146200 familial hypoparathyroidism MONDO:0020837 oocyte maturation defect 5 MONDO:0014769 OMIM:617996 OMIMPS:615774 inherited oocyte maturation defect MONDO:0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 MONDO:0000090 OMIM:618098 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO:0020846 intellectual disability, autosomal recessive 64 MONDO:0019502 OMIM:618103 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0020848 osteopetrosis, autosomal dominant 3 MONDO:0020645 OMIM:618107 OMIMPS:607634 autosomal dominant osteopetrosis MONDO:0020849 immunodeficiency 57 MONDO:0021094 OMIM:618108 OMIMPS:300755 immunodeficiency disease MONDO:0020850 intellectual disability, autosomal recessive 65 MONDO:0019502 OMIM:618109 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0020851 spermatogenic failure 30 MONDO:0004983 OMIM:618110 OMIMPS:258150 spermatogenic failure MONDO:0020852 spermatogenic failure 31 MONDO:0004983 OMIM:618112 OMIMPS:258150 spermatogenic failure MONDO:0020854 Liddle syndrome 2 MONDO:0008323 OMIM:618114 OMIMPS:177200 Liddle syndrome MONDO:0020855 spermatogenic failure 32 MONDO:0004983 OMIM:618115 OMIMPS:258150 spermatogenic failure MONDO:0020856 bone marrow failure syndrome 4 MONDO:0000159 OMIM:618116 OMIMPS:614675 bone marrow failure syndrome MONDO:0020857 ovarian dysgenesis 7 MONDO:0009299 OMIM:618117 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0021001 hemochromatosis type 1 MONDO:0006507 OMIM:235200 OMIMPS:235200 hereditary hemochromatosis MONDO:0021013 trichothiodystrophy 4, nonphotosensitive MONDO:0018053 OMIM:234050 OMIMPS:601675 trichothiodystrophy MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:0015151 OMIM:603511 OMIMPS:603511 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0021035 alopecia-intellectual disability syndrome 1 MONDO:0008756 OMIM:203650 OMIMPS:203650 alopecia - intellectual disability syndrome MONDO:0021056 familial adenomatous polyposis 1 MONDO:0021055 OMIM:175100 OMIMPS:175100 classic familial adenomatous polyposis MONDO:0021083 congenital fibrosis of extraocular muscles type 1 MONDO:0007614 OMIM:135700 OMIMPS:135700 congenital fibrosis of extraocular muscles MONDO:0021093 cranioectodermal dysplasia 1 MONDO:0009032 OMIM:218330 OMIMPS:218330 cranioectodermal dysplasia MONDO:0021571 multiple sclerosis, susceptibility to 1 MONDO:0007462 OMIM:126200 OMIMPS:126200 multiple sclerosis, susceptibility to MONDO:0021573 oocyte maturation defect 2 MONDO:0014769 OMIM:616780 OMIMPS:615774 inherited oocyte maturation defect MONDO:0021574 oocyte maturation defect 3 MONDO:0014769 OMIM:617712 OMIMPS:615774 inherited oocyte maturation defect MONDO:0021575 oocyte maturation defect 4 MONDO:0014769 OMIM:617743 OMIMPS:615774 inherited oocyte maturation defect MONDO:0023655 immunodeficiency 14b, autosomal recessive MONDO:0021094 OMIM:619281 OMIMPS:300755 immunodeficiency disease MONDO:0023657 intellectual developmental disorder, autosomal dominant 65 MONDO:0100172 OMIM:619320 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0023659 developmental and epileptic encephalopathy 96 MONDO:0100062 OMIM:619340 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0023660 angioedema, hereditary, 6 MONDO:0019623 OMIM:619363 OMIMPS:106100 hereditary angioedema MONDO:0023662 lymphatic malformation 10 MONDO:0019313 OMIM:619369 OMIMPS:153100 lymphatic malformation MONDO:0023664 spermatogenic failure 54 MONDO:0004983 OMIM:619379 OMIMPS:258150 spermatogenic failure MONDO:0023670 Bardet-Biedl syndrome 20 MONDO:0015229 OMIM:619471 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0023671 oculopharyngodistal myopathy 3 MONDO:0025193 OMIM:619473 OMIMPS:164310 oculopharyngodistal myopathy MONDO:0023691 maple syrup urine disease type 1A MONDO:0009563 OMIM:248600 OMIMPS:248600 maple syrup urine disease MONDO:0023692 maple syrup urine disease type 1B MONDO:0009563 OMIM:620698 OMIMPS:248600 maple syrup urine disease MONDO:0023693 maple syrup urine disease type 2 MONDO:0009563 OMIM:620699 OMIMPS:248600 maple syrup urine disease MONDO:0024264 hypothyroidism, congenital, nongoitrous, 2 MONDO:0000045 OMIM:218700 OMIMPS:275200 hypothyroidism, congenital, nongoitrous MONDO:0024265 Duane syndrome type 1 MONDO:0007473 OMIM:126800 OMIMPS:126800 Duane retraction syndrome MONDO:0024266 patent ductus arteriosus 3 MONDO:0011827 OMIM:617039 OMIMPS:607411 patent ductus arteriosus MONDO:0024463 ovarian dysgenesis 1 MONDO:0009299 OMIM:233300 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0024464 pituitary hormone deficiency, combined, 1 MONDO:0013099 OMIM:613038 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0024465 surfactant metabolism dysfunction, pulmonary, 2 MONDO:0012580 OMIM:610913 OMIMPS:265120 hereditary pulmonary alveolar proteinosis MONDO:0024466 facial paresis, hereditary congenital, 1 MONDO:0011090 OMIM:601471 OMIMPS:601471 isolated hereditary congenital facial paralysis MONDO:0024498 glioma susceptibility 1 MONDO:0100242 OMIM:137800 OMIMPS:137800 glioma susceptibility MONDO:0024506 Adams-Oliver syndrome 1 MONDO:0007034 OMIM:100300 OMIMPS:100300 Adams-Oliver syndrome MONDO:0024507 aniridia 1 MONDO:0007119 OMIM:106210 OMIMPS:106210 isolated aniridia MONDO:0024508 epilepsy, hot water, 1 MONDO:0013229 OMIM:613339 OMIMPS:613339 hot water reflex epilepsy MONDO:0024517 SMARCB1-related schwannomatosis MONDO:0008075 OMIM:162091 OMIMPS:162091 schwannomatosis MONDO:0024519 renal hypodysplasia/aplasia 1 MONDO:0018470 OMIM:191830 OMIMPS:191830 renal agenesis MONDO:0024520 renal hypodysplasia/aplasia 3 MONDO:0018470 OMIM:617805 OMIMPS:191830 renal agenesis MONDO:0024521 aortic aneurysm, familial abdominal, 1 MONDO:0007031 OMIM:100070 OMIMPS:100070 familial abdominal aortic aneurysm MONDO:0024522 amyloidosis, primary localized cutaneous, 1 MONDO:0007101 OMIM:105250 OMIMPS:105250 familial primary localized cutaneous amyloidosis MONDO:0024523 aortic valve disease 1 MONDO:0007194 OMIM:109730 OMIMPS:109730 familial bicuspid aortic valve MONDO:0024524 dyschromatosis universalis hereditaria 1 MONDO:0000736 OMIM:127500 OMIMPS:127500 dyschromatosis universalis hereditaria MONDO:0024526 Zimmermann-Laband syndrome 1 MONDO:0000200 OMIM:135500 OMIMPS:135500 Zimmermann-Laband syndrome MONDO:0024527 glomerulopathy with fibronectin deposits 1 MONDO:0007671 OMIM:137950 OMIMPS:137950 fibronectin glomerulopathy MONDO:0024529 MVP1 MONDO:0008004 OMIM:157700 OMIMPS:157700 familial mitral valve prolapse MONDO:0024530 Bethlem myopathy 1A MONDO:0008029 OMIM:158810 OMIMPS:158810 Bethlem myopathy MONDO:0024531 myopathy, tubular aggregate, 1 MONDO:0008051 OMIM:160565 OMIMPS:160565 tubular aggregate myopathy MONDO:0024532 otofaciocervical syndrome 1 MONDO:0008163 OMIM:166780 OMIMPS:166780 otofaciocervical syndrome MONDO:0024533 pulmonary hypertension, primary, 1 MONDO:0017148 OMIM:178600 OMIMPS:178600 heritable pulmonary arterial hypertension MONDO:0024535 Singleton-Merten syndrome 1 MONDO:0008429 OMIM:182250 OMIMPS:182250 Singleton-Merten dysplasia MONDO:0024536 glucocorticoid deficiency 1 MONDO:0008733 OMIM:202200 OMIMPS:202200 familial glucocorticoid deficiency MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008891 OMIM:211530 OMIMPS:211530 riboflavin transporter deficiency MONDO:0024538 basal ganglia calcification, idiopathic, 1 MONDO:0008947 OMIM:213600 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0024539 choroidal dystrophy, central areolar, 1 MONDO:0008982 OMIM:215500 OMIMPS:215500 central areolar choroidal dystrophy MONDO:0024540 Jervell and Lange-Nielsen syndrome 1 MONDO:0002441 OMIM:220400 OMIMPS:220400 Jervell and Lange-Nielsen syndrome MONDO:0024541 trichohepatoenteric syndrome 1 MONDO:0009105 OMIM:222470 OMIMPS:222470 trichohepatoenteric syndrome MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 MONDO:0009133 OMIM:224050 OMIMPS:224050 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0024543 brittle cornea syndrome 1 MONDO:0009242 OMIM:229200 OMIMPS:229200 brittle cornea syndrome MONDO:0024545 Miyoshi muscular dystrophy 1 MONDO:0009685 OMIM:254130 OMIMPS:254130 Miyoshi myopathy MONDO:0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 MONDO:0016620 OMIM:259100 OMIMPS:259100 primary hypertrophic osteoarthropathy MONDO:0024547 pancreatic agenesis 1 MONDO:0009832 OMIM:260370 OMIMPS:260370 pancreatic agenesis MONDO:0024549 microphthalmia with coloboma 1 MONDO:0000170 OMIM:300345 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0024550 frontometaphyseal dysplasia 1 MONDO:0015942 OMIM:305620 OMIMPS:305620 frontometaphyseal dysplasia MONDO:0024552 linear skin defects with multiple congenital anomalies 1 MONDO:0010672 OMIM:309801 OMIMPS:309801 linear skin defects with multiple congenital anomalies MONDO:0024553 myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0000863 OMIM:600462 OMIMPS:600462 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0024554 D-2-hydroxyglutaric aciduria 1 MONDO:0010924 OMIM:600721 OMIMPS:600721 D-2-hydroxyglutaric aciduria MONDO:0024556 epilepsy, familial focal, with variable foci 1 MONDO:0020310 OMIM:604364 OMIMPS:604364 familial focal epilepsy with variable foci MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0011457 OMIM:604391 OMIMPS:604391 ataxia-telangiectasia-like disorder MONDO:0024558 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 MONDO:0011555 OMIM:605432 OMIMPS:605432 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:0024559 aortic aneurysm, familial thoracic 1 MONDO:0019625 OMIM:607086 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0024560 PDA1 MONDO:0011827 OMIM:607411 OMIMPS:607411 patent ductus arteriosus MONDO:0024562 sick sinus syndrome 1 MONDO:0012061 OMIM:608567 OMIMPS:608567 familial sick sinus syndrome MONDO:0024564 cerebroretinal microangiopathy with calcifications and cysts 1 MONDO:0012815 OMIM:612199 OMIMPS:612199 Coats plus syndrome MONDO:0024565 ectodermal dysplasia-syndactyly syndrome 1 MONDO:0013311 OMIM:613573 OMIMPS:613573 ectodermal dysplasia-syndactyly syndrome MONDO:0024566 febrile seizures, familial, 11 MONDO:0000032 OMIM:614418 OMIMPS:121210 febrile seizures, familial MONDO:0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 MONDO:0014176 OMIM:615419 OMIMPS:615419 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0024568 infantile liver failure syndrome 1 MONDO:0000023 OMIM:615438 OMIMPS:615438 infantile liver failure MONDO:0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MONDO:0031384 OMIM:301074 OMIMPS:616744 autoinflammatory syndrome, familial, Behcet-like MONDO:0024771 myopathy, distal, 7, adult-onset, X-linked MONDO:0018949 OMIM:301075 OMIMPS:160500 distal myopathy MONDO:0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type MONDO:0020119 OMIM:301076 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0024773 spermatogenic failure, X-linked, 4 MONDO:0004983 OMIM:301077 OMIMPS:258150 spermatogenic failure MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked MONDO:0021094 OMIM:301078 OMIMPS:300755 immunodeficiency disease MONDO:0024781 immunodeficiency 102 MONDO:0021094 OMIM:301082 OMIMPS:300755 immunodeficiency disease MONDO:0025353 developmental and epileptic encephalopathy, 90 MONDO:0100062 OMIM:301058 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0025354 spermatogenic failure, X-linked, 3 MONDO:0004983 OMIM:301059 OMIMPS:258150 spermatogenic failure MONDO:0025690 microcephaly, epilepsy, and diabetes syndrome 2 MONDO:0100328 OMIM:619278 OMIMPS:614231 microcephaly, epilepsy, and diabetes syndrome MONDO:0025691 dystonia 30 MONDO:0044807 OMIM:619291 OMIMPS:128100 inherited dystonia MONDO:0025699 Coffin-Siris syndrome 12 MONDO:0015452 OMIM:619325 OMIMPS:135900 Coffin-Siris syndrome MONDO:0025701 leukodystrophy, hypomyelinating, 22 MONDO:0019046 OMIM:619328 OMIMPS:312080 leukodystrophy MONDO:0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 MONDO:0025986 OMIM:619351 OMIMPS:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0025712 angioedema, hereditary, 4 MONDO:0019623 OMIM:619360 OMIMPS:106100 hereditary angioedema MONDO:0025713 angioedema, hereditary, 7 MONDO:0019623 OMIM:619366 OMIMPS:106100 hereditary angioedema MONDO:0026720 mitochondrial complex 1 deficiency, nuclear type 12 MONDO:0100223 OMIM:301020 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 MONDO:0100223 OMIM:301021 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0026723 intellectual developmental disorder, X-linked 108 MONDO:0019181 OMIM:301024 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0026724 Paganini-Miozzo syndrome MONDO:0020119 OMIM:301025 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0026726 nephrotic syndrome, type 20 MONDO:0002350 OMIM:301028 OMIMPS:256300 familial nephrotic syndrome MONDO:0026729 congenital disorder of glycosylation, type ICC MONDO:0005500 OMIM:301031 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 MONDO:0000045 OMIM:301033 OMIMPS:275200 hypothyroidism, congenital, nongoitrous MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 MONDO:0000045 OMIM:301035 OMIMPS:275200 hypothyroidism, congenital, nongoitrous MONDO:0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type MONDO:0020119 OMIM:301039 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0026762 Wieacker-Wolff syndrome, female-restricted MONDO:0025445 OMIM:301041 OMIMPS:314580 Wieacker-Wolff syndrome (spectrum) MONDO:0026763 holoprosencephaly 13, X-linked MONDO:0016296 OMIM:301043 OMIMPS:236100 holoprosencephaly MONDO:0026765 congenital disorder of glycosylation, type IIr MONDO:0005501 OMIM:301045 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked MONDO:0021094 OMIM:301051 OMIMPS:300755 immunodeficiency disease MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects MONDO:0100062 OMIM:301044 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0027048 deafness, Y-linked 2 MONDO:0033304 OMIM:400047 OMIMPS:400043 nonsyndromic deafness, Y-linked MONDO:0027407 Kleefstra syndrome 1 MONDO:0012455 OMIM:610253 OMIMPS:610253 Kleefstra syndrome MONDO:0027676 congenital anomalies of kidney and urinary tract 2 MONDO:0019719 OMIM:143400 OMIMPS:610805 congenital anomaly of kidney and urinary tract MONDO:0027694 amyotrophic lateral sclerosis type 23 MONDO:0005144 OMIM:617839 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0029132 Liddle syndrome 3 MONDO:0008323 OMIM:618126 OMIMPS:177200 Liddle syndrome MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 MONDO:0015151 OMIM:618129 OMIMPS:603511 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 MONDO:0000173 OMIM:618135 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 MONDO:0015152 OMIM:618135 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:0015152 OMIM:618138 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0029137 hearing loss, autosomal dominant 74 MONDO:0019587 OMIM:618140 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0029138 developmental and epileptic encephalopathy, 67 MONDO:0100062 OMIM:618141 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0029141 Usher syndrome, type 4 MONDO:0019501 OMIM:618144 OMIMPS:276900 Usher syndrome MONDO:0029142 hearing loss, autosomal recessive 111 MONDO:0019588 OMIM:618145 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0029145 orofacial cleft 8 MONDO:0000358 OMIM:618149 OMIMPS:119530 orofacial cleft MONDO:0029147 spermatogenic failure 33 MONDO:0004983 OMIM:618152 OMIMPS:258150 spermatogenic failure MONDO:0029148 spermatogenic failure 34 MONDO:0004983 OMIM:618153 OMIMPS:258150 spermatogenic failure MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 MONDO:0100172 OMIM:617863 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030005 epilepsy, early-onset, with or without developmental delay MONDO:0957599 OMIM:618832 OMIMPS:617290 epilepsy, early-onset MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0000732 OMIM:618835 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030007 combined oxidative phosphorylation deficiency 41 MONDO:0000732 OMIM:618838 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030008 combined oxidative phosphorylation deficiency 42 MONDO:0000732 OMIM:618839 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030009 alopecia-intellectual disability syndrome 4 MONDO:0008756 OMIM:618840 OMIMPS:203650 alopecia - intellectual disability syndrome MONDO:0030010 hypogonadotropic hypogonadism 25 with anosmia MONDO:0018555 OMIM:618841 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0030013 immunodeficiency 66 MONDO:0021094 OMIM:618847 OMIMPS:300755 immunodeficiency disease MONDO:0030014 muscular dystrophy, limb-girdle, autosomal recessive 26 MONDO:0015152 OMIM:618848 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0030015 bone marrow failure syndrome 6 MONDO:0000159 OMIM:618849 OMIMPS:614675 bone marrow failure syndrome MONDO:0030017 combined oxidative phosphorylation deficiency 43 MONDO:0000732 OMIM:618851 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030019 anauxetic dysplasia 3 MONDO:0011773 OMIM:618853 OMIMPS:607095 anauxetic dysplasia MONDO:0030020 combined oxidative phosphorylation deficiency 44 MONDO:0000732 OMIM:618855 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030027 tremor, hereditary essential, 6 MONDO:0003233 OMIM:618866 OMIMPS:190300 essential tremor MONDO:0030031 lissencephaly 10 MONDO:0018838 OMIM:618873 OMIMPS:607432 lissencephaly spectrum disorders MONDO:0030034 epilepsy, progressive myoclonic, 11 MONDO:0020074 OMIM:618876 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0030043 congenital disorder of glycosylation, type iit MONDO:0005501 OMIM:618885 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0030044 pseudo-TORCH syndrome 3 MONDO:0009626 OMIM:618886 OMIMPS:251290 pseudo-TORCH syndrome MONDO:0030054 developmental and epileptic encephalopathy, 86 MONDO:0100062 OMIM:618910 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 MONDO:0015363 OMIM:618912 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0030056 Fanconi renotubular syndrome 5 MONDO:0100238 OMIM:618913 OMIMPS:134600 inherited Fanconi renotubular syndrome MONDO:0030058 hearing loss, autosomal dominant 77 MONDO:0019587 OMIM:618915 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0030059 developmental and epileptic encephalopathy, 87 MONDO:0100062 OMIM:618916 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030061 periventricular nodular heterotopia 9 MONDO:0020341 OMIM:618918 OMIMPS:300049 periventricular nodular heterotopia MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 MONDO:0016342 OMIM:618920 OMIMPS:107970 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0030064 episodic ataxia, type 9 MONDO:0016227 OMIM:618924 OMIMPS:160120 hereditary episodic ataxia MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 MONDO:0018305 OMIM:618935 OMIMPS:306400 chronic granulomatous disease MONDO:0030067 Treacher Collins syndrome 4 MONDO:0002457 OMIM:618939 OMIMPS:154500 Treacher-Collins syndrome MONDO:0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive MONDO:0018037 OMIM:618944 OMIMPS:147060 hyper-IgE syndrome MONDO:0030070 heterotaxy, visceral, 9, autosomal, with male infertility MONDO:0018677 OMIM:618948 OMIMPS:306955 visceral heterotaxy MONDO:0030072 developmental and epileptic encephalopathy, 88 MONDO:0100062 OMIM:618959 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030077 vertebral, cardiac, renal, and limb defects syndrome 3 MONDO:0020831 OMIM:618845 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0030087 diabetes mellitus, permanent neonatal 2 MONDO:0100164 OMIM:618856 OMIMPS:606176 permanent neonatal diabetes mellitus MONDO:0030088 diabetes mellitus, permanent neonatal 3 MONDO:0100164 OMIM:618857 OMIMPS:606176 permanent neonatal diabetes mellitus MONDO:0030089 diabetes mellitus, permanent neonatal 4 MONDO:0100164 OMIM:618858 OMIMPS:606176 permanent neonatal diabetes mellitus MONDO:0030105 galactosemia 4 MONDO:0018116 OMIM:618881 OMIMPS:230400 galactosemia MONDO:0030116 silver-russell syndrome 2 MONDO:0008394 OMIM:618905 OMIMPS:180860 Silver-Russell syndrome MONDO:0030118 silver-russell syndrome 4 MONDO:0008394 OMIM:618907 OMIMPS:180860 Silver-Russell syndrome MONDO:0030134 oculopharyngodistal myopathy 2 MONDO:0025193 OMIM:618940 OMIMPS:164310 oculopharyngodistal myopathy MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0020135 OMIM:619301 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0030259 pontocerebellar hypoplasia, type 15 MONDO:0020135 OMIM:619302 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0030260 pontocerebellar hypoplasia, type 1E MONDO:0020135 OMIM:619303 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0030261 pontocerebellar hypoplasia, type 1F MONDO:0020135 OMIM:619304 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0030263 leukodystrophy, hypomyelinating, 21 MONDO:0019046 OMIM:619310 OMIMPS:312080 leukodystrophy MONDO:0030266 immunodeficiency 80 with or without congenital cardiomyopathy MONDO:0021094 OMIM:619313 OMIMPS:300755 immunodeficiency disease MONDO:0030268 developmental and epileptic encephalopathy 6B MONDO:0100062 OMIM:619317 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030270 lymphatic malformation 9 MONDO:0019313 OMIM:619319 OMIMPS:153100 lymphatic malformation MONDO:0030281 arthrogryposis multiplex congenita 6 MONDO:0015168 OMIM:619334 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0030293 angioedema, hereditary, 5 MONDO:0019623 OMIM:619361 OMIMPS:106100 hereditary angioedema MONDO:0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 MONDO:0025986 OMIM:619362 OMIMPS:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 MONDO:0025986 OMIM:619365 OMIMPS:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0030298 angioedema, hereditary, 8 MONDO:0019623 OMIM:619367 OMIMPS:106100 hereditary angioedema MONDO:0030302 immunodeficiency 81 MONDO:0021094 OMIM:619374 OMIMPS:300755 immunodeficiency disease MONDO:0030307 spermatogenic failure 55 MONDO:0004983 OMIM:619380 OMIMPS:258150 spermatogenic failure MONDO:0030308 immunodeficiency 82 with systemic inflammation MONDO:0021094 OMIM:619381 OMIMPS:300755 immunodeficiency disease MONDO:0030311 combined oxidative phosphorylation deficiency 52 MONDO:0000732 OMIM:619386 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030312 spinocerebellar ataxia, autosomal recessive 29 MONDO:0015244 OMIM:619389 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0030314 inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive MONDO:0005265 OMIM:619398 OMIMPS:266600 inflammatory bowel disease MONDO:0030316 lymphatic malformation 11 MONDO:0019313 OMIM:619401 OMIMPS:153100 lymphatic malformation MONDO:0030317 cardiomyopathy, familial hypertrophic, 28 MONDO:0024573 OMIM:619402 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0030318 spinocerebellar ataxia, autosomal recessive 30 MONDO:0015244 OMIM:619405 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0030323 spinocerebellar ataxia, autosomal recessive 31 MONDO:0015244 OMIM:619422 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) MONDO:0018158 OMIM:619425 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 MONDO:0025986 OMIM:619431 OMIMPS:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0030330 cardiomyopathy, familial restrictive, 6 MONDO:0016340 OMIM:619433 OMIMPS:115210 familial restrictive cardiomyopathy MONDO:0030331 Ritscher-Schinzel syndrome 4 MONDO:0019078 OMIM:619435 OMIMPS:220210 Ritscher-Schinzel syndrome MONDO:0030332 ciliary dyskinesia, primary, 46 MONDO:0016575 OMIM:619436 OMIMPS:244400 primary ciliary dyskinesia MONDO:0030333 immunodeficiency 84 MONDO:0021094 OMIM:619437 OMIMPS:300755 immunodeficiency disease MONDO:0030335 diarrhea 12, with microvillus atrophy MONDO:0000824 OMIM:619445 OMIMPS:214700 congenital diarrhea MONDO:0030337 cutis laxa, autosomal recessive, type 2E MONDO:0100237 OMIM:619451 OMIMPS:123700 inherited cutis laxa MONDO:0030338 anencephaly 2 MONDO:0000819 OMIM:619452 OMIMPS:206500 anencephaly MONDO:0030339 microcephaly 28, primary, autosomal recessive MONDO:0016660 OMIM:619453 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MONDO:0018940 OMIM:619461 OMIMPS:601462 congenital myasthenic syndrome MONDO:0030346 ciliary dyskinesia, primary, 47, and lissencephaly MONDO:0016575 OMIM:619466 OMIMPS:244400 primary ciliary dyskinesia MONDO:0030353 Joubert syndrome 38 MONDO:0018772 OMIM:619476 OMIMPS:213300 Joubert syndrome MONDO:0030354 facioscapulohumeral muscular dystrophy 3, digenic MONDO:0001347 OMIM:619477 OMIMPS:158900 facioscapulohumeral muscular dystrophy MONDO:0030355 facioscapulohumeral muscular dystrophy 4, digenic MONDO:0001347 OMIM:619478 OMIMPS:158900 facioscapulohumeral muscular dystrophy MONDO:0030356 short-rib thoracic dysplasia 21 without polydactyly MONDO:0018770 OMIM:619479 OMIMPS:208500 Jeune syndrome MONDO:0030360 cholestasis, progressive familial intrahepatic, 6 MONDO:0015762 OMIM:619484 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030361 Aicardi-Goutieres syndrome 8 MONDO:0018866 OMIM:619486 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0030362 Aicardi-Goutieres syndrome 9 MONDO:0018866 OMIM:619487 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0030374 WHIM syndrome 2 MONDO:0023880 OMIM:619407 OMIMPS:193670 WHIM syndrome MONDO:0030375 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 MONDO:0024189 OMIM:619418 OMIMPS:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:0030376 Martsolf syndrome 2 MONDO:0023910 OMIM:619420 OMIMPS:212720 Martsolf syndrome MONDO:0030378 combined oxidative phosphorylation deficiency 53 MONDO:0000732 OMIM:619423 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030397 portal hypertension, noncirrhotic, 2 MONDO:0024193 OMIM:619463 OMIMPS:617068 portal hypertension, noncirrhotic MONDO:0030399 visceral neuropathy, familial, 2, autosomal recessive MONDO:0023961 OMIM:619465 OMIMPS:243180 visceral neuropathy, familial MONDO:0030423 congenital disorder of glycosylation, type 2v MONDO:0005501 OMIM:619493 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0030428 immunodeficiency 85 and autoimmunity MONDO:0021094 OMIM:619510 OMIMPS:300755 immunodeficiency disease MONDO:0030430 spermatogenic failure 56 MONDO:0004983 OMIM:619515 OMIMPS:258150 spermatogenic failure MONDO:0030433 Charcot-Marie-Tooth disease, axonal, type 2FF MONDO:0015626 OMIM:619519 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0030436 anemia, sideroblastic, 5 MONDO:0020099 OMIM:619523 OMIMPS:300751 inherited sideroblastic anemia MONDO:0030437 congenital disorder of glycosylation, type IIw MONDO:0005501 OMIM:619525 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0030438 pontocerebellar hypoplasia, type 16 MONDO:0020135 OMIM:619527 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0030439 spermatogenic failure 57 MONDO:0004983 OMIM:619528 OMIMPS:258150 spermatogenic failure MONDO:0030440 cone-rod dystrophy 22 MONDO:0015993 OMIM:619531 OMIMPS:120970 cone-rod dystrophy MONDO:0030448 immunodeficiency 86 MONDO:0021094 OMIM:619549 OMIMPS:300755 immunodeficiency disease MONDO:0030449 hearing loss, autosomal recessive 118, with cochlear aplasia MONDO:0019588 OMIM:619553 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0030453 developmental and epileptic encephalopathy 97 MONDO:0100062 OMIM:619561 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030454 Joubert syndrome 39 MONDO:0018772 OMIM:619562 OMIMPS:213300 Joubert syndrome MONDO:0030455 dystonia 31 MONDO:0044807 OMIM:619565 OMIMPS:128100 inherited dystonia MONDO:0030456 muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0015152 OMIM:619566 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0030457 immunodeficiency 87 and autoimmunity MONDO:0021094 OMIM:619573 OMIMPS:300755 immunodeficiency disease MONDO:0030458 Charcot-Marie-Tooth disease, axonal, Type 2HH MONDO:0015626 OMIM:619574 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0030462 Joubert syndrome 40 MONDO:0018772 OMIM:619582 OMIMPS:213300 Joubert syndrome MONDO:0030463 spermatogenic failure 58 MONDO:0004983 OMIM:619585 OMIMPS:258150 spermatogenic failure MONDO:0030465 cataract 49 MONDO:0005129 OMIM:619593 OMIMPS:116200 cataract MONDO:0030471 Galloway-Mowat syndrome 9 MONDO:0009627 OMIM:619603 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0030472 developmental and epileptic encephalopathy 98 MONDO:0100062 OMIM:619605 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030473 developmental and epileptic encephalopathy 99 MONDO:0100062 OMIM:619606 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030474 heterotaxy, visceral, 10, autosomal, with male infertility MONDO:0018677 OMIM:619607 OMIMPS:306955 visceral heterotaxy MONDO:0030475 heterotaxy, visceral, 11, autosomal, with male infertility MONDO:0018677 OMIM:619608 OMIMPS:306955 visceral heterotaxy MONDO:0030476 Galloway-Mowat syndrome 10 MONDO:0009627 OMIM:619609 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0030480 hearing loss, autosomal recessive 119 MONDO:0019588 OMIM:619615 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0030483 immunodeficiency 88 MONDO:0021094 OMIM:619630 OMIMPS:300755 immunodeficiency disease MONDO:0030484 immunodeficiency 89 and autoimmunity MONDO:0021094 OMIM:619632 OMIMPS:300755 immunodeficiency disease MONDO:0030486 dystonia 32 MONDO:0044807 OMIM:619637 OMIMPS:128100 inherited dystonia MONDO:0030487 spondylometaphyseal dysplasia, pagnamenta type MONDO:0016763 OMIM:619638 OMIMPS:184255 spondylometaphyseal dysplasia MONDO:0030489 epidermolysis bullosa simplex 2A, generalized severe MONDO:0017610 OMIM:619555 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0030490 oocyte maturation defect 11 MONDO:0014769 OMIM:619643 OMIMPS:615774 inherited oocyte maturation defect MONDO:0030491 immunodeficiency 91 and hyperinflammation MONDO:0021094 OMIM:619644 OMIMPS:300755 immunodeficiency disease MONDO:0030492 spermatogenic failure 59 MONDO:0004983 OMIM:619645 OMIMPS:258150 spermatogenic failure MONDO:0030493 spermatogenic failure 60 MONDO:0004983 OMIM:619646 OMIMPS:258150 spermatogenic failure MONDO:0030498 immunodeficiency 92 MONDO:0021094 OMIM:619652 OMIMPS:300755 immunodeficiency disease MONDO:0030500 Loeys-Dietz syndrome 6 MONDO:0018954 OMIM:619656 OMIMPS:609192 Loeys-Dietz syndrome MONDO:0030503 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss MONDO:0015762 OMIM:619658 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030505 cholestasis, progressive familial intrahepatic, 8 MONDO:0015762 OMIM:619662 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030506 ovarian dysgenesis 9 MONDO:0009299 OMIM:619665 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0030507 spermatogenic failure 61 MONDO:0004983 OMIM:619672 OMIMPS:258150 spermatogenic failure MONDO:0030508 spermatogenic failure 62 MONDO:0004983 OMIM:619673 OMIMPS:258150 spermatogenic failure MONDO:0030513 dystonia 33 MONDO:0044807 OMIM:619687 OMIMPS:128100 inherited dystonia MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy MONDO:0019046 OMIM:619688 OMIMPS:312080 leukodystrophy MONDO:0030515 spermatogenic failure 63 MONDO:0004983 OMIM:619689 OMIMPS:258150 spermatogenic failure MONDO:0030517 trichothiodystrophy 8, nonphotosensitive MONDO:0018053 OMIM:619691 OMIMPS:601675 trichothiodystrophy MONDO:0030518 trichothiodystrophy 9, nonphotosensitive MONDO:0018053 OMIM:619692 OMIMPS:601675 trichothiodystrophy MONDO:0030519 agammaglobulinemia 9, autosomal recessive MONDO:0015977 OMIM:619693 OMIMPS:601495 agammaglobulinemia MONDO:0030522 spermatogenic failure 64 MONDO:0004983 OMIM:619696 OMIMPS:258150 spermatogenic failure MONDO:0030523 oocyte maturation defect 12 MONDO:0014769 OMIM:619697 OMIMPS:615774 inherited oocyte maturation defect MONDO:0030524 mucopolysaccharidosis, type 10 MONDO:0019249 OMIM:619698 OMIMPS:607014 mucopolysaccharidosis MONDO:0030525 epidermolysis bullosa simplex 2B, generalized intermediate MONDO:0017610 OMIM:619588 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0030527 epidermolysis bullosa simplex 2C, localized MONDO:0017610 OMIM:619594 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0030528 immunodeficiency 93 and hypertrophic cardiomyopathy MONDO:0021094 OMIM:619705 OMIMPS:300755 immunodeficiency disease MONDO:0030529 agammaglobulinemia 10, autosomal dominant MONDO:0015977 OMIM:619707 OMIMPS:601495 agammaglobulinemia MONDO:0030531 spermatogenic failure 65 MONDO:0004983 OMIM:619712 OMIMPS:258150 spermatogenic failure MONDO:0030533 intellectual developmental disorder, autosomal recessive 73 MONDO:0019502 OMIM:619717 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0030534 hypogonadotropic hypogonadism 26 with or without anosmia MONDO:0018555 OMIM:619718 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive MONDO:0017610 OMIM:619599 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction MONDO:0800031 OMIM:619482 OMIMPS:209880 central hypoventilation syndrome, congenital MONDO:0030538 dystonia 34, myoclonic MONDO:0044807 OMIM:619724 OMIMPS:128100 inherited dystonia MONDO:0030539 central hypoventilation syndrome, congenital, 3 MONDO:0800031 OMIM:619483 OMIMPS:209880 central hypoventilation syndrome, congenital MONDO:0030543 combined oxidative phosphorylation deficiency 54 MONDO:0000732 OMIM:619737 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030549 hearing loss, autosomal dominant 81 MONDO:0019587 OMIM:619500 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0030553 acromesomelic dysplasia 4 MONDO:0019696 OMIM:619636 OMIMPS:602875 acromesomelic dysplasia MONDO:0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1 MONDO:0031200 OMIM:619720 OMIMPS:619720 Bryant-Li-Bhoj neurodevelopmental syndrome MONDO:0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2 MONDO:0031200 OMIM:619721 OMIMPS:619720 Bryant-Li-Bhoj neurodevelopmental syndrome MONDO:0030608 interstitial lung disease 1 MONDO:0031199 OMIM:619611 OMIMPS:619611 inherited interstitial lung disease MONDO:0030619 retinitis pigmentosa 92 MONDO:0019200 OMIM:619614 OMIMPS:268000 retinitis pigmentosa MONDO:0030625 dyskinesia with orofacial involvement, autosomal recessive MONDO:0031115 OMIM:619647 OMIMPS:606703 dyskinesia with orofacial involvement MONDO:0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2 MONDO:0030796 OMIM:619661 OMIMPS:221820 leukoencephalopathy, hereditary diffuse, with spheroids MONDO:0030674 Teebi hypertelorism syndrome 2 MONDO:0030639 OMIM:619736 OMIMPS:145420 Teebi hypertelorism syndrome MONDO:0030676 parkinsonism-dystonia 3, childhood-onset MONDO:0013150 OMIM:619738 OMIMPS:613135 parkinsonism-dystonia, infantile MONDO:0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I MONDO:0015626 OMIM:619742 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0030679 Noonan syndrome 14 MONDO:0018997 OMIM:619745 OMIMPS:163950 Noonan syndrome MONDO:0030684 hypogonadotropic hypogonadism 27 without anosmia MONDO:0018555 OMIM:619755 OMIMPS:147950 hypogonadotropic hypogonadism MONDO:0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H MONDO:0015626 OMIM:619764 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0030690 pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 MONDO:0000148 OMIM:619767 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0030692 immunodeficiency 95 MONDO:0021094 OMIM:619773 OMIMPS:300755 immunodeficiency disease MONDO:0030693 immunodeficiency 96 MONDO:0021094 OMIM:619774 OMIMPS:300755 immunodeficiency disease MONDO:0030695 developmental and epileptic encephalopathy 100 MONDO:0100062 OMIM:619777 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030696 mitochondrial DNA depletion syndrome 20 (mngie type) MONDO:0018158 OMIM:619780 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0030697 myopia 28, autosomal recessive MONDO:0001384 OMIM:619781 OMIMPS:160700 myopia MONDO:0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive MONDO:0019403 OMIM:619789 OMIMPS:224120 congenital dyserythropoietic anemia MONDO:0030712 oculopharyngodistal myopathy 4 MONDO:0025193 OMIM:619790 OMIMPS:164310 oculopharyngodistal myopathy MONDO:0030714 osteogenesis imperfecta, IIA 22 MONDO:0019019 OMIM:619795 OMIMPS:166200 osteogenesis imperfecta MONDO:0030716 spermatogenic failure 66 MONDO:0004983 OMIM:619799 OMIMPS:258150 spermatogenic failure MONDO:0030717 immunodeficiency 97 with autoinflammation MONDO:0021094 OMIM:619802 OMIMPS:300755 immunodeficiency disease MONDO:0030718 spermatogenic failure 67 MONDO:0004983 OMIM:619803 OMIMPS:258150 spermatogenic failure MONDO:0030719 hearing loss, autosomal dominant 82 MONDO:0019587 OMIM:619804 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0030721 spermatogenic failure 68 MONDO:0004983 OMIM:619805 OMIMPS:258150 spermatogenic failure MONDO:0030723 hearing loss, autosomal dominant 83 MONDO:0019587 OMIM:619808 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0030724 hearing loss, autosomal dominant 84 MONDO:0019587 OMIM:619810 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0030726 neutropenia, severe congenital, 9, autosomal dominant MONDO:0018542 OMIM:619813 OMIMPS:202700 severe congenital neutropenia MONDO:0030727 developmental and epileptic encephalopathy 101 MONDO:0100062 OMIM:619814 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030729 Tessadori-van Haaften neurodevelopmental syndrome 1 MONDO:0031400 OMIM:619758 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0030730 Tessadori-van Haaften neurodevelopmental syndrome 2 MONDO:0031400 OMIM:619759 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0030731 aortic aneurysm, familial thoracic 12 MONDO:0019625 OMIM:619825 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0030732 spermatogenic failure 69 MONDO:0004983 OMIM:619826 OMIMPS:258150 spermatogenic failure MONDO:0030733 spermatogenic failure 70 MONDO:0004983 OMIM:619828 OMIMPS:258150 spermatogenic failure MONDO:0030736 ovarian dysgenesis 10 MONDO:0009299 OMIM:619834 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0030746 epidermolysis bullosa, junctional 2A, intermediate MONDO:0017612 OMIM:619783 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0030747 epidermolysis bullosa, junctional 2B, severe MONDO:0017612 OMIM:619784 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0030748 epidermolysis bullosa, junctional 3A, intermediate MONDO:0017612 OMIM:619785 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0030749 epidermolysis bullosa, junctional 3B, severe MONDO:0017612 OMIM:619786 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0030750 epidermolysis bullosa, junctional 4, intermediate MONDO:0017612 OMIM:619787 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0030756 Stuve-Wiedemann syndrome 2 MONDO:0031280 OMIM:619751 OMIMPS:601559 Stuve-Wiedemann syndrome MONDO:0030768 epidermolysis bullosa, junctional 5A, intermediate MONDO:0017612 OMIM:619816 OMIMPS:226650 junctional epidermolysis bullosa MONDO:0030770 congenital disorder of deglycosylation 2 MONDO:0031376 OMIM:619775 OMIMPS:615273 congenital disorder of deglycosylation MONDO:0030781 restrictive dermopathy 2 MONDO:0031213 OMIM:619793 OMIMPS:275210 restrictive dermopathy MONDO:0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly MONDO:0019502 OMIM:619827 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0030787 spermatogenic failure 71 MONDO:0004983 OMIM:619831 OMIMPS:258150 spermatogenic failure MONDO:0030797 retinitis pigmentosa 93 MONDO:0019200 OMIM:619845 OMIMPS:268000 retinitis pigmentosa MONDO:0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias MONDO:0021094 OMIM:619846 OMIMPS:300755 immunodeficiency disease MONDO:0030800 cholestasis, progressive familial intrahepatic, 9 MONDO:0015762 OMIM:619849 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 MONDO:0044645 OMIM:619041 OMIMPS:252270 familial monosomy 7 syndrome MONDO:0030805 spinocerebellar ataxia 49 MONDO:0020380 OMIM:619806 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0030809 spermatogenic failure 72 MONDO:0004983 OMIM:619867 OMIMPS:258150 spermatogenic failure MONDO:0030810 cholestasis, progressive familial intrahepatic, 10 MONDO:0015762 OMIM:619868 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030813 immunodeficiency 101 (varicella zoster virus-specific) MONDO:0021094 OMIM:619872 OMIMPS:300755 immunodeficiency disease MONDO:0030815 cholestasis, progressive familial intrahepatic, 11 MONDO:0015762 OMIM:619874 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0030818 spermatogenic failure 73 MONDO:0004983 OMIM:619878 OMIMPS:258150 spermatogenic failure MONDO:0030819 meckel syndrome 14 MONDO:0018921 OMIM:619879 OMIMPS:249000 Meckel syndrome MONDO:0030822 renal hypodysplasia/aplasia 4 MONDO:0018470 OMIM:619887 OMIMPS:191830 renal agenesis MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant MONDO:0031447 OMIM:619840 OMIMPS:613112 macrothrombocytopenia, isolated MONDO:0030839 thyroid hormone metabolism, abnormal, 2 MONDO:0031432 OMIM:619855 OMIMPS:609698 thyroid hormone metabolism, abnormal MONDO:0030840 mismatch repair cancer syndrome 2 MONDO:0031219 OMIM:619096 OMIMPS:276300 mismatch repair cancer syndrome MONDO:0030841 mismatch repair cancer syndrome 3 MONDO:0031219 OMIM:619097 OMIMPS:276300 mismatch repair cancer syndrome MONDO:0030843 mismatch repair cancer syndrome 4 MONDO:0031219 OMIM:619101 OMIMPS:276300 mismatch repair cancer syndrome MONDO:0030844 spermatogenic failure 47 MONDO:0004983 OMIM:619102 OMIMPS:258150 spermatogenic failure MONDO:0030846 spermatogenic failure 48 MONDO:0004983 OMIM:619108 OMIMPS:258150 spermatogenic failure MONDO:0030847 arthrogryposis, distal, type 1C MONDO:0019942 OMIM:619110 OMIMPS:108120 distal arthrogryposis MONDO:0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 MONDO:0016470 OMIM:619115 OMIMPS:619115 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 MONDO:0016470 OMIM:619120 OMIMPS:619115 Ehlers-Danlos/osteogenesis imperfecta syndrome MONDO:0030856 developmental and epileptic encephalopathy 89 MONDO:0100062 OMIM:619124 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030858 immunodeficiency 75 MONDO:0021094 OMIM:619126 OMIMPS:300755 immunodeficiency disease MONDO:0030861 osteogenesis imperfecta, type 21 MONDO:0019019 OMIM:619131 OMIMPS:166200 osteogenesis imperfecta MONDO:0030864 Ritscher-Schinzel syndrome 3 MONDO:0019078 OMIM:619135 OMIMPS:220210 Ritscher-Schinzel syndrome MONDO:0030867 thrombocytopenia 7 MONDO:0100241 OMIM:619130 OMIMPS:313900 inherited thrombocytopenia MONDO:0030868 spermatogenic failure 49 MONDO:0004983 OMIM:619144 OMIMPS:258150 spermatogenic failure MONDO:0030869 spermatogenic failures 50 MONDO:0004983 OMIM:619145 OMIMPS:258150 spermatogenic failure MONDO:0030870 premature ovarian failure 17 MONDO:0019852 OMIM:619146 OMIMPS:311360 inherited primary ovarian failure MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 MONDO:0005144 OMIM:619132 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 MONDO:0005144 OMIM:619141 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0030876 cardioacrofacial dysplasia 1 MONDO:0031386 OMIM:619142 OMIMPS:619142 cardioacrofacial dysplasia MONDO:0030877 cardioacrofacial dysplasia 2 MONDO:0031386 OMIM:619143 OMIMPS:619142 cardioacrofacial dysplasia MONDO:0030881 developmental and epileptic encephalopathy 102 MONDO:0100062 OMIM:619881 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030883 carpal tunnel syndrome 2 MONDO:0007275 OMIM:619161 OMIMPS:115430 carpal tunnel syndrome MONDO:0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia MONDO:0005144 OMIM:619133 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0030886 holoprosencephaly 14 MONDO:0016296 OMIM:619895 OMIMPS:236100 holoprosencephaly MONDO:0030890 pontocerebellar hypoplasia, IIA 17 MONDO:0020135 OMIM:619909 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0030891 intellectual developmental disorder, autosomal dominant 66 MONDO:0100172 OMIM:619910 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030894 AMED syndrome, digenic MONDO:0000159 OMIM:619151 OMIMPS:614675 bone marrow failure syndrome MONDO:0030895 nephrotic syndrome, type 22 MONDO:0002350 OMIM:619155 OMIMPS:256300 familial nephrotic syndrome MONDO:0030898 immunodeficiency 76 MONDO:0021094 OMIM:619164 OMIMPS:300755 immunodeficiency disease MONDO:0030899 oculocutaneous albinism type 8 MONDO:0018910 OMIM:619165 OMIMPS:203100 oculocutaneous albinism MONDO:0030902 mitochondrial complex 1 deficiency, nuclear type 36 MONDO:0100223 OMIM:619170 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0030903 Hermansky-Pudlak syndrome 11 MONDO:0019312 OMIM:619172 OMIMPS:203300 Hermansky-Pudlak syndrome MONDO:0030905 hearing loss, autosomal recessive 117 MONDO:0019588 OMIM:619174 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0030907 intellectual disability, X-linked 106 MONDO:0019181 OMIM:300997 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0030908 intellectual disability, X-linked, syndromic, 35 MONDO:0020119 OMIM:300998 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0030909 intellectual disability, X-linked, syndromic, Houge type MONDO:0020119 OMIM:301008 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0030915 intellectual disability, autosomal recessive 61 MONDO:0019502 OMIM:617773 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0030924 proteasome-associated autoinflammatory syndrome 5 MONDO:0009726 OMIM:619175 OMIMPS:256040 proteosome-associated autoinflammatory syndrome MONDO:0030925 oocyte maturation defect 10 MONDO:0014769 OMIM:619176 OMIMPS:615774 inherited oocyte maturation defect MONDO:0030926 spermatogenic failure 51 MONDO:0004983 OMIM:619177 OMIMPS:258150 spermatogenic failure MONDO:0030927 myofibrillar myopathy 11 MONDO:0018943 OMIM:619178 OMIMPS:601419 myofibrillar myopathy MONDO:0030931 proteasome-associated autoinflammatory syndrome 4 MONDO:0009726 OMIM:619183 OMIMPS:256040 proteosome-associated autoinflammatory syndrome MONDO:0030933 Joubert syndrome 37 MONDO:0018772 OMIM:619185 OMIMPS:213300 Joubert syndrome MONDO:0030934 intellectual developmental disorder, autosomal dominant 64 MONDO:0100172 OMIM:619188 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030935 mitochondrial complex 2 deficiency, nuclear type 2 MONDO:0031230 OMIM:619166 OMIMPS:252011 mitochondrial complex II deficiency, nuclear type MONDO:0030936 epilepsy, progressive myoclonic, 12 MONDO:0020074 OMIM:619191 OMIMPS:254800 progressive myoclonus epilepsy MONDO:0030937 mitochondrial complex 2 deficiency, nuclear type 3 MONDO:0031230 OMIM:619167 OMIMPS:252011 mitochondrial complex II deficiency, nuclear type MONDO:0030938 spermatogenic failure 52 MONDO:0004983 OMIM:619202 OMIMPS:258150 spermatogenic failure MONDO:0030939 premature ovarian failure 18 MONDO:0019852 OMIM:619203 OMIMPS:311360 inherited primary ovarian failure MONDO:0030941 erythrokeratodermia variabilis et progressiva 7 MONDO:0017851 OMIM:619209 OMIMPS:133200 erythrokeratodermia variabilis MONDO:0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0031439 OMIM:619184 OMIMPS:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies MONDO:0030957 developmental and epileptic encephalopathy 103 MONDO:0100062 OMIM:619913 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0030958 dystonia 35, childhood-onset MONDO:0044807 OMIM:619921 OMIMPS:128100 inherited dystonia MONDO:0030961 Olmsted syndrome 2 MONDO:0031421 OMIM:619208 OMIMPS:614594 Olmsted syndrome MONDO:0030962 nephrotic syndrome, type 23 MONDO:0002350 OMIM:619201 OMIMPS:256300 familial nephrotic syndrome MONDO:0030964 intellectual developmental disorder, autosomal dominant 67 MONDO:0100172 OMIM:619927 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030968 intellectual developmental disorder, autosomal recessive 76 MONDO:0019502 OMIM:619931 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0030969 intellectual developmental disorder, autosomal dominant 68 MONDO:0100172 OMIM:619934 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0030970 immunodeficiency 106, susceptibility to viral infections MONDO:0021094 OMIM:619935 OMIMPS:300755 immunodeficiency disease MONDO:0030971 immunodeficiency 78 with autoimmunity and developmental delay MONDO:0021094 OMIM:619220 OMIMPS:300755 immunodeficiency disease MONDO:0030972 spermatogenic failure 74 MONDO:0004983 OMIM:619937 OMIMPS:258150 spermatogenic failure MONDO:0030973 immunodeficiency 77 MONDO:0021094 OMIM:619223 OMIMPS:300755 immunodeficiency disease MONDO:0030974 mitochondrial complex 2 deficiency, nuclear type 4 MONDO:0031230 OMIM:619224 OMIMPS:252011 mitochondrial complex II deficiency, nuclear type MONDO:0030975 premature ovarian failure 20 MONDO:0019852 OMIM:619938 OMIMPS:311360 inherited primary ovarian failure MONDO:0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 MONDO:0015363 OMIM:619216 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0030983 Waardenburg syndrome, IIa 2F MONDO:0018094 OMIM:619947 OMIMPS:193500 Waardenburg syndrome MONDO:0030984 spermatogenic failure 75 MONDO:0004983 OMIM:619949 OMIMPS:258150 spermatogenic failure MONDO:0030985 premature ovarian failure 19 MONDO:0019852 OMIM:619245 OMIMPS:311360 inherited primary ovarian failure MONDO:0030989 spermatogenic failure 53 MONDO:0004983 OMIM:619258 OMIMPS:258150 spermatogenic failure MONDO:0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 MONDO:0031400 OMIM:619950 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0030996 bleeding disorder, platelet-type, 24 MONDO:0000009 OMIM:619271 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0030997 mitochondrial complex 1 deficiency, nuclear type 37 MONDO:0100223 OMIM:619272 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0030998 hearing loss, autosomal dominant 80 MONDO:0019587 OMIM:619274 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0031000 Tessadori-Van Haaften neurodevelopmental syndrome 4 MONDO:0031400 OMIM:619951 OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome MONDO:0031003 hypercholanemia, familial, 2 MONDO:0100327 OMIM:619256 OMIMPS:607748 hypercholanemia, familial MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome MONDO:0031009 Glanzmann thrombasthenia 2 MONDO:0100326 OMIM:619267 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031010 odontochondrodysplasia 2 with hearing loss and diabetes MONDO:0031169 OMIM:619269 OMIMPS:184260 odontochondrodysplasia MONDO:0031019 spastic paraplegia 87, autosomal recessive MONDO:0019064 OMIM:619966 OMIMPS:303350 hereditary spastic paraplegia MONDO:0031021 developmental and epileptic encephalopathy 104 MONDO:0100062 OMIM:619970 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitarism MONDO:0100062 OMIM:619983 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection MONDO:0021094 OMIM:619986 OMIMPS:300755 immunodeficiency disease MONDO:0031031 intellectual developmental disorder, autosomal recessive 77 MONDO:0019502 OMIM:619988 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0031040 cholestasis, progressive familial intrahepatic, 12 MONDO:0015762 OMIM:620010 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0031043 lymphatic malformation 12 MONDO:0019313 OMIM:620014 OMIMPS:153100 lymphatic malformation MONDO:0031044 advance sleep phase syndrome, familial, 4 MONDO:0015609 OMIM:620015 OMIMPS:604348 advanced sleep phase syndrome MONDO:0031045 arthrogryposis, distal, IIa 11 MONDO:0019942 OMIM:620019 OMIMPS:108120 distal arthrogryposis MONDO:0031047 Stickler syndrome, type 6 MONDO:0019354 OMIM:620022 OMIMPS:108300 Stickler syndrome MONDO:0031052 developmental and epileptic encephalopathy 106 MONDO:0100062 OMIM:620028 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0031054 ciliary dyskinesia, primary, 48, without situs inversus MONDO:0016575 OMIM:620032 OMIMPS:244400 primary ciliary dyskinesia MONDO:0031055 developmental and epileptic encephalopathy 107 MONDO:0100062 OMIM:620033 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0031057 dyskeratosis congenita, digenic MONDO:0015780 OMIM:620040 OMIMPS:127550 dyskeratosis congenita MONDO:0031060 microcephaly 29, primary, autosomal recessive MONDO:0016660 OMIM:620047 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0031061 nephrotic syndrome, IIa 26 MONDO:0002350 OMIM:620049 OMIMPS:256300 familial nephrotic syndrome MONDO:0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II MONDO:0015626 OMIM:620068 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0031071 Diamond-Blackfan anemia 21 MONDO:0015253 OMIM:620072 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0031077 spermatogenic failure 76 MONDO:0004983 OMIM:620084 OMIMPS:258150 spermatogenic failure MONDO:0031083 spermatogenic failure 77 MONDO:0004983 OMIM:620103 OMIMPS:258150 spermatogenic failure MONDO:0031084 amelogenesis imperfecta, IIa 1K MONDO:0019507 OMIM:620104 OMIMPS:104500 amelogenesis imperfecta MONDO:0031332 Glanzmann thrombasthenia 1 MONDO:0100326 OMIM:273800 OMIMPS:273800 Glanzmann thrombasthenia MONDO:0031446 hypercholanemia, familial 1 MONDO:0100327 OMIM:607748 OMIMPS:607748 hypercholanemia, familial MONDO:0031481 microcephaly, epilepsy, and diabetes syndrome 1 MONDO:0100328 OMIM:614231 OMIMPS:614231 microcephaly, epilepsy, and diabetes syndrome MONDO:0032526 spinocerebellar ataxia 48 MONDO:0020380 OMIM:618093 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0032564 hennekam lymphangiectasia-lymphedema syndrome 3 MONDO:0016256 OMIM:618154 OMIMPS:235510 Hennekam syndrome MONDO:0032567 isolated growth hormone deficiency, type 4 MONDO:0000050 OMIM:618157 OMIMPS:262400 isolated congenital growth hormone deficiency MONDO:0032570 Joubert syndrome 35 MONDO:0018772 OMIM:618161 OMIMPS:213300 Joubert syndrome MONDO:0032573 bone marrow failure syndrome 5 MONDO:0000159 OMIM:618165 OMIMPS:614675 bone marrow failure syndrome MONDO:0032575 diarrhea 9 MONDO:0000824 OMIM:618168 OMIMPS:214700 congenital diarrhea MONDO:0032577 retinitis pigmentosa 83 MONDO:0019200 OMIM:618173 OMIMPS:268000 retinitis pigmentosa MONDO:0032578 cortical dysplasia, complex, with other brain malformations 9 MONDO:0000904 OMIM:618174 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0032580 nephrotic syndrome, type 17 MONDO:0002350 OMIM:618176 OMIMPS:256300 familial nephrotic syndrome MONDO:0032581 nephrotic syndrome, type 18 MONDO:0002350 OMIM:618177 OMIMPS:256300 familial nephrotic syndrome MONDO:0032582 nephrotic syndrome, type 19 MONDO:0002350 OMIM:618178 OMIMPS:256300 familial nephrotic syndrome MONDO:0032583 microcephaly 24, primary, autosomal recessive MONDO:0016660 OMIM:618179 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0032584 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis MONDO:0019287 OMIM:618180 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0032586 diarrhea 10, protein-losing enteropathy type MONDO:0000824 OMIM:618183 OMIMPS:214700 congenital diarrhea MONDO:0032588 periventricular nodular heterotopia 8 MONDO:0020341 OMIM:618185 OMIMPS:300049 periventricular nodular heterotopia MONDO:0032590 ovarian dysgenesis 8 MONDO:0009299 OMIM:618187 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0032591 hyperparathyroidism, transient neonatal MONDO:0016166 OMIM:618188 OMIMPS:145000 hereditary hyperparathyroidism MONDO:0032596 myasthenic syndrome, congenital, 23, presynaptic MONDO:0018940 OMIM:618197 OMIMPS:601462 congenital myasthenic syndrome MONDO:0032597 myasthenic syndrome, congenital, 24, presynaptic MONDO:0018940 OMIM:618198 OMIMPS:601462 congenital myasthenic syndrome MONDO:0032598 developmental and epileptic encephalopathy, 68 MONDO:0100062 OMIM:618201 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032599 immunodeficiency 15a MONDO:0021094 OMIM:618204 OMIMPS:300755 immunodeficiency disease MONDO:0032603 polydactyly, postaxial, type A9 MONDO:0020927 OMIM:618219 OMIMPS:174200 postaxial polydactyly MONDO:0032604 retinitis pigmentosa 84 MONDO:0019200 OMIM:618220 OMIMPS:268000 retinitis pigmentosa MONDO:0032605 intellectual disability, autosomal recessive 66 MONDO:0019502 OMIM:618221 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0032606 mitochondrial complex 1 deficiency, nuclear type 2 MONDO:0100223 OMIM:618222 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032608 mitochondrial complex 1 deficiency, nuclear type 3 MONDO:0100223 OMIM:618224 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032609 mitochondrial complex 1 deficiency, nuclear type 4 MONDO:0100223 OMIM:618225 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032610 mitochondrial complex 1 deficiency, nuclear type 5 MONDO:0100223 OMIM:618226 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032611 mitochondrial complex 1 deficiency, nuclear type 6 MONDO:0100223 OMIM:618228 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032612 mitochondrial complex 1 deficiency, nuclear type 7 MONDO:0100223 OMIM:618229 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032613 mitochondrial complex 1 deficiency, nuclear type 8 MONDO:0100223 OMIM:618230 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032614 epidermodysplasia verruciformis, susceptibility to, 2 MONDO:0100043 OMIM:618231 OMIMPS:226400 epidermodysplasia verruciformis, susceptibility to MONDO:0032615 mitochondrial complex 1 deficiency, nuclear type 9 MONDO:0100223 OMIM:618232 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032616 mitochondrial complex 1 deficiency, nuclear type 10 MONDO:0100223 OMIM:618233 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032617 mitochondrial complex 1 deficiency, nuclear type 11 MONDO:0100223 OMIM:618234 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032618 mitochondrial complex 1 deficiency, nuclear type 13 MONDO:0100223 OMIM:618235 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032619 mitochondrial complex 1 deficiency, nuclear type 14 MONDO:0100223 OMIM:618236 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032620 mitochondrial complex 1 deficiency, nuclear type 15 MONDO:0100223 OMIM:618237 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032621 mitochondrial complex 1 deficiency, nuclear type 16 MONDO:0100223 OMIM:618238 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032622 mitochondrial complex 1 deficiency, nuclear type 17 MONDO:0100223 OMIM:618239 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032623 mitochondrial complex 1 deficiency, nuclear type 18 MONDO:0100223 OMIM:618240 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032624 mitochondrial complex 1 deficiency, nuclear type 19 MONDO:0100223 OMIM:618241 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032625 mitochondrial complex 1 deficiency, nuclear type 21 MONDO:0100223 OMIM:618242 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032626 mitochondrial complex 1 deficiency, nuclear type 22 MONDO:0100223 OMIM:618243 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032627 mitochondrial complex 1 deficiency, nuclear type 23 MONDO:0100223 OMIM:618244 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032628 mitochondrial complex 1 deficiency, nuclear type 24 MONDO:0100223 OMIM:618245 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032629 mitochondrial complex 1 deficiency, nuclear type 25 MONDO:0100223 OMIM:618246 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032630 mitochondrial complex 1 deficiency, nuclear type 26 MONDO:0100223 OMIM:618247 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032631 mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0100223 OMIM:618248 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032632 mitochondrial complex 1 deficiency, nuclear type 28 MONDO:0100223 OMIM:618249 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032633 mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0100223 OMIM:618250 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032634 mitochondrial complex 1 deficiency, nuclear type 31 MONDO:0100223 OMIM:618251 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032635 mitochondrial complex 1 deficiency, nuclear type 32 MONDO:0100223 OMIM:618252 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032636 mitochondrial complex 1 deficiency, nuclear type 33 MONDO:0100223 OMIM:618253 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032637 ciliary dyskinesia, primary, 39 MONDO:0016575 OMIM:618254 OMIMPS:244400 primary ciliary dyskinesia MONDO:0032639 hearing loss, autosomal recessive 112 MONDO:0019588 OMIM:618257 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0032641 mirror movements 4 MONDO:0016558 OMIM:618264 OMIMPS:157600 familial congenital mirror movements MONDO:0032643 pontocerebellar hypoplasia, type 12 MONDO:0020135 OMIM:618266 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0032644 epidermodysplasia verruciformis, susceptibility to, 3 MONDO:0100043 OMIM:618267 OMIMPS:226400 epidermodysplasia verruciformis, susceptibility to MONDO:0032646 congenital anomalies of kidney and urinary tract 3 MONDO:0019719 OMIM:618270 OMIMPS:610805 congenital anomaly of kidney and urinary tract MONDO:0032649 hypotrichosis 14 MONDO:0003037 OMIM:618275 OMIMPS:605389 hypotrichosis MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive MONDO:0018037 OMIM:618282 OMIMPS:147060 hyper-IgE syndrome MONDO:0032657 developmental and epileptic encephalopathy, 69 MONDO:0100062 OMIM:618285 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032660 spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant MONDO:0018190 OMIM:618291 OMIMPS:158600 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0032662 intellectual developmental disorder, autosomal recessive 67 MONDO:0019502 OMIM:618295 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0032663 developmental and epileptic encephalopathy, 70 MONDO:0100062 OMIM:618298 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032664 ciliary dyskinesia, primary, 40 MONDO:0016575 OMIM:618300 OMIMPS:244400 primary ciliary dyskinesia MONDO:0032665 intellectual developmental disorder, autosomal recessive 68 MONDO:0019502 OMIM:618302 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0032666 epidermodysplasia verruciformis, susceptibility to, 4 MONDO:0100043 OMIM:618307 OMIMPS:226400 epidermodysplasia verruciformis, susceptibility to MONDO:0032667 epidermodysplasia verruciformis, susceptibility to, 5 MONDO:0100043 OMIM:618309 OMIMPS:226400 epidermodysplasia verruciformis, susceptibility to MONDO:0032668 Diamond-Blackfan anemia 18 MONDO:0015253 OMIM:618310 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0032669 Diamond-Blackfan anemia 19 MONDO:0015253 OMIM:618312 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0032670 Diamond-Blackfan anemia 20 MONDO:0015253 OMIM:618313 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0032673 basal ganglia calcification, idiopathic, 7, autosomal recessive MONDO:0008947 OMIM:618317 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0032675 myasthenic syndrome, congenital, 25, presynaptic MONDO:0018940 OMIM:618323 OMIMPS:601462 congenital myasthenic syndrome MONDO:0032678 developmental and epileptic encephalopathy, 71 MONDO:0100062 OMIM:618328 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032679 combined oxidative phosphorylation deficiency 37 MONDO:0000732 OMIM:618329 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0032686 spermatogenic failure 35 MONDO:0004983 OMIM:618341 OMIMPS:258150 spermatogenic failure MONDO:0032689 retinitis pigmentosa 85 MONDO:0019200 OMIM:618345 OMIMPS:268000 retinitis pigmentosa MONDO:0032691 Galloway-Mowat syndrome 6 MONDO:0009627 OMIM:618347 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0032692 Galloway-Mowat syndrome 7 MONDO:0009627 OMIM:618348 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0032693 Galloway-Mowat syndrome 8 MONDO:0009627 OMIM:618349 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0032694 microcephaly 25, primary, autosomal recessive MONDO:0016660 OMIM:618351 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0032696 oocyte maturation defect 6 MONDO:0014769 OMIM:618353 OMIMPS:615774 inherited oocyte maturation defect MONDO:0032697 Houge-Janssens syndrome 3 MONDO:0957553 OMIM:618354 OMIMPS:616355 Houge-Janssens syndrome MONDO:0032702 Coffin-Siris syndrome 8 MONDO:0015452 OMIM:618362 OMIMPS:135900 Coffin-Siris syndrome MONDO:0032706 spinocerebellar ataxia, autosomal recessive 27 MONDO:0015244 OMIM:618369 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0032710 developmental and epileptic encephalopathy, 72 MONDO:0100062 OMIM:618374 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032712 combined oxidative phosphorylation deficiency 38 MONDO:0000732 OMIM:618378 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0032715 intellectual developmental disorder, autosomal recessive 69 MONDO:0019502 OMIM:618383 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0032723 immunodeficiency 60 MONDO:0021094 OMIM:618394 OMIMPS:300755 immunodeficiency disease MONDO:0032724 spondyloepimetaphyseal dysplasia with joint laxity, type 3 MONDO:0019675 OMIM:618395 OMIMPS:271640 spondyloepimetaphyseal dysplasia with joint laxity MONDO:0032725 developmental and epileptic encephalopathy, 74 MONDO:0100062 OMIM:618396 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0000732 OMIM:618397 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0032729 intellectual developmental disorder, autosomal recessive 70 MONDO:0019502 OMIM:618402 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0032730 leukodystrophy, hypomyelinating, 18 MONDO:0019046 OMIM:618404 OMIMPS:312080 leukodystrophy MONDO:0032732 hearing loss, autosomal recessive 113 MONDO:0019588 OMIM:618410 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0032735 cataract 48 MONDO:0005129 OMIM:618415 OMIMPS:116200 cataract MONDO:0032739 spermatogenic failure 36 MONDO:0004983 OMIM:618420 OMIMPS:258150 spermatogenic failure MONDO:0032740 hearing loss, autosomal recessive 100 MONDO:0019588 OMIM:618422 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0032744 spermatogenic failure 37 MONDO:0004983 OMIM:618429 OMIMPS:258150 spermatogenic failure MONDO:0032746 hydatidiform mole, recurrent, 3 MONDO:0006248 OMIM:618431 OMIMPS:231090 hydatidiform mole MONDO:0032747 hydatidiform mole, recurrent, 4 MONDO:0006248 OMIM:618432 OMIMPS:231090 hydatidiform mole MONDO:0032748 spermatogenic failure 38 MONDO:0004983 OMIM:618433 OMIMPS:258150 spermatogenic failure MONDO:0032749 hearing loss, autosomal recessive 94 MONDO:0019588 OMIM:618434 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0032752 developmental and epileptic encephalopathy, 75 MONDO:0100062 OMIM:618437 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032753 spastic ataxia 9, autosomal recessive MONDO:0017845 OMIM:618438 OMIMPS:108600 spastic ataxia MONDO:0032756 long qt syndrome 8 MONDO:0019171 OMIM:618447 OMIMPS:192500 familial long QT syndrome MONDO:0032757 ciliary dyskinesia, primary, 41 MONDO:0016575 OMIM:618449 OMIMPS:244400 primary ciliary dyskinesia MONDO:0032761 hearing loss, autosomal recessive 114 MONDO:0019588 OMIM:618456 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0032762 hearing loss, autosomal recessive 115 MONDO:0019588 OMIM:618457 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0032763 immunodeficiency 62 MONDO:0021094 OMIM:618459 OMIMPS:300755 immunodeficiency disease MONDO:0032765 bleeding disorder, platelet-type, 22 MONDO:0000009 OMIM:618462 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0032767 paragangliomas 6 MONDO:0000448 OMIM:618464 OMIMPS:168000 paraganglioma MONDO:0032768 developmental and epileptic encephalopathy, 76 MONDO:0100062 OMIM:618468 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032771 paragangliomas 7 MONDO:0000448 OMIM:618475 OMIMPS:168000 paraganglioma MONDO:0032776 hearing loss, autosomal recessive 99 MONDO:0019588 OMIM:618481 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0032777 generalized epilepsy with febrile seizures plus, type 10 MONDO:0018214 OMIM:618482 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0032778 arthrogryposis multiplex congenita 3, myogenic type MONDO:0015168 OMIM:618484 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0032782 immunodeficiency 63 with lymphoproliferation and autoimmunity MONDO:0021094 OMIM:618495 OMIMPS:300755 immunodeficiency disease MONDO:0032783 aortic valve disease 3 MONDO:0007194 OMIM:618496 OMIMPS:109730 familial bicuspid aortic valve MONDO:0032785 polydactyly, postaxial, type a10 MONDO:0020927 OMIM:618498 OMIMPS:174200 postaxial polydactyly MONDO:0032786 Noonan syndrome 11 MONDO:0018997 OMIM:618499 OMIMPS:163950 Noonan syndrome MONDO:0032787 holoprosencephaly 12 with or without pancreatic agenesis MONDO:0016296 OMIM:618500 OMIMPS:236100 holoprosencephaly MONDO:0032789 intellectual developmental disorder, autosomal recessive 71 MONDO:0019502 OMIM:618504 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0032791 Coffin-Siris syndrome 10 MONDO:0015452 OMIM:618506 OMIMPS:135900 Coffin-Siris syndrome MONDO:0032794 leber congenital amaurosis 19 MONDO:0018998 OMIM:618513 OMIMPS:204000 Leber congenital amaurosis MONDO:0032796 hyper-IgE recurrent infection syndrome 4, autosomal recessive MONDO:0018037 OMIM:618523 OMIMPS:147060 hyper-IgE syndrome MONDO:0032797 myopathy, congenital, with tremor MONDO:0019952 OMIM:618524 OMIMPS:117000 congenital myopathy MONDO:0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) MONDO:0018158 OMIM:618528 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0032800 robinow syndrome, autosomal recessive 2 MONDO:0019978 OMIM:618529 OMIMPS:268310 Robinow syndrome MONDO:0032801 erythrokeratodermia variabilis et progressiva 6 MONDO:0017851 OMIM:618531 OMIMPS:133200 erythrokeratodermia variabilis MONDO:0032802 hearing loss, autosomal dominant 37 MONDO:0019587 OMIM:618533 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0032803 immunodeficiency 64 MONDO:0021094 OMIM:618534 OMIMPS:300755 immunodeficiency disease MONDO:0032804 ectodermal dysplasia 15, hypohidrotic/hair type MONDO:0019287 OMIM:618535 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0032806 trichothiodystrophy 7, nonphotosensitive MONDO:0018053 OMIM:618546 OMIMPS:601675 trichothiodystrophy MONDO:0032808 developmental and epileptic encephalopathy, 77 MONDO:0100062 OMIM:618548 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032808 developmental and epileptic encephalopathy, 77 MONDO:0100247 OMIM:618548 OMIMPS:614080 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0032810 oocyte maturation defect 7 MONDO:0014769 OMIM:618550 OMIMPS:615774 inherited oocyte maturation defect MONDO:0032811 night blindness, congenital stationary, type1i MONDO:0016293 OMIM:618555 OMIMPS:310500 congenital stationary night blindness MONDO:0032812 developmental and epileptic encephalopathy, 78 MONDO:0100062 OMIM:618557 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032813 developmental and epileptic encephalopathy, 79 MONDO:0100062 OMIM:618559 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032815 mitochondrial DNA depletion syndrome 17 MONDO:0018158 OMIM:618567 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 MONDO:0000045 OMIM:618573 OMIMPS:275200 hypothyroidism, congenital, nongoitrous MONDO:0032821 myopathy, congenital, progressive, with scoliosis MONDO:0019952 OMIM:618578 OMIMPS:117000 congenital myopathy MONDO:0032822 developmental and epileptic encephalopathy, 80 MONDO:0100062 OMIM:618580 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032826 nephrotic syndrome, type 21 MONDO:0002350 OMIM:618594 OMIMPS:256300 familial nephrotic syndrome MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0020135 OMIM:618606 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0032834 retinitis pigmentosa 86 MONDO:0019200 OMIM:618613 OMIMPS:268000 retinitis pigmentosa MONDO:0032837 abdominal obesity-metabolic syndrome 4 MONDO:0000816 OMIM:618620 OMIMPS:605552 abdominal obesity-metabolic syndrome MONDO:0032839 noonan syndrome 12 MONDO:0018997 OMIM:618624 OMIMPS:163950 Noonan syndrome MONDO:0032844 infantile liver failure syndrome 3 MONDO:0000023 OMIM:618641 OMIMPS:615438 infantile liver failure MONDO:0032845 spermatogenic failure 39 MONDO:0004983 OMIM:618643 OMIMPS:258150 spermatogenic failure MONDO:0032846 osteogenesis imperfecta, type 20 MONDO:0019019 OMIM:618644 OMIMPS:166200 osteogenesis imperfecta MONDO:0032848 immunodeficiency 65, susceptibility to viral infections MONDO:0021094 OMIM:618648 OMIMPS:300755 immunodeficiency disease MONDO:0032852 myopathy, congenital, with structured cores and z-line abnormalities MONDO:0019952 OMIM:618654 OMIMPS:117000 congenital myopathy MONDO:0032854 zimmermann-laband syndrome 3 MONDO:0000200 OMIM:618658 OMIMPS:135500 Zimmermann-Laband syndrome MONDO:0032857 diarrhea 11, malabsorptive, congenital MONDO:0000824 OMIM:618662 OMIMPS:214700 congenital diarrhea MONDO:0032858 developmental and epileptic encephalopathy, 81 MONDO:0100062 OMIM:618663 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032859 spermatogenic failure 40 MONDO:0004983 OMIM:618664 OMIMPS:258150 spermatogenic failure MONDO:0032860 intellectual developmental disorder, autosomal recessive 72 MONDO:0019502 OMIM:618665 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0032863 spermatogenic failure 41 MONDO:0004983 OMIM:618670 OMIMPS:258150 spermatogenic failure MONDO:0032865 pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 MONDO:0000148 OMIM:618674 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0032866 cortical dysplasia, complex, with other brain malformations 10 MONDO:0000904 OMIM:618677 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 MONDO:0014471 OMIM:618683 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0032871 leukodystrophy, hypomyelinating, 19, transient infantile MONDO:0019046 OMIM:618688 OMIMPS:312080 leukodystrophy MONDO:0032872 ciliary dyskinesia, primary, 42 MONDO:0016575 OMIM:618695 OMIMPS:244400 primary ciliary dyskinesia MONDO:0032873 retinitis pigmentosa 87 with choroidal involvement MONDO:0019200 OMIM:618697 OMIMPS:268000 retinitis pigmentosa MONDO:0032874 ciliary dyskinesia, primary, 43 MONDO:0016575 OMIM:618699 OMIMPS:244400 primary ciliary dyskinesia MONDO:0032880 developmental and epileptic encephalopathy, 82 MONDO:0100062 OMIM:618721 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032881 premature ovarian failure 16 MONDO:0019852 OMIM:618723 OMIMPS:311360 inherited primary ovarian failure MONDO:0032891 aneurysm, intracranial berry, 12 MONDO:0016483 OMIM:618734 OMIMPS:105800 intracranial berry aneurysm MONDO:0032895 developmental and epileptic encephalopathy, 83 MONDO:0100062 OMIM:618744 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032896 spermatogenic failure 42 MONDO:0004983 OMIM:618745 OMIMPS:258150 spermatogenic failure MONDO:0032898 spermatogenic failure 43 MONDO:0004983 OMIM:618751 OMIMPS:258150 spermatogenic failure MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant MONDO:0018542 OMIM:618752 OMIMPS:202700 severe congenital neutropenia MONDO:0032902 Joubert syndrome 36 MONDO:0018772 OMIM:618763 OMIMPS:213300 Joubert syndrome MONDO:0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum MONDO:0015168 OMIM:618766 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0032904 corneal dystrophy, Meesmann, 2 MONDO:0007379 OMIM:618767 OMIMPS:122100 Meesmann corneal dystrophy MONDO:0032905 spastic paraplegia 81, autosomal recessive MONDO:0019064 OMIM:618768 OMIMPS:303350 hereditary spastic paraplegia MONDO:0032906 spastic paraplegia 82, autosomal recessive MONDO:0019064 OMIM:618770 OMIMPS:303350 hereditary spastic paraplegia MONDO:0032907 lymphatic malformation 8 MONDO:0019313 OMIM:618773 OMIMPS:153100 lymphatic malformation MONDO:0032909 mitochondrial complex 3 deficiency, nuclear type 10 MONDO:0020811 OMIM:618775 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0032910 mitochondrial complex 1 deficiency, nuclear type 34 MONDO:0100223 OMIM:618776 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0032911 hearing loss, autosomal dominant 75 MONDO:0019587 OMIM:618778 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0032912 Coffin-Siris syndrome 11 MONDO:0015452 OMIM:618779 OMIMPS:135900 Coffin-Siris syndrome MONDO:0032914 ciliary dyskinesia, primary, 44 MONDO:0016575 OMIM:618781 OMIMPS:244400 primary ciliary dyskinesia MONDO:0032915 long QT syndrome 16 MONDO:0017990 OMIM:618782 OMIMPS:604772 catecholaminergic polymorphic ventricular tachycardia MONDO:0032915 long QT syndrome 16 MONDO:0019171 OMIM:618782 OMIMPS:192500 familial long QT syndrome MONDO:0032917 hearing loss, autosomal dominant 76 MONDO:0019587 OMIM:618787 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0032918 developmental and epileptic encephalopathy, 84 MONDO:0100062 OMIM:618792 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0032923 spinocerebellar ataxia, autosomal recessive 28 MONDO:0015244 OMIM:618800 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0032924 ciliary dyskinesia, primary, 45 MONDO:0016575 OMIM:618801 OMIMPS:244400 primary ciliary dyskinesia MONDO:0032932 mitochondrial DNA depletion syndrome 18 MONDO:0018158 OMIM:618811 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0032936 myopathy, congenital, with respiratory insufficiency and bone fractures MONDO:0019952 OMIM:618822 OMIMPS:117000 congenital myopathy MONDO:0032937 myopathy, congenital proximal, with minicore lesions MONDO:0019952 OMIM:618823 OMIMPS:117000 congenital myopathy MONDO:0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive MONDO:0008947 OMIM:618824 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0032940 retinitis pigmentosa 88 MONDO:0019200 OMIM:618826 OMIMPS:268000 retinitis pigmentosa MONDO:0032941 myopia 27 MONDO:0001384 OMIM:618827 OMIMPS:160700 myopia MONDO:0033005 Galloway-Mowat syndrome 1 MONDO:0009627 OMIM:251300 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0033006 Galloway-Mowat syndrome 2, X-linked MONDO:0009627 OMIM:301006 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0033007 Galloway-Mowat syndrome 3 MONDO:0009627 OMIM:617729 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0033008 Galloway-Mowat syndrome 4 MONDO:0009627 OMIM:617730 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0033009 Galloway-Mowat syndrome 5 MONDO:0009627 OMIM:617731 OMIMPS:251300 Galloway-Mowat syndrome MONDO:0033010 erythrokeratodermia variabilis et progressiva 1 MONDO:0017851 OMIM:133200 OMIMPS:133200 erythrokeratodermia variabilis MONDO:0033012 erythrokeratodermia variabilis et progressiva 2 MONDO:0017851 OMIM:617524 OMIMPS:133200 erythrokeratodermia variabilis MONDO:0033013 erythrokeratodermia variabilis et progressiva 3 MONDO:0017851 OMIM:617525 OMIMPS:133200 erythrokeratodermia variabilis MONDO:0033014 erythrokeratodermia variabilis et progressiva 4 MONDO:0017851 OMIM:617526 OMIMPS:133200 erythrokeratodermia variabilis MONDO:0033015 erythrokeratodermia variabilis et progressiva 5 MONDO:0017851 OMIM:617756 OMIMPS:133200 erythrokeratodermia variabilis MONDO:0033044 Meckel syndrome 13 MONDO:0018921 OMIM:617562 OMIMPS:249000 Meckel syndrome MONDO:0033045 orofaciodigital syndrome 16 MONDO:0015375 OMIM:617563 OMIMPS:311200 orofaciodigital syndrome MONDO:0033046 Meier-Gorlin syndrome 8 MONDO:0016817 OMIM:617564 OMIMPS:224690 Meier-Gorlin syndrome MONDO:0033047 Perrault syndrome 6 MONDO:0017312 OMIM:617565 OMIMPS:233400 Perrault syndrome MONDO:0033091 ichthyosis, congenital, autosomal recessive 14 MONDO:0017265 OMIM:617571 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0033092 ichthyosis, congenital, autosomal recessive 13 MONDO:0017265 OMIM:617574 OMIMPS:242300 autosomal recessive congenital ichthyosis MONDO:0033115 spinocerebellar ataxia, autosomal recessive 25 MONDO:0015244 OMIM:617584 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0033116 spinocerebellar ataxia, autosomal recessive 26 MONDO:0015244 OMIM:617633 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0033123 exudative vitreoretinopathy 7 MONDO:0019516 OMIM:617572 OMIMPS:133780 exudative vitreoretinopathy MONDO:0033135 Charcot-Marie-Tooth disease, demyelinating, type 1G MONDO:0015626 OMIM:618279 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0033198 hearing loss, autosomal recessive 106 MONDO:0019588 OMIM:617637 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0033199 hearing loss, autosomal recessive 107 MONDO:0019588 OMIM:617639 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0033200 hearing loss, autosomal recessive 108 MONDO:0019588 OMIM:617654 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0033201 hearing loss, autosomal recessive 57 MONDO:0019588 OMIM:618003 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0033202 hearing loss, autosomal recessive 109 MONDO:0019588 OMIM:618013 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0033203 nephrotic syndrome 14 MONDO:0002350 OMIM:617575 OMIMPS:256300 familial nephrotic syndrome MONDO:0033204 ciliary dyskinesia, primary, 37 MONDO:0016575 OMIM:617577 OMIMPS:244400 primary ciliary dyskinesia MONDO:0033258 hearing loss, autosomal dominant 71 MONDO:0019587 OMIM:617605 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0033259 hearing loss, autosomal dominant 72 MONDO:0019587 OMIM:617606 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0033260 hearing loss, autosomal dominant 73 MONDO:0019587 OMIM:617663 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0033261 hearing loss, autosomal dominant 34, with or without inflammation MONDO:0019587 OMIM:617772 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0033262 nephrotic syndrome 15 MONDO:0002350 OMIM:617609 OMIMPS:256300 familial nephrotic syndrome MONDO:0033280 nephrotic syndrome 16 MONDO:0002350 OMIM:617783 OMIMPS:256300 familial nephrotic syndrome MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0017338 OMIM:617613 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0033308 Joubert syndrome 30 MONDO:0018772 OMIM:617622 OMIMPS:213300 Joubert syndrome MONDO:0033309 Joubert syndrome 32 MONDO:0018772 OMIM:617757 OMIMPS:213300 Joubert syndrome MONDO:0033310 Joubert syndrome 31 MONDO:0018772 OMIM:617761 OMIMPS:213300 Joubert syndrome MONDO:0033311 Joubert syndrome 33 MONDO:0018772 OMIM:617767 OMIMPS:213300 Joubert syndrome MONDO:0033361 developmental and epileptic encephalopathy, 52 MONDO:0100062 OMIM:617350 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033362 developmental and epileptic encephalopathy, 53 MONDO:0100062 OMIM:617389 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033363 developmental and epileptic encephalopathy, 54 MONDO:0100062 OMIM:617391 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033364 developmental and epileptic encephalopathy, 55 MONDO:0100062 OMIM:617599 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033365 developmental and epileptic encephalopathy, 56 MONDO:0100062 OMIM:617665 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033366 developmental and epileptic encephalopathy, 57 MONDO:0100062 OMIM:617771 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033367 developmental and epileptic encephalopathy, 58 MONDO:0100062 OMIM:617830 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033368 developmental and epileptic encephalopathy, 59 MONDO:0100062 OMIM:617904 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033369 developmental and epileptic encephalopathy, 60 MONDO:0100062 OMIM:617929 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033370 developmental and epileptic encephalopathy, 61 MONDO:0100062 OMIM:617933 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033371 developmental and epileptic encephalopathy, 62 MONDO:0100062 OMIM:617938 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033372 developmental and epileptic encephalopathy, 63 MONDO:0100062 OMIM:617976 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033373 developmental and epileptic encephalopathy, 64 MONDO:0100062 OMIM:618004 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033374 developmental and epileptic encephalopathy, 65 MONDO:0100062 OMIM:618008 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0033375 orofaciodigital syndrome 17 MONDO:0015375 OMIM:617926 OMIMPS:311200 orofaciodigital syndrome MONDO:0033479 spinocerebellar ataxia 44 MONDO:0020380 OMIM:617691 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0033482 spinocerebellar ataxia 47 MONDO:0020380 OMIM:617931 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0033483 erythrocytosis, familial, 5 MONDO:0001115 OMIM:617907 OMIMPS:133100 familial polycythemia MONDO:0033485 short-rib thoracic dysplasia 19 with or without polydactyly MONDO:0018770 OMIM:617895 OMIMPS:208500 Jeune syndrome MONDO:0033486 leukodystrophy, hypomyelinating, 14 MONDO:0019046 OMIM:617899 OMIMPS:312080 leukodystrophy MONDO:0033493 fibromatosis, gingival, 5 MONDO:0016070 OMIM:617626 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0033533 combined oxidative phosphorylation deficiency 45 MONDO:0000732 OMIM:618951 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0033534 combined oxidative phosphorylation deficiency 46 MONDO:0000732 OMIM:618952 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0033537 combined oxidative phosphorylation deficiency 47 MONDO:0000732 OMIM:618958 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0033541 immunodeficiency 69 MONDO:0021094 OMIM:618963 OMIMPS:300755 immunodeficiency disease MONDO:0033542 immunodeficiency 70 MONDO:0021094 OMIM:618969 OMIMPS:300755 immunodeficiency disease MONDO:0033545 mitochondrial DNA depletion syndrome 19 MONDO:0018158 OMIM:618972 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MONDO:0019952 OMIM:618975 OMIMPS:117000 congenital myopathy MONDO:0033549 optic atrophy 12 MONDO:0043878 OMIM:618977 OMIMPS:165500 hereditary optic atrophy MONDO:0033551 immunodeficiency 72 with autoinflammation MONDO:0021094 OMIM:618982 OMIMPS:300755 immunodeficiency disease MONDO:0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 MONDO:0000172 OMIM:618992 OMIMPS:613155 muscular dystrophy-dystroglycanopathy, type B MONDO:0033563 retinitis pigmentosa 90 MONDO:0019200 OMIM:619007 OMIMPS:268000 retinitis pigmentosa MONDO:0033564 oocyte maturation defect 8 MONDO:0014769 OMIM:619009 OMIMPS:615774 inherited oocyte maturation defect MONDO:0033565 oocyte maturation defect 9 MONDO:0014769 OMIM:619011 OMIMPS:615774 inherited oocyte maturation defect MONDO:0033566 combined oxidative phosphorylation deficiency 48 MONDO:0000732 OMIM:619012 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0033614 spastic paraplegia 83, autosomal recessive MONDO:0019064 OMIM:619027 OMIMPS:303350 hereditary spastic paraplegia MONDO:0033615 coenzyme q10 deficiency, primary, 9 MONDO:0018151 OMIM:619028 OMIMPS:607426 coenzyme Q10 deficiency MONDO:0033620 myofibrillar myopathy 10 MONDO:0018943 OMIM:619040 OMIMPS:601419 myofibrillar myopathy MONDO:0033622 spermatogenic failure 44 MONDO:0004983 OMIM:619044 OMIMPS:258150 spermatogenic failure MONDO:0033631 combined oxidative phosphorylation deficiency 51 MONDO:0000732 OMIM:619057 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0033635 mitochondrial complex 4 deficiency, nuclear type 3 MONDO:0033885 OMIM:619046 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033636 mitochondrial complex 4 deficiency, nuclear type 4 MONDO:0033885 OMIM:619048 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033637 mitochondrial complex 4 deficiency, nuclear type 7 MONDO:0033885 OMIM:619051 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033638 mitochondrial complex 4 deficiency, nuclear type 8 MONDO:0033885 OMIM:619052 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033639 mitochondrial complex 4 deficiency, nuclear type 10 MONDO:0033885 OMIM:619053 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033643 inflammatory bowel disease 30 MONDO:0005265 OMIM:619079 OMIMPS:266600 inflammatory bowel disease MONDO:0033645 mitochondrial complex 4 deficiency, nuclear type 11 MONDO:0033885 OMIM:619054 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033646 mitochondrial complex 4 deficiency, nuclear type 12 MONDO:0033885 OMIM:619055 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033649 mitochondrial complex 4 deficiency, nuclear type 14 MONDO:0033885 OMIM:619058 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033650 mitochondrial complex 4 deficiency, nuclear type 15 MONDO:0033885 OMIM:619059 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033651 mitochondrial complex 4 deficiency, nuclear type 16 MONDO:0033885 OMIM:619060 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033652 mitochondrial complex 4 deficiency, nuclear type 17 MONDO:0033885 OMIM:619061 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033653 mitochondrial complex 4 deficiency, nuclear type 18 MONDO:0033885 OMIM:619062 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033654 mitochondrial complex 4 deficiency, nuclear type 19 MONDO:0033885 OMIM:619063 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033655 mitochondrial complex 4 deficiency, nuclear type 20 MONDO:0033885 OMIM:619064 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033656 mitochondrial complex 4 deficiency, nuclear type 21 MONDO:0033885 OMIM:619065 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0033657 leukodystrophy, hypomyelinating, 20 MONDO:0019046 OMIM:619071 OMIMPS:312080 leukodystrophy MONDO:0033665 hearing loss, autosomal dominant 78 MONDO:0019587 OMIM:619081 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0033668 hearing loss, autosomal dominant 79 MONDO:0019587 OMIM:619086 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0033669 Noonan syndrome 13 MONDO:0018997 OMIM:619087 OMIMPS:163950 Noonan syndrome MONDO:0033670 hearing loss, autosomal recessive 116 MONDO:0019588 OMIM:619093 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0033671 spermatogenic failure 45 MONDO:0004983 OMIM:619094 OMIMPS:258150 spermatogenic failure MONDO:0033673 spermatogenic failure 46 MONDO:0004983 OMIM:619095 OMIMPS:258150 spermatogenic failure MONDO:0033946 hereditary angioedema with C1Inh deficiency MONDO:0019623 OMIM:106100 OMIMPS:106100 hereditary angioedema MONDO:0034022 Bethlem myopathy 2 MONDO:0008029 OMIM:616471 OMIMPS:158810 Bethlem myopathy MONDO:0034022 Bethlem myopathy 2 MONDO:0020066 OMIM:616471 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency MONDO:0016537 OMIM:618261 OMIMPS:308240 lymphoproliferative syndrome MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0100062 OMIM:618379 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers MONDO:0019952 OMIM:618414 OMIMPS:117000 congenital myopathy MONDO:0034121 NAD(P)HX dehydratase deficiency MONDO:0014960 OMIM:618321 OMIMPS:617186 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy MONDO:0036482 retinitis pigmentosa 81 MONDO:0019200 OMIM:617871 OMIMPS:268000 retinitis pigmentosa MONDO:0036483 short-rib thoracic dysplasia 18 with polydactyly MONDO:0018770 OMIM:617866 OMIMPS:208500 Jeune syndrome MONDO:0040500 glycosylphosphatidylinositol biosynthesis defect 16 MONDO:0019502 OMIM:617816 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0040501 ehlers-danlos syndrome, arthrochalasia type, 2 MONDO:0020066 OMIM:617821 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0040502 glucocorticoid deficiency 5 MONDO:0008733 OMIM:617825 OMIMPS:202200 familial glucocorticoid deficiency MONDO:0040503 blepharocheilodontic syndrome 2 MONDO:0007339 OMIM:617681 OMIMPS:119580 blepharocheilodontic syndrome MONDO:0042486 polyposis syndrome, hereditary mixed, 1 MONDO:0011023 OMIM:601228 OMIMPS:601228 hereditary mixed polyposis syndrome MONDO:0042499 benign familial neonatal-infantile seizures 1 MONDO:0017615 OMIM:601764 OMIMPS:601764 benign familial infantile epilepsy MONDO:0044204 Shwachman-Diamond syndrome 1 MONDO:0009833 OMIM:260400 OMIMPS:260400 Shwachman-Diamond syndrome MONDO:0044205 Shwachman-Diamond syndrome 2 MONDO:0009833 OMIM:617941 OMIMPS:260400 Shwachman-Diamond syndrome MONDO:0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive MONDO:0008975 OMIM:215150 OMIMPS:184840 otospondylomegaepiphyseal dysplasia MONDO:0044207 specific granule deficiency 1 MONDO:0009506 OMIM:245480 OMIMPS:245480 specific granule deficiency MONDO:0044208 specific granule deficiency 2 MONDO:0009506 OMIM:617475 OMIMPS:245480 specific granule deficiency MONDO:0044299 myasthenic syndrome, congenital, 22 MONDO:0018940 OMIM:616224 OMIMPS:601462 congenital myasthenic syndrome MONDO:0044300 familial adenomatous polyposis 4 MONDO:0021055 OMIM:617100 OMIMPS:175100 classic familial adenomatous polyposis MONDO:0044305 ectodermal dysplasia 13, hair/tooth type MONDO:0019287 OMIM:617392 OMIMPS:305100 ectodermal dysplasia syndrome MONDO:0044308 bardet-biedl syndrome 21 MONDO:0015229 OMIM:617406 OMIMPS:209900 Bardet-Biedl syndrome MONDO:0044309 Diamond-Blackfan anemia 16 MONDO:0015253 OMIM:617408 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0044310 Diamond-Blackfan anemia 17 MONDO:0015253 OMIM:617409 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0044313 intellectual disability, autosomal recessive 60 MONDO:0019502 OMIM:617432 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0044314 retinitis pigmentosa 78 MONDO:0019200 OMIM:617433 OMIMPS:268000 retinitis pigmentosa MONDO:0044317 premature ovarian failure 13 MONDO:0019852 OMIM:617442 OMIMPS:311360 inherited primary ovarian failure MONDO:0044320 retinitis pigmentosa 79 MONDO:0019200 OMIM:617460 OMIMPS:268000 retinitis pigmentosa MONDO:0044325 Fanconi anemia, complementation group W MONDO:0019391 OMIM:617784 OMIMPS:227650 Fanconi anemia MONDO:0044327 polycystic liver disease 4 with or without kidney cysts MONDO:0000447 OMIM:617875 OMIMPS:174050 autosomal dominant polycystic liver disease MONDO:0044328 short-rib thoracic dysplasia 20 with polydactyly MONDO:0018770 OMIM:617925 OMIMPS:208500 Jeune syndrome MONDO:0044330 hyperekplexia 4 MONDO:0021022 OMIM:618011 OMIMPS:149400 hereditary hyperekplexia MONDO:0044702 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0020768 OMIM:301018 OMIMPS:304500 X-linked deafness MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0017359 OMIM:617248 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0017359 OMIM:617698 OMIMPS:250950 3-methylglutaconic aciduria MONDO:0044776 premature ovarian failure 10 MONDO:0019852 OMIM:612885 OMIMPS:311360 inherited primary ovarian failure MONDO:0044777 premature ovarian failure 14 MONDO:0019852 OMIM:618014 OMIMPS:311360 inherited primary ovarian failure MONDO:0049221 myopia 26, X-linked, female-limited MONDO:0001384 OMIM:301010 OMIMPS:160700 myopia MONDO:0049222 intellectual disability, X-linked 107 MONDO:0019181 OMIM:301013 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0054550 avascular necrosis of femoral head, primary, 1 MONDO:0012126 OMIM:608805 OMIMPS:608805 familial avascular necrosis of femoral head MONDO:0054551 avascular necrosis of femoral head, primary, 2 MONDO:0012126 OMIM:617383 OMIMPS:608805 familial avascular necrosis of femoral head MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0005501 OMIM:617395 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0054560 anauxetic dysplasia 1 MONDO:0011773 OMIM:607095 OMIMPS:607095 anauxetic dysplasia MONDO:0054561 anauxetic dysplasia 2 MONDO:0011773 OMIM:617396 OMIMPS:607095 anauxetic dysplasia MONDO:0054565 short-rib thoracic dysplasia 17 with or without polydactyly MONDO:0018770 OMIM:617405 OMIMPS:208500 Jeune syndrome MONDO:0054577 bleeding disorder, platelet-type, 21 MONDO:0000009 OMIM:617443 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0054581 Townes-Brocks syndrome 1 MONDO:0007142 OMIM:107480 OMIMPS:107480 Townes-Brocks syndrome MONDO:0054582 Townes-Brocks syndrome 2 MONDO:0007142 OMIM:617466 OMIMPS:107480 Townes-Brocks syndrome MONDO:0054588 Noonan syndrome-like disorder with loose anagen hair 2 MONDO:0011899 OMIM:617506 OMIMPS:607721 Noonan syndrome-like disorder with loose anagen hair MONDO:0054601 pituitary adenoma 5, multiple types MONDO:0017824 OMIM:617540 OMIMPS:102200 familial isolated pituitary adenoma MONDO:0054602 gaze palsy, familial horizontal, with progressive scoliosis, 2 MONDO:0011810 OMIM:617542 OMIMPS:607313 horizontal gaze palsy with progressive scoliosis MONDO:0054615 spermatogenic failure 18 MONDO:0004983 OMIM:617576 OMIMPS:258150 spermatogenic failure MONDO:0054637 Noonan syndrome-like disorder with loose anagen hair 1 MONDO:0011899 OMIM:607721 OMIMPS:607721 Noonan syndrome-like disorder with loose anagen hair MONDO:0054654 combined oxidative phosphorylation deficiency 32 MONDO:0000732 OMIM:617664 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0054665 pituitary adenoma 3, multiple types MONDO:0017824 OMIM:617686 OMIMPS:102200 familial isolated pituitary adenoma MONDO:0054666 ovarian dysgenesis 5 MONDO:0009299 OMIM:617690 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:0020135 OMIM:617695 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0054677 combined oxidative phosphorylation deficiency 33 MONDO:0000732 OMIM:617713 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0054680 epiphyseal dysplasia, multiple, 7 MONDO:0016648 OMIM:617719 OMIMPS:132400 multiple epiphyseal dysplasia MONDO:0054691 immunodeficiency, common variable, 14 MONDO:0015517 OMIM:617765 OMIMPS:607594 common variable immunodeficiency MONDO:0054695 myopathy, centronuclear, 6, with fiber-type disproportion MONDO:0018947 OMIM:617760 OMIMPS:160150 centronuclear myopathy MONDO:0054696 immunodeficiency 53 MONDO:0021094 OMIM:617585 OMIMPS:300755 immunodeficiency disease MONDO:0054697 immunodeficiency 11b with atopic dermatitis MONDO:0021094 OMIM:617638 OMIMPS:300755 immunodeficiency disease MONDO:0054698 proteasome-associated autoinflammatory syndrome 1 MONDO:0009726 OMIM:256040 OMIMPS:256040 proteosome-associated autoinflammatory syndrome MONDO:0054699 proteasome-associated autoinflammatory syndrome 3 MONDO:0009726 OMIM:617591 OMIMPS:256040 proteosome-associated autoinflammatory syndrome MONDO:0054700 proteasome-associated autoinflammatory syndrome 2 MONDO:0009726 OMIM:618048 OMIMPS:256040 proteosome-associated autoinflammatory syndrome MONDO:0054701 Kleefstra syndrome 2 MONDO:0012455 OMIM:617768 OMIMPS:610253 Kleefstra syndrome MONDO:0054708 retinitis pigmentosa 80 MONDO:0019200 OMIM:617781 OMIMPS:268000 retinitis pigmentosa MONDO:0054716 microcephaly 19, primary, autosomal recessive MONDO:0016660 OMIM:617800 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0054722 geleophysic dysplasia 3 MONDO:0000127 OMIM:617809 OMIMPS:231050 geleophysic dysplasia MONDO:0054723 spermatogenic failure 19 MONDO:0004983 OMIM:617592 OMIMPS:258150 spermatogenic failure MONDO:0054724 spermatogenic failure 20 MONDO:0004983 OMIM:617593 OMIMPS:258150 spermatogenic failure MONDO:0054725 spermatogenic failure 21 MONDO:0004983 OMIM:617644 OMIMPS:258150 spermatogenic failure MONDO:0054726 spermatogenic failure 22 MONDO:0004983 OMIM:617706 OMIMPS:258150 spermatogenic failure MONDO:0054727 spermatogenic failure 23 MONDO:0004983 OMIM:617707 OMIMPS:258150 spermatogenic failure MONDO:0054728 spermatogenic failure 24 MONDO:0004983 OMIM:617959 OMIMPS:258150 spermatogenic failure MONDO:0054729 spermatogenic failure 25 MONDO:0004983 OMIM:617960 OMIMPS:258150 spermatogenic failure MONDO:0054730 spermatogenic failure 26 MONDO:0004983 OMIM:617961 OMIMPS:258150 spermatogenic failure MONDO:0054731 spermatogenic failure 27 MONDO:0004983 OMIM:617965 OMIMPS:258150 spermatogenic failure MONDO:0054732 spermatogenic failure 28 MONDO:0004983 OMIM:618086 OMIMPS:258150 spermatogenic failure MONDO:0054733 spermatogenic failure 29 MONDO:0004983 OMIM:618091 OMIMPS:258150 spermatogenic failure MONDO:0054736 mosaic variegated aneuploidy syndrome 3 MONDO:0000141 OMIM:617598 OMIMPS:257300 mosaic variegated aneuploidy syndrome MONDO:0054737 Fraser syndrome 1 MONDO:0009046 OMIM:219000 OMIMPS:219000 Fraser syndrome MONDO:0054738 Fraser syndrome 2 MONDO:0009046 OMIM:617666 OMIMPS:219000 Fraser syndrome MONDO:0054739 Fraser syndrome 3 MONDO:0009046 OMIM:617667 OMIMPS:219000 Fraser syndrome MONDO:0054740 blepharocheilodontic syndrome 1 MONDO:0007339 OMIM:119580 OMIMPS:119580 blepharocheilodontic syndrome MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0000732 OMIM:617872 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0000732 OMIM:617873 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0054743 polycystic liver disease 3 with or without kidney cysts MONDO:0000447 OMIM:617874 OMIMPS:174050 autosomal dominant polycystic liver disease MONDO:0054748 Fanconi anemia, complementation group S MONDO:0019391 OMIM:617883 OMIMPS:227650 Fanconi anemia MONDO:0054752 multiple synostoses syndrome 4 MONDO:0017923 OMIM:617898 OMIMPS:186500 multiple synostoses syndrome MONDO:0054761 microcephaly 20, primary, autosomal recessive MONDO:0016660 OMIM:617914 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0054763 neurodegeneration with brain iron accumulation 7 MONDO:0018307 OMIM:617916 OMIMPS:234200 neurodegeneration with brain iron accumulation MONDO:0054764 neurodegeneration with brain iron accumulation 8 MONDO:0018307 OMIM:617917 OMIMPS:234200 neurodegeneration with brain iron accumulation MONDO:0054765 amyloidosis, primary localized cutaneous, 3 MONDO:0007101 OMIM:617920 OMIMPS:105250 familial primary localized cutaneous amyloidosis MONDO:0054770 orofaciodigital syndrome 18 MONDO:0015375 OMIM:617927 OMIMPS:311200 orofaciodigital syndrome MONDO:0054771 keratoconus 9 MONDO:0015486 OMIM:617928 OMIMPS:148300 keratoconus MONDO:0054776 epilepsy, familial focal, with variable foci 4 MONDO:0020310 OMIM:617935 OMIMPS:604364 familial focal epilepsy with variable foci MONDO:0054781 combined oxidative phosphorylation deficiency 36 MONDO:0000732 OMIM:617950 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0054782 leukodystrophy, hypomyelinating, 15 MONDO:0019046 OMIM:617951 OMIMPS:312080 leukodystrophy MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0017338 OMIM:617954 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0054791 leukodystrophy, hypomyelinating, 16 MONDO:0019046 OMIM:617964 OMIMPS:312080 leukodystrophy MONDO:0054794 hydrocephalus, congenital, 3, with brain anomalies MONDO:0016349 OMIM:617967 OMIMPS:236600 congenital hydrocephalus MONDO:0054801 erythrocytosis, familial, 6 MONDO:0001115 OMIM:617980 OMIMPS:133100 familial polycythemia MONDO:0054802 erythrocytosis, familial, 7 MONDO:0001115 OMIM:617981 OMIMPS:133100 familial polycythemia MONDO:0054804 microcephaly 21, primary, autosomal recessive MONDO:0016660 OMIM:617983 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0054805 microcephaly 22, primary, autosomal recessive MONDO:0016660 OMIM:617984 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0054806 microcephaly 23, primary, autosomal recessive MONDO:0016660 OMIM:617985 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 MONDO:0020066 OMIM:618000 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0054817 leukodystrophy, hypomyelinating, 17 MONDO:0019046 OMIM:618006 OMIMPS:312080 leukodystrophy MONDO:0054831 Coffin-Siris syndrome 7 MONDO:0015452 OMIM:618027 OMIMPS:135900 Coffin-Siris syndrome MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 MONDO:0020364 OMIM:618031 OMIMPS:122000 posterior polymorphous corneal dystrophy MONDO:0054835 classic dopamine transporter deficiency syndrome MONDO:0013150 OMIM:613135 OMIMPS:613135 parkinsonism-dystonia, infantile MONDO:0054838 cardiomyopathy, familial hypertrophic 27 MONDO:0024573 OMIM:618052 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0054843 ciliary dyskinesia, primary, 38 MONDO:0016575 OMIM:618063 OMIMPS:244400 primary ciliary dyskinesia MONDO:0054844 pontocerebellar hypoplasia, type 1D MONDO:0020135 OMIM:618065 OMIMPS:607596 pontocerebellar hypoplasia MONDO:0054845 developmental and epileptic encephalopathy, 66 MONDO:0100062 OMIM:618067 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0054846 epilepsy, familial adult myoclonic, 6 MONDO:0000160 OMIM:618074 OMIMPS:601068 epilepsy, familial adult myoclonic MONDO:0054847 epilepsy, familial adult myoclonic, 7 MONDO:0000160 OMIM:618075 OMIMPS:601068 epilepsy, familial adult myoclonic MONDO:0054849 inflammatory bowel disease 29 MONDO:0005265 OMIM:618077 OMIMPS:266600 inflammatory bowel disease MONDO:0054850 ovarian dysgenesis 6 MONDO:0009299 OMIM:618078 OMIMPS:233300 46 XX gonadal dysgenesis MONDO:0054852 peeling skin syndrome 6 MONDO:0019347 OMIM:618084 OMIMPS:270300 peeling skin syndrome MONDO:0054860 hearing loss, autosomal recessive 110 MONDO:0019588 OMIM:618094 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0054861 intellectual disability, autosomal recessive 63 MONDO:0019502 OMIM:618095 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0054862 premature ovarian failure 15 MONDO:0019852 OMIM:618096 OMIMPS:311360 inherited primary ovarian failure MONDO:0056795 X-linked spermatogenic failure 1 MONDO:0004983 OMIM:305700 OMIMPS:258150 spermatogenic failure MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MONDO:0015168 OMIM:617468 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0020831 OMIM:617660 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0020831 OMIM:617661 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0060585 neuronopathy, distal hereditary motor, type 9 MONDO:0015362 OMIM:617721 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0060732 tetraamelia syndrome 2 MONDO:0010110 OMIM:618021 OMIMPS:273395 tetraamelia-multiple malformations syndrome MONDO:0060764 tetraamelia syndrome 1 MONDO:0010110 OMIM:273395 OMIMPS:273395 tetraamelia-multiple malformations syndrome MONDO:0100045 epidermodysplasia verruciformis, susceptibility to, 1 MONDO:0100043 OMIM:226400 OMIMPS:226400 epidermodysplasia verruciformis, susceptibility to MONDO:0100079 developmental and epileptic encephalopathy, 6 MONDO:0100062 OMIM:607208 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0100082 LEOPARD syndrome 1 MONDO:0007893 OMIM:151100 OMIMPS:151100 Noonan syndrome with multiple lentigines MONDO:0100092 myoclonus, familial, 2 MONDO:0013981 OMIM:618364 OMIMPS:614937 myoclonus, familial MONDO:0100093 myoclonus, familial, 1 MONDO:0013981 OMIM:614937 OMIMPS:614937 myoclonus, familial MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0008824 OMIM:208150 OMIMPS:208150 fetal akinesia deformation sequence MONDO:0100102 fetal akinesia deformation sequence 2 MONDO:0008824 OMIM:618388 OMIMPS:208150 fetal akinesia deformation sequence MONDO:0100103 fetal akinesia deformation sequence 3 MONDO:0008824 OMIM:618389 OMIMPS:208150 fetal akinesia deformation sequence MONDO:0100104 fetal akinesia deformation sequence 4 MONDO:0008824 OMIM:618393 OMIMPS:208150 fetal akinesia deformation sequence MONDO:0100105 brain small vessel disease 3 MONDO:0020496 OMIM:618360 OMIMPS:175780 familial porencephaly MONDO:0100119 Knobloch syndrome 2 MONDO:0800166 OMIM:618458 OMIMPS:267750 Knobloch syndrome MONDO:0100156 Imerslund-Grasbeck syndrome type 1 MONDO:0009853 OMIM:261100 OMIMPS:261100 Imerslund-Grasbeck syndrome MONDO:0100157 Imerslund-Grasbeck syndrome type 2 MONDO:0009853 OMIM:618882 OMIMPS:261100 Imerslund-Grasbeck syndrome MONDO:0100165 permanent neonatal diabetes mellitus 1 MONDO:0100164 OMIM:606176 OMIMPS:606176 permanent neonatal diabetes mellitus MONDO:0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive MONDO:0100210 OMIM:245590 OMIMPS:245590 growth hormone insensitivity syndrome with immune dysregulation MONDO:0100213 IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100212 OMIM:308205 OMIMPS:308205 IFAP syndrome MONDO:0100215 Rajab interstitial lung disease with brain calcifications 1 MONDO:0100214 OMIM:613658 OMIMPS:613658 Rajab interstitial lung disease with brain calcifications MONDO:0100217 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 MONDO:0031632 OMIM:620062 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0100218 arthrogryposis multiplex congenita 5 MONDO:0015168 OMIM:618947 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant MONDO:0100210 OMIM:618985 OMIMPS:245590 growth hormone insensitivity syndrome with immune dysregulation MONDO:0100220 Rajab interstitial lung disease with brain calcifications 2 MONDO:0100214 OMIM:619013 OMIMPS:613658 Rajab interstitial lung disease with brain calcifications MONDO:0100221 IFAP syndrome 2 MONDO:0100212 OMIM:619016 OMIMPS:308205 IFAP syndrome MONDO:0100224 mitochondrial complex I deficiency, nuclear type 1 MONDO:0100223 OMIM:252010 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0100281 macroglobulinemia, Waldenstrom, 1 MONDO:0100280 OMIM:153600 OMIMPS:153600 Waldenstrom macroglobulinemia MONDO:0100292 Carey-Fineman-Ziter syndrome 2 MONDO:0031415 OMIM:619941 OMIMPS:254940 Carey-Fineman-Ziter syndrome MONDO:0100294 mitochondrial complex II deficiency, nuclear type 1 MONDO:0031230 OMIM:252011 OMIMPS:252011 mitochondrial complex II deficiency, nuclear type MONDO:0100296 Olmsted syndrome 1 MONDO:0031421 OMIM:614594 OMIMPS:614594 Olmsted syndrome MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 MONDO:0031439 OMIM:617877 OMIMPS:617877 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies MONDO:0100302 LADD syndrome 1 MONDO:0007872 OMIM:149730 OMIMPS:149730 LADD syndrome MONDO:0100303 ichthyosis, annular epidermolytic 1 MONDO:0011870 OMIM:607602 OMIMPS:607602 annular epidermolytic ichthyosis MONDO:0100316 long QT syndrome 1 MONDO:0019171 OMIM:192500 OMIMPS:192500 familial long QT syndrome MONDO:0100325 odontochondrodysplasia 1 MONDO:0031169 OMIM:184260 OMIMPS:184260 odontochondrodysplasia MONDO:0100344 Bartter disease type 1 MONDO:0015231 OMIM:601678 OMIMPS:601678 Bartter syndrome MONDO:0100352 episodic kinesigenic dyskinesia 1 MONDO:0044202 OMIM:128200 OMIMPS:128200 episodic kinesigenic dyskinesia MONDO:0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MONDO:0025986 OMIM:249210 OMIMPS:249210 megacystis-microcolon-intestinal hypoperistalsis syndrome MONDO:0100436 cataract 2, multiple types MONDO:0005129 OMIM:604307 OMIMPS:116200 cataract MONDO:0100467 preeclampsia/eclampsia 1 MONDO:0005081 OMIM:189800 OMIMPS:189800 preeclampsia MONDO:0100490 breasts and/or nipples, aplasia or hypoplasia of, 1 MONDO:0015855 OMIM:113700 OMIMPS:113700 isolated congenital breast hypoplasia/aplasia MONDO:0700090 epilepsy, familial temporal lobe, 1 MONDO:0005115 OMIM:600512 OMIMPS:600512 temporal lobe epilepsy MONDO:0700112 heterotaxy, visceral, 5, autosomal MONDO:0018677 OMIM:270100 OMIMPS:306955 visceral heterotaxy MONDO:0700249 epidermolytic hyperkeratosis 1 MONDO:0007239 OMIM:113800 OMIMPS:113800 epidermolytic ichthyosis MONDO:0700250 mitochondrial complex IV deficiency, nuclear type 1 MONDO:0033885 OMIM:220110 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0700338 autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant MONDO:0975955 OMIM:621030 OMIMPS:617099 autoinflammation, panniculitis, and dermatosis syndrome MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 OMIM:145420 OMIMPS:145420 Teebi hypertelorism syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0800031 OMIM:209880 OMIMPS:209880 central hypoventilation syndrome, congenital MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0030796 OMIM:221820 OMIMPS:221820 leukoencephalopathy, hereditary diffuse, with spheroids MONDO:0800028 dyskinesia with orofacial involvement, autosomal dominant MONDO:0031115 OMIM:606703 OMIMPS:606703 dyskinesia with orofacial involvement MONDO:0800029 interstitial lung disease 2 MONDO:0031199 OMIM:178500 OMIMPS:619611 inherited interstitial lung disease MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 MONDO:0030831 OMIM:243150 OMIMPS:243150 gastrointestinal defect and immunodeficiency syndrome MONDO:0800042 restrictive dermopathy 1 MONDO:0031213 OMIM:275210 OMIMPS:275210 restrictive dermopathy MONDO:0800043 Stüve-Wiedemann syndrome 1 MONDO:0031280 OMIM:601559 OMIMPS:601559 Stuve-Wiedemann syndrome MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0031376 OMIM:615273 OMIMPS:615273 congenital disorder of deglycosylation MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0031384 OMIM:616744 OMIMPS:616744 autoinflammatory syndrome, familial, Behcet-like MONDO:0800046 thyroid hormone metabolism, abnormal 1 MONDO:0031432 OMIM:609698 OMIMPS:609698 thyroid hormone metabolism, abnormal MONDO:0800047 macrothrombocytopenia, isolated, 1, autosomal dominant MONDO:0031447 OMIM:613112 OMIMPS:613112 macrothrombocytopenia, isolated MONDO:0800104 immunodeficiency 105 MONDO:0031520 OMIM:619924 OMIMPS:601457 familial severe combined immunodeficiency MONDO:0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant MONDO:0018037 OMIM:619752 OMIMPS:147060 hyper-IgE syndrome MONDO:0800167 Knobloch syndrome 1 MONDO:0800166 OMIM:267750 OMIMPS:267750 Knobloch syndrome MONDO:0800306 myoclonic epilepsy of Lafora 2 MONDO:0009697 OMIM:620681 OMIMPS:254780 Lafora disease MONDO:0800436 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 MONDO:0031329 OMIM:213980 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0800437 Carey-Fineman-Ziter syndrome 1 MONDO:0031415 OMIM:254940 OMIMPS:254940 Carey-Fineman-Ziter syndrome MONDO:0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 MONDO:0031632 OMIM:616901 OMIMPS:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0800444 OMIM:135150 OMIMPS:135150 Birt-Hogg-Dube syndrome MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 MONDO:0800451 OMIM:604498 OMIMPS:604498 congenital amegakaryocytic thrombocytopenia MONDO:0800455 Birt-Hogg-Dube syndrome 2 MONDO:0800444 OMIM:620459 OMIMPS:135150 Birt-Hogg-Dube syndrome MONDO:0859086 intellectual developmental disorder, X-linked 110 MONDO:0019181 OMIM:301095 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0859160 mitochondrial complex IV deficiency, nuclear type 22 MONDO:0033885 OMIM:619355 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0859168 myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy MONDO:0018943 OMIM:619424 OMIMPS:601419 myofibrillar myopathy MONDO:0859175 nephronophthisis-like nephropathy 2 MONDO:0019005 OMIM:619468 OMIMPS:256100 nephronophthisis MONDO:0859192 cerebral cavernous malformation 4 MONDO:0031037 OMIM:619538 OMIMPS:116860 famililal cerebral cavernous malformations MONDO:0859222 heterotaxy, visceral, 12, autosomal MONDO:0018677 OMIM:619702 OMIMPS:306955 visceral heterotaxy MONDO:0859228 combined oxidative phosphorylation deficiency 55 MONDO:0000732 OMIM:619743 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0859242 leukodystrophy, hypomyelinating, 24 MONDO:0019046 OMIM:619851 OMIMPS:312080 leukodystrophy MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 MONDO:0015244 OMIM:619862 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0859264 congenital myopathy 11 MONDO:0019952 OMIM:619967 OMIMPS:117000 congenital myopathy MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 MONDO:0015363 OMIM:620011 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 MONDO:0015362 OMIM:620080 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0859308 retinitis pigmentosa 95 MONDO:0019200 OMIM:620102 OMIMPS:268000 retinitis pigmentosa MONDO:0859309 spastic paraplegia 88, autosomal dominant MONDO:0019064 OMIM:620106 OMIMPS:303350 hereditary spastic paraplegia MONDO:0859310 orofaciodigital syndrome 19 MONDO:0015375 OMIM:620107 OMIMPS:311200 orofaciodigital syndrome MONDO:0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J MONDO:0015626 OMIM:620111 OMIMPS:118220 Charcot-Marie-Tooth disease MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0100062 OMIM:620115 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0859317 pseudohypoaldosteronism, type IB2, autosomal recessive MONDO:0019161 OMIM:620125 OMIMPS:177735 pseudohypoaldosteronism type 1 MONDO:0859318 pseudohypoaldosteronism, type IB3, autosomal recessive MONDO:0019161 OMIM:620126 OMIMPS:177735 pseudohypoaldosteronism type 1 MONDO:0859319 dyskeratosis congenita, autosomal recessive 8 MONDO:0015780 OMIM:620133 OMIMPS:127550 dyskeratosis congenita MONDO:0859320 mitochondrial complex I deficiency, nuclear type 39 MONDO:0100223 OMIM:620135 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type MONDO:0859321 mitochondrial complex 3 deficiency, nuclear type 11 MONDO:0020811 OMIM:620137 OMIMPS:124000 mitochondrial complex III deficiency, nuclear type MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0000732 OMIM:620139 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0100062 OMIM:620145 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0100062 OMIM:620149 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy MONDO:0018100 OMIM:620152 OMIMPS:602014 familial primary hypomagnesemia MONDO:0859329 mosaic variegated aneuploidy syndrome 4 MONDO:0000141 OMIM:620153 OMIMPS:257300 mosaic variegated aneuploidy syndrome MONDO:0859330 oocyte maturation defect 13 MONDO:0014769 OMIM:620154 OMIMPS:615774 inherited oocyte maturation defect MONDO:0859332 cortical dysplasia, complex, with other brain malformations 11 MONDO:0000904 OMIM:620156 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0859333 intellectual developmental disorder, autosomal dominant 70 MONDO:0100172 OMIM:620157 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0859334 spinocerebellar ataxia 50 MONDO:0020380 OMIM:620158 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0859335 congenital myopathy 15 MONDO:0019952 OMIM:620161 OMIMPS:117000 congenital myopathy MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 OMIM:620167 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0859338 spermatogenic failure 78 MONDO:0004983 OMIM:620170 OMIMPS:258150 spermatogenic failure MONDO:0859339 tooth agenesis, selective, 10 MONDO:0005486 OMIM:620173 OMIMPS:106600 tooth agenesis MONDO:0859340 spinocerebellar ataxia 27B, late-onset MONDO:0020380 OMIM:620174 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0859341 hypotrichosis 15 MONDO:0003037 OMIM:620177 OMIMPS:605389 hypotrichosis MONDO:0859342 microcephaly 30, primary, autosomal recessive MONDO:0016660 OMIM:620183 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition MONDO:0000141 OMIM:620189 OMIMPS:257300 mosaic variegated aneuploidy syndrome MONDO:0859352 spermatogenic failure 79 MONDO:0004983 OMIM:620196 OMIMPS:258150 spermatogenic failure MONDO:0859353 ciliary dyskinesia, primary, 49, without situs inversus MONDO:0016575 OMIM:620197 OMIMPS:244400 primary ciliary dyskinesia MONDO:0859354 thyroid hormone metabolism, abnormal, 3 MONDO:0031432 OMIM:620198 OMIMPS:609698 thyroid hormone metabolism, abnormal MONDO:0859356 congenital disorder of glycosylation, type IIy MONDO:0005501 OMIM:620200 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0859357 congenital disorder of glycosylation, type IIz MONDO:0005501 OMIM:620201 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 OMIM:620208 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 OMIM:620211 OMIMPS:256450 hyperinsulinemic hypoglycemia MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 OMIM:620221 OMIMPS:303350 hereditary spastic paraplegia MONDO:0859364 spermatogenic failure 80 MONDO:0004983 OMIM:620222 OMIMPS:258150 spermatogenic failure MONDO:0859366 hearing loss, autosomal dominant 85 MONDO:0019587 OMIM:620227 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0859367 retinitis pigmentosa 96 MONDO:0019200 OMIM:620228 OMIMPS:268000 retinitis pigmentosa MONDO:0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MONDO:0024573 OMIM:620236 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0859373 intellectual developmental disorder, autosomal recessive 78 MONDO:0019502 OMIM:620237 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0859374 hearing loss, autosomal recessive 120 MONDO:0019588 OMIM:620238 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0019046 OMIM:620243 OMIMPS:312080 leukodystrophy MONDO:0859379 lymphatic malformation 13 MONDO:0019313 OMIM:620244 OMIMPS:153100 lymphatic malformation MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0044202 OMIM:620245 OMIMPS:128200 episodic kinesigenic dyskinesia MONDO:0859381 cardiomyopathy, dilated, 100 MONDO:0016333 OMIM:620247 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0859382 cataract 50 with or without glaucoma MONDO:0005129 OMIM:620253 OMIMPS:116200 cataract MONDO:0859477 spermatogenic failure, X-linked, 5 MONDO:0004983 OMIM:301099 OMIMPS:258150 spermatogenic failure MONDO:0859478 spermatogenic failure, X-linked, 6 MONDO:0004983 OMIM:301101 OMIMPS:258150 spermatogenic failure MONDO:0859514 congenital myopathy 18 MONDO:0019952 OMIM:620246 OMIMPS:117000 congenital myopathy MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0019952 OMIM:620249 OMIMPS:117000 congenital myopathy MONDO:0859517 congenital myopathy 2b, severe infantile, autosomal recessive MONDO:0019952 OMIM:620265 OMIMPS:117000 congenital myopathy MONDO:0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia MONDO:0019046 OMIM:620269 OMIMPS:312080 leukodystrophy MONDO:0859520 mitochondrial complex IV deficiency, nuclear type 23 MONDO:0033885 OMIM:620275 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type MONDO:0859521 oocyte maturation defect 14 MONDO:0014769 OMIM:620276 OMIMPS:615774 inherited oocyte maturation defect MONDO:0859522 spermatogenic failure 81 MONDO:0004983 OMIM:620277 OMIMPS:258150 spermatogenic failure MONDO:0859523 congenital myopathy 2c, severe infantile, autosomal dominant MONDO:0019952 OMIM:620278 OMIMPS:117000 congenital myopathy MONDO:0859524 hearing loss, autosomal dominant 86 MONDO:0019587 OMIM:620280 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0859525 hearing loss, autosomal dominant 87 MONDO:0019587 OMIM:620281 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0859526 immunodeficiency 109 with lymphoproliferation MONDO:0021094 OMIM:620282 OMIMPS:300755 immunodeficiency disease MONDO:0859527 hearing loss, autosomal dominant 88 MONDO:0019587 OMIM:620283 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0859528 hearing loss, autosomal dominant 89 MONDO:0019587 OMIM:620284 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0859529 amyotrophic lateral sclerosis 27, juvenile MONDO:0005144 OMIM:620285 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0859564 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features MONDO:0859390 OMIM:301091 OMIMPS:300491 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features MONDO:0859565 atrioventricular septal defect MONDO:0020290 OMIM:606215 OMIMPS:606215 familial atrioventricular septal defect MONDO:0859567 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 MONDO:0031329 OMIM:616994 OMIMPS:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome MONDO:0859568 macular dystrophy, retinal, 4 MONDO:0031166 OMIM:619977 OMIMPS:136550 macular dystrophy, retinal MONDO:0859569 Braddock-Carey syndrome 1 MONDO:0031646 OMIM:619980 OMIMPS:619980 Braddock-Carey syndrome MONDO:0859570 braddock-carey syndrome 2 MONDO:0031646 OMIM:619981 OMIMPS:619980 Braddock-Carey syndrome MONDO:0859571 diaphragmatic hernia 4, with cardiovascular defects MONDO:0005711 OMIM:620025 OMIMPS:142340 congenital diaphragmatic hernia MONDO:0859572 cardiac valvular dysplasia 2 MONDO:0031323 OMIM:620067 OMIMPS:212093 cardiac valvular defect MONDO:0859573 bent bone dysplasia syndrome 2 MONDO:0031615 OMIM:620076 OMIMPS:614592 familial bent bone dysplasia syndrome MONDO:0859574 ichthyosis, annular epidermolytic, 2 MONDO:0011870 OMIM:620148 OMIMPS:607602 annular epidermolytic ichthyosis MONDO:0859575 Atelis syndrome 1 MONDO:0000141 OMIM:620184 OMIMPS:257300 mosaic variegated aneuploidy syndrome MONDO:0859575 Atelis syndrome 1 MONDO:0859393 OMIM:620184 OMIMPS:620184 Atelis syndrome MONDO:0859576 Atelis syndrome 2 MONDO:0000141 OMIM:620185 OMIMPS:257300 mosaic variegated aneuploidy syndrome MONDO:0859576 Atelis syndrome 2 MONDO:0859393 OMIM:620185 OMIMPS:620184 Atelis syndrome MONDO:0859577 lacrimoauriculodentodigital syndrome 2 MONDO:0007872 OMIM:620192 OMIMPS:149730 LADD syndrome MONDO:0859578 lacrimoauriculodentodigital syndrome 3 MONDO:0007872 OMIM:620193 OMIMPS:149730 LADD syndrome MONDO:0957202 spermatogenic failure, X-linked, 7 MONDO:0004983 OMIM:301106 OMIMPS:258150 spermatogenic failure MONDO:0957203 intellectual developmental disorder, X-linked 111 MONDO:0019181 OMIM:301107 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0957208 pituitary hormone deficiency, combined or isolated, 8 MONDO:0013099 OMIM:620303 OMIMPS:613038 combined pituitary hormone deficiencies, genetic form MONDO:0957215 congenital myopathy 20 MONDO:0019952 OMIM:620310 OMIMPS:117000 congenital myopathy MONDO:0957216 premature ovarian failure 21 MONDO:0019852 OMIM:620311 OMIMPS:311360 inherited primary ovarian failure MONDO:0957217 cortical dysplasia, complex, with other brain malformations 12 MONDO:0000904 OMIM:620316 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0957220 oocyte/zygote/embryo maturation arrest 17 MONDO:0014769 OMIM:620319 OMIMPS:615774 inherited oocyte maturation defect MONDO:0957221 spastic paraplegia 70, autosomal recessive MONDO:0019064 OMIM:620323 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957224 congenital myopathy 21 with early respiratory failure MONDO:0019952 OMIM:620326 OMIMPS:117000 congenital myopathy MONDO:0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities MONDO:0100172 OMIM:620330 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0957229 hatipoglu immunodeficiency syndrome MONDO:0021094 OMIM:620331 OMIMPS:300755 immunodeficiency disease MONDO:0957230 oocyte/zygote/embryo maturation arrest 18 MONDO:0014769 OMIM:620332 OMIMPS:615774 inherited oocyte maturation defect MONDO:0957231 oocyte/zygote/embryo maturation arrest 19 MONDO:0014769 OMIM:620333 OMIMPS:615774 inherited oocyte maturation defect MONDO:0957240 cone-rod dystrophy 24 MONDO:0015993 OMIM:620342 OMIMPS:120970 cone-rod dystrophy MONDO:0957247 congenital myopathy 22A, classic MONDO:0019952 OMIM:620351 OMIMPS:117000 congenital myopathy MONDO:0957249 spermatogenic failure 82 MONDO:0004983 OMIM:620353 OMIMPS:258150 spermatogenic failure MONDO:0957250 spermatogenic failure 83 MONDO:0004983 OMIM:620354 OMIMPS:258150 spermatogenic failure MONDO:0957252 ciliary dyskinesia, primary, 50 MONDO:0016575 OMIM:620356 OMIMPS:244400 primary ciliary dyskinesia MONDO:0957253 diarrhea 13 MONDO:0000824 OMIM:620357 OMIMPS:214700 congenital diarrhea MONDO:0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MONDO:0014471 OMIM:620358 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0957255 mitochondrial complex V (ATP synthase) deficiency, nuclear type 7 MONDO:0014471 OMIM:620359 OMIMPS:604273 mitochondrial proton-transporting ATP synthase complex deficiency MONDO:0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 MONDO:0000148 OMIM:620365 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0957262 osteopetrosis, autosomal recessive 9 MONDO:0019026 OMIM:620366 OMIMPS:259700 autosomal recessive osteopetrosis MONDO:0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 MONDO:0000148 OMIM:620367 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0957264 cerebroretinal microangiopathy with calcifications and cysts 3 MONDO:0012815 OMIM:620368 OMIMPS:612199 Coats plus syndrome MONDO:0957265 congenital myopathy 22B, severe fetal MONDO:0019952 OMIM:620369 OMIMPS:117000 congenital myopathy MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 MONDO:0015152 OMIM:620375 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0957274 spastic paraplegia 89, autosomal recessive MONDO:0019064 OMIM:620379 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957278 oocyte/zygote/embryo maturation arrest 20 MONDO:0014769 OMIM:620383 OMIMPS:615774 inherited oocyte maturation defect MONDO:0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset MONDO:0018958 OMIM:620386 OMIMPS:161800 nemaline myopathy MONDO:0957284 nemaline myopathy 5C, autosomal dominant MONDO:0018958 OMIM:620389 OMIMPS:161800 nemaline myopathy MONDO:0957288 intellectual developmental disorder, autosomal recessive 79 MONDO:0019502 OMIM:620393 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 MONDO:0000148 OMIM:620400 OMIMPS:614742 pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0957301 spermatogenic failure 84 MONDO:0004983 OMIM:620409 OMIMPS:258150 spermatogenic failure MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0968949 OMIM:620411 OMIMPS:144200 palmoplantar keratoderma, epidermolytic MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 OMIM:620416 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 OMIM:620417 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957314 retinitis pigmentosa 97 MONDO:0019200 OMIM:620422 OMIMPS:268000 retinitis pigmentosa MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 MONDO:0017338 OMIM:620423 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0957385 dystonia 37, early-onset, with striatal lesions MONDO:0044807 OMIM:620427 OMIMPS:128100 inherited dystonia MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 MONDO:0000213 OMIM:620430 OMIMPS:615952 autoimmune disease, multisystem, infantile-onset MONDO:0957396 ciliary dyskinesia, primary, 51 MONDO:0016575 OMIM:620438 OMIMPS:244400 primary ciliary dyskinesia MONDO:0957397 intellectual developmental disorder, autosomal dominant 72 MONDO:0100172 OMIM:620439 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature MONDO:0957097 OMIM:301110 OMIMPS:235400 hereditary hemolytic uremic syndrome MONDO:0957496 intellectual developmental disorder, X-linked 112 MONDO:0019181 OMIM:301111 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0957530 breast-ovarian cancer, familial, susceptibility to, 5 MONDO:0100526 OMIM:620442 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to MONDO:0957533 megalencephalic leukoencephalopathy with subcortical cysts 3 MONDO:0000137 OMIM:620447 OMIMPS:604004 leukoencephalopathy, megalencephalic MONDO:0957534 megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MONDO:0000137 OMIM:620448 OMIMPS:604004 leukoencephalopathy, megalencephalic MONDO:0957535 immunodeficiency 112 MONDO:0021094 OMIM:620449 OMIMPS:300755 immunodeficiency disease MONDO:0957537 combined oxidative phosphorylation deficiency 58 MONDO:0000732 OMIM:620451 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0957538 amyotrophic lateral sclerosis 28 MONDO:0005144 OMIM:620452 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0957539 dystonia 22, juvenile-onset MONDO:0044807 OMIM:620453 OMIMPS:128100 inherited dystonia MONDO:0957540 congenital disorder of glycosylation, type IIaa MONDO:0005501 OMIM:620454 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0957542 dystonia 22, adult-onset MONDO:0044807 OMIM:620456 OMIMPS:128100 inherited dystonia MONDO:0957543 auriculocondylar syndrome 4 MONDO:0000107 OMIM:620457 OMIMPS:602483 auriculocondylar syndrome MONDO:0957544 auriculocondylar syndrome 2B MONDO:0000107 OMIM:620458 OMIMPS:602483 auriculocondylar syndrome MONDO:0957545 cardiomyopathy, dilated, 2I MONDO:0016333 OMIM:620462 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0957572 thrombocytopenia 9 MONDO:0100241 OMIM:620478 OMIMPS:313900 inherited thrombocytopenia MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development MONDO:0005180 OMIM:620482 OMIMPS:168600 Parkinson disease MONDO:0957578 thrombocytopenia 10 MONDO:0100241 OMIM:620484 OMIMPS:313900 inherited thrombocytopenia MONDO:0957580 bleeding disorder, platelet-type, 25 MONDO:0000009 OMIM:620486 OMIMPS:231200 inherited bleeding disorder, platelet-type MONDO:0957584 spermatogenic failure 85 MONDO:0004983 OMIM:620490 OMIMPS:258150 spermatogenic failure MONDO:0957593 spermatogenic failure 86 MONDO:0004983 OMIM:620499 OMIMPS:258150 spermatogenic failure MONDO:0957594 spermatogenic failure 87 MONDO:0004983 OMIM:620500 OMIMPS:258150 spermatogenic failure MONDO:0957595 Ziegler-Huang syndrome MONDO:0000159 OMIM:620501 OMIMPS:614675 bone marrow failure syndrome MONDO:0957780 developmental and epileptic encephalopathy 111 MONDO:0100062 OMIM:620504 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0957788 spastic paraplegia 18a, autosomal dominant MONDO:0019064 OMIM:620512 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957809 neutropenia, severe congenital, 10, autosomal recessive MONDO:0018542 OMIM:620534 OMIMPS:202700 severe congenital neutropenia MONDO:0957811 Alport syndrome 3b, autosomal recessive MONDO:0018965 OMIM:620536 OMIMPS:301050 Alport syndrome MONDO:0957812 developmental and epileptic encephalopathy 112 MONDO:0100062 OMIM:620537 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0957813 spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0019064 OMIM:620538 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957819 arthrogryposis, distal, type 12 MONDO:0019942 OMIM:620545 OMIMPS:108120 distal arthrogryposis MONDO:0957820 congenital disorder of glycosylation, type IIbb MONDO:0005501 OMIM:620546 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0957821 spermatogenic failure 88 MONDO:0004983 OMIM:620547 OMIMPS:258150 spermatogenic failure MONDO:0957822 premature ovarian failure 22 MONDO:0019852 OMIM:620548 OMIMPS:311360 inherited primary ovarian failure MONDO:0957824 optic atrophy 14 MONDO:0043878 OMIM:620550 OMIMPS:165500 hereditary optic atrophy MONDO:0957825 hearing loss, autosomal recessive 121 MONDO:0019588 OMIM:620551 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0957870 leukoencephalopathy with vanishing white matter 2 MONDO:0800448 OMIM:620312 OMIMPS:603896 leukoencephalopathy with vanishing white matter MONDO:0957871 leukoencephalopathy with vanishing white matter 3 MONDO:0800448 OMIM:620313 OMIMPS:603896 leukoencephalopathy with vanishing white matter MONDO:0957872 leukoencephalopathy with vanishing white matter 4 MONDO:0800448 OMIM:620314 OMIMPS:603896 leukoencephalopathy with vanishing white matter MONDO:0957873 leukoencephalopathy with vanishing white matter 5 MONDO:0800448 OMIM:620315 OMIMPS:603896 leukoencephalopathy with vanishing white matter MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 MONDO:0015363 OMIM:620402 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 MONDO:0015362 OMIM:620528 OMIMPS:182960 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 MONDO:0015363 OMIM:620542 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0957920 immunodeficiency 113 with autoimmunity and autoinflammation MONDO:0021094 OMIM:620565 OMIMPS:300755 immunodeficiency disease MONDO:0957921 Cornelia de Lange syndrome 6 MONDO:0016033 OMIM:620568 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0957922 ciliary dyskinesia, primary, 52 MONDO:0016575 OMIM:620570 OMIMPS:244400 primary ciliary dyskinesia MONDO:0957928 otosclerosis 11 MONDO:0005349 OMIM:620576 OMIMPS:166800 otosclerosis MONDO:0957935 optic atrophy 15 MONDO:0043878 OMIM:620583 OMIMPS:165500 hereditary optic atrophy MONDO:0957953 Garg-Mishra progeroid syndrome MONDO:0020732 OMIM:620601 OMIMPS:176670 progeria MONDO:0957954 lymphatic malformation 14 MONDO:0019313 OMIM:620602 OMIMPS:153100 lymphatic malformation MONDO:0957955 immunodeficiency 114, folate-responsive MONDO:0021094 OMIM:620603 OMIMPS:300755 immunodeficiency disease MONDO:0957958 spastic paraplegia 72b, autosomal recessive MONDO:0019064 OMIM:620606 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957961 oocyte/zygote/embryo maturation arrest 21 MONDO:0014769 OMIM:620610 OMIMPS:615774 inherited oocyte maturation defect MONDO:0957978 optic atrophy 16 MONDO:0043878 OMIM:620629 OMIMPS:165500 hereditary optic atrophy MONDO:0957981 immunodeficiency 115 with autoinflammation MONDO:0021094 OMIM:620632 OMIMPS:300755 immunodeficiency disease MONDO:0957984 cardiomyopathy, dilated, 2j MONDO:0016333 OMIM:620635 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0957988 osteogenesis imperfecta, type 23 MONDO:0019019 OMIM:620639 OMIMPS:166200 osteogenesis imperfecta MONDO:0957991 ciliary dyskinesia, primary, 53 MONDO:0016575 OMIM:620642 OMIMPS:244400 primary ciliary dyskinesia MONDO:0957992 combined oxidative phosphorylation deficiency 59 MONDO:0000732 OMIM:620646 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0957993 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 MONDO:0000090 OMIM:620647 OMIMPS:157640 progressive external ophthalmoplegia with mitochondrial DNA deletions MONDO:0957999 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly MONDO:0019502 OMIM:620653 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0958000 thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies MONDO:0100241 OMIM:620654 OMIMPS:313900 inherited thrombocytopenia MONDO:0958009 spastic ataxia 10, autosomal recessive MONDO:0017845 OMIM:620666 OMIMPS:108600 spastic ataxia MONDO:0958011 immunodeficiency 117 MONDO:0021094 OMIM:620668 OMIMPS:300755 immunodeficiency disease MONDO:0958012 neurodegeneration with brain iron accumulation 9 MONDO:0018307 OMIM:620669 OMIMPS:234200 neurodegeneration with brain iron accumulation MONDO:0958013 immunodeficiency, common variable, 15 MONDO:0015517 OMIM:620670 OMIMPS:607594 common variable immunodeficiency MONDO:0958017 neutropenia, severe congenital, 11, autosomal dominant MONDO:0018542 OMIM:620674 OMIMPS:202700 severe congenital neutropenia MONDO:0958018 leukodystrophy, hypomyelinating, 27 MONDO:0019046 OMIM:620675 OMIMPS:312080 leukodystrophy MONDO:0958022 lipodystrophy, familial partial, type 8 MONDO:0020088 OMIM:620679 OMIMPS:151660 familial partial lipodystrophy MONDO:0958023 lipodystrophy, congenital generalized, type 5 MONDO:0006536 OMIM:620680 OMIMPS:608594 congenital generalized lipodystrophy MONDO:0958030 immunodeficiency 118 MONDO:0021094 OMIM:301115 OMIMPS:300755 immunodeficiency disease MONDO:0958035 premature ovarian failure 23 MONDO:0019852 OMIM:620686 OMIMPS:311360 inherited primary ovarian failure MONDO:0958174 basal cell nevus syndrome 1 MONDO:0007187 OMIM:109400 OMIMPS:109400 nevoid basal cell carcinoma syndrome MONDO:0958175 craniofacial microsomia 1 MONDO:0015397 OMIM:164210 OMIMPS:164210 craniofacial microsomia MONDO:0958176 oculopharyngeal muscular dystrophy 1 MONDO:0008116 OMIM:164300 OMIMPS:164300 oculopharyngeal muscular dystrophy MONDO:0958177 chronic recurrent multifocal osteomyelitis 3 MONDO:0009813 OMIM:259680 OMIMPS:609628 chronic recurrent multifocal osteomyelitis MONDO:0958178 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 MONDO:0957400 OMIM:301108 OMIMPS:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis MONDO:0958179 glycine encephalopathy 1 MONDO:0011612 OMIM:605899 OMIMPS:605899 glycine encephalopathy MONDO:0958180 prolonged electroretinal response suppression 1 MONDO:0012033 OMIM:608415 OMIMPS:608415 bradyopsia MONDO:0958181 mitochondrial trifunctional protein deficiency 1 MONDO:0012172 OMIM:609015 OMIMPS:609015 mitochondrial trifunctional protein deficiency MONDO:0958182 C1Q deficiency 1 MONDO:0013343 OMIM:613652 OMIMPS:613652 C1Q deficiency MONDO:0958183 Leber-like hereditary optic neuropathy, autosomal recessive 1 MONDO:0030309 OMIM:619382 OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive MONDO:0958185 mitochondrial trifunctional protein deficiency 2 MONDO:0012172 OMIM:620300 OMIMPS:609015 mitochondrial trifunctional protein deficiency MONDO:0958186 hematuria, benign familial, 2 MONDO:0957317 OMIM:620320 OMIMPS:141200 hematuria, benign familial MONDO:0958187 C1Q deficiency 2 MONDO:0013343 OMIM:620321 OMIMPS:613652 C1Q deficiency MONDO:0958188 C1Q deficiency 3 MONDO:0013343 OMIM:620322 OMIMPS:613652 C1Q deficiency MONDO:0958189 basal cell nevus syndrome 2 MONDO:0007187 OMIM:620343 OMIMPS:109400 nevoid basal cell carcinoma syndrome MONDO:0958190 prolonged electroretinal response suppression 2 MONDO:0012033 OMIM:620344 OMIMPS:608415 bradyopsia MONDO:0958191 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis MONDO:0957318 OMIM:620374 OMIMPS:167030 nephrolithiasis, calcium oxalate MONDO:0958192 glycine encephalopathy 2 MONDO:0011612 OMIM:620398 OMIMPS:605899 glycine encephalopathy MONDO:0958193 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 MONDO:0957400 OMIM:620425 OMIMPS:301108 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis MONDO:0958194 craniofacial microsomia 2 MONDO:0015397 OMIM:620444 OMIMPS:164210 craniofacial microsomia MONDO:0958195 oculopharyngeal muscular dystrophy 2 MONDO:0008116 OMIM:620460 OMIMPS:164300 oculopharyngeal muscular dystrophy MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay MONDO:0957599 OMIM:620465 OMIMPS:617290 epilepsy, early-onset MONDO:0958197 Leber-like hereditary optic neuropathy, autosomal recessive 2 MONDO:0030309 OMIM:620569 OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive MONDO:0958199 myoclonic epilepsy of Lafora 1 MONDO:0009697 OMIM:254780 OMIMPS:254780 Lafora disease MONDO:0958200 intellectual developmental disorder, x-linked 113 MONDO:0019181 OMIM:301116 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0958202 moyamoya disease 7 MONDO:0016820 OMIM:620687 OMIMPS:252350 Moyamoya disease MONDO:0958203 intellectual developmental disorder, autosomal dominant 74 MONDO:0100172 OMIM:620688 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0958204 intellectual developmental disorder, autosomal recessive 81 MONDO:0019502 OMIM:620700 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0958206 spermatogenic failure 89 MONDO:0004983 OMIM:620705 OMIMPS:258150 spermatogenic failure MONDO:0958228 hearing loss, autosomal recessive 122 MONDO:0019588 OMIM:620714 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0958230 orofaciodigital syndrome 20 MONDO:0015375 OMIM:620718 OMIMPS:311200 orofaciodigital syndrome MONDO:0958232 hearing loss, autosomal dominant 90 MONDO:0019587 OMIM:620722 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0958233 Bethlem myopathy 1B MONDO:0008029 OMIM:620725 OMIMPS:158810 Bethlem myopathy MONDO:0958234 Bethlem myopathy 1C MONDO:0008029 OMIM:620726 OMIMPS:158810 Bethlem myopathy MONDO:0958235 Ullrich congenital muscular dystrophy 1B MONDO:0000355 OMIM:620727 OMIMPS:254090 Ullrich congenital muscular dystrophy MONDO:0958236 Ullrich congenital muscular dystrophy 1C MONDO:0000355 OMIM:620728 OMIMPS:254090 Ullrich congenital muscular dystrophy MONDO:0958239 microphthalmia/coloboma 11 MONDO:0000170 OMIM:620731 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0958241 cardiomyopathy, familial hypertrophic, 30, atrial MONDO:0024573 OMIM:620734 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0958242 spermatogenic failure 90 MONDO:0004983 OMIM:620744 OMIMPS:258150 spermatogenic failure MONDO:0958277 hearing loss, autosomal recessive 123 MONDO:0019588 OMIM:620745 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0958322 intellectual developmental disorder, x-linked, syndromic 37 MONDO:0020119 OMIM:301118 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0958324 generalized epilepsy with febrile seizures plus, type 12 MONDO:0018214 OMIM:620755 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0958325 thrombocytopenia 12 with or without myopathy MONDO:0100241 OMIM:620757 OMIMPS:313900 inherited thrombocytopenia MONDO:0958330 developmental and epileptic encephalopathy 113 MONDO:0100062 OMIM:620772 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0958331 developmental and epileptic encephalopathy 114 MONDO:0100062 OMIM:620774 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0958333 thrombocytopenia 13, syndromic MONDO:0100241 OMIM:620776 OMIMPS:313900 inherited thrombocytopenia MONDO:0958334 pulmonary hypertension, primary, 6 MONDO:0017148 OMIM:620777 OMIMPS:178600 heritable pulmonary arterial hypertension MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 OMIM:620779 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0968946 developmental and epileptic encephalopathy 115 MONDO:0100062 OMIM:620783 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0968977 basal ganglia calcification, idiopathic, 9, autosomal recessive MONDO:0008947 OMIM:620786 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0968980 otosclerosis 12 MONDO:0005349 OMIM:620792 OMIMPS:166800 otosclerosis MONDO:0968981 autosomal recessive nonsyndromic hearing loss 124 MONDO:0019588 OMIM:620794 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0968983 proteasome-associated autoinflammatory syndrome 6 MONDO:0009726 OMIM:620796 OMIMPS:256040 proteosome-associated autoinflammatory syndrome MONDO:0970943 spermatogenic failure, x-linked, 8 MONDO:0004983 OMIM:301119 OMIMPS:258150 spermatogenic failure MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0100062 OMIM:620806 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0970950 Rothmund-Thomson syndrome, type 4 MONDO:0010002 OMIM:620819 OMIMPS:268400 Rothmund-Thomson syndrome MONDO:0970952 spermatogenic failure 91 MONDO:0004983 OMIM:620838 OMIMPS:258150 spermatogenic failure MONDO:0970993 immunodeficiency 119 MONDO:0021094 OMIM:620825 OMIMPS:300755 immunodeficiency disease MONDO:0970994 immunodeficiency 120 MONDO:0021094 OMIM:620836 OMIMPS:300755 immunodeficiency disease MONDO:0970995 premature ovarian failure 24 MONDO:0019852 OMIM:620840 OMIMPS:311360 inherited primary ovarian failure MONDO:0970999 spermatogenic failure 92 MONDO:0004983 OMIM:620848 OMIMPS:258150 spermatogenic failure MONDO:0971000 spermatogenic failure 93 MONDO:0004983 OMIM:620849 OMIMPS:258150 spermatogenic failure MONDO:0971001 immunodeficiency 121 with autoinflammation MONDO:0021094 OMIM:620807 OMIMPS:300755 immunodeficiency disease MONDO:0971002 spermatogenic failure 94 MONDO:0004983 OMIM:620850 OMIMPS:258150 spermatogenic failure MONDO:0971004 amyloidosis, hereditary systemic 1 MONDO:0007100 OMIM:105210 OMIMPS:105210 familial amyloid neuropathy MONDO:0971005 MHC class II deficiency 1 MONDO:0008855 OMIM:209920 OMIMPS:209920 MHC class II deficiency MONDO:0971006 MHC class I deficiency 1 MONDO:0011476 OMIM:604571 OMIMPS:604571 MHC class I deficiency MONDO:0971007 neuroocular syndrome 1 MONDO:0859193 OMIM:619539 OMIMPS:619539 neuroocular syndrome MONDO:0971008 amyloidosis, hereditary systemic 3 MONDO:0007100 OMIM:620657 OMIMPS:105210 familial amyloid neuropathy MONDO:0971009 amyloidosis, hereditary systemic 5 MONDO:0007100 OMIM:620658 OMIMPS:105210 familial amyloid neuropathy MONDO:0971010 amyloidosis, hereditary systemic 6 MONDO:0007100 OMIM:620659 OMIMPS:105210 familial amyloid neuropathy MONDO:0971011 MHC class I deficiency 2 MONDO:0011476 OMIM:620813 OMIMPS:604571 MHC class I deficiency MONDO:0971012 MHC class I deficiency 3 MONDO:0011476 OMIM:620814 OMIMPS:604571 MHC class I deficiency MONDO:0971013 MHC class II deficiency 2 MONDO:0008855 OMIM:620815 OMIMPS:209920 MHC class II deficiency MONDO:0971014 MHC class II deficiency 3 MONDO:0008855 OMIM:620816 OMIMPS:209920 MHC class II deficiency MONDO:0971015 MHC class II deficiency 4 MONDO:0008855 OMIM:620817 OMIMPS:209920 MHC class II deficiency MONDO:0971016 MHC class II deficiency 5 MONDO:0008855 OMIM:620818 OMIMPS:209920 MHC class II deficiency MONDO:0971044 Ehlers-Danlos syndrome, classic-like, 3 MONDO:0020066 OMIM:620865 OMIMPS:130000 Ehlers-Danlos syndrome MONDO:0971149 spastic paraplegia 30b, autosomal recessive MONDO:0019064 OMIM:620607 OMIMPS:303350 hereditary spastic paraplegia MONDO:0971150 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity MONDO:0015363 OMIM:620854 OMIMPS:604320 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0971151 immunodeficiency 122 MONDO:0021094 OMIM:620869 OMIMPS:300755 immunodeficiency disease MONDO:0971152 hearing loss, autosomal recessive 125 MONDO:0019588 OMIM:620877 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 MONDO:0015152 OMIM:620793 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0971174 multiple mitochondrial dysfunctions syndrome 9b MONDO:0017338 OMIM:620887 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis MONDO:0021094 OMIM:620901 OMIMPS:300755 immunodeficiency disease MONDO:0975746 spastic paraplegia 92, autosomal recessive MONDO:0019064 OMIM:620911 OMIMPS:303350 hereditary spastic paraplegia MONDO:0975747 spermatogenic failure 95 MONDO:0004983 OMIM:620917 OMIMPS:258150 spermatogenic failure MONDO:0975749 immunodeficiency 125 MONDO:0021094 OMIM:620926 OMIMPS:300755 immunodeficiency disease MONDO:0975761 immunodeficiency 126, susceptibility to MONDO:0021094 OMIM:620931 OMIMPS:300755 immunodeficiency disease MONDO:0975796 spastic paraplegia 93, autosomal recessive MONDO:0019064 OMIM:620938 OMIMPS:303350 hereditary spastic paraplegia MONDO:0975798 methylmalonic aciduria and homocystinuria, cb1L type MONDO:0016826 OMIM:620940 OMIMPS:277400 methylmalonic aciduria and homocystinuria MONDO:0975800 spinocerebellar ataxia 51 MONDO:0020380 OMIM:620947 OMIMPS:164400 autosomal dominant cerebellar ataxia MONDO:0975805 foveal hypoplasia 3 MONDO:0044203 OMIM:620958 OMIMPS:136520 foveal hypoplasia MONDO:0975806 multiple mitochondrial dysfunctions syndrome 10 MONDO:0017338 OMIM:620960 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0975807 cholestasis, progressive familial intrahepatic, 13 MONDO:0015762 OMIM:620962 OMIMPS:211600 progressive familial intrahepatic cholestasis MONDO:0975808 congenital myopathy 25 MONDO:0019952 OMIM:620964 OMIMPS:117000 congenital myopathy MONDO:0975809 microphthalmia/coloboma 13 MONDO:0000170 OMIM:620968 OMIMPS:300345 microphthalmia, isolated, with coloboma MONDO:0975826 arthrogryposis multiplex congenita 7, X-linked MONDO:0015168 OMIM:301127 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0975827 orofaciodigital syndrome 21 MONDO:0015375 OMIM:301132 OMIMPS:311200 orofaciodigital syndrome MONDO:0975828 intellectual developmental disorder, X-linked 114 MONDO:0019181 OMIM:301134 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0975829 anemia, congenital dyserythropoietic, type IVb MONDO:0019403 OMIM:620969 OMIMPS:224120 congenital dyserythropoietic anemia MONDO:0975832 immunodeficiency 127 MONDO:0021094 OMIM:620977 OMIMPS:300755 immunodeficiency disease MONDO:0975833 leukodystrophy, hypomyelinating, 28 MONDO:0019046 OMIM:620978 OMIMPS:312080 leukodystrophy MONDO:0975834 immunodeficiency 128 MONDO:0021094 OMIM:620983 OMIMPS:300755 immunodeficiency disease MONDO:0975838 intellectual developmental disorder, autosomal dominant 75 MONDO:0100172 OMIM:620988 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0975839 pancreatic agenesis 3 MONDO:0009832 OMIM:620991 OMIMPS:260370 pancreatic agenesis MONDO:0975840 retinitis pigmentosa 98 MONDO:0019200 OMIM:620996 OMIMPS:268000 retinitis pigmentosa MONDO:0975841 fibromatosis, gingival, 6 MONDO:0016070 OMIM:620999 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0975842 spermatogenic failure 96 MONDO:0004983 OMIM:621001 OMIMPS:258150 spermatogenic failure MONDO:0975843 premature ovarian failure 25 MONDO:0019852 OMIM:621002 OMIMPS:311360 inherited primary ovarian failure MONDO:0975875 basal ganglia calcification, idiopathic, 10, autosomal recessive MONDO:0008947 OMIM:621018 OMIMPS:213600 bilateral striopallidodentate calcinosis MONDO:0975952 cerebral cavernous malformations 5 MONDO:0031037 OMIM:621032 OMIMPS:116860 famililal cerebral cavernous malformations MONDO:0975958 spermatogenic failure 97 MONDO:0004983 OMIM:621057 OMIMPS:258150 spermatogenic failure MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0024189 OMIM:616263 OMIMPS:616263 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset MONDO:8000013 portal hypertension, noncirrhotic, 1 MONDO:0024193 OMIM:617068 OMIMPS:617068 portal hypertension, noncirrhotic MONDO:8000015 46,XY sex reversal 11 MONDO:0010765 OMIM:273250 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0000127 geleophysic dysplasia MONDO:0019695 Orphanet:2623 Orphanet:93436 acromelic dysplasia MONDO:0000136 keratosis follicularis spinulosa decalvans MONDO:0018855 Orphanet:2340 Orphanet:498 keratosis pilaris atrophicans MONDO:0000141 mosaic variegated aneuploidy syndrome MONDO:0019040 Orphanet:1052 Orphanet:68335 chromosomal disorder MONDO:0000170 microphthalmia, isolated, with coloboma MONDO:0016764 Orphanet:98938 Orphanet:2542 isolated anophthalmia-microphthalmia syndrome MONDO:0000179 Neu-Laxova syndrome MONDO:0015148 Orphanet:2671 Orphanet:102011 lissencephaly type 3 MONDO:0000193 cortisone reductase deficiency MONDO:0015898 Orphanet:168588 Orphanet:181412 adrenogenital syndrome MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO:0015168 Orphanet:486811 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO:0024257 Orphanet:486811 Orphanet:98505 hereditary motor neuron disease MONDO:0000330 endemic typhus MONDO:0001246 Orphanet:83315 Orphanet:102023 typhus MONDO:0000456 cerebral creatine deficiency syndrome MONDO:0019243 Orphanet:79172 Orphanet:79200 inborn disorder of energy metabolism MONDO:0000476 generalized dystonia MONDO:0015494 Orphanet:376724 Orphanet:156159 isolated dystonia MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0016112 Orphanet:52430 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0000736 dyschromatosis universalis hereditaria MONDO:0019289 Orphanet:241 Orphanet:79375 hyperpigmentation of the skin MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0009637 Orphanet:2598 Orphanet:206966 inborn mitochondrial myopathy MONDO:0000863 myopathy, lactic acidosis, and sideroblastic anemia MONDO:0020099 Orphanet:2598 Orphanet:98362 inherited sideroblastic anemia MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO:0016106 Orphanet:269 Orphanet:206644 progressive muscular dystrophy MONDO:0001569 acoustic neuroma MONDO:0002546 Orphanet:252175 Orphanet:252164 schwannoma MONDO:0001586 mucopolysaccharidosis type 1 MONDO:0019249 Orphanet:579 Orphanet:79213 mucopolysaccharidosis MONDO:0001676 erythropoietic protoporphyria MONDO:0019142 Orphanet:659681 Orphanet:738 inherited porphyria MONDO:0001713 inherited aplastic anemia MONDO:0015909 Orphanet:68383 Orphanet:182040 aplastic anemia MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0018078 Orphanet:2023 Orphanet:3394 soft tissue sarcoma MONDO:0002142 undifferentiated pleomorphic sarcoma MONDO:0021054 Orphanet:2023 Orphanet:223727 bone sarcoma MONDO:0002145 disorder of sexual differentiation MONDO:0019755 Orphanet:90771 Orphanet:93890 developmental defect during embryogenesis MONDO:0002412 disorder of glycogen metabolism MONDO:0019214 Orphanet:79201 Orphanet:79161 inborn carbohydrate metabolic disorder MONDO:0002413 glycogen storage disease I MONDO:0002412 Orphanet:364 Orphanet:79201 disorder of glycogen metabolism MONDO:0002441 Jervell and Lange-Nielsen syndrome MONDO:0019171 Orphanet:90647 Orphanet:768 familial long QT syndrome MONDO:0002457 Treacher-Collins syndrome MONDO:0015161 Orphanet:861 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0002457 Treacher-Collins syndrome MONDO:0015483 Orphanet:861 Orphanet:155899 mandibulofacial dysostosis MONDO:0002525 inherited lipid metabolism disorder MONDO:0019052 Orphanet:309005 Orphanet:68367 inborn errors of metabolism MONDO:0002546 schwannoma MONDO:0016752 Orphanet:252164 Orphanet:252131 benign peripheral nerve sheath tumor MONDO:0002561 lysosomal storage disease MONDO:0019052 Orphanet:68366 Orphanet:68367 inborn errors of metabolism MONDO:0002571 primary central nervous system lymphoma MONDO:0017207 Orphanet:46135 Orphanet:279911 primary organ-specific lymphoma MONDO:0002571 primary central nervous system lymphoma MONDO:0017343 Orphanet:46135 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0002588 thymoma type A MONDO:0006456 Orphanet:263310 Orphanet:99867 thymoma MONDO:0002629 bone osteosarcoma MONDO:0021054 Orphanet:668 Orphanet:223727 bone sarcoma MONDO:0002684 atypical choroid plexus papilloma MONDO:0016717 Orphanet:251902 Orphanet:251896 choroid plexus neoplasm MONDO:0002718 central nervous system teratoma MONDO:0019500 Orphanet:252018 Orphanet:883 extragonadal teratoma MONDO:0002728 rhabdoid tumor MONDO:0018078 Orphanet:69077 Orphanet:3394 soft tissue sarcoma MONDO:0002735 anal canal adenocarcinoma MONDO:0007108 Orphanet:424016 Orphanet:424013 anal canal carcinoma MONDO:0002876 cervical adenosarcoma MONDO:0016277 Orphanet:213792 Orphanet:213782 malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO:0002877 cervical carcinosarcoma MONDO:0016277 Orphanet:213787 Orphanet:213782 malignant mixed epithelial and mesenchymal tumor of cervix uteri MONDO:0003010 multilocular clear cell renal cell carcinoma MONDO:0005005 Orphanet:319287 Orphanet:319276 clear cell renal carcinoma MONDO:0003011 mucinous tubular and spindle renal cell carcinoma MONDO:0005086 Orphanet:319322 Orphanet:217071 renal cell carcinoma MONDO:0003266 ependymal tumor MONDO:0021042 Orphanet:301 Orphanet:182067 glioma MONDO:0003360 small intestine leiomyosarcoma MONDO:0018506 Orphanet:104076 Orphanet:423798 mesenchymal tumor of small intestine MONDO:0003429 functioning pituitary gland adenoma MONDO:0006373 Orphanet:314753 Orphanet:99408 pituitary gland adenoma MONDO:0004069 inborn mitochondrial metabolism disorder MONDO:0019243 Orphanet:68380 Orphanet:79200 inborn disorder of energy metabolism MONDO:0004132 anal canal squamous cell carcinoma MONDO:0007108 Orphanet:424019 Orphanet:424013 anal canal carcinoma MONDO:0004187 nodular fasciitis MONDO:0019296 Orphanet:477742 Orphanet:79382 subcutaneous tissue disorder MONDO:0004241 Osgood-Schlatter disease MONDO:0018381 Orphanet:97335 Orphanet:399319 osteochondrosis MONDO:0004334 non-functional pancreatic neuroendocrine tumor MONDO:0019954 Orphanet:506075 Orphanet:97253 pancreatic neuroendocrine tumor MONDO:0004351 intraocular lymphoma MONDO:0017207 Orphanet:279904 Orphanet:279911 primary organ-specific lymphoma MONDO:0004380 dendritic cell sarcoma MONDO:0020082 Orphanet:86903 Orphanet:98289 dendritic cell tumor MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO:0009348 Orphanet:98845 Orphanet:391 classic Hodgkin lymphoma MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion MONDO:0009348 Orphanet:98846 Orphanet:391 classic Hodgkin lymphoma MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO:0009348 Orphanet:98844 Orphanet:391 classic Hodgkin lymphoma MONDO:0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative MONDO:0020077 Orphanet:98824 Orphanet:98275 myelodysplastic/myeloproliferative disease MONDO:0004665 nodular sclerosis classical Hodgkin lymphoma MONDO:0009348 Orphanet:98843 Orphanet:391 classic Hodgkin lymphoma MONDO:0004684 plantar fibromatosis MONDO:0016037 Orphanet:199251 Orphanet:199257 superficial Fibromatosis MONDO:0004739 urea cycle disorder MONDO:0019189 Orphanet:79167 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0004907 alopecia MONDO:0019278 Orphanet:79364 Orphanet:79363 hair anomaly MONDO:0004933 hypoplastic left heart syndrome MONDO:0019820 Orphanet:2248 Orphanet:95483 univentricular cardiopathy MONDO:0004948 B-cell chronic lymphocytic leukemia MONDO:0017594 Orphanet:67038 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma MONDO:0004952 Hodgkins lymphoma MONDO:0005062 Orphanet:98293 Orphanet:223735 lymphoma MONDO:0004952 Hodgkins lymphoma MONDO:0017343 Orphanet:98293 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0004958 oral cavity squamous cell carcinoma MONDO:0044710 Orphanet:502363 Orphanet:502369 lip and oral cavity squamous cell carcinoma MONDO:0004967 acute lymphoblastic leukemia MONDO:0018908 Orphanet:513 Orphanet:547 non-Hodgkin lymphoma MONDO:0004976 amyotrophic lateral sclerosis MONDO:0020128 Orphanet:803 Orphanet:98503 motor neuron disorder MONDO:0005028 esophageal adenocarcinoma MONDO:0019086 Orphanet:99976 Orphanet:70482 carcinoma of esophagus MONDO:0005029 essential thrombocythemia MONDO:0020076 Orphanet:3318 Orphanet:98274 myeloproliferative neoplasm MONDO:0005033 ganglioneuroma MONDO:0016729 Orphanet:251992 Orphanet:251934 mixed neuronal-glial tumor MONDO:0005055 Kaposi's sarcoma MONDO:0015157 Orphanet:33276 Orphanet:102024 human herpesvirus 8-related tumor MONDO:0005058 leiomyosarcoma MONDO:0017345 Orphanet:64720 Orphanet:289656 Epstein-Barr virus-associated mesenchymal tumor MONDO:0005058 leiomyosarcoma MONDO:0018078 Orphanet:64720 Orphanet:3394 soft tissue sarcoma MONDO:0005060 liposarcoma MONDO:0018078 Orphanet:69078 Orphanet:3394 soft tissue sarcoma MONDO:0005062 lymphoma MONDO:0015757 Orphanet:223735 Orphanet:171898 lymphoid hemopathy MONDO:0005100 systemic sclerosis MONDO:0019340 Orphanet:90291 Orphanet:801 scleroderma MONDO:0005103 well-differentiated liposarcoma MONDO:0005060 Orphanet:99971 Orphanet:69078 liposarcoma MONDO:0005115 temporal lobe epilepsy MONDO:0017704 Orphanet:98819 Orphanet:309 familial partial epilepsy MONDO:0005164 fibrosarcoma MONDO:0018078 Orphanet:2030 Orphanet:3394 soft tissue sarcoma MONDO:0005212 rhabdomyosarcoma MONDO:0018078 Orphanet:780 Orphanet:3394 soft tissue sarcoma MONDO:0005220 collecting duct carcinoma MONDO:0005086 Orphanet:247203 Orphanet:217071 renal cell carcinoma MONDO:0005223 acute myeloid leukemia with minimal differentiation MONDO:0015667 Orphanet:98832 Orphanet:167714 acute myeloid leukemia by FAB classification MONDO:0005224 acute myeloblastic leukemia without maturation MONDO:0015667 Orphanet:98833 Orphanet:167714 acute myeloid leukemia by FAB classification MONDO:0005321 Fuchs' endothelial dystrophy MONDO:0020214 Orphanet:98974 Orphanet:98627 posterior corneal dystrophy MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO:0016729 Orphanet:251946 Orphanet:251934 mixed neuronal-glial tumor MONDO:0005508 hereditary multiple osteochondromas MONDO:0019060 Orphanet:321 Orphanet:68411 bone neoplasm MONDO:0005514 nanophthalmia MONDO:0016764 Orphanet:35612 Orphanet:2542 isolated anophthalmia-microphthalmia syndrome MONDO:0005526 tetanus MONDO:0020010 Orphanet:3299 Orphanet:98010 infectious disorder of the nervous system MONDO:0005543 autoimmune hepatitis type 1 MONDO:0016264 Orphanet:563576 Orphanet:2137 autoimmune hepatitis MONDO:0005580 esophageal squamous cell carcinoma MONDO:0019086 Orphanet:99977 Orphanet:70482 carcinoma of esophagus MONDO:0005615 plasmacytoma MONDO:0004959 Orphanet:86855 Orphanet:98282 plasma cell neoplasm MONDO:0005619 typhoid fever MONDO:0000827 Orphanet:99745 Orphanet:795 salmonellosis MONDO:0005620 cerebral amyloid angiopathy MONDO:0018634 Orphanet:85458 Orphanet:444116 hereditary amyloidosis MONDO:0005629 Acanthamoeba keratitis MONDO:0023865 Orphanet:67043 Orphanet:519278 corneal infection MONDO:0005674 bone giant cell tumor MONDO:0021054 Orphanet:363976 Orphanet:223727 bone sarcoma MONDO:0005680 Brill-Zinsser disease MONDO:0019362 Orphanet:99990 Orphanet:83314 epidemic louse-borne typhus MONDO:0005708 Colorado tick fever MONDO:0006009 Orphanet:83595 Orphanet:98252 viral encephalitis MONDO:0005710 composite lymphoma MONDO:0005062 Orphanet:168966 Orphanet:223735 lymphoma MONDO:0005714 congenital syphilis MONDO:0016511 Orphanet:499009 Orphanet:232035 infectious embryofetopathy MONDO:0005715 congenital toxoplasmosis MONDO:0016511 Orphanet:858 Orphanet:232035 infectious embryofetopathy MONDO:0005736 eastern equine encephalitis MONDO:0006009 Orphanet:83594 Orphanet:98252 viral encephalitis MONDO:0005737 Ebola hemorrhagic fever MONDO:0018087 Orphanet:319218 Orphanet:341 viral hemorrhagic fever MONDO:0005761 filarial elephantiasis MONDO:0016075 Orphanet:2035 Orphanet:2034 filariasis MONDO:0005764 follicular dendritic cell sarcoma MONDO:0017345 Orphanet:86902 Orphanet:289656 Epstein-Barr virus-associated mesenchymal tumor MONDO:0005815 pancreatic neuroendocrine neoplasm MONDO:0024503 Orphanet:506052 Orphanet:100092 digestive system neuroendocrine neoplasm MONDO:0005835 Lynch syndrome MONDO:0018630 Orphanet:144 Orphanet:443909 hereditary nonpolyposis colon cancer MONDO:0005838 mansonelliasis MONDO:0016075 Orphanet:2459 Orphanet:2034 filariasis MONDO:0005854 mixed connective tissue disease MONDO:0016663 Orphanet:809 Orphanet:251312 overlapping connective tissue disease MONDO:0005893 pancreatic endocrine carcinoma MONDO:0005815 Orphanet:506098 Orphanet:506052 pancreatic neuroendocrine neoplasm MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO:0019801 Orphanet:100067 Orphanet:95409 acute adrenal insufficiency MONDO:0006247 histiocytic and dendritic cell neoplasm MONDO:0015757 Orphanet:98287 Orphanet:171898 lymphoid hemopathy MONDO:0006260 kidney medullary carcinoma MONDO:0005086 Orphanet:319319 Orphanet:217071 renal cell carcinoma MONDO:0006372 pituicytoma MONDO:0016685 Orphanet:251623 Orphanet:251592 low-grade astrocytoma MONDO:0006373 pituitary gland adenoma MONDO:0017611 Orphanet:99408 Orphanet:304055 pituitary tumor MONDO:0006412 sinus histiocytosis with massive lymphadenopathy MONDO:0015531 Orphanet:158014 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0006447 testicular non-seminomatous germ cell tumor MONDO:0010108 Orphanet:363494 Orphanet:363504 testicular germ cell tumor MONDO:0006451 thymic carcinoma MONDO:0018079 Orphanet:99868 Orphanet:3398 thymic epithelial neoplasm MONDO:0006456 thymoma MONDO:0018079 Orphanet:99867 Orphanet:3398 thymic epithelial neoplasm MONDO:0006468 thyroid gland undifferentiated (anaplastic) carcinoma MONDO:0015075 Orphanet:142 Orphanet:100088 thyroid gland carcinoma MONDO:0006543 epidermolysis bullosa dystrophica MONDO:0019276 Orphanet:303 Orphanet:79361 inherited epidermolysis bullosa MONDO:0006583 necrobiosis lipoidica MONDO:0021154 Orphanet:542592 Orphanet:79381 dermis disorder MONDO:0006602 porokeratosis MONDO:0019268 Orphanet:79358 Orphanet:79353 epidermal disease MONDO:0006651 anterior uveitis MONDO:0020283 Orphanet:280886 Orphanet:98715 uveitis MONDO:0006806 intermediate uveitis MONDO:0020283 Orphanet:279914 Orphanet:98715 uveitis MONDO:0006861 myeloid sarcoma MONDO:0015667 Orphanet:86850 Orphanet:167714 acute myeloid leukemia by FAB classification MONDO:0006908 pituitary apoplexy MONDO:0019832 Orphanet:95613 Orphanet:95502 acquired pituitary hormone deficiency MONDO:0007012 variant Creutzfeldt-Jakob disease MONDO:0018686 Orphanet:576370 Orphanet:454700 acquired Creutzfeldt-Jakob disease MONDO:0007029 branchio-oto-renal syndrome MONDO:0015161 Orphanet:107 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007032 prune belly syndrome MONDO:0018559 Orphanet:2970 Orphanet:435365 fetal lower urinary tract obstruction MONDO:0007037 achondroplasia MONDO:0019685 Orphanet:15 Orphanet:93420 FGFR3-related chondrodysplasia MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0015159 Orphanet:1786 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007045 acrofacial dysostosis, Catania type MONDO:0018237 Orphanet:1786 Orphanet:364574 acrofacial dysostosis MONDO:0007055 Acromicric dysplasia MONDO:0019695 Orphanet:969 Orphanet:93436 acromelic dysplasia MONDO:0007058 Acropectorovertebral dysplasia MONDO:0015929 Orphanet:957 Orphanet:182108 thoracic malformation MONDO:0007059 acrorenal syndrome MONDO:0015161 Orphanet:971 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0017855 Orphanet:277 Orphanet:317419 T-B- severe combined immunodeficiency MONDO:0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency MONDO:0019236 Orphanet:277 Orphanet:79191 inborn disorder of purine metabolism MONDO:0007068 adenylosuccinate lyase deficiency MONDO:0019236 Orphanet:46 Orphanet:79191 inborn disorder of purine metabolism MONDO:0007070 adiposis dolorosa MONDO:0019296 Orphanet:36397 Orphanet:79382 subcutaneous tissue disorder MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0017139 Orphanet:989 Orphanet:2749 oromandibular-limb hypogenesis syndrome MONDO:0007077 Tietz syndrome MONDO:0019290 Orphanet:42665 Orphanet:79376 hypopigmentation of the skin MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO:0016525 Orphanet:403 Orphanet:235936 familial hyperaldosteronism MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia MONDO:0019287 Orphanet:1010 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007086 autosomal dominant Alport syndrome MONDO:0018965 Orphanet:88918 Orphanet:63 Alport syndrome MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MONDO:0019507 Orphanet:100034 Orphanet:88661 amelogenesis imperfecta MONDO:0007095 ameloonychohypohidrotic syndrome MONDO:0019287 Orphanet:1028 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007097 Finnish type amyloidosis MONDO:0018634 Orphanet:85448 Orphanet:444116 hereditary amyloidosis MONDO:0007098 ACys amyloidosis MONDO:0005620 Orphanet:100008 Orphanet:85458 cerebral amyloid angiopathy MONDO:0007099 familial visceral amyloidosis MONDO:0018634 Orphanet:85450 Orphanet:444116 hereditary amyloidosis MONDO:0007100 familial amyloid neuropathy MONDO:0018634 Orphanet:271861 Orphanet:444116 hereditary amyloidosis MONDO:0007101 familial primary localized cutaneous amyloidosis MONDO:0015301 Orphanet:353220 Orphanet:137807 primary cutaneous amyloidosis MONDO:0007108 anal canal carcinoma MONDO:0018516 Orphanet:424013 Orphanet:424010 epithelial tumor of anal canal MONDO:0007109 congenital dyserythropoietic anemia type 3 MONDO:0019403 Orphanet:98870 Orphanet:85 congenital dyserythropoietic anemia MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia MONDO:0019695 Orphanet:63442 Orphanet:93436 acromelic dysplasia MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO:0019296 Orphanet:468666 Orphanet:79382 subcutaneous tissue disorder MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO:0021154 Orphanet:468666 Orphanet:79381 dermis disorder MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO:0019287 Orphanet:1071 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007130 congenital total pulmonary venous return anomaly MONDO:0017705 Orphanet:99125 Orphanet:3090 congenital pulmonary venous return anomaly MONDO:0007131 anonychia with flexural pigmentation MONDO:0019287 Orphanet:69125 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007137 isolated congenital anosmia MONDO:0018751 Orphanet:88620 Orphanet:466084 hereditary otorhinolaryngologic disease MONDO:0007142 Townes-Brocks syndrome MONDO:0015161 Orphanet:857 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO:0015159 Orphanet:1110 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007145 aplasia cutis congenita MONDO:0019294 Orphanet:1114 Orphanet:79380 mixed dermis disorder MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO:0019942 Orphanet:1154 Orphanet:97120 distal arthrogryposis MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome MONDO:0019942 Orphanet:1144 Orphanet:97120 distal arthrogryposis MONDO:0007160 Stickler syndrome type 1 MONDO:0019354 Orphanet:90653 Orphanet:828 Stickler syndrome MONDO:0007160 Stickler syndrome type 1 MONDO:0022800 Orphanet:90653 Orphanet:93421 type 2 collagenopathy MONDO:0007163 episodic ataxia type 2 MONDO:0016227 Orphanet:97 Orphanet:211062 hereditary episodic ataxia MONDO:0007164 spastic ataxia 1 MONDO:0017846 Orphanet:251282 Orphanet:316235 autosomal dominant spastic ataxia MONDO:0007165 spastic ataxia 7 MONDO:0017846 Orphanet:1182 Orphanet:316235 autosomal dominant spastic ataxia MONDO:0007167 atelosteogenesis type I MONDO:0019690 Orphanet:1190 Orphanet:93425 filamin-related bone disorder MONDO:0007168 atelosteogenesis type III MONDO:0019690 Orphanet:56305 Orphanet:93425 filamin-related bone disorder MONDO:0007182 Machado-Joseph disease MONDO:0015548 Orphanet:98757 Orphanet:158266 Huntington disease-like syndrome MONDO:0007182 Machado-Joseph disease MONDO:0019792 Orphanet:98757 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0007187 nevoid basal cell carcinoma syndrome MONDO:0015356 Orphanet:377 Orphanet:140162 hereditary neoplastic syndrome MONDO:0007198 Ascher syndrome MONDO:0015161 Orphanet:1253 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007200 blepharonasofacial malformation syndrome MONDO:0015159 Orphanet:1252 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0008537 Orphanet:126 Orphanet:98575 telecanthus MONDO:0007203 blue rubber bleb nevus MONDO:0015356 Orphanet:1059 Orphanet:140162 hereditary neoplastic syndrome MONDO:0007203 blue rubber bleb nevus MONDO:0019293 Orphanet:1059 Orphanet:79379 skin vascular disease MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome MONDO:0019060 Orphanet:85182 Orphanet:68411 bone neoplasm MONDO:0007207 Böök syndrome MONDO:0019287 Orphanet:1262 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007208 Boomerang dysplasia MONDO:0019690 Orphanet:1263 Orphanet:93425 filamin-related bone disorder MONDO:0007209 Weismann-Netter syndrome MONDO:0019698 Orphanet:3344 Orphanet:93439 bent bone dysplasia MONDO:0007212 brachydactyly-long thumb syndrome MONDO:0016432 Orphanet:2946 Orphanet:228184 heart-hand syndrome MONDO:0007219 Osebold-Remondini syndrome MONDO:0019696 Orphanet:93382 Orphanet:93437 acromesomelic dysplasia MONDO:0007220 brachydactyly type B1 MONDO:0019676 Orphanet:572385 Orphanet:93383 brachydactyly type B MONDO:0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome MONDO:0015159 Orphanet:1246 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007231 brachytelephalangy-dysmorphism-Kallmann syndrome MONDO:0015161 Orphanet:1295 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007232 autosomal dominant brachyolmia MONDO:0015262 Orphanet:93304 Orphanet:1293 brachyolmia MONDO:0007232 autosomal dominant brachyolmia MONDO:0018240 Orphanet:93304 Orphanet:364820 TRPV4-related bone disorder MONDO:0007233 second branchial cleft anomaly MONDO:0015476 Orphanet:141022 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0007235 branchiooculofacial syndrome MONDO:0015161 Orphanet:1297 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007243 Burkitt lymphoma MONDO:0017343 Orphanet:543 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0007243 Burkitt lymphoma MONDO:0017595 Orphanet:543 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma MONDO:0007244 Caffey disease MONDO:0019702 Orphanet:1310 Orphanet:93443 neonatal osteosclerotic dysplasia MONDO:0007245 cafe au lait spots, multiple MONDO:0019289 Orphanet:2678 Orphanet:79375 hyperpigmentation of the skin MONDO:0007251 campomelic dysplasia MONDO:0019698 Orphanet:140 Orphanet:93439 bent bone dysplasia MONDO:0007252 Gordon syndrome MONDO:0015161 Orphanet:376 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007252 Gordon syndrome MONDO:0019942 Orphanet:376 Orphanet:97120 distal arthrogryposis MONDO:0007256 hepatocellular carcinoma MONDO:0018531 Orphanet:88673 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract MONDO:0007259 craniofaciofrontodigital syndrome MONDO:0015159 Orphanet:363705 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome MONDO:0015161 Orphanet:1373 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007293 leukocyte adhesion deficiency 1 MONDO:0017570 Orphanet:99842 Orphanet:2968 leukocyte adhesion deficiency MONDO:0007295 self-limited epilepsy with centrotemporal spikes MONDO:0017704 Orphanet:1945 Orphanet:309 familial partial epilepsy MONDO:0007296 spinocerebellar ataxia type 31 MONDO:0019793 Orphanet:217012 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0007297 ADan amyloidosis MONDO:0018591 Orphanet:97346 Orphanet:439254 ITM2B amyloidosis MONDO:0007298 spinocerebellar ataxia type 29 MONDO:0019792 Orphanet:208513 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0007307 Charcot-Marie-Tooth disease type 1B MONDO:0019011 Orphanet:101082 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0007308 Charcot-Marie-Tooth disease type 2A1 MONDO:0018993 Orphanet:99946 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0007309 Charcot-Marie-Tooth disease type 1A MONDO:0016950 Orphanet:101081 Orphanet:262803 partial duplication of the short arm of chromosome 17 MONDO:0007309 Charcot-Marie-Tooth disease type 1A MONDO:0019011 Orphanet:101081 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0007311 Charcot-Marie-Tooth disease type 1E MONDO:0019011 Orphanet:90658 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0007315 cherubism MONDO:0015161 Orphanet:184 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007318 Alagille syndrome MONDO:0015161 Orphanet:52 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007330 congenital pseudoarthrosis of clavicle MONDO:0018234 Orphanet:66630 Orphanet:364559 dysostosis MONDO:0007334 autosomal dominant popliteal pterygium syndrome MONDO:0017435 Orphanet:1300 Orphanet:294963 popliteal pterygium syndrome MONDO:0007337 cleft palate-lateral synechia syndrome MONDO:0015161 Orphanet:2016 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007338 cleft soft palate MONDO:0016064 Orphanet:99772 Orphanet:2014 cleft palate MONDO:0007339 blepharocheilodontic syndrome MONDO:0015161 Orphanet:1997 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007339 blepharocheilodontic syndrome MONDO:0019287 Orphanet:1997 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007339 blepharocheilodontic syndrome MONDO:0020161 Orphanet:1997 Orphanet:98570 congenital ectropion MONDO:0007343 isolated congenital digital clubbing MONDO:0019284 Orphanet:217059 Orphanet:79369 inherited isolated nail anomaly MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO:0015159 Orphanet:1473 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007363 congenital contractural arachnodactyly MONDO:0017310 Orphanet:115 Orphanet:284993 Marfan and Marfan-related disorder MONDO:0007363 congenital contractural arachnodactyly MONDO:0019942 Orphanet:115 Orphanet:97120 distal arthrogryposis MONDO:0007368 familial benign copper deficiency MONDO:0017762 Orphanet:1551 Orphanet:309839 disorder of copper metabolism MONDO:0007374 Schnyder corneal dystrophy MONDO:0020213 Orphanet:98967 Orphanet:98626 stromal corneal dystrophy MONDO:0007375 epithelial basement membrane dystrophy MONDO:0020212 Orphanet:98956 Orphanet:98625 superficial corneal dystrophy MONDO:0007376 fleck corneal dystrophy MONDO:0020213 Orphanet:98970 Orphanet:98626 stromal corneal dystrophy MONDO:0007377 granular corneal dystrophy type I MONDO:0020213 Orphanet:98962 Orphanet:98626 stromal corneal dystrophy MONDO:0007379 Meesmann corneal dystrophy MONDO:0020212 Orphanet:98954 Orphanet:98625 superficial corneal dystrophy MONDO:0007381 epithelial recurrent erosion dystrophy MONDO:0020212 Orphanet:293381 Orphanet:98625 superficial corneal dystrophy MONDO:0007382 Ramos-Arroyo syndrome MONDO:0015159 Orphanet:1051 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007383 Stern-Lubinsky-Durrie syndrome MONDO:0019287 Orphanet:3194 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007384 congenital trigeminal anesthesia MONDO:0020127 Orphanet:231013 Orphanet:98497 hereditary peripheral neuropathy MONDO:0007388 congenitally short costocoracoid ligament MONDO:0015929 Orphanet:2391 Orphanet:182108 thoracic malformation MONDO:0007395 craniofacial-deafness-hand syndrome MONDO:0015161 Orphanet:1529 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome MONDO:0015704 Orphanet:1538 Orphanet:169163 familial scaphocephaly syndrome MONDO:0007404 Cri-du-chat syndrome MONDO:0016887 Orphanet:281 Orphanet:261893 partial deletion of the short arm of chromosome 5 MONDO:0007405 Crouzon syndrome MONDO:0015338 Orphanet:207 Orphanet:139393 syndromic craniosynostosis MONDO:0007407 Cryoglobulinemic vasculitis MONDO:0015491 Orphanet:91138 Orphanet:156149 immune complex mediated vasculitis MONDO:0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome MONDO:0015161 Orphanet:1547 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007410 isolated cryptophthalmia MONDO:0020153 Orphanet:91396 Orphanet:98562 cryptophthalmia MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0015161 Orphanet:1555 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007412 Beare-Stevenson cutis gyrata syndrome MONDO:0015338 Orphanet:1555 Orphanet:139393 syndromic craniosynostosis MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO:0015161 Orphanet:2674 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007414 Gorham-Stout disease MONDO:0002013 Orphanet:73 Orphanet:2415 lymphangioma MONDO:0007428 deafness-craniofacial syndrome MONDO:0015161 Orphanet:3241 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:0015548 Orphanet:101 Orphanet:158266 Huntington disease-like syndrome MONDO:0007435 dentatorubral-pallidoluysian atrophy MONDO:0019794 Orphanet:101 Orphanet:94149 autosomal dominant cerebellar ataxia type IV MONDO:0007436 dentin dysplasia type I MONDO:0015613 Orphanet:99789 Orphanet:1653 dentin dysplasia MONDO:0007437 dentin dysplasia type II MONDO:0015613 Orphanet:99791 Orphanet:1653 dentin dysplasia MONDO:0007441 dentinogenesis imperfecta type 2 MONDO:0018849 Orphanet:166260 Orphanet:49042 dentinogenesis imperfecta MONDO:0007442 dentinogenesis imperfecta type 3 MONDO:0018849 Orphanet:166265 Orphanet:49042 dentinogenesis imperfecta MONDO:0007445 dermatopathia pigmentosa reticularis MONDO:0019287 Orphanet:86920 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007445 dermatopathia pigmentosa reticularis MONDO:0019289 Orphanet:86920 Orphanet:79375 hyperpigmentation of the skin MONDO:0007449 dermo-odonto dysplasia MONDO:0019287 Orphanet:1660 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007450 neurohypophyseal diabetes insipidus MONDO:0015790 Orphanet:30925 Orphanet:178029 central diabetes insipidus MONDO:0007461 short stature-valvular heart disease-characteristic facies syndrome MONDO:0015161 Orphanet:2868 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007477 3-M syndrome MONDO:0015161 Orphanet:2616 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:0016516 Orphanet:93325 Orphanet:2333 Kenny-Caffey syndrome MONDO:0007483 dyschromatosis symmetrica hereditaria MONDO:0019289 Orphanet:41 Orphanet:79375 hyperpigmentation of the skin MONDO:0007486 hereditary benign intraepithelial dyskeratosis MONDO:0020212 Orphanet:352657 Orphanet:98625 superficial corneal dystrophy MONDO:0007493 torsion dystonia 4 MONDO:0015990 Orphanet:98805 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0007510 Clouston syndrome MONDO:0019287 Orphanet:189 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MONDO:0019287 Orphanet:1818 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007519 Edinburgh malformation syndrome MONDO:0043009 Orphanet:1895 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0007522 Ehlers-Danlos syndrome, classic type MONDO:0020066 Orphanet:287 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0007523 Ehlers-Danlos syndrome, hypermobility type MONDO:0020066 Orphanet:285 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type MONDO:0020066 Orphanet:75392 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0019716 Orphanet:116 Orphanet:93460 overgrowth syndrome MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0016365 Orphanet:652 Orphanet:2207 familial primary hyperparathyroidism MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017169 Orphanet:652 Orphanet:276161 multiple endocrine neoplasia MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0021227 Orphanet:652 Orphanet:100091 adrenal gland neoplasm MONDO:0007548 transient bullous dermolysis of the newborn MONDO:0006543 Orphanet:79411 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa MONDO:0006543 Orphanet:231568 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0007558 self-limited childhood occipital epilepsy MONDO:0020072 Orphanet:25968 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0007560 reading seizures MONDO:0017768 Orphanet:166433 Orphanet:310 reflex epilepsy MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 Orphanet:93308 Orphanet:251 multiple epiphyseal dysplasia MONDO:0007565 familial cylindromatosis MONDO:0011512 Orphanet:211 Orphanet:79493 Brooke-Spiegler syndrome MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0019270 Orphanet:1955 Orphanet:79355 erythrokeratoderma MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0019792 Orphanet:1955 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO:0015161 Orphanet:3023 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0015159 Orphanet:1964 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007588 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome MONDO:0019289 Orphanet:1964 Orphanet:79375 hyperpigmentation of the skin MONDO:0007592 familial recurrent peripheral facial palsy MONDO:0020127 Orphanet:2809 Orphanet:98497 hereditary peripheral neuropathy MONDO:0007604 femoral-facial syndrome MONDO:0015161 Orphanet:1988 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0019296 Orphanet:337 Orphanet:79382 subcutaneous tissue disorder MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome MONDO:0019280 Orphanet:2026 Orphanet:79365 hypertrichosis MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome MONDO:0019287 Orphanet:2026 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0016106 Orphanet:45358 Orphanet:206644 progressive muscular dystrophy MONDO:0007620 fish eye disease MONDO:0018999 Orphanet:79292 Orphanet:650 LCAT deficiency MONDO:0007621 Floating-Harbor syndrome MONDO:0015159 Orphanet:2044 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007624 Flynn-Aird syndrome MONDO:0019303 Orphanet:2047 Orphanet:79389 premature aging syndrome MONDO:0007627 focal facial dermal dysplasia type I MONDO:0018363 Orphanet:79133 Orphanet:398166 focal facial dermal dysplasia MONDO:0007636 frontorhiny MONDO:0016643 Orphanet:391474 Orphanet:250 frontonasal dysplasia MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0018502 Orphanet:26106 Orphanet:423776 hereditary gastric cancer MONDO:0007650 MALT lymphoma MONDO:0017604 Orphanet:52417 Orphanet:300912 marginal zone lymphoma MONDO:0007651 gastrocutaneous syndrome MONDO:0019289 Orphanet:2069 Orphanet:79375 hyperpigmentation of the skin MONDO:0007671 fibronectin glomerulopathy MONDO:0019722 Orphanet:84090 Orphanet:93548 glomerular disorder MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome MONDO:0015161 Orphanet:2091 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0015356 Orphanet:276399 Orphanet:140162 hereditary neoplastic syndrome MONDO:0007686 gray platelet syndrome MONDO:0020117 Orphanet:721 Orphanet:98455 alpha granule disease MONDO:0007688 Myhre syndrome MONDO:0015159 Orphanet:2588 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007688 Myhre syndrome MONDO:0019695 Orphanet:2588 Orphanet:93436 acromelic dysplasia MONDO:0007693 hypertrichosis cubiti-short stature syndrome MONDO:0019280 Orphanet:2220 Orphanet:79365 hypertrichosis MONDO:0007693 hypertrichosis cubiti-short stature syndrome MONDO:0019287 Orphanet:2220 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007698 hand-foot-genital syndrome MONDO:0015161 Orphanet:2438 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007700 hawkinsinuria MONDO:0017307 Orphanet:2118 Orphanet:284818 disorder of tyrosine metabolism MONDO:0007711 Bencze syndrome MONDO:0015161 Orphanet:1241 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007712 oculoauriculovertebral spectrum with radial defects MONDO:0015161 Orphanet:2549 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0016894 Orphanet:98791 Orphanet:261956 partial deletion of the short arm of chromosome 16 MONDO:0007725 hereditary progressive mucinous histiocytosis MONDO:0015531 Orphanet:158025 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0007727 autosomal dominant familial periodic fever MONDO:0017953 Orphanet:32960 Orphanet:324924 hereditary periodic fever syndrome MONDO:0007732 Holt-Oram syndrome MONDO:0015161 Orphanet:392 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007732 Holt-Oram syndrome MONDO:0016432 Orphanet:392 Orphanet:228184 heart-hand syndrome MONDO:0007747 isolated hyperchlorhidrosis MONDO:0021026 Orphanet:542657 Orphanet:183447 hereditary epidermal appendage anomaly MONDO:0007757 hyperkeratosis-hyperpigmentation syndrome MONDO:0019289 Orphanet:1336 Orphanet:79375 hyperpigmentation of the skin MONDO:0007768 hyperparathyroidism 2 with jaw tumors MONDO:0016365 Orphanet:99880 Orphanet:2207 familial primary hyperparathyroidism MONDO:0007772 pseudohypoaldosteronism type 2A MONDO:0019162 Orphanet:88938 Orphanet:757 pseudohypoaldosteronism type 2 MONDO:0007787 Ambras type hypertrichosis universalis congenita MONDO:0016381 Orphanet:1023 Orphanet:2222 hypertrichosis lanuginosa congenita MONDO:0007791 familial hypocalciuric hypercalcemia 1 MONDO:0018458 Orphanet:93372 Orphanet:405 familial hypocalciuric hypercalcemia MONDO:0007792 familial hypocalciuric hypercalcemia 2 MONDO:0018458 Orphanet:101049 Orphanet:405 familial hypocalciuric hypercalcemia MONDO:0007793 hypochondroplasia MONDO:0019685 Orphanet:429 Orphanet:93420 FGFR3-related chondrodysplasia MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MONDO:0015161 Orphanet:2491 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome MONDO:0016892 Orphanet:2237 Orphanet:261938 partial deletion of the short arm of chromosome 10 MONDO:0007800 chromosome 18p deletion syndrome MONDO:0016880 Orphanet:261974 Orphanet:261836 partial deletion of chromosome 18 MONDO:0007808 ichthyosis hystrix of Curth-Macklin MONDO:0017266 Orphanet:79503 Orphanet:281103 keratinopathic ichthyosis MONDO:0007813 superficial epidermolytic ichthyosis MONDO:0017266 Orphanet:455 Orphanet:281103 keratinopathic ichthyosis MONDO:0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant MONDO:0018037 Orphanet:2314 Orphanet:331223 hyper-IgE syndrome MONDO:0007837 Johnson neuroectodermal syndrome MONDO:0015159 Orphanet:2316 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007837 Johnson neuroectodermal syndrome MONDO:0019287 Orphanet:2316 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007838 Jacobsen syndrome MONDO:0016910 Orphanet:2308 Orphanet:262092 partial deletion of the long arm of chromosome 11 MONDO:0007838 Jacobsen syndrome MONDO:0018795 Orphanet:2308 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0007839 Aase-Smith syndrome MONDO:0015161 Orphanet:916 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007846 KBG syndrome MONDO:0015159 Orphanet:2332 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007862 Waardenburg syndrome type 3 MONDO:0018094 Orphanet:896 Orphanet:3440 Waardenburg syndrome MONDO:0007864 angioosteohypertrophic syndrome MONDO:0019716 Orphanet:2346 Orphanet:93460 overgrowth syndrome MONDO:0007872 LADD syndrome MONDO:0015161 Orphanet:2363 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0015159 Orphanet:502 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0016907 Orphanet:502 Orphanet:262065 partial deletion of the long arm of chromosome 8 MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0017951 Orphanet:502 Orphanet:324764 trichorhinophalangeal syndrome MONDO:0007875 Larsen syndrome MONDO:0019690 Orphanet:503 Orphanet:93425 filamin-related bone disorder MONDO:0007885 Legg-Calve-Perthes disease MONDO:0018381 Orphanet:2380 Orphanet:399319 osteochondrosis MONDO:0007891 familial generalized lentiginosis MONDO:0019289 Orphanet:231040 Orphanet:79375 hyperpigmentation of the skin MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:0015159 Orphanet:2658 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0015161 Orphanet:500 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0020297 Orphanet:500 Orphanet:98733 Noonan syndrome and Noonan-related syndrome MONDO:0007895 platyspondylic dysplasia, Torrance type MONDO:0019694 Orphanet:85166 Orphanet:93434 spondylodysplastic dysplasia MONDO:0007895 platyspondylic dysplasia, Torrance type MONDO:0022800 Orphanet:85166 Orphanet:93421 type 2 collagenopathy MONDO:0007904 median nodule of the upper lip MONDO:0015161 Orphanet:2699 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO:0020088 Orphanet:2348 Orphanet:98306 familial partial lipodystrophy MONDO:0007908 multiple symmetric lipomatosis MONDO:0019296 Orphanet:2398 Orphanet:79382 subcutaneous tissue disorder MONDO:0007909 familial multiple lipomatosis MONDO:0019296 Orphanet:199276 Orphanet:79382 subcutaneous tissue disorder MONDO:0007916 primary intestinal lymphangiectasia MONDO:0018178 Orphanet:90362 Orphanet:36204 intestinal lymphangiectasia MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0015159 Orphanet:109 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0015185 Orphanet:109 Orphanet:104010 intestinal polyposis syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0017623 Orphanet:109 Orphanet:306498 PTEN hamartoma tumor syndrome MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO:0019716 Orphanet:109 Orphanet:93460 overgrowth syndrome MONDO:0007925 myelodysplastic syndrome associated with isolated del(5q) MONDO:0018881 Orphanet:86841 Orphanet:52688 myelodysplastic syndrome MONDO:0007927 congenital macroglossia MONDO:0015496 Orphanet:2430 Orphanet:156207 macroglossia MONDO:0007943 Nager acrofacial dysostosis MONDO:0015161 Orphanet:245 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007947 Marfan syndrome MONDO:0017310 Orphanet:558 Orphanet:284993 Marfan and Marfan-related disorder MONDO:0007949 Marshall syndrome MONDO:0015161 Orphanet:560 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007949 Marshall syndrome MONDO:0019287 Orphanet:560 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0007953 Binder syndrome MONDO:0015161 Orphanet:1248 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007956 Pai syndrome MONDO:0016643 Orphanet:1993 Orphanet:250 frontonasal dysplasia MONDO:0007967 melanoma and neural system tumor syndrome MONDO:0015356 Orphanet:252206 Orphanet:140162 hereditary neoplastic syndrome MONDO:0007970 melorheostosis MONDO:0017198 Orphanet:2485 Orphanet:2781 osteopetrosis MONDO:0007986 metatropic dysplasia MONDO:0018240 Orphanet:2635 Orphanet:364820 TRPV4-related bone disorder MONDO:0007987 Kniest dysplasia MONDO:0022800 Orphanet:485 Orphanet:93421 type 2 collagenopathy MONDO:0007988 autosomal dominant primary microcephaly MONDO:0016056 Orphanet:2514 Orphanet:199642 isolated congenital microcephaly MONDO:0007989 congenital microcoria MONDO:0011119 Orphanet:566 Orphanet:98634 iridogoniodysgenesis MONDO:0007991 microcephaly-deafness-intellectual disability syndrome MONDO:0015159 Orphanet:2533 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008004 familial mitral valve prolapse MONDO:0019817 Orphanet:741 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0008016 trismus-pseudocamptodactyly syndrome MONDO:0019942 Orphanet:3377 Orphanet:97120 distal arthrogryposis MONDO:0008019 mullerian aplasia and hyperandrogenism MONDO:0015830 Orphanet:247768 Orphanet:180068 partial bilateral aplasia of the mullerian ducts MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome MONDO:0100309 Orphanet:2579 Orphanet:183518 hereditary ataxia MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO:0018190 Orphanet:209341 Orphanet:363447 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0008029 Bethlem myopathy MONDO:0016106 Orphanet:610 Orphanet:206644 progressive muscular dystrophy MONDO:0008039 tropical spastic paraparesis MONDO:0020010 Orphanet:289326 Orphanet:98010 infectious disorder of the nervous system MONDO:0008040 transient myeloproliferative syndrome MONDO:0020076 Orphanet:420611 Orphanet:98274 myeloproliferative neoplasm MONDO:0008043 myoclonus-cerebellar ataxia-deafness syndrome MONDO:0100309 Orphanet:2589 Orphanet:183518 hereditary ataxia MONDO:0008047 episodic ataxia type 1 MONDO:0016227 Orphanet:37612 Orphanet:211062 hereditary episodic ataxia MONDO:0008048 autosomal dominant centronuclear myopathy MONDO:0018947 Orphanet:169189 Orphanet:595 centronuclear myopathy MONDO:0008050 MYH7-related skeletal myopathy MONDO:0016195 Orphanet:59135 Orphanet:209185 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) MONDO:0008051 tubular aggregate myopathy MONDO:0019952 Orphanet:2593 Orphanet:97245 congenital myopathy MONDO:0008054 juvenile dermatomyositis MONDO:0018010 Orphanet:93672 Orphanet:329888 juvenile idiopathic inflammatory myopathy MONDO:0008056 myotonic dystrophy type 1 MONDO:0016107 Orphanet:273 Orphanet:206647 myotonic dystrophy MONDO:0008058 cylindrical spirals myopathy MONDO:0019952 Orphanet:171886 Orphanet:97245 congenital myopathy MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome MONDO:0019287 Orphanet:69087 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome MONDO:0019289 Orphanet:69087 Orphanet:79375 hyperpigmentation of the skin MONDO:0008060 nonsyndromic congenital nail disorder 1 MONDO:0019284 Orphanet:79153 Orphanet:79369 inherited isolated nail anomaly MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 MONDO:0008264 Orphanet:88950 Orphanet:34149 autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:0008075 schwannomatosis MONDO:0019289 Orphanet:93921 Orphanet:79375 hyperpigmentation of the skin MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0019003 Orphanet:247709 Orphanet:653 multiple endocrine neoplasia type 2 MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO:0022754 Orphanet:640 Orphanet:261965 chromosome 17p deletion MONDO:0008090 cyclic hematopoiesis MONDO:0015134 Orphanet:2686 Orphanet:101987 constitutional neutropenia MONDO:0008094 familial multiple nevi flammei MONDO:0016231 Orphanet:624 Orphanet:211247 capillary malformation MONDO:0008094 familial multiple nevi flammei MONDO:0019293 Orphanet:624 Orphanet:79379 skin vascular disease MONDO:0008111 oculodentodigital dysplasia MONDO:0019287 Orphanet:2710 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008113 Schilbach-Rott syndrome MONDO:0015161 Orphanet:2353 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008115 Feingold syndrome type 1 MONDO:0015267 Orphanet:391641 Orphanet:1305 Feingold syndrome MONDO:0008116 oculopharyngeal muscular dystrophy MONDO:0016106 Orphanet:270 Orphanet:206644 progressive muscular dystrophy MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0015548 Orphanet:98755 Orphanet:158266 Huntington disease-like syndrome MONDO:0008119 spinocerebellar ataxia type 1 MONDO:0019792 Orphanet:98755 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0008123 autosomal dominant omodysplasia MONDO:0017136 Orphanet:93328 Orphanet:2733 omodysplasia MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO:0015159 Orphanet:2743 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008133 optic atrophy 3 MONDO:0020250 Orphanet:67036 Orphanet:98672 autosomal dominant optic atrophy MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0020250 Orphanet:98673 Orphanet:98672 autosomal dominant optic atrophy MONDO:0008139 OSLAM syndrome MONDO:0019060 Orphanet:2760 Orphanet:68411 bone neoplasm MONDO:0008142 Thiemann disease, familial form MONDO:0018381 Orphanet:3314 Orphanet:399319 osteochondrosis MONDO:0008145 Ollier disease MONDO:0019060 Orphanet:296 Orphanet:68411 bone neoplasm MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy MONDO:0019707 Orphanet:2774 Orphanet:93449 primary osteolysis MONDO:0008153 progressive osseous heteroplasia MONDO:0021154 Orphanet:2762 Orphanet:79381 dermis disorder MONDO:0008155 osteomesopyknosis MONDO:0017198 Orphanet:2777 Orphanet:2781 osteopetrosis MONDO:0008161 otodental syndrome MONDO:0016910 Orphanet:2791 Orphanet:262092 partial deletion of the long arm of chromosome 11 MONDO:0008165 southeast Asian ovalocytosis MONDO:0020102 Orphanet:98868 Orphanet:98365 hereditary stomatocytosis MONDO:0008175 pacman dysplasia MONDO:0019707 Orphanet:1952 Orphanet:93449 primary osteolysis MONDO:0008182 nasopalpebral lipoma-coloboma syndrome MONDO:0015161 Orphanet:2399 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0016120 Orphanet:684 Orphanet:206970 myotonic syndrome MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0016956 Orphanet:99027 Orphanet:262869 partial trisomy of the long arm of chromosome 5 MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0019046 Orphanet:99027 Orphanet:68356 leukodystrophy MONDO:0008221 prolidase deficiency MONDO:0019232 Orphanet:742 Orphanet:79187 inborn disorder of peptide metabolism MONDO:0008222 Andersen-Tawil syndrome MONDO:0000995 Orphanet:37553 Orphanet:371433 familial periodic paralysis MONDO:0008223 hypokalemic periodic paralysis MONDO:0000995 Orphanet:681 Orphanet:371433 familial periodic paralysis MONDO:0008224 hyperkalemic periodic paralysis MONDO:0000995 Orphanet:682 Orphanet:371433 familial periodic paralysis MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:0019003 Orphanet:247698 Orphanet:653 multiple endocrine neoplasia type 2 MONDO:0008244 piebaldism MONDO:0019290 Orphanet:2884 Orphanet:79376 hypopigmentation of the skin MONDO:0008245 piebald trait-neurologic defects syndrome MONDO:0019290 Orphanet:2885 Orphanet:79376 hypopigmentation of the skin MONDO:0008250 isolated growth hormone deficiency type II MONDO:0000050 Orphanet:231679 Orphanet:631 isolated congenital growth hormone deficiency MONDO:0008260 Kindler syndrome MONDO:0019276 Orphanet:2908 Orphanet:79361 inherited epidermolysis bullosa MONDO:0008261 hereditary sclerosing poikiloderma, Weary type MONDO:0016382 Orphanet:221039 Orphanet:222628 hereditary poikiloderma MONDO:0008262 Poland syndrome MONDO:0015856 Orphanet:2911 Orphanet:180193 syndromic breast hypoplasia/aplasia MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:0019741 Orphanet:34149 Orphanet:93587 familial cystic renal disease MONDO:0008267 orofaciodigital syndrome V MONDO:0015375 Orphanet:2919 Orphanet:140997 orofaciodigital syndrome MONDO:0008274 polyostotic fibrous dysplasia MONDO:0000845 Orphanet:93276 Orphanet:249 fibrous dysplasia MONDO:0008275 familial expansile osteolysis MONDO:0019707 Orphanet:85195 Orphanet:93449 primary osteolysis MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO:0017380 Orphanet:329971 Orphanet:2929 juvenile polyposis syndrome MONDO:0008280 Peutz-Jeghers syndrome MONDO:0015185 Orphanet:2869 Orphanet:104010 intestinal polyposis syndrome MONDO:0008283 Cronkhite-Canada syndrome MONDO:0015185 Orphanet:2930 Orphanet:104010 intestinal polyposis syndrome MONDO:0008283 Cronkhite-Canada syndrome MONDO:0019287 Orphanet:2930 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008291 porokeratosis plantaris palmaris et disseminata MONDO:0006602 Orphanet:737 Orphanet:79358 porokeratosis MONDO:0008295 sporadic porphyria cutanea tarda MONDO:0015104 Orphanet:443057 Orphanet:101330 porphyria cutanea tarda MONDO:0008296 familial porphyria cutanea tarda MONDO:0015104 Orphanet:443062 Orphanet:101330 porphyria cutanea tarda MONDO:0008303 familial male-limited precocious puberty MONDO:0015791 Orphanet:3000 Orphanet:178040 peripheral precocious puberty MONDO:0008306 ABri amyloidosis MONDO:0018591 Orphanet:97345 Orphanet:439254 ITM2B amyloidosis MONDO:0008310 Hutchinson-Gilford progeria syndrome MONDO:0019707 Orphanet:740 Orphanet:93449 primary osteolysis MONDO:0008312 autosomal dominant prognathism MONDO:0015161 Orphanet:2964 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008318 Proteus syndrome MONDO:0019716 Orphanet:744 Orphanet:93460 overgrowth syndrome MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 MONDO:0019161 Orphanet:171871 Orphanet:756 pseudohypoaldosteronism type 1 MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome MONDO:0015161 Orphanet:2994 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A MONDO:0019942 Orphanet:65743 Orphanet:97120 distal arthrogryposis MONDO:0008339 antecubital pterygium syndrome MONDO:0021154 Orphanet:2987 Orphanet:79381 dermis disorder MONDO:0008343 pulmonary atresia with ventricular septal defect MONDO:0016581 Orphanet:1207 Orphanet:2445 conotruncal heart malformations MONDO:0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome MONDO:0015161 Orphanet:2252 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008368 autosomal dominant distal renal tubular acidosis MONDO:0015827 Orphanet:93608 Orphanet:18 distal renal tubular acidosis MONDO:0008371 Dowling-Degos disease MONDO:0017747 Orphanet:79145 Orphanet:309505 disorder of fucoglycosan synthesis MONDO:0008371 Dowling-Degos disease MONDO:0019289 Orphanet:79145 Orphanet:79375 hyperpigmentation of the skin MONDO:0008389 autosomal dominant Robinow syndrome MONDO:0019978 Orphanet:3107 Orphanet:97360 Robinow syndrome MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO:0019188 Orphanet:353277 Orphanet:783 Rubinstein-Taybi syndrome MONDO:0008403 scalp defects-postaxial polydactyly syndrome MONDO:0019294 Orphanet:1003 Orphanet:79380 mixed dermis disorder MONDO:0008404 scalp-ear-nipple syndrome MONDO:0015161 Orphanet:2036 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019287 Orphanet:2036 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008404 scalp-ear-nipple syndrome MONDO:0019294 Orphanet:2036 Orphanet:79380 mixed dermis disorder MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type MONDO:0016187 Orphanet:85146 Orphanet:209041 qualitative or quantitative defects of desmin MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type MONDO:0024257 Orphanet:85146 Orphanet:98505 hereditary motor neuron disease MONDO:0008421 flat face-microstomia-ear anomaly syndrome MONDO:0015161 Orphanet:1968 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO:0015159 Orphanet:3164 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008426 Shprintzen-Goldberg syndrome MONDO:0015159 Orphanet:2462 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008426 Shprintzen-Goldberg syndrome MONDO:0015338 Orphanet:2462 Orphanet:139393 syndromic craniosynostosis MONDO:0008426 Shprintzen-Goldberg syndrome MONDO:0017310 Orphanet:2462 Orphanet:284993 Marfan and Marfan-related disorder MONDO:0008429 Singleton-Merten dysplasia MONDO:0957408 Orphanet:85191 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0008434 Smith-Magenis syndrome MONDO:0015159 Orphanet:819 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008440 spastic paraplegia-nephritis-deafness syndrome MONDO:0015087 Orphanet:2820 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0008442 spastic paraplegia-neuropathy-poikiloderma syndrome MONDO:0015087 Orphanet:2821 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0008443 spastic paraplegia-precocious puberty syndrome MONDO:0015087 Orphanet:2826 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO:0015159 Orphanet:3038 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 MONDO:0015362 Orphanet:139518 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0008457 spinocerebellar ataxia type 6 MONDO:0019793 Orphanet:98758 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0015548 Orphanet:98756 Orphanet:158266 Huntington disease-like syndrome MONDO:0008458 spinocerebellar ataxia type 2 MONDO:0019792 Orphanet:98756 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0008465 Patterson-Stevenson-Fontaine syndrome MONDO:0018237 Orphanet:2439 Orphanet:364574 acrofacial dysostosis MONDO:0008467 Czeizel-Losonci syndrome MONDO:0015161 Orphanet:2437 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008471 spondyloepiphyseal dysplasia congenita MONDO:0022800 Orphanet:94068 Orphanet:93421 type 2 collagenopathy MONDO:0008473 spondyloepimetaphyseal dysplasia, Maroteaux type MONDO:0018240 Orphanet:263482 Orphanet:364820 TRPV4-related bone disorder MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO:0022800 Orphanet:93346 Orphanet:93421 type 2 collagenopathy MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type MONDO:0016763 Orphanet:93314 Orphanet:254 spondylometaphyseal dysplasia MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type MONDO:0018240 Orphanet:93314 Orphanet:364820 TRPV4-related bone disorder MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type MONDO:0016763 Orphanet:93316 Orphanet:254 spondylometaphyseal dysplasia MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type MONDO:0022800 Orphanet:93316 Orphanet:93421 type 2 collagenopathy MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type MONDO:0016763 Orphanet:93315 Orphanet:254 spondylometaphyseal dysplasia MONDO:0008479 spondylometaphyseal dysplasia, 'corner fracture' type MONDO:0022800 Orphanet:93315 Orphanet:93421 type 2 collagenopathy MONDO:0008482 Sprengel deformity MONDO:0015929 Orphanet:3181 Orphanet:182108 thoracic malformation MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MONDO:0015159 Orphanet:3186 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant MONDO:0015161 Orphanet:166100 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008493 overhydrated hereditary stomatocytosis MONDO:0020102 Orphanet:3203 Orphanet:98365 hereditary stomatocytosis MONDO:0008494 cryohydrocytosis MONDO:0020102 Orphanet:398088 Orphanet:98365 hereditary stomatocytosis MONDO:0008495 platelet storage pool deficiency MONDO:0018795 Orphanet:734 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0008497 Stormorken syndrome MONDO:0018795 Orphanet:3204 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0008512 syndactyly type 1 MONDO:0019530 Orphanet:93402 Orphanet:90025 non-syndromic syndactyly MONDO:0008514 syndactyly type 3 MONDO:0019530 Orphanet:93404 Orphanet:90025 non-syndromic syndactyly MONDO:0008515 syndactyly type 4 MONDO:0019530 Orphanet:93405 Orphanet:90025 non-syndromic syndactyly MONDO:0008516 syndactyly type 5 MONDO:0019530 Orphanet:93406 Orphanet:90025 non-syndromic syndactyly MONDO:0008534 generalized essential telangiectasia MONDO:0019293 Orphanet:280774 Orphanet:79379 skin vascular disease MONDO:0008542 tetralogy of fallot MONDO:0016581 Orphanet:3303 Orphanet:2445 conotruncal heart malformations MONDO:0008546 thanatophoric dysplasia type 1 MONDO:0017042 Orphanet:1860 Orphanet:2655 thanatophoric dysplasia MONDO:0008547 thanatophoric dysplasia type 2 MONDO:0017042 Orphanet:93274 Orphanet:2655 thanatophoric dysplasia MONDO:0008551 thoracolaryngopelvic dysplasia MONDO:0015929 Orphanet:3317 Orphanet:182108 thoracic malformation MONDO:0008551 thoracolaryngopelvic dysplasia MONDO:0019691 Orphanet:3317 Orphanet:93426 short rib dysplasia MONDO:0008557 Paris-Trousseau thrombocytopenia MONDO:0016910 Orphanet:851 Orphanet:262092 partial deletion of the long arm of chromosome 11 MONDO:0008557 Paris-Trousseau thrombocytopenia MONDO:0020117 Orphanet:851 Orphanet:98455 alpha granule disease MONDO:0008558 autoimmune thrombocytopenic purpura MONDO:0019098 Orphanet:3002 Orphanet:71203 autoimmune thrombocytopenia MONDO:0008565 familial thyroglossal duct cyst MONDO:0015476 Orphanet:93953 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0008582 tooth and nail syndrome MONDO:0019287 Orphanet:2228 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008592 tricho-dento-osseous syndrome MONDO:0019287 Orphanet:3352 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008599 trigeminal neuralgia MONDO:0016374 Orphanet:221091 Orphanet:221109 cranial neuralgia MONDO:0008610 blue color blindness MONDO:0001703 Orphanet:88629 Orphanet:98658 color vision disorder MONDO:0008622 tricho-retino-dento-digital syndrome MONDO:0019287 Orphanet:1264 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008633 Muckle-Wells syndrome MONDO:0016168 Orphanet:575 Orphanet:208650 cryopyrin-associated periodic syndrome MONDO:0008637 bifid uvula MONDO:0016064 Orphanet:99771 Orphanet:2014 cleft palate MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MONDO:0015161 Orphanet:3201 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome MONDO:0015161 Orphanet:2064 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008652 congenital vertical talus MONDO:0017427 Orphanet:178382 Orphanet:294944 congenital deformities of limbs MONDO:0008659 transcobalamin I deficiency MONDO:0019220 Orphanet:2967 Orphanet:79171 inborn disorder of cobalamin metabolism and transport MONDO:0008660 autosomal dominant hypophosphatemic rickets MONDO:0000044 Orphanet:89937 Orphanet:437 hereditary hypophosphatemic rickets MONDO:0008668 von Willebrand disease 1 MONDO:0019565 Orphanet:166078 Orphanet:903 hereditary von Willebrand disease MONDO:0008670 Waardenburg syndrome type 1 MONDO:0018094 Orphanet:894 Orphanet:3440 Waardenburg syndrome MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0015161 Orphanet:952 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0018237 Orphanet:952 Orphanet:364574 acrofacial dysostosis MONDO:0008673 acrofacial dysostosis, Weyers type MONDO:0019287 Orphanet:952 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008675 Freeman-Sheldon syndrome MONDO:0015161 Orphanet:2053 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008675 Freeman-Sheldon syndrome MONDO:0019942 Orphanet:2053 Orphanet:97120 distal arthrogryposis MONDO:0008678 Williams syndrome MONDO:0016906 Orphanet:904 Orphanet:262056 partial deletion of the long arm of chromosome 7 MONDO:0008681 WAGR syndrome MONDO:0016893 Orphanet:893 Orphanet:261947 partial deletion of the short arm of chromosome 11 MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0015159 Orphanet:280 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008684 Wolf-Hirschhorn syndrome MONDO:0022762 Orphanet:280 Orphanet:261884 chromosome 4 short arm deletion MONDO:0008688 WT limb-blood syndrome MONDO:0001713 Orphanet:3466 Orphanet:68383 inherited aplastic anemia MONDO:0008692 abetalipoproteinemia MONDO:0017774 Orphanet:14 Orphanet:31154 hypobetalipoproteinemia MONDO:0008692 abetalipoproteinemia MONDO:0020044 Orphanet:14 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia MONDO:0008694 pseudoprogeria syndrome MONDO:0015159 Orphanet:2985 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008695 chorea-acanthocytosis MONDO:0016987 Orphanet:2388 Orphanet:263440 neuroacanthocytosis MONDO:0008701 achondrogenesis type IA MONDO:0019648 Orphanet:93299 Orphanet:932 achondrogenesis MONDO:0008702 achondrogenesis type II MONDO:0019648 Orphanet:93296 Orphanet:932 achondrogenesis MONDO:0008702 achondrogenesis type II MONDO:0022800 Orphanet:93296 Orphanet:93421 type 2 collagenopathy MONDO:0008703 acromesomelic dysplasia 2A MONDO:0019696 Orphanet:2098 Orphanet:93437 acromesomelic dysplasia MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency MONDO:0017855 Orphanet:935 Orphanet:317419 T-B- severe combined immunodeficiency MONDO:0008705 lysosomal acid phosphatase deficiency MONDO:0002561 Orphanet:35121 Orphanet:68366 lysosomal storage disease MONDO:0008706 Ackerman syndrome MONDO:0015161 Orphanet:2561 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008706 Ackerman syndrome MONDO:0019287 Orphanet:2561 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008707 acro-renal-mandibular syndrome MONDO:0015161 Orphanet:958 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008708 acrocallosal syndrome MONDO:0015159 Orphanet:36 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008709 acrocephalopolydactyly MONDO:0015338 Orphanet:221054 Orphanet:139393 syndromic craniosynostosis MONDO:0008712 acrocraniofacial dysostosis MONDO:0015161 Orphanet:949 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008712 acrocraniofacial dysostosis MONDO:0018237 Orphanet:949 Orphanet:364574 acrofacial dysostosis MONDO:0008713 acrodermatitis enteropathica MONDO:0017764 Orphanet:37 Orphanet:309845 disorder of zinc metabolism MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:0015159 Orphanet:1788 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO:0018237 Orphanet:1788 Orphanet:364574 acrofacial dysostosis MONDO:0008715 acrofrontofacionasal dysostosis MONDO:0018237 Orphanet:1784 Orphanet:364574 acrofacial dysostosis MONDO:0008716 acrogeria MONDO:0019303 Orphanet:2500 Orphanet:79389 premature aging syndrome MONDO:0008717 acromesomelic dysplasia 2C, Hunter-Thompson type MONDO:0019696 Orphanet:968 Orphanet:93437 acromesomelic dysplasia MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MONDO:0017714 Orphanet:42 Orphanet:309120 acyl-CoA dehydrogenase deficiency MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO:0017714 Orphanet:26792 Orphanet:309120 acyl-CoA dehydrogenase deficiency MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type MONDO:0015168 Orphanet:2952 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0018479 Orphanet:90790 Orphanet:418 congenital adrenal hyperplasia MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0019852 Orphanet:90790 Orphanet:95710 inherited primary ovarian failure MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0008803 Orphanet:63269 Orphanet:83 Antley-Bixler syndrome MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO:0018479 Orphanet:90791 Orphanet:418 congenital adrenal hyperplasia MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0018479 Orphanet:90794 Orphanet:418 congenital adrenal hyperplasia MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency MONDO:0018479 Orphanet:90795 Orphanet:418 congenital adrenal hyperplasia MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0018479 Orphanet:90793 Orphanet:418 congenital adrenal hyperplasia MONDO:0008740 agnathia-otocephaly complex MONDO:0015159 Orphanet:990 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008741 PAGOD syndrome MONDO:0015161 Orphanet:991 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008742 autosomal dominant severe congenital neutropenia MONDO:0018542 Orphanet:486 Orphanet:42738 severe congenital neutropenia MONDO:0008743 Stimmler syndrome MONDO:0015159 Orphanet:3199 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome MONDO:0015161 Orphanet:2007 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008745 oculocutaneous albinism type 1A MONDO:0018135 Orphanet:79431 Orphanet:352731 oculocutaneous albinism type 1 MONDO:0008746 oculocutaneous albinism type 2 MONDO:0018910 Orphanet:79432 Orphanet:55 oculocutaneous albinism MONDO:0008747 oculocutaneous albinism type 3 MONDO:0018910 Orphanet:79433 Orphanet:55 oculocutaneous albinism MONDO:0008750 microcephaly-albinism-digital anomalies syndrome MONDO:0015161 Orphanet:2513 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008752 Alexander disease MONDO:0019046 Orphanet:58 Orphanet:68356 leukodystrophy MONDO:0008753 alkaptonuria MONDO:0017307 Orphanet:56 Orphanet:284818 disorder of tyrosine metabolism MONDO:0008754 alopecia - contractures - dwarfism - intellectual disability syndrome MONDO:0019287 Orphanet:1005 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0024237 Orphanet:726 Orphanet:183500 inherited neurodegenerative disorder MONDO:0008758 mitochondrial DNA depletion syndrome 4a MONDO:0100512 Orphanet:726 Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0008759 oxoglutaricaciduria MONDO:0016790 Orphanet:31 Orphanet:254749 tricarboxylic acid cycle disorder MONDO:0008760 beta-ketothiolase deficiency MONDO:0019215 Orphanet:134 Orphanet:79163 classic organic aciduria MONDO:0008760 beta-ketothiolase deficiency MONDO:0019229 Orphanet:134 Orphanet:79183 inborn disorder of ketolysis MONDO:0008762 autosomal recessive Alport syndrome MONDO:0018965 Orphanet:88919 Orphanet:63 Alport syndrome MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria MONDO:0017351 Orphanet:79154 Orphanet:289832 inborn disorder of lysine and hydroxylysine metabolism MONDO:0008777 gelatinous drop-like corneal dystrophy MONDO:0020212 Orphanet:98957 Orphanet:98625 superficial corneal dystrophy MONDO:0008783 Tangier disease MONDO:0017773 Orphanet:31150 Orphanet:31153 hypoalphalipoproteinemia MONDO:0008787 microcytic anemia with liver iron overload MONDO:0017763 Orphanet:83642 Orphanet:309842 disorder of iron metabolism and transport MONDO:0008791 anencephaly 1 MONDO:0015159 Orphanet:1048 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008792 familial angiolipomatosis MONDO:0019296 Orphanet:199279 Orphanet:79382 subcutaneous tissue disorder MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MONDO:0015159 Orphanet:1064 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008798 nonsyndromic congenital nail disorder 4 MONDO:0019211 Orphanet:94150 Orphanet:79143 isolated congenital anonychia MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0016073 Orphanet:77298 Orphanet:202948 syndromic microphthalmia MONDO:0008803 Antley-Bixler syndrome MONDO:0015338 Orphanet:83 Orphanet:139393 syndromic craniosynostosis MONDO:0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome MONDO:0019294 Orphanet:1116 Orphanet:79380 mixed dermis disorder MONDO:0008810 familial apolipoprotein C-II deficiency MONDO:0018637 Orphanet:309020 Orphanet:444490 familial chylomicronemia syndrome MONDO:0008812 AREDYLD syndrome MONDO:0019287 Orphanet:1133 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008823 arthrogryposis multiplex congenita 2, neurogenic type MONDO:0015168 Orphanet:1143 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome MONDO:0015168 Orphanet:1150 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0008826 arthrogryposis-hyperkeratosis syndrome, lethal form MONDO:0015168 Orphanet:1485 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0008830 aspartylglucosaminuria MONDO:0019251 Orphanet:93 Orphanet:79215 oligosaccharidosis MONDO:0008830 aspartylglucosaminuria MONDO:0800088 Orphanet:93 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0008832 right atrial isomerism MONDO:0018677 Orphanet:97548 Orphanet:450 visceral heterotaxy MONDO:0008838 ataxia - deafness - intellectual disability syndrome MONDO:0016612 Orphanet:1188 Orphanet:247765 X-linked cerebellar ataxia MONDO:0008840 ataxia telangiectasia MONDO:0019852 Orphanet:100 Orphanet:95710 inherited primary ovarian failure MONDO:0008846 atransferrinemia MONDO:0017763 Orphanet:1195 Orphanet:309842 disorder of iron metabolism and transport MONDO:0008847 atrichia with papular lesions MONDO:0004907 Orphanet:86819 Orphanet:79364 alopecia MONDO:0008849 atrophoderma vermiculata MONDO:0018855 Orphanet:79100 Orphanet:498 keratosis pilaris atrophicans MONDO:0008853 Barber-Say syndrome MONDO:0015161 Orphanet:1231 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008853 Barber-Say syndrome MONDO:0019287 Orphanet:1231 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008857 Beemer-Ertbruggen syndrome MONDO:0015161 Orphanet:1237 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008863 sitosterolemia MONDO:0015905 Orphanet:2882 Orphanet:181437 syndromic dyslipidemia MONDO:0008864 Biemond syndrome type 2 MONDO:0015159 Orphanet:141333 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008870 bird headed-dwarfism, Montreal type MONDO:0015159 Orphanet:2617 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008874 Bangstad syndrome MONDO:0015126 Orphanet:1227 Orphanet:101956 polyendocrinopathy MONDO:0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome MONDO:0015161 Orphanet:2057 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008876 Bloom syndrome MONDO:0015951 Orphanet:125 Orphanet:183490 hereditary photodermatosis MONDO:0008877 blue diaper syndrome MONDO:0019216 Orphanet:94086 Orphanet:79166 inborn disorder of amino acid transport MONDO:0008879 Bowen-Conradi syndrome MONDO:0015159 Orphanet:1270 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008881 kyphomelic dysplasia MONDO:0019698 Orphanet:1801 Orphanet:93439 bent bone dysplasia MONDO:0008884 oculoosteocutaneous syndrome MONDO:0019287 Orphanet:2713 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008885 Elsahy-Waters syndrome MONDO:0015159 Orphanet:1299 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:0015762 Orphanet:79306 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0008893 C syndrome MONDO:0015159 Orphanet:1308 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008893 C syndrome MONDO:0015338 Orphanet:1308 Orphanet:139393 syndromic craniosynostosis MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MONDO:0019280 Orphanet:1375 Orphanet:79365 hypertrichosis MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MONDO:0019287 Orphanet:1375 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008896 campomelia, Cumming type MONDO:0019698 Orphanet:1318 Orphanet:93439 bent bone dysplasia MONDO:0008898 camptodactyly syndrome, Guadalajara type 1 MONDO:0015161 Orphanet:1327 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008899 camptodactyly syndrome, Guadalajara type 2 MONDO:0015161 Orphanet:1326 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008900 camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia MONDO:0015159 Orphanet:1321 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0017740 Orphanet:79318 Orphanet:309347 disorder of protein N-glycosylation MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0017740 Orphanet:79329 Orphanet:309347 disorder of protein N-glycosylation MONDO:0008917 heart defects-limb shortening syndrome MONDO:0015161 Orphanet:1354 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008918 carnitine-acylcarnitine translocase deficiency MONDO:0017716 Orphanet:159 Orphanet:309130 disorder of carnitine cycle and carnitine transport MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0017716 Orphanet:158 Orphanet:309130 disorder of carnitine cycle and carnitine transport MONDO:0008922 Sengers syndrome MONDO:0016801 Orphanet:1369 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0019287 Orphanet:1366 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008926 COFS syndrome MONDO:0016073 Orphanet:1466 Orphanet:202948 syndromic microphthalmia MONDO:0008928 cataract-ataxia-deafness syndrome MONDO:0100309 Orphanet:1368 Orphanet:183518 hereditary ataxia MONDO:0008934 cerebellar ataxia-ectodermal dysplasia syndrome MONDO:0019287 Orphanet:1174 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes MONDO:0020046 Orphanet:1177 Orphanet:98098 autosomal recessive degenerative and progressive cerebellar ataxia MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 MONDO:0020043 Orphanet:1170 Orphanet:98095 autosomal recessive congenital cerebellar ataxia MONDO:0008947 bilateral striopallidodentate calcinosis MONDO:0015547 Orphanet:1980 Orphanet:158124 hereditary dementia MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0015905 Orphanet:909 Orphanet:181437 syndromic dyslipidemia MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0019046 Orphanet:909 Orphanet:68356 leukodystrophy MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0019296 Orphanet:909 Orphanet:79382 subcutaneous tissue disorder MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0020044 Orphanet:909 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia MONDO:0008948 cerebrotendinous xanthomatosis MONDO:0020143 Orphanet:909 Orphanet:98544 cerebral lipidosis with dementia MONDO:0008961 Charcot-Marie-Tooth disease type 4A MONDO:0018995 Orphanet:99948 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0008962 Griscelli syndrome type 1 MONDO:0018306 Orphanet:79476 Orphanet:381 Griscelli syndrome MONDO:0008963 Chediak-Higashi syndrome MONDO:0017305 Orphanet:167 Orphanet:284811 syndromic oculocutaneous albinism MONDO:0008963 Chediak-Higashi syndrome MONDO:0017739 Orphanet:167 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0008963 Chediak-Higashi syndrome MONDO:0024237 Orphanet:167 Orphanet:183500 inherited neurodegenerative disorder MONDO:0008967 congenital bile acid synthesis defect 4 MONDO:0018841 Orphanet:79095 Orphanet:485631 congenital bile acid synthesis defect MONDO:0008970 chondrodysplasia Blomstrand type MONDO:0019702 Orphanet:50945 Orphanet:93443 neonatal osteosclerotic dysplasia MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO:0015776 Orphanet:309789 Orphanet:177 rhizomelic chondrodysplasia punctata MONDO:0008973 chondrodysplasia punctata, Toriello type MONDO:0015775 Orphanet:79347 Orphanet:176 non-rhizomelic chondrodysplasia punctata MONDO:0008974 Greenberg dysplasia MONDO:0019240 Orphanet:1426 Orphanet:79195 sterol biosynthesis disorder MONDO:0008974 Greenberg dysplasia MONDO:0019701 Orphanet:1426 Orphanet:93442 chondrodysplasia punctata MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome MONDO:0100309 Orphanet:1180 Orphanet:183518 hereditary ataxia MONDO:0008988 citrullinemia type I MONDO:0015991 Orphanet:247525 Orphanet:187 citrullinemia MONDO:0008991 Verloove Vanhorick-Brubakk syndrome MONDO:0015161 Orphanet:3429 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008992 Juberg-Hayward syndrome MONDO:0015161 Orphanet:2319 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008998 Cockayne syndrome type 3 MONDO:0016006 Orphanet:90324 Orphanet:191 Cockayne syndrome MONDO:0008999 Cohen syndrome MONDO:0015159 Orphanet:193 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009008 heart defect - tongue hamartoma - polysyndactyly syndrome MONDO:0015161 Orphanet:1338 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MONDO:0015168 Orphanet:2215 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0009018 central cloudy dystrophy of François MONDO:0020213 Orphanet:98972 Orphanet:98626 stromal corneal dystrophy MONDO:0009019 congenital hereditary endothelial dystrophy of cornea MONDO:0020214 Orphanet:293603 Orphanet:98627 posterior corneal dystrophy MONDO:0009020 macular corneal dystrophy MONDO:0020213 Orphanet:98969 Orphanet:98626 stromal corneal dystrophy MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MONDO:0015159 Orphanet:1389 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009026 Costello syndrome MONDO:0015159 Orphanet:3071 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009026 Costello syndrome MONDO:0020297 Orphanet:3071 Orphanet:98733 Noonan syndrome and Noonan-related syndrome MONDO:0009032 cranioectodermal dysplasia MONDO:0015338 Orphanet:1515 Orphanet:139393 syndromic craniosynostosis MONDO:0009032 cranioectodermal dysplasia MONDO:0015461 Orphanet:1515 Orphanet:1505 short rib-polydactyly syndrome MONDO:0009032 cranioectodermal dysplasia MONDO:0019287 Orphanet:1515 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009033 temtamy syndrome MONDO:0015159 Orphanet:1777 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009036 cardiocranial syndrome, Pfeiffer type MONDO:0015159 Orphanet:2872 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009036 cardiocranial syndrome, Pfeiffer type MONDO:0015338 Orphanet:2872 Orphanet:139393 syndromic craniosynostosis MONDO:0009039 Baller-Gerold syndrome MONDO:0015338 Orphanet:1225 Orphanet:139393 syndromic craniosynostosis MONDO:0009042 craniotelencephalic dysplasia MONDO:0015338 Orphanet:1528 Orphanet:139393 syndromic craniosynostosis MONDO:0009046 Fraser syndrome MONDO:0015161 Orphanet:2052 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009046 Fraser syndrome MONDO:0020153 Orphanet:2052 Orphanet:98562 cryptophthalmia MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0020529 Orphanet:189427 Orphanet:647758 ACTH-independent Cushing syndrome MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:0003429 Orphanet:96253 Orphanet:314753 functioning pituitary gland adenoma MONDO:0009050 Cushing disease due to pituitary adenoma MONDO:0020528 Orphanet:96253 Orphanet:99892 ACTH-dependent Cushing syndrome MONDO:0009053 ALDH18A1-related de Barsy syndrome MONDO:0017569 Orphanet:35664 Orphanet:2962 de Barsy syndrome MONDO:0009055 cutis marmorata telangiectatica congenita MONDO:0016231 Orphanet:1556 Orphanet:211247 capillary malformation MONDO:0009055 cutis marmorata telangiectatica congenita MONDO:0019293 Orphanet:1556 Orphanet:79379 skin vascular disease MONDO:0009058 cystathioninuria MONDO:0019222 Orphanet:212 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO:0009064 ocular cystinosis MONDO:0016239 Orphanet:411641 Orphanet:213 cystinosis MONDO:0009067 cystinuria MONDO:0015962 Orphanet:214 Orphanet:183592 inherited renal tubular disease MONDO:0009067 cystinuria MONDO:0019216 Orphanet:214 Orphanet:79166 inborn disorder of amino acid transport MONDO:0009071 hereditary renal hypouricemia MONDO:0015962 Orphanet:94088 Orphanet:183592 inherited renal tubular disease MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO:0015159 Orphanet:1970 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MONDO:0015161 Orphanet:71271 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009084 conductive deafness-ptosis-skeletal anomalies syndrome MONDO:0019287 Orphanet:3236 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly MONDO:0019046 Orphanet:2770 Orphanet:68356 leukodystrophy MONDO:0009093 dermatoleukodystrophy MONDO:0019046 Orphanet:1659 Orphanet:68356 leukodystrophy MONDO:0009094 dermochondrocorneal dystrophy MONDO:0021154 Orphanet:79149 Orphanet:79381 dermis disorder MONDO:0009095 dermatoosteolysis, Kirghizian type MONDO:0019287 Orphanet:1657 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome MONDO:0015962 Orphanet:3145 Orphanet:183592 inherited renal tubular disease MONDO:0009105 trichohepatoenteric syndrome MONDO:0957408 Orphanet:84064 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0009109 lysinuric protein intolerance MONDO:0019216 Orphanet:470 Orphanet:79166 inborn disorder of amino acid transport MONDO:0009110 dicarboxylic aminoaciduria MONDO:0019216 Orphanet:2195 Orphanet:79166 inborn disorder of amino acid transport MONDO:0009111 dihydropyrimidinuria MONDO:0019238 Orphanet:38874 Orphanet:79193 inborn disorder of pyrimidine metabolism MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO:0015776 Orphanet:309796 Orphanet:177 rhizomelic chondrodysplasia punctata MONDO:0009114 congenital sucrase-isomaltase deficiency MONDO:0017706 Orphanet:35122 Orphanet:309001 disorder of carbohydrate transmembrane transport and absorption MONDO:0009115 congenital lactase deficiency MONDO:0017706 Orphanet:53690 Orphanet:309001 disorder of carbohydrate transmembrane transport and absorption MONDO:0009121 von Voss-Cherstvoy syndrome MONDO:0015161 Orphanet:3439 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009123 orthostatic hypotension 1 MONDO:0017759 Orphanet:230 Orphanet:309830 disorder of catecholamine synthesis MONDO:0009123 orthostatic hypotension 1 MONDO:0021272 Orphanet:230 Orphanet:448426 inherited orthostatic hypotension MONDO:0009124 Dubowitz syndrome MONDO:0015159 Orphanet:235 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009124 Dubowitz syndrome MONDO:0019287 Orphanet:235 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0020043 Orphanet:1766 Orphanet:98095 autosomal recessive congenital cerebellar ataxia MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:0017749 Orphanet:98873 Orphanet:309526 disorder of multiple glycosylation MONDO:0009134 congenital dyserythropoietic anemia type 2 MONDO:0019403 Orphanet:98873 Orphanet:85 congenital dyserythropoietic anemia MONDO:0009138 dysosteosclerosis MONDO:0017198 Orphanet:1782 Orphanet:2781 osteopetrosis MONDO:0009141 torsion dystonia 2 MONDO:0015990 Orphanet:99657 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0009144 Ebstein anomaly MONDO:0020289 Orphanet:1880 Orphanet:98721 congenital tricuspid malformation MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome MONDO:0019287 Orphanet:1883 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome MONDO:0019287 Orphanet:1812 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome MONDO:0019287 Orphanet:1882 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009151 cleft lip/palate-ectodermal dysplasia syndrome MONDO:0019287 Orphanet:3253 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009155 EEM syndrome MONDO:0019287 Orphanet:1897 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type MONDO:0020066 Orphanet:230851 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO:0020066 Orphanet:1901 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0009162 Ellis-van Creveld syndrome MONDO:0019287 Orphanet:289 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009166 pontocerebellar hypoplasia type 4 MONDO:0020135 Orphanet:166063 Orphanet:98523 pontocerebellar hypoplasia MONDO:0009167 Bonnemann-Meinecke-Reich syndrome MONDO:0015159 Orphanet:1261 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009175 eosinophilic fasciitis MONDO:0020122 Orphanet:3165 Orphanet:98482 acquired idiopathic inflammatory myopathy MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0017612 Orphanet:231556 Orphanet:305 junctional epidermolysis bullosa MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO:0006543 Orphanet:79408 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy MONDO:0016198 Orphanet:257 Orphanet:209196 qualitative or quantitative defects of plectin MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO:0017612 Orphanet:79404 Orphanet:305 junctional epidermolysis bullosa MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO:0017612 Orphanet:79403 Orphanet:305 junctional epidermolysis bullosa MONDO:0009185 amelocerebrohypohidrotic syndrome MONDO:0019287 Orphanet:1946 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009188 epilepsy-telangiectasia syndrome MONDO:0015159 Orphanet:1951 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009189 multiple epiphyseal dysplasia type 4 MONDO:0016648 Orphanet:93307 Orphanet:251 multiple epiphyseal dysplasia MONDO:0009197 transient erythroblastopenia of childhood MONDO:0020113 Orphanet:98871 Orphanet:98421 primary acquired red cell aplasia MONDO:0009202 Thakker-Donnai syndrome MONDO:0043009 Orphanet:1780 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0009203 focal facial dermal dysplasia type III MONDO:0018363 Orphanet:1807 Orphanet:398166 focal facial dermal dysplasia MONDO:0009205 faciocardiorenal syndrome MONDO:0015159 Orphanet:1973 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009209 autosomal recessive faciodigitogenital syndrome MONDO:0015161 Orphanet:1974 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009211 congenital factor VII deficiency MONDO:0015722 Orphanet:327 Orphanet:169826 congenital vitamin K-dependent coagulation factors deficiency MONDO:0009212 congenital factor X deficiency MONDO:0015722 Orphanet:328 Orphanet:169826 congenital vitamin K-dependent coagulation factors deficiency MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO:0002412 Orphanet:2088 Orphanet:79201 disorder of glycogen metabolism MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia MONDO:0019155 Orphanet:325448 Orphanet:755 Leydig cell hypoplasia MONDO:0009224 fetal iodine syndrome MONDO:0016555 Orphanet:1910 Orphanet:238696 transient congenital hypothyroidism due to maternal factor MONDO:0009224 fetal iodine syndrome MONDO:0016677 Orphanet:1910 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MONDO:0015161 Orphanet:2025 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009229 hyaline fibromatosis syndrome MONDO:0019707 Orphanet:498474 Orphanet:93449 primary osteolysis MONDO:0009231 acromesomelic dysplasia 2B MONDO:0019696 Orphanet:2639 Orphanet:93437 acromesomelic dysplasia MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome MONDO:0015161 Orphanet:2256 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009238 hereditary folate malabsorption MONDO:0017313 Orphanet:90045 Orphanet:285657 disorder of folate metabolism and transport MONDO:0009240 formiminoglutamic aciduria MONDO:0017313 Orphanet:51208 Orphanet:285657 disorder of folate metabolism and transport MONDO:0009241 fountain syndrome MONDO:0015159 Orphanet:3219 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009242 brittle cornea syndrome MONDO:0020066 Orphanet:90354 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0009247 frontofacionasal dysplasia MONDO:0015161 Orphanet:1791 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009247 frontofacionasal dysplasia MONDO:0016643 Orphanet:1791 Orphanet:250 frontonasal dysplasia MONDO:0009249 hereditary fructose intolerance MONDO:0017689 Orphanet:469 Orphanet:308463 disorder of fructose metabolism MONDO:0009251 fructose-1,6-bisphosphatase deficiency MONDO:0019225 Orphanet:348 Orphanet:79177 disorder of gluconeogenesis MONDO:0009252 essential fructosuria MONDO:0017689 Orphanet:2056 Orphanet:308463 disorder of fructose metabolism MONDO:0009253 Fryns syndrome MONDO:0015159 Orphanet:2059 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009254 fucosidosis MONDO:0019251 Orphanet:349 Orphanet:79215 oligosaccharidosis MONDO:0009254 fucosidosis MONDO:0800088 Orphanet:349 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009255 galactokinase deficiency MONDO:0018116 Orphanet:79237 Orphanet:352 galactosemia MONDO:0009257 galactose epimerase deficiency MONDO:0018116 Orphanet:79238 Orphanet:352 galactosemia MONDO:0009258 classic galactosemia MONDO:0018116 Orphanet:79239 Orphanet:352 galactosemia MONDO:0009258 classic galactosemia MONDO:0019852 Orphanet:79239 Orphanet:95710 inherited primary ovarian failure MONDO:0009260 GM1 gangliosidosis type 1 MONDO:0018149 Orphanet:79255 Orphanet:354 GM1 gangliosidosis MONDO:0009261 GM1 gangliosidosis type 2 MONDO:0018149 Orphanet:79256 Orphanet:354 GM1 gangliosidosis MONDO:0009262 GM1 gangliosidosis type 3 MONDO:0018149 Orphanet:79257 Orphanet:354 GM1 gangliosidosis MONDO:0009263 GAPO syndrome MONDO:0015159 Orphanet:2067 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009263 GAPO syndrome MONDO:0019287 Orphanet:2067 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009265 Gaucher disease type I MONDO:0018150 Orphanet:77259 Orphanet:355 Gaucher disease MONDO:0009265 Gaucher disease type I MONDO:0020143 Orphanet:77259 Orphanet:98544 cerebral lipidosis with dementia MONDO:0009266 Gaucher disease type II MONDO:0018150 Orphanet:77260 Orphanet:355 Gaucher disease MONDO:0009267 Gaucher disease type III MONDO:0018150 Orphanet:77261 Orphanet:355 Gaucher disease MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0018150 Orphanet:2072 Orphanet:355 Gaucher disease MONDO:0009270 genito-palato-cardiac syndrome MONDO:0015161 Orphanet:2075 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO:0017714 Orphanet:26791 Orphanet:309120 acyl-CoA dehydrogenase deficiency MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria MONDO:0017909 Orphanet:289849 Orphanet:32 inherited glutathione synthetase deficiency MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO:0002413 Orphanet:79258 Orphanet:364 glycogen storage disease I MONDO:0009290 glycogen storage disease II MONDO:0002412 Orphanet:365 Orphanet:79201 disorder of glycogen metabolism MONDO:0009290 glycogen storage disease II MONDO:0017738 Orphanet:365 Orphanet:309337 lysosomal glycogen storage disease MONDO:0009291 glycogen storage disease III MONDO:0002412 Orphanet:366 Orphanet:79201 disorder of glycogen metabolism MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0002412 Orphanet:367 Orphanet:79201 disorder of glycogen metabolism MONDO:0009293 glycogen storage disease V MONDO:0002412 Orphanet:368 Orphanet:79201 disorder of glycogen metabolism MONDO:0009294 glycogen storage disease VI MONDO:0002412 Orphanet:369 Orphanet:79201 disorder of glycogen metabolism MONDO:0009295 glycogen storage disease VII MONDO:0002412 Orphanet:371 Orphanet:79201 disorder of glycogen metabolism MONDO:0009297 familial renal glucosuria MONDO:0019226 Orphanet:69076 Orphanet:79178 glucose transport disorder MONDO:0009299 46 XX gonadal dysgenesis MONDO:0019852 Orphanet:243 Orphanet:95710 inherited primary ovarian failure MONDO:0009300 Perrault syndrome 1 MONDO:0017312 Orphanet:642945 Orphanet:2855 Perrault syndrome MONDO:0009312 lipodystrophy due to peptidic growth factors deficiency MONDO:0020087 Orphanet:1979 Orphanet:98305 hereditary lipodystrophy MONDO:0009318 Hallermann-Streiff syndrome MONDO:0019303 Orphanet:2108 Orphanet:79389 premature aging syndrome MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0016987 Orphanet:157850 Orphanet:263440 neuroacanthocytosis MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO:0018307 Orphanet:157850 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0009320 Hall-Riggs syndrome MONDO:0015159 Orphanet:2107 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009331 isolated hemihyperplasia MONDO:0019716 Orphanet:2128 Orphanet:93460 overgrowth syndrome MONDO:0009339 congenital bile acid synthesis defect 2 MONDO:0018841 Orphanet:79303 Orphanet:485631 congenital bile acid synthesis defect MONDO:0009341 Mowat-Wilson syndrome MONDO:0015159 Orphanet:2152 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009341 Mowat-Wilson syndrome MONDO:0015653 Orphanet:2152 Orphanet:166472 monogenic epilepsy MONDO:0009342 Hirschsprung disease-hearing loss-polydactyly syndrome MONDO:0015161 Orphanet:2155 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009345 histidinemia MONDO:0019228 Orphanet:2157 Orphanet:79181 inborn disorder of histidine metabolism MONDO:0009348 classic Hodgkin lymphoma MONDO:0004952 Orphanet:391 Orphanet:98293 Hodgkins lymphoma MONDO:0009350 Holzgreve-Wagner-Rehder syndrome MONDO:0015161 Orphanet:2167 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009352 classic homocystinuria MONDO:0015327 Orphanet:394 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0017313 Orphanet:395 Orphanet:285657 disorder of folate metabolism and transport MONDO:0009354 methylcobalamin deficiency type cblE MONDO:0018964 Orphanet:2169 Orphanet:622 homocystinuria without methylmalonic aciduria MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome MONDO:0043009 Orphanet:500135 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0009363 hydrocephaly-tall stature-joint laxity syndrome MONDO:0015161 Orphanet:2181 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009367 McKusick-Kaufman syndrome MONDO:0015161 Orphanet:2473 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009369 non-immune hydrops fetalis MONDO:0015193 Orphanet:363999 Orphanet:1041 hydrops fetalis MONDO:0009370 L-2-hydroxyglutaric aciduria MONDO:0016001 Orphanet:79314 Orphanet:19 2-hydroxyglutaric aciduria MONDO:0009371 3-hydroxyisobutyric aciduria MONDO:0019215 Orphanet:939 Orphanet:79163 classic organic aciduria MONDO:0009372 encephalopathy due to hydroxykynureninuria MONDO:0017350 Orphanet:79155 Orphanet:289829 inborn disorder of tryptophan metabolism MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO:0017351 Orphanet:79156 Orphanet:289832 inborn disorder of lysine and hydroxylysine metabolism MONDO:0009378 hyper-beta-alaninemia MONDO:0019238 Orphanet:309147 Orphanet:79193 inborn disorder of pyrimidine metabolism MONDO:0009387 familial lipoprotein lipase deficiency MONDO:0018637 Orphanet:309015 Orphanet:444490 familial chylomicronemia syndrome MONDO:0009388 hyperlysinemia MONDO:0017351 Orphanet:2203 Orphanet:289832 inborn disorder of lysine and hydroxylysine metabolism MONDO:0009402 acrofrontofacionasal dysostosis 2 MONDO:0015161 Orphanet:2211 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO:0015159 Orphanet:2213 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009405 cervical hypertrichosis-peripheral neuropathy syndrome MONDO:0019280 Orphanet:2218 Orphanet:79365 hypertrichosis MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0016165 Orphanet:3453 Orphanet:208593 hereditary hypoparathyroidism MONDO:0009411 autoimmune polyendocrine syndrome type 1 MONDO:0017278 Orphanet:3453 Orphanet:282196 autoimmune polyendocrinopathy MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO:0019716 Orphanet:293964 Orphanet:93460 overgrowth syndrome MONDO:0009419 Woodhouse-Sakati syndrome MONDO:0018307 Orphanet:3464 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0009424 Bartter disease type 2 MONDO:0015231 Orphanet:620220 Orphanet:112 Bartter syndrome MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO:0015159 Orphanet:2323 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria MONDO:0000044 Orphanet:157215 Orphanet:437 hereditary hypophosphatemic rickets MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MONDO:0015159 Orphanet:2261 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO:0019287 Orphanet:2269 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome MONDO:0100309 Orphanet:2274 Orphanet:183518 hereditary ataxia MONDO:0009452 Vici syndrome MONDO:0015161 Orphanet:1493 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009458 Schimke immuno-osseous dysplasia MONDO:0015708 Orphanet:1830 Orphanet:169349 immuno-osseous dysplasia MONDO:0009461 spermatogenic failure 5 MONDO:0018394 Orphanet:137893 Orphanet:399808 male infertility with teratozoospermia due to single gene mutation MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 MONDO:0019008 Orphanet:99960 Orphanet:65682 benign recurrent intrahepatic cholestasis MONDO:0009475 isovaleric acidemia MONDO:0019215 Orphanet:33 Orphanet:79163 classic organic aciduria MONDO:0009477 Stromme syndrome MONDO:0015159 Orphanet:506307 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009477 Stromme syndrome MONDO:0043009 Orphanet:444069 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0009479 Johanson-Blizzard syndrome MONDO:0015159 Orphanet:2315 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0015369 Orphanet:2318 Orphanet:140874 Joubert syndrome and related disorders MONDO:0009483 Kapur-Toriello syndrome MONDO:0015159 Orphanet:2328 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:0015159 Orphanet:2707 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:0016516 Orphanet:93324 Orphanet:2333 Kenny-Caffey syndrome MONDO:0009490 Papillon-Lefevre disease MONDO:0017739 Orphanet:678 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0009491 Haim-Munk syndrome MONDO:0017739 Orphanet:2342 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0019229 Orphanet:832 Orphanet:79183 inborn disorder of ketolysis MONDO:0009493 Richards-Rundle syndrome MONDO:0100309 Orphanet:1399 Orphanet:183518 hereditary ataxia MONDO:0009495 Keutel syndrome MONDO:0015159 Orphanet:85202 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009495 Keutel syndrome MONDO:0019701 Orphanet:85202 Orphanet:93442 chondrodysplasia punctata MONDO:0009499 Krabbe disease MONDO:0019046 Orphanet:487 Orphanet:68356 leukodystrophy MONDO:0009499 Krabbe disease MONDO:0019255 Orphanet:487 Orphanet:79225 sphingolipidosis MONDO:0009501 metabolic myopathy due to lactate transporter defect MONDO:0020123 Orphanet:171690 Orphanet:98486 metabolic myopathy MONDO:0009502 pyruvate dehydrogenase E2 deficiency MONDO:0019169 Orphanet:79244 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency MONDO:0019169 Orphanet:255182 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0016796 Orphanet:17 Orphanet:254803 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO:0009507 Lambert syndrome MONDO:0015159 Orphanet:1296 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009509 Landau-Kleffner syndrome MONDO:0020072 Orphanet:98818 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0017612 Orphanet:2407 Orphanet:305 junctional epidermolysis bullosa MONDO:0009514 Laurence-Moon syndrome MONDO:0015159 Orphanet:2377 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009515 Norum disease MONDO:0018999 Orphanet:79293 Orphanet:650 LCAT deficiency MONDO:0009517 Donohue syndrome MONDO:0015161 Orphanet:508 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0017713 Orphanet:20 Orphanet:309115 disorder of fatty acid oxidation and ketogenesis MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0019215 Orphanet:20 Orphanet:79163 classic organic aciduria MONDO:0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome MONDO:0019287 Orphanet:1816 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MONDO:0015159 Orphanet:1891 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009525 split hand-foot malformation 3 MONDO:0016961 Orphanet:1307 Orphanet:262914 partial duplication of the long arm of chromosome 10 MONDO:0009527 lipase deficiency, combined MONDO:0018637 Orphanet:535453 Orphanet:444490 familial chylomicronemia syndrome MONDO:0009528 chylomicron retention disease MONDO:0017774 Orphanet:71 Orphanet:31154 hypobetalipoproteinemia MONDO:0009529 pyruvate dehydrogenase E3 deficiency MONDO:0018424 Orphanet:2394 Orphanet:401854 inherited lipoic acid biosynthesis defect MONDO:0009529 pyruvate dehydrogenase E3 deficiency MONDO:0019169 Orphanet:2394 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0009530 lipoid proteinosis MONDO:0021154 Orphanet:530 Orphanet:79381 dermis disorder MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0015146 Orphanet:531 Orphanet:102009 classic lissencephaly MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0022754 Orphanet:531 Orphanet:261965 chromosome 17p deletion MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0015161 Orphanet:1563 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009533 Dahlberg-Borer-Newcomer syndrome MONDO:0019287 Orphanet:1563 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009537 lymphoid interstitial pneumonia MONDO:0002429 Orphanet:79128 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome MONDO:0015159 Orphanet:2083 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO:0017624 Orphanet:2196 Orphanet:306516 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0009550 renal hypomagnesemia 3 MONDO:0017624 Orphanet:31043 Orphanet:306516 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy MONDO:0016584 Orphanet:90153 Orphanet:2457 mandibuloacral dysplasia MONDO:0009561 alpha-mannosidosis MONDO:0019251 Orphanet:61 Orphanet:79215 oligosaccharidosis MONDO:0009561 alpha-mannosidosis MONDO:0800088 Orphanet:61 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009562 beta-mannosidosis MONDO:0019251 Orphanet:118 Orphanet:79215 oligosaccharidosis MONDO:0009562 beta-mannosidosis MONDO:0800088 Orphanet:118 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009563 maple syrup urine disease MONDO:0019242 Orphanet:511 Orphanet:79197 inborn disorder of branched-chain amino acid metabolism MONDO:0009564 Marden-Walker syndrome MONDO:0015159 Orphanet:2461 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009564 Marden-Walker syndrome MONDO:0015168 Orphanet:2461 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome MONDO:0015159 Orphanet:2172 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome MONDO:0015159 Orphanet:2463 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009567 Marinesco-Sjogren syndrome MONDO:0020046 Orphanet:559 Orphanet:98098 autosomal recessive degenerative and progressive cerebellar ataxia MONDO:0009570 McDonough syndrome MONDO:0015159 Orphanet:2471 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0020112 Orphanet:49827 Orphanet:98415 vitamin B12- and folate-independent constitutional megaloblastic anemia MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0015159 Orphanet:3044 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009584 intellectual disability, Buenos-Aires type MONDO:0015159 Orphanet:3079 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:0015161 Orphanet:2631 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009591 metachromatic leukodystrophy, juvenile form MONDO:0018868 Orphanet:309263 Orphanet:512 metachromatic leukodystrophy MONDO:0009595 cartilage-hair hypoplasia MONDO:0015708 Orphanet:175 Orphanet:169349 immuno-osseous dysplasia MONDO:0009595 cartilage-hair hypoplasia MONDO:0019287 Orphanet:175 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0019215 Orphanet:88639 Orphanet:79163 classic organic aciduria MONDO:0009607 methionine adenosyltransferase deficiency MONDO:0019222 Orphanet:168598 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO:0009609 methylcobalamin deficiency type cblG MONDO:0018964 Orphanet:2170 Orphanet:622 homocystinuria without methylmalonic aciduria MONDO:0009610 3-methylglutaconic aciduria type 1 MONDO:0017359 Orphanet:67046 Orphanet:289902 3-methylglutaconic aciduria MONDO:0009611 3-methylglutaconic aciduria type 4 MONDO:0017359 Orphanet:67048 Orphanet:289902 3-methylglutaconic aciduria MONDO:0009613 methylmalonic aciduria, cblA type MONDO:0017214 Orphanet:79310 Orphanet:28 vitamin B12-responsive methylmalonic acidemia MONDO:0009614 methylmalonic aciduria, cblB type MONDO:0017214 Orphanet:79311 Orphanet:28 vitamin B12-responsive methylmalonic acidemia MONDO:0009618 microcephaly-cardiomyopathy syndrome MONDO:0015159 Orphanet:2515 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009620 Say-Barber-Miller syndrome MONDO:0015159 Orphanet:3132 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009621 microcephaly-cervical spine fusion anomalies syndrome MONDO:0015159 Orphanet:2522 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009622 Jawad syndrome MONDO:0015159 Orphanet:313795 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009623 Nijmegen breakage syndrome MONDO:0015161 Orphanet:647 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0019236 Orphanet:279934 Orphanet:79191 inborn disorder of purine metabolism MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0100512 Orphanet:279934 Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0009642 orofaciodigital syndrome type II MONDO:0015375 Orphanet:2751 Orphanet:140997 orofaciodigital syndrome MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0020480 Orphanet:308386 Orphanet:99732 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0020480 Orphanet:308393 Orphanet:99732 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009648 peripheral motor neuropathy-dysautonomia syndrome MONDO:0015914 Orphanet:2400 Orphanet:182058 primary orthostatic hypotension MONDO:0009650 mucolipidosis type II MONDO:0800088 Orphanet:576 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0018937 Orphanet:79269 Orphanet:581 mucopolysaccharidosis type 3 MONDO:0009656 mucopolysaccharidosis type 3B MONDO:0018937 Orphanet:79270 Orphanet:581 mucopolysaccharidosis type 3 MONDO:0009657 mucopolysaccharidosis type 3C MONDO:0018937 Orphanet:79271 Orphanet:581 mucopolysaccharidosis type 3 MONDO:0009658 mucopolysaccharidosis type 3D MONDO:0018937 Orphanet:79272 Orphanet:581 mucopolysaccharidosis type 3 MONDO:0009659 mucopolysaccharidosis type 4A MONDO:0018938 Orphanet:309297 Orphanet:582 mucopolysaccharidosis type 4 MONDO:0009660 mucopolysaccharidosis type 4B MONDO:0018938 Orphanet:309310 Orphanet:582 mucopolysaccharidosis type 4 MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0019249 Orphanet:583 Orphanet:79213 mucopolysaccharidosis MONDO:0009661 mucopolysaccharidosis type 6 MONDO:0800088 Orphanet:583 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0019249 Orphanet:584 Orphanet:79213 mucopolysaccharidosis MONDO:0009662 mucopolysaccharidosis type 7 MONDO:0800088 Orphanet:584 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009665 biotinidase deficiency MONDO:0015454 Orphanet:79241 Orphanet:148 multiple carboxylase deficiency MONDO:0009666 holocarboxylase synthetase deficiency MONDO:0015454 Orphanet:79242 Orphanet:148 multiple carboxylase deficiency MONDO:0009668 lethal multiple pterygium syndrome MONDO:0017415 Orphanet:33108 Orphanet:294060 multiple pterygium syndrome MONDO:0009669 spinal muscular atrophy, type 1 MONDO:0019079 Orphanet:83330 Orphanet:70 proximal spinal muscular atrophy MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0015161 Orphanet:1486 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0015929 Orphanet:1486 Orphanet:182108 thoracic malformation MONDO:0009670 lethal congenital contracture syndrome 1 MONDO:0017436 Orphanet:1486 Orphanet:294965 lethal congenital contracture syndrome MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome MONDO:0019952 Orphanet:3068 Orphanet:97245 congenital myopathy MONDO:0009672 spinal muscular atrophy, type III MONDO:0019079 Orphanet:83419 Orphanet:70 proximal spinal muscular atrophy MONDO:0009673 spinal muscular atrophy, type II MONDO:0019079 Orphanet:83418 Orphanet:70 proximal spinal muscular atrophy MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A MONDO:0015152 Orphanet:267 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B MONDO:0015152 Orphanet:268 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B MONDO:0016145 Orphanet:268 Orphanet:207073 qualitative or quantitative defects of dysferlin MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:0015152 Orphanet:353 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C MONDO:0016143 Orphanet:353 Orphanet:207067 qualitative or quantitative defects of gamma-sarcoglycan MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome MONDO:0019950 Orphanet:1875 Orphanet:97242 congenital muscular dystrophy MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H MONDO:0015152 Orphanet:1878 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H MONDO:0016153 Orphanet:1878 Orphanet:207107 qualitative or quantitative defects of TRIM32 MONDO:0009691 mycosis fungoides MONDO:0015821 Orphanet:2584 Orphanet:178566 mycosis fungoides and variants MONDO:0009692 primary myelofibrosis MONDO:0015610 Orphanet:824 Orphanet:164823 acquired aplastic anemia MONDO:0009692 primary myelofibrosis MONDO:0020076 Orphanet:824 Orphanet:98274 myeloproliferative neoplasm MONDO:0009693 plasma cell myeloma MONDO:0004959 Orphanet:29073 Orphanet:98282 plasma cell neoplasm MONDO:0009697 Lafora disease MONDO:0020074 Orphanet:501 Orphanet:98261 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 Orphanet:308 Orphanet:98261 progressive myoclonus epilepsy MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form MONDO:0015515 Orphanet:228302 Orphanet:157 carnitine palmitoyltransferase II deficiency MONDO:0009705 carnitine palmitoyl transferase 1A deficiency MONDO:0017716 Orphanet:156 Orphanet:309130 disorder of carnitine cycle and carnitine transport MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO:0020123 Orphanet:43115 Orphanet:98486 metabolic myopathy MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO:0018948 Orphanet:98905 Orphanet:598 multiminicore myopathy MONDO:0009717 Schwartz-Jampel syndrome MONDO:0016151 Orphanet:800 Orphanet:207101 qualitative or quantitative defects of perlecan MONDO:0009720 Keipert syndrome MONDO:0015161 Orphanet:2662 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009722 Bailey-Bloch congenital myopathy MONDO:0019952 Orphanet:168572 Orphanet:97245 congenital myopathy MONDO:0009726 proteosome-associated autoinflammatory syndrome MONDO:0957408 Orphanet:324977 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0009728 nephronophthisis 1 MONDO:0019005 Orphanet:93592 Orphanet:655 nephronophthisis MONDO:0009731 nephrosis-deafness-urinary tract-digital malformations syndrome MONDO:0015161 Orphanet:2669 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009735 Netherton syndrome MONDO:0018037 Orphanet:634 Orphanet:331223 hyper-IgE syndrome MONDO:0009736 Neu-Laxova syndrome 1 MONDO:0000179 Orphanet:583607 Orphanet:2671 Neu-Laxova syndrome MONDO:0009737 galactosialidosis MONDO:0019251 Orphanet:351 Orphanet:79215 oligosaccharidosis MONDO:0009737 galactosialidosis MONDO:0800088 Orphanet:351 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009738 sialidosis type 2 MONDO:0017734 Orphanet:87876 Orphanet:309294 sialidosis MONDO:0009738 sialidosis type 2 MONDO:0800088 Orphanet:87876 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009740 neurofaciodigitorenal syndrome MONDO:0015159 Orphanet:2673 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0016295 Orphanet:228329 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0016295 Orphanet:228360 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0100512 Orphanet:255229 Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0009760 Norman-Roberts syndrome MONDO:0015204 Orphanet:89844 Orphanet:1083 microlissencephaly MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0017305 Orphanet:2719 Orphanet:284811 syndromic oculocutaneous albinism MONDO:0009769 oculo-palato-cerebral syndrome MONDO:0015159 Orphanet:2714 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009771 oculotrichodysplasia MONDO:0019287 Orphanet:2718 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009774 cloacal exstrophy MONDO:0017919 Orphanet:93929 Orphanet:322 exstrophy-epispadias complex MONDO:0009777 Oliver syndrome MONDO:0015159 Orphanet:2920 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 Orphanet:93329 Orphanet:2733 omodysplasia MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:0015159 Orphanet:2736 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0017359 Orphanet:67047 Orphanet:289902 3-methylglutaconic aciduria MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0015161 Orphanet:2272 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009794 orofaciodigital syndrome IV MONDO:0015375 Orphanet:2753 Orphanet:140997 orofaciodigital syndrome MONDO:0009794 orofaciodigital syndrome IV MONDO:0015929 Orphanet:2753 Orphanet:182108 thoracic malformation MONDO:0009794 orofaciodigital syndrome IV MONDO:0019691 Orphanet:2753 Orphanet:93426 short rib dysplasia MONDO:0009795 orofaciodigital syndrome IX MONDO:0015375 Orphanet:141007 Orphanet:140997 orofaciodigital syndrome MONDO:0009796 ornithine aminotransferase deficiency MONDO:0017356 Orphanet:414 Orphanet:289869 inborn disorder of ornithine metabolism MONDO:0009797 orotic aciduria MONDO:0019238 Orphanet:30 Orphanet:79193 inborn disorder of pyrimidine metabolism MONDO:0009797 orotic aciduria MONDO:0020112 Orphanet:30 Orphanet:98415 vitamin B12- and folate-independent constitutional megaloblastic anemia MONDO:0009810 autosomal recessive distal osteolysis syndrome MONDO:0019707 Orphanet:2776 Orphanet:93449 primary osteolysis MONDO:0009821 lethal osteosclerotic bone dysplasia MONDO:0019702 Orphanet:1832 Orphanet:93443 neonatal osteosclerotic dysplasia MONDO:0009822 otoonychoperoneal syndrome MONDO:0015161 Orphanet:2793 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009823 primary hyperoxaluria type 1 MONDO:0002474 Orphanet:93598 Orphanet:416 primary hyperoxaluria MONDO:0009824 primary hyperoxaluria type 2 MONDO:0002474 Orphanet:93599 Orphanet:416 primary hyperoxaluria MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome MONDO:0020488 Orphanet:240085 Orphanet:99750 atypical progressive supranuclear palsy syndrome MONDO:0009841 PEHO syndrome MONDO:0024237 Orphanet:2836 Orphanet:183500 inherited neurodegenerative disorder MONDO:0009843 hypomyelinating leukodystrophy 3 MONDO:0017226 Orphanet:280293 Orphanet:280270 Pelizaeus-Merzbacher-like disease MONDO:0009848 dissecting cellulitis of the scalp MONDO:0019296 Orphanet:345 Orphanet:79382 subcutaneous tissue disorder MONDO:0009849 hyperimmunoglobulinemia D with periodic fever MONDO:0017708 Orphanet:343 Orphanet:309025 mevalonate kinase deficiency MONDO:0009852 hereditary intrinsic factor deficiency MONDO:0019220 Orphanet:332 Orphanet:79171 inborn disorder of cobalamin metabolism and transport MONDO:0009853 Imerslund-Grasbeck syndrome MONDO:0019220 Orphanet:35858 Orphanet:79171 inborn disorder of cobalamin metabolism and transport MONDO:0009855 d-bifunctional protein deficiency MONDO:0019233 Orphanet:300 Orphanet:79188 disorder of peroxisomal beta oxidation MONDO:0009856 Peters plus syndrome MONDO:0015159 Orphanet:709 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009856 Peters plus syndrome MONDO:0017747 Orphanet:709 Orphanet:309505 disorder of fucoglycosan synthesis MONDO:0009858 Pfeiffer-Palm-Teller syndrome MONDO:0015159 Orphanet:2871 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009859 PHAVER syndrome MONDO:0015161 Orphanet:2876 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009861 phenylketonuria MONDO:0017306 Orphanet:716 Orphanet:284814 disorder of phenylalanine metabolism MONDO:0009862 dihydropteridine reductase deficiency MONDO:0016543 Orphanet:226 Orphanet:238583 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0009863 BH4-deficient hyperphenylalaninemia A MONDO:0016543 Orphanet:13 Orphanet:238583 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO:0002412 Orphanet:97234 Orphanet:79201 disorder of glycogen metabolism MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO:0002412 Orphanet:439854 Orphanet:79201 disorder of glycogen metabolism MONDO:0009873 pilodental dysplasia-refractive errors syndrome MONDO:0019287 Orphanet:2892 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009874 Rabson-Mendenhall syndrome MONDO:0019280 Orphanet:769 Orphanet:79365 hypertrichosis MONDO:0009876 isolated growth hormone deficiency type IA MONDO:0000050 Orphanet:231662 Orphanet:631 isolated congenital growth hormone deficiency MONDO:0009877 Laron syndrome MONDO:0015892 Orphanet:633 Orphanet:181393 growth hormone insensitivity syndrome MONDO:0009879 short stature due to growth hormone qualitative anomaly MONDO:0000050 Orphanet:629 Orphanet:631 isolated congenital growth hormone deficiency MONDO:0009887 desquamative interstitial pneumonia MONDO:0002429 Orphanet:98852 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0009892 Chuvash polycythemia MONDO:0016540 Orphanet:238557 Orphanet:238536 congenital secondary polycythemia MONDO:0009897 adult polyglucosan body disease MONDO:0009292 Orphanet:206583 Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0009900 polysyndactyly-cardiac malformation syndrome MONDO:0015161 Orphanet:2934 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0017435 Orphanet:1234 Orphanet:294963 popliteal pterygium syndrome MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0019287 Orphanet:1234 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0043009 Orphanet:1234 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0009903 postaxial acrofacial dysostosis MONDO:0015161 Orphanet:246 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009903 postaxial acrofacial dysostosis MONDO:0018237 Orphanet:246 Orphanet:364574 acrofacial dysostosis MONDO:0009904 Gitelman syndrome MONDO:0015962 Orphanet:358 Orphanet:183592 inherited renal tubular disease MONDO:0009905 urban-Rogers-Meyer syndrome MONDO:0015159 Orphanet:3409 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0016543 Orphanet:1578 Orphanet:238583 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0015159 Orphanet:3455 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO:0020087 Orphanet:3455 Orphanet:98305 hereditary lipodystrophy MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive MONDO:0019161 Orphanet:171876 Orphanet:756 pseudohypoaldosteronism type 1 MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency MONDO:0019233 Orphanet:2971 Orphanet:79188 disorder of peroxisomal beta oxidation MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MONDO:0015159 Orphanet:2166 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009924 vitamin D-dependent rickets, type 1 MONDO:0017323 Orphanet:289157 Orphanet:289103 hypocalcemic rickets MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:0015161 Orphanet:2990 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009926 autosomal recessive multiple pterygium syndrome MONDO:0017415 Orphanet:2990 Orphanet:294060 multiple pterygium syndrome MONDO:0009931 pulmonary atresia-intact ventricular septum syndrome MONDO:0020291 Orphanet:1208 Orphanet:98723 hypoplastic right heart syndrome MONDO:0009940 pycnodysostosis MONDO:0002561 Orphanet:763 Orphanet:68366 lysosomal storage disease MONDO:0009940 pycnodysostosis MONDO:0017198 Orphanet:763 Orphanet:2781 osteopetrosis MONDO:0009945 pyridoxine-dependent epilepsy MONDO:0019237 Orphanet:3006 Orphanet:79192 inborn disorder of pyridoxine metabolism MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency MONDO:0019238 Orphanet:35120 Orphanet:79193 inborn disorder of pyrimidine metabolism MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria MONDO:0017909 Orphanet:289846 Orphanet:32 inherited glutathione synthetase deficiency MONDO:0009949 pyruvate carboxylase deficiency disease MONDO:0019225 Orphanet:3008 Orphanet:79177 disorder of gluconeogenesis MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO:0015159 Orphanet:3270 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0017570 Orphanet:99843 Orphanet:2968 leukocyte adhesion deficiency MONDO:0009953 leukocyte adhesion deficiency type II MONDO:0017749 Orphanet:99843 Orphanet:309526 disorder of multiple glycosylation MONDO:0009955 rapadilino syndrome MONDO:0015161 Orphanet:3021 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009963 Ulbright-Hodes syndrome MONDO:0015159 Orphanet:3404 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009965 Perlman syndrome MONDO:0019716 Orphanet:2849 Orphanet:93460 overgrowth syndrome MONDO:0009970 renal tubular dysgenesis of genetic origin MONDO:0017609 Orphanet:97369 Orphanet:3033 renal tubular dysgenesis MONDO:0009973 reticular dysgenesis MONDO:0017855 Orphanet:33355 Orphanet:317419 T-B- severe combined immunodeficiency MONDO:0009975 reticulum cell sarcoma MONDO:0020082 Orphanet:86900 Orphanet:98289 dendritic cell tumor MONDO:0009979 reticular dystrophy of the retinal pigment epithelium MONDO:0018973 Orphanet:99002 Orphanet:63454 patterned dystrophy of the retinal pigment epithelium MONDO:0009993 embryonal rhabdomyosarcoma MONDO:0005212 Orphanet:99757 Orphanet:780 rhabdomyosarcoma MONDO:0009994 alveolar rhabdomyosarcoma MONDO:0005212 Orphanet:99756 Orphanet:780 rhabdomyosarcoma MONDO:0009998 Richieri Costa-Pereira syndrome MONDO:0015161 Orphanet:3102 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009999 autosomal recessive Robinow syndrome MONDO:0019978 Orphanet:1507 Orphanet:97360 Robinow syndrome MONDO:0010001 ectodermal dysplasia-blindness syndrome MONDO:0019287 Orphanet:1806 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010002 Rothmund-Thomson syndrome MONDO:0015951 Orphanet:2909 Orphanet:183490 hereditary photodermatosis MONDO:0010005 saccharopinuria MONDO:0017351 Orphanet:3124 Orphanet:289832 inborn disorder of lysine and hydroxylysine metabolism MONDO:0010006 Sandhoff disease MONDO:0017720 Orphanet:796 Orphanet:309152 GM2 gangliosidosis MONDO:0010006 Sandhoff disease MONDO:0020143 Orphanet:796 Orphanet:98544 cerebral lipidosis with dementia MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO:0015159 Orphanet:2511 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010008 sarcosinemia MONDO:0019239 Orphanet:3129 Orphanet:79194 inborn disorder of serine family metabolism MONDO:0010010 Schinzel-Giedion syndrome MONDO:0019287 Orphanet:798 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010011 schizencephaly MONDO:0017103 Orphanet:799 Orphanet:269190 encephaloclastic disorder MONDO:0010012 autoimmune polyendocrinopathy type 2 MONDO:0017278 Orphanet:3143 Orphanet:282196 autoimmune polyendocrinopathy MONDO:0010017 sea-blue histiocyte syndrome MONDO:0015531 Orphanet:158029 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0010026 SHORT syndrome MONDO:0020087 Orphanet:3163 Orphanet:98305 hereditary lipodystrophy MONDO:0010027 free sialic acid storage disease, infantile form MONDO:0019366 Orphanet:309324 Orphanet:834 free sialic acid storage disease MONDO:0010027 free sialic acid storage disease, infantile form MONDO:0800088 Orphanet:309324 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0010028 sialuria MONDO:0017736 Orphanet:3166 Orphanet:309319 disorder of sialic acid metabolism MONDO:0010029 situs inversus MONDO:0018677 Orphanet:101063 Orphanet:450 visceral heterotaxy MONDO:0010033 generalized peeling skin syndrome MONDO:0019347 Orphanet:263543 Orphanet:817 peeling skin syndrome MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO:0015159 Orphanet:818 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010038 growth delay due to insulin-like growth factor I resistance MONDO:0015892 Orphanet:73273 Orphanet:181393 growth hormone insensitivity syndrome MONDO:0010039 congenital heart defect-round face-developmental delay syndrome MONDO:0015159 Orphanet:1355 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010041 Charlevoix-Saguenay spastic ataxia MONDO:0017847 Orphanet:98 Orphanet:316240 autosomal recessive spastic ataxia MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0015087 Orphanet:100998 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0010043 hereditary spastic paraplegia 17 MONDO:0015362 Orphanet:100998 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0010056 spinal muscular atrophy, type IV MONDO:0019079 Orphanet:83420 Orphanet:70 proximal spinal muscular atrophy MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0020046 Orphanet:1186 Orphanet:98098 autosomal recessive degenerative and progressive cerebellar ataxia MONDO:0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) MONDO:0100512 Orphanet:1186 Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0010062 spinocerebellar ataxia-dysmorphism syndrome MONDO:0100309 Orphanet:1185 Orphanet:183518 hereditary ataxia MONDO:0010064 spastic ataxia-corneal dystrophy syndrome MONDO:0017847 Orphanet:2572 Orphanet:316240 autosomal recessive spastic ataxia MONDO:0010078 spondyloperipheral dysplasia MONDO:0022800 Orphanet:1856 Orphanet:93421 type 2 collagenopathy MONDO:0010079 Canavan disease MONDO:0017686 Orphanet:141 Orphanet:308448 inborn aminoacylase deficiency MONDO:0010079 Canavan disease MONDO:0019046 Orphanet:141 Orphanet:68356 leukodystrophy MONDO:0010080 familial infantile bilateral striatal necrosis MONDO:0015518 Orphanet:225154 Orphanet:1576 infantile bilateral striatal necrosis MONDO:0010083 succinic semialdehyde dehydrogenase deficiency MONDO:0000698 Orphanet:22 Orphanet:79175 gamma-amino butyric acid metabolism disorder MONDO:0010088 mucosulfatidosis MONDO:0015327 Orphanet:585 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0010088 mucosulfatidosis MONDO:0019255 Orphanet:585 Orphanet:79225 sphingolipidosis MONDO:0010088 mucosulfatidosis MONDO:0800088 Orphanet:585 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0010089 isolated sulfite oxidase deficiency MONDO:0019358 Orphanet:99731 Orphanet:833 encephalopathy due to sulfite oxidase deficiency MONDO:0010092 Filippi syndrome MONDO:0015159 Orphanet:3255 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010094 spondylocarpotarsal synostosis syndrome MONDO:0019690 Orphanet:3275 Orphanet:93425 filamin-related bone disorder MONDO:0010094 spondylocarpotarsal synostosis syndrome MONDO:0019694 Orphanet:3275 Orphanet:93434 spondylodysplastic dysplasia MONDO:0010095 ataxia-tapetoretinal degeneration syndrome MONDO:0100309 Orphanet:1178 Orphanet:183518 hereditary ataxia MONDO:0010099 Tay-Sachs disease AB variant MONDO:0017720 Orphanet:309246 Orphanet:309152 GM2 gangliosidosis MONDO:0010100 Tay-Sachs disease MONDO:0017720 Orphanet:845 Orphanet:309152 GM2 gangliosidosis MONDO:0010100 Tay-Sachs disease MONDO:0020143 Orphanet:845 Orphanet:98544 cerebral lipidosis with dementia MONDO:0010101 Teebi-Shaltout syndrome MONDO:0019287 Orphanet:3291 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010108 testicular germ cell tumor MONDO:0018202 Orphanet:363504 Orphanet:363582 gonadal germ cell tumor MONDO:0010110 tetraamelia-multiple malformations syndrome MONDO:0015161 Orphanet:3301 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010111 odontotrichomelic syndrome MONDO:0019287 Orphanet:2723 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010115 thoracic dysplasia-hydrocephalus syndrome MONDO:0015929 Orphanet:1861 Orphanet:182108 thoracic malformation MONDO:0010116 thoracomelic dysplasia MONDO:0015929 Orphanet:1803 Orphanet:182108 thoracic malformation MONDO:0010116 thoracomelic dysplasia MONDO:0019691 Orphanet:1803 Orphanet:93426 short rib dysplasia MONDO:0010121 thrombocytopenia-absent radius syndrome MONDO:0018795 Orphanet:3320 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:0018896 Orphanet:93583 Orphanet:54057 thrombotic thrombocytopenic purpura MONDO:0010122 congenital thrombotic thrombocytopenic purpura MONDO:0021181 Orphanet:93583 Orphanet:183654 inherited blood coagulation disorder MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MONDO:0015159 Orphanet:2489 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010129 thymic-renal-anal-lung dysplasia MONDO:0015161 Orphanet:3326 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010130 dihydropyrimidine dehydrogenase deficiency MONDO:0019238 Orphanet:1675 Orphanet:79193 inborn disorder of pyrimidine metabolism MONDO:0010139 isolated thyroid-stimulating hormone deficiency MONDO:0016410 Orphanet:90674 Orphanet:226298 central congenital hypothyroidism MONDO:0010139 isolated thyroid-stimulating hormone deficiency MONDO:0019824 Orphanet:90674 Orphanet:95488 non-acquired pituitary hormone deficiency MONDO:0010140 isolated thyrotropin-releasing hormone deficiency MONDO:0016410 Orphanet:238670 Orphanet:226298 central congenital hypothyroidism MONDO:0010144 tibial hemimelia MONDO:0016240 Orphanet:93322 Orphanet:2130 hemimelia MONDO:0010149 transcobalamin II deficiency MONDO:0019220 Orphanet:859 Orphanet:79171 inborn disorder of cobalamin metabolism and transport MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MONDO:0019287 Orphanet:3363 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010153 trichoodontoonychial dysplasia MONDO:0019287 Orphanet:3355 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010154 trigonocephaly-bifid nose-acral anomalies syndrome MONDO:0015161 Orphanet:3368 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010155 Dorfman-Chanarin disease MONDO:0015611 Orphanet:98907 Orphanet:165 neutral lipid storage disease MONDO:0010167 urocanic aciduria MONDO:0019228 Orphanet:210128 Orphanet:79181 inborn disorder of histidine metabolism MONDO:0010168 Usher syndrome type 1 MONDO:0019501 Orphanet:231169 Orphanet:886 Usher syndrome MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 MONDO:0017771 Orphanet:247775 Orphanet:3109 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0010176 orofaciodigital syndrome type 6 MONDO:0015375 Orphanet:2754 Orphanet:140997 orofaciodigital syndrome MONDO:0010179 isolated right ventricular hypoplasia MONDO:0020291 Orphanet:439 Orphanet:98723 hypoplastic right heart syndrome MONDO:0010180 autosomal recessive spondylocostal dysostosis MONDO:0017747 Orphanet:2311 Orphanet:309505 disorder of fucoglycosan synthesis MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MONDO:0016826 Orphanet:79284 Orphanet:26 methylmalonic aciduria and homocystinuria MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0016826 Orphanet:79282 Orphanet:26 methylmalonic aciduria and homocystinuria MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:0016826 Orphanet:79283 Orphanet:26 methylmalonic aciduria and homocystinuria MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0020044 Orphanet:96 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia MONDO:0010191 von Willebrand disease 3 MONDO:0019565 Orphanet:166096 Orphanet:903 hereditary von Willebrand disease MONDO:0010196 Werner syndrome MONDO:0015333 Orphanet:902 Orphanet:139033 progeroid syndrome MONDO:0010199 white forelock with malformations MONDO:0015161 Orphanet:2475 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010200 Wilson disease MONDO:0017762 Orphanet:905 Orphanet:309839 disorder of copper metabolism MONDO:0010203 intellectual disability, Wolff type MONDO:0015159 Orphanet:3080 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010208 wrinkly skin syndrome MONDO:0018163 Orphanet:2834 Orphanet:357058 autosomal recessive cutis laxa type 2A MONDO:0010209 xanthinuria type I MONDO:0018106 Orphanet:93601 Orphanet:3467 hereditary xanthinuria MONDO:0010221 CHIME syndrome MONDO:0015159 Orphanet:3474 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010221 CHIME syndrome MONDO:0017748 Orphanet:3474 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0010221 CHIME syndrome MONDO:0019287 Orphanet:3474 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010225 Dent disease type 1 MONDO:0015612 Orphanet:93622 Orphanet:1652 Dent disease MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome MONDO:0015159 Orphanet:2898 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010237 X-linked intellectual disability-plagiocephaly syndrome MONDO:0015338 Orphanet:2898 Orphanet:139393 syndromic craniosynostosis MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation MONDO:0015146 Orphanet:2148 Orphanet:102009 classic lissencephaly MONDO:0010246 developmental and epileptic encephalopathy, 9 MONDO:0016160 Orphanet:101039 Orphanet:2076 X-linked intellectual disability-epilepsy syndrome MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO:0018544 Orphanet:139396 Orphanet:43 adrenoleukodystrophy MONDO:0010261 microphthalmia, syndromic 2 MONDO:0016073 Orphanet:2712 Orphanet:202948 syndromic microphthalmia MONDO:0010270 syndromic X-linked intellectual disability 7 MONDO:0015159 Orphanet:85274 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010271 X-linked myotubular myopathy-abnormal genitalia syndrome MONDO:0017007 Orphanet:456328 Orphanet:263756 partial deletion of the long arm of chromosome X MONDO:0010277 syndromic X-linked intellectual disability Shashi type MONDO:0015159 Orphanet:85286 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome MONDO:0019690 Orphanet:88630 Orphanet:93425 filamin-related bone disorder MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome MONDO:0019695 Orphanet:88630 Orphanet:93436 acromelic dysplasia MONDO:0010281 Danon disease MONDO:0002412 Orphanet:34587 Orphanet:79201 disorder of glycogen metabolism MONDO:0010281 Danon disease MONDO:0017738 Orphanet:34587 Orphanet:309337 lysosomal glycogen storage disease MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:0015159 Orphanet:1762 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010283 syndromic X-linked intellectual disability Lubs type MONDO:0017010 Orphanet:1762 Orphanet:263783 partial duplication of the long arm of chromosome X MONDO:0010285 syndromic X-linked intellectual disability Abidi type MONDO:0015159 Orphanet:85273 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010286 syndromic X-linked intellectual disability Siderius type MONDO:0015159 Orphanet:85287 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010294 X-linked severe congenital neutropenia MONDO:0018542 Orphanet:86788 Orphanet:42738 severe congenital neutropenia MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO:0017198 Orphanet:69088 Orphanet:2781 osteopetrosis MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO:0019287 Orphanet:69088 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010298 Lesch-Nyhan syndrome MONDO:0016088 Orphanet:510 Orphanet:206428 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency MONDO:0016088 Orphanet:79233 Orphanet:206428 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0010305 creatine transporter deficiency MONDO:0000456 Orphanet:52503 Orphanet:79172 cerebral creatine deficiency syndrome MONDO:0010305 creatine transporter deficiency MONDO:0015159 Orphanet:52503 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010306 X-linked intellectual disability, Cabezas type MONDO:0015159 Orphanet:85293 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010310 osteopathia striata with cranial sclerosis MONDO:0017198 Orphanet:2780 Orphanet:2781 osteopetrosis MONDO:0010315 T-B+ severe combined immunodeficiency due to gamma chain deficiency MONDO:0044200 Orphanet:276 Orphanet:317416 T-B+ severe combined immunodeficiency MONDO:0010319 syndromic X-linked intellectual disability Hedera type MONDO:0016160 Orphanet:93952 Orphanet:2076 X-linked intellectual disability-epilepsy syndrome MONDO:0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome MONDO:0015159 Orphanet:85280 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010336 orofaciodigital syndrome VIII MONDO:0015375 Orphanet:2755 Orphanet:140997 orofaciodigital syndrome MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0015159 Orphanet:85279 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis MONDO:0015962 Orphanet:93606 Orphanet:183592 inherited renal tubular disease MONDO:0010359 Dent disease type 2 MONDO:0015612 Orphanet:93623 Orphanet:1652 Dent disease MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome MONDO:0017004 Orphanet:85332 Orphanet:263731 partial monosomy of the short arm of chromosome X MONDO:0010375 developmental and epileptic encephalopathy, 8 MONDO:0016160 Orphanet:163985 Orphanet:2076 X-linked intellectual disability-epilepsy syndrome MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss MONDO:0015364 Orphanet:139583 Orphanet:140471 hereditary sensory and autonomic neuropathy MONDO:0010379 Brunner syndrome MONDO:0019219 Orphanet:3057 Orphanet:79169 inborn disorder of neurotransmitter metabolism and transport MONDO:0010382 fragile X-associated tremor/ataxia syndrome MONDO:0016612 Orphanet:93256 Orphanet:247765 X-linked cerebellar ataxia MONDO:0010385 X-linked lymphoproliferative disease due to XIAP deficiency MONDO:0010627 Orphanet:538934 Orphanet:2442 X-linked lymphoproliferative syndrome MONDO:0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MONDO:0017905 Orphanet:319623 Orphanet:319605 X-linked Mendelian susceptibility to mycobacterial diseases MONDO:0010390 ocular albinism with late-onset sensorineural deafness MONDO:0017304 Orphanet:1000 Orphanet:284804 ocular albinism MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency MONDO:0002412 Orphanet:713 Orphanet:79201 disorder of glycogen metabolism MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO:0019236 Orphanet:3222 Orphanet:79191 inborn disorder of purine metabolism MONDO:0010396 developmental and epileptic encephalopathy, 2 MONDO:0015653 Orphanet:505652 Orphanet:166472 monogenic epilepsy MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly MONDO:0015653 Orphanet:209370 Orphanet:166472 monogenic epilepsy MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly MONDO:0020070 Orphanet:209370 Orphanet:98257 neonatal epilepsy syndrome MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0010613 Orphanet:261476 Orphanet:308993 inborn glycerol kinase deficiency MONDO:0010399 chromosome Xp21 deletion syndrome MONDO:0017004 Orphanet:261476 Orphanet:263731 partial monosomy of the short arm of chromosome X MONDO:0010403 albinism-hearing loss syndrome MONDO:0019290 Orphanet:998 Orphanet:79376 hypopigmentation of the skin MONDO:0010404 X-linked non progressive cerebellar ataxia MONDO:0016612 Orphanet:314978 Orphanet:247765 X-linked cerebellar ataxia MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0015161 Orphanet:140952 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:0001676 Orphanet:443197 Orphanet:659681 erythropoietic protoporphyria MONDO:0010421 Bruton-type agammaglobulinemia MONDO:0016462 Orphanet:47 Orphanet:229717 isolated agammaglobulinemia MONDO:0010425 Lisch epithelial corneal dystrophy MONDO:0020212 Orphanet:98955 Orphanet:98625 superficial corneal dystrophy MONDO:0010426 X-linked endothelial corneal dystrophy MONDO:0020214 Orphanet:293621 Orphanet:98627 posterior corneal dystrophy MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0015159 Orphanet:217377 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0017009 Orphanet:217377 Orphanet:263775 partial duplication of the short arm of chromosome X MONDO:0010434 synovial sarcoma MONDO:0018078 Orphanet:3273 Orphanet:3394 soft tissue sarcoma MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO:0019403 Orphanet:363727 Orphanet:85 congenital dyserythropoietic anemia MONDO:0010457 Ogden syndrome MONDO:0015333 Orphanet:276432 Orphanet:139033 progeroid syndrome MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0017748 Orphanet:300496 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0010467 Xq27.3q28 duplication syndrome MONDO:0017010 Orphanet:261483 Orphanet:263783 partial duplication of the long arm of chromosome X MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0017740 Orphanet:324422 Orphanet:309347 disorder of protein N-glycosylation MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO:0016410 Orphanet:329235 Orphanet:226298 central congenital hypothyroidism MONDO:0010476 neurodegeneration with brain iron accumulation 5 MONDO:0018307 Orphanet:329284 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0010478 SLC35A2-congenital disorder of glycosylation MONDO:0017749 Orphanet:356961 Orphanet:309526 disorder of multiple glycosylation MONDO:0010479 Charcot-Marie-Tooth disease X-linked dominant 6 MONDO:0018994 Orphanet:352675 Orphanet:64747 Charcot-Marie-Tooth disease type X MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0015159 Orphanet:431140 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO:0016073 Orphanet:431140 Orphanet:202948 syndromic microphthalmia MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0015159 Orphanet:370927 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010490 SSR4-congenital disorder of glycosylation MONDO:0017740 Orphanet:370927 Orphanet:309347 disorder of protein N-glycosylation MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO:0015159 Orphanet:457240 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010498 MEND syndrome MONDO:0019240 Orphanet:401973 Orphanet:79195 sterol biosynthesis disorder MONDO:0010501 syndromic X-linked intellectual disability 34 MONDO:0015159 Orphanet:466791 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010503 Bartter disease type 5 MONDO:0015231 Orphanet:570371 Orphanet:112 Bartter syndrome MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MONDO:0015159 Orphanet:3041 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MONDO:0019695 Orphanet:3041 Orphanet:93436 acromelic dysplasia MONDO:0010507 Xq25 microduplication syndrome MONDO:0017010 Orphanet:521258 Orphanet:263783 partial duplication of the long arm of chromosome X MONDO:0010520 X-linked Alport syndrome MONDO:0018965 Orphanet:88917 Orphanet:63 Alport syndrome MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0957408 Orphanet:85453 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0010524 X-linked sideroblastic anemia with ataxia MONDO:0016612 Orphanet:2802 Orphanet:247765 X-linked cerebellar ataxia MONDO:0010524 X-linked sideroblastic anemia with ataxia MONDO:0020099 Orphanet:2802 Orphanet:98362 inherited sideroblastic anemia MONDO:0010526 Fabry disease MONDO:0015327 Orphanet:324 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0010526 Fabry disease MONDO:0019255 Orphanet:324 Orphanet:79225 sphingolipidosis MONDO:0010529 X-linked spinocerebellar ataxia type 3 MONDO:0016612 Orphanet:85297 Orphanet:247765 X-linked cerebellar ataxia MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:0019287 Orphanet:1484 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MONDO:0015168 Orphanet:1145 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0010534 X-linked spinocerebellar ataxia type 4 MONDO:0016612 Orphanet:85292 Orphanet:247765 X-linked cerebellar ataxia MONDO:0010543 Barth syndrome MONDO:0009637 Orphanet:111 Orphanet:206966 inborn mitochondrial myopathy MONDO:0010543 Barth syndrome MONDO:0017359 Orphanet:111 Orphanet:289902 3-methylglutaconic aciduria MONDO:0010547 X-linked progressive cerebellar ataxia MONDO:0016612 Orphanet:1175 Orphanet:247765 X-linked cerebellar ataxia MONDO:0010549 Charcot-Marie-Tooth disease X-linked dominant 1 MONDO:0018994 Orphanet:101075 Orphanet:64747 Charcot-Marie-Tooth disease type X MONDO:0010550 Charcot-Marie-Tooth disease X-linked recessive 2 MONDO:0018994 Orphanet:101076 Orphanet:64747 Charcot-Marie-Tooth disease type X MONDO:0010551 Charcot-Marie-Tooth disease X-linked recessive 3 MONDO:0018994 Orphanet:101077 Orphanet:64747 Charcot-Marie-Tooth disease type X MONDO:0010554 Abruzzo-Erickson syndrome MONDO:0015161 Orphanet:921 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010559 MASA syndrome MONDO:0017140 Orphanet:2466 Orphanet:275543 L1 syndrome MONDO:0010569 X-linked complicated corpus callosum dysgenesis MONDO:0017140 Orphanet:1497 Orphanet:275543 L1 syndrome MONDO:0010572 occipital horn syndrome MONDO:0017762 Orphanet:198 Orphanet:309839 disorder of copper metabolism MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0015159 Orphanet:1568 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010574 syndromic X-linked intellectual disability 5 MONDO:0015159 Orphanet:85329 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010578 deafness dystonia syndrome MONDO:0024237 Orphanet:52368 Orphanet:183500 inherited neurodegenerative disorder MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0015126 Orphanet:37042 Orphanet:101956 polyendocrinopathy MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia MONDO:0016535 Orphanet:181 Orphanet:238468 hypohidrotic ectodermal dysplasia MONDO:0010586 X-linked Ehlers-Danlos syndrome MONDO:0020066 Orphanet:75497 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0010591 fingerprint body myopathy MONDO:0019952 Orphanet:97232 Orphanet:97245 congenital myopathy MONDO:0010602 hemophilia A MONDO:0018660 Orphanet:98878 Orphanet:448 hemophilia MONDO:0010604 hemophilia B MONDO:0018660 Orphanet:98879 Orphanet:448 hemophilia MONDO:0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius MONDO:0017140 Orphanet:2182 Orphanet:275543 L1 syndrome MONDO:0010614 X-linked congenital generalized hypertrichosis MONDO:0016381 Orphanet:79495 Orphanet:2222 hypertrichosis lanuginosa congenita MONDO:0010615 isolated growth hormone deficiency type III MONDO:0000050 Orphanet:231692 Orphanet:631 isolated congenital growth hormone deficiency MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO:0015159 Orphanet:2234 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010621 CHILD syndrome MONDO:0015161 Orphanet:139 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010621 CHILD syndrome MONDO:0017269 Orphanet:139 Orphanet:281210 X-linked ichthyosis syndrome MONDO:0010621 CHILD syndrome MONDO:0019240 Orphanet:139 Orphanet:79195 sterol biosynthesis disorder MONDO:0010621 CHILD syndrome MONDO:0019701 Orphanet:139 Orphanet:93442 chondrodysplasia punctata MONDO:0010631 incontinentia pigmenti MONDO:0019287 Orphanet:464 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome MONDO:0017007 Orphanet:1018 Orphanet:263756 partial deletion of the long arm of chromosome X MONDO:0010645 oculocerebrorenal syndrome MONDO:0015962 Orphanet:534 Orphanet:183592 inherited renal tubular disease MONDO:0010645 oculocerebrorenal syndrome MONDO:0019216 Orphanet:534 Orphanet:79166 inborn disorder of amino acid transport MONDO:0010650 Melnick-Needles syndrome MONDO:0018233 Orphanet:2484 Orphanet:364541 otopalatodigital syndrome spectrum disorder MONDO:0010651 Menkes disease MONDO:0017762 Orphanet:565 Orphanet:309839 disorder of copper metabolism MONDO:0010655 X-linked intellectual disability with marfanoid habitus MONDO:0015159 Orphanet:776 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO:0016826 Orphanet:369962 Orphanet:26 methylmalonic aciduria and homocystinuria MONDO:0010668 skeletal dysplasia-intellectual disability syndrome MONDO:0019694 Orphanet:1436 Orphanet:93434 spondylodysplastic dysplasia MONDO:0010669 syndactyly type 8 MONDO:0019530 Orphanet:2498 Orphanet:90025 non-syndromic syndactyly MONDO:0010671 microphthalmia, syndromic 1 MONDO:0016073 Orphanet:85275 Orphanet:202948 syndromic microphthalmia MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0016073 Orphanet:2556 Orphanet:202948 syndromic microphthalmia MONDO:0010672 linear skin defects with multiple congenital anomalies MONDO:0019294 Orphanet:2556 Orphanet:79380 mixed dermis disorder MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0019249 Orphanet:580 Orphanet:79213 mucopolysaccharidosis MONDO:0010674 mucopolysaccharidosis type 2 MONDO:0800088 Orphanet:580 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy MONDO:0016830 Orphanet:98863 Orphanet:261 Emery-Dreifuss muscular dystrophy MONDO:0010683 X-linked myotubular myopathy MONDO:0018947 Orphanet:596 Orphanet:595 centronuclear myopathy MONDO:0010684 X-linked myopathy with excessive autophagy MONDO:0016106 Orphanet:25980 Orphanet:206644 progressive muscular dystrophy MONDO:0010684 X-linked myopathy with excessive autophagy MONDO:0016112 Orphanet:25980 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0010686 N syndrome MONDO:0015159 Orphanet:2608 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0018994 Orphanet:101078 Orphanet:64747 Charcot-Marie-Tooth disease type X MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0018994 Orphanet:99014 Orphanet:64747 Charcot-Marie-Tooth disease type X MONDO:0010699 Charcot-Marie-Tooth disease X-linked recessive 5 MONDO:0019236 Orphanet:99014 Orphanet:79191 inborn disorder of purine metabolism MONDO:0010706 premature ovarian failure 1 MONDO:0019852 Orphanet:642691 Orphanet:95710 inherited primary ovarian failure MONDO:0010714 Pelizeaus-Merzbacher spectrum disorder MONDO:0019046 Orphanet:702 Orphanet:68356 leukodystrophy MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency MONDO:0019169 Orphanet:79243 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0010720 partial androgen insensitivity syndrome MONDO:0019154 Orphanet:90797 Orphanet:754 androgen insensitivity syndrome MONDO:0010731 Simpson-Golabi-Behmel syndrome MONDO:0019716 Orphanet:373 Orphanet:93460 overgrowth syndrome MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0019046 Orphanet:99015 Orphanet:68356 leukodystrophy MONDO:0010735 Kennedy disease MONDO:0024237 Orphanet:481 Orphanet:183500 inherited neurodegenerative disorder MONDO:0010738 spondylometaphyseal dysplasia, Golden type MONDO:0016763 Orphanet:168544 Orphanet:254 spondylometaphyseal dysplasia MONDO:0010742 pentalogy of Cantrell MONDO:0015161 Orphanet:1335 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010788 Leber hereditary optic neuropathy MONDO:0020249 Orphanet:104 Orphanet:98671 hereditary optic neuropathy MONDO:0010790 MERRF syndrome MONDO:0020074 Orphanet:551 Orphanet:98261 progressive myoclonus epilepsy MONDO:0010801 spondylocamptodactyly syndrome MONDO:0019694 Orphanet:3180 Orphanet:93434 spondylodysplastic dysplasia MONDO:0010805 bladder exstrophy MONDO:0017919 Orphanet:93930 Orphanet:322 exstrophy-epispadias complex MONDO:0010821 familial developmental dysphasia MONDO:0016226 Orphanet:1799 Orphanet:211053 specific language disorder MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO:0015776 Orphanet:309803 Orphanet:177 rhizomelic chondrodysplasia punctata MONDO:0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0015161 Orphanet:1352 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010831 familial caudal dysgenesis MONDO:0018639 Orphanet:1768 Orphanet:444941 caudal regression-sirenomelia spectrum MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome MONDO:0015159 Orphanet:2988 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 MONDO:0015362 Orphanet:1216 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0010847 spinocerebellar ataxia type 4 MONDO:0019792 Orphanet:98765 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0010848 spinocerebellar ataxia type 5 MONDO:0019793 Orphanet:98766 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0010851 Lowry-MacLean syndrome MONDO:0015159 Orphanet:2409 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010851 Lowry-MacLean syndrome MONDO:0015338 Orphanet:2409 Orphanet:139393 syndromic craniosynostosis MONDO:0010854 Toriello-Lacassie-Droste syndrome MONDO:0019287 Orphanet:3339 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010855 short tarsus-absence of lower eyelashes syndrome MONDO:0015161 Orphanet:2832 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0016894 Orphanet:88924 Orphanet:261956 partial deletion of the short arm of chromosome 16 MONDO:0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0019741 Orphanet:88924 Orphanet:93587 familial cystic renal disease MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:0015159 Orphanet:2429 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010865 pseudoaminopterin syndrome MONDO:0015159 Orphanet:221120 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010866 infantile osteopetrosis with neuroaxonal dysplasia MONDO:0017198 Orphanet:85179 Orphanet:2781 osteopetrosis MONDO:0010867 PARC syndrome MONDO:0015161 Orphanet:2825 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010870 tibial muscular dystrophy MONDO:0016108 Orphanet:609 Orphanet:206650 autosomal dominant distal myopathy MONDO:0010879 CODAS syndrome MONDO:0015161 Orphanet:1458 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010881 mesomelia-synostoses syndrome MONDO:0016907 Orphanet:2496 Orphanet:262065 partial deletion of the long arm of chromosome 8 MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome MONDO:0015161 Orphanet:2835 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010886 2q37 microdeletion syndrome MONDO:0016901 Orphanet:1001 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0010887 isolated anterior cervical hypertrichosis MONDO:0019280 Orphanet:3387 Orphanet:79365 hypertrichosis MONDO:0010890 acrocardiofacial syndrome MONDO:0015159 Orphanet:2008 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010898 autosomal dominant epilepsy with auditory features MONDO:0017704 Orphanet:101046 Orphanet:309 familial partial epilepsy MONDO:0010907 familial hypertryptophanemia MONDO:0017350 Orphanet:2224 Orphanet:289829 inborn disorder of tryptophan metabolism MONDO:0010908 loose anagen syndrome MONDO:0004907 Orphanet:168 Orphanet:79364 alopecia MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form MONDO:0015515 Orphanet:228305 Orphanet:157 carnitine palmitoyltransferase II deficiency MONDO:0010922 Satoyoshi syndrome MONDO:0004907 Orphanet:3130 Orphanet:79364 alopecia MONDO:0010922 Satoyoshi syndrome MONDO:0019852 Orphanet:3130 Orphanet:95710 inherited primary ovarian failure MONDO:0010924 D-2-hydroxyglutaric aciduria MONDO:0016001 Orphanet:79315 Orphanet:19 2-hydroxyglutaric aciduria MONDO:0010925 velo-facial-skeletal syndrome MONDO:0015161 Orphanet:3424 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010926 familial hypocalciuric hypercalcemia 3 MONDO:0018458 Orphanet:101050 Orphanet:405 familial hypocalciuric hypercalcemia MONDO:0010930 anophthalmia plus syndrome MONDO:0015161 Orphanet:1104 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency MONDO:0044200 Orphanet:35078 Orphanet:317416 T-B+ severe combined immunodeficiency MONDO:0010949 Charcot-Marie-Tooth disease type 2B MONDO:0018993 Orphanet:99936 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0010959 van den Ende-Gupta syndrome MONDO:0015161 Orphanet:2460 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010959 van den Ende-Gupta syndrome MONDO:0015168 Orphanet:2460 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0010966 achondrogenesis type IB MONDO:0019648 Orphanet:93298 Orphanet:932 achondrogenesis MONDO:0010977 Brody myopathy MONDO:0016199 Orphanet:53347 Orphanet:209199 qualitative or quantitative defects of protein SERCA1 MONDO:0010979 Timothy syndrome MONDO:0019171 Orphanet:65283 Orphanet:768 familial long QT syndrome MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MONDO:0015161 Orphanet:3328 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010983 dystonia 9 MONDO:0016058 Orphanet:53583 Orphanet:200037 paroxysmal dystonia MONDO:0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 MONDO:0017771 Orphanet:2578 Orphanet:3109 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0010993 Harrod syndrome MONDO:0015159 Orphanet:2115 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010995 Charcot-Marie-Tooth disease type 1C MONDO:0019011 Orphanet:101083 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0010997 supranuclear palsy, progressive, 1 MONDO:0019037 Orphanet:240071 Orphanet:683 progressive supranuclear palsy MONDO:0010998 ALG3-congenital disorder of glycosylation MONDO:0017740 Orphanet:79321 Orphanet:309347 disorder of protein N-glycosylation MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome MONDO:0015159 Orphanet:3304 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome MONDO:0015148 Orphanet:86822 Orphanet:102011 lissencephaly type 3 MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome MONDO:0015161 Orphanet:2141 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome MONDO:0015161 Orphanet:2001 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011010 Matthew-Wood syndrome MONDO:0015161 Orphanet:2470 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011010 Matthew-Wood syndrome MONDO:0015929 Orphanet:2470 Orphanet:182108 thoracic malformation MONDO:0011010 Matthew-Wood syndrome MONDO:0016073 Orphanet:2470 Orphanet:202948 syndromic microphthalmia MONDO:0011017 Naxos disease MONDO:0016587 Orphanet:34217 Orphanet:247 arrhythmogenic right ventricular cardiomyopathy MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO:0004907 Orphanet:1014 Orphanet:79364 alopecia MONDO:0011022 Potocki-Shaffer syndrome MONDO:0016893 Orphanet:52022 Orphanet:261947 partial deletion of the short arm of chromosome 11 MONDO:0011023 hereditary mixed polyposis syndrome MONDO:0015185 Orphanet:157794 Orphanet:104010 intestinal polyposis syndrome MONDO:0011025 Cayman type cerebellar ataxia MONDO:0020043 Orphanet:94122 Orphanet:98095 autosomal recessive congenital cerebellar ataxia MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F MONDO:0015152 Orphanet:219 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F MONDO:0016144 Orphanet:219 Orphanet:207070 qualitative or quantitative defects of delta-sarcoglycan MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0019792 Orphanet:1171 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011041 ectodermal dysplasia with natal teeth, Turnpenny type MONDO:0019287 Orphanet:69083 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011045 MMEP syndrome MONDO:0015159 Orphanet:3434 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011045 MMEP syndrome MONDO:0016073 Orphanet:3434 Orphanet:202948 syndromic microphthalmia MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome MONDO:0015159 Orphanet:1948 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011049 Fine-Lubinsky syndrome MONDO:0015159 Orphanet:1272 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011050 microcephaly-cardiac defect-lung malsegmentation syndrome MONDO:0015161 Orphanet:2516 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011051 lethal short-limb skeletal dysplasia, Al Gazali type MONDO:0016357 Orphanet:646136 Orphanet:646139 dysplastic cortical hyperostosis MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO:0015159 Orphanet:3051 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011055 distal monosomy 10p MONDO:0016892 Orphanet:1580 Orphanet:261938 partial deletion of the short arm of chromosome 10 MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MONDO:0015338 Orphanet:2163 Orphanet:139393 syndromic craniosynostosis MONDO:0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type MONDO:0019287 Orphanet:1808 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011066 Charcot-Marie-Tooth disease type 4B1 MONDO:0018995 Orphanet:99955 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0011076 myofibrillar myopathy 1 MONDO:0016187 Orphanet:98909 Orphanet:209041 qualitative or quantitative defects of desmin MONDO:0011076 myofibrillar myopathy 1 MONDO:0018943 Orphanet:98909 Orphanet:593 myofibrillar myopathy MONDO:0011081 dislocation of the hip-dysmorphism syndrome MONDO:0015161 Orphanet:2412 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011082 oculoauriculofrontonasal syndrome MONDO:0016643 Orphanet:398156 Orphanet:250 frontonasal dysplasia MONDO:0011083 trichodental syndrome MONDO:0019287 Orphanet:3351 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011085 Charcot-Marie-Tooth disease type 4D MONDO:0018995 Orphanet:99950 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive MONDO:0017855 Orphanet:331206 Orphanet:317419 T-B- severe combined immunodeficiency MONDO:0011091 Charcot-Marie-Tooth disease type 2D MONDO:0018993 Orphanet:99938 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0019249 Orphanet:67041 Orphanet:79213 mucopolysaccharidosis MONDO:0011096 autosomal agammaglobulinemia MONDO:0016462 Orphanet:33110 Orphanet:229717 isolated agammaglobulinemia MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO:0019287 Orphanet:1573 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011109 multiple epiphyseal dysplasia, Lowry type MONDO:0016648 Orphanet:166016 Orphanet:251 multiple epiphyseal dysplasia MONDO:0011113 Charcot-Marie-Tooth disease type 4C MONDO:0018995 Orphanet:99949 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0011114 familial multiple trichoepithelioma MONDO:0011512 Orphanet:867 Orphanet:79493 Brooke-Spiegler syndrome MONDO:0011119 iridogoniodysgenesis MONDO:0019503 Orphanet:98634 Orphanet:88632 anterior segment dysgenesis MONDO:0011128 Sheldon-hall syndrome MONDO:0019942 Orphanet:1147 Orphanet:97120 distal arthrogryposis MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:0019290 Orphanet:3214 Orphanet:79376 hypopigmentation of the skin MONDO:0011134 Curry-Jones syndrome MONDO:0015338 Orphanet:1553 Orphanet:139393 syndromic craniosynostosis MONDO:0011136 Quebec platelet disorder MONDO:0020117 Orphanet:220436 Orphanet:98455 alpha granule disease MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0019942 Orphanet:2953 Orphanet:97120 distal arthrogryposis MONDO:0011142 Ehlers-Danlos syndrome, musculocontractural type MONDO:0020066 Orphanet:2953 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0015159 Orphanet:363741 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011146 tetrasomy 12p MONDO:0016933 Orphanet:884 Orphanet:262658 partial trisomy/tetrasomy of the short arm of chromosome 12 MONDO:0011147 chromosome 18q deletion syndrome MONDO:0016880 Orphanet:262146 Orphanet:261836 partial deletion of chromosome 18 MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:0019303 Orphanet:363665 Orphanet:79389 premature aging syndrome MONDO:0011154 acrofacial dysostosis, Palagonia type MONDO:0018237 Orphanet:1787 Orphanet:364574 acrofacial dysostosis MONDO:0011156 progressive familial intrahepatic cholestasis type 2 MONDO:0015762 Orphanet:79304 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G MONDO:0015152 Orphanet:34514 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0011170 autosomal recessive limb-girdle muscular dystrophy type 2G MONDO:0016192 Orphanet:34514 Orphanet:209056 qualitative or quantitative defects of telethonin MONDO:0011171 odonto-tricho-ungual-digito-palmar syndrome MONDO:0019287 Orphanet:69082 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011174 hyperzincemia with functional zinc depletion MONDO:0017764 Orphanet:251523 Orphanet:309845 disorder of zinc metabolism MONDO:0011178 infantile convulsions and choreoathetosis MONDO:0015427 Orphanet:31709 Orphanet:1431 paroxysmal dyskinesia MONDO:0011178 infantile convulsions and choreoathetosis MONDO:0015642 Orphanet:31709 Orphanet:166311 benign partial infantile seizures MONDO:0011184 childhood apraxia of speech MONDO:0016226 Orphanet:209908 Orphanet:211053 specific language disorder MONDO:0011185 Thiel-Behnke corneal dystrophy MONDO:0020212 Orphanet:98960 Orphanet:98625 superficial corneal dystrophy MONDO:0011190 nephronophthisis 2 MONDO:0019005 Orphanet:93591 Orphanet:655 nephronophthisis MONDO:0011211 axial spondylometaphyseal dysplasia MONDO:0016763 Orphanet:168549 Orphanet:254 spondylometaphyseal dysplasia MONDO:0011213 Pierpont syndrome MONDO:0015159 Orphanet:487825 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011214 progressive familial intrahepatic cholestasis type 3 MONDO:0015762 Orphanet:79305 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0011217 desmosterolosis MONDO:0019702 Orphanet:35107 Orphanet:93443 neonatal osteosclerotic dysplasia MONDO:0011219 Fried's tooth and nail syndrome MONDO:0019287 Orphanet:99672 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011224 monomelic amyotrophy MONDO:0020129 Orphanet:65684 Orphanet:98506 acquired motor neuron disease MONDO:0011225 severe combined immunodeficiency due to DCLRE1C deficiency MONDO:0017855 Orphanet:275 Orphanet:317419 T-B- severe combined immunodeficiency MONDO:0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome MONDO:0015161 Orphanet:397623 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011236 hyperinsulinism due to glucokinase deficiency MONDO:0015624 Orphanet:79299 Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism MONDO:0011236 hyperinsulinism due to glucokinase deficiency MONDO:0017688 Orphanet:79299 Orphanet:308459 disorder of glycolysis MONDO:0011243 grange syndrome MONDO:0015161 Orphanet:79094 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011244 Marshall-Smith syndrome MONDO:0019716 Orphanet:561 Orphanet:93460 overgrowth syndrome MONDO:0011246 megaconial type congenital muscular dystrophy MONDO:0019950 Orphanet:280671 Orphanet:97242 congenital muscular dystrophy MONDO:0011248 distal monosomy 13q MONDO:0016911 Orphanet:1590 Orphanet:262101 partial deletion of the long arm of chromosome 13 MONDO:0011253 craniomicromelic syndrome MONDO:0015338 Orphanet:1524 Orphanet:139393 syndromic craniosynostosis MONDO:0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome MONDO:0015483 Orphanet:357158 Orphanet:155899 mandibulofacial dysostosis MONDO:0011257 MPI-congenital disorder of glycosylation MONDO:0017740 Orphanet:79319 Orphanet:309347 disorder of protein N-glycosylation MONDO:0011262 camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye MONDO:0015161 Orphanet:1323 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011264 torsion dystonia 6 MONDO:0000476 Orphanet:98806 Orphanet:376724 generalized dystonia MONDO:0011266 myotonic dystrophy type 2 MONDO:0016107 Orphanet:606 Orphanet:206647 myotonic dystrophy MONDO:0011273 H syndrome MONDO:0019289 Orphanet:168569 Orphanet:79375 hyperpigmentation of the skin MONDO:0011274 Muenke syndrome MONDO:0015338 Orphanet:53271 Orphanet:139393 syndromic craniosynostosis MONDO:0011275 acromesomelic dysplasia 1, Maroteaux type MONDO:0019696 Orphanet:40 Orphanet:93437 acromesomelic dysplasia MONDO:0011287 craniosynostosis-anal anomalies-porokeratosis syndrome MONDO:0015338 Orphanet:85199 Orphanet:139393 syndromic craniosynostosis MONDO:0011291 ALG6-congenital disorder of glycosylation 1C MONDO:0017740 Orphanet:79320 Orphanet:309347 disorder of protein N-glycosylation MONDO:0011323 arhinia, choanal atresia, and microphthalmia MONDO:0015161 Orphanet:2250 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011327 neuronal intranuclear inclusion disease MONDO:0024237 Orphanet:2289 Orphanet:183500 inherited neurodegenerative disorder MONDO:0011330 spinocerebellar ataxia type 10 MONDO:0019794 Orphanet:98761 Orphanet:94149 autosomal dominant cerebellar ataxia type IV MONDO:0011342 SLC35A1-congenital disorder of glycosylation MONDO:0017749 Orphanet:238459 Orphanet:309526 disorder of multiple glycosylation MONDO:0011346 xanthinuria type II MONDO:0018106 Orphanet:93602 Orphanet:3467 hereditary xanthinuria MONDO:0011359 acromelic frontonasal dysostosis MONDO:0016643 Orphanet:1827 Orphanet:250 frontonasal dysplasia MONDO:0011359 acromelic frontonasal dysostosis MONDO:0018237 Orphanet:1827 Orphanet:364574 acrofacial dysostosis MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure MONDO:0016106 Orphanet:178464 Orphanet:206644 progressive muscular dystrophy MONDO:0011362 myopathy, myofibrillar, 9, with early respiratory failure MONDO:0016112 Orphanet:178464 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0011381 dominant beta-thalassemia MONDO:0019402 Orphanet:231226 Orphanet:848 beta thalassemia MONDO:0011391 megalencephalic leukoencephalopathy with subcortical cysts MONDO:0019046 Orphanet:2478 Orphanet:68356 leukodystrophy MONDO:0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy MONDO:0019792 Orphanet:314404 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011398 dystrophic epidermolysis bullosa pruriginosa MONDO:0006543 Orphanet:89843 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0015159 Orphanet:48431 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome MONDO:0020046 Orphanet:48431 Orphanet:98098 autosomal recessive degenerative and progressive cerebellar ataxia MONDO:0011405 poikiloderma with neutropenia MONDO:0016382 Orphanet:221046 Orphanet:222628 hereditary poikiloderma MONDO:0011412 familial encephalopathy with neuroserpin inclusion bodies MONDO:0020074 Orphanet:85110 Orphanet:98261 progressive myoclonus epilepsy MONDO:0011420 short stature due to partial GHR deficiency MONDO:0015892 Orphanet:314802 Orphanet:181393 growth hormone insensitivity syndrome MONDO:0011422 autosomal recessive proximal renal tubular acidosis MONDO:0008369 Orphanet:93607 Orphanet:47159 proximal renal tubular acidosis MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0015152 Orphanet:119 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0011423 autosomal recessive limb-girdle muscular dystrophy type 2E MONDO:0016142 Orphanet:119 Orphanet:207063 qualitative or quantitative defects of beta-sarcoglycan MONDO:0011424 Carney triad MONDO:0015079 Orphanet:139411 Orphanet:100094 multiple polyglandular tumor MONDO:0011426 aceruloplasminemia MONDO:0017763 Orphanet:48818 Orphanet:309842 disorder of iron metabolism and transport MONDO:0011426 aceruloplasminemia MONDO:0018307 Orphanet:48818 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0011432 blepharophimosis - intellectual disability syndrome, Verloes type MONDO:0017393 Orphanet:293725 Orphanet:293642 blepharophimosis - intellectual disability syndrome MONDO:0011436 autosomal recessive distal spinal muscular atrophy 1 MONDO:0015363 Orphanet:98920 Orphanet:140468 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011439 spinocerebellar ataxia type 12 MONDO:0019792 Orphanet:98762 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011441 complex regional pain syndrome type 1 MONDO:0019369 Orphanet:99995 Orphanet:83452 complex regional pain syndrome MONDO:0011448 PPARG-related familial partial lipodystrophy MONDO:0020088 Orphanet:79083 Orphanet:98306 familial partial lipodystrophy MONDO:0011449 Salla disease MONDO:0019366 Orphanet:309334 Orphanet:834 free sialic acid storage disease MONDO:0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome MONDO:0016432 Orphanet:228190 Orphanet:228184 heart-hand syndrome MONDO:0011464 spinocerebellar ataxia type 11 MONDO:0019793 Orphanet:98767 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0011466 distal myopathy, Welander type MONDO:0016108 Orphanet:603 Orphanet:206650 autosomal dominant distal myopathy MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency MONDO:0019287 Orphanet:158668 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 MONDO:0018995 Orphanet:99956 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0011481 craniosynostosis 2 MONDO:0015338 Orphanet:1541 Orphanet:139393 syndromic craniosynostosis MONDO:0011486 congenital muscular dystrophy 1B MONDO:0019950 Orphanet:98893 Orphanet:97242 congenital muscular dystrophy MONDO:0011487 Huntington disease-like 3 MONDO:0015548 Orphanet:157946 Orphanet:158266 Huntington disease-like syndrome MONDO:0011493 Stickler syndrome type 2 MONDO:0019354 Orphanet:90654 Orphanet:828 Stickler syndrome MONDO:0011497 hereditary North American Indian childhood cirrhosis MONDO:0015762 Orphanet:168583 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0011506 familial infantile myoclonic epilepsy MONDO:0015653 Orphanet:352582 Orphanet:166472 monogenic epilepsy MONDO:0011510 Bohring-Opitz syndrome MONDO:0015159 Orphanet:97297 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011514 tricuspid atresia MONDO:0020289 Orphanet:1209 Orphanet:98721 congenital tricuspid malformation MONDO:0011518 Wiedemann-Steiner syndrome MONDO:0015159 Orphanet:319182 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011527 Charcot-Marie-Tooth disease type 4E MONDO:0018995 Orphanet:99951 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0011529 spinocerebellar ataxia type 13 MONDO:0019792 Orphanet:98768 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011534 Charcot-Marie-Tooth disease type 4G MONDO:0018995 Orphanet:99953 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0011539 nemaline myopathy 5 MONDO:0018958 Orphanet:98902 Orphanet:607 nemaline myopathy MONDO:0011540 spinocerebellar ataxia type 14 MONDO:0019792 Orphanet:98763 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011551 TH-deficient dopa-responsive dystonia MONDO:0016812 Orphanet:101150 Orphanet:255 dopa-responsive dystonia MONDO:0011551 TH-deficient dopa-responsive dystonia MONDO:0017307 Orphanet:101150 Orphanet:284818 disorder of tyrosine metabolism MONDO:0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome MONDO:0018795 Orphanet:71289 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0011559 benign recurrent intrahepatic cholestasis type 2 MONDO:0019008 Orphanet:99961 Orphanet:65682 benign recurrent intrahepatic cholestasis MONDO:0011575 cerebrooculonasal syndrome MONDO:0015159 Orphanet:66625 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011576 familial hyperaldosteronism type II MONDO:0016525 Orphanet:404 Orphanet:235936 familial hyperaldosteronism MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia MONDO:0017896 Orphanet:97290 Orphanet:319494 familial nonmedullary thyroid carcinoma MONDO:0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma MONDO:0019287 Orphanet:65282 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011582 multiple mitochondrial dysfunctions syndrome 1 MONDO:0017338 Orphanet:401869 Orphanet:289573 fatal multiple mitochondrial dysfunctions syndrome MONDO:0011585 autosomal recessive distal spinal muscular atrophy 2 MONDO:0015363 Orphanet:139552 Orphanet:140468 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011595 nonsyndromic congenital nail disorder 7 MONDO:0019284 Orphanet:79144 Orphanet:79369 inherited isolated nail anomaly MONDO:0011601 neonatal intrahepatic cholestasis due to citrin deficiency MONDO:0016602 Orphanet:247598 Orphanet:247582 citrin deficiency MONDO:0011603 GNE myopathy MONDO:0016112 Orphanet:602 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0011603 GNE myopathy MONDO:0017749 Orphanet:602 Orphanet:309526 disorder of multiple glycosylation MONDO:0011603 GNE myopathy MONDO:0018795 Orphanet:602 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0011612 glycine encephalopathy MONDO:0019239 Orphanet:407 Orphanet:79194 inborn disorder of serine family metabolism MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0017713 Orphanet:35701 Orphanet:309115 disorder of fatty acid oxidation and ketogenesis MONDO:0011624 transaldolase deficiency MONDO:0019231 Orphanet:101028 Orphanet:79186 inborn disorder of pentose phosphate metabolism MONDO:0011628 propionic acidemia MONDO:0019215 Orphanet:35 Orphanet:79163 classic organic aciduria MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0017740 Orphanet:79330 Orphanet:309347 disorder of protein N-glycosylation MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C MONDO:0018993 Orphanet:99937 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0011638 neuroferritinopathy MONDO:0015548 Orphanet:157846 Orphanet:158266 Huntington disease-like syndrome MONDO:0011638 neuroferritinopathy MONDO:0017763 Orphanet:157846 Orphanet:309842 disorder of iron metabolism and transport MONDO:0011638 neuroferritinopathy MONDO:0018307 Orphanet:157846 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0011655 alveolar soft part sarcoma MONDO:0018078 Orphanet:163699 Orphanet:3394 soft tissue sarcoma MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0019216 Orphanet:238517 Orphanet:79166 inborn disorder of amino acid transport MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0020066 Orphanet:230839 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0011671 Huntington disease-like 2 MONDO:0016987 Orphanet:98934 Orphanet:263440 neuroacanthocytosis MONDO:0011672 persistent polyclonal B-cell lymphocytosis MONDO:0015757 Orphanet:300324 Orphanet:171898 lymphoid hemopathy MONDO:0011674 Charcot-Marie-Tooth disease dominant intermediate B MONDO:0019548 Orphanet:100044 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG MONDO:0019548 Orphanet:100043 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0011681 episodic ataxia type 4 MONDO:0016227 Orphanet:79136 Orphanet:211062 hereditary episodic ataxia MONDO:0011682 episodic ataxia type 3 MONDO:0016227 Orphanet:79135 Orphanet:211062 hereditary episodic ataxia MONDO:0011683 oculocutaneous albinism type 4 MONDO:0018910 Orphanet:79435 Orphanet:55 oculocutaneous albinism MONDO:0011687 Charcot-Marie-Tooth disease axonal type 2F MONDO:0018993 Orphanet:99940 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0011694 spinocerebellar ataxia type 15/16 MONDO:0019792 Orphanet:98769 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011706 Kufor-Rakeb syndrome MONDO:0018307 Orphanet:306674 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0011717 hyperinsulinism-hyperammonemia syndrome MONDO:0015624 Orphanet:35878 Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism MONDO:0011719 gastrointestinal stromal tumor MONDO:0018506 Orphanet:44890 Orphanet:423798 mesenchymal tumor of small intestine MONDO:0011721 distal myopathy with anterior tibial onset MONDO:0016145 Orphanet:178400 Orphanet:207073 qualitative or quantitative defects of dysferlin MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO:0015159 Orphanet:397973 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011724 encephalopathy due to GLUT1 deficiency MONDO:0019226 Orphanet:71277 Orphanet:79178 glucose transport disorder MONDO:0011725 Crigler-Najjar syndrome type 2 MONDO:0009044 Orphanet:79235 Orphanet:205 Crigler-Najjar syndrome MONDO:0011730 fumaric aciduria MONDO:0016790 Orphanet:24 Orphanet:254749 tricarboxylic acid cycle disorder MONDO:0011731 glucose-galactose malabsorption MONDO:0019226 Orphanet:35710 Orphanet:79178 glucose transport disorder MONDO:0011732 familial digital arthropathy-brachydactyly MONDO:0018240 Orphanet:85169 Orphanet:364820 TRPV4-related bone disorder MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0017091 Orphanet:101070 Orphanet:268940 bilateral polymicrogyria MONDO:0011740 Carney-Stratakis syndrome MONDO:0015079 Orphanet:97286 Orphanet:100094 multiple polyglandular tumor MONDO:0011758 Hurler syndrome MONDO:0001586 Orphanet:93473 Orphanet:579 mucopolysaccharidosis type 1 MONDO:0011759 Hurler-Scheie syndrome MONDO:0001586 Orphanet:93476 Orphanet:579 mucopolysaccharidosis type 1 MONDO:0011760 Scheie syndrome MONDO:0001586 Orphanet:93474 Orphanet:579 mucopolysaccharidosis type 1 MONDO:0011765 multiple epiphyseal dysplasia type 5 MONDO:0016648 Orphanet:93311 Orphanet:251 multiple epiphyseal dysplasia MONDO:0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 MONDO:0015363 Orphanet:139547 Orphanet:140468 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0011772 B4GALT1-congenital disorder of glycosylation MONDO:0017749 Orphanet:79332 Orphanet:309526 disorder of multiple glycosylation MONDO:0011776 CINCA syndrome MONDO:0016168 Orphanet:1451 Orphanet:208650 cryopyrin-associated periodic syndrome MONDO:0011778 multiple epiphyseal dysplasia, Al-Gazali type MONDO:0016648 Orphanet:166024 Orphanet:251 multiple epiphyseal dysplasia MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0015548 Orphanet:98759 Orphanet:158266 Huntington disease-like syndrome MONDO:0011781 spinocerebellar ataxia type 17 MONDO:0019792 Orphanet:98759 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011783 ALG12-congenital disorder of glycosylation MONDO:0017740 Orphanet:79324 Orphanet:309347 disorder of protein N-glycosylation MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0015152 Orphanet:34515 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0016156 Orphanet:34515 Orphanet:207119 qualitative or quantitative defects of FKRP MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome MONDO:0015338 Orphanet:93267 Orphanet:139393 syndromic craniosynostosis MONDO:0011795 anonychia-microcephaly syndrome MONDO:0015161 Orphanet:1094 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0020127 Orphanet:94124 Orphanet:98497 hereditary peripheral neuropathy MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0100309 Orphanet:99013 Orphanet:183518 hereditary ataxia MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0020047 Orphanet:95434 Orphanet:98099 autosomal recessive syndromic cerebellar ataxia MONDO:0011818 isolated focal cortical dysplasia type II MONDO:0019009 Orphanet:268994 Orphanet:65683 isolated focal cortical dysplasia MONDO:0011819 spinocerebellar ataxia type 19/22 MONDO:0019792 Orphanet:98772 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011822 Bartter disease type 3 MONDO:0015231 Orphanet:93605 Orphanet:112 Bartter syndrome MONDO:0011823 developmental malformations-deafness-dystonia syndrome MONDO:0015161 Orphanet:79107 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011830 lissencephaly due to LIS1 mutation MONDO:0015146 Orphanet:95232 Orphanet:102009 classic lissencephaly MONDO:0011833 spinocerebellar ataxia type 21 MONDO:0019792 Orphanet:98773 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011834 spinocerebellar ataxia type 18 MONDO:0019792 Orphanet:98771 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0009637 Orphanet:70595 Orphanet:206966 inborn mitochondrial myopathy MONDO:0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis MONDO:0016798 Orphanet:70595 Orphanet:254818 ataxia neuropathy spectrum MONDO:0011855 granular corneal dystrophy type II MONDO:0020213 Orphanet:98963 Orphanet:98626 stromal corneal dystrophy MONDO:0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome MONDO:0016763 Orphanet:168552 Orphanet:254 spondylometaphyseal dysplasia MONDO:0011868 lethal congenital contracture syndrome 2 MONDO:0015161 Orphanet:137776 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011868 lethal congenital contracture syndrome 2 MONDO:0017436 Orphanet:137776 Orphanet:294965 lethal congenital contracture syndrome MONDO:0011872 Griscelli syndrome type 2 MONDO:0018306 Orphanet:79477 Orphanet:381 Griscelli syndrome MONDO:0011874 neonatal ichthyosis-sclerosing cholangitis syndrome MONDO:0018646 Orphanet:59303 Orphanet:447771 sclerosing cholangitis MONDO:0011883 Curly hair - acral keratoderma - caries syndrome MONDO:0019287 Orphanet:307766 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome MONDO:0019287 Orphanet:307936 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0011886 torsion dystonia 13 MONDO:0015990 Orphanet:98807 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0011889 Charcot-Marie-Tooth disease type 2I MONDO:0018993 Orphanet:99942 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0019011 Orphanet:101084 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0018993 Orphanet:99939 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0011895 idiopathic hypereosinophilic syndrome MONDO:0015691 Orphanet:3260 Orphanet:168956 hypereosinophilic syndrome MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0700282 Orphanet:137639 Orphanet:289494 POLR3-related leukodystrophy MONDO:0011899 Noonan syndrome-like disorder with loose anagen hair MONDO:0020297 Orphanet:2701 Orphanet:98733 Noonan syndrome and Noonan-related syndrome MONDO:0011902 Charcot-Marie-Tooth disease type 1F MONDO:0019011 Orphanet:101085 Orphanet:65753 Charcot-Marie-Tooth disease type 1 MONDO:0011903 Charcot-Marie-Tooth disease type 2J MONDO:0018993 Orphanet:99943 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0011906 congenital bile acid synthesis defect 1 MONDO:0018841 Orphanet:79301 Orphanet:485631 congenital bile acid synthesis defect MONDO:0011907 acrocapitofemoral dysplasia MONDO:0019695 Orphanet:63446 Orphanet:93436 acromelic dysplasia MONDO:0011909 Charcot-Marie-Tooth disease dominant intermediate D MONDO:0019548 Orphanet:100046 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0011911 craniolenticulosutural dysplasia MONDO:0015161 Orphanet:50814 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:0019950 Orphanet:258 Orphanet:97242 congenital muscular dystrophy MONDO:0011929 chromosome 1p36 deletion syndrome MONDO:0016883 Orphanet:1606 Orphanet:261857 partial deletion of the short arm of chromosome 1 MONDO:0011933 ALG2-congenital disorder of glycosylation MONDO:0017740 Orphanet:79326 Orphanet:309347 disorder of protein N-glycosylation MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0016073 Orphanet:139471 Orphanet:202948 syndromic microphthalmia MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0016763 Orphanet:1855 Orphanet:254 spondylometaphyseal dysplasia MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0957408 Orphanet:1855 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0011945 Gaucher disease perinatal lethal MONDO:0018150 Orphanet:85212 Orphanet:355 Gaucher disease MONDO:0011946 diaphanospondylodysostosis MONDO:0019694 Orphanet:66637 Orphanet:93434 spondylodysplastic dysplasia MONDO:0011948 pontocerebellar hypoplasia type 3 MONDO:0020135 Orphanet:97249 Orphanet:98523 pontocerebellar hypoplasia MONDO:0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia MONDO:0015244 Orphanet:284332 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0017740 Orphanet:86309 Orphanet:309347 disorder of protein N-glycosylation MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:0015152 Orphanet:62 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0011968 autosomal recessive limb-girdle muscular dystrophy type 2D MONDO:0016141 Orphanet:62 Orphanet:207060 qualitative or quantitative defects of alpha-sarcoglycan MONDO:0011969 ALG8-congenital disorder of glycosylation MONDO:0017740 Orphanet:79325 Orphanet:309347 disorder of protein N-glycosylation MONDO:0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome MONDO:0020072 Orphanet:163727 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0011975 paternal uniparental disomy of chromosome 14 MONDO:0016779 Orphanet:96334 Orphanet:254519 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0020087 Orphanet:50811 Orphanet:98305 hereditary lipodystrophy MONDO:0011977 8q22.1 microdeletion syndrome MONDO:0015161 Orphanet:178303 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011977 8q22.1 microdeletion syndrome MONDO:0016907 Orphanet:178303 Orphanet:262065 partial deletion of the long arm of chromosome 8 MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0019312 Orphanet:183678 Orphanet:79430 Hermansky-Pudlak syndrome MONDO:0012008 Lelis syndrome MONDO:0019287 Orphanet:140936 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0019548 Orphanet:100045 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0012014 Charcot-Marie-Tooth disease recessive intermediate A MONDO:0017058 Orphanet:217055 Orphanet:268337 autosomal recessive intermediate Charcot-Marie-Tooth disease MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:0016231 Orphanet:137667 Orphanet:211247 capillary malformation MONDO:0012020 chromosome 22q11.2 microduplication syndrome MONDO:0016972 Orphanet:1727 Orphanet:263004 partial duplication of the long arm of chromosome 22 MONDO:0012032 Braddock syndrome MONDO:0015161 Orphanet:52047 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0012034 autosomal dominant limb-girdle muscular dystrophy type 1F MONDO:0015151 Orphanet:55595 Orphanet:102014 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0012035 craniosynostosis-intracranial calcifications syndrome MONDO:0015338 Orphanet:52054 Orphanet:139393 syndromic craniosynostosis MONDO:0012041 familial adenomatous polyposis 2 MONDO:0016362 Orphanet:247798 Orphanet:220460 attenuated familial adenomatous polyposis MONDO:0012043 Reis-Bucklers corneal dystrophy MONDO:0020212 Orphanet:98961 Orphanet:98625 superficial corneal dystrophy MONDO:0012052 ALG1-congenital disorder of glycosylation MONDO:0017740 Orphanet:79327 Orphanet:309347 disorder of protein N-glycosylation MONDO:0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome MONDO:0015161 Orphanet:1200 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0012072 familial partial lipodystrophy, Kobberling type MONDO:0020088 Orphanet:79084 Orphanet:98306 familial partial lipodystrophy MONDO:0012073 ribose-5-P isomerase deficiency MONDO:0019046 Orphanet:440706 Orphanet:68356 leukodystrophy MONDO:0012073 ribose-5-P isomerase deficiency MONDO:0019231 Orphanet:440706 Orphanet:79186 inborn disorder of pentose phosphate metabolism MONDO:0012074 mandibuloacral dysplasia with type B lipodystrophy MONDO:0016584 Orphanet:90154 Orphanet:2457 mandibuloacral dysplasia MONDO:0012081 15q11q13 microduplication syndrome MONDO:0016965 Orphanet:238446 Orphanet:262950 partial duplication of the long arm of chromosome 15 MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO:0017759 Orphanet:35708 Orphanet:309830 disorder of catecholamine synthesis MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0015159 Orphanet:364577 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L MONDO:0018993 Orphanet:99945 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0012098 spinocerebellar ataxia type 20 MONDO:0019792 Orphanet:101110 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0012099 AICA-ribosiduria MONDO:0019236 Orphanet:250977 Orphanet:79191 inborn disorder of purine metabolism MONDO:0012103 spinocerebellar ataxia type 25 MONDO:0019792 Orphanet:101111 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0012104 acquired partial lipodystrophy MONDO:0020089 Orphanet:79087 Orphanet:98307 acquired lipodystrophy MONDO:0012105 granulomatosis with polyangiitis MONDO:0015492 Orphanet:900 Orphanet:156152 anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO:0012110 growth delay due to insulin-like growth factor type 1 deficiency MONDO:0015892 Orphanet:73272 Orphanet:181393 growth hormone insensitivity syndrome MONDO:0012116 spinocerebellar ataxia type 8 MONDO:0019792 Orphanet:98760 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0017740 Orphanet:79328 Orphanet:309347 disorder of protein N-glycosylation MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0017750 Orphanet:79333 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency MONDO:0019169 Orphanet:79246 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0017749 Orphanet:79322 Orphanet:309526 disorder of multiple glycosylation MONDO:0012125 hypomyelinating leukodystrophy 2 MONDO:0017226 Orphanet:280282 Orphanet:280270 Pelizaeus-Merzbacher-like disease MONDO:0012126 familial avascular necrosis of femoral head MONDO:0018379 Orphanet:86820 Orphanet:399302 primary avascular necrosis MONDO:0012127 autosomal recessive limb-girdle muscular dystrophy type 2J MONDO:0015152 Orphanet:140922 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0012130 myofibrillar myopathy 2 MONDO:0016108 Orphanet:399058 Orphanet:206650 autosomal dominant distal myopathy MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form MONDO:0015515 Orphanet:228308 Orphanet:157 carnitine palmitoyltransferase II deficiency MONDO:0012137 Carney complex - trismus - pseudocamptodactyly syndrome MONDO:0016432 Orphanet:319340 Orphanet:228184 heart-hand syndrome MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin MONDO:0020102 Orphanet:168577 Orphanet:98365 hereditary stomatocytosis MONDO:0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome MONDO:0016763 Orphanet:85167 Orphanet:254 spondylometaphyseal dysplasia MONDO:0012165 BNAR syndrome MONDO:0015161 Orphanet:217266 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0012172 mitochondrial trifunctional protein deficiency MONDO:0009637 Orphanet:746 Orphanet:206966 inborn mitochondrial myopathy MONDO:0012185 spondylometaphyseal dysplasia, A4 type MONDO:0016763 Orphanet:168555 Orphanet:254 spondylometaphyseal dysplasia MONDO:0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:0016391 Orphanet:65288 Orphanet:224 neonatal diabetes mellitus MONDO:0012193 autosomal dominant limb-girdle muscular dystrophy type 1G MONDO:0015151 Orphanet:55596 Orphanet:102014 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0012195 arthrogryposis-severe scoliosis syndrome MONDO:0019942 Orphanet:65720 Orphanet:97120 distal arthrogryposis MONDO:0012197 idiopathic aplastic anemia MONDO:0015610 Orphanet:88 Orphanet:164823 acquired aplastic anemia MONDO:0012204 familial pseudohyperkalemia MONDO:0020102 Orphanet:90044 Orphanet:98365 hereditary stomatocytosis MONDO:0012206 spondyloepiphyseal dysplasia with metatarsal shortening MONDO:0022800 Orphanet:137678 Orphanet:93421 type 2 collagenopathy MONDO:0012208 congenital reticular ichthyosiform erythroderma MONDO:0017266 Orphanet:281190 Orphanet:281103 keratinopathic ichthyosis MONDO:0012211 MPDU1-congenital disorder of glycosylation MONDO:0017749 Orphanet:79323 Orphanet:309526 disorder of multiple glycosylation MONDO:0012215 myofibrillar myopathy 3 MONDO:0016108 Orphanet:98911 Orphanet:206650 autosomal dominant distal myopathy MONDO:0012220 Griscelli syndrome type 3 MONDO:0018306 Orphanet:79478 Orphanet:381 Griscelli syndrome MONDO:0012221 alpha-N-acetylgalactosaminidase deficiency type 1 MONDO:0017779 Orphanet:79279 Orphanet:3137 alpha-N-acetylgalactosaminidase deficiency MONDO:0012222 alpha-N-acetylgalactosaminidase deficiency type 2 MONDO:0017779 Orphanet:79280 Orphanet:3137 alpha-N-acetylgalactosaminidase deficiency MONDO:0012231 Charcot-Marie-Tooth disease type 2A2 MONDO:0018993 Orphanet:99947 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0012235 autosomal recessive spinocerebellar ataxia 7 MONDO:0015244 Orphanet:284324 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0012246 spinocerebellar ataxia type 26 MONDO:0019793 Orphanet:101112 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0012247 spinocerebellar ataxia type 27 MONDO:0019792 Orphanet:98764 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0015152 Orphanet:86812 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0016184 Orphanet:86812 Orphanet:209030 qualitative or quantitative defects of protein O-mannosyltransferase 1 MONDO:0012250 Charcot-Marie-Tooth disease type 4H MONDO:0018995 Orphanet:99954 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0012251 MEDNIK syndrome MONDO:0017762 Orphanet:171851 Orphanet:309839 disorder of copper metabolism MONDO:0012251 MEDNIK syndrome MONDO:0019270 Orphanet:171851 Orphanet:79355 erythrokeratoderma MONDO:0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia MONDO:0016648 Orphanet:166029 Orphanet:251 multiple epiphyseal dysplasia MONDO:0012254 multiple epiphyseal dysplasia, with miniepiphyses MONDO:0016648 Orphanet:166032 Orphanet:251 multiple epiphyseal dysplasia MONDO:0012269 chromosome 3q29 microdeletion syndrome MONDO:0016902 Orphanet:65286 Orphanet:262019 partial deletion of the long arm of chromosome 3 MONDO:0012271 mesoaxial synostotic syndactyly with phalangeal reduction MONDO:0019530 Orphanet:157801 Orphanet:90025 non-syndromic syndactyly MONDO:0012276 generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0017704 Orphanet:79137 Orphanet:309 familial partial epilepsy MONDO:0012277 myofibrillar myopathy 4 MONDO:0016108 Orphanet:98912 Orphanet:206650 autosomal dominant distal myopathy MONDO:0012277 myofibrillar myopathy 4 MONDO:0016190 Orphanet:98912 Orphanet:209050 qualitative or quantitative defects of protein ZASP MONDO:0012277 myofibrillar myopathy 4 MONDO:0018943 Orphanet:98912 Orphanet:593 myofibrillar myopathy MONDO:0012280 Goldberg-Shprintzen syndrome MONDO:0015159 Orphanet:66629 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012289 myofibrillar myopathy 5 MONDO:0016189 Orphanet:171445 Orphanet:209047 qualitative or quantitative defects of filamin C MONDO:0012289 myofibrillar myopathy 5 MONDO:0018943 Orphanet:171445 Orphanet:593 myofibrillar myopathy MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0018158 Orphanet:254875 Orphanet:35698 mitochondrial DNA depletion syndrome MONDO:0012301 mitochondrial DNA depletion syndrome, myopathic form MONDO:0019238 Orphanet:254875 Orphanet:79193 inborn disorder of pyrimidine metabolism MONDO:0012307 familial scaphocephaly syndrome, McGillivray type MONDO:0015704 Orphanet:168624 Orphanet:169163 familial scaphocephaly syndrome MONDO:0012315 distal 10q deletion syndrome MONDO:0016909 Orphanet:96148 Orphanet:262083 partial monosomy of the long arm of chromosome 10 MONDO:0012324 Frias syndrome MONDO:0015161 Orphanet:264200 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0012324 Frias syndrome MONDO:0016912 Orphanet:264200 Orphanet:262110 partial deletion of the long arm of chromosome 14 MONDO:0012330 talo-patello-scaphoid osteolysis MONDO:0019707 Orphanet:50809 Orphanet:93449 primary osteolysis MONDO:0012334 hereditary spastic paraplegia 29 MONDO:0015087 Orphanet:101009 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0012342 7q11.23 microduplication syndrome MONDO:0016958 Orphanet:96121 Orphanet:262887 partial duplication of the long arm of chromosome 7 MONDO:0012345 acral peeling skin syndrome MONDO:0019347 Orphanet:263534 Orphanet:817 peeling skin syndrome MONDO:0012351 zygodactyly type 1 MONDO:0008512 Orphanet:295187 Orphanet:93402 syndactyly type 1 MONDO:0012368 aminoacylase 1 deficiency MONDO:0017686 Orphanet:137754 Orphanet:308448 inborn aminoacylase deficiency MONDO:0012381 hyperinsulinism due to INSR deficiency MONDO:0017182 Orphanet:263458 Orphanet:276525 familial hyperinsulinism MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0015624 Orphanet:71212 Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome MONDO:0019852 Orphanet:75325 Orphanet:95710 inherited primary ovarian failure MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0015653 Orphanet:1947 Orphanet:166472 monogenic epilepsy MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0020074 Orphanet:1947 Orphanet:98261 progressive myoclonus epilepsy MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0019215 Orphanet:79157 Orphanet:79163 classic organic aciduria MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0017352 Orphanet:71278 Orphanet:289841 disorder of glutamine metabolism MONDO:0012396 exercise-induced hyperinsulinism MONDO:0015624 Orphanet:165991 Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism MONDO:0012396 exercise-induced hyperinsulinism MONDO:0017706 Orphanet:165991 Orphanet:309001 disorder of carbohydrate transmembrane transport and absorption MONDO:0012399 complex cortical dysplasia with other brain malformations 7 MONDO:0015159 Orphanet:300573 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012401 congenital stromal corneal dystrophy MONDO:0020213 Orphanet:101068 Orphanet:98626 stromal corneal dystrophy MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO:0019237 Orphanet:79096 Orphanet:79192 inborn disorder of pyridoxine metabolism MONDO:0012410 Finnish upper limb-onset distal myopathy MONDO:0016108 Orphanet:399086 Orphanet:206650 autosomal dominant distal myopathy MONDO:0012411 giant axonal neuropathy 2 MONDO:0018993 Orphanet:401964 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0012413 syndromic microphthalmia type 5 MONDO:0016073 Orphanet:178364 Orphanet:202948 syndromic microphthalmia MONDO:0012417 heart-hand syndrome, Slovenian type MONDO:0016432 Orphanet:168796 Orphanet:228184 heart-hand syndrome MONDO:0012435 3-methylglutaconic aciduria type 5 MONDO:0017359 Orphanet:66634 Orphanet:289902 3-methylglutaconic aciduria MONDO:0012439 Alagille syndrome due to a NOTCH2 point mutation MONDO:0007318 Orphanet:261629 Orphanet:52 Alagille syndrome MONDO:0012449 spinocerebellar ataxia type 23 MONDO:0019792 Orphanet:101108 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0012450 spinocerebellar ataxia type 28 MONDO:0019792 Orphanet:101109 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0012455 Kleefstra syndrome MONDO:0015159 Orphanet:261494 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency MONDO:0017748 Orphanet:83639 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0012481 mevalonic aciduria MONDO:0017708 Orphanet:29 Orphanet:309025 mevalonate kinase deficiency MONDO:0012496 Koolen-de Vries syndrome MONDO:0015159 Orphanet:96169 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012502 normophosphatemic familial tumoral calcinosis MONDO:0018891 Orphanet:306658 Orphanet:53715 familial tumoral calcinosis MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0019685 Orphanet:85164 Orphanet:93420 FGFR3-related chondrodysplasia MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0015159 Orphanet:83617 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO:0016463 Orphanet:83617 Orphanet:229720 syndromic agammaglobulinemia MONDO:0012514 hypomyelinating leukodystrophy 5 MONDO:0019046 Orphanet:85163 Orphanet:68356 leukodystrophy MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0015159 Orphanet:79113 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO:0018237 Orphanet:79113 Orphanet:364574 acrofacial dysostosis MONDO:0012521 herpes simplex encephalitis MONDO:0006009 Orphanet:1930 Orphanet:98252 viral encephalitis MONDO:0012545 neutral lipid storage myopathy MONDO:0015611 Orphanet:98908 Orphanet:165 neutral lipid storage disease MONDO:0012548 Kostmann syndrome MONDO:0015356 Orphanet:99749 Orphanet:140162 hereditary neoplastic syndrome MONDO:0012548 Kostmann syndrome MONDO:0028226 Orphanet:99749 Orphanet:439849 autosomal recessive severe congenital neutropenia MONDO:0012549 autosomal recessive ataxia, Beauce type MONDO:0015244 Orphanet:88644 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0017169 Orphanet:276152 Orphanet:276161 multiple endocrine neoplasia MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0017749 Orphanet:91131 Orphanet:309526 disorder of multiple glycosylation MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:0016801 Orphanet:91130 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0012574 Potocki-Lupski syndrome MONDO:0016950 Orphanet:1713 Orphanet:262803 partial duplication of the short arm of chromosome 17 MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0016295 Orphanet:228366 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0012589 Pitt-Hopkins syndrome MONDO:0015159 Orphanet:2896 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0015653 Orphanet:500533 Orphanet:166472 monogenic epilepsy MONDO:0012621 deafness-infertility syndrome MONDO:0016913 Orphanet:94064 Orphanet:262119 partial deletion of the long arm of chromosome 15 MONDO:0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome MONDO:0019046 Orphanet:137898 Orphanet:68356 leukodystrophy MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0017750 Orphanet:95428 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0017750 Orphanet:263508 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0016073 Orphanet:77299 Orphanet:202948 syndromic microphthalmia MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0024237 Orphanet:77299 Orphanet:183500 inherited neurodegenerative disorder MONDO:0012640 Charcot-Marie-Tooth disease type 4J MONDO:0018995 Orphanet:139515 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0012648 isobutyryl-CoA dehydrogenase deficiency MONDO:0019215 Orphanet:79159 Orphanet:79163 classic organic aciduria MONDO:0012652 autosomal recessive limb-girdle muscular dystrophy type 2L MONDO:0015152 Orphanet:206549 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0012656 lethal congenital contracture syndrome 3 MONDO:0015161 Orphanet:137783 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0012656 lethal congenital contracture syndrome 3 MONDO:0017436 Orphanet:137783 Orphanet:294965 lethal congenital contracture syndrome MONDO:0012658 brachydactyly type B2 MONDO:0019676 Orphanet:140908 Orphanet:93383 brachydactyly type B MONDO:0012664 spastic ataxia 3 MONDO:0017847 Orphanet:314603 Orphanet:316240 autosomal recessive spastic ataxia MONDO:0012669 Legius syndrome MONDO:0019289 Orphanet:137605 Orphanet:79375 hyperpigmentation of the skin MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:0020135 Orphanet:166073 Orphanet:98523 pontocerebellar hypoplasia MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0015152 Orphanet:206554 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0015827 Orphanet:93610 Orphanet:18 distal renal tubular acidosis MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0016295 Orphanet:263516 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0020074 Orphanet:263516 Orphanet:98261 progressive myoclonus epilepsy MONDO:0012725 lipoprotein glomerulopathy MONDO:0015905 Orphanet:329481 Orphanet:181437 syndromic dyslipidemia MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome MONDO:0015168 Orphanet:53696 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0012755 episodic ataxia type 7 MONDO:0016227 Orphanet:209970 Orphanet:211062 hereditary episodic ataxia MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:0016894 Orphanet:261197 Orphanet:261956 partial deletion of the short arm of chromosome 16 MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0017015 Orphanet:137631 Orphanet:264665 primary interstitial lung disease specific to childhood MONDO:0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome MONDO:0044200 Orphanet:137631 Orphanet:317416 T-B+ severe combined immunodeficiency MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO:0015159 Orphanet:488434 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012761 chromosome 3q29 microduplication syndrome MONDO:0016954 Orphanet:251038 Orphanet:262851 partial duplication of the long arm of chromosome 3 MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0015159 Orphanet:199318 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012774 chromosome 15q13.3 microdeletion syndrome MONDO:0016913 Orphanet:199318 Orphanet:262119 partial deletion of the long arm of chromosome 15 MONDO:0012783 RFT1-congenital disorder of glycosylation MONDO:0017740 Orphanet:244310 Orphanet:309347 disorder of protein N-glycosylation MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0015244 Orphanet:139485 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0012784 autosomal recessive ataxia due to ubiquinone deficiency MONDO:0018151 Orphanet:139485 Orphanet:35656 coenzyme Q10 deficiency MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO:0017706 Orphanet:247794 Orphanet:309001 disorder of carbohydrate transmembrane transport and absorption MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria MONDO:0016796 Orphanet:1933 Orphanet:254803 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0016796 Orphanet:255235 Orphanet:254803 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO:0012802 oculoauricular syndrome MONDO:0016073 Orphanet:157962 Orphanet:202948 syndromic microphthalmia MONDO:0012803 diarrhea-vomiting due to trehalase deficiency MONDO:0017706 Orphanet:103909 Orphanet:309001 disorder of carbohydrate transmembrane transport and absorption MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0015427 Orphanet:98811 Orphanet:1431 paroxysmal dyskinesia MONDO:0012824 hypomyelinating leukodystrophy 4 MONDO:0017226 Orphanet:280288 Orphanet:280270 Pelizaeus-Merzbacher-like disease MONDO:0012825 extraskeletal myxoid chondrosarcoma MONDO:0018078 Orphanet:209916 Orphanet:3394 soft tissue sarcoma MONDO:0012830 chromosome 10q23 deletion syndrome MONDO:0016909 Orphanet:276413 Orphanet:262083 partial monosomy of the long arm of chromosome 10 MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO:0015338 Orphanet:93262 Orphanet:139393 syndromic craniosynostosis MONDO:0012853 Fontaine progeroid syndrome MONDO:0015161 Orphanet:2095 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0012853 Fontaine progeroid syndrome MONDO:0019287 Orphanet:2095 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0012858 primary CD59 deficiency MONDO:0020127 Orphanet:169464 Orphanet:98497 hereditary peripheral neuropathy MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0016901 Orphanet:251019 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0012864 chromosome 2q32-q33 deletion syndrome MONDO:0100147 Orphanet:576283 Orphanet:576278 SATB2 associated disorder MONDO:0012867 hereditary spastic paraplegia 38 MONDO:0015087 Orphanet:171617 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0012885 SRD5A3-congenital disorder of glycosylation MONDO:0017749 Orphanet:324737 Orphanet:309526 disorder of multiple glycosylation MONDO:0012895 torsion dystonia 17 MONDO:0015990 Orphanet:370103 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0012905 hypomyelinating leukodystrophy 6 MONDO:0019046 Orphanet:139441 Orphanet:68356 leukodystrophy MONDO:0012914 chromosome 1q21.1 deletion syndrome MONDO:0022756 Orphanet:250989 Orphanet:262001 chromosome 1q deletion MONDO:0012915 chromosome 1q21.1 duplication syndrome MONDO:0016952 Orphanet:250994 Orphanet:262833 partial duplication of the long arm of chromosome 1 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome MONDO:0016884 Orphanet:261349 Orphanet:261866 partial deletion of the short arm of chromosome 2 MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:0022756 Orphanet:250999 Orphanet:262001 chromosome 1q deletion MONDO:0012929 Compton-North congenital myopathy MONDO:0019952 Orphanet:210163 Orphanet:97245 congenital myopathy MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0028226 Orphanet:331176 Orphanet:439849 autosomal recessive severe congenital neutropenia MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0015159 Orphanet:96125 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0016888 Orphanet:96125 Orphanet:261902 partial deletion of the short arm of chromosome 6 MONDO:0012960 intellectual disability, autosomal dominant 5 MONDO:0020071 Orphanet:544254 Orphanet:98258 infantile epilepsy syndrome MONDO:0012964 chromosome 15q26-qter deletion syndrome MONDO:0016913 Orphanet:1596 Orphanet:262119 partial deletion of the long arm of chromosome 15 MONDO:0012980 endocrine-cerebro-osteodysplasia syndrome MONDO:0043009 Orphanet:199332 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0012982 episodic ataxia type 6 MONDO:0016227 Orphanet:209967 Orphanet:211062 hereditary episodic ataxia MONDO:0012986 bilateral parasagittal parieto-occipital polymicrogyria MONDO:0017091 Orphanet:208441 Orphanet:268940 bilateral polymicrogyria MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0016812 Orphanet:70594 Orphanet:255 dopa-responsive dystonia MONDO:0012996 AGAT deficiency MONDO:0000456 Orphanet:35704 Orphanet:79172 cerebral creatine deficiency syndrome MONDO:0012999 guanidinoacetate methyltransferase deficiency MONDO:0000456 Orphanet:382 Orphanet:79172 cerebral creatine deficiency syndrome MONDO:0013005 EAST syndrome MONDO:0015962 Orphanet:199343 Orphanet:183592 inherited renal tubular disease MONDO:0013005 EAST syndrome MONDO:0100309 Orphanet:199343 Orphanet:183518 hereditary ataxia MONDO:0013006 isolated growth hormone deficiency type IB MONDO:0000050 Orphanet:231671 Orphanet:631 isolated congenital growth hormone deficiency MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency MONDO:0015695 Orphanet:317428 Orphanet:169090 combined immunodeficiency due to CRAC channel dysfunction MONDO:0013008 combined immunodeficiency due to STIM1 deficiency MONDO:0015695 Orphanet:317430 Orphanet:169090 combined immunodeficiency due to CRAC channel dysfunction MONDO:0013016 leukocyte adhesion deficiency 3 MONDO:0017570 Orphanet:99844 Orphanet:2968 leukocyte adhesion deficiency MONDO:0013025 chromosome 6q24-q25 deletion syndrome MONDO:0016905 Orphanet:251056 Orphanet:262047 partial deletion of the long arm of chromosome 6 MONDO:0013026 subepithelial mucinous corneal dystrophy MONDO:0020212 Orphanet:98959 Orphanet:98625 superficial corneal dystrophy MONDO:0013027 posterior amorphous corneal dystrophy MONDO:0020213 Orphanet:98971 Orphanet:98626 stromal corneal dystrophy MONDO:0013028 adenosine monophosphate deaminase deficiency MONDO:0009637 Orphanet:45 Orphanet:206966 inborn mitochondrial myopathy MONDO:0013028 adenosine monophosphate deaminase deficiency MONDO:0019236 Orphanet:45 Orphanet:79191 inborn disorder of purine metabolism MONDO:0013035 orofaciodigital syndrome XI MONDO:0015375 Orphanet:141000 Orphanet:140997 orofaciodigital syndrome MONDO:0013036 Zechi-Ceide syndrome MONDO:0015159 Orphanet:217017 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013038 CLOVES syndrome MONDO:0019296 Orphanet:140944 Orphanet:79382 subcutaneous tissue disorder MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO:0002412 Orphanet:99849 Orphanet:79201 disorder of glycogen metabolism MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0017749 Orphanet:263494 Orphanet:309526 disorder of multiple glycosylation MONDO:0013049 DPM3-congenital disorder of glycosylation MONDO:0018276 Orphanet:263494 Orphanet:370953 muscular dystrophy-dystroglycanopathy MONDO:0013050 lethal polymalformative syndrome, Boissel type MONDO:0043009 Orphanet:210144 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0013051 autosomal recessive cutis laxa type 2B MONDO:0019573 Orphanet:357064 Orphanet:90350 autosomal recessive cutis laxa type 2 MONDO:0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type MONDO:0015161 Orphanet:217026 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0013056 developmental and epileptic encephalopathy, 39 MONDO:0016801 Orphanet:353217 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0013058 cystic leukoencephalopathy without megalencephaly MONDO:0019046 Orphanet:85136 Orphanet:68356 leukodystrophy MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0017998 Orphanet:199351 Orphanet:329303 PLA2G6-associated neurodegeneration MONDO:0013061 myofibrillar myopathy 6 MONDO:0018943 Orphanet:199340 Orphanet:593 myofibrillar myopathy MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0019296 Orphanet:2396 Orphanet:79382 subcutaneous tissue disorder MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0015159 Orphanet:217346 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0016917 Orphanet:217346 Orphanet:262155 partial deletion of the long arm of chromosome 19 MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0017313 Orphanet:217382 Orphanet:285657 disorder of folate metabolism and transport MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0024237 Orphanet:217382 Orphanet:183500 inherited neurodegenerative disorder MONDO:0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome MONDO:0009637 Orphanet:330054 Orphanet:206966 inborn mitochondrial myopathy MONDO:0013118 Nijmegen breakage syndrome-like disorder MONDO:0015161 Orphanet:240760 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0013132 hereditary spastic paraplegia 36 MONDO:0015087 Orphanet:320365 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0013136 hereditary hypotrichosis with recurrent skin vesicles MONDO:0004907 Orphanet:217407 Orphanet:79364 alopecia MONDO:0013161 autosomal recessive limb-girdle muscular dystrophy type 2O MONDO:0015152 Orphanet:206564 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0015152 Orphanet:206559 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0013162 autosomal recessive limb-girdle muscular dystrophy type 2N MONDO:0016185 Orphanet:206559 Orphanet:209033 qualitative or quantitative defects of protein O-mannosyltransferase 2 MONDO:0013164 beta-ureidopropionase deficiency MONDO:0019238 Orphanet:65287 Orphanet:79193 inborn disorder of pyrimidine metabolism MONDO:0013166 GABA aminotransaminase deficiency MONDO:0000698 Orphanet:2066 Orphanet:79175 gamma-amino butyric acid metabolism disorder MONDO:0013166 GABA aminotransaminase deficiency MONDO:0017684 Orphanet:2066 Orphanet:308407 disorder of beta and omega amino acid metabolism MONDO:0013169 chromosome 5p13 duplication syndrome MONDO:0015159 Orphanet:329802 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013169 chromosome 5p13 duplication syndrome MONDO:0016942 Orphanet:329802 Orphanet:262725 partial trisomy/tetrasomy of the short arm of chromosome 5 MONDO:0013171 purine nucleoside phosphorylase deficiency MONDO:0019236 Orphanet:760 Orphanet:79191 inborn disorder of purine metabolism MONDO:0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency MONDO:0019950 Orphanet:34520 Orphanet:97242 congenital muscular dystrophy MONDO:0013178 congenital muscular dystrophy due to LMNA mutation MONDO:0019950 Orphanet:157973 Orphanet:97242 congenital muscular dystrophy MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO:0015159 Orphanet:217385 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO:0016950 Orphanet:217385 Orphanet:262803 partial duplication of the short arm of chromosome 17 MONDO:0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome MONDO:0017766 Orphanet:309854 Orphanet:309851 disorder of manganese transport MONDO:0013212 Charcot-Marie-Tooth disease axonal type 2N MONDO:0018993 Orphanet:228174 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0013238 chromosome 17q23.1-q23.2 deletion syndrome MONDO:0016915 Orphanet:261279 Orphanet:262137 partial deletion of the long arm of chromosome 17 MONDO:0013241 spinocerebellar ataxia type 30 MONDO:0019793 Orphanet:211017 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0013245 syndromic multisystem autoimmune disease due to ITCH deficiency MONDO:0015159 Orphanet:228426 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013252 Warsaw breakage syndrome MONDO:0015161 Orphanet:280558 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0013256 chromosome 15q24 deletion syndrome MONDO:0016913 Orphanet:94065 Orphanet:262119 partial deletion of the long arm of chromosome 15 MONDO:0013267 distal 16p11.2 microdeletion syndrome MONDO:0016894 Orphanet:261222 Orphanet:261956 partial deletion of the short arm of chromosome 16 MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0016643 Orphanet:228390 Orphanet:250 frontonasal dysplasia MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0016643 Orphanet:306542 Orphanet:250 frontonasal dysplasia MONDO:0013272 chromosome 14q11-q22 deletion syndrome MONDO:0016912 Orphanet:261120 Orphanet:262110 partial deletion of the long arm of chromosome 14 MONDO:0013273 chromosome 16p13.3 duplication syndrome MONDO:0016949 Orphanet:96078 Orphanet:262794 partial duplication of the short arm of chromosome 16 MONDO:0013275 hemolytic anemia due to glucophosphate isomerase deficiency MONDO:0017688 Orphanet:712 Orphanet:308459 disorder of glycolysis MONDO:0013281 COG4-congenital disorder of glycosylation MONDO:0017750 Orphanet:263501 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0013292 chromosome 4q21 deletion syndrome MONDO:0016903 Orphanet:238750 Orphanet:262029 partial deletion of the long arm of chromosome 4 MONDO:0013296 myeloid neoplasm associated with FGFR1 rearrangement MONDO:0015688 Orphanet:168953 Orphanet:168943 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO:0015159 Orphanet:217340 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO:0016967 Orphanet:217340 Orphanet:262968 partial duplication of the long arm of chromosome 17 MONDO:0013301 aromatase deficiency MONDO:0019852 Orphanet:91 Orphanet:95710 inherited primary ovarian failure MONDO:0013304 von Willebrand disease 2 MONDO:0019565 Orphanet:166081 Orphanet:903 hereditary von Willebrand disease MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency MONDO:0018479 Orphanet:95699 Orphanet:418 congenital adrenal hyperplasia MONDO:0013311 ectodermal dysplasia-syndactyly syndrome MONDO:0019287 Orphanet:247820 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0013320 chromosome 16p12.2-p11.2 deletion syndrome MONDO:0016894 Orphanet:261211 Orphanet:261956 partial deletion of the short arm of chromosome 16 MONDO:0013324 lymphedema-posterior choanal atresia syndrome MONDO:0002013 Orphanet:99141 Orphanet:2415 lymphangioma MONDO:0013325 COG5-congenital disorder of glycosylation MONDO:0017750 Orphanet:263487 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0013327 primary hyperoxaluria type 3 MONDO:0002474 Orphanet:93600 Orphanet:416 primary hyperoxaluria MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication MONDO:0016046 Orphanet:238578 Orphanet:199315 familial clubfoot with or without associated lower limb anomalies MONDO:0013329 familial clubfoot due to 17q23.1q23.2 microduplication MONDO:0016967 Orphanet:238578 Orphanet:262968 partial duplication of the long arm of chromosome 17 MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO:0015159 Orphanet:357001 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO:0016897 Orphanet:357001 Orphanet:261983 partial deletion of the short arm of chromosome 19 MONDO:0013338 Charcot-Marie-Tooth disease recessive intermediate B MONDO:0017058 Orphanet:254334 Orphanet:268337 autosomal recessive intermediate Charcot-Marie-Tooth disease MONDO:0013341 methylmalonic acidemia due to transcobalamin receptor defect MONDO:0019220 Orphanet:280183 Orphanet:79171 inborn disorder of cobalamin metabolism and transport MONDO:0013342 hereditary spastic paraplegia 48 MONDO:0002561 Orphanet:306511 Orphanet:68366 lysosomal storage disease MONDO:0013349 ALG11-congenital disorder of glycosylation MONDO:0017740 Orphanet:280071 Orphanet:309347 disorder of protein N-glycosylation MONDO:0013354 spastic ataxia 4 MONDO:0017847 Orphanet:254343 Orphanet:316240 autosomal recessive spastic ataxia MONDO:0013355 congenital dyserythropoietic anemia type 4 MONDO:0019403 Orphanet:293825 Orphanet:85 congenital dyserythropoietic anemia MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0016915 Orphanet:97685 Orphanet:262137 partial deletion of the long arm of chromosome 17 MONDO:0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb MONDO:0018975 Orphanet:97685 Orphanet:636 neurofibromatosis type 1 MONDO:0013359 familial hyperaldosteronism type III MONDO:0016525 Orphanet:251274 Orphanet:235936 familial hyperaldosteronism MONDO:0013360 brachyolmia, Maroteaux type MONDO:0015262 Orphanet:93302 Orphanet:1293 brachyolmia MONDO:0013361 congenital prothrombin deficiency MONDO:0015722 Orphanet:325 Orphanet:169826 congenital vitamin K-dependent coagulation factors deficiency MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO:0015159 Orphanet:363444 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013363 chromosome 2q31.1 duplication syndrome MONDO:0016953 Orphanet:294026 Orphanet:262842 partial duplication of the long arm of chromosome 2 MONDO:0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency MONDO:0019188 Orphanet:353284 Orphanet:783 Rubinstein-Taybi syndrome MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q MONDO:0015152 Orphanet:254361 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q MONDO:0016198 Orphanet:254361 Orphanet:209196 qualitative or quantitative defects of plectin MONDO:0013391 sterol carrier protein 2 deficiency MONDO:0019046 Orphanet:163684 Orphanet:68356 leukodystrophy MONDO:0013391 sterol carrier protein 2 deficiency MONDO:0019233 Orphanet:163684 Orphanet:79188 disorder of peroxisomal beta oxidation MONDO:0013392 autosomal recessive spinocerebellar ataxia 10 MONDO:0015244 Orphanet:284289 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0013393 distal 7q11.23 microdeletion syndrome MONDO:0016906 Orphanet:254351 Orphanet:262056 partial deletion of the long arm of chromosome 7 MONDO:0013396 chromosome 1p32-p31 deletion syndrome MONDO:0016883 Orphanet:401986 Orphanet:261857 partial deletion of the short arm of chromosome 1 MONDO:0013424 3p- syndrome MONDO:0016885 Orphanet:1620 Orphanet:261875 partial deletion of the short arm of chromosome 3 MONDO:0013424 3p- syndrome MONDO:0017393 Orphanet:1620 Orphanet:293642 blepharophimosis - intellectual disability syndrome MONDO:0013433 primary sclerosing cholangitis MONDO:0018646 Orphanet:171 Orphanet:447771 sclerosing cholangitis MONDO:0013439 congenital bile acid synthesis defect 3 MONDO:0018841 Orphanet:79302 Orphanet:485631 congenital bile acid synthesis defect MONDO:0013440 autosomal recessive limb-girdle muscular dystrophy type 2P MONDO:0015152 Orphanet:280333 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0013456 constitutional megaloblastic anemia with severe neurologic disease MONDO:0017313 Orphanet:319651 Orphanet:285657 disorder of folate metabolism and transport MONDO:0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome MONDO:0015962 Orphanet:363694 Orphanet:183592 inherited renal tubular disease MONDO:0013464 episodic ataxia type 5 MONDO:0016227 Orphanet:211067 Orphanet:211062 hereditary episodic ataxia MONDO:0013478 PLIN1-related familial partial lipodystrophy MONDO:0020088 Orphanet:280356 Orphanet:98306 familial partial lipodystrophy MONDO:0013481 chromosome 13q14 deletion syndrome MONDO:0016911 Orphanet:1587 Orphanet:262101 partial deletion of the long arm of chromosome 13 MONDO:0013485 spinocerebellar ataxia type 35 MONDO:0019792 Orphanet:276193 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0013486 spinocerebellar ataxia type 32 MONDO:0019792 Orphanet:276183 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0019707 Orphanet:280576 Orphanet:93449 primary osteolysis MONDO:0013526 progressive myoclonic epilepsy type 6 MONDO:0020074 Orphanet:280620 Orphanet:98261 progressive myoclonus epilepsy MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency MONDO:0015903 Orphanet:140905 Orphanet:181428 hyperalphalipoproteinemia MONDO:0013536 heme oxygenase 1 deficiency MONDO:0017754 Orphanet:562509 Orphanet:309813 inborn disorder of porphyrin metabolism MONDO:0013550 distal myopathy with posterior leg and anterior hand involvement MONDO:0016108 Orphanet:63273 Orphanet:206650 autosomal dominant distal myopathy MONDO:0013559 Hermansky-Pudlak syndrome 7 MONDO:0019312 Orphanet:231531 Orphanet:79430 Hermansky-Pudlak syndrome MONDO:0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 MONDO:0017748 Orphanet:280633 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0013572 Keppen-Lubinsky syndrome MONDO:0020087 Orphanet:435628 Orphanet:98305 hereditary lipodystrophy MONDO:0013578 DYRK1A-related intellectual disability syndrome MONDO:0015159 Orphanet:464306 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013579 methylmalonate semialdehyde dehydrogenase deficiency MONDO:0019242 Orphanet:289307 Orphanet:79197 inborn disorder of branched-chain amino acid metabolism MONDO:0013580 pyruvate dehydrogenase E1-beta deficiency MONDO:0019169 Orphanet:255138 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency MONDO:0016527 Orphanet:284435 Orphanet:2364 glycogen storage disease due to lactate dehydrogenase deficiency MONDO:0013594 spinocerebellar ataxia type 36 MONDO:0019792 Orphanet:276198 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0015126 Orphanet:391487 Orphanet:101956 polyendocrinopathy MONDO:0013615 craniosynostosis and dental anomalies MONDO:0015338 Orphanet:284149 Orphanet:139393 syndromic craniosynostosis MONDO:0013644 Charcot-Marie-Tooth disease axonal type 2O MONDO:0018993 Orphanet:284232 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 MONDO:0020047 Orphanet:284271 Orphanet:98099 autosomal recessive syndromic cerebellar ataxia MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO:0015159 Orphanet:284160 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO:0016907 Orphanet:284160 Orphanet:262065 partial deletion of the long arm of chromosome 8 MONDO:0013648 familial progressive hyperpigmentation MONDO:0019289 Orphanet:79146 Orphanet:79375 hyperpigmentation of the skin MONDO:0013661 combined malonic and methylmalonic acidemia MONDO:0019215 Orphanet:289504 Orphanet:79163 classic organic aciduria MONDO:0013668 tetrasomy 18p MONDO:0016951 Orphanet:3307 Orphanet:262812 partial trisomy/tetrasomy of the short arm of chromosome 18 MONDO:0013674 neurodegeneration with brain iron accumulation 4 MONDO:0018307 Orphanet:289560 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 MONDO:0017338 Orphanet:401874 Orphanet:289573 fatal multiple mitochondrial dysfunctions syndrome MONDO:0013686 distal myopathy, Tateyama type MONDO:0016108 Orphanet:488650 Orphanet:206650 autosomal dominant distal myopathy MONDO:0013687 autosomal recessive spinocerebellar ataxia 12 MONDO:0018446 Orphanet:284282 Orphanet:404481 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0013688 linear and whorled nevoid hypermelanosis MONDO:0019289 Orphanet:79150 Orphanet:79375 hyperpigmentation of the skin MONDO:0013691 Feingold syndrome type 2 MONDO:0015267 Orphanet:391646 Orphanet:1305 Feingold syndrome MONDO:0013692 BAP1-related tumor predisposition syndrome MONDO:0015356 Orphanet:289539 Orphanet:140162 hereditary neoplastic syndrome MONDO:0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 MONDO:0054865 Orphanet:330050 Orphanet:527276 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0013731 MEGF10-related myopathy MONDO:0019952 Orphanet:439212 Orphanet:97245 congenital myopathy MONDO:0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome MONDO:0015159 Orphanet:329332 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013740 lethal occipital encephalocele-skeletal dysplasia syndrome MONDO:0015338 Orphanet:293925 Orphanet:139393 syndromic craniosynostosis MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0018993 Orphanet:300319 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0013753 Charcot-Marie-Tooth disease axonal type 2P MONDO:0018993 Orphanet:99941 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0013755 PYCR1-related de Barsy syndrome MONDO:0017569 Orphanet:293633 Orphanet:2962 de Barsy syndrome MONDO:0013758 Charcot-Marie-Tooth disease dominant intermediate E MONDO:0019548 Orphanet:93114 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0013762 lipoic acid synthetase deficiency MONDO:0018424 Orphanet:401859 Orphanet:401854 inherited lipoic acid biosynthesis defect MONDO:0013776 spastic ataxia 5 MONDO:0017847 Orphanet:313772 Orphanet:316240 autosomal recessive spastic ataxia MONDO:0013776 spastic ataxia 5 MONDO:0018158 Orphanet:313772 Orphanet:35698 mitochondrial DNA depletion syndrome MONDO:0013777 pseudohypoaldosteronism type 2B MONDO:0019162 Orphanet:88939 Orphanet:757 pseudohypoaldosteronism type 2 MONDO:0013778 pseudohypoaldosteronism type 2C MONDO:0019162 Orphanet:88940 Orphanet:757 pseudohypoaldosteronism type 2 MONDO:0013781 pseudohypoaldosteronism type 2D MONDO:0019162 Orphanet:300525 Orphanet:757 pseudohypoaldosteronism type 2 MONDO:0013782 pseudohypoaldosteronism type 2E MONDO:0019162 Orphanet:300530 Orphanet:757 pseudohypoaldosteronism type 2 MONDO:0013784 neonatal-onset encephalopathy with rigidity and seizures MONDO:0015653 Orphanet:435845 Orphanet:166472 monogenic epilepsy MONDO:0013789 DDOST-congenital disorder of glycosylation MONDO:0017740 Orphanet:300536 Orphanet:309347 disorder of protein N-glycosylation MONDO:0013796 chromosome 17q12 duplication syndrome MONDO:0016967 Orphanet:261272 Orphanet:262968 partial duplication of the long arm of chromosome 17 MONDO:0013797 chromosome 17q12 deletion syndrome MONDO:0016915 Orphanet:261265 Orphanet:262137 partial deletion of the long arm of chromosome 17 MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:0015159 Orphanet:658540 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013798 chromosome 16q22 deletion syndrome MONDO:0016914 Orphanet:658540 Orphanet:262128 partial deletion of the long arm of chromosome 16 MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0016790 Orphanet:313850 Orphanet:254749 tricarboxylic acid cycle disorder MONDO:0013802 infantile cerebellar-retinal degeneration MONDO:0024237 Orphanet:313850 Orphanet:183500 inherited neurodegenerative disorder MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:0015356 Orphanet:313846 Orphanet:140162 hereditary neoplastic syndrome MONDO:0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome MONDO:0019293 Orphanet:313846 Orphanet:79379 skin vascular disease MONDO:0013808 Maffucci syndrome MONDO:0015356 Orphanet:163634 Orphanet:140162 hereditary neoplastic syndrome MONDO:0013808 Maffucci syndrome MONDO:0019293 Orphanet:163634 Orphanet:79379 skin vascular disease MONDO:0013808 Maffucci syndrome MONDO:0019716 Orphanet:163634 Orphanet:93460 overgrowth syndrome MONDO:0013810 COG6-congenital disorder of glycosylation MONDO:0017750 Orphanet:464443 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0013813 dystonia 21 MONDO:0000476 Orphanet:306734 Orphanet:376724 generalized dystonia MONDO:0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness MONDO:0018151 Orphanet:280406 Orphanet:35656 coenzyme Q10 deficiency MONDO:0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome MONDO:0018151 Orphanet:254898 Orphanet:35656 coenzyme Q10 deficiency MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0018151 Orphanet:319678 Orphanet:35656 coenzyme Q10 deficiency MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO:0016949 Orphanet:370079 Orphanet:262794 partial duplication of the short arm of chromosome 16 MONDO:0013851 autosomal dominant aplasia and myelodysplasia MONDO:0001713 Orphanet:314399 Orphanet:68383 inherited aplastic anemia MONDO:0013867 Brown-Vialetto-van Laere syndrome 2 MONDO:0008891 Orphanet:572550 Orphanet:97229 riboflavin transporter deficiency MONDO:0013869 adenine phosphoribosyltransferase deficiency MONDO:0019236 Orphanet:976 Orphanet:79191 inborn disorder of purine metabolism MONDO:0013870 TMEM165-congenital disorder of glycosylation MONDO:0017740 Orphanet:314667 Orphanet:309347 disorder of protein N-glycosylation MONDO:0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0017359 Orphanet:352328 Orphanet:289902 3-methylglutaconic aciduria MONDO:0013877 mitochondrial pyruvate carrier deficiency MONDO:0016789 Orphanet:447784 Orphanet:254746 pyruvate metabolism disorder MONDO:0013881 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome MONDO:0017612 Orphanet:306504 Orphanet:305 junctional epidermolysis bullosa MONDO:0013885 Malan overgrowth syndrome MONDO:0019716 Orphanet:420179 Orphanet:93460 overgrowth syndrome MONDO:0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities MONDO:0019792 Orphanet:314647 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0013890 congenital myopathy with internal nuclei and atypical cores MONDO:0018947 Orphanet:319160 Orphanet:595 centronuclear myopathy MONDO:0013892 C3 glomerulonephritis MONDO:0018013 Orphanet:329931 Orphanet:329918 non-immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0013905 autosomal recessive spinocerebellar ataxia 13 MONDO:0018189 Orphanet:324262 Orphanet:363429 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome MONDO:0013907 bilateral generalized polymicrogyria MONDO:0017091 Orphanet:208447 Orphanet:268940 bilateral polymicrogyria MONDO:0013918 distal tetrasomy 15q MONDO:0017806 Orphanet:314588 Orphanet:314585 15q overgrowth syndrome MONDO:0013925 methylmalonic acidemia with homocystinuria, type cblJ MONDO:0016826 Orphanet:369955 Orphanet:26 methylmalonic aciduria and homocystinuria MONDO:0013928 dystonia 23 MONDO:0015990 Orphanet:420492 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 MONDO:0015363 Orphanet:314485 Orphanet:140468 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0013959 Charcot-Marie-Tooth disease type 4F MONDO:0018995 Orphanet:99952 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0013968 PGM1-congenital disorder of glycosylation MONDO:0017740 Orphanet:319646 Orphanet:309347 disorder of protein N-glycosylation MONDO:0013970 branched-chain keto acid dehydrogenase kinase deficiency MONDO:0019242 Orphanet:308410 Orphanet:79197 inborn disorder of branched-chain amino acid metabolism MONDO:0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0019046 Orphanet:314051 Orphanet:68356 leukodystrophy MONDO:0013972 Perrault syndrome 2 MONDO:0017312 Orphanet:642976 Orphanet:2855 Perrault syndrome MONDO:0013990 pontocerebellar hypoplasia type 8 MONDO:0020135 Orphanet:324569 Orphanet:98523 pontocerebellar hypoplasia MONDO:0013993 pontocerebellar hypoplasia type 7 MONDO:0020135 Orphanet:284339 Orphanet:98523 pontocerebellar hypoplasia MONDO:0013997 focal facial dermal dysplasia type IV MONDO:0018363 Orphanet:398189 Orphanet:398166 focal facial dermal dysplasia MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0018904 Orphanet:329903 Orphanet:54370 primary membranoproliferative glomerulonephritis MONDO:0014006 Schuurs-Hoeijmakers syndrome MONDO:0015159 Orphanet:329224 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014012 Charcot-Marie-Tooth disease axonal type 2Q MONDO:0018993 Orphanet:329258 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0014019 dystonia 24 MONDO:0015990 Orphanet:420485 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement MONDO:0018319 Orphanet:391389 Orphanet:391384 familial episodic pain syndrome MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0017749 Orphanet:329178 Orphanet:309526 disorder of multiple glycosylation MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0018276 Orphanet:329178 Orphanet:370953 muscular dystrophy-dystroglycanopathy MONDO:0014028 distal arthrogryposis type 5D MONDO:0019942 Orphanet:329457 Orphanet:97120 distal arthrogryposis MONDO:0014033 dystonia 25 MONDO:0015990 Orphanet:329466 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO:0015159 Orphanet:363686 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome MONDO:0015159 Orphanet:404473 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO:0015159 Orphanet:357175 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014070 oculocutaneous albinism type 7 MONDO:0018910 Orphanet:352745 Orphanet:55 oculocutaneous albinism MONDO:0014072 D,L-2-hydroxyglutaric aciduria MONDO:0016001 Orphanet:356978 Orphanet:19 2-hydroxyglutaric aciduria MONDO:0014074 Charcot-Marie-Tooth disease dominant intermediate F MONDO:0019548 Orphanet:352670 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0014077 cobblestone lissencephaly without muscular or ocular involvement MONDO:0018869 Orphanet:352682 Orphanet:51577 cobblestone lissencephaly MONDO:0014080 osteosclerotic metaphyseal dysplasia MONDO:0017198 Orphanet:500548 Orphanet:2781 osteopetrosis MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO:0020212 Orphanet:352662 Orphanet:98625 superficial corneal dystrophy MONDO:0014094 severe congenital hypochromic anemia with ringed sideroblasts MONDO:0020099 Orphanet:300298 Orphanet:98362 inherited sideroblastic anemia MONDO:0014098 CIDEC-related familial partial lipodystrophy MONDO:0020088 Orphanet:435651 Orphanet:98306 familial partial lipodystrophy MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity MONDO:0019046 Orphanet:363412 Orphanet:68356 leukodystrophy MONDO:0014117 Charcot-Marie-Tooth disease type 4B3 MONDO:0018995 Orphanet:363981 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MONDO:0018190 Orphanet:363454 Orphanet:363447 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0014127 oculocutaneous albinism type 5 MONDO:0018910 Orphanet:370091 Orphanet:55 oculocutaneous albinism MONDO:0014128 TCF12-related craniosynostosis MONDO:0015338 Orphanet:672979 Orphanet:139393 syndromic craniosynostosis MONDO:0014132 multiple mitochondrial dysfunctions syndrome 3 MONDO:0017338 Orphanet:363424 Orphanet:289573 fatal multiple mitochondrial dysfunctions syndrome MONDO:0014142 autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0015152 Orphanet:363623 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0014144 autosomal recessive limb-girdle muscular dystrophy type R18 MONDO:0015152 Orphanet:369840 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:0019952 Orphanet:363409 Orphanet:97245 congenital myopathy MONDO:0014154 Charcot-Marie-Tooth disease recessive intermediate C MONDO:0017058 Orphanet:369867 Orphanet:268337 autosomal recessive intermediate Charcot-Marie-Tooth disease MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0019303 Orphanet:363649 Orphanet:79389 premature aging syndrome MONDO:0014159 autosomal recessive spinocerebellar ataxia 14 MONDO:0015244 Orphanet:352403 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency MONDO:0018814 Orphanet:397959 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0017748 Orphanet:369837 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0014168 severe combined immunodeficiency due to CORO1A deficiency MONDO:0044200 Orphanet:228003 Orphanet:317416 T-B+ severe combined immunodeficiency MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0015159 Orphanet:371364 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0024237 Orphanet:371364 Orphanet:183500 inherited neurodegenerative disorder MONDO:0014185 chromosome 3q13.31 deletion syndrome MONDO:0016902 Orphanet:1621 Orphanet:262019 partial deletion of the long arm of chromosome 3 MONDO:0014196 Hartsfield-Bixler-Demyer syndrome MONDO:0015159 Orphanet:2117 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014198 mitochondrial DNA depletion syndrome 13 MONDO:0016796 Orphanet:369897 Orphanet:254803 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO:0014200 aldosterone-producing adenoma with seizures and neurological abnormalities MONDO:0016525 Orphanet:369929 Orphanet:371861 familial hyperaldosteronism MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO:0015159 Orphanet:352577 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0020480 Orphanet:308400 Orphanet:99732 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome MONDO:0015159 Orphanet:363611 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014221 triosephosphate isomerase deficiency MONDO:0017688 Orphanet:868 Orphanet:308459 disorder of glycolysis MONDO:0014234 reticulate acropigmentation of Kitamura MONDO:0019289 Orphanet:178307 Orphanet:79375 hyperpigmentation of the skin MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO:0015159 Orphanet:391307 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014247 familial episodic pain syndrome with predominantly lower limb involvement MONDO:0018319 Orphanet:391392 Orphanet:391384 familial episodic pain syndrome MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0017740 Orphanet:370943 Orphanet:309347 disorder of protein N-glycosylation MONDO:0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome MONDO:0019942 Orphanet:370943 Orphanet:97120 distal arthrogryposis MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0015159 Orphanet:508488 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014263 8q24.3 microdeletion syndrome MONDO:0016907 Orphanet:508488 Orphanet:262065 partial deletion of the long arm of chromosome 8 MONDO:0014270 STT3A-congenital disorder of glycosylation MONDO:0017740 Orphanet:370921 Orphanet:309347 disorder of protein N-glycosylation MONDO:0014271 STT3B-congenital disorder of glycosylation MONDO:0017740 Orphanet:370924 Orphanet:309347 disorder of protein N-glycosylation MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO:0015159 Orphanet:397951 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014274 L-ferritin deficiency MONDO:0005570 Orphanet:440731 Orphanet:97992 hematologic disorder MONDO:0014289 macrocephaly-developmental delay syndrome MONDO:0015159 Orphanet:397612 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014290 neurodegeneration with brain iron accumulation 6 MONDO:0018307 Orphanet:397725 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema MONDO:0019046 Orphanet:363540 Orphanet:68356 leukodystrophy MONDO:0014294 chromosome 15q11.2 deletion syndrome MONDO:0016913 Orphanet:261183 Orphanet:262119 partial deletion of the long arm of chromosome 15 MONDO:0014298 chromosome 5q12 deletion syndrome MONDO:0015159 Orphanet:439822 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0016382 Orphanet:221043 Orphanet:222628 hereditary poikiloderma MONDO:0014311 autosomal recessive spinocerebellar ataxia 15 MONDO:0018446 Orphanet:404499 Orphanet:404481 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0014317 pancytopenia-developmental delay syndrome MONDO:0001713 Orphanet:401764 Orphanet:68383 inherited aplastic anemia MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0019225 Orphanet:401948 Orphanet:79177 disorder of gluconeogenesis MONDO:0014334 severe combined immunodeficiency due to LCK deficiency MONDO:0017855 Orphanet:280142 Orphanet:317419 T-B- severe combined immunodeficiency MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0015159 Orphanet:404440 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014339 autosomal recessive spinocerebellar ataxia 16 MONDO:0015244 Orphanet:412057 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0014349 pontocerebellar hypoplasia type 10 MONDO:0020135 Orphanet:411493 Orphanet:98523 pontocerebellar hypoplasia MONDO:0014351 pontocerebellar hypoplasia type 9 MONDO:0020135 Orphanet:369920 Orphanet:98523 pontocerebellar hypoplasia MONDO:0014353 immunodeficiency 23 MONDO:0017749 Orphanet:443811 Orphanet:309526 disorder of multiple glycosylation MONDO:0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis MONDO:0019270 Orphanet:476096 Orphanet:79355 erythrokeratoderma MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO:0015159 Orphanet:352490 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0015159 Orphanet:411986 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014371 developmental and epileptic encephalopathy, 23 MONDO:0015653 Orphanet:411986 Orphanet:166472 monogenic epilepsy MONDO:0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder MONDO:0015159 Orphanet:404448 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome MONDO:0016073 Orphanet:424099 Orphanet:202948 syndromic microphthalmia MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 MONDO:0015762 Orphanet:480483 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome MONDO:0015159 Orphanet:404443 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014389 polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0002412 Orphanet:397937 Orphanet:79201 disorder of glycogen metabolism MONDO:0014391 severe combined immunodeficiency due to CTPS1 deficiency MONDO:0044201 Orphanet:420573 Orphanet:397802 T+ B+ severe combined immunodeficiency MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy MONDO:0020087 Orphanet:363400 Orphanet:98305 hereditary lipodystrophy MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy MONDO:0024237 Orphanet:363400 Orphanet:183500 inherited neurodegenerative disorder MONDO:0014403 short stature due to GHSR deficiency MONDO:0019824 Orphanet:314811 Orphanet:95488 non-acquired pituitary hormone deficiency MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0957408 Orphanet:425120 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0014410 spinocerebellar ataxia type 37 MONDO:0019792 Orphanet:363710 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:0018637 Orphanet:535458 Orphanet:444490 familial chylomicronemia syndrome MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0015159 Orphanet:434179 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0015375 Orphanet:434179 Orphanet:140997 orofaciodigital syndrome MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0019793 Orphanet:423296 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0014420 short stature due to primary acid-labile subunit deficiency MONDO:0015892 Orphanet:140941 Orphanet:181393 growth hormone insensitivity syndrome MONDO:0014421 glucocorticoid resistance MONDO:0015898 Orphanet:786 Orphanet:181412 adrenogenital syndrome MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0017855 Orphanet:317425 Orphanet:317419 T-B- severe combined immunodeficiency MONDO:0014431 LIPE-related familial partial lipodystrophy MONDO:0020088 Orphanet:435660 Orphanet:98306 familial partial lipodystrophy MONDO:0014452 familial dysfibrinogenemia MONDO:0018060 Orphanet:98881 Orphanet:335 congenital fibrinogen deficiency MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0015514 Orphanet:436174 Orphanet:156643 hereditary endocrine growth disease MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0028226 Orphanet:423384 Orphanet:439849 autosomal recessive severe congenital neutropenia MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:0019287 Orphanet:423454 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:0019289 Orphanet:423454 Orphanet:79375 hyperpigmentation of the skin MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0019046 Orphanet:431361 Orphanet:68356 leukodystrophy MONDO:0014466 Neu-Laxova syndrome 2 MONDO:0000179 Orphanet:583602 Orphanet:2671 Neu-Laxova syndrome MONDO:0014467 Charcot-Marie-Tooth disease recessive intermediate D MONDO:0017058 Orphanet:435998 Orphanet:268337 autosomal recessive intermediate Charcot-Marie-Tooth disease MONDO:0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome MONDO:0017953 Orphanet:436166 Orphanet:324924 hereditary periodic fever syndrome MONDO:0014474 autosomal recessive limb-girdle muscular dystrophy type 2U MONDO:0015152 Orphanet:352479 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0014475 spinocerebellar ataxia type 40 MONDO:0019792 Orphanet:423275 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0014476 episodic ataxia type 8 MONDO:0016227 Orphanet:401953 Orphanet:211062 hereditary episodic ataxia MONDO:0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome MONDO:0020099 Orphanet:369861 Orphanet:98362 inherited sideroblastic anemia MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0015152 Orphanet:445110 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:0016155 Orphanet:445110 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO:0014503 autosomal recessive spinocerebellar ataxia 17 MONDO:0020043 Orphanet:453521 Orphanet:98095 autosomal recessive congenital cerebellar ataxia MONDO:0014506 hypomyelinating leukodystrophy 9 MONDO:0019046 Orphanet:438114 Orphanet:68356 leukodystrophy MONDO:0014507 Catel-Manzke syndrome MONDO:0015159 Orphanet:1388 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014520 46,XX ovarian dysgenesis-short stature syndrome MONDO:0019852 Orphanet:444048 Orphanet:95710 inherited primary ovarian failure MONDO:0014521 progressive myoclonic epilepsy type 7 MONDO:0020074 Orphanet:435438 Orphanet:98261 progressive myoclonus epilepsy MONDO:0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0100309 Orphanet:445062 Orphanet:183518 hereditary ataxia MONDO:0014527 progeroid features-hepatocellular carcinoma predisposition syndrome MONDO:0015356 Orphanet:435953 Orphanet:140162 hereditary neoplastic syndrome MONDO:0014529 cerebellar-facial-dental syndrome MONDO:0015159 Orphanet:444072 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014530 autosomal recessive spinocerebellar ataxia 18 MONDO:0018189 Orphanet:363432 Orphanet:363429 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0009637 Orphanet:457050 Orphanet:206966 inborn mitochondrial myopathy MONDO:0014545 progressive myoclonic epilepsy type 8 MONDO:0020074 Orphanet:424027 Orphanet:98261 progressive myoclonus epilepsy MONDO:0014546 myopathy due to calsequestrin and SERCA1 protein overload MONDO:0016199 Orphanet:88635 Orphanet:209199 qualitative or quantitative defects of protein SERCA1 MONDO:0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome MONDO:0015168 Orphanet:439897 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0014555 peeling skin syndrome type A MONDO:0010033 Orphanet:263548 Orphanet:263543 generalized peeling skin syndrome MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0020047 Orphanet:459033 Orphanet:98099 autosomal recessive syndromic cerebellar ataxia MONDO:0014557 ataxia - oculomotor apraxia type 4 MONDO:0020127 Orphanet:459033 Orphanet:98497 hereditary peripheral neuropathy MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:0015159 Orphanet:457193 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0017359 Orphanet:445038 Orphanet:289902 3-methylglutaconic aciduria MONDO:0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0018151 Orphanet:457185 Orphanet:35656 coenzyme Q10 deficiency MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U MONDO:0018993 Orphanet:397735 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0014576 lipoyl transferase 1 deficiency MONDO:0018424 Orphanet:401862 Orphanet:401854 inherited lipoic acid biosynthesis defect MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 MONDO:0015159 Orphanet:397709 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014602 Hogue-Janssens syndrome 1 MONDO:0015159 Orphanet:457279 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014605 Houge-Janssens syndrome 2 MONDO:0015159 Orphanet:457284 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO:0015159 Orphanet:468678 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014608 mandibulofacial dysostosis with alopecia MONDO:0015483 Orphanet:443995 Orphanet:155899 mandibulofacial dysostosis MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0015159 Orphanet:444077 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0017338 Orphanet:457406 Orphanet:289573 fatal multiple mitochondrial dysfunctions syndrome MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0019046 Orphanet:457406 Orphanet:68356 leukodystrophy MONDO:0014626 spinocerebellar ataxia type 41 MONDO:0019793 Orphanet:458798 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0014627 dystonia 27 MONDO:0015990 Orphanet:464440 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0014630 familial adenomatous polyposis 3 MONDO:0016362 Orphanet:454840 Orphanet:220460 attenuated familial adenomatous polyposis MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO:0015159 Orphanet:464738 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014647 developmental and epileptic encephalopathy, 50 MONDO:0017749 Orphanet:448010 Orphanet:309526 disorder of multiple glycosylation MONDO:0014647 developmental and epileptic encephalopathy, 50 MONDO:0019238 Orphanet:448010 Orphanet:79193 inborn disorder of pyrimidine metabolism MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0019685 Orphanet:85165 Orphanet:93420 FGFR3-related chondrodysplasia MONDO:0014665 Charcot-Marie-Tooth disease axonal type 2V MONDO:0018993 Orphanet:447964 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0014685 progressive myoclonic epilepsy type 9 MONDO:0020074 Orphanet:457265 Orphanet:98261 progressive myoclonus epilepsy MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0019952 Orphanet:447974 Orphanet:97245 congenital myopathy MONDO:0014700 Au-Kline syndrome MONDO:0018681 Orphanet:453504 Orphanet:453499 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0014701 spondyloepiphyseal dysplasia, Stanescu type MONDO:0022800 Orphanet:459051 Orphanet:93421 type 2 collagenopathy MONDO:0014707 14q32 duplication syndrome MONDO:0016964 Orphanet:488280 Orphanet:262941 partial duplication of the long arm of chromosome 14 MONDO:0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W MONDO:0018993 Orphanet:488333 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO:0015159 Orphanet:457485 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014717 early-onset Lafora body disease MONDO:0020074 Orphanet:324290 Orphanet:98261 progressive myoclonus epilepsy MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0019236 Orphanet:457375 Orphanet:79191 inborn disorder of purine metabolism MONDO:0014719 developmental and epileptic encephalopathy, 35 MONDO:0024237 Orphanet:457375 Orphanet:183500 inherited neurodegenerative disorder MONDO:0014720 autosomal dominant optic atrophy plus syndrome MONDO:0020250 Orphanet:1215 Orphanet:98672 autosomal dominant optic atrophy MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO:0016967 Orphanet:477817 Orphanet:262968 partial duplication of the long arm of chromosome 17 MONDO:0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0018162 Orphanet:447997 Orphanet:35705 neurometabolic disorder due to serine deficiency MONDO:0014732 hypomyelinating leukodystrophy 12 MONDO:0019046 Orphanet:466934 Orphanet:68356 leukodystrophy MONDO:0014733 Charcot-Marie-Tooth disease type 4K MONDO:0018995 Orphanet:391351 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0014735 Charcot-Marie-Tooth disease type 2Y MONDO:0018993 Orphanet:435387 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z MONDO:0018993 Orphanet:466768 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0014741 DeSanto-Shinawi syndrome due to WAC point mutation MONDO:0018760 Orphanet:466950 Orphanet:466943 DeSanto-Shinawi syndrome MONDO:0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0020047 Orphanet:466794 Orphanet:98099 autosomal recessive syndromic cerebellar ataxia MONDO:0014746 SLC39A8-CDG MONDO:0015159 Orphanet:468699 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014746 SLC39A8-CDG MONDO:0017740 Orphanet:468699 Orphanet:309347 disorder of protein N-glycosylation MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0015159 Orphanet:457395 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0015159 Orphanet:477993 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:0015159 Orphanet:487796 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome MONDO:0018795 Orphanet:487796 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0015159 Orphanet:464282 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0015653 Orphanet:464282 Orphanet:166472 monogenic epilepsy MONDO:0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome MONDO:0015159 Orphanet:369891 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014775 combined oxidative phosphorylation deficiency 28 MONDO:0016801 Orphanet:466784 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0014776 spinocerebellar ataxia type 42 MONDO:0019793 Orphanet:458803 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0014781 combined oxidative phosphorylation deficiency 29 MONDO:0024237 Orphanet:478029 Orphanet:183500 inherited neurodegenerative disorder MONDO:0014782 autosomal recessive limb-girdle muscular dystrophy type 2X MONDO:0015152 Orphanet:476084 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO:0019952 Orphanet:467176 Orphanet:97245 congenital myopathy MONDO:0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome MONDO:0015159 Orphanet:466688 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014789 CCDC115-CDG MONDO:0017749 Orphanet:468684 Orphanet:309526 disorder of multiple glycosylation MONDO:0014790 TMEM199-CDG MONDO:0017749 Orphanet:466703 Orphanet:309526 disorder of multiple glycosylation MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO:0019240 Orphanet:488168 Orphanet:79195 sterol biosynthesis disorder MONDO:0014800 progressive scapulohumeroperoneal distal myopathy MONDO:0016106 Orphanet:447977 Orphanet:206644 progressive muscular dystrophy MONDO:0014801 even-plus syndrome MONDO:0015161 Orphanet:496751 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0014803 spasticity-ataxia-gait anomalies syndrome MONDO:0017845 Orphanet:401866 Orphanet:316226 spastic ataxia MONDO:0014803 spasticity-ataxia-gait anomalies syndrome MONDO:0018424 Orphanet:401866 Orphanet:401854 inherited lipoic acid biosynthesis defect MONDO:0014804 sideroblastic anemia 3 MONDO:0016801 Orphanet:255132 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0014816 split-foot malformation-mesoaxial polydactyly syndrome MONDO:0015161 Orphanet:488232 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0014822 15q14 microdeletion syndrome MONDO:0016913 Orphanet:261190 Orphanet:262119 partial deletion of the long arm of chromosome 15 MONDO:0014832 intellectual disability, autosomal recessive 53 MONDO:0017748 Orphanet:488635 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0014837 thrombocytopenia 6 MONDO:0018795 Orphanet:480851 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0014837 thrombocytopenia 6 MONDO:0020076 Orphanet:480851 Orphanet:98274 myeloproliferative neoplasm MONDO:0014846 spinocerebellar ataxia, autosomal recessive 23 MONDO:0018446 Orphanet:404493 Orphanet:404481 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO:0015159 Orphanet:488642 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014864 hypermanganesemia with dystonia 2 MONDO:0017766 Orphanet:521406 Orphanet:309851 disorder of manganese transport MONDO:0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency MONDO:0028226 Orphanet:420702 Orphanet:439849 autosomal recessive severe congenital neutropenia MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0015929 Orphanet:464366 Orphanet:182108 thoracic malformation MONDO:0014870 NEK9-related lethal skeletal dysplasia MONDO:0019691 Orphanet:464366 Orphanet:93426 short rib dysplasia MONDO:0014875 hyperaldosteronism, familial, type IV MONDO:0016525 Orphanet:642671 Orphanet:235936 familial hyperaldosteronism MONDO:0014881 transketolase deficiency MONDO:0015159 Orphanet:488618 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014881 transketolase deficiency MONDO:0019231 Orphanet:488618 Orphanet:79186 inborn disorder of pentose phosphate metabolism MONDO:0014884 cholestasis, progressive familial intrahepatic, 5 MONDO:0015762 Orphanet:480476 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:0015159 Orphanet:488627 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO:0019289 Orphanet:488627 Orphanet:79375 hyperpigmentation of the skin MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO:0015159 Orphanet:476126 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome MONDO:0019950 Orphanet:486815 Orphanet:97242 congenital muscular dystrophy MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y MONDO:0015152 Orphanet:424261 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 MONDO:0054865 Orphanet:485421 Orphanet:527276 encephalopathy due to mitochondrial and peroxisomal fission defect MONDO:0014912 autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive MONDO:0017953 Orphanet:500062 Orphanet:324924 hereditary periodic fever syndrome MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome MONDO:0015159 Orphanet:500095 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014936 ZTTK syndrome MONDO:0015159 Orphanet:500150 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0015159 Orphanet:464288 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO:0019695 Orphanet:464288 Orphanet:93436 acromelic dysplasia MONDO:0014969 isolated sedoheptulokinase deficiency MONDO:0019231 Orphanet:440713 Orphanet:79186 inborn disorder of pentose phosphate metabolism MONDO:0014977 autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0015152 Orphanet:480682 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0018424 Orphanet:508093 Orphanet:401854 inherited lipoic acid biosynthesis defect MONDO:0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities MONDO:0024237 Orphanet:508093 Orphanet:183500 inherited neurodegenerative disorder MONDO:0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015087 Orphanet:521390 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0015010 atypical glycine encephalopathy MONDO:0011612 Orphanet:289863 Orphanet:407 glycine encephalopathy MONDO:0015012 mucopolysaccharidosis-plus syndrome MONDO:0015159 Orphanet:505248 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015021 hypotonia, ataxia, and delayed development syndrome MONDO:0015159 Orphanet:658843 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015027 familial isolated hyperparathyroidism MONDO:0016365 Orphanet:99879 Orphanet:2207 familial primary hyperparathyroidism MONDO:0015028 48,XXYY syndrome MONDO:0017975 Orphanet:10 Orphanet:325546 sex chromosome disorder of sex development MONDO:0015029 reticular perineurioma MONDO:0015031 Orphanet:100000 Orphanet:100002 extraneural perineurioma MONDO:0015030 sclerosing perineurioma MONDO:0015031 Orphanet:100001 Orphanet:100002 extraneural perineurioma MONDO:0015031 extraneural perineurioma MONDO:0019404 Orphanet:100002 Orphanet:85102 perineurioma MONDO:0015032 intraneural perineurioma MONDO:0019404 Orphanet:100003 Orphanet:85102 perineurioma MONDO:0015034 lissencephaly with cerebellar hypoplasia type A MONDO:0019450 Orphanet:100011 Orphanet:86823 lissencephaly with cerebellar hypoplasia MONDO:0015035 lissencephaly with cerebellar hypoplasia type B MONDO:0019450 Orphanet:100012 Orphanet:86823 lissencephaly with cerebellar hypoplasia MONDO:0015036 lissencephaly with cerebellar hypoplasia type C MONDO:0019450 Orphanet:100013 Orphanet:86823 lissencephaly with cerebellar hypoplasia MONDO:0015037 lissencephaly with cerebellar hypoplasia type D MONDO:0019450 Orphanet:100014 Orphanet:86823 lissencephaly with cerebellar hypoplasia MONDO:0015038 lissencephaly with cerebellar hypoplasia type E MONDO:0019450 Orphanet:100015 Orphanet:86823 lissencephaly with cerebellar hypoplasia MONDO:0015039 lissencephaly with cerebellar hypoplasia type F MONDO:0019450 Orphanet:100016 Orphanet:86823 lissencephaly with cerebellar hypoplasia MONDO:0015040 myelodysplastic syndrome with excess blasts-1 MONDO:0019454 Orphanet:100019 Orphanet:86839 myelodysplastic syndrome with excess blasts MONDO:0015041 myelodysplastic syndrome with excess blasts-2 MONDO:0019454 Orphanet:100020 Orphanet:86839 myelodysplastic syndrome with excess blasts MONDO:0015042 primary plasmacytoma of the bone MONDO:0005615 Orphanet:100021 Orphanet:86855 plasmacytoma MONDO:0015043 extramedullary soft tissue plasmacytoma MONDO:0005615 Orphanet:100022 Orphanet:86855 plasmacytoma MONDO:0015044 mu-heavy chain disease MONDO:0019464 Orphanet:100024 Orphanet:86864 heavy chain disease MONDO:0015045 alpha-heavy chain disease MONDO:0019464 Orphanet:100025 Orphanet:86864 heavy chain disease MONDO:0015046 gamma-heavy chain disease MONDO:0019464 Orphanet:100026 Orphanet:86864 heavy chain disease MONDO:0015047 amelogenesis imperfecta type 1 MONDO:0019507 Orphanet:100031 Orphanet:88661 amelogenesis imperfecta MONDO:0015048 amelogenesis imperfecta type 2 MONDO:0019507 Orphanet:100033 Orphanet:88661 amelogenesis imperfecta MONDO:0015053 hereditary angioedema type 1 MONDO:0033946 Orphanet:100050 Orphanet:528623 hereditary angioedema with C1Inh deficiency MONDO:0015054 hereditary angioedema type 2 MONDO:0033946 Orphanet:100051 Orphanet:528623 hereditary angioedema with C1Inh deficiency MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema MONDO:0019624 Orphanet:100057 Orphanet:91385 acquired angioedema MONDO:0015061 neurogenic thoracic outlet syndrome MONDO:0005979 Orphanet:100073 Orphanet:97330 thoracic outlet syndrome MONDO:0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0018511 Orphanet:100079 Orphanet:423982 epithelial tumor of the appendix MONDO:0015079 multiple polyglandular tumor MONDO:0015126 Orphanet:100094 Orphanet:101956 polyendocrinopathy MONDO:0015082 alopecia antibody deficiency MONDO:0004907 Orphanet:1006 Orphanet:79364 alopecia MONDO:0015085 bathing suit ichthyosis MONDO:0017265 Orphanet:100976 Orphanet:281097 autosomal recessive congenital ichthyosis MONDO:0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome MONDO:0015338 Orphanet:100978 Orphanet:139393 syndromic craniosynostosis MONDO:0015087 autosomal dominant complex spastic paraplegia MONDO:0015150 Orphanet:100979 Orphanet:102013 complex hereditary spastic paraplegia MONDO:0015092 cleft hard palate MONDO:0016064 Orphanet:101023 Orphanet:2014 cleft palate MONDO:0015093 sub-cortical nodular heterotopia MONDO:0016292 Orphanet:101029 Orphanet:2149 nodular neuronal heterotopia MONDO:0015094 subependymal nodular heterotopia MONDO:0016292 Orphanet:101030 Orphanet:2149 nodular neuronal heterotopia MONDO:0015097 aortic valve dysplasia MONDO:0017735 Orphanet:101043 Orphanet:3093 congenital aortic valve stenosis MONDO:0015099 unilateral hemispheric polymicrogyria MONDO:0017092 Orphanet:101071 Orphanet:268943 unilateral polymicrogyria MONDO:0015101 Marin-Amat syndrome MONDO:0007946 Orphanet:101104 Orphanet:91412 jaw-winking syndrome MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome MONDO:0020064 Orphanet:101206 Orphanet:982 pulmonary valve agenesis MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus MONDO:0019817 Orphanet:101932 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0015129 chronic primary adrenal insufficiency MONDO:0015128 Orphanet:101959 Orphanet:101958 primary adrenal insufficiency MONDO:0015137 periodic fever syndrome MONDO:0019751 Orphanet:101995 Orphanet:93665 autoinflammatory syndrome MONDO:0015146 classic lissencephaly MONDO:0018838 Orphanet:102009 Orphanet:48471 lissencephaly spectrum disorders MONDO:0015148 lissencephaly type 3 MONDO:0018838 Orphanet:102011 Orphanet:48471 lissencephaly spectrum disorders MONDO:0015149 pure hereditary spastic paraplegia MONDO:0019064 Orphanet:102012 Orphanet:685 hereditary spastic paraplegia MONDO:0015150 complex hereditary spastic paraplegia MONDO:0019064 Orphanet:102013 Orphanet:685 hereditary spastic paraplegia MONDO:0015151 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0016971 Orphanet:102014 Orphanet:263 limb-girdle muscular dystrophy MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy MONDO:0016971 Orphanet:102015 Orphanet:263 limb-girdle muscular dystrophy MONDO:0015157 human herpesvirus 8-related tumor MONDO:0017341 Orphanet:102024 Orphanet:289635 virus associated tumor MONDO:0015158 unexplained periodic fever syndrome MONDO:0015137 Orphanet:102237 Orphanet:101995 periodic fever syndrome MONDO:0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019042 Orphanet:102283 Orphanet:68341 multiple congenital anomalies/dysmorphic syndrome MONDO:0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019042 Orphanet:102285 Orphanet:68341 multiple congenital anomalies/dysmorphic syndrome MONDO:0015164 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent MONDO:0019457 Orphanet:102379 Orphanet:86846 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0015165 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor MONDO:0019457 Orphanet:102381 Orphanet:86846 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0015168 arthrogryposis multiplex congenita MONDO:0015225 Orphanet:1037 Orphanet:109007 arthrogryposis syndrome MONDO:0015169 chronic diarrhea due to glucoamylase deficiency MONDO:0017706 Orphanet:103907 Orphanet:309001 disorder of carbohydrate transmembrane transport and absorption MONDO:0015191 myopathic intestinal pseudoobstruction MONDO:0017574 Orphanet:104077 Orphanet:2978 chronic intestinal pseudoobstruction MONDO:0015193 hydrops fetalis MONDO:0019755 Orphanet:1041 Orphanet:93890 developmental defect during embryogenesis MONDO:0015195 atresia of urethra MONDO:0018559 Orphanet:105 Orphanet:435365 fetal lower urinary tract obstruction MONDO:0015203 coronary artery congenital malformation MONDO:0019512 Orphanet:1081 Orphanet:88991 congenital heart malformation MONDO:0015204 microlissencephaly MONDO:0018838 Orphanet:1083 Orphanet:48471 lissencephaly spectrum disorders MONDO:0015205 isolated lissencephaly type 1 without known genetic defects MONDO:0015146 Orphanet:1084 Orphanet:102009 classic lissencephaly MONDO:0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome MONDO:0015161 Orphanet:1101 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015231 Bartter syndrome MONDO:0015962 Orphanet:112 Orphanet:183592 inherited renal tubular disease MONDO:0015233 caudal appendage-deafness syndrome MONDO:0015159 Orphanet:1123 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO:0015159 Orphanet:1129 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015236 aortic arch defects MONDO:0020292 Orphanet:1132 Orphanet:98724 congenital anomaly of the great arteries MONDO:0015239 abnormal origin of the pulmonary artery MONDO:0016581 Orphanet:1138 Orphanet:2445 conotruncal heart malformations MONDO:0015240 digitotalar dysmorphism MONDO:0015161 Orphanet:1146 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015240 digitotalar dysmorphism MONDO:0019942 Orphanet:1146 Orphanet:97120 distal arthrogryposis MONDO:0015241 arthrogryposis-like syndrome MONDO:0015168 Orphanet:1149 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0015247 opsoclonus-myoclonus syndrome MONDO:0018215 Orphanet:1183 Orphanet:36388 paraneoplastic neurologic syndrome MONDO:0015248 ataxia-photosensitivity-short stature syndrome MONDO:0015159 Orphanet:1184 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015249 mitral atresia disorder MONDO:0019817 Orphanet:1205 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome MONDO:0015159 Orphanet:1236 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015252 severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome MONDO:0100309 Orphanet:1236 Orphanet:183518 hereditary ataxia MONDO:0015253 Diamond-Blackfan anemia MONDO:0001713 Orphanet:124 Orphanet:68383 inherited aplastic anemia MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome MONDO:0015159 Orphanet:1277 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015261 pseudopelade of Brocq MONDO:0004907 Orphanet:129 Orphanet:79364 alopecia MONDO:0015262 brachyolmia MONDO:0019694 Orphanet:1293 Orphanet:93434 spondylodysplastic dysplasia MONDO:0015264 cryptogenic organizing pneumonia MONDO:0002429 Orphanet:1302 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0015270 butyrylcholinesterase deficiency MONDO:0019253 Orphanet:132 Orphanet:79219 metabolic disease involving other neurotransmitter deficiency MONDO:0015271 idiopathic camptocormia MONDO:0016105 Orphanet:1320 Orphanet:206638 acquired skeletal muscle disease MONDO:0015273 complete atrioventricular canal MONDO:0020290 Orphanet:1329 Orphanet:98722 familial atrioventricular septal defect MONDO:0015274 chronic beryllium disease MONDO:0015926 Orphanet:133 Orphanet:182098 pneumoconiosis MONDO:0015275 partial atrioventricular canal MONDO:0020290 Orphanet:1330 Orphanet:98722 familial atrioventricular septal defect MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0015159 Orphanet:1340 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0019287 Orphanet:1340 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0015280 cardiofaciocutaneous syndrome MONDO:0020297 Orphanet:1340 Orphanet:98733 Noonan syndrome and Noonan-related syndrome MONDO:0015281 atrial standstill MONDO:0016340 Orphanet:1344 Orphanet:217635 familial restrictive cardiomyopathy MONDO:0015284 heart-hand syndrome type 2 MONDO:0015161 Orphanet:1350 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015284 heart-hand syndrome type 2 MONDO:0016432 Orphanet:1350 Orphanet:228184 heart-hand syndrome MONDO:0015286 congenital disorder of glycosylation MONDO:0019052 Orphanet:137 Orphanet:68367 inborn errors of metabolism MONDO:0015289 infectious epithelial keratitis MONDO:0023865 Orphanet:137593 Orphanet:519278 corneal infection MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:0017623 Orphanet:137608 Orphanet:306498 PTEN hamartoma tumor syndrome MONDO:0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome MONDO:0019716 Orphanet:137608 Orphanet:93460 overgrowth syndrome MONDO:0015301 primary cutaneous amyloidosis MONDO:0021154 Orphanet:137807 Orphanet:79381 dermis disorder MONDO:0015302 nodular cutaneous amyloidosis MONDO:0015301 Orphanet:137810 Orphanet:137807 primary cutaneous amyloidosis MONDO:0015303 macular amyloidosis MONDO:0015301 Orphanet:137814 Orphanet:137807 primary cutaneous amyloidosis MONDO:0015312 choanal atresia, unilateral MONDO:0012155 Orphanet:137917 Orphanet:137914 choanal atresia MONDO:0015313 choanal atresia, bilateral MONDO:0012155 Orphanet:137920 Orphanet:137914 choanal atresia MONDO:0015317 laryngotracheal angioma MONDO:0016223 Orphanet:137935 Orphanet:210589 infantile hemangioma of rare localization MONDO:0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome MONDO:0015159 Orphanet:1381 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015325 cataract-deafness-hypogonadism syndrome MONDO:0015159 Orphanet:1383 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015326 night blindness-skeletal anomalies-dysmorphism syndrome MONDO:0015161 Orphanet:1390 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015327 developmental anomaly of metabolic origin MONDO:0019755 Orphanet:139009 Orphanet:93890 developmental defect during embryogenesis MONDO:0015333 progeroid syndrome MONDO:0019755 Orphanet:139033 Orphanet:93890 developmental defect during embryogenesis MONDO:0015337 isolated craniosynostosis MONDO:0015469 Orphanet:139390 Orphanet:1531 craniosynostosis MONDO:0015338 syndromic craniosynostosis MONDO:0015469 Orphanet:139393 Orphanet:1531 craniosynostosis MONDO:0015339 adrenomyeloneuropathy MONDO:0018544 Orphanet:139399 Orphanet:43 adrenoleukodystrophy MONDO:0015340 drug rash with eosinophilia and systemic symptoms MONDO:0017396 Orphanet:139402 Orphanet:293815 toxic dermatosis MONDO:0015344 idiopathic acute transverse myelitis MONDO:0015342 Orphanet:139423 Orphanet:139417 acute transverse myelitis MONDO:0015345 perioral myoclonia with absences MONDO:0020072 Orphanet:139426 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0015347 multicentric reticulohistiocytosis MONDO:0015531 Orphanet:139436 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts MONDO:0019046 Orphanet:139444 Orphanet:68356 leukodystrophy MONDO:0015349 progressive cavitating leukoencephalopathy MONDO:0019046 Orphanet:139447 Orphanet:68356 leukodystrophy MONDO:0015350 17q11.2 microduplication syndrome MONDO:0016967 Orphanet:139474 Orphanet:262968 partial duplication of the long arm of chromosome 17 MONDO:0015352 distal hereditary motor neuropathy type 2 MONDO:0015362 Orphanet:139525 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015355 distal hereditary motor neuropathy type 7 MONDO:0015362 Orphanet:139589 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0015362 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0018894 Orphanet:140465 Orphanet:53739 distal hereditary motor neuropathy MONDO:0015363 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0018894 Orphanet:140468 Orphanet:53739 distal hereditary motor neuropathy MONDO:0015364 hereditary sensory and autonomic neuropathy MONDO:0020127 Orphanet:140471 Orphanet:98497 hereditary peripheral neuropathy MONDO:0015367 Charlie M syndrome MONDO:0015161 Orphanet:1406 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0015367 Charlie M syndrome MONDO:0017139 Orphanet:1406 Orphanet:2749 oromandibular-limb hypogenesis syndrome MONDO:0015369 Joubert syndrome and related disorders MONDO:0020043 Orphanet:140874 Orphanet:98095 autosomal recessive congenital cerebellar ataxia MONDO:0015371 linear atrophoderma of Moulin MONDO:0021154 Orphanet:140933 Orphanet:79381 dermis disorder MONDO:0015375 orofaciodigital syndrome MONDO:0015498 Orphanet:140997 Orphanet:156215 oromandibular-limb anomalies syndrome MONDO:0015376 first branchial cleft anomaly MONDO:0015476 Orphanet:141013 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015377 third branchial cleft anomaly MONDO:0015476 Orphanet:141030 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015378 fourth branchial cleft anomaly MONDO:0015476 Orphanet:141037 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015379 cervical dermoid cyst MONDO:0015476 Orphanet:141046 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015380 facial dermoid cyst MONDO:0015476 Orphanet:141051 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015381 commissural lip fistula MONDO:0015476 Orphanet:141061 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015382 lower lip fistula MONDO:0015476 Orphanet:141064 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015383 cervicofacial fibrochondroma MONDO:0015476 Orphanet:141067 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015384 digestive duplication cyst of the tongue MONDO:0015476 Orphanet:141071 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015386 epignathus MONDO:0019500 Orphanet:141077 Orphanet:883 extragonadal teratoma MONDO:0015391 nasopharyngeal teratoma MONDO:0019500 Orphanet:141107 Orphanet:883 extragonadal teratoma MONDO:0015393 nasal ganglioglioma MONDO:0016733 Orphanet:141115 Orphanet:251949 ganglioglioma MONDO:0015394 nasal encephalocele MONDO:0016057 Orphanet:141118 Orphanet:199647 isolated encephalocele MONDO:0015399 glossopalatine ankylosis MONDO:0017139 Orphanet:141163 Orphanet:2749 oromandibular-limb hypogenesis syndrome MONDO:0015400 frontonasal arteriovenous malformation MONDO:0015500 Orphanet:141168 Orphanet:156230 facial arteriovenous malformation MONDO:0015401 maxillary arteriovenous malformation MONDO:0015500 Orphanet:141171 Orphanet:156230 facial arteriovenous malformation MONDO:0015402 mandibular arteriovenous malformation MONDO:0015500 Orphanet:141174 Orphanet:156230 facial arteriovenous malformation MONDO:0015403 non-involuting congenital hemangioma MONDO:0018715 Orphanet:141179 Orphanet:458775 congenital hemangioma MONDO:0015404 rapidly involuting congenital hemangioma MONDO:0018715 Orphanet:141184 Orphanet:458775 congenital hemangioma MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 MONDO:0015405 Orphanet:141194 Orphanet:141189 cerebrofacial arteriovenous metameric syndrome MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 MONDO:0015405 Orphanet:141199 Orphanet:141189 cerebrofacial arteriovenous metameric syndrome MONDO:0015408 diffuse lymphatic malformation MONDO:0002013 Orphanet:141209 Orphanet:2415 lymphangioma MONDO:0015410 nasal dorsum fistula/cyst MONDO:0015476 Orphanet:141219 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015427 paroxysmal dyskinesia MONDO:0016058 Orphanet:1431 Orphanet:200037 paroxysmal dystonia MONDO:0015428 choroidal atrophy-alopecia syndrome MONDO:0019287 Orphanet:1433 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0015447 differentiated thyroid carcinoma MONDO:0015075 Orphanet:146 Orphanet:100088 thyroid gland carcinoma MONDO:0015449 criss-cross heart MONDO:0019512 Orphanet:1461 Orphanet:88991 congenital heart malformation MONDO:0015451 univentricular heart MONDO:0019820 Orphanet:1464 Orphanet:95483 univentricular cardiopathy MONDO:0015452 Coffin-Siris syndrome MONDO:0015159 Orphanet:1465 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015454 multiple carboxylase deficiency MONDO:0019215 Orphanet:148 Orphanet:79163 classic organic aciduria MONDO:0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome MONDO:0015159 Orphanet:1495 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015459 nasopharyngeal carcinoma MONDO:0017344 Orphanet:150 Orphanet:289651 Epstein-Barr virus-associated carcinoma MONDO:0015461 short rib-polydactyly syndrome MONDO:0015929 Orphanet:1505 Orphanet:182108 thoracic malformation MONDO:0015461 short rib-polydactyly syndrome MONDO:0019691 Orphanet:1505 Orphanet:93426 short rib dysplasia MONDO:0015463 craniodigital syndrome-intellectual disability syndrome MONDO:0015159 Orphanet:1514 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome MONDO:0015856 Orphanet:1521 Orphanet:180193 syndromic breast hypoplasia/aplasia MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome MONDO:0016643 Orphanet:1521 Orphanet:250 frontonasal dysplasia MONDO:0015466 cranio-osteoarthropathy MONDO:0016620 Orphanet:1525 Orphanet:248095 primary hypertrophic osteoarthropathy MONDO:0015467 craniosynostosis, Philadelphia type MONDO:0015338 Orphanet:1527 Orphanet:139393 syndromic craniosynostosis MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO:0015159 Orphanet:1548 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015477 pinnae fistula or cyst MONDO:0015476 Orphanet:155838 Orphanet:155835 cysts and fistulae of the face and oral cavity MONDO:0015479 submucosal cleft palate MONDO:0016064 Orphanet:155878 Orphanet:2014 cleft palate MONDO:0015494 isolated dystonia MONDO:0044807 Orphanet:156159 Orphanet:391799 inherited dystonia MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO:0017716 Orphanet:157 Orphanet:309130 disorder of carnitine cycle and carnitine transport MONDO:0015517 common variable immunodeficiency MONDO:0015356 Orphanet:1572 Orphanet:140162 hereditary neoplastic syndrome MONDO:0015519 congenital or early infantile CACH syndrome MONDO:0800448 Orphanet:157713 Orphanet:135 leukoencephalopathy with vanishing white matter MONDO:0015520 late infantile CACH syndrome MONDO:0800448 Orphanet:157716 Orphanet:135 leukoencephalopathy with vanishing white matter MONDO:0015521 juvenile or adult CACH syndrome MONDO:0800448 Orphanet:157719 Orphanet:135 leukoencephalopathy with vanishing white matter MONDO:0015523 epithelioid hemangioendothelioma MONDO:0002095 Orphanet:157791 Orphanet:673466 vascular cancer MONDO:0015524 hyperplastic polyposis syndrome MONDO:0015185 Orphanet:157798 Orphanet:104010 intestinal polyposis syndrome MONDO:0015526 cold-induced sweating syndrome MONDO:0018431 Orphanet:157820 Orphanet:401993 cold-induced sweating syndrome - hyperthermia spectrum MONDO:0015529 paroxysmal Hemicrania MONDO:0015530 Orphanet:157835 Orphanet:157843 trigeminal autonomic cephalalgia MONDO:0015532 generalized eruptive histiocytosis MONDO:0015531 Orphanet:157991 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015533 benign cephalic histiocytosis MONDO:0015531 Orphanet:157997 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015534 juvenile xanthogranuloma MONDO:0015531 Orphanet:158000 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015535 xanthoma disseminatum MONDO:0015531 Orphanet:158003 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015536 papular xanthoma MONDO:0015531 Orphanet:158008 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015537 necrobiotic xanthogranuloma MONDO:0015531 Orphanet:158011 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015538 indeterminate dendritic cell tumor MONDO:0015531 Orphanet:158019 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015539 progressive nodular histiocytosis MONDO:0015531 Orphanet:158022 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015542 secondary hemophagocytic lymphohistiocytosis MONDO:0015540 Orphanet:158041 Orphanet:158032 hemophagocytic syndrome MONDO:0015544 acquired hemophagocytic lymphohistiocytosis associated with malignant disease MONDO:0015542 Orphanet:158057 Orphanet:158041 secondary hemophagocytic lymphohistiocytosis MONDO:0015545 macrophage activation syndrome MONDO:0015542 Orphanet:158061 Orphanet:158041 secondary hemophagocytic lymphohistiocytosis MONDO:0015546 non-distal monosomy 10q MONDO:0016909 Orphanet:1581 Orphanet:262083 partial monosomy of the long arm of chromosome 10 MONDO:0015554 typical urticaria pigmentosa MONDO:0019316 Orphanet:158766 Orphanet:79457 maculopapular cutaneous mastocytosis MONDO:0015555 plaque-form urticaria pigmentosa MONDO:0019316 Orphanet:158769 Orphanet:79457 maculopapular cutaneous mastocytosis MONDO:0015556 nodular urticaria pigmentosa MONDO:0019316 Orphanet:158772 Orphanet:79457 maculopapular cutaneous mastocytosis MONDO:0015562 distal monosomy 17q MONDO:0016915 Orphanet:1597 Orphanet:262137 partial deletion of the long arm of chromosome 17 MONDO:0015566 2q24 microdeletion syndrome MONDO:0016901 Orphanet:1617 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0015570 isolated congenital auditory ossicle malformation MONDO:0015604 Orphanet:162526 Orphanet:164004 middle ear anomaly MONDO:0015571 deletion 5q35 MONDO:0016904 Orphanet:1627 Orphanet:262038 partial deletion of the long arm of chromosome 5 MONDO:0015580 distal monosomy 7q36 MONDO:0016906 Orphanet:1636 Orphanet:262056 partial deletion of the long arm of chromosome 7 MONDO:0015585 cryptogenic late-onset epileptic spasms MONDO:0020072 Orphanet:163708 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0015587 rolandic epilepsy-speech dyspraxia syndrome MONDO:0020072 Orphanet:163721 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0015606 Xp22.3 microdeletion syndrome MONDO:0017004 Orphanet:1643 Orphanet:263731 partial monosomy of the short arm of chromosome X MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation MONDO:0019457 Orphanet:164726 Orphanet:86846 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0015610 acquired aplastic anemia MONDO:0015909 Orphanet:164823 Orphanet:182040 aplastic anemia MONDO:0015614 dermatitis herpetiformis MONDO:0019337 Orphanet:1656 Orphanet:79669 autoimmune bullous skin disease MONDO:0015622 wound myiasis MONDO:0020568 Orphanet:165955 Orphanet:99983 cutaneous myiasis MONDO:0015623 cavitary myiasis MONDO:0019147 Orphanet:165958 Orphanet:75110 myiasis MONDO:0015624 diazoxide-sensitive diffuse hyperinsulinism MONDO:0019010 Orphanet:165985 Orphanet:657 congenital isolated hyperinsulinism MONDO:0015625 diazoxide-resistant diffuse hyperinsulinism MONDO:0017186 Orphanet:165988 Orphanet:276585 diazoxide-resistant hyperinsulinism MONDO:0015626 Charcot-Marie-Tooth disease MONDO:0020127 Orphanet:166 Orphanet:98497 hereditary peripheral neuropathy MONDO:0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly MONDO:0016648 Orphanet:166002 Orphanet:251 multiple epiphyseal dysplasia MONDO:0015628 von Willebrand disease type 2A MONDO:0013304 Orphanet:166084 Orphanet:166081 von Willebrand disease 2 MONDO:0015629 von Willebrand disease type 2B MONDO:0013304 Orphanet:166087 Orphanet:166081 von Willebrand disease 2 MONDO:0015630 von Willebrand disease type 2M MONDO:0013304 Orphanet:166090 Orphanet:166081 von Willebrand disease 2 MONDO:0015631 von Willebrand disease type 2N MONDO:0013304 Orphanet:166093 Orphanet:166081 von Willebrand disease 2 MONDO:0015636 dirofilariasis MONDO:0016075 Orphanet:166291 Orphanet:2034 filariasis MONDO:0015640 benign infantile seizures associated with mild gastroenteritis MONDO:0015642 Orphanet:166305 Orphanet:166311 benign partial infantile seizures MONDO:0015641 benign infantile focal epilepsy with midline spikes and wave during sleep MONDO:0015642 Orphanet:166308 Orphanet:166311 benign partial infantile seizures MONDO:0015642 benign partial infantile seizures MONDO:0020071 Orphanet:166311 Orphanet:98258 infantile epilepsy syndrome MONDO:0015644 audiogenic seizures MONDO:0017768 Orphanet:166415 Orphanet:310 reflex epilepsy MONDO:0015645 eating seizures MONDO:0017768 Orphanet:166418 Orphanet:310 reflex epilepsy MONDO:0015646 orgasm-induced seizures MONDO:0017768 Orphanet:166421 Orphanet:310 reflex epilepsy MONDO:0015647 thinking seizures MONDO:0017768 Orphanet:166424 Orphanet:310 reflex epilepsy MONDO:0015648 startle epilepsy MONDO:0017768 Orphanet:166427 Orphanet:310 reflex epilepsy MONDO:0015649 micturation-induced seizures MONDO:0017768 Orphanet:166430 Orphanet:310 reflex epilepsy MONDO:0015661 dextrocardia MONDO:0018677 Orphanet:1666 Orphanet:450 visceral heterotaxy MONDO:0015665 scleromyxedema MONDO:0018432 Orphanet:167635 Orphanet:402007 lichen myxedematosus MONDO:0015667 acute myeloid leukemia by FAB classification MONDO:0018874 Orphanet:167714 Orphanet:519 acute myeloid leukemia MONDO:0015677 cardiac diverticulum MONDO:0019512 Orphanet:1686 Orphanet:88991 congenital heart malformation MONDO:0015687 chronic eosinophilic leukemia MONDO:0020076 Orphanet:168940 Orphanet:98274 myeloproliferative neoplasm MONDO:0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015756 Orphanet:168943 Orphanet:171895 myeloid hemopathy MONDO:0015689 myeloid neoplasm associated with PDGFRA rearrangement MONDO:0015688 Orphanet:168947 Orphanet:168943 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015690 myeloid neoplasm associated with PDGFRB rearrangement MONDO:0015688 Orphanet:168950 Orphanet:168943 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0015691 hypereosinophilic syndrome MONDO:0016345 Orphanet:168956 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0015692 refractory anemia with excess blasts in transformation MONDO:0018881 Orphanet:168960 Orphanet:52688 myelodysplastic syndrome MONDO:0015696 Good syndrome MONDO:0017769 Orphanet:169105 Orphanet:310050 acquired immunodeficiency MONDO:0015699 immunodeficiency due to a classical component pathway complement deficiency MONDO:0003832 Orphanet:169147 Orphanet:459345 complement deficiency MONDO:0015700 immunodeficiency due to a late component of complement deficiency MONDO:0003832 Orphanet:169150 Orphanet:459345 complement deficiency MONDO:0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency MONDO:0044200 Orphanet:169154 Orphanet:317416 T-B+ severe combined immunodeficiency MONDO:0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency MONDO:0044200 Orphanet:169157 Orphanet:317416 T-B+ severe combined immunodeficiency MONDO:0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta MONDO:0044200 Orphanet:169160 Orphanet:317416 T-B+ severe combined immunodeficiency MONDO:0015704 familial scaphocephaly syndrome MONDO:0015338 Orphanet:169163 Orphanet:139393 syndromic craniosynostosis MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0018947 Orphanet:169186 Orphanet:595 centronuclear myopathy MONDO:0015712 non-distal trisomy 10q MONDO:0016961 Orphanet:1695 Orphanet:262914 partial duplication of the long arm of chromosome 10 MONDO:0015715 severe hemophilia B MONDO:0010604 Orphanet:169793 Orphanet:98879 hemophilia B MONDO:0015716 moderately severe hemophilia B MONDO:0010604 Orphanet:169796 Orphanet:98879 hemophilia B MONDO:0015717 mild hemophilia B MONDO:0010604 Orphanet:169799 Orphanet:98879 hemophilia B MONDO:0015719 severe hemophilia A MONDO:0010602 Orphanet:169802 Orphanet:98878 hemophilia A MONDO:0015720 moderately severe hemophilia A MONDO:0010602 Orphanet:169805 Orphanet:98878 hemophilia A MONDO:0015721 mild hemophilia A MONDO:0010602 Orphanet:169808 Orphanet:98878 hemophilia A MONDO:0015723 trisomy 12p MONDO:0016933 Orphanet:1699 Orphanet:262658 partial trisomy/tetrasomy of the short arm of chromosome 12 MONDO:0015724 non-distal trisomy 13q MONDO:0022177 Orphanet:1702 Orphanet:262932 chromosome 13q trisomy MONDO:0015726 distal trisomy 14q MONDO:0016964 Orphanet:1705 Orphanet:262941 partial duplication of the long arm of chromosome 14 MONDO:0015728 distal trisomy 15q MONDO:0017806 Orphanet:1707 Orphanet:314585 15q overgrowth syndrome MONDO:0015735 severe congenital nemaline myopathy MONDO:0016193 Orphanet:171430 Orphanet:209059 qualitative or quantitative defects of alpha-actin MONDO:0015735 severe congenital nemaline myopathy MONDO:0016194 Orphanet:171430 Orphanet:209182 qualitative or quantitative defects of nebulin MONDO:0015735 severe congenital nemaline myopathy MONDO:0018958 Orphanet:171430 Orphanet:607 nemaline myopathy MONDO:0015736 intermediate nemaline myopathy MONDO:0016193 Orphanet:171433 Orphanet:209059 qualitative or quantitative defects of alpha-actin MONDO:0015736 intermediate nemaline myopathy MONDO:0016194 Orphanet:171433 Orphanet:209182 qualitative or quantitative defects of nebulin MONDO:0015736 intermediate nemaline myopathy MONDO:0017303 Orphanet:171433 Orphanet:284790 qualitative or quantitative defects of tropomyosin MONDO:0015737 typical nemaline myopathy MONDO:0016193 Orphanet:171436 Orphanet:209059 qualitative or quantitative defects of alpha-actin MONDO:0015737 typical nemaline myopathy MONDO:0016194 Orphanet:171436 Orphanet:209182 qualitative or quantitative defects of nebulin MONDO:0015737 typical nemaline myopathy MONDO:0017303 Orphanet:171436 Orphanet:284790 qualitative or quantitative defects of tropomyosin MONDO:0015737 typical nemaline myopathy MONDO:0018958 Orphanet:171436 Orphanet:607 nemaline myopathy MONDO:0015738 childhood-onset nemaline myopathy MONDO:0016193 Orphanet:171439 Orphanet:209059 qualitative or quantitative defects of alpha-actin MONDO:0015738 childhood-onset nemaline myopathy MONDO:0016194 Orphanet:171439 Orphanet:209182 qualitative or quantitative defects of nebulin MONDO:0015738 childhood-onset nemaline myopathy MONDO:0017303 Orphanet:171439 Orphanet:284790 qualitative or quantitative defects of tropomyosin MONDO:0015738 childhood-onset nemaline myopathy MONDO:0018958 Orphanet:171439 Orphanet:607 nemaline myopathy MONDO:0015739 adult-onset nemaline myopathy MONDO:0016193 Orphanet:171442 Orphanet:209059 qualitative or quantitative defects of alpha-actin MONDO:0015739 adult-onset nemaline myopathy MONDO:0016194 Orphanet:171442 Orphanet:209182 qualitative or quantitative defects of nebulin MONDO:0015739 adult-onset nemaline myopathy MONDO:0018958 Orphanet:171442 Orphanet:607 nemaline myopathy MONDO:0015740 trisomy 18p MONDO:0016951 Orphanet:1715 Orphanet:262812 partial trisomy/tetrasomy of the short arm of chromosome 18 MONDO:0015741 distal trisomy 18q MONDO:0016968 Orphanet:1716 Orphanet:262977 partial trisomy of the long arm of chromosome 18 MONDO:0015744 distal trisomy 19q MONDO:0016969 Orphanet:1717 Orphanet:262986 partial duplication of the long arm of chromosome 19 MONDO:0015746 male infertility due to globozoospermia MONDO:0018394 Orphanet:171709 Orphanet:399808 male infertility with teratozoospermia due to single gene mutation MONDO:0015749 6q16 deletion syndrome MONDO:0016905 Orphanet:171829 Orphanet:262047 partial deletion of the long arm of chromosome 6 MONDO:0015749 6q16 deletion syndrome MONDO:0018354 Orphanet:171829 Orphanet:398073 Prader-Willi-like syndrome MONDO:0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome MONDO:0015338 Orphanet:171839 Orphanet:139393 syndromic craniosynostosis MONDO:0015755 myopathy with hexagonally cross-linked tubular arrays MONDO:0019952 Orphanet:171889 Orphanet:97245 congenital myopathy MONDO:0015758 primary cutaneous T-cell lymphoma MONDO:0015760 Orphanet:171901 Orphanet:171918 T-cell non-Hodgkin lymphoma MONDO:0015758 primary cutaneous T-cell lymphoma MONDO:0018898 Orphanet:171901 Orphanet:542 primary cutaneous lymphoma MONDO:0015759 B-cell non-Hodgkin lymphoma MONDO:0018908 Orphanet:171915 Orphanet:547 non-Hodgkin lymphoma MONDO:0015760 T-cell non-Hodgkin lymphoma MONDO:0018908 Orphanet:171918 Orphanet:547 non-Hodgkin lymphoma MONDO:0015761 trisomy 10p MONDO:0016947 Orphanet:171929 Orphanet:262776 partial duplication of the short arm of chromosome 10 MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:0017290 Orphanet:172 Orphanet:284385 familial intrahepatic cholestasis MONDO:0015762 progressive familial intrahepatic cholestasis MONDO:0017755 Orphanet:172 Orphanet:309816 inborn disorder of bilirubin metabolism MONDO:0015767 trisomy 4p MONDO:0016941 Orphanet:1738 Orphanet:262716 partial duplication of the short arm of chromosome 4 MONDO:0015768 trisomy 5p MONDO:0016942 Orphanet:1742 Orphanet:262725 partial trisomy/tetrasomy of the short arm of chromosome 5 MONDO:0015769 distal trisomy 6p MONDO:0016943 Orphanet:1745 Orphanet:262740 partial duplication of the short arm of chromosome 6 MONDO:0015770 congenital hypogonadotropic hypogonadism MONDO:0019824 Orphanet:174590 Orphanet:95488 non-acquired pituitary hormone deficiency MONDO:0015772 trisomy 8q MONDO:0016959 Orphanet:1752 Orphanet:262896 partial duplication of the long arm of chromosome 8 MONDO:0015775 non-rhizomelic chondrodysplasia punctata MONDO:0019701 Orphanet:176 Orphanet:93442 chondrodysplasia punctata MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0017986 Orphanet:177 Orphanet:3276 disorder of plasmalogens biosynthesis MONDO:0015776 rhizomelic chondrodysplasia punctata MONDO:0019701 Orphanet:177 Orphanet:93442 chondrodysplasia punctata MONDO:0015779 45,X/46,XY mixed gonadal dysgenesis MONDO:0017975 Orphanet:1772 Orphanet:325546 sex chromosome disorder of sex development MONDO:0015780 dyskeratosis congenita MONDO:0015356 Orphanet:1775 Orphanet:140162 hereditary neoplastic syndrome MONDO:0015780 dyskeratosis congenita MONDO:0019287 Orphanet:1775 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO:0015159 Orphanet:1778 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 MONDO:0020301 Orphanet:177901 Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion MONDO:0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 MONDO:0020301 Orphanet:177904 Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion MONDO:0015785 Prader-Willi syndrome due to translocation MONDO:0008300 Orphanet:177907 Orphanet:739 Prader-Willi syndrome MONDO:0015786 Prader-Willi syndrome due to imprinting mutation MONDO:0008300 Orphanet:177910 Orphanet:739 Prader-Willi syndrome MONDO:0015787 symptomatic form of hemophilia A in female carriers MONDO:0010602 Orphanet:177926 Orphanet:98878 hemophilia A MONDO:0015788 symptomatic form of hemophilia B in female carriers MONDO:0010604 Orphanet:177929 Orphanet:98879 hemophilia B MONDO:0015790 central diabetes insipidus MONDO:0015127 Orphanet:178029 Orphanet:101957 pituitary deficiency MONDO:0015791 peripheral precocious puberty MONDO:0000088 Orphanet:178040 Orphanet:95708 precocious puberty MONDO:0015792 transient congenital hypothyroidism MONDO:0018612 Orphanet:178045 Orphanet:442 congenital hypothyroidism MONDO:0015793 moderate multiminicore disease with hand involvement MONDO:0018948 Orphanet:178145 Orphanet:598 multiminicore myopathy MONDO:0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita MONDO:0018948 Orphanet:178148 Orphanet:598 multiminicore myopathy MONDO:0015797 UV-sensitive syndrome MONDO:0015951 Orphanet:178338 Orphanet:183490 hereditary photodermatosis MONDO:0015800 osteosclerosis-developmental delay-craniosynostosis syndrome MONDO:0015338 Orphanet:178377 Orphanet:139393 syndromic craniosynostosis MONDO:0015803 wound botulism MONDO:0016468 Orphanet:178475 Orphanet:230800 toxin-mediated infectious botulism MONDO:0015804 infant botulism MONDO:0015805 Orphanet:178478 Orphanet:178481 intestinal botulism MONDO:0015805 intestinal botulism MONDO:0016468 Orphanet:178481 Orphanet:230800 toxin-mediated infectious botulism MONDO:0015806 adult intestinal botulism MONDO:0015805 Orphanet:178487 Orphanet:178481 intestinal botulism MONDO:0015810 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma MONDO:0015816 Orphanet:178522 Orphanet:178548 indolent primary cutaneous T-cell lymphoma MONDO:0015813 primary cutaneous marginal zone B-cell lymphoma MONDO:0015819 Orphanet:178536 Orphanet:178557 indolent primary cutaneous B-cell lymphoma MONDO:0015814 primary cutaneous follicle center lymphoma MONDO:0015819 Orphanet:178540 Orphanet:178557 indolent primary cutaneous B-cell lymphoma MONDO:0015816 indolent primary cutaneous T-cell lymphoma MONDO:0015758 Orphanet:178548 Orphanet:171901 primary cutaneous T-cell lymphoma MONDO:0015819 indolent primary cutaneous B-cell lymphoma MONDO:0015820 Orphanet:178557 Orphanet:178563 primary cutaneous B-cell lymphoma MONDO:0015819 indolent primary cutaneous B-cell lymphoma MONDO:0017594 Orphanet:178557 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma MONDO:0015820 primary cutaneous B-cell lymphoma MONDO:0018898 Orphanet:178563 Orphanet:542 primary cutaneous lymphoma MONDO:0015821 mycosis fungoides and variants MONDO:0015816 Orphanet:178566 Orphanet:178548 indolent primary cutaneous T-cell lymphoma MONDO:0015830 partial bilateral aplasia of the mullerian ducts MONDO:0019128 Orphanet:180068 Orphanet:73217 mullerian aplasia MONDO:0015831 unilateral aplasia of the mullerian ducts MONDO:0019128 Orphanet:180071 Orphanet:73217 mullerian aplasia MONDO:0015832 true unicornuate uterus MONDO:0015831 Orphanet:180074 Orphanet:180071 unilateral aplasia of the mullerian ducts MONDO:0015833 pseudounicornuate uterus MONDO:0015831 Orphanet:180079 Orphanet:180071 unilateral aplasia of the mullerian ducts MONDO:0015834 didelphys uterus MONDO:0015842 Orphanet:180086 Orphanet:180134 bicornuate uterus MONDO:0015835 Bicervical bicornuate uterus and blind hemivagina MONDO:0015834 Orphanet:180106 Orphanet:180086 didelphys uterus MONDO:0015836 Bicervical bicornuate uterus with patent cervix and vagina MONDO:0015834 Orphanet:180111 Orphanet:180086 didelphys uterus MONDO:0015840 complete septate uterus MONDO:0015839 Orphanet:180126 Orphanet:180122 septate uterus MONDO:0015841 partial septate uterus MONDO:0015839 Orphanet:180129 Orphanet:180122 septate uterus MONDO:0015883 hidrotic ectodermal dysplasia, Halal type MONDO:0019287 Orphanet:1809 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0015884 autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0016535 Orphanet:1810 Orphanet:238468 hypohidrotic ectodermal dysplasia MONDO:0015892 growth hormone insensitivity syndrome MONDO:0015514 Orphanet:181393 Orphanet:156643 hereditary endocrine growth disease MONDO:0015912 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss MONDO:0018795 Orphanet:182050 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0015929 thoracic malformation MONDO:0020001 Orphanet:182108 Orphanet:97957 respiratory or thoracic malformation MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome MONDO:0015159 Orphanet:1825 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0015942 frontometaphyseal dysplasia MONDO:0018233 Orphanet:1826 Orphanet:364541 otopalatodigital syndrome spectrum disorder MONDO:0015947 inherited ichthyosis MONDO:0019269 Orphanet:183435 Orphanet:79354 ichthyosis MONDO:0015974 severe combined immunodeficiency MONDO:0015131 Orphanet:183660 Orphanet:101972 combined immunodeficiency MONDO:0015986 bilateral renal agenesis MONDO:0018470 Orphanet:1848 Orphanet:411709 renal agenesis MONDO:0015987 scimitar syndrome MONDO:0020292 Orphanet:185 Orphanet:98724 congenital anomaly of the great arteries MONDO:0015990 focal, segmental or multifocal dystonia MONDO:0015494 Orphanet:1866 Orphanet:156159 isolated dystonia MONDO:0015991 citrullinemia MONDO:0004739 Orphanet:187 Orphanet:79167 urea cycle disorder MONDO:0016004 aminopterin/methotrexate embryofetopathy MONDO:0016677 Orphanet:1908 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016005 indomethacin embryofetopathy MONDO:0016677 Orphanet:1909 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016006 Cockayne syndrome MONDO:0015333 Orphanet:191 Orphanet:139033 progeroid syndrome MONDO:0016007 cocaine embryofetopathy MONDO:0016677 Orphanet:1911 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016010 vitamin K-antagonist embryofetopathy MONDO:0016677 Orphanet:1914 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016011 fetal alcohol syndrome MONDO:0016677 Orphanet:1915 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016012 diethylstilbestrol syndrome MONDO:0016677 Orphanet:1916 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016013 fetal methylmercury syndrome MONDO:0016677 Orphanet:1917 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016014 fetal minoxidil syndrome MONDO:0016677 Orphanet:1918 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016016 toluene embryopathy MONDO:0016677 Orphanet:1920 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016017 methimazole embryofetopathy MONDO:0016677 Orphanet:1923 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016020 frontal encephalocele MONDO:0016057 Orphanet:1931 Orphanet:199647 isolated encephalocele MONDO:0016026 infant epilepsy with migrant focal crisis MONDO:0020071 Orphanet:1943 Orphanet:98258 infantile epilepsy syndrome MONDO:0016027 benign neonatal seizures MONDO:0020070 Orphanet:1949 Orphanet:98257 neonatal epilepsy syndrome MONDO:0016029 esthesioneuroblastoma MONDO:0016713 Orphanet:1957 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0016030 Evans syndrome MONDO:0019098 Orphanet:1959 Orphanet:71203 autoimmune thrombocytopenia MONDO:0016030 Evans syndrome MONDO:0020108 Orphanet:1959 Orphanet:98375 autoimmune hemolytic anemia MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:0015161 Orphanet:1969 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016033 Cornelia de Lange syndrome MONDO:0015159 Orphanet:199 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016035 Nelson syndrome MONDO:0003429 Orphanet:199244 Orphanet:314753 functioning pituitary gland adenoma MONDO:0016038 calcified aponeurotic fibroma MONDO:0016037 Orphanet:199260 Orphanet:199257 superficial Fibromatosis MONDO:0016039 infantile digital fibromatosis MONDO:0016037 Orphanet:199267 Orphanet:199257 superficial Fibromatosis MONDO:0016042 late-onset isolated ACTH deficiency MONDO:0019832 Orphanet:199299 Orphanet:95502 acquired pituitary hormone deficiency MONDO:0016045 tetragametic chimerism MONDO:0017975 Orphanet:199310 Orphanet:325546 sex chromosome disorder of sex development MONDO:0016049 congenital myopathy, Paradas type MONDO:0016145 Orphanet:199329 Orphanet:207073 qualitative or quantitative defects of dysferlin MONDO:0016049 congenital myopathy, Paradas type MONDO:0019950 Orphanet:199329 Orphanet:97242 congenital muscular dystrophy MONDO:0016051 cleft lip-retinopathy syndrome MONDO:0015161 Orphanet:1995 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016057 isolated encephalocele MONDO:0017078 Orphanet:199647 Orphanet:268817 cephalocele MONDO:0016058 paroxysmal dystonia MONDO:0020065 Orphanet:200037 Orphanet:98203 combined dystonia MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome MONDO:0015159 Orphanet:2015 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016066 sternal cleft MONDO:0015929 Orphanet:2017 Orphanet:182108 thoracic malformation MONDO:0016071 juvenile hyaline fibromatosis MONDO:0009229 Orphanet:2028 Orphanet:498474 hyaline fibromatosis syndrome MONDO:0016077 congenital aortopulmonary window MONDO:0016581 Orphanet:2037 Orphanet:2445 conotruncal heart malformations MONDO:0016078 congenital systemic arteriovenous fistula MONDO:0020296 Orphanet:2039 Orphanet:98731 congenital arteriovenous fistula MONDO:0016081 coronary arterial fistulas MONDO:0015203 Orphanet:2041 Orphanet:1081 coronary artery congenital malformation MONDO:0016085 Cole-Carpenter syndrome MONDO:0015161 Orphanet:2050 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016086 osteochondritis of tarsal/metatarsal bone MONDO:0018381 Orphanet:563991 Orphanet:399319 osteochondrosis MONDO:0016087 progressive non-infectious anterior vertebral fusion MONDO:0015161 Orphanet:2062 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0019236 Orphanet:206428 Orphanet:79191 inborn disorder of purine metabolism MONDO:0016089 infantile Krabbe disease MONDO:0009499 Orphanet:206436 Orphanet:487 Krabbe disease MONDO:0016090 late-infantile/juvenile Krabbe disease MONDO:0009499 Orphanet:206443 Orphanet:487 Krabbe disease MONDO:0016091 adult Krabbe disease MONDO:0009499 Orphanet:206448 Orphanet:487 Krabbe disease MONDO:0016091 adult Krabbe disease MONDO:0020143 Orphanet:206448 Orphanet:98544 cerebral lipidosis with dementia MONDO:0016098 immune-mediated necrotizing myopathy MONDO:0020122 Orphanet:206569 Orphanet:98482 acquired idiopathic inflammatory myopathy MONDO:0016099 overlap myositis MONDO:0020122 Orphanet:206572 Orphanet:98482 acquired idiopathic inflammatory myopathy MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase MONDO:0016146 Orphanet:206599 Orphanet:207078 caveolinopathy MONDO:0016103 isolated asymptomatic elevation of creatine phosphokinase MONDO:0016147 Orphanet:206599 Orphanet:207085 qualitative or quantitative defects of dystrophin MONDO:0016105 acquired skeletal muscle disease MONDO:0020120 Orphanet:206638 Orphanet:98472 skeletal muscle disorder MONDO:0016106 progressive muscular dystrophy MONDO:0020121 Orphanet:206644 Orphanet:98473 muscular dystrophy MONDO:0016107 myotonic dystrophy MONDO:0016106 Orphanet:206647 Orphanet:206644 progressive muscular dystrophy MONDO:0016107 myotonic dystrophy MONDO:0016120 Orphanet:206647 Orphanet:206970 myotonic syndrome MONDO:0016108 autosomal dominant distal myopathy MONDO:0018949 Orphanet:206650 Orphanet:599 distal myopathy MONDO:0016129 eosinophilic gastroenteritis MONDO:0018438 Orphanet:2070 Orphanet:402029 eosinophilic gastrointestinal disease MONDO:0016140 sarcoglycanopathy MONDO:0016139 Orphanet:207052 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016141 qualitative or quantitative defects of alpha-sarcoglycan MONDO:0016140 Orphanet:207060 Orphanet:207052 sarcoglycanopathy MONDO:0016142 qualitative or quantitative defects of beta-sarcoglycan MONDO:0016140 Orphanet:207063 Orphanet:207052 sarcoglycanopathy MONDO:0016143 qualitative or quantitative defects of gamma-sarcoglycan MONDO:0016140 Orphanet:207067 Orphanet:207052 sarcoglycanopathy MONDO:0016144 qualitative or quantitative defects of delta-sarcoglycan MONDO:0016140 Orphanet:207070 Orphanet:207052 sarcoglycanopathy MONDO:0016145 qualitative or quantitative defects of dysferlin MONDO:0016139 Orphanet:207073 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016146 caveolinopathy MONDO:0016139 Orphanet:207078 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016147 qualitative or quantitative defects of dystrophin MONDO:0016139 Orphanet:207085 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016151 qualitative or quantitative defects of perlecan MONDO:0016139 Orphanet:207101 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016153 qualitative or quantitative defects of TRIM32 MONDO:0016139 Orphanet:207107 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO:0018282 Orphanet:207113 Orphanet:371024 qualitative or quantitative defects of alpha-dystroglycan MONDO:0016156 qualitative or quantitative defects of FKRP MONDO:0016155 Orphanet:207119 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO:0016158 narcolepsy-cataplexy syndrome MONDO:0021107 Orphanet:2073 Orphanet:619284 narcolepsy MONDO:0016159 Gemignani syndrome MONDO:0020047 Orphanet:2074 Orphanet:98099 autosomal recessive syndromic cerebellar ataxia MONDO:0016160 X-linked intellectual disability-epilepsy syndrome MONDO:0015653 Orphanet:2076 Orphanet:166472 monogenic epilepsy MONDO:0016162 bilateral frontal polymicrogyria MONDO:0017091 Orphanet:208444 Orphanet:268940 bilateral polymicrogyria MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0020380 Orphanet:208508 Orphanet:99 autosomal dominant cerebellar ataxia MONDO:0016167 optic pathway glioma MONDO:0016749 Orphanet:2086 Orphanet:252057 tumor of cranial and spinal nerves MONDO:0016168 cryopyrin-associated periodic syndrome MONDO:0017953 Orphanet:208650 Orphanet:324924 hereditary periodic fever syndrome MONDO:0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 MONDO:0016155 Orphanet:209030 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO:0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 MONDO:0016155 Orphanet:209033 Orphanet:207113 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO:0016186 qualitative or quantitative defects of myofibrillar proteins MONDO:0016139 Orphanet:209038 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016187 qualitative or quantitative defects of desmin MONDO:0016186 Orphanet:209041 Orphanet:209038 qualitative or quantitative defects of myofibrillar proteins MONDO:0016188 qualitative or quantitative defects of alphaB-cristallin MONDO:0016186 Orphanet:209044 Orphanet:209038 qualitative or quantitative defects of myofibrillar proteins MONDO:0016189 qualitative or quantitative defects of filamin C MONDO:0016186 Orphanet:209047 Orphanet:209038 qualitative or quantitative defects of myofibrillar proteins MONDO:0016190 qualitative or quantitative defects of protein ZASP MONDO:0016186 Orphanet:209050 Orphanet:209038 qualitative or quantitative defects of myofibrillar proteins MONDO:0016191 qualitative or quantitative defects of titin MONDO:0016139 Orphanet:209053 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016192 qualitative or quantitative defects of telethonin MONDO:0016139 Orphanet:209056 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016193 qualitative or quantitative defects of alpha-actin MONDO:0016139 Orphanet:209059 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016194 qualitative or quantitative defects of nebulin MONDO:0016139 Orphanet:209182 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) MONDO:0016139 Orphanet:209185 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016197 qualitative or quantitative defects of selenoprotein N1 MONDO:0016139 Orphanet:209193 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016198 qualitative or quantitative defects of plectin MONDO:0016139 Orphanet:209196 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016199 qualitative or quantitative defects of protein SERCA1 MONDO:0016139 Orphanet:209199 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency MONDO:0019218 Orphanet:209902 Orphanet:79168 inborn disorder of bile acid synthesis MONDO:0016207 phacoanaphylactic uveitis MONDO:0017634 Orphanet:209959 Orphanet:306648 non-infectious anterior uveitis MONDO:0016209 benign familial nocturnal alternating hemiplegia of childhood MONDO:0016210 Orphanet:209973 Orphanet:209978 alternating hemiplegia MONDO:0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome MONDO:0019289 Orphanet:210133 Orphanet:79375 hyperpigmentation of the skin MONDO:0016216 adult hepatocellular carcinoma MONDO:0007256 Orphanet:210159 Orphanet:88673 hepatocellular carcinoma MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome MONDO:0015161 Orphanet:2104 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016226 specific language disorder MONDO:0016225 Orphanet:211053 Orphanet:211047 specific learning disability MONDO:0016227 hereditary episodic ataxia MONDO:0100309 Orphanet:211062 Orphanet:183518 hereditary ataxia MONDO:0016239 cystinosis MONDO:0019246 Orphanet:213 Orphanet:79207 inborn disorder of lysosomal amino acid transport MONDO:0016241 alternating hemiplegia of childhood MONDO:0016210 Orphanet:2131 Orphanet:209978 alternating hemiplegia MONDO:0016242 hemoglobin C disease MONDO:0019050 Orphanet:2132 Orphanet:68364 inherited hemoglobinopathy MONDO:0016243 hemoglobin E disease MONDO:0019050 Orphanet:2133 Orphanet:68364 inherited hemoglobinopathy MONDO:0016244 atypical hemolytic-uremic syndrome MONDO:0957097 Orphanet:2134 Orphanet:576742 hereditary hemolytic uremic syndrome MONDO:0016256 Hennekam syndrome MONDO:0015159 Orphanet:2136 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016260 uterine corpus rhabdomyosarcoma MONDO:0005210 Orphanet:213615 Orphanet:213620 uterine corpus sarcoma MONDO:0016262 leiomyosarcoma of the corpus uteri MONDO:0005210 Orphanet:213625 Orphanet:213620 uterine corpus sarcoma MONDO:0016282 rhabdomyosarcoma of the cervix uteri MONDO:0016280 Orphanet:213802 Orphanet:213797 sarcoma of cervix uteri MONDO:0016283 leiomyosarcoma of the cervix uteri MONDO:0016280 Orphanet:213807 Orphanet:213797 sarcoma of cervix uteri MONDO:0016284 primitive neuroectodermal tumor of the cervix uteri MONDO:0016280 Orphanet:213812 Orphanet:213797 sarcoma of cervix uteri MONDO:0016290 Hernández-Aguirre Negrete syndrome MONDO:0015159 Orphanet:2139 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016291 craniosynostosis, Herrmann-Opitz type MONDO:0015338 Orphanet:2145 Orphanet:139393 syndromic craniosynostosis MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome MONDO:0015161 Orphanet:2150 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016295 neuronal ceroid lipofuscinosis MONDO:0024237 Orphanet:216 Orphanet:183500 inherited neurodegenerative disorder MONDO:0016296 holoprosencephaly MONDO:0015159 Orphanet:2162 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016301 congenitally corrected transposition of the great arteries MONDO:0000153 Orphanet:216694 Orphanet:216675 transposition of the great arteries MONDO:0016302 isolated congenitally uncorrected transposition of the great arteries MONDO:0019443 Orphanet:216718 Orphanet:860 dextro-looped transposition of the great arteries MONDO:0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation MONDO:0019443 Orphanet:216729 Orphanet:860 dextro-looped transposition of the great arteries MONDO:0016304 classic pantothenate kinase-associated neurodegeneration MONDO:0009319 Orphanet:216866 Orphanet:157850 pantothenate kinase-associated neurodegeneration MONDO:0016305 atypical pantothenate kinase-associated neurodegeneration MONDO:0009319 Orphanet:216873 Orphanet:157850 pantothenate kinase-associated neurodegeneration MONDO:0016306 Niemann-Pick disease type C, severe perinatal form MONDO:0018982 Orphanet:216972 Orphanet:646 Niemann-Pick disease type C MONDO:0016307 Niemann-Pick disease type C, severe early infantile neurologic onset MONDO:0018982 Orphanet:216975 Orphanet:646 Niemann-Pick disease type C MONDO:0016308 Niemann-Pick disease type C, late infantile neurologic onset MONDO:0018982 Orphanet:216978 Orphanet:646 Niemann-Pick disease type C MONDO:0016309 Niemann-Pick disease type C, juvenile neurologic onset MONDO:0018982 Orphanet:216981 Orphanet:646 Niemann-Pick disease type C MONDO:0016310 Niemann-Pick disease type C, adult neurologic onset MONDO:0018982 Orphanet:216986 Orphanet:646 Niemann-Pick disease type C MONDO:0016311 Bockenheimer syndrome MONDO:0019293 Orphanet:217008 Orphanet:79379 skin vascular disease MONDO:0016315 mucopolysaccharidosis type 2, severe form MONDO:0010674 Orphanet:217085 Orphanet:580 mucopolysaccharidosis type 2 MONDO:0016316 mucopolysaccharidosis type 2, attenuated form MONDO:0010674 Orphanet:217093 Orphanet:580 mucopolysaccharidosis type 2 MONDO:0016319 congenital insensitivity to pain with hyperhidrosis MONDO:0015364 Orphanet:217399 Orphanet:140471 hereditary sensory and autonomic neuropathy MONDO:0016321 pulmonary interstitial glycogenosis MONDO:0017019 Orphanet:217557 Orphanet:264694 interstitial lung disease specific to infancy MONDO:0016322 neuroendocrine cell hyperplasia of infancy MONDO:0017019 Orphanet:217560 Orphanet:264694 interstitial lung disease specific to infancy MONDO:0016330 non-familial hypertrophic cardiomyopathy MONDO:0005045 Orphanet:217598 Orphanet:217569 hypertrophic cardiomyopathy MONDO:0016331 infantile systemic hyalinosis MONDO:0009229 Orphanet:2176 Orphanet:498474 hyaline fibromatosis syndrome MONDO:0016333 familial dilated cardiomyopathy MONDO:0005021 Orphanet:217607 Orphanet:217604 dilated cardiomyopathy MONDO:0016338 non-familial dilated cardiomyopathy MONDO:0005021 Orphanet:217629 Orphanet:217604 dilated cardiomyopathy MONDO:0016340 familial restrictive cardiomyopathy MONDO:0005201 Orphanet:217635 Orphanet:217632 restrictive cardiomyopathy MONDO:0016342 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0016587 Orphanet:217656 Orphanet:247 arrhythmogenic right ventricular cardiomyopathy MONDO:0016344 hydranencephaly MONDO:0017103 Orphanet:2177 Orphanet:269190 encephaloclastic disorder MONDO:0016345 non-familial restrictive cardiomyopathy MONDO:0005201 Orphanet:217720 Orphanet:217632 restrictive cardiomyopathy MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO:0015951 Orphanet:220295 Orphanet:183490 hereditary photodermatosis MONDO:0016356 diffuse cutaneous systemic sclerosis MONDO:0005100 Orphanet:220393 Orphanet:90291 systemic sclerosis MONDO:0016358 limited cutaneous systemic sclerosis MONDO:0005100 Orphanet:220402 Orphanet:90291 systemic sclerosis MONDO:0016359 limited systemic sclerosis MONDO:0005100 Orphanet:220407 Orphanet:90291 systemic sclerosis MONDO:0016360 marcothrombocytopenia with mitral valve insufficiency MONDO:0018795 Orphanet:220448 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0016364 Joubert syndrome with ocular defect MONDO:0015369 Orphanet:220493 Orphanet:140874 Joubert syndrome and related disorders MONDO:0016365 familial primary hyperparathyroidism MONDO:0016166 Orphanet:2207 Orphanet:208596 hereditary hyperparathyroidism MONDO:0016368 Rothmund-Thomson syndrome type 1 MONDO:0010002 Orphanet:221008 Orphanet:2909 Rothmund-Thomson syndrome MONDO:0016369 Rothmund-Thomson syndrome type 2 MONDO:0010002 Orphanet:221016 Orphanet:2909 Rothmund-Thomson syndrome MONDO:0016371 combined hyperactive dysfunction syndrome of the cranial nerves MONDO:0016374 Orphanet:221078 Orphanet:221109 cranial neuralgia MONDO:0016372 glossopharyngeal neuralgia MONDO:0016374 Orphanet:221098 Orphanet:221109 cranial neuralgia MONDO:0016374 cranial neuralgia MONDO:0015923 Orphanet:221109 Orphanet:182086 acquired peripheral neuropathy MONDO:0016380 acquired hypertrichosis lanuginosa MONDO:0019280 Orphanet:2221 Orphanet:79365 hypertrichosis MONDO:0016381 hypertrichosis lanuginosa congenita MONDO:0019280 Orphanet:2222 Orphanet:79365 hypertrichosis MONDO:0016381 hypertrichosis lanuginosa congenita MONDO:0019287 Orphanet:2222 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0016382 hereditary poikiloderma MONDO:0019268 Orphanet:222628 Orphanet:79353 epidermal disease MONDO:0016383 nephrogenic diabetes insipidus MONDO:0015962 Orphanet:223 Orphanet:183592 inherited renal tubular disease MONDO:0016387 mitochondrial oxidative phosphorylation disorder MONDO:0004069 Orphanet:223713 Orphanet:68380 inborn mitochondrial metabolism disorder MONDO:0016390 familial hypoparathyroidism MONDO:0016165 Orphanet:2238 Orphanet:208593 hereditary hypoparathyroidism MONDO:0016391 neonatal diabetes mellitus MONDO:0015967 Orphanet:224 Orphanet:183625 monogenic diabetes MONDO:0016394 sporadic infantile bilateral striatal necrosis MONDO:0015518 Orphanet:225147 Orphanet:1576 infantile bilateral striatal necrosis MONDO:0016396 pontocerebellar hypoplasia type 1 MONDO:0020135 Orphanet:2254 Orphanet:98523 pontocerebellar hypoplasia MONDO:0016408 permanent congenital hypothyroidism MONDO:0015514 Orphanet:226292 Orphanet:156643 hereditary endocrine growth disease MONDO:0016408 permanent congenital hypothyroidism MONDO:0018612 Orphanet:226292 Orphanet:442 congenital hypothyroidism MONDO:0016410 central congenital hypothyroidism MONDO:0016408 Orphanet:226298 Orphanet:226292 permanent congenital hypothyroidism MONDO:0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function MONDO:0016410 Orphanet:226307 Orphanet:226298 central congenital hypothyroidism MONDO:0016413 congenital hypothyroidism due to maternal intake of antithyroid drugs MONDO:0016555 Orphanet:226313 Orphanet:238696 transient congenital hypothyroidism due to maternal factor MONDO:0016418 multiple system atrophy, cerebellar type MONDO:0007803 Orphanet:227510 Orphanet:102 multiple system atrophy MONDO:0016422 autoimmune polyendocrinopathy type 3 MONDO:0017278 Orphanet:227982 Orphanet:282196 autoimmune polyendocrinopathy MONDO:0016423 autoimmune polyendocrinopathy type 4 MONDO:0017278 Orphanet:227990 Orphanet:282196 autoimmune polyendocrinopathy MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M MONDO:0018993 Orphanet:228179 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0015159 Orphanet:2282 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016450 autoimmune hemolytic anemia, cold type MONDO:0020108 Orphanet:228312 Orphanet:98375 autoimmune hemolytic anemia MONDO:0016453 foodborne botulism MONDO:0005498 Orphanet:228371 Orphanet:1267 botulism MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0016904 Orphanet:228384 Orphanet:262038 partial deletion of the long arm of chromosome 5 MONDO:0016458 8q12 microduplication syndrome MONDO:0016959 Orphanet:228399 Orphanet:262896 partial duplication of the long arm of chromosome 8 MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0016901 Orphanet:228402 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0016461 5q35 microduplication syndrome MONDO:0016956 Orphanet:228415 Orphanet:262869 partial trisomy of the long arm of chromosome 5 MONDO:0016462 isolated agammaglobulinemia MONDO:0015977 Orphanet:229717 Orphanet:183669 agammaglobulinemia MONDO:0016463 syndromic agammaglobulinemia MONDO:0015977 Orphanet:229720 Orphanet:183669 agammaglobulinemia MONDO:0016466 asbestosis MONDO:0015926 Orphanet:2302 Orphanet:182098 pneumoconiosis MONDO:0016467 isotretinoin syndrome MONDO:0016677 Orphanet:2305 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016468 toxin-mediated infectious botulism MONDO:0005498 Orphanet:230800 Orphanet:1267 botulism MONDO:0016472 dracunculiasis MONDO:0016075 Orphanet:231 Orphanet:2034 filariasis MONDO:0016473 familial rhabdoid tumor MONDO:0015356 Orphanet:231108 Orphanet:140162 hereditary neoplastic syndrome MONDO:0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 MONDO:0007534 Orphanet:231117 Orphanet:116 Beckwith-Wiedemann syndrome MONDO:0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation MONDO:0007534 Orphanet:231120 Orphanet:116 Beckwith-Wiedemann syndrome MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion MONDO:0007534 Orphanet:231127 Orphanet:116 Beckwith-Wiedemann syndrome MONDO:0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion MONDO:0016893 Orphanet:231127 Orphanet:261947 partial deletion of the short arm of chromosome 11 MONDO:0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion MONDO:0007534 Orphanet:231130 Orphanet:116 Beckwith-Wiedemann syndrome MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication MONDO:0008394 Orphanet:231137 Orphanet:813 Silver-Russell syndrome MONDO:0016479 silver-Russell syndrome due to 7p11.2p13 microduplication MONDO:0016944 Orphanet:231137 Orphanet:262749 partial duplication of the short arm of chromosome 7 MONDO:0016480 silver-Russell syndrome due to an imprinting defect of 11p15 MONDO:0008394 Orphanet:231140 Orphanet:813 Silver-Russell syndrome MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication MONDO:0008394 Orphanet:231144 Orphanet:813 Silver-Russell syndrome MONDO:0016481 silver-Russell syndrome due to 11p15 microduplication MONDO:0016948 Orphanet:231144 Orphanet:262785 partial duplication of the short arm of chromosome 11 MONDO:0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 MONDO:0008394 Orphanet:231147 Orphanet:813 Silver-Russell syndrome MONDO:0016484 Usher syndrome type 2 MONDO:0019501 Orphanet:231178 Orphanet:886 Usher syndrome MONDO:0016485 Usher syndrome type 3 MONDO:0019501 Orphanet:231183 Orphanet:886 Usher syndrome MONDO:0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis MONDO:0019312 Orphanet:231500 Orphanet:79430 Hermansky-Pudlak syndrome MONDO:0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis MONDO:0019312 Orphanet:231512 Orphanet:79430 Hermansky-Pudlak syndrome MONDO:0016512 Kabuki syndrome MONDO:0015159 Orphanet:2322 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016527 glycogen storage disease due to lactate dehydrogenase deficiency MONDO:0002412 Orphanet:2364 Orphanet:79201 disorder of glycogen metabolism MONDO:0016533 apolipoprotein A-II amyloidosis MONDO:0007099 Orphanet:238269 Orphanet:85450 familial visceral amyloidosis MONDO:0016534 infundibulo-neurohypophysitis MONDO:0019835 Orphanet:238305 Orphanet:95506 primary hypophysitis MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0019287 Orphanet:238468 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0016539 atypical hypotonia-cystinuria syndrome MONDO:0011669 Orphanet:238523 Orphanet:238517 hypotonia-cystinuria syndrome MONDO:0016540 congenital secondary polycythemia MONDO:0020115 Orphanet:238536 Orphanet:98428 secondary polycythemia MONDO:0016541 acquired secondary polycythemia MONDO:0020115 Orphanet:238547 Orphanet:98428 secondary polycythemia MONDO:0016544 IgG4-related mesenteritis MONDO:0017287 Orphanet:238593 Orphanet:596448 IgG4-related disease MONDO:0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation MONDO:0007534 Orphanet:238613 Orphanet:116 Beckwith-Wiedemann syndrome MONDO:0016549 primary megaureter, adult-onset form MONDO:0018960 Orphanet:238642 Orphanet:617 congenital primary megaureter MONDO:0016550 congenital primary megaureter, obstructed form MONDO:0018960 Orphanet:238646 Orphanet:617 congenital primary megaureter MONDO:0016551 congenital primary megaureter, refluxing form MONDO:0018960 Orphanet:238650 Orphanet:617 congenital primary megaureter MONDO:0016552 congenital primary megaureter, nonrefluxing and unobstructed form MONDO:0018960 Orphanet:238654 Orphanet:617 congenital primary megaureter MONDO:0016553 isolated congenital hypogonadotropic hypogonadism MONDO:0015770 Orphanet:238666 Orphanet:174590 congenital hypogonadotropic hypogonadism MONDO:0016555 transient congenital hypothyroidism due to maternal factor MONDO:0015792 Orphanet:238696 Orphanet:178045 transient congenital hypothyroidism MONDO:0016556 transient congenital hypothyroidism due to neonatal factor MONDO:0015792 Orphanet:238699 Orphanet:178045 transient congenital hypothyroidism MONDO:0016557 leukonychia totalis MONDO:0019284 Orphanet:2387 Orphanet:79369 inherited isolated nail anomaly MONDO:0016561 1q44 microdeletion syndrome MONDO:0022756 Orphanet:238769 Orphanet:262001 chromosome 1q deletion MONDO:0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome MONDO:0020488 Orphanet:240094 Orphanet:99750 atypical progressive supranuclear palsy syndrome MONDO:0016563 progressive supranuclear palsy-corticobasal syndrome MONDO:0020488 Orphanet:240103 Orphanet:99750 atypical progressive supranuclear palsy syndrome MONDO:0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome MONDO:0020488 Orphanet:240112 Orphanet:99750 atypical progressive supranuclear palsy syndrome MONDO:0016566 loiasis MONDO:0016075 Orphanet:2404 Orphanet:2034 filariasis MONDO:0016570 primary pulmonary lymphoma MONDO:0017207 Orphanet:2420 Orphanet:279911 primary organ-specific lymphoma MONDO:0016571 macrocephaly-short stature-paraplegia syndrome MONDO:0015159 Orphanet:2427 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome MONDO:0019288 Orphanet:2435 Orphanet:79374 skin pigmentation disorder MONDO:0016584 mandibuloacral dysplasia MONDO:0015161 Orphanet:2457 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016584 mandibuloacral dysplasia MONDO:0019707 Orphanet:2457 Orphanet:93449 primary osteolysis MONDO:0016584 mandibuloacral dysplasia MONDO:0020087 Orphanet:2457 Orphanet:98305 hereditary lipodystrophy MONDO:0016586 systemic mastocytosis MONDO:0007950 Orphanet:2467 Orphanet:98292 mastocytosis MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO:0017748 Orphanet:247262 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0016598 autosomal recessive secondary polycythemia not associated with VHL gene MONDO:0016540 Orphanet:247378 Orphanet:238536 congenital secondary polycythemia MONDO:0016600 acute neonatal citrullinemia type I MONDO:0008988 Orphanet:247546 Orphanet:247525 citrullinemia type I MONDO:0016601 adult-onset citrullinemia type I MONDO:0008988 Orphanet:247573 Orphanet:247525 citrullinemia type I MONDO:0016602 citrin deficiency MONDO:0015991 Orphanet:247582 Orphanet:187 citrullinemia MONDO:0016603 citrullinemia type II MONDO:0016602 Orphanet:247585 Orphanet:247582 citrin deficiency MONDO:0016605 perinatal lethal hypophosphatasia MONDO:0018570 Orphanet:247623 Orphanet:436 hypophosphatasia MONDO:0016607 odontohypophosphatasia MONDO:0018570 Orphanet:247685 Orphanet:436 hypophosphatasia MONDO:0016609 inflammatory myopathy with abundant macrophages MONDO:0020122 Orphanet:247718 Orphanet:98482 acquired idiopathic inflammatory myopathy MONDO:0016610 idiopathic eosinophilic myositis MONDO:0020122 Orphanet:247724 Orphanet:98482 acquired idiopathic inflammatory myopathy MONDO:0016614 autosomal recessive ataxia due to PEX10 deficiency MONDO:0020044 Orphanet:247815 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia MONDO:0016619 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016535 Orphanet:248 Orphanet:238468 hypohidrotic ectodermal dysplasia MONDO:0016642 meningioma MONDO:0016743 Orphanet:2495 Orphanet:252025 tumor of meninges MONDO:0016644 logopenic progressive aphasia MONDO:0019806 Orphanet:250831 Orphanet:95432 primary progressive aphasia MONDO:0016646 autosomal dominant optic atrophy and peripheral neuropathy MONDO:0020250 Orphanet:250932 Orphanet:98672 autosomal dominant optic atrophy MONDO:0016652 2q31.1 microdeletion syndrome MONDO:0016901 Orphanet:251014 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0016653 2q33.1 microdeletion syndrome MONDO:0016901 Orphanet:251028 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0016655 6p22 microdeletion syndrome MONDO:0016888 Orphanet:251046 Orphanet:261902 partial deletion of the short arm of chromosome 6 MONDO:0016656 7q31 microdeletion syndrome MONDO:0016906 Orphanet:251061 Orphanet:262056 partial deletion of the long arm of chromosome 7 MONDO:0016657 8p11.2 deletion syndrome MONDO:0016890 Orphanet:251066 Orphanet:261920 partial deletion of the short arm of chromosome 8 MONDO:0016658 8p23.1 microdeletion syndrome MONDO:0016890 Orphanet:251071 Orphanet:261920 partial deletion of the short arm of chromosome 8 MONDO:0016659 8p23.1 duplication syndrome MONDO:0016945 Orphanet:251076 Orphanet:262758 partial duplication of the short arm of chromosome 8 MONDO:0016660 autosomal recessive primary microcephaly MONDO:0016056 Orphanet:2512 Orphanet:199642 isolated congenital microcephaly MONDO:0016664 drug-induced vasculitis MONDO:0018640 Orphanet:251325 Orphanet:445197 secondary vasculitis MONDO:0016675 distal arthrogryposis type 10 MONDO:0019942 Orphanet:251515 Orphanet:97120 distal arthrogryposis MONDO:0016680 high grade astrocytic tumor MONDO:0021636 Orphanet:251561 Orphanet:94 astrocytic tumor MONDO:0016683 gliomatosis cerebri MONDO:0016680 Orphanet:251582 Orphanet:251561 high grade astrocytic tumor MONDO:0016684 anaplastic astrocytoma MONDO:0016680 Orphanet:251589 Orphanet:251561 high grade astrocytic tumor MONDO:0016686 diffuse astrocytoma MONDO:0016685 Orphanet:251595 Orphanet:251592 low-grade astrocytoma MONDO:0016687 protoplasmic astrocytoma MONDO:0016686 Orphanet:251598 Orphanet:251595 diffuse astrocytoma MONDO:0016688 fibrillary astrocytoma MONDO:0016686 Orphanet:251601 Orphanet:251595 diffuse astrocytoma MONDO:0016689 gemistocytic astrocytoma MONDO:0016686 Orphanet:251604 Orphanet:251595 diffuse astrocytoma MONDO:0016690 pleomorphic xanthoastrocytoma MONDO:0016685 Orphanet:251607 Orphanet:251592 low-grade astrocytoma MONDO:0016691 pilocytic astrocytoma MONDO:0016685 Orphanet:251612 Orphanet:251592 low-grade astrocytoma MONDO:0016692 pilomyxoid astrocytoma MONDO:0016691 Orphanet:251615 Orphanet:251612 pilocytic astrocytoma MONDO:0016693 subependymal giant cell astrocytoma MONDO:0016685 Orphanet:251618 Orphanet:251592 low-grade astrocytoma MONDO:0016695 oligodendroglioma MONDO:0018744 Orphanet:251627 Orphanet:46484 oligodendroglial tumor MONDO:0016696 anaplastic oligodendroglioma MONDO:0018744 Orphanet:251630 Orphanet:46484 oligodendroglial tumor MONDO:0016698 ependymoma MONDO:0003266 Orphanet:251636 Orphanet:301 ependymal tumor MONDO:0016699 myxopapillary ependymoma MONDO:0003266 Orphanet:251643 Orphanet:301 ependymal tumor MONDO:0016700 anaplastic ependymoma MONDO:0003266 Orphanet:251646 Orphanet:301 ependymal tumor MONDO:0016709 anaplastic/large cell medulloblastoma MONDO:0007959 Orphanet:251855 Orphanet:616 medulloblastoma MONDO:0016710 medulloblastoma with extensive nodularity MONDO:0007959 Orphanet:251858 Orphanet:616 medulloblastoma MONDO:0016711 desmoplastic/nodular medulloblastoma MONDO:0007959 Orphanet:251863 Orphanet:616 medulloblastoma MONDO:0016712 classic medulloblastoma MONDO:0007959 Orphanet:251867 Orphanet:616 medulloblastoma MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO:0015159 Orphanet:2519 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016730 gangliocytoma MONDO:0016729 Orphanet:251937 Orphanet:251934 mixed neuronal-glial tumor MONDO:0016731 desmoplastic infantile astrocytoma/ganglioglioma MONDO:0016729 Orphanet:251940 Orphanet:251934 mixed neuronal-glial tumor MONDO:0016733 ganglioglioma MONDO:0016729 Orphanet:251949 Orphanet:251934 mixed neuronal-glial tumor MONDO:0016735 papillary glioneuronal tumor MONDO:0016729 Orphanet:251962 Orphanet:251934 mixed neuronal-glial tumor MONDO:0016736 rosette-forming glioneuronal tumor of fourth ventricule MONDO:0016729 Orphanet:251975 Orphanet:251934 mixed neuronal-glial tumor MONDO:0016739 yolk sac tumor of central nervous system MONDO:0005744 Orphanet:252006 Orphanet:876 yolk sac tumor MONDO:0016750 microcephaly-cleft palate syndrome MONDO:0015159 Orphanet:2521 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016752 benign peripheral nerve sheath tumor MONDO:0016749 Orphanet:252131 Orphanet:252057 tumor of cranial and spinal nerves MONDO:0016755 neurofibroma MONDO:0016752 Orphanet:252183 Orphanet:252131 benign peripheral nerve sheath tumor MONDO:0016757 malignant triton tumor MONDO:0017827 Orphanet:252212 Orphanet:3148 malignant peripheral nerve sheath tumor MONDO:0016759 pontocerebellar hypoplasia type 2 MONDO:0020135 Orphanet:2524 Orphanet:98523 pontocerebellar hypoplasia MONDO:0016760 microcephaly-microcornea syndrome, Seemanova type MONDO:0015159 Orphanet:2528 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016763 spondylometaphyseal dysplasia MONDO:0018230 Orphanet:254 Orphanet:364526 skeletal dysplasia MONDO:0016765 19p13.12 microdeletion syndrome MONDO:0016897 Orphanet:254346 Orphanet:261983 partial deletion of the short arm of chromosome 19 MONDO:0016776 frontal fibrosing alopecia MONDO:0004907 Orphanet:254492 Orphanet:79364 alopecia MONDO:0016777 inhalational botulism MONDO:0005498 Orphanet:254504 Orphanet:1267 botulism MONDO:0016778 iatrogenic botulism MONDO:0005498 Orphanet:254509 Orphanet:1267 botulism MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:0015159 Orphanet:254519 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016780 paternal 14q32.2 microdeletion syndrome MONDO:0014541 Orphanet:254525 Orphanet:254516 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0016780 paternal 14q32.2 microdeletion syndrome MONDO:0016912 Orphanet:254525 Orphanet:262110 partial deletion of the long arm of chromosome 14 MONDO:0016781 maternal 14q32.2 microdeletion syndrome MONDO:0016779 Orphanet:254528 Orphanet:254519 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:0016782 paternal 14q32.2 hypomethylation syndrome MONDO:0014541 Orphanet:254531 Orphanet:254516 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0016783 maternal 14q32.2 hypermethylation syndrome MONDO:0016779 Orphanet:254534 Orphanet:254519 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO:0016785 complete hydatidiform mole MONDO:0006248 Orphanet:254688 Orphanet:99927 hydatidiform mole MONDO:0016786 partial hydatidiform mole MONDO:0006248 Orphanet:254693 Orphanet:99927 hydatidiform mole MONDO:0016787 epithelioid trophoblastic tumor MONDO:0018944 Orphanet:254698 Orphanet:59305 gestational trophoblastic neoplasm MONDO:0016789 pyruvate metabolism disorder MONDO:0019243 Orphanet:254746 Orphanet:79200 inborn disorder of energy metabolism MONDO:0016790 tricarboxylic acid cycle disorder MONDO:0019243 Orphanet:254749 Orphanet:79200 inborn disorder of energy metabolism MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO:0018158 Orphanet:254803 Orphanet:35698 mitochondrial DNA depletion syndrome MONDO:0016800 mitochondrial membrane transport disorder MONDO:0004069 Orphanet:254827 Orphanet:68380 inborn mitochondrial metabolism disorder MONDO:0016801 mitochondrial substrate carrier disorder MONDO:0016800 Orphanet:254830 Orphanet:254827 mitochondrial membrane transport disorder MONDO:0016802 mitochondrial protein import disorder MONDO:0016800 Orphanet:254834 Orphanet:254827 mitochondrial membrane transport disorder MONDO:0016810 autosomal recessive progressive external ophthalmoplegia MONDO:0005181 Orphanet:254886 Orphanet:520820 progressive external ophthalmoplegia MONDO:0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome MONDO:0009637 Orphanet:2597 Orphanet:206966 inborn mitochondrial myopathy MONDO:0016826 methylmalonic aciduria and homocystinuria MONDO:0019215 Orphanet:26 Orphanet:79163 classic organic aciduria MONDO:0016826 methylmalonic aciduria and homocystinuria MONDO:0019220 Orphanet:26 Orphanet:79171 inborn disorder of cobalamin metabolism and transport MONDO:0016828 autosomal recessive sideroblastic anemia MONDO:0020099 Orphanet:260305 Orphanet:98362 inherited sideroblastic anemia MONDO:0016830 Emery-Dreifuss muscular dystrophy MONDO:0016106 Orphanet:261 Orphanet:206644 progressive muscular dystrophy MONDO:0016833 14q12 microdeletion syndrome MONDO:0016912 Orphanet:261144 Orphanet:262110 partial deletion of the long arm of chromosome 14 MONDO:0016834 16p11.2p12.2 microduplication syndrome MONDO:0016949 Orphanet:261204 Orphanet:262794 partial duplication of the short arm of chromosome 16 MONDO:0016835 14q11.2 microduplication syndrome MONDO:0016964 Orphanet:261229 Orphanet:262941 partial duplication of the long arm of chromosome 14 MONDO:0016836 16p13.11 microdeletion syndrome MONDO:0016894 Orphanet:261236 Orphanet:261956 partial deletion of the short arm of chromosome 16 MONDO:0016837 16p13.11 microduplication syndrome MONDO:0016949 Orphanet:261243 Orphanet:262794 partial duplication of the short arm of chromosome 16 MONDO:0016838 16q24.3 microdeletion syndrome MONDO:0016914 Orphanet:261250 Orphanet:262128 partial deletion of the long arm of chromosome 16 MONDO:0016839 distal 17p13.3 microdeletion syndrome MONDO:0022754 Orphanet:261257 Orphanet:261965 chromosome 17p deletion MONDO:0016840 trisomy 17p MONDO:0016950 Orphanet:261290 Orphanet:262803 partial duplication of the short arm of chromosome 17 MONDO:0016841 20p12.3 microdeletion syndrome MONDO:0016898 Orphanet:261295 Orphanet:261992 partial monosomy of the short arm of chromosome 20 MONDO:0016842 paternal 20q13.2q13.3 microdeletion syndrome MONDO:0016918 Orphanet:261304 Orphanet:262164 partial deletion of the long arm of chromosome 20 MONDO:0016843 20q13.33 microdeletion syndrome MONDO:0016918 Orphanet:261311 Orphanet:262164 partial deletion of the long arm of chromosome 20 MONDO:0016844 trisomy 20p MONDO:0016938 Orphanet:261318 Orphanet:262692 partial trisomy of chromosome 20 MONDO:0016845 21q22.11q22.12 microdeletion syndrome MONDO:0016919 Orphanet:261323 Orphanet:262173 partial deletion of the long arm of chromosome 21 MONDO:0016847 trisomy 1q MONDO:0016952 Orphanet:261344 Orphanet:262833 partial duplication of the long arm of chromosome 1 MONDO:0016850 atypical Norrie disease due to monosomy Xp11.3 MONDO:0017004 Orphanet:261501 Orphanet:263731 partial monosomy of the short arm of chromosome X MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 MONDO:0009341 Orphanet:261537 Orphanet:2152 Mowat-Wilson syndrome MONDO:0016855 Mowat-Wilson syndrome due to monosomy 2q22 MONDO:0016901 Orphanet:261537 Orphanet:262010 partial deletion of the long arm of chromosome 2 MONDO:0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation MONDO:0009341 Orphanet:261552 Orphanet:2152 Mowat-Wilson syndrome MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion MONDO:0016904 Orphanet:261584 Orphanet:262038 partial deletion of the long arm of chromosome 5 MONDO:0016860 familial adenomatous polyposis due to 5q22.2 microdeletion MONDO:0021055 Orphanet:261584 Orphanet:733 classic familial adenomatous polyposis MONDO:0016861 Alagille syndrome due to 20p12 microdeletion MONDO:0007318 Orphanet:261600 Orphanet:52 Alagille syndrome MONDO:0016861 Alagille syndrome due to 20p12 microdeletion MONDO:0016898 Orphanet:261600 Orphanet:261992 partial monosomy of the short arm of chromosome 20 MONDO:0016862 Alagille syndrome due to a JAG1 point mutation MONDO:0007318 Orphanet:261619 Orphanet:52 Alagille syndrome MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion MONDO:0011812 Orphanet:261638 Orphanet:93293 Duane-radial ray syndrome MONDO:0016863 Okihiro syndrome due to 20q13 microdeletion MONDO:0016918 Orphanet:261638 Orphanet:262164 partial deletion of the long arm of chromosome 20 MONDO:0016864 Okihiro syndrome due to a point mutation MONDO:0011812 Orphanet:261647 Orphanet:93293 Duane-radial ray syndrome MONDO:0016865 Kleefstra syndrome due to a point mutation MONDO:0012455 Orphanet:261652 Orphanet:261494 Kleefstra syndrome MONDO:0016877 partial deletion of the long arm of chromosome 12 MONDO:0017277 Orphanet:261821 Orphanet:282124 partial deletion of chromosome 12 MONDO:0016883 partial deletion of the short arm of chromosome 1 MONDO:0016866 Orphanet:261857 Orphanet:261766 partial deletion of chromosome 1 MONDO:0016884 partial deletion of the short arm of chromosome 2 MONDO:0016867 Orphanet:261866 Orphanet:261771 partial deletion of chromosome 2 MONDO:0016885 partial deletion of the short arm of chromosome 3 MONDO:0016868 Orphanet:261875 Orphanet:261776 partial deletion of chromosome 3 MONDO:0016887 partial deletion of the short arm of chromosome 5 MONDO:0016870 Orphanet:261893 Orphanet:261786 partial deletion of chromosome 5 MONDO:0016888 partial deletion of the short arm of chromosome 6 MONDO:0016871 Orphanet:261902 Orphanet:261791 partial deletion of chromosome 6 MONDO:0016889 partial deletion of the short arm of chromosome 7 MONDO:0016872 Orphanet:261911 Orphanet:261796 partial deletion of chromosome 7 MONDO:0016890 partial deletion of the short arm of chromosome 8 MONDO:0016873 Orphanet:261920 Orphanet:261801 partial deletion of chromosome 8 MONDO:0016892 partial deletion of the short arm of chromosome 10 MONDO:0016875 Orphanet:261938 Orphanet:261811 partial deletion of chromosome 10 MONDO:0016893 partial deletion of the short arm of chromosome 11 MONDO:0016876 Orphanet:261947 Orphanet:261816 partial deletion of chromosome 11 MONDO:0016894 partial deletion of the short arm of chromosome 16 MONDO:0016878 Orphanet:261956 Orphanet:261826 partial deletion of chromosome 16 MONDO:0016897 partial deletion of the short arm of chromosome 19 MONDO:0016881 Orphanet:261983 Orphanet:261841 partial deletion of chromosome 19 MONDO:0016898 partial monosomy of the short arm of chromosome 20 MONDO:0016882 Orphanet:261992 Orphanet:261846 partial deletion of chromosome 20 MONDO:0016901 partial deletion of the long arm of chromosome 2 MONDO:0016867 Orphanet:262010 Orphanet:261771 partial deletion of chromosome 2 MONDO:0016902 partial deletion of the long arm of chromosome 3 MONDO:0016868 Orphanet:262019 Orphanet:261776 partial deletion of chromosome 3 MONDO:0016903 partial deletion of the long arm of chromosome 4 MONDO:0016869 Orphanet:262029 Orphanet:261781 partial deletion of chromosome 4 MONDO:0016904 partial deletion of the long arm of chromosome 5 MONDO:0016870 Orphanet:262038 Orphanet:261786 partial deletion of chromosome 5 MONDO:0016905 partial deletion of the long arm of chromosome 6 MONDO:0016871 Orphanet:262047 Orphanet:261791 partial deletion of chromosome 6 MONDO:0016906 partial deletion of the long arm of chromosome 7 MONDO:0016872 Orphanet:262056 Orphanet:261796 partial deletion of chromosome 7 MONDO:0016907 partial deletion of the long arm of chromosome 8 MONDO:0016873 Orphanet:262065 Orphanet:261801 partial deletion of chromosome 8 MONDO:0016908 partial monosomy of the long arm of chromosome 9 MONDO:0016874 Orphanet:262074 Orphanet:261806 partial deletion of chromosome 9 MONDO:0016909 partial monosomy of the long arm of chromosome 10 MONDO:0016875 Orphanet:262083 Orphanet:261811 partial deletion of chromosome 10 MONDO:0016910 partial deletion of the long arm of chromosome 11 MONDO:0016876 Orphanet:262092 Orphanet:261816 partial deletion of chromosome 11 MONDO:0016914 partial deletion of the long arm of chromosome 16 MONDO:0016878 Orphanet:262128 Orphanet:261826 partial deletion of chromosome 16 MONDO:0016915 partial deletion of the long arm of chromosome 17 MONDO:0016879 Orphanet:262137 Orphanet:261831 partial deletion of chromosome 17 MONDO:0016917 partial deletion of the long arm of chromosome 19 MONDO:0016881 Orphanet:262155 Orphanet:261841 partial deletion of chromosome 19 MONDO:0016918 partial deletion of the long arm of chromosome 20 MONDO:0016882 Orphanet:262164 Orphanet:261846 partial deletion of chromosome 20 MONDO:0016939 partial duplication of the short arm of chromosome 2 MONDO:0016922 Orphanet:262698 Orphanet:262196 partial duplication of chromosome 2 MONDO:0016940 partial duplication of the short arm of chromosome 3 MONDO:0016923 Orphanet:262707 Orphanet:262201 partial duplication of chromosome 3 MONDO:0016941 partial duplication of the short arm of chromosome 4 MONDO:0016924 Orphanet:262716 Orphanet:262206 partial duplication of chromosome 4 MONDO:0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 MONDO:0016925 Orphanet:262725 Orphanet:262211 partial trisomy/tetrasomy of chromosome 5 MONDO:0016943 partial duplication of the short arm of chromosome 6 MONDO:0016927 Orphanet:262740 Orphanet:262628 partial duplication of chromosome 6 MONDO:0016944 partial duplication of the short arm of chromosome 7 MONDO:0016928 Orphanet:262749 Orphanet:262633 partial duplication of chromosome 7 MONDO:0016945 partial duplication of the short arm of chromosome 8 MONDO:0016929 Orphanet:262758 Orphanet:262638 partial duplication of chromosome 8 MONDO:0016947 partial duplication of the short arm of chromosome 10 MONDO:0016931 Orphanet:262776 Orphanet:262648 partial duplication of chromosome 10 MONDO:0016948 partial duplication of the short arm of chromosome 11 MONDO:0016932 Orphanet:262785 Orphanet:262653 partial duplication of chromosome 11 MONDO:0016949 partial duplication of the short arm of chromosome 16 MONDO:0016934 Orphanet:262794 Orphanet:262672 partial duplication of chromosome 16 MONDO:0016950 partial duplication of the short arm of chromosome 17 MONDO:0016935 Orphanet:262803 Orphanet:262677 partial duplication of chromosome 17 MONDO:0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 MONDO:0016936 Orphanet:262812 Orphanet:262682 partial trisomy/tetrasomy of chromosome 18 MONDO:0016952 partial duplication of the long arm of chromosome 1 MONDO:0016921 Orphanet:262833 Orphanet:262191 partial duplication of chromosome 1 MONDO:0016953 partial duplication of the long arm of chromosome 2 MONDO:0016922 Orphanet:262842 Orphanet:262196 partial duplication of chromosome 2 MONDO:0016954 partial duplication of the long arm of chromosome 3 MONDO:0016923 Orphanet:262851 Orphanet:262201 partial duplication of chromosome 3 MONDO:0016955 partial duplication of the long arm of chromosome 4 MONDO:0016924 Orphanet:262860 Orphanet:262206 partial duplication of chromosome 4 MONDO:0016956 partial trisomy of the long arm of chromosome 5 MONDO:0016925 Orphanet:262869 Orphanet:262211 partial trisomy/tetrasomy of chromosome 5 MONDO:0016957 partial duplication of the long arm of chromosome 6 MONDO:0016927 Orphanet:262878 Orphanet:262628 partial duplication of chromosome 6 MONDO:0016958 partial duplication of the long arm of chromosome 7 MONDO:0016928 Orphanet:262887 Orphanet:262633 partial duplication of chromosome 7 MONDO:0016959 partial duplication of the long arm of chromosome 8 MONDO:0016929 Orphanet:262896 Orphanet:262638 partial duplication of chromosome 8 MONDO:0016960 partial trisomy of the long arm of chromosome 9 MONDO:0016930 Orphanet:262905 Orphanet:262643 partial trisomy/tetrasomy of chromosome 9 MONDO:0016961 partial duplication of the long arm of chromosome 10 MONDO:0016931 Orphanet:262914 Orphanet:262648 partial duplication of chromosome 10 MONDO:0016966 partial trisomy of the long arm of chromosome 16 MONDO:0016934 Orphanet:262959 Orphanet:262672 partial duplication of chromosome 16 MONDO:0016967 partial duplication of the long arm of chromosome 17 MONDO:0016935 Orphanet:262968 Orphanet:262677 partial duplication of chromosome 17 MONDO:0016968 partial trisomy of the long arm of chromosome 18 MONDO:0016936 Orphanet:262977 Orphanet:262682 partial trisomy/tetrasomy of chromosome 18 MONDO:0016969 partial duplication of the long arm of chromosome 19 MONDO:0016937 Orphanet:262986 Orphanet:262687 partial duplication of chromosome 19 MONDO:0016970 partial trisomy of the long arm of chromosome 20 MONDO:0016938 Orphanet:262995 Orphanet:262692 partial trisomy of chromosome 20 MONDO:0016971 limb-girdle muscular dystrophy MONDO:0016106 Orphanet:263 Orphanet:206644 progressive muscular dystrophy MONDO:0016974 thymoma type B MONDO:0006456 Orphanet:263317 Orphanet:99867 thymoma MONDO:0016975 thymoma type AB MONDO:0006456 Orphanet:263324 Orphanet:99867 thymoma MONDO:0016976 well-differentiated thymic neuroendocrine carcinoma MONDO:0020516 Orphanet:263331 Orphanet:99869 thymic neuroendocrine carcinoma MONDO:0016977 moderately-differentiated thymic neuroendocrine carcinoma MONDO:0020516 Orphanet:263335 Orphanet:99869 thymic neuroendocrine carcinoma MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma MONDO:0020516 Orphanet:263339 Orphanet:99869 thymic neuroendocrine carcinoma MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO:0017578 Orphanet:263410 Orphanet:298644 disorder of thiamine metabolism and transport MONDO:0016982 angiosarcoma MONDO:0002095 Orphanet:263413 Orphanet:673466 vascular cancer MONDO:0016982 angiosarcoma MONDO:0018078 Orphanet:263413 Orphanet:3394 soft tissue sarcoma MONDO:0016987 neuroacanthocytosis MONDO:0015548 Orphanet:263440 Orphanet:158266 Huntington disease-like syndrome MONDO:0016988 hyperinsulinism due to HNF4A deficiency MONDO:0015624 Orphanet:263455 Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism MONDO:0016989 Fuchs heterochromic iridocyclitis MONDO:0017634 Orphanet:263479 Orphanet:306648 non-infectious anterior uveitis MONDO:0016995 familial multiple meningioma MONDO:0016743 Orphanet:263662 Orphanet:252025 tumor of meninges MONDO:0017004 partial monosomy of the short arm of chromosome X MONDO:0017003 Orphanet:263731 Orphanet:263726 partial deletion of chromosome X MONDO:0017007 partial deletion of the long arm of chromosome X MONDO:0017003 Orphanet:263756 Orphanet:263726 partial deletion of chromosome X MONDO:0017009 partial duplication of the short arm of chromosome X MONDO:0017008 Orphanet:263775 Orphanet:263768 partial duplication of chromosome X MONDO:0017010 partial duplication of the long arm of chromosome X MONDO:0017008 Orphanet:263783 Orphanet:263768 partial duplication of chromosome X MONDO:0017012 partial duplication of the short arm of chromosome 1 MONDO:0016921 Orphanet:264431 Orphanet:262191 partial duplication of chromosome 1 MONDO:0017013 trisomy 8p MONDO:0016945 Orphanet:264450 Orphanet:262758 partial duplication of the short arm of chromosome 8 MONDO:0017014 interstitial lung disease specific to childhood MONDO:0015925 Orphanet:264656 Orphanet:182095 interstitial lung disease MONDO:0017015 primary interstitial lung disease specific to childhood MONDO:0017014 Orphanet:264665 Orphanet:264656 interstitial lung disease specific to childhood MONDO:0017019 interstitial lung disease specific to infancy MONDO:0017015 Orphanet:264694 Orphanet:264665 primary interstitial lung disease specific to childhood MONDO:0017026 interstitial lung disease specific to adulthood MONDO:0015925 Orphanet:264735 Orphanet:182095 interstitial lung disease MONDO:0017042 thanatophoric dysplasia MONDO:0019685 Orphanet:2655 Orphanet:93420 FGFR3-related chondrodysplasia MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome MONDO:0019741 Orphanet:2666 Orphanet:93587 familial cystic renal disease MONDO:0017051 classic maple syrup urine disease MONDO:0009563 Orphanet:268145 Orphanet:511 maple syrup urine disease MONDO:0017052 intermediate maple syrup urine disease MONDO:0009563 Orphanet:268162 Orphanet:511 maple syrup urine disease MONDO:0017053 intermittent maple syrup urine disease MONDO:0009563 Orphanet:268173 Orphanet:511 maple syrup urine disease MONDO:0017054 thiamine-responsive maple syrup urine disease MONDO:0009563 Orphanet:268184 Orphanet:511 maple syrup urine disease MONDO:0017055 mycophenolate mofetil embryopathy MONDO:0016677 Orphanet:268249 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion MONDO:0013578 Orphanet:268261 Orphanet:464306 DYRK1A-related intellectual disability syndrome MONDO:0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion MONDO:0016919 Orphanet:268261 Orphanet:262173 partial deletion of the long arm of chromosome 21 MONDO:0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease MONDO:0018778 Orphanet:268337 Orphanet:476123 intermediate Charcot-Marie-Tooth disease MONDO:0017060 open iniencephaly MONDO:0018968 Orphanet:268363 Orphanet:63259 iniencephaly MONDO:0017061 closed iniencephaly MONDO:0018968 Orphanet:268366 Orphanet:63259 iniencephaly MONDO:0017062 spina bifida aperta MONDO:0019351 Orphanet:268369 Orphanet:823 isolated spina bifida MONDO:0017069 spina bifida cystica MONDO:0019351 Orphanet:268744 Orphanet:823 isolated spina bifida MONDO:0017076 posterior meningocele MONDO:0017069 Orphanet:268810 Orphanet:268744 spina bifida cystica MONDO:0017077 myelocystocele MONDO:0017069 Orphanet:268813 Orphanet:268744 spina bifida cystica MONDO:0017079 meningoencephalocele MONDO:0017078 Orphanet:268820 Orphanet:268817 cephalocele MONDO:0017080 occipital encephalocele MONDO:0016057 Orphanet:268823 Orphanet:199647 isolated encephalocele MONDO:0017081 parietal encephalocele MONDO:0016057 Orphanet:268826 Orphanet:199647 isolated encephalocele MONDO:0017082 basal encephalocele MONDO:0016057 Orphanet:268829 Orphanet:199647 isolated encephalocele MONDO:0017089 isolated megalencephaly MONDO:0016608 Orphanet:268920 Orphanet:2477 megalencephaly MONDO:0017091 bilateral polymicrogyria MONDO:0000087 Orphanet:268940 Orphanet:35981 polymicrogyria MONDO:0017092 unilateral polymicrogyria MONDO:0000087 Orphanet:268943 Orphanet:35981 polymicrogyria MONDO:0017093 unilateral focal polymicrogyria MONDO:0017092 Orphanet:268947 Orphanet:268943 unilateral polymicrogyria MONDO:0017095 isolated focal cortical dysplasia type I MONDO:0019009 Orphanet:268961 Orphanet:65683 isolated focal cortical dysplasia MONDO:0017096 isolated focal cortical dysplasia type Ia MONDO:0017095 Orphanet:268973 Orphanet:268961 isolated focal cortical dysplasia type I MONDO:0017097 isolated focal cortical dysplasia type Ib MONDO:0017095 Orphanet:268980 Orphanet:268961 isolated focal cortical dysplasia type I MONDO:0017098 isolated focal cortical dysplasia type Ic MONDO:0017095 Orphanet:268987 Orphanet:268961 isolated focal cortical dysplasia type I MONDO:0017101 isolated focal cortical dysplasia type IIa MONDO:0011818 Orphanet:269001 Orphanet:268994 isolated focal cortical dysplasia type II MONDO:0017102 isolated focal cortical dysplasia type IIb MONDO:0011818 Orphanet:269008 Orphanet:268994 isolated focal cortical dysplasia type II MONDO:0017108 isolated total cerebellar vermis agenesis MONDO:0017107 Orphanet:269206 Orphanet:269203 isolated cerebellar vermis agenesis MONDO:0017109 isolated partial cerebellar vermis agenesis MONDO:0017107 Orphanet:269209 Orphanet:269203 isolated cerebellar vermis agenesis MONDO:0017110 isolated Dandy-Walker malformation with hydrocephalus MONDO:0009072 Orphanet:269212 Orphanet:217 Dandy-Walker syndrome MONDO:0017111 isolated Dandy-Walker malformation without hydrocephalus MONDO:0009072 Orphanet:269215 Orphanet:217 Dandy-Walker syndrome MONDO:0017116 congenital communicating hydrocephalus MONDO:0016349 Orphanet:269505 Orphanet:2185 congenital hydrocephalus MONDO:0017117 congenital non-communicating hydrocephalus MONDO:0016349 Orphanet:269510 Orphanet:2185 congenital hydrocephalus MONDO:0017123 arthrogryposis-renal dysfunction-cholestasis syndrome MONDO:0017755 Orphanet:2697 Orphanet:309816 inborn disorder of bilirubin metabolism MONDO:0017134 odonto-onycho dysplasia-alopecia syndrome MONDO:0019287 Orphanet:2722 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0017137 onchocerciasis MONDO:0016075 Orphanet:2737 Orphanet:2034 filariasis MONDO:0017138 Opitz G/BBB syndrome MONDO:0008537 Orphanet:2745 Orphanet:98575 telecanthus MONDO:0017138 Opitz G/BBB syndrome MONDO:0015159 Orphanet:2745 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017139 oromandibular-limb hypogenesis syndrome MONDO:0015498 Orphanet:2749 Orphanet:156215 oromandibular-limb anomalies syndrome MONDO:0017145 beta-thalassemia and related diseases MONDO:0019050 Orphanet:275749 Orphanet:68364 inherited hemoglobinopathy MONDO:0017149 drug- or toxin-induced pulmonary arterial hypertension MONDO:0015924 Orphanet:275786 Orphanet:182090 pulmonary arterial hypertension MONDO:0017160 behavioral variant of frontotemporal dementia MONDO:0017276 Orphanet:275864 Orphanet:282 frontotemporal dementia MONDO:0017169 multiple endocrine neoplasia MONDO:0015079 Orphanet:276161 Orphanet:100094 multiple polyglandular tumor MONDO:0017171 mucopolysaccharidosis type 6, rapidly progressing MONDO:0009661 Orphanet:276212 Orphanet:583 mucopolysaccharidosis type 6 MONDO:0017172 mucopolysaccharidosis type 6, slowly progressing MONDO:0009661 Orphanet:276223 Orphanet:583 mucopolysaccharidosis type 6 MONDO:0017174 Machado-Joseph disease type 1 MONDO:0007182 Orphanet:276238 Orphanet:98757 Machado-Joseph disease MONDO:0017175 Machado-Joseph disease type 2 MONDO:0007182 Orphanet:276241 Orphanet:98757 Machado-Joseph disease MONDO:0017176 Machado-Joseph disease type 3 MONDO:0007182 Orphanet:276244 Orphanet:98757 Machado-Joseph disease MONDO:0017180 10q22.3q23.3 microduplication syndrome MONDO:0016961 Orphanet:276422 Orphanet:262914 partial duplication of the long arm of chromosome 10 MONDO:0017182 familial hyperinsulinism MONDO:0005803 Orphanet:276525 Orphanet:443095 hyperinsulinemic hypoglycemia MONDO:0017183 hyperinsulinism due to UCP2 deficiency MONDO:0015624 Orphanet:276556 Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism MONDO:0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency MONDO:0015624 Orphanet:276575 Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism MONDO:0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency MONDO:0015624 Orphanet:276580 Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism MONDO:0017186 diazoxide-resistant hyperinsulinism MONDO:0019010 Orphanet:276585 Orphanet:657 congenital isolated hyperinsulinism MONDO:0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency MONDO:0019265 Orphanet:276598 Orphanet:79298 diazoxide-resistant focal hyperinsulinism MONDO:0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency MONDO:0019265 Orphanet:276603 Orphanet:79298 diazoxide-resistant focal hyperinsulinism MONDO:0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia MONDO:0017182 Orphanet:276608 Orphanet:276525 familial hyperinsulinism MONDO:0017194 Blount disease MONDO:0019698 Orphanet:2768 Orphanet:93439 bent bone dysplasia MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome MONDO:0019289 Orphanet:2779 Orphanet:79375 hyperpigmentation of the skin MONDO:0017205 primary oculocerebral lymphoma MONDO:0017207 Orphanet:279897 Orphanet:279911 primary organ-specific lymphoma MONDO:0017207 primary organ-specific lymphoma MONDO:0005062 Orphanet:279911 Orphanet:223735 lymphoma MONDO:0017209 infectious posterior uveitis MONDO:0001280 Orphanet:279919 Orphanet:280892 choroiditis MONDO:0017211 infectious panuveitis MONDO:0017255 Orphanet:279925 Orphanet:280898 panuveitis MONDO:0017214 vitamin B12-responsive methylmalonic acidemia MONDO:0019220 Orphanet:28 Orphanet:79171 inborn disorder of cobalamin metabolism and transport MONDO:0017216 calciphylaxis cutis MONDO:0017215 Orphanet:280065 Orphanet:280062 calciphylaxis MONDO:0017216 calciphylaxis cutis MONDO:0019293 Orphanet:280065 Orphanet:79379 skin vascular disease MONDO:0017217 visceral calciphylaxis MONDO:0017215 Orphanet:280068 Orphanet:280062 calciphylaxis MONDO:0017220 laryngotracheoesophageal cleft type 0 MONDO:0016060 Orphanet:280205 Orphanet:2004 laryngotracheoesophageal cleft MONDO:0017221 Pelizaeus-Merzbacher disease, connatal form MONDO:0010714 Orphanet:280210 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder MONDO:0017222 Pelizaeus-Merzbacher disease, classic form MONDO:0010714 Orphanet:280219 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder MONDO:0017223 Pelizaeus-Merzbacher disease, transitional form MONDO:0010714 Orphanet:280224 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder MONDO:0017224 Pelizaeus-Merzbacher disease in female carriers MONDO:0010714 Orphanet:280229 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder MONDO:0017225 null syndrome MONDO:0010714 Orphanet:280234 Orphanet:702 Pelizeaus-Merzbacher spectrum disorder MONDO:0017226 Pelizaeus-Merzbacher-like disease MONDO:0019046 Orphanet:280270 Orphanet:68356 leukodystrophy MONDO:0017227 autoimmune pancreatitis type 1 MONDO:0015175 Orphanet:280302 Orphanet:103919 autoimmune pancreatitis MONDO:0017228 autoimmune pancreatitis type 2 MONDO:0015175 Orphanet:280315 Orphanet:103919 autoimmune pancreatitis MONDO:0017229 distal monosomy 12p MONDO:0022174 Orphanet:280325 Orphanet:316244 chromosome 12p deletion MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0020088 Orphanet:280365 Orphanet:98306 familial partial lipodystrophy MONDO:0017238 hemoglobinopathy Toms River MONDO:0019050 Orphanet:280615 Orphanet:68364 inherited hemoglobinopathy MONDO:0017242 cutaneous collagenous vasculopathy MONDO:0019293 Orphanet:280779 Orphanet:79379 skin vascular disease MONDO:0017243 bullous diffuse cutaneous mastocytosis MONDO:0019315 Orphanet:280785 Orphanet:79456 diffuse cutaneous mastocytosis MONDO:0017244 pseudoxanthomatous diffuse cutaneous mastocytosis MONDO:0019315 Orphanet:280794 Orphanet:79456 diffuse cutaneous mastocytosis MONDO:0017245 intralobar congenital pulmonary sequestration MONDO:0017843 Orphanet:280802 Orphanet:3161 congenital pulmonary sequestration MONDO:0017246 extralobar congenital pulmonary sequestration MONDO:0017843 Orphanet:280811 Orphanet:3161 congenital pulmonary sequestration MONDO:0017247 communicating congenital bronchopulmonary-foregut malformation MONDO:0017843 Orphanet:280821 Orphanet:3161 congenital pulmonary sequestration MONDO:0017248 congenital pulmonary airway malformation type 0 MONDO:0016580 Orphanet:280827 Orphanet:2444 congenital pulmonary airway malformation MONDO:0017249 congenital pulmonary airway malformation type 1 MONDO:0016580 Orphanet:280832 Orphanet:2444 congenital pulmonary airway malformation MONDO:0017250 congenital pulmonary airway malformation type 2 MONDO:0016580 Orphanet:280840 Orphanet:2444 congenital pulmonary airway malformation MONDO:0017251 congenital pulmonary airway malformation type 3 MONDO:0016580 Orphanet:280847 Orphanet:2444 congenital pulmonary airway malformation MONDO:0017252 congenital pulmonary airway malformation type 4 MONDO:0016580 Orphanet:280854 Orphanet:2444 congenital pulmonary airway malformation MONDO:0017255 panuveitis MONDO:0020283 Orphanet:280898 Orphanet:98715 uveitis MONDO:0017258 idiopathic panuveitis MONDO:0017255 Orphanet:280921 Orphanet:280898 panuveitis MONDO:0017264 syndromic recessive X-linked ichthyosis MONDO:0017269 Orphanet:281090 Orphanet:281210 X-linked ichthyosis syndrome MONDO:0017267 self-healing collodion baby MONDO:0017265 Orphanet:281122 Orphanet:281097 autosomal recessive congenital ichthyosis MONDO:0017268 acral self-healing collodion baby MONDO:0017265 Orphanet:281127 Orphanet:281097 autosomal recessive congenital ichthyosis MONDO:0017275 spastic paraplegia-facial-cutaneous lesions syndrome MONDO:0015087 Orphanet:2819 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0017278 autoimmune polyendocrinopathy MONDO:0015126 Orphanet:282196 Orphanet:101956 polyendocrinopathy MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion MONDO:0016892 Orphanet:284169 Orphanet:261938 partial deletion of the short arm of chromosome 10 MONDO:0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion MONDO:0018760 Orphanet:284169 Orphanet:466943 DeSanto-Shinawi syndrome MONDO:0017284 Xp22.13p22.2 duplication syndrome MONDO:0015159 Orphanet:284180 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017284 Xp22.13p22.2 duplication syndrome MONDO:0017009 Orphanet:284180 Orphanet:263775 partial duplication of the short arm of chromosome X MONDO:0017289 fetal lung interstitial tumor MONDO:0011014 Orphanet:284362 Orphanet:64742 pleuropulmonary blastoma MONDO:0017295 glycerol kinase deficiency, juvenile form MONDO:0018459 Orphanet:284411 Orphanet:408 isolated glycerol kinase deficiency MONDO:0017296 glycerol kinase deficiency, adult form MONDO:0018459 Orphanet:284414 Orphanet:408 isolated glycerol kinase deficiency MONDO:0017300 congenital pericardium anomaly MONDO:0019512 Orphanet:2846 Orphanet:88991 congenital heart malformation MONDO:0017303 qualitative or quantitative defects of tropomyosin MONDO:0016139 Orphanet:284790 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0017304 ocular albinism MONDO:0018134 Orphanet:284804 Orphanet:352728 disorder of melanin metabolism MONDO:0017305 syndromic oculocutaneous albinism MONDO:0019290 Orphanet:284811 Orphanet:79376 hypopigmentation of the skin MONDO:0017306 disorder of phenylalanine metabolism MONDO:0019235 Orphanet:284814 Orphanet:79190 inborn disorder of phenylalanine and tyrosine metabolism MONDO:0017307 disorder of tyrosine metabolism MONDO:0019235 Orphanet:284818 Orphanet:79190 inborn disorder of phenylalanine and tyrosine metabolism MONDO:0017312 Perrault syndrome MONDO:0019852 Orphanet:2855 Orphanet:95710 inherited primary ovarian failure MONDO:0017313 disorder of folate metabolism and transport MONDO:0017758 Orphanet:285657 Orphanet:309827 disorder of vitamin and non-protein cofactor absorption and transport MONDO:0017314 Ehlers-Danlos syndrome, vascular type MONDO:0020066 Orphanet:286 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0017315 short stature-webbed neck-heart disease syndrome MONDO:0015159 Orphanet:2865 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017318 phakomatosis pigmentovascularis MONDO:0019289 Orphanet:2875 Orphanet:79375 hyperpigmentation of the skin MONDO:0017320 phosphoenolpyruvate carboxykinase deficiency MONDO:0019225 Orphanet:2880 Orphanet:79177 disorder of gluconeogenesis MONDO:0017321 pili torti-onychodysplasia syndrome MONDO:0019287 Orphanet:2890 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0017323 hypocalcemic rickets MONDO:0017322 Orphanet:289103 Orphanet:289098 disorders of vitamin D metabolism MONDO:0017324 autosomal recessive hypophosphatemic rickets MONDO:0000044 Orphanet:289176 Orphanet:437 hereditary hypophosphatemic rickets MONDO:0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation MONDO:0020072 Orphanet:289266 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0017327 primary non-gestational choriocarcinoma of ovary MONDO:0018171 Orphanet:289356 Orphanet:35807 malignant germ cell tumor of ovary MONDO:0017328 non-central nervous system-localized embryonal carcinoma MONDO:0005440 Orphanet:289362 Orphanet:180226 embryonal carcinoma MONDO:0017334 12q15q21.1 microdeletion syndrome MONDO:0016877 Orphanet:289513 Orphanet:261821 partial deletion of the long arm of chromosome 12 MONDO:0017335 microtriplication 11q24.1 MONDO:0015159 Orphanet:289522 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017335 microtriplication 11q24.1 MONDO:0022173 Orphanet:289522 Orphanet:262923 chromosome 11q trisomy MONDO:0017338 fatal multiple mitochondrial dysfunctions syndrome MONDO:0018424 Orphanet:289573 Orphanet:401854 inherited lipoic acid biosynthesis defect MONDO:0017339 exfoliative ichthyosis MONDO:0017265 Orphanet:289586 Orphanet:281097 autosomal recessive congenital ichthyosis MONDO:0017342 Epstein-Barr virus-related tumor MONDO:0017341 Orphanet:289638 Orphanet:289635 virus associated tumor MONDO:0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0017342 Orphanet:289644 Orphanet:289638 Epstein-Barr virus-related tumor MONDO:0017344 Epstein-Barr virus-associated carcinoma MONDO:0017342 Orphanet:289651 Orphanet:289638 Epstein-Barr virus-related tumor MONDO:0017345 Epstein-Barr virus-associated mesenchymal tumor MONDO:0017342 Orphanet:289656 Orphanet:289638 Epstein-Barr virus-related tumor MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly MONDO:0017343 Orphanet:289661 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly MONDO:0018905 Orphanet:289661 Orphanet:544 diffuse large B-cell lymphoma MONDO:0017347 plasmablastic lymphoma MONDO:0017343 Orphanet:289666 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0017348 lymphoepithelial-like carcinoma MONDO:0017344 Orphanet:289682 Orphanet:289651 Epstein-Barr virus-associated carcinoma MONDO:0017349 myopericytoma MONDO:0017345 Orphanet:289685 Orphanet:289656 Epstein-Barr virus-associated mesenchymal tumor MONDO:0017350 inborn disorder of tryptophan metabolism MONDO:0019189 Orphanet:289829 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0017352 disorder of glutamine metabolism MONDO:0019189 Orphanet:289841 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0017353 neonatal glycine encephalopathy MONDO:0011612 Orphanet:289857 Orphanet:407 glycine encephalopathy MONDO:0017354 infantile glycine encephalopathy MONDO:0011612 Orphanet:289860 Orphanet:407 glycine encephalopathy MONDO:0017355 inborn disorder of proline metabolism MONDO:0019230 Orphanet:289866 Orphanet:79185 inborn disorder of ornithine or proline metabolism MONDO:0017356 inborn disorder of ornithine metabolism MONDO:0019230 Orphanet:289869 Orphanet:79185 inborn disorder of ornithine or proline metabolism MONDO:0017359 3-methylglutaconic aciduria MONDO:0019215 Orphanet:289902 Orphanet:79163 classic organic aciduria MONDO:0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 MONDO:0009612 Orphanet:289916 Orphanet:27 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0017361 congenital rubella syndrome MONDO:0016511 Orphanet:290 Orphanet:232035 infectious embryofetopathy MONDO:0017362 neuralgic amyotrophy MONDO:0015923 Orphanet:2901 Orphanet:182086 acquired peripheral neuropathy MONDO:0017363 idiopathic chronic eosinophilic pneumonia MONDO:0015927 Orphanet:2902 Orphanet:182101 idiopathic eosinophilic pneumonia MONDO:0017372 congenital varicella syndrome MONDO:0016511 Orphanet:291 Orphanet:232035 infectious embryofetopathy MONDO:0017373 poliomyelitis MONDO:0020129 Orphanet:2912 Orphanet:98506 acquired motor neuron disease MONDO:0017375 congenital enterovirus infection MONDO:0016511 Orphanet:292 Orphanet:232035 infectious embryofetopathy MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome MONDO:0015159 Orphanet:2921 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017380 juvenile polyposis syndrome MONDO:0015185 Orphanet:2929 Orphanet:104010 intestinal polyposis syndrome MONDO:0017384 acute generalized exanthematous pustulosis MONDO:0017396 Orphanet:293173 Orphanet:293815 toxic dermatosis MONDO:0017385 malignant migrating partial seizures of infancy MONDO:0020070 Orphanet:293181 Orphanet:98257 neonatal epilepsy syndrome MONDO:0017386 pleomorphic rhabdomyosarcoma MONDO:0005212 Orphanet:293199 Orphanet:780 rhabdomyosarcoma MONDO:0017387 epithelioid sarcoma MONDO:0018078 Orphanet:293202 Orphanet:3394 soft tissue sarcoma MONDO:0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria MONDO:0009861 Orphanet:293284 Orphanet:716 phenylketonuria MONDO:0017391 Grayson-Wilbrandt corneal dystrophy MONDO:0020212 Orphanet:293375 Orphanet:98625 superficial corneal dystrophy MONDO:0017392 pre-descemet corneal dystrophy MONDO:0020213 Orphanet:293462 Orphanet:98626 stromal corneal dystrophy MONDO:0017393 blepharophimosis - intellectual disability syndrome MONDO:0015159 Orphanet:293642 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017395 fixed pigmented erythema MONDO:0017396 Orphanet:293812 Orphanet:293815 toxic dermatosis MONDO:0017398 3MC syndrome MONDO:0015159 Orphanet:293843 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form MONDO:0016342 Orphanet:293888 Orphanet:217656 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form MONDO:0016342 Orphanet:293899 Orphanet:217656 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form MONDO:0016342 Orphanet:293910 Orphanet:217656 familial isolated arrhythmogenic right ventricular dysplasia MONDO:0017405 1p21.3 microdeletion syndrome MONDO:0016883 Orphanet:293948 Orphanet:261857 partial deletion of the short arm of chromosome 1 MONDO:0017409 fetal cytomegalovirus syndrome MONDO:0016511 Orphanet:294 Orphanet:232035 infectious embryofetopathy MONDO:0017410 porencephaly MONDO:0017103 Orphanet:2940 Orphanet:269190 encephaloclastic disorder MONDO:0017415 multiple pterygium syndrome MONDO:0015225 Orphanet:294060 Orphanet:109007 arthrogryposis syndrome MONDO:0017435 popliteal pterygium syndrome MONDO:0015225 Orphanet:294963 Orphanet:109007 arthrogryposis syndrome MONDO:0017436 lethal congenital contracture syndrome MONDO:0015225 Orphanet:294965 Orphanet:109007 arthrogryposis syndrome MONDO:0017437 amelia of upper limb MONDO:0017419 Orphanet:294967 Orphanet:294925 non-syndromic amelia MONDO:0017438 amelia of lower limb MONDO:0017419 Orphanet:294969 Orphanet:294925 non-syndromic amelia MONDO:0017439 tetra-amelia MONDO:0017419 Orphanet:294971 Orphanet:294925 non-syndromic amelia MONDO:0017453 fetal parvovirus syndrome MONDO:0016511 Orphanet:295 Orphanet:232035 infectious embryofetopathy MONDO:0017460 syndactyly type 6 MONDO:0019530 Orphanet:295012 Orphanet:90025 non-syndromic syndactyly MONDO:0017462 congenital pseudoarthrosis of the tibia MONDO:0015525 Orphanet:295018 Orphanet:157808 congenital pseudoarthrosis of the limbs MONDO:0017463 congenital pseudoarthrosis of the femur MONDO:0015525 Orphanet:295020 Orphanet:157808 congenital pseudoarthrosis of the limbs MONDO:0017464 congenital pseudoarthrosis of the fibula MONDO:0015525 Orphanet:295022 Orphanet:157808 congenital pseudoarthrosis of the limbs MONDO:0017465 congenital pseudoarthrosis of the radius MONDO:0015525 Orphanet:295024 Orphanet:157808 congenital pseudoarthrosis of the limbs MONDO:0017466 congenital pseudoarthrosis of the ulna MONDO:0015525 Orphanet:295026 Orphanet:157808 congenital pseudoarthrosis of the limbs MONDO:0017543 zygodactyly type 2 MONDO:0008512 Orphanet:295189 Orphanet:93402 syndactyly type 1 MONDO:0017544 zygodactyly type 3 MONDO:0008512 Orphanet:295191 Orphanet:93402 syndactyly type 1 MONDO:0017545 zygodactyly type 4 MONDO:0008512 Orphanet:295193 Orphanet:93402 syndactyly type 1 MONDO:0017546 congenital vertical talus, unilateral MONDO:0008652 Orphanet:295201 Orphanet:178382 congenital vertical talus MONDO:0017547 congenital vertical talus, bilateral MONDO:0008652 Orphanet:295203 Orphanet:178382 congenital vertical talus MONDO:0017558 congenital elbow dislocation, unilateral MONDO:0017469 Orphanet:295225 Orphanet:295032 congenital elbow dislocation MONDO:0017559 congenital elbow dislocation, bilateral MONDO:0017469 Orphanet:295227 Orphanet:295032 congenital elbow dislocation MONDO:0017560 congenital genu recurvatum MONDO:0017470 Orphanet:295229 Orphanet:295034 congenital knee dislocation MONDO:0017561 congenital genu flexum MONDO:0017470 Orphanet:295232 Orphanet:295034 congenital knee dislocation MONDO:0017564 macrodactyly of fingers, unilateral MONDO:0017474 Orphanet:295239 Orphanet:295044 macrodactyly of fingers MONDO:0017565 macrodactyly of fingers, bilateral MONDO:0017474 Orphanet:295241 Orphanet:295044 macrodactyly of fingers MONDO:0017566 macrodactyly of toes, unilateral MONDO:0017475 Orphanet:295243 Orphanet:295047 macrodactyly of toes MONDO:0017567 macrodactyly of toes, bilateral MONDO:0017475 Orphanet:295245 Orphanet:295047 macrodactyly of toes MONDO:0017569 de Barsy syndrome MONDO:0019303 Orphanet:2962 Orphanet:79389 premature aging syndrome MONDO:0017571 Proteus-like syndrome MONDO:0017623 Orphanet:2969 Orphanet:306498 PTEN hamartoma tumor syndrome MONDO:0017572 tick-borne encephalitis MONDO:0006009 Orphanet:297 Orphanet:98252 viral encephalitis MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0009637 Orphanet:298 Orphanet:206966 inborn mitochondrial myopathy MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0019238 Orphanet:298 Orphanet:79193 inborn disorder of pyrimidine metabolism MONDO:0017576 46,XX disorder of sex development MONDO:0002145 Orphanet:2982 Orphanet:90771 disorder of sexual differentiation MONDO:0017578 disorder of thiamine metabolism and transport MONDO:0017758 Orphanet:298644 Orphanet:309827 disorder of vitamin and non-protein cofactor absorption and transport MONDO:0017580 11p15.4 microduplication syndrome MONDO:0015159 Orphanet:300305 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017580 11p15.4 microduplication syndrome MONDO:0016948 Orphanet:300305 Orphanet:262785 partial duplication of the short arm of chromosome 11 MONDO:0017580 11p15.4 microduplication syndrome MONDO:0019716 Orphanet:300305 Orphanet:93460 overgrowth syndrome MONDO:0017585 painful orbital and systemic neurofibromas-marfanoid habitus syndrome MONDO:0016752 Orphanet:300501 Orphanet:252131 benign peripheral nerve sheath tumor MONDO:0017586 onychocytic matricoma MONDO:0017588 Orphanet:300504 Orphanet:300515 nail tumor MONDO:0017587 onychomatricoma MONDO:0017588 Orphanet:300512 Orphanet:300515 nail tumor MONDO:0017591 combined pulmonary fibrosis-emphysema syndrome MONDO:0002429 Orphanet:300564 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0017594 indolent B-cell non-Hodgkin lymphoma MONDO:0015759 Orphanet:300842 Orphanet:171915 B-cell non-Hodgkin lymphoma MONDO:0017595 aggressive B-cell non-Hodgkin lymphoma MONDO:0015759 Orphanet:300846 Orphanet:171915 B-cell non-Hodgkin lymphoma MONDO:0017596 diffuse large B-cell lymphoma of the central nervous system MONDO:0018905 Orphanet:300849 Orphanet:544 diffuse large B-cell lymphoma MONDO:0017597 T-cell/histiocyte rich large B cell lymphoma MONDO:0018905 Orphanet:300857 Orphanet:544 diffuse large B-cell lymphoma MONDO:0017598 primary cutaneous anaplastic large cell lymphoma MONDO:0018897 Orphanet:300865 Orphanet:541 primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO:0017599 splenic diffuse red pulp small B-cell lymphoma MONDO:0017604 Orphanet:300869 Orphanet:300912 marginal zone lymphoma MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation MONDO:0017343 Orphanet:300888 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0017601 diffuse large B-cell lymphoma with chronic inflammation MONDO:0018905 Orphanet:300888 Orphanet:544 diffuse large B-cell lymphoma MONDO:0017602 ALK-positive anaplastic large cell lymphoma MONDO:0020325 Orphanet:300895 Orphanet:98841 anaplastic large cell lymphoma MONDO:0017603 ALK-negative anaplastic large cell lymphoma MONDO:0020325 Orphanet:300903 Orphanet:98841 anaplastic large cell lymphoma MONDO:0017604 marginal zone lymphoma MONDO:0017594 Orphanet:300912 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma MONDO:0017610 epidermolysis bullosa simplex MONDO:0019276 Orphanet:304 Orphanet:79361 inherited epidermolysis bullosa MONDO:0017612 junctional epidermolysis bullosa MONDO:0019276 Orphanet:305 Orphanet:79361 inherited epidermolysis bullosa MONDO:0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome MONDO:0015159 Orphanet:3055 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017615 benign familial infantile epilepsy MONDO:0015642 Orphanet:306 Orphanet:166311 benign partial infantile seizures MONDO:0017617 acquired adult-onset immunodeficiency MONDO:0017769 Orphanet:306431 Orphanet:310050 acquired immunodeficiency MONDO:0017630 X-linked complicated spastic paraplegia type 1 MONDO:0017140 Orphanet:306617 Orphanet:275543 L1 syndrome MONDO:0017634 non-infectious anterior uveitis MONDO:0006651 Orphanet:306648 Orphanet:280886 anterior uveitis MONDO:0017659 sporadic hyperekplexia MONDO:0017658 Orphanet:306776 Orphanet:306773 hyperekplexia MONDO:0017666 diffuse palmoplantar keratoderma MONDO:0019272 Orphanet:307141 Orphanet:79357 hereditary palmoplantar keratoderma MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome MONDO:0015159 Orphanet:3074 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017672 focal palmoplantar keratoderma MONDO:0019272 Orphanet:307837 Orphanet:79357 hereditary palmoplantar keratoderma MONDO:0017675 punctate palmoplantar keratoderma MONDO:0019272 Orphanet:307967 Orphanet:79357 hereditary palmoplantar keratoderma MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome MONDO:0015159 Orphanet:3082 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017683 methylcobalamin deficiency type cblDv1 MONDO:0018964 Orphanet:308380 Orphanet:622 homocystinuria without methylmalonic aciduria MONDO:0017684 disorder of beta and omega amino acid metabolism MONDO:0019189 Orphanet:308407 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 MONDO:0017214 Orphanet:308442 Orphanet:28 vitamin B12-responsive methylmalonic acidemia MONDO:0017687 disorder of neutral amino acid transport MONDO:0019216 Orphanet:308451 Orphanet:79166 inborn disorder of amino acid transport MONDO:0017688 disorder of glycolysis MONDO:0019214 Orphanet:308459 Orphanet:79161 inborn carbohydrate metabolic disorder MONDO:0017689 disorder of fructose metabolism MONDO:0019214 Orphanet:308463 Orphanet:79161 inborn carbohydrate metabolic disorder MONDO:0017690 disorder of galactose metabolism MONDO:0019214 Orphanet:308467 Orphanet:79161 inborn carbohydrate metabolic disorder MONDO:0017691 erythrocyte galactose epimerase deficiency MONDO:0009257 Orphanet:308473 Orphanet:79238 galactose epimerase deficiency MONDO:0017692 generalized galactose epimerase deficiency MONDO:0009257 Orphanet:308487 Orphanet:79238 galactose epimerase deficiency MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset MONDO:0009290 Orphanet:308552 Orphanet:365 glycogen storage disease II MONDO:0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form MONDO:0009292 Orphanet:308621 Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form MONDO:0009292 Orphanet:308638 Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form MONDO:0009292 Orphanet:308655 Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form MONDO:0009292 Orphanet:308670 Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form MONDO:0009292 Orphanet:308684 Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form MONDO:0009292 Orphanet:308698 Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form MONDO:0009292 Orphanet:308712 Orphanet:367 glycogen storage disease due to glycogen branching enzyme deficiency MONDO:0017704 familial partial epilepsy MONDO:0020072 Orphanet:309 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0017705 congenital pulmonary venous return anomaly MONDO:0020295 Orphanet:3090 Orphanet:98729 congenital pulmonary veins anomaly MONDO:0017706 disorder of carbohydrate transmembrane transport and absorption MONDO:0019214 Orphanet:309001 Orphanet:79161 inborn carbohydrate metabolic disorder MONDO:0017708 mevalonate kinase deficiency MONDO:0017953 Orphanet:309025 Orphanet:324924 hereditary periodic fever syndrome MONDO:0017708 mevalonate kinase deficiency MONDO:0019240 Orphanet:309025 Orphanet:79195 sterol biosynthesis disorder MONDO:0017713 disorder of fatty acid oxidation and ketogenesis MONDO:0019223 Orphanet:309115 Orphanet:79174 disorder of fatty acid and ketone body metabolism MONDO:0017714 acyl-CoA dehydrogenase deficiency MONDO:0017713 Orphanet:309120 Orphanet:309115 disorder of fatty acid oxidation and ketogenesis MONDO:0017715 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0017713 Orphanet:309127 Orphanet:309115 disorder of fatty acid oxidation and ketogenesis MONDO:0017716 disorder of carnitine cycle and carnitine transport MONDO:0019223 Orphanet:309130 Orphanet:79174 disorder of fatty acid and ketone body metabolism MONDO:0017719 gangliosidosis MONDO:0019255 Orphanet:309144 Orphanet:79225 sphingolipidosis MONDO:0017720 GM2 gangliosidosis MONDO:0017719 Orphanet:309152 Orphanet:309144 gangliosidosis MONDO:0017720 GM2 gangliosidosis MONDO:0024237 Orphanet:309152 Orphanet:183500 inherited neurodegenerative disorder MONDO:0017721 Sandhoff disease, infantile form MONDO:0010006 Orphanet:309155 Orphanet:796 Sandhoff disease MONDO:0017722 Sandhoff disease, juvenile form MONDO:0010006 Orphanet:309162 Orphanet:796 Sandhoff disease MONDO:0017723 Sandhoff disease, adult form MONDO:0010006 Orphanet:309169 Orphanet:796 Sandhoff disease MONDO:0017724 Tay-Sachs disease, b variant, infantile form MONDO:0010100 Orphanet:309178 Orphanet:845 Tay-Sachs disease MONDO:0017725 Tay-Sachs disease, b variant, juvenile form MONDO:0010100 Orphanet:309185 Orphanet:845 Tay-Sachs disease MONDO:0017726 Tay-Sachs disease, B variant, adult form MONDO:0010100 Orphanet:309192 Orphanet:845 Tay-Sachs disease MONDO:0017731 glycoproteinosis MONDO:0002561 Orphanet:309279 Orphanet:68366 lysosomal storage disease MONDO:0017732 alpha-mannosidosis, infantile form MONDO:0009561 Orphanet:309282 Orphanet:61 alpha-mannosidosis MONDO:0017733 alpha-mannosidosis, adult form MONDO:0009561 Orphanet:309288 Orphanet:61 alpha-mannosidosis MONDO:0017734 sialidosis MONDO:0019251 Orphanet:309294 Orphanet:79215 oligosaccharidosis MONDO:0017736 disorder of sialic acid metabolism MONDO:0002561 Orphanet:309319 Orphanet:68366 lysosomal storage disease MONDO:0017737 intermediate severe Salla disease MONDO:0019366 Orphanet:309331 Orphanet:834 free sialic acid storage disease MONDO:0017738 lysosomal glycogen storage disease MONDO:0002561 Orphanet:309337 Orphanet:68366 lysosomal storage disease MONDO:0017739 disorder of lysosomal-related organelles MONDO:0019052 Orphanet:309340 Orphanet:68367 inborn errors of metabolism MONDO:0017740 disorder of protein N-glycosylation MONDO:0015286 Orphanet:309347 Orphanet:137 congenital disorder of glycosylation MONDO:0017741 disorder of protein O-glycosylation MONDO:0015286 Orphanet:309447 Orphanet:137 congenital disorder of glycosylation MONDO:0017747 disorder of fucoglycosan synthesis MONDO:0017741 Orphanet:309505 Orphanet:309447 disorder of protein O-glycosylation MONDO:0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0015286 Orphanet:309515 Orphanet:137 congenital disorder of glycosylation MONDO:0017749 disorder of multiple glycosylation MONDO:0015286 Orphanet:309526 Orphanet:137 congenital disorder of glycosylation MONDO:0017750 defect in conserved oligomeric Golgi complex MONDO:0017749 Orphanet:309568 Orphanet:309526 disorder of multiple glycosylation MONDO:0017752 defect in V-ATPase MONDO:0017749 Orphanet:309778 Orphanet:309526 disorder of multiple glycosylation MONDO:0017754 inborn disorder of porphyrin metabolism MONDO:0019052 Orphanet:309813 Orphanet:68367 inborn errors of metabolism MONDO:0017755 inborn disorder of bilirubin metabolism MONDO:0017754 Orphanet:309816 Orphanet:309813 inborn disorder of porphyrin metabolism MONDO:0017757 disorder of metabolite absorption and transport MONDO:0019052 Orphanet:309824 Orphanet:68367 inborn errors of metabolism MONDO:0017758 disorder of vitamin and non-protein cofactor absorption and transport MONDO:0017757 Orphanet:309827 Orphanet:309824 disorder of metabolite absorption and transport MONDO:0017759 disorder of catecholamine synthesis MONDO:0019219 Orphanet:309830 Orphanet:79169 inborn disorder of neurotransmitter metabolism and transport MONDO:0017761 disorder of mineral absorption and transport MONDO:0017757 Orphanet:309836 Orphanet:309824 disorder of metabolite absorption and transport MONDO:0017762 disorder of copper metabolism MONDO:0017761 Orphanet:309839 Orphanet:309836 disorder of mineral absorption and transport MONDO:0017763 disorder of iron metabolism and transport MONDO:0017761 Orphanet:309842 Orphanet:309836 disorder of mineral absorption and transport MONDO:0017764 disorder of zinc metabolism MONDO:0017761 Orphanet:309845 Orphanet:309836 disorder of mineral absorption and transport MONDO:0017765 disorder of magnesium transport MONDO:0017761 Orphanet:309848 Orphanet:309836 disorder of mineral absorption and transport MONDO:0017766 disorder of manganese transport MONDO:0017761 Orphanet:309851 Orphanet:309836 disorder of mineral absorption and transport MONDO:0017771 Mayer-Rokitansky-Kuster-Hauser syndrome MONDO:0015830 Orphanet:3109 Orphanet:180068 partial bilateral aplasia of the mullerian ducts MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO:0019251 Orphanet:3137 Orphanet:79215 oligosaccharidosis MONDO:0017780 20p13 microdeletion syndrome MONDO:0015159 Orphanet:313781 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017780 20p13 microdeletion syndrome MONDO:0016898 Orphanet:313781 Orphanet:261992 partial monosomy of the short arm of chromosome 20 MONDO:0017781 12p12.1 microdeletion syndrome MONDO:0022174 Orphanet:313884 Orphanet:316244 chromosome 12p deletion MONDO:0017784 Epstein-Barr virus-associated gastric carcinoma MONDO:0017344 Orphanet:313920 Orphanet:289651 Epstein-Barr virus-associated carcinoma MONDO:0017786 2q23.1 microduplication syndrome MONDO:0016953 Orphanet:313947 Orphanet:262842 partial duplication of the long arm of chromosome 2 MONDO:0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome MONDO:0015161 Orphanet:314002 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0017790 gastric adenocarcinoma and proximal polyposis of the stomach MONDO:0018502 Orphanet:314022 Orphanet:423776 hereditary gastric cancer MONDO:0017792 7p22.1 microduplication syndrome MONDO:0015159 Orphanet:314034 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017792 7p22.1 microduplication syndrome MONDO:0016944 Orphanet:314034 Orphanet:262749 partial duplication of the short arm of chromosome 7 MONDO:0017794 Xq12-q13.3 duplication syndrome MONDO:0017010 Orphanet:314389 Orphanet:263783 partial duplication of the long arm of chromosome X MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO:0015159 Orphanet:314575 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017806 15q overgrowth syndrome MONDO:0015159 Orphanet:314585 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017806 15q overgrowth syndrome MONDO:0016965 Orphanet:314585 Orphanet:262950 partial duplication of the long arm of chromosome 15 MONDO:0017810 variant ABeta2M amyloidosis MONDO:0018590 Orphanet:314652 Orphanet:439246 ABeta2M amyloidosis MONDO:0017810 variant ABeta2M amyloidosis MONDO:0018634 Orphanet:314652 Orphanet:444116 hereditary amyloidosis MONDO:0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion MONDO:0016904 Orphanet:314655 Orphanet:262038 partial deletion of the long arm of chromosome 5 MONDO:0017813 van Maldergem syndrome MONDO:0015159 Orphanet:314679 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017814 primary bone lymphoma MONDO:0017207 Orphanet:314684 Orphanet:279911 primary organ-specific lymphoma MONDO:0017815 acquired porencephaly MONDO:0017410 Orphanet:314697 Orphanet:2940 porencephaly MONDO:0017816 primary systemic amyloidosis MONDO:0019438 Orphanet:314701 Orphanet:85443 AL amyloidosis MONDO:0017817 primary localized amyloidosis MONDO:0019438 Orphanet:314709 Orphanet:85443 AL amyloidosis MONDO:0017822 mixed functioning pituitary adenoma MONDO:0003429 Orphanet:314759 Orphanet:314753 functioning pituitary gland adenoma MONDO:0017823 somatomammotropinoma MONDO:0017822 Orphanet:314769 Orphanet:314759 mixed functioning pituitary adenoma MONDO:0017824 familial isolated pituitary adenoma MONDO:0006373 Orphanet:314777 Orphanet:99408 pituitary gland adenoma MONDO:0017825 silent pituitary adenoma MONDO:0019613 Orphanet:314786 Orphanet:91349 non-functioning pituitary adenoma MONDO:0017826 null pituitary adenoma MONDO:0019613 Orphanet:314790 Orphanet:91349 non-functioning pituitary adenoma MONDO:0017827 malignant peripheral nerve sheath tumor MONDO:0016749 Orphanet:3148 Orphanet:252057 tumor of cranial and spinal nerves MONDO:0017829 autosomal dominant proximal renal tubular acidosis MONDO:0008369 Orphanet:314889 Orphanet:47159 proximal renal tubular acidosis MONDO:0017830 severe Canavan disease MONDO:0010079 Orphanet:314911 Orphanet:141 Canavan disease MONDO:0017831 mild Canavan disease MONDO:0010079 Orphanet:314918 Orphanet:141 Canavan disease MONDO:0017833 primary hypereosinophilic syndrome MONDO:0015691 Orphanet:314950 Orphanet:168956 hypereosinophilic syndrome MONDO:0017834 secondary hypereosinophilic syndrome MONDO:0015691 Orphanet:314962 Orphanet:168956 hypereosinophilic syndrome MONDO:0017835 lymphocytic hypereosinophilic syndrome MONDO:0017834 Orphanet:314970 Orphanet:314962 secondary hypereosinophilic syndrome MONDO:0017836 erythrokeratoderma en cocardes MONDO:0019270 Orphanet:315 Orphanet:79355 erythrokeratoderma MONDO:0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form MONDO:0008728 Orphanet:315306 Orphanet:90794 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form MONDO:0008728 Orphanet:315311 Orphanet:90794 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO:0017845 spastic ataxia MONDO:0100309 Orphanet:316226 Orphanet:183518 hereditary ataxia MONDO:0017846 autosomal dominant spastic ataxia MONDO:0017845 Orphanet:316235 Orphanet:316226 spastic ataxia MONDO:0017847 autosomal recessive spastic ataxia MONDO:0017845 Orphanet:316240 Orphanet:316226 spastic ataxia MONDO:0017851 erythrokeratodermia variabilis MONDO:0019270 Orphanet:308166 Orphanet:79355 erythrokeratoderma MONDO:0017855 T-B- severe combined immunodeficiency MONDO:0015974 Orphanet:317419 Orphanet:183660 severe combined immunodeficiency MONDO:0017858 acute erythroid leukemia MONDO:0015667 Orphanet:318 Orphanet:167714 acute myeloid leukemia by FAB classification MONDO:0017866 subpulmonary stenosis MONDO:0017865 Orphanet:3190 Orphanet:3189 congenital pulmonary valve stenosis MONDO:0017867 distal 17p13.1 microdeletion syndrome MONDO:0015159 Orphanet:319171 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017869 chondroectodermal dysplasia with night blindness MONDO:0019287 Orphanet:319195 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0017870 supravalvular pulmonary stenosis MONDO:0017865 Orphanet:3192 Orphanet:3189 congenital pulmonary valve stenosis MONDO:0017871 bilateral massive adrenal hemorrhage MONDO:0019801 Orphanet:319205 Orphanet:95409 acute adrenal insufficiency MONDO:0017872 Lujo hemorrhagic fever MONDO:0018087 Orphanet:319213 Orphanet:341 viral hemorrhagic fever MONDO:0017875 Bolivian hemorrhagic fever MONDO:0018087 Orphanet:319229 Orphanet:341 viral hemorrhagic fever MONDO:0017876 Venezuelan hemorrhagic fever MONDO:0018087 Orphanet:319234 Orphanet:341 viral hemorrhagic fever MONDO:0017877 Brazilian hemorrhagic fever MONDO:0018087 Orphanet:319239 Orphanet:341 viral hemorrhagic fever MONDO:0017878 Chapare hemorrhagic fever MONDO:0018087 Orphanet:319244 Orphanet:341 viral hemorrhagic fever MONDO:0017879 hantavirus pulmonary syndrome MONDO:0018087 Orphanet:319247 Orphanet:341 viral hemorrhagic fever MONDO:0017880 Rift valley fever MONDO:0018087 Orphanet:319251 Orphanet:341 viral hemorrhagic fever MONDO:0017881 Kyasanur forest disease MONDO:0018087 Orphanet:319254 Orphanet:341 viral hemorrhagic fever MONDO:0017882 Omsk hemorrhagic fever MONDO:0018087 Orphanet:319266 Orphanet:341 viral hemorrhagic fever MONDO:0017886 MIT family translocation renal cell carcinoma MONDO:0005086 Orphanet:319308 Orphanet:217071 renal cell carcinoma MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita MONDO:0015168 Orphanet:319332 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita MONDO:0019950 Orphanet:319332 Orphanet:97242 congenital muscular dystrophy MONDO:0017893 inherited acute myeloid leukemia MONDO:0018874 Orphanet:319465 Orphanet:519 acute myeloid leukemia MONDO:0017895 familial papillary or follicular thyroid carcinoma MONDO:0017896 Orphanet:319487 Orphanet:319494 familial nonmedullary thyroid carcinoma MONDO:0017896 familial nonmedullary thyroid carcinoma MONDO:0015075 Orphanet:319494 Orphanet:100088 thyroid gland carcinoma MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases MONDO:0019146 Orphanet:319605 Orphanet:748 inherited susceptibility to mycobacterial diseases MONDO:0017906 amyloidosis cutis dyschromia MONDO:0015301 Orphanet:319635 Orphanet:137807 primary cutaneous amyloidosis MONDO:0017907 primary lymphoma of the conjunctiva MONDO:0017207 Orphanet:319667 Orphanet:279911 primary organ-specific lymphoma MONDO:0017910 dehydrated hereditary stomatocytosis MONDO:0020102 Orphanet:3202 Orphanet:98365 hereditary stomatocytosis MONDO:0017913 pure or complex hereditary spastic paraplegia MONDO:0019064 Orphanet:320335 Orphanet:685 hereditary spastic paraplegia MONDO:0017917 maternally-inherited spastic paraplegia MONDO:0015150 Orphanet:320360 Orphanet:102013 complex hereditary spastic paraplegia MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome MONDO:0015159 Orphanet:3224 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017927 severe lateral tibial bowing with short stature MONDO:0019698 Orphanet:324307 Orphanet:93439 bent bone dysplasia MONDO:0017931 hereditary inclusion body myopathy type 4 MONDO:0016112 Orphanet:324381 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome MONDO:0015159 Orphanet:324416 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO:0015159 Orphanet:324540 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017935 hyperinsulinism due to HNF1A deficiency MONDO:0015624 Orphanet:324575 Orphanet:165985 diazoxide-sensitive diffuse hyperinsulinism MONDO:0017936 benign Samaritan congenital myopathy MONDO:0019952 Orphanet:324581 Orphanet:97245 congenital myopathy MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain MONDO:0019548 Orphanet:324585 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0017939 classic multiminicore myopathy MONDO:0018948 Orphanet:324604 Orphanet:598 multiminicore myopathy MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation MONDO:0018993 Orphanet:324611 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0017944 invasive non-typhoidal salmonellosis MONDO:0000827 Orphanet:324648 Orphanet:795 salmonellosis MONDO:0017951 trichorhinophalangeal syndrome MONDO:0019287 Orphanet:324764 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0017951 trichorhinophalangeal syndrome MONDO:0019695 Orphanet:324764 Orphanet:93436 acromelic dysplasia MONDO:0017953 hereditary periodic fever syndrome MONDO:0015137 Orphanet:324924 Orphanet:101995 periodic fever syndrome MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0008725 Orphanet:325524 Orphanet:90790 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0008725 Orphanet:325529 Orphanet:90790 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0017975 sex chromosome disorder of sex development MONDO:0002145 Orphanet:325546 Orphanet:90771 disorder of sexual differentiation MONDO:0017991 Takayasu arteritis MONDO:0015236 Orphanet:99079 Orphanet:1132 aortic arch defects MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0015159 Orphanet:3293 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017998 PLA2G6-associated neurodegeneration MONDO:0018307 Orphanet:329303 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0018307 Orphanet:329308 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0009637 Orphanet:329336 Orphanet:206966 inborn mitochondrial myopathy MONDO:0018004 acute megakaryoblastic leukemia without down syndrome MONDO:0018872 Orphanet:329469 Orphanet:518 acute megakaryoblastic leukemia MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome MONDO:0015087 Orphanet:329475 Orphanet:100979 autosomal dominant complex spastic paraplegia MONDO:0018006 adult-onset distal myopathy due to VCP mutation MONDO:0016108 Orphanet:329478 Orphanet:206650 autosomal dominant distal myopathy MONDO:0018010 juvenile idiopathic inflammatory myopathy MONDO:0020122 Orphanet:329888 Orphanet:98482 acquired idiopathic inflammatory myopathy MONDO:0018011 juvenile overlap myositis MONDO:0018010 Orphanet:329894 Orphanet:329888 juvenile idiopathic inflammatory myopathy MONDO:0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis MONDO:0018904 Orphanet:329918 Orphanet:54370 primary membranoproliferative glomerulonephritis MONDO:0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency MONDO:0017714 Orphanet:329942 Orphanet:309120 acyl-CoA dehydrogenase deficiency MONDO:0018016 classic neuroendocrine tumor of appendix MONDO:0015066 Orphanet:329977 Orphanet:100079 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0018017 goblet cell carcinoma MONDO:0015066 Orphanet:329984 Orphanet:100079 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade MONDO:0018018 wild type ATTR amyloidosis MONDO:0016345 Orphanet:330001 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0018018 wild type ATTR amyloidosis MONDO:0019065 Orphanet:330001 Orphanet:69 amyloidosis MONDO:0018026 tetraploidy syndrome MONDO:0019934 Orphanet:3305 Orphanet:96321 polyploidy MONDO:0018028 tetrasomy 5p MONDO:0016942 Orphanet:3309 Orphanet:262725 partial trisomy/tetrasomy of the short arm of chromosome 5 MONDO:0018034 thalidomide embryopathy MONDO:0016677 Orphanet:3312 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0018043 Thomas syndrome MONDO:0015161 Orphanet:3316 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0018053 trichothiodystrophy MONDO:0019287 Orphanet:33364 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0018055 pediatric hepatocellular carcinoma MONDO:0007256 Orphanet:33402 Orphanet:88673 hepatocellular carcinoma MONDO:0018061 trichodermodysplasia-dental alterations syndrome MONDO:0019287 Orphanet:3353 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0018063 nodular non-suppurative panniculitis MONDO:0019296 Orphanet:33577 Orphanet:79382 subcutaneous tissue disorder MONDO:0018064 trigonocephaly-broad thumbs syndrome MONDO:0015338 Orphanet:3365 Orphanet:139393 syndromic craniosynostosis MONDO:0018066 trisomy X MONDO:0019852 Orphanet:3375 Orphanet:95710 inherited primary ovarian failure MONDO:0018067 triploidy MONDO:0019934 Orphanet:3376 Orphanet:96321 polyploidy MONDO:0018069 distal trisomy 17q MONDO:0016967 Orphanet:3379 Orphanet:262968 partial duplication of the long arm of chromosome 17 MONDO:0018072 persistent truncus arteriosus MONDO:0016581 Orphanet:3384 Orphanet:2445 conotruncal heart malformations MONDO:0018079 thymic epithelial neoplasm MONDO:0005197 Orphanet:3398 Orphanet:100100 thymus neoplasm MONDO:0018081 hemorrhagic fever-renal syndrome MONDO:0018087 Orphanet:340 Orphanet:341 viral hemorrhagic fever MONDO:0018086 ulerythema ophryogenesis MONDO:0018855 Orphanet:3406 Orphanet:498 keratosis pilaris atrophicans MONDO:0018088 familial Mediterranean fever MONDO:0017953 Orphanet:342 Orphanet:324924 hereditary periodic fever syndrome MONDO:0018089 double outlet right ventricle MONDO:0016581 Orphanet:3426 Orphanet:2445 conotruncal heart malformations MONDO:0018090 double outlet left ventricle MONDO:0016581 Orphanet:3427 Orphanet:2445 conotruncal heart malformations MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0015159 Orphanet:3433 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0017255 Orphanet:3437 Orphanet:280898 panuveitis MONDO:0018094 Waardenburg syndrome MONDO:0015161 Orphanet:3440 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0018095 Weaver-Williams syndrome MONDO:0015159 Orphanet:3448 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018096 Weill-Marchesani syndrome MONDO:0015161 Orphanet:3449 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0018096 Weill-Marchesani syndrome MONDO:0019695 Orphanet:3449 Orphanet:93436 acromelic dysplasia MONDO:0018103 Quinquaud's folliculitis decalvans MONDO:0004907 Orphanet:346 Orphanet:79364 alopecia MONDO:0018106 hereditary xanthinuria MONDO:0019236 Orphanet:3467 Orphanet:79191 inborn disorder of purine metabolism MONDO:0018116 galactosemia MONDO:0017690 Orphanet:352 Orphanet:308467 disorder of galactose metabolism MONDO:0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis MONDO:0002525 Orphanet:352301 Orphanet:309005 inherited lipid metabolism disorder MONDO:0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation MONDO:0015653 Orphanet:352587 Orphanet:166472 monogenic epilepsy MONDO:0018126 progressive myoclonic epilepsy with dystonia MONDO:0020071 Orphanet:352596 Orphanet:98258 infantile epilepsy syndrome MONDO:0018127 16q24.1 microdeletion syndrome MONDO:0016914 Orphanet:352629 Orphanet:262128 partial deletion of the long arm of chromosome 16 MONDO:0018128 phalangeal microgeodic syndrome MONDO:0019707 Orphanet:352636 Orphanet:93449 primary osteolysis MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity MONDO:0019255 Orphanet:352641 Orphanet:79225 sphingolipidosis MONDO:0018129 autosomal recessive cerebellar ataxia with late-onset spasticity MONDO:0020044 Orphanet:352641 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia MONDO:0018130 brain dopamine-serotonin vesicular transport disease MONDO:0019219 Orphanet:352649 Orphanet:79169 inborn disorder of neurotransmitter metabolism and transport MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion MONDO:0016908 Orphanet:352665 Orphanet:262074 partial monosomy of the long arm of chromosome 9 MONDO:0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion MONDO:0018681 Orphanet:352665 Orphanet:453499 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0018133 attenuated Chédiak-Higashi syndrome MONDO:0024237 Orphanet:352723 Orphanet:183500 inherited neurodegenerative disorder MONDO:0018134 disorder of melanin metabolism MONDO:0019189 Orphanet:352728 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0018135 oculocutaneous albinism type 1 MONDO:0018910 Orphanet:352731 Orphanet:55 oculocutaneous albinism MONDO:0018136 minimal pigment oculocutaneous albinism type 1 MONDO:0018135 Orphanet:352734 Orphanet:352731 oculocutaneous albinism type 1 MONDO:0018137 temperature-sensitive oculocutaneous albinism type 1 MONDO:0018135 Orphanet:352737 Orphanet:352731 oculocutaneous albinism type 1 MONDO:0018141 pyruvate carboxylase deficiency, infantile form MONDO:0009949 Orphanet:353308 Orphanet:3008 pyruvate carboxylase deficiency disease MONDO:0018142 pyruvate carboxylase deficiency, severe neonatal type MONDO:0009949 Orphanet:353314 Orphanet:3008 pyruvate carboxylase deficiency disease MONDO:0018143 pyruvate carboxylase deficiency, benign type MONDO:0009949 Orphanet:353320 Orphanet:3008 pyruvate carboxylase deficiency disease MONDO:0018149 GM1 gangliosidosis MONDO:0017719 Orphanet:354 Orphanet:309144 gangliosidosis MONDO:0018150 Gaucher disease MONDO:0019255 Orphanet:355 Orphanet:79225 sphingolipidosis MONDO:0018153 Erdheim-Chester disease MONDO:0015531 Orphanet:35687 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0018156 3q26q27 microdeletion syndrome MONDO:0016902 Orphanet:356947 Orphanet:262019 partial deletion of the long arm of chromosome 3 MONDO:0018160 hereditary retinoblastoma MONDO:0008380 Orphanet:357027 Orphanet:790 retinoblastoma MONDO:0018160 hereditary retinoblastoma MONDO:0015356 Orphanet:357027 Orphanet:140162 hereditary neoplastic syndrome MONDO:0018161 non-hereditary retinoblastoma MONDO:0008380 Orphanet:357034 Orphanet:790 retinoblastoma MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0019573 Orphanet:357058 Orphanet:90350 autosomal recessive cutis laxa type 2 MONDO:0018164 arterial thoracic outlet syndrome MONDO:0005979 Orphanet:357107 Orphanet:97330 thoracic outlet syndrome MONDO:0018165 venous thoracic outlet syndrome MONDO:0005979 Orphanet:357131 Orphanet:97330 thoracic outlet syndrome MONDO:0018167 primary essential cutis verticis gyrata MONDO:0019033 Orphanet:357220 Orphanet:671 primary cutis verticis gyrata MONDO:0018168 primary non-essential cutis verticis gyrata MONDO:0019033 Orphanet:357225 Orphanet:671 primary cutis verticis gyrata MONDO:0018171 malignant germ cell tumor of ovary MONDO:0018202 Orphanet:35807 Orphanet:363582 gonadal germ cell tumor MONDO:0018171 malignant germ cell tumor of ovary MONDO:0018365 Orphanet:35807 Orphanet:398940 malignant non-epithelial tumor of ovary MONDO:0018172 malignant sex cord stromal tumor of ovary MONDO:0018365 Orphanet:35808 Orphanet:398940 malignant non-epithelial tumor of ovary MONDO:0018177 glioblastoma MONDO:0016680 Orphanet:360 Orphanet:251561 high grade astrocytic tumor MONDO:0018180 staphylococcal scarlet fever MONDO:0017592 Orphanet:36235 Orphanet:300579 staphylococcal toxemia MONDO:0018181 staphylococcal scalded skin syndrome MONDO:0017592 Orphanet:36236 Orphanet:300579 staphylococcal toxemia MONDO:0018182 bullous impetigo MONDO:0017592 Orphanet:36237 Orphanet:300579 staphylococcal toxemia MONDO:0018183 staphylococcal necrotizing pneumonia MONDO:0017592 Orphanet:36238 Orphanet:300579 staphylococcal toxemia MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome MONDO:0019216 Orphanet:363429 Orphanet:79166 inborn disorder of amino acid transport MONDO:0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome MONDO:0020044 Orphanet:363429 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0015962 Orphanet:363534 Orphanet:183592 inherited renal tubular disease MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO:0100512 Orphanet:363534 Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO:0019303 Orphanet:363618 Orphanet:79389 premature aging syndrome MONDO:0018204 20q11.2 microduplication syndrome MONDO:0015159 Orphanet:363659 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018204 20q11.2 microduplication syndrome MONDO:0016970 Orphanet:363659 Orphanet:262995 partial trisomy of the long arm of chromosome 20 MONDO:0018205 distal monosomy 1q MONDO:0022756 Orphanet:36367 Orphanet:262001 chromosome 1q deletion MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO:0016112 Orphanet:363677 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0018207 2p13.2 microdeletion syndrome MONDO:0015159 Orphanet:363680 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018207 2p13.2 microdeletion syndrome MONDO:0016884 Orphanet:363680 Orphanet:261866 partial deletion of the short arm of chromosome 2 MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion MONDO:0018975 Orphanet:363700 Orphanet:636 neurofibromatosis type 1 MONDO:0018209 Alexander disease type I MONDO:0008752 Orphanet:363717 Orphanet:58 Alexander disease MONDO:0018210 Alexander disease type II MONDO:0008752 Orphanet:363722 Orphanet:58 Alexander disease MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome MONDO:0012496 Orphanet:363958 Orphanet:96169 Koolen-de Vries syndrome MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome MONDO:0016915 Orphanet:363958 Orphanet:262137 partial deletion of the long arm of chromosome 17 MONDO:0018217 Koolen-de Vries syndrome due to a point mutation MONDO:0012496 Orphanet:363965 Orphanet:96169 Koolen-de Vries syndrome MONDO:0018218 autosomal recessive cerebral atrophy MONDO:0024237 Orphanet:363969 Orphanet:183500 inherited neurodegenerative disorder MONDO:0018221 immune hydrops fetalis MONDO:0015193 Orphanet:364013 Orphanet:1041 hydrops fetalis MONDO:0018223 systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood MONDO:0017343 Orphanet:364033 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0018224 hydroa vacciniforme-like lymphoma MONDO:0017343 Orphanet:364039 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0018225 ALK-positive large B-cell lymphoma MONDO:0018905 Orphanet:364043 Orphanet:544 diffuse large B-cell lymphoma MONDO:0018227 hypocomplementemic urticarial vasculitis MONDO:0015491 Orphanet:36412 Orphanet:156149 immune complex mediated vasculitis MONDO:0018229 Stevens-Johnson syndrome MONDO:0019810 Orphanet:36426 Orphanet:95455 toxic epidermal necrolysis MONDO:0018233 otopalatodigital syndrome spectrum disorder MONDO:0019690 Orphanet:364541 Orphanet:93425 filamin-related bone disorder MONDO:0018247 CADDS MONDO:0015327 Orphanet:369942 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0018247 CADDS MONDO:0019046 Orphanet:369942 Orphanet:68356 leukodystrophy MONDO:0018247 CADDS MONDO:0019053 Orphanet:369942 Orphanet:68373 peroxisomal disease MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO:0015159 Orphanet:369950 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO:0015159 Orphanet:370010 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018257 familial syringomyelia MONDO:0020508 Orphanet:370034 Orphanet:99856 primary syringomyelia MONDO:0018264 oculocutaneous albinism type 6 MONDO:0018910 Orphanet:370097 Orphanet:55 oculocutaneous albinism MONDO:0018268 Medich giant platelet syndrome MONDO:0020117 Orphanet:370127 Orphanet:98455 alpha granule disease MONDO:0018269 white platelet syndrome MONDO:0020117 Orphanet:370131 Orphanet:98455 alpha granule disease MONDO:0018270 extraskeletal Ewing sarcoma MONDO:0018078 Orphanet:370334 Orphanet:3394 soft tissue sarcoma MONDO:0018273 XYLT1-congenital disorder of glycosylation MONDO:0015159 Orphanet:370930 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018274 GM3 synthase deficiency MONDO:0017748 Orphanet:370933 Orphanet:309515 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation MONDO:0018276 muscular dystrophy-dystroglycanopathy MONDO:0019950 Orphanet:370953 Orphanet:97242 congenital muscular dystrophy MONDO:0018278 congenital muscular dystrophy with intellectual disability MONDO:0018276 Orphanet:370968 Orphanet:370953 muscular dystrophy-dystroglycanopathy MONDO:0018281 congenital muscular dystrophy with hyperlaxity MONDO:0019950 Orphanet:371007 Orphanet:97242 congenital muscular dystrophy MONDO:0018282 qualitative or quantitative defects of alpha-dystroglycan MONDO:0016139 Orphanet:371024 Orphanet:207049 qualitative or quantitative protein defects in neuromuscular diseases MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum MONDO:0019707 Orphanet:371428 Orphanet:93449 primary osteolysis MONDO:0018306 Griscelli syndrome MONDO:0017305 Orphanet:381 Orphanet:284811 syndromic oculocutaneous albinism MONDO:0018310 Langerhans cell histiocytosis MONDO:0020082 Orphanet:389 Orphanet:98289 dendritic cell tumor MONDO:0018311 acromelanosis MONDO:0019289 Orphanet:39 Orphanet:79375 hyperpigmentation of the skin MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression MONDO:0015653 Orphanet:391316 Orphanet:166472 monogenic epilepsy MONDO:0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression MONDO:0020071 Orphanet:391316 Orphanet:98258 infantile epilepsy syndrome MONDO:0018316 fatal post-viral neurodegenerative disorder MONDO:0024237 Orphanet:391343 Orphanet:183500 inherited neurodegenerative disorder MONDO:0018319 familial episodic pain syndrome MONDO:0020127 Orphanet:391384 Orphanet:98497 hereditary peripheral neuropathy MONDO:0018322 HSD10 disease, infantile type MONDO:0010327 Orphanet:391428 Orphanet:391417 HSD10 mitochondrial disease MONDO:0018323 HSD10 disease, neonatal type MONDO:0010327 Orphanet:391457 Orphanet:391417 HSD10 mitochondrial disease MONDO:0018324 adult-onset myasthenia gravis MONDO:0009688 Orphanet:391490 Orphanet:589 myasthenia gravis MONDO:0018325 juvenile myasthenia gravis MONDO:0009688 Orphanet:391497 Orphanet:589 myasthenia gravis MONDO:0018326 transient neonatal myasthenia gravis MONDO:0009688 Orphanet:391504 Orphanet:589 myasthenia gravis MONDO:0018326 transient neonatal myasthenia gravis MONDO:0018356 Orphanet:391504 Orphanet:398091 secondary neonatal autoimmune disease MONDO:0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type MONDO:0009282 Orphanet:394529 Orphanet:26791 multiple acyl-CoA dehydrogenase deficiency MONDO:0018333 multiple acyl-CoA dehydrogenase deficiency, mild type MONDO:0009282 Orphanet:394532 Orphanet:26791 multiple acyl-CoA dehydrogenase deficiency MONDO:0018338 activated PI3K-delta syndrome MONDO:0015977 Orphanet:397596 Orphanet:183669 agammaglobulinemia MONDO:0018341 3q27.3 microdeletion syndrome MONDO:0015159 Orphanet:397695 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy MONDO:0015369 Orphanet:397715 Orphanet:140874 Joubert syndrome and related disorders MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy MONDO:0015461 Orphanet:397715 Orphanet:1505 short rib-polydactyly syndrome MONDO:0018343 periodic paralysis with later-onset distal motor neuropathy MONDO:0000995 Orphanet:397750 Orphanet:371433 familial periodic paralysis MONDO:0018346 ferro-cerebro-cutaneous syndrome MONDO:0024237 Orphanet:397922 Orphanet:183500 inherited neurodegenerative disorder MONDO:0018349 MAN1B1-congenital disorder of glycosylation MONDO:0017740 Orphanet:397941 Orphanet:309347 disorder of protein N-glycosylation MONDO:0018355 SIM1-related Prader-Willi-like syndrome MONDO:0018354 Orphanet:398079 Orphanet:398073 Prader-Willi-like syndrome MONDO:0018357 neonatal antiphospholipid syndrome MONDO:0018356 Orphanet:398097 Orphanet:398091 secondary neonatal autoimmune disease MONDO:0018358 neonatal autoimmune hemolytic anemia MONDO:0018356 Orphanet:398109 Orphanet:398091 secondary neonatal autoimmune disease MONDO:0018359 neonatal dermatomyositis MONDO:0018356 Orphanet:398117 Orphanet:398091 secondary neonatal autoimmune disease MONDO:0018360 neonatal lupus erythematosus MONDO:0018356 Orphanet:398124 Orphanet:398091 secondary neonatal autoimmune disease MONDO:0018361 neonatal scleroderma MONDO:0018356 Orphanet:398127 Orphanet:398091 secondary neonatal autoimmune disease MONDO:0018363 focal facial dermal dysplasia MONDO:0019287 Orphanet:398166 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0018364 malignant epithelial tumor of ovary MONDO:0008170 Orphanet:398934 Orphanet:213500 ovarian cancer MONDO:0018365 malignant non-epithelial tumor of ovary MONDO:0008170 Orphanet:398940 Orphanet:213500 ovarian cancer MONDO:0018370 KLHL9-related early-onset distal myopathy MONDO:0016108 Orphanet:399081 Orphanet:206650 autosomal dominant distal myopathy MONDO:0018373 avascular necrosis MONDO:0005380 Orphanet:399164 Orphanet:399158 osteonecrosis MONDO:0018374 secondary avascular necrosis MONDO:0018373 Orphanet:399169 Orphanet:399164 avascular necrosis MONDO:0018375 traumatic avascular necrosis MONDO:0018374 Orphanet:399175 Orphanet:399169 secondary avascular necrosis MONDO:0018376 secondary non-traumatic avascular necrosis MONDO:0018374 Orphanet:399180 Orphanet:399169 secondary avascular necrosis MONDO:0018378 osteonecrosis of the jaw MONDO:0018374 Orphanet:399293 Orphanet:399169 secondary avascular necrosis MONDO:0018379 primary avascular necrosis MONDO:0018373 Orphanet:399302 Orphanet:399164 avascular necrosis MONDO:0018380 idiopathic avascular necrosis MONDO:0018379 Orphanet:399307 Orphanet:399302 primary avascular necrosis MONDO:0018381 osteochondrosis MONDO:0005380 Orphanet:399319 Orphanet:399158 osteonecrosis MONDO:0018424 inherited lipoic acid biosynthesis defect MONDO:0004069 Orphanet:401854 Orphanet:68380 inborn mitochondrial metabolism disorder MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis MONDO:0016362 Orphanet:401911 Orphanet:220460 attenuated familial adenomatous polyposis MONDO:0018428 9q31.1q31.3 microdeletion syndrome MONDO:0015159 Orphanet:401923 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018428 9q31.1q31.3 microdeletion syndrome MONDO:0016908 Orphanet:401923 Orphanet:262074 partial monosomy of the long arm of chromosome 9 MONDO:0018429 14q24.1q24.3 microdeletion syndrome MONDO:0015159 Orphanet:401935 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018429 14q24.1q24.3 microdeletion syndrome MONDO:0016912 Orphanet:401935 Orphanet:262110 partial deletion of the long arm of chromosome 14 MONDO:0018432 lichen myxedematosus MONDO:0021154 Orphanet:402007 Orphanet:79381 dermis disorder MONDO:0018440 autosomal recessive distal renal tubular acidosis MONDO:0015827 Orphanet:402041 Orphanet:18 distal renal tubular acidosis MONDO:0018442 acitretin/etretinate embryopathy MONDO:0016677 Orphanet:40366 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO:0015159 Orphanet:404451 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome MONDO:0019716 Orphanet:404476 Orphanet:93460 overgrowth syndrome MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0015244 Orphanet:404481 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome MONDO:0015653 Orphanet:404481 Orphanet:166472 monogenic epilepsy MONDO:0018449 acquired cystic disease-associated renal cell carcinoma MONDO:0005086 Orphanet:404514 Orphanet:217071 renal cell carcinoma MONDO:0018453 familial atypical multiple mole melanoma syndrome MONDO:0015356 Orphanet:404560 Orphanet:140162 hereditary neoplastic syndrome MONDO:0018456 polyarticular juvenile idiopathic arthritis MONDO:0011429 Orphanet:404580 Orphanet:92 juvenile idiopathic arthritis MONDO:0018459 isolated glycerol kinase deficiency MONDO:0010613 Orphanet:408 Orphanet:308993 inborn glycerol kinase deficiency MONDO:0018461 Angelman syndrome due to a point mutation MONDO:0007113 Orphanet:411511 Orphanet:72 Angelman syndrome MONDO:0018462 Angelman syndrome due to imprinting defect in 15q11-q13 MONDO:0007113 Orphanet:411515 Orphanet:72 Angelman syndrome MONDO:0018463 mild phosphoribosylpyrophosphate synthetase superactivity MONDO:0010395 Orphanet:411536 Orphanet:3222 phosphoribosylpyrophosphate synthetase superactivity MONDO:0018464 severe phosphoribosylpyrophosphate synthetase superactivity MONDO:0010395 Orphanet:411543 Orphanet:3222 phosphoribosylpyrophosphate synthetase superactivity MONDO:0018465 insulin autoimmune syndrome MONDO:0005803 Orphanet:411593 Orphanet:443095 hyperinsulinemic hypoglycemia MONDO:0018468 proton-pump inhibitor-responsive esophageal eosinophilia MONDO:0018438 Orphanet:411696 Orphanet:402029 eosinophilic gastrointestinal disease MONDO:0018474 13q12.3 microdeletion syndrome MONDO:0015159 Orphanet:412035 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018474 13q12.3 microdeletion syndrome MONDO:0016911 Orphanet:412035 Orphanet:262101 partial deletion of the long arm of chromosome 13 MONDO:0018477 bilirubin encephalopathy MONDO:0017755 Orphanet:415286 Orphanet:309816 inborn disorder of bilirubin metabolism MONDO:0018479 congenital adrenal hyperplasia MONDO:0015514 Orphanet:418 Orphanet:156643 hereditary endocrine growth disease MONDO:0018479 congenital adrenal hyperplasia MONDO:0015898 Orphanet:418 Orphanet:181412 adrenogenital syndrome MONDO:0018480 carcinoma of esophagus, salivary gland type MONDO:0019086 Orphanet:418945 Orphanet:70482 carcinoma of esophagus MONDO:0018485 glycogen storage disease due to acid maltase deficiency, late-onset MONDO:0009290 Orphanet:420429 Orphanet:365 glycogen storage disease II MONDO:0018487 autosomal recessive severe congenital neutropenia due to CXCR2 deficiency MONDO:0028226 Orphanet:420699 Orphanet:439849 autosomal recessive severe congenital neutropenia MONDO:0018490 cono-spondylar dysplasia MONDO:0015159 Orphanet:420794 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome MONDO:0015159 Orphanet:423306 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO:0019236 Orphanet:423479 Orphanet:79191 inborn disorder of purine metabolism MONDO:0018498 double outlet right ventricle with subaortic or doubly committed ventricular septal defect MONDO:0018089 Orphanet:423693 Orphanet:3426 double outlet right ventricle MONDO:0018499 double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy MONDO:0018089 Orphanet:423712 Orphanet:3426 double outlet right ventricle MONDO:0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract MONDO:0018531 Orphanet:424970 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract MONDO:0018534 squamous cell carcinoma of liver and intrahepatic biliary tract MONDO:0018531 Orphanet:424975 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract MONDO:0018535 biliary cystadenocarcinoma MONDO:0018531 Orphanet:424982 Orphanet:424936 carcinoma of liver and intrahepatic biliary tract MONDO:0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract MONDO:0018918 Orphanet:424991 Orphanet:56044 carcinoma of gallbladder and extrahepatic biliary tract MONDO:0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract MONDO:0018918 Orphanet:424996 Orphanet:56044 carcinoma of gallbladder and extrahepatic biliary tract MONDO:0018541 familial hypoaldosteronism MONDO:0015900 Orphanet:427 Orphanet:181419 hypoaldosteronism disease MONDO:0018542 severe congenital neutropenia MONDO:0015134 Orphanet:42738 Orphanet:101987 constitutional neutropenia MONDO:0018543 autosomal dominant hypocalcemia MONDO:0016390 Orphanet:428 Orphanet:2238 familial hypoparathyroidism MONDO:0018544 adrenoleukodystrophy MONDO:0019046 Orphanet:43 Orphanet:68356 leukodystrophy MONDO:0018551 patent urachus MONDO:0018565 Orphanet:431341 Orphanet:435743 congenital urachal anomaly MONDO:0018552 urachal sinus MONDO:0018565 Orphanet:431344 Orphanet:435743 congenital urachal anomaly MONDO:0018553 urachal diverticulum MONDO:0018565 Orphanet:431347 Orphanet:435743 congenital urachal anomaly MONDO:0018556 Lambert-Eaton myasthenic syndrome MONDO:0018215 Orphanet:43393 Orphanet:36388 paraneoplastic neurologic syndrome MONDO:0018564 3p25.3 microdeletion syndrome MONDO:0016885 Orphanet:435638 Orphanet:261875 partial deletion of the short arm of chromosome 3 MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO:0018230 Orphanet:435804 Orphanet:364526 skeletal dysplasia MONDO:0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation MONDO:0018993 Orphanet:435819 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0018570 hypophosphatasia MONDO:0015327 Orphanet:436 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO:0016904 Orphanet:436003 Orphanet:262038 partial deletion of the long arm of chromosome 5 MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO:0015159 Orphanet:436141 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018576 non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy MONDO:0019046 Orphanet:436271 Orphanet:68356 leukodystrophy MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus MONDO:0008491 Orphanet:438266 Orphanet:3198 stiff-person syndrome MONDO:0018587 non-recovering obstetric brachial plexus lesion MONDO:0015923 Orphanet:439202 Orphanet:182086 acquired peripheral neuropathy MONDO:0018588 ALECT2 amyloidosis MONDO:0019065 Orphanet:439224 Orphanet:69 amyloidosis MONDO:0018589 AApoAIV amyloidosis MONDO:0019065 Orphanet:439232 Orphanet:69 amyloidosis MONDO:0018590 ABeta2M amyloidosis MONDO:0019065 Orphanet:439246 Orphanet:69 amyloidosis MONDO:0018591 ITM2B amyloidosis MONDO:0018634 Orphanet:439254 Orphanet:444116 hereditary amyloidosis MONDO:0018592 cutaneous polyarteritis nodosa MONDO:0018593 Orphanet:439729 Orphanet:439737 primary polyarteritis nodosa MONDO:0018593 primary polyarteritis nodosa MONDO:0019170 Orphanet:439737 Orphanet:767 polyarteritis nodosa MONDO:0018594 secondary polyarteritis nodosa MONDO:0019170 Orphanet:439746 Orphanet:767 polyarteritis nodosa MONDO:0018595 single-organ polyarteritis nodosa MONDO:0018593 Orphanet:439755 Orphanet:439737 primary polyarteritis nodosa MONDO:0018596 systemic polyarteritis nodosa MONDO:0018593 Orphanet:439762 Orphanet:439737 primary polyarteritis nodosa MONDO:0018604 familial colorectal cancer type X MONDO:0018630 Orphanet:440437 Orphanet:443909 hereditary nonpolyposis colon cancer MONDO:0018605 disorders of pentose/polyol metabolism MONDO:0019214 Orphanet:440701 Orphanet:79161 inborn carbohydrate metabolic disorder MONDO:0018610 early-onset posterior subcapsular cataract MONDO:0020377 Orphanet:441447 Orphanet:98992 early-onset partial cataract MONDO:0018613 AH amyloidosis MONDO:0019065 Orphanet:442582 Orphanet:69 amyloidosis MONDO:0018614 undetermined early-onset epileptic encephalopathy MONDO:0020070 Orphanet:442835 Orphanet:98257 neonatal epilepsy syndrome MONDO:0018614 undetermined early-onset epileptic encephalopathy MONDO:0020071 Orphanet:442835 Orphanet:98258 infantile epilepsy syndrome MONDO:0018615 hemicrania continua MONDO:0015530 Orphanet:443070 Orphanet:157843 trigeminal autonomic cephalalgia MONDO:0018621 lymphoplasmacytic lymphoma without IgM production MONDO:0017594 Orphanet:443159 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma MONDO:0018625 classic stiff person syndrome MONDO:0008491 Orphanet:443192 Orphanet:3198 stiff-person syndrome MONDO:0018626 paratyphoid fever MONDO:0000827 Orphanet:443227 Orphanet:795 salmonellosis MONDO:0018628 HIV-associated cancer MONDO:0017341 Orphanet:443291 Orphanet:289635 virus associated tumor MONDO:0018629 focal stiff limb syndrome MONDO:0008491 Orphanet:443804 Orphanet:3198 stiff-person syndrome MONDO:0018632 11q22.2q22.3 microdeletion syndrome MONDO:0015159 Orphanet:444002 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018632 11q22.2q22.3 microdeletion syndrome MONDO:0016910 Orphanet:444002 Orphanet:262092 partial deletion of the long arm of chromosome 11 MONDO:0018633 20q11.2 microdeletion syndrome MONDO:0015159 Orphanet:444051 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018633 20q11.2 microdeletion syndrome MONDO:0016918 Orphanet:444051 Orphanet:262164 partial deletion of the long arm of chromosome 20 MONDO:0018635 idiopathic phalangeal acro-osteolysis MONDO:0005380 Orphanet:444316 Orphanet:399158 osteonecrosis MONDO:0018640 secondary vasculitis MONDO:0018882 Orphanet:445197 Orphanet:52759 vasculitis MONDO:0018642 NIK deficiency MONDO:0018814 Orphanet:447731 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0018645 IgG4-related sclerosing cholangitis MONDO:0017287 Orphanet:447764 Orphanet:596448 IgG4-related disease MONDO:0018645 IgG4-related sclerosing cholangitis MONDO:0018646 Orphanet:447764 Orphanet:447771 sclerosing cholangitis MONDO:0018647 secondary sclerosing cholangitis MONDO:0018646 Orphanet:447774 Orphanet:447771 sclerosing cholangitis MONDO:0018653 Polymerase proofreading-related adenomatous polyposis MONDO:0016362 Orphanet:447877 Orphanet:220460 attenuated familial adenomatous polyposis MONDO:0018654 idiopathic dropped head syndrome MONDO:0016105 Orphanet:447881 Orphanet:206638 acquired skeletal muscle disease MONDO:0018656 tremor-ataxia-central hypomyelination syndrome MONDO:0100309 Orphanet:447896 Orphanet:183518 hereditary ataxia MONDO:0018658 19p13.3 microduplication syndrome MONDO:0015159 Orphanet:447980 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018658 19p13.3 microduplication syndrome MONDO:0018659 Orphanet:447980 Orphanet:447985 partial duplication of the short arm of chromosome 19 MONDO:0018659 partial duplication of the short arm of chromosome 19 MONDO:0016937 Orphanet:447985 Orphanet:262687 partial duplication of chromosome 19 MONDO:0018662 autosomal recessive brachyolmia MONDO:0015262 Orphanet:448242 Orphanet:1293 brachyolmia MONDO:0018663 regressive spondylometaphyseal dysplasia MONDO:0016763 Orphanet:448267 Orphanet:254 spondylometaphyseal dysplasia MONDO:0018664 ectopia cordis MONDO:0019512 Orphanet:448270 Orphanet:88991 congenital heart malformation MONDO:0018671 IgG4-related kidney disease MONDO:0017287 Orphanet:449395 Orphanet:596448 IgG4-related disease MONDO:0018672 IgG4-related aortitis MONDO:0017287 Orphanet:449400 Orphanet:596448 IgG4-related disease MONDO:0018673 IgG4-related pachymeningitis MONDO:0017287 Orphanet:449427 Orphanet:596448 IgG4-related disease MONDO:0018674 IgG4-related submandibular gland disease MONDO:0017287 Orphanet:449432 Orphanet:596448 IgG4-related disease MONDO:0018675 IgG4-related ophthalmic disorder MONDO:0017287 Orphanet:449563 Orphanet:596448 IgG4-related disease MONDO:0018676 eosinophilic angiocentric fibrosis MONDO:0017287 Orphanet:449566 Orphanet:284264 IgG4-related disease MONDO:0018678 polyclonal hyperviscosity syndrome MONDO:0005570 Orphanet:450322 Orphanet:97992 hematologic disorder MONDO:0018679 primary cutaneous plasmacytosis MONDO:0017287 Orphanet:451602 Orphanet:284264 IgG4-related disease MONDO:0018680 cutaneous pseudolymphoma MONDO:0017287 Orphanet:451607 Orphanet:284264 IgG4-related disease MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO:0015159 Orphanet:453499 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018683 acquired ichthyosis MONDO:0019269 Orphanet:454 Orphanet:79354 ichthyosis MONDO:0018688 anti-p200 pemphigoid MONDO:0019337 Orphanet:454710 Orphanet:79669 autoimmune bullous skin disease MONDO:0018689 plasma cell leukemia MONDO:0004959 Orphanet:454714 Orphanet:98282 plasma cell neoplasm MONDO:0018697 1p35.2 microdeletion syndrome MONDO:0015159 Orphanet:456298 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018697 1p35.2 microdeletion syndrome MONDO:0016883 Orphanet:456298 Orphanet:261857 partial deletion of the short arm of chromosome 1 MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0024237 Orphanet:457205 Orphanet:183500 inherited neurodegenerative disorder MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO:0015159 Orphanet:457359 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO:0019716 Orphanet:457359 Orphanet:93460 overgrowth syndrome MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0015159 Orphanet:457365 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018716 partially involuting congenital hemangioma MONDO:0018715 Orphanet:458785 Orphanet:458775 congenital hemangioma MONDO:0018724 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome MONDO:0015159 Orphanet:459070 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018725 corpus callosum agenesis-macrocephaly-hypertelorism syndrome MONDO:0015159 Orphanet:459074 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation MONDO:0013578 Orphanet:464311 Orphanet:464306 DYRK1A-related intellectual disability syndrome MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome MONDO:0002013 Orphanet:464321 Orphanet:2415 lymphangioma MONDO:0018746 mucous membrane pemphigoid MONDO:0019337 Orphanet:46486 Orphanet:79669 autoimmune bullous skin disease MONDO:0018747 acquired epidermolysis bullosa MONDO:0019337 Orphanet:46487 Orphanet:79669 autoimmune bullous skin disease MONDO:0018748 linear IgA Dermatosis MONDO:0019337 Orphanet:46488 Orphanet:79669 autoimmune bullous skin disease MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome MONDO:0016106 Orphanet:466921 Orphanet:206644 progressive muscular dystrophy MONDO:0018760 DeSanto-Shinawi syndrome MONDO:0015159 Orphanet:466943 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018761 SMARCA4-deficient sarcoma of thorax MONDO:0018078 Orphanet:466962 Orphanet:3394 soft tissue sarcoma MONDO:0018762 non-acquired combined pituitary hormone deficiency MONDO:0019824 Orphanet:467 Orphanet:95488 non-acquired pituitary hormone deficiency MONDO:0018768 familial cold autoinflammatory syndrome MONDO:0016168 Orphanet:47045 Orphanet:208650 cryopyrin-associated periodic syndrome MONDO:0018770 Jeune syndrome MONDO:0015461 Orphanet:474 Orphanet:1505 short rib-polydactyly syndrome MONDO:0018770 Jeune syndrome MONDO:0015962 Orphanet:474 Orphanet:183592 inherited renal tubular disease MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0015362 Orphanet:476093 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0018773 autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018943 Orphanet:476093 Orphanet:593 myofibrillar myopathy MONDO:0018776 demyelinating hereditary motor and sensory neuropathy MONDO:0015626 Orphanet:476116 Orphanet:166 Charcot-Marie-Tooth disease MONDO:0018777 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome MONDO:0019280 Orphanet:476119 Orphanet:79365 hypertrichosis MONDO:0018778 intermediate Charcot-Marie-Tooth disease MONDO:0015626 Orphanet:476123 Orphanet:166 Charcot-Marie-Tooth disease MONDO:0018781 KID syndrome MONDO:0019287 Orphanet:477 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0018804 MYO5B-related progressive familial intrahepatic cholestasis MONDO:0015762 Orphanet:480491 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0018810 lethal hydranencephaly-diaphragmatic hernia syndrome MONDO:0043009 Orphanet:480528 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0018813 high grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement MONDO:0017595 Orphanet:480541 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma MONDO:0018814 non-SCID combined immunodeficiency MONDO:0015131 Orphanet:480549 Orphanet:101972 combined immunodeficiency MONDO:0018815 aneurysmal bone cyst MONDO:0019060 Orphanet:480553 Orphanet:68411 bone neoplasm MONDO:0018816 isolated neonatal sclerosing cholangitis MONDO:0018646 Orphanet:480556 Orphanet:447771 sclerosing cholangitis MONDO:0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome MONDO:0024237 Orphanet:480864 Orphanet:183500 inherited neurodegenerative disorder MONDO:0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome MONDO:0015159 Orphanet:480898 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018823 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome MONDO:0015159 Orphanet:480907 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018825 PYCR2-related microcephaly-progressive leukoencephalopathy MONDO:0015159 Orphanet:481152 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018826 Lewis-Sumner syndrome MONDO:0006702 Orphanet:48162 Orphanet:2932 chronic inflammatory demyelinating polyradiculoneuropathy MONDO:0018827 familial chilblain lupus MONDO:0957408 Orphanet:481662 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0018828 pseudo-TORCH syndrome 2 MONDO:0957408 Orphanet:481665 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0018829 familial schizencephaly MONDO:0010011 Orphanet:481986 Orphanet:799 schizencephaly MONDO:0018837 postinfectious vasculitis MONDO:0018640 Orphanet:48435 Orphanet:445197 secondary vasculitis MONDO:0018839 acquired schizencephaly MONDO:0010011 Orphanet:485275 Orphanet:799 schizencephaly MONDO:0018842 primary effusion lymphoma MONDO:0015157 Orphanet:48686 Orphanet:102024 human herpesvirus 8-related tumor MONDO:0018842 primary effusion lymphoma MONDO:0017343 Orphanet:48686 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0018843 embryonal carcinoma of the central nervous system MONDO:0005440 Orphanet:48736 Orphanet:180226 embryonal carcinoma MONDO:0018844 urachal cyst MONDO:0018565 Orphanet:488 Orphanet:435743 congenital urachal anomaly MONDO:0018845 focal myositis MONDO:0020122 Orphanet:48918 Orphanet:98482 acquired idiopathic inflammatory myopathy MONDO:0018846 penile agenesis MONDO:0020040 Orphanet:49 Orphanet:98085 46,XY disorder of sex development MONDO:0018848 IgG4-related retroperitoneal fibrosis MONDO:0017287 Orphanet:49041 Orphanet:596448 IgG4-related disease MONDO:0018852 achromatopsia MONDO:0001703 Orphanet:49382 Orphanet:98658 color vision disorder MONDO:0018856 lichen amyloidosis MONDO:0015301 Orphanet:49804 Orphanet:137807 primary cutaneous amyloidosis MONDO:0018857 creeping myiasis MONDO:0020568 Orphanet:504 Orphanet:99983 cutaneous myiasis MONDO:0018858 Graham Little-Piccardi-Lassueur syndrome MONDO:0004907 Orphanet:505 Orphanet:79364 alopecia MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0019046 Orphanet:51 Orphanet:68356 leukodystrophy MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0957408 Orphanet:51 Orphanet:481671 type 1 interferonopathy of childhood MONDO:0018868 metachromatic leukodystrophy MONDO:0019046 Orphanet:512 Orphanet:68356 leukodystrophy MONDO:0018868 metachromatic leukodystrophy MONDO:0019255 Orphanet:512 Orphanet:79225 sphingolipidosis MONDO:0018869 cobblestone lissencephaly MONDO:0018838 Orphanet:51577 Orphanet:48471 lissencephaly spectrum disorders MONDO:0018871 acute myelomonocytic leukemia M4 MONDO:0015667 Orphanet:517 Orphanet:167714 acute myeloid leukemia by FAB classification MONDO:0018872 acute megakaryoblastic leukemia MONDO:0015667 Orphanet:518 Orphanet:167714 acute myeloid leukemia by FAB classification MONDO:0018873 anterior cutaneous nerve entrapment syndrome MONDO:0015923 Orphanet:51890 Orphanet:182086 acquired peripheral neuropathy MONDO:0018876 mantle cell lymphoma MONDO:0017595 Orphanet:52416 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma MONDO:0018878 branchiootic syndrome MONDO:0015161 Orphanet:52429 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0018879 lichen planopilaris MONDO:0004907 Orphanet:525 Orphanet:79364 alopecia MONDO:0018881 myelodysplastic syndrome MONDO:0015756 Orphanet:52688 Orphanet:171895 myeloid hemopathy MONDO:0018883 Berardinelli-Seip congenital lipodystrophy MONDO:0020087 Orphanet:528 Orphanet:98305 hereditary lipodystrophy MONDO:0018884 Roch-Leri mesosomatous lipomatosis MONDO:0019296 Orphanet:529 Orphanet:79382 subcutaneous tissue disorder MONDO:0018889 hyaline body myopathy MONDO:0016195 Orphanet:53698 Orphanet:209185 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) MONDO:0018889 hyaline body myopathy MONDO:0019952 Orphanet:53698 Orphanet:97245 congenital myopathy MONDO:0018890 Lyell syndrome MONDO:0019810 Orphanet:537 Orphanet:95455 toxic epidermal necrolysis MONDO:0018892 Wyburn-Mason syndrome MONDO:0015405 Orphanet:53719 Orphanet:141189 cerebrofacial arteriovenous metameric syndrome MONDO:0018892 Wyburn-Mason syndrome MONDO:0019293 Orphanet:53719 Orphanet:79379 skin vascular disease MONDO:0018893 Cobb syndrome MONDO:0019293 Orphanet:53721 Orphanet:79379 skin vascular disease MONDO:0018894 distal hereditary motor neuropathy MONDO:0020127 Orphanet:53739 Orphanet:98497 hereditary peripheral neuropathy MONDO:0018894 distal hereditary motor neuropathy MONDO:0024257 Orphanet:53739 Orphanet:98505 hereditary motor neuron disease MONDO:0018895 Plummer-Vinson syndrome MONDO:0016625 Orphanet:54028 Orphanet:248302 acquired deficiency anemia MONDO:0018897 primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO:0015816 Orphanet:541 Orphanet:178548 indolent primary cutaneous T-cell lymphoma MONDO:0018898 primary cutaneous lymphoma MONDO:0017207 Orphanet:542 Orphanet:279911 primary organ-specific lymphoma MONDO:0018899 posterior cortical atrophy MONDO:0024237 Orphanet:54247 Orphanet:183500 inherited neurodegenerative disorder MONDO:0018905 diffuse large B-cell lymphoma MONDO:0017595 Orphanet:544 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma MONDO:0018906 follicular lymphoma MONDO:0017594 Orphanet:545 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma MONDO:0018908 non-Hodgkin lymphoma MONDO:0005062 Orphanet:547 Orphanet:223735 lymphoma MONDO:0018910 oculocutaneous albinism MONDO:0018134 Orphanet:55 Orphanet:352728 disorder of melanin metabolism MONDO:0018910 oculocutaneous albinism MONDO:0019290 Orphanet:55 Orphanet:79376 hypopigmentation of the skin MONDO:0018911 maturity-onset diabetes of the young MONDO:0015967 Orphanet:552 Orphanet:183625 monogenic diabetes MONDO:0018914 hypotrichosis simplex MONDO:0004907 Orphanet:55654 Orphanet:79364 alopecia MONDO:0018920 peripartum cardiomyopathy MONDO:0016338 Orphanet:563 Orphanet:217629 non-familial dilated cardiomyopathy MONDO:0018921 Meckel syndrome MONDO:0043009 Orphanet:564 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0018922 cold agglutinin disease MONDO:0016450 Orphanet:56425 Orphanet:228312 autoimmune hemolytic anemia, cold type MONDO:0018923 22q11.2 deletion syndrome MONDO:0022760 Orphanet:567 Orphanet:262182 chromosome 22q deletion MONDO:0018924 microphthalmia, Lenz type MONDO:0016073 Orphanet:568 Orphanet:202948 syndromic microphthalmia MONDO:0018927 SUNCT syndrome MONDO:0015530 Orphanet:57145 Orphanet:157843 trigeminal autonomic cephalalgia MONDO:0018929 medial condensing osteitis of the clavicle MONDO:0018381 Orphanet:57196 Orphanet:399319 osteochondrosis MONDO:0018931 mucolipidosis type III, alpha/beta MONDO:0800088 Orphanet:577 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0018937 mucopolysaccharidosis type 3 MONDO:0019249 Orphanet:581 Orphanet:79213 mucopolysaccharidosis MONDO:0018938 mucopolysaccharidosis type 4 MONDO:0019249 Orphanet:582 Orphanet:79213 mucopolysaccharidosis MONDO:0018941 furuncular myiasis MONDO:0020568 Orphanet:591 Orphanet:99983 cutaneous myiasis MONDO:0018942 macrophagic myofasciitis MONDO:0016105 Orphanet:592 Orphanet:206638 acquired skeletal muscle disease MONDO:0018945 McLeod neuroacanthocytosis syndrome MONDO:0016987 Orphanet:59306 Orphanet:263440 neuroacanthocytosis MONDO:0018947 centronuclear myopathy MONDO:0019952 Orphanet:595 Orphanet:97245 congenital myopathy MONDO:0018948 multiminicore myopathy MONDO:0016197 Orphanet:598 Orphanet:209193 qualitative or quantitative defects of selenoprotein N1 MONDO:0018950 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0019215 Orphanet:6 Orphanet:79163 classic organic aciduria MONDO:0018951 distal myopathy with vocal cord weakness MONDO:0016108 Orphanet:600 Orphanet:206650 autosomal dominant distal myopathy MONDO:0018954 Loeys-Dietz syndrome MONDO:0017310 Orphanet:60030 Orphanet:284993 Marfan and Marfan-related disorder MONDO:0018957 pudendal neuralgia MONDO:0015923 Orphanet:60039 Orphanet:182086 acquired peripheral neuropathy MONDO:0018959 potassium-aggravated myotonia MONDO:0016120 Orphanet:612 Orphanet:206970 myotonic syndrome MONDO:0018963 hereditary methemoglobinemia MONDO:0019050 Orphanet:621 Orphanet:68364 inherited hemoglobinopathy MONDO:0018964 homocystinuria without methylmalonic aciduria MONDO:0019220 Orphanet:622 Orphanet:79171 inborn disorder of cobalamin metabolism and transport MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia MONDO:0010615 Orphanet:632 Orphanet:231692 isolated growth hormone deficiency type III MONDO:0018974 paraneoplastic pemphigus MONDO:0019337 Orphanet:63455 Orphanet:79669 autoimmune bullous skin disease MONDO:0018975 neurofibromatosis type 1 MONDO:0021060 Orphanet:636 Orphanet:536391 RASopathy MONDO:0018978 IgG4-related mediastinitis MONDO:0017287 Orphanet:63999 Orphanet:596448 IgG4-related disease MONDO:0018980 acrofacial dysostosis, Kennedy-Teebi type MONDO:0018237 Orphanet:64542 Orphanet:364574 acrofacial dysostosis MONDO:0018992 IgG4-related thyroid disease MONDO:0017287 Orphanet:64744 Orphanet:596448 IgG4-related disease MONDO:0018994 Charcot-Marie-Tooth disease type X MONDO:0015626 Orphanet:64747 Orphanet:166 Charcot-Marie-Tooth disease MONDO:0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MONDO:0020127 Orphanet:64753 Orphanet:98497 hereditary peripheral neuropathy MONDO:0018997 Noonan syndrome MONDO:0020297 Orphanet:648 Orphanet:98733 Noonan syndrome and Noonan-related syndrome MONDO:0018999 LCAT deficiency MONDO:0017773 Orphanet:650 Orphanet:31153 hypoalphalipoproteinemia MONDO:0019002 Lhermitte-Duclos disease MONDO:0016729 Orphanet:65285 Orphanet:251934 mixed neuronal-glial tumor MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0015075 Orphanet:653 Orphanet:100088 thyroid gland carcinoma MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0017169 Orphanet:653 Orphanet:276161 multiple endocrine neoplasia MONDO:0019008 benign recurrent intrahepatic cholestasis MONDO:0017290 Orphanet:65682 Orphanet:284385 familial intrahepatic cholestasis MONDO:0019008 benign recurrent intrahepatic cholestasis MONDO:0017755 Orphanet:65682 Orphanet:309816 inborn disorder of bilirubin metabolism MONDO:0019009 isolated focal cortical dysplasia MONDO:0017094 Orphanet:65683 Orphanet:268950 cerebral cortical dysplasia MONDO:0019010 congenital isolated hyperinsulinism MONDO:0017182 Orphanet:657 Orphanet:276525 familial hyperinsulinism MONDO:0019016 maternally-inherited progressive external ophthalmoplegia MONDO:0009637 Orphanet:663 Orphanet:206966 inborn mitochondrial myopathy MONDO:0019023 cutaneous mastocytosis MONDO:0007950 Orphanet:66646 Orphanet:98292 mastocytosis MONDO:0019024 mast cell sarcoma MONDO:0007950 Orphanet:66661 Orphanet:98292 mastocytosis MONDO:0019026 autosomal recessive osteopetrosis MONDO:0017198 Orphanet:667 Orphanet:2781 osteopetrosis MONDO:0019031 thrombocytopenia with congenital dyserythropoietic anemia MONDO:0019403 Orphanet:67044 Orphanet:85 congenital dyserythropoietic anemia MONDO:0019033 primary cutis verticis gyrata MONDO:0021154 Orphanet:671 Orphanet:79381 dermis disorder MONDO:0019037 progressive supranuclear palsy MONDO:0020257 Orphanet:683 Orphanet:98687 supranuclear oculomotor palsy MONDO:0019042 multiple congenital anomalies/dysmorphic syndrome MONDO:0019755 Orphanet:68341 Orphanet:93890 developmental defect during embryogenesis MONDO:0019053 peroxisomal disease MONDO:0019052 Orphanet:68373 Orphanet:68367 inborn errors of metabolism MONDO:0019054 congenital limb malformation MONDO:0019755 Orphanet:68378 Orphanet:93890 developmental defect during embryogenesis MONDO:0019064 hereditary spastic paraplegia MONDO:0024237 Orphanet:685 Orphanet:183500 inherited neurodegenerative disorder MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome MONDO:0018170 Orphanet:69061 Orphanet:357502 idiopathic nephrotic syndrome MONDO:0019071 pure hair and nail ectodermal dysplasia MONDO:0019287 Orphanet:69084 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0019074 bilateral acute depigmentation of the iris MONDO:0011119 Orphanet:69736 Orphanet:98634 iridogoniodysgenesis MONDO:0019078 Ritscher-Schinzel syndrome MONDO:0015159 Orphanet:7 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019080 alopecia totalis MONDO:0004907 Orphanet:700 Orphanet:79364 alopecia MONDO:0019082 bullous pemphigoid MONDO:0019337 Orphanet:703 Orphanet:79669 autoimmune bullous skin disease MONDO:0019094 congenital Epstein-Barr virus infection MONDO:0016511 Orphanet:70596 Orphanet:232035 infectious embryofetopathy MONDO:0019100 neuromyelitis optica MONDO:0044685 Orphanet:71211 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0019107 Rh deficiency syndrome MONDO:0020102 Orphanet:71275 Orphanet:98365 hereditary stomatocytosis MONDO:0019112 cancer-associated retinopathy MONDO:0018215 Orphanet:71505 Orphanet:36388 paraneoplastic neurologic syndrome MONDO:0019113 benign paroxysmal torticollis of infancy MONDO:0016058 Orphanet:71518 Orphanet:200037 paroxysmal dystonia MONDO:0019119 muscular channelopathy MONDO:0019056 Orphanet:71864 Orphanet:68381 neuromuscular disease MONDO:0019122 idiopathic acute eosinophilic pneumonia MONDO:0015927 Orphanet:724 Orphanet:182101 idiopathic eosinophilic pneumonia MONDO:0019124 microscopic polyangiitis MONDO:0015492 Orphanet:727 Orphanet:156152 anti-neutrophil cytoplasmic antibody-associated vasculitis MONDO:0019127 polymyositis MONDO:0020122 Orphanet:732 Orphanet:98482 acquired idiopathic inflammatory myopathy MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO:0015929 Orphanet:73230 Orphanet:182108 thoracic malformation MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO:0015159 Orphanet:73246 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019141 porokeratosis of Mibelli MONDO:0006602 Orphanet:735 Orphanet:79358 porokeratosis MONDO:0019142 inherited porphyria MONDO:0015951 Orphanet:738 Orphanet:183490 hereditary photodermatosis MONDO:0019142 inherited porphyria MONDO:0017754 Orphanet:738 Orphanet:309813 inborn disorder of porphyrin metabolism MONDO:0019148 Wolman disease MONDO:0800449 Orphanet:75233 Orphanet:275761 lysosomal acid lipase deficiency MONDO:0019149 cholesteryl ester storage disease MONDO:0800449 Orphanet:75234 Orphanet:275761 lysosomal acid lipase deficiency MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO:0015159 Orphanet:75389 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019157 myelodysplastic syndrome with ring sideroblasts MONDO:0015194 Orphanet:75564 Orphanet:1047 sideroblastic anemia MONDO:0019157 myelodysplastic syndrome with ring sideroblasts MONDO:0018881 Orphanet:75564 Orphanet:52688 myelodysplastic syndrome MONDO:0019158 tropical endomyocardial fibrosis MONDO:0016345 Orphanet:75565 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0019159 Loeffler endocarditis MONDO:0016345 Orphanet:75566 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0019161 pseudohypoaldosteronism type 1 MONDO:0015962 Orphanet:756 Orphanet:183592 inherited renal tubular disease MONDO:0019164 6q terminal deletion syndrome MONDO:0016905 Orphanet:75857 Orphanet:262047 partial deletion of the long arm of chromosome 6 MONDO:0019165 central precocious puberty MONDO:0000088 Orphanet:650063 Orphanet:95708 precocious puberty MONDO:0019167 immunoglobulin A vasculitis MONDO:0015491 Orphanet:761 Orphanet:156149 immune complex mediated vasculitis MONDO:0019169 pyruvate dehydrogenase deficiency MONDO:0016789 Orphanet:765 Orphanet:254746 pyruvate metabolism disorder MONDO:0019173 rabies MONDO:0020010 Orphanet:770 Orphanet:98010 infectious disorder of the nervous system MONDO:0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome MONDO:0015161 Orphanet:77300 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019179 monosomy 9q22.3 MONDO:0016908 Orphanet:77301 Orphanet:262074 partial monosomy of the long arm of chromosome 9 MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO:0016231 Orphanet:774 Orphanet:211247 capillary malformation MONDO:0019187 Axenfeld-Rieger syndrome MONDO:0015161 Orphanet:782 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019188 Rubinstein-Taybi syndrome MONDO:0015159 Orphanet:783 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019189 inborn disorder of amino acid and other organic acid metabolism MONDO:0019052 Orphanet:79062 Orphanet:68367 inborn errors of metabolism MONDO:0019190 juvenile polyposis of infancy MONDO:0017380 Orphanet:79076 Orphanet:2929 juvenile polyposis syndrome MONDO:0019192 AKT2-related familial partial lipodystrophy MONDO:0020088 Orphanet:79085 Orphanet:98306 familial partial lipodystrophy MONDO:0019193 acquired generalized lipodystrophy MONDO:0020089 Orphanet:79086 Orphanet:98307 acquired lipodystrophy MONDO:0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome MONDO:0016112 Orphanet:79091 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0019197 folinic acid-responsive seizures MONDO:0019253 Orphanet:79097 Orphanet:79219 metabolic disease involving other neurotransmitter deficiency MONDO:0019198 sympathetic ophthalmia MONDO:0017634 Orphanet:79098 Orphanet:306648 non-infectious anterior uveitis MONDO:0019202 myxofibrosarcoma MONDO:0018078 Orphanet:79105 Orphanet:3394 soft tissue sarcoma MONDO:0019203 acute interstitial pneumonia MONDO:0002429 Orphanet:79126 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0019204 respiratory bronchiolitis-interstitial lung disease syndrome MONDO:0002429 Orphanet:79127 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0019205 trichodysplasia-amelogenesis imperfecta syndrome MONDO:0019287 Orphanet:79129 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO:0017341 Orphanet:79140 Orphanet:289635 virus associated tumor MONDO:0019211 isolated congenital anonychia MONDO:0019284 Orphanet:79143 Orphanet:79369 inherited isolated nail anomaly MONDO:0019212 disseminated superficial actinic porokeratosis MONDO:0006602 Orphanet:79152 Orphanet:79358 porokeratosis MONDO:0019214 inborn carbohydrate metabolic disorder MONDO:0019052 Orphanet:79161 Orphanet:68367 inborn errors of metabolism MONDO:0019215 classic organic aciduria MONDO:0000688 Orphanet:79163 Orphanet:289899 inborn organic aciduria MONDO:0019218 inborn disorder of bile acid synthesis MONDO:0019256 Orphanet:79168 Orphanet:79226 sterol metabolism disorder MONDO:0019219 inborn disorder of neurotransmitter metabolism and transport MONDO:0019250 Orphanet:79169 Orphanet:79214 inborn disorder of biogenic amine metabolism and transport MONDO:0019220 inborn disorder of cobalamin metabolism and transport MONDO:0017758 Orphanet:79171 Orphanet:309827 disorder of vitamin and non-protein cofactor absorption and transport MONDO:0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO:0019189 Orphanet:79173 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0019223 disorder of fatty acid and ketone body metabolism MONDO:0019243 Orphanet:79174 Orphanet:79200 inborn disorder of energy metabolism MONDO:0019225 disorder of gluconeogenesis MONDO:0019214 Orphanet:79177 Orphanet:79161 inborn carbohydrate metabolic disorder MONDO:0019226 glucose transport disorder MONDO:0017706 Orphanet:79178 Orphanet:309001 disorder of carbohydrate transmembrane transport and absorption MONDO:0019228 inborn disorder of histidine metabolism MONDO:0019189 Orphanet:79181 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0019229 inborn disorder of ketolysis MONDO:0019223 Orphanet:79183 Orphanet:79174 disorder of fatty acid and ketone body metabolism MONDO:0019230 inborn disorder of ornithine or proline metabolism MONDO:0019189 Orphanet:79185 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0019231 inborn disorder of pentose phosphate metabolism MONDO:0018605 Orphanet:79186 Orphanet:440701 disorders of pentose/polyol metabolism MONDO:0019234 peroxisome biogenesis disorder MONDO:0019046 Orphanet:79189 Orphanet:68356 leukodystrophy MONDO:0019234 peroxisome biogenesis disorder MONDO:0019053 Orphanet:79189 Orphanet:68373 peroxisomal disease MONDO:0019236 inborn disorder of purine metabolism MONDO:0019254 Orphanet:79191 Orphanet:79224 inborn disorder of purine or pyrimidine metabolism MONDO:0019237 inborn disorder of pyridoxine metabolism MONDO:0019250 Orphanet:79192 Orphanet:79214 inborn disorder of biogenic amine metabolism and transport MONDO:0019238 inborn disorder of pyrimidine metabolism MONDO:0019254 Orphanet:79193 Orphanet:79224 inborn disorder of purine or pyrimidine metabolism MONDO:0019239 inborn disorder of serine family metabolism MONDO:0019189 Orphanet:79194 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0019240 sterol biosynthesis disorder MONDO:0015327 Orphanet:79195 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0019240 sterol biosynthesis disorder MONDO:0019256 Orphanet:79195 Orphanet:79226 sterol metabolism disorder MONDO:0019241 inborn disorder of the gamma-glutamyl cycle MONDO:0019189 Orphanet:79196 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0019242 inborn disorder of branched-chain amino acid metabolism MONDO:0019189 Orphanet:79197 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0019243 inborn disorder of energy metabolism MONDO:0019052 Orphanet:79200 Orphanet:68367 inborn errors of metabolism MONDO:0019246 inborn disorder of lysosomal amino acid transport MONDO:0002561 Orphanet:79207 Orphanet:68366 lysosomal storage disease MONDO:0019248 mucolipidosis MONDO:0015327 Orphanet:79212 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0019248 mucolipidosis MONDO:0017731 Orphanet:79212 Orphanet:309279 glycoproteinosis MONDO:0019249 mucopolysaccharidosis MONDO:0002561 Orphanet:79213 Orphanet:68366 lysosomal storage disease MONDO:0019249 mucopolysaccharidosis MONDO:0015327 Orphanet:79213 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0019250 inborn disorder of biogenic amine metabolism and transport MONDO:0019052 Orphanet:79214 Orphanet:68367 inborn errors of metabolism MONDO:0019251 oligosaccharidosis MONDO:0015327 Orphanet:79215 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0019251 oligosaccharidosis MONDO:0017731 Orphanet:79215 Orphanet:309279 glycoproteinosis MONDO:0019253 metabolic disease involving other neurotransmitter deficiency MONDO:0019250 Orphanet:79219 Orphanet:79214 inborn disorder of biogenic amine metabolism and transport MONDO:0019254 inborn disorder of purine or pyrimidine metabolism MONDO:0019052 Orphanet:79224 Orphanet:68367 inborn errors of metabolism MONDO:0019256 sterol metabolism disorder MONDO:0002525 Orphanet:79226 Orphanet:309005 inherited lipid metabolism disorder MONDO:0019258 mild phenylketonuria MONDO:0009861 Orphanet:79253 Orphanet:716 phenylketonuria MONDO:0019259 classic phenylketonuria MONDO:0009861 Orphanet:79254 Orphanet:716 phenylketonuria MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:0001676 Orphanet:79278 Orphanet:659681 erythropoietic protoporphyria MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0017779 Orphanet:79281 Orphanet:3137 alpha-N-acetylgalactosaminidase deficiency MONDO:0019265 diazoxide-resistant focal hyperinsulinism MONDO:0017186 Orphanet:79298 Orphanet:276585 diazoxide-resistant hyperinsulinism MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- MONDO:0009612 Orphanet:79312 Orphanet:27 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0019269 ichthyosis MONDO:0019268 Orphanet:79354 Orphanet:79353 epidermal disease MONDO:0019270 erythrokeratoderma MONDO:0019268 Orphanet:79355 Orphanet:79353 epidermal disease MONDO:0019272 hereditary palmoplantar keratoderma MONDO:0019268 Orphanet:79357 Orphanet:79353 epidermal disease MONDO:0019276 inherited epidermolysis bullosa MONDO:0019268 Orphanet:79361 Orphanet:79353 epidermal disease MONDO:0019287 ectodermal dysplasia syndrome MONDO:0021026 Orphanet:79373 Orphanet:183447 hereditary epidermal appendage anomaly MONDO:0019289 hyperpigmentation of the skin MONDO:0019288 Orphanet:79375 Orphanet:79374 skin pigmentation disorder MONDO:0019290 hypopigmentation of the skin MONDO:0019288 Orphanet:79376 Orphanet:79374 skin pigmentation disorder MONDO:0019306 congenital non-bullous ichthyosiform erythroderma MONDO:0017265 Orphanet:79394 Orphanet:281097 autosomal recessive congenital ichthyosis MONDO:0019308 junctional epidermolysis bullosa inversa MONDO:0017612 Orphanet:79405 Orphanet:305 junctional epidermolysis bullosa MONDO:0019309 late-onset junctional epidermolysis bullosa MONDO:0017612 Orphanet:79406 Orphanet:305 junctional epidermolysis bullosa MONDO:0019312 Hermansky-Pudlak syndrome MONDO:0017305 Orphanet:79430 Orphanet:284811 syndromic oculocutaneous albinism MONDO:0019312 Hermansky-Pudlak syndrome MONDO:0017739 Orphanet:79430 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0019314 cutaneous mastocytoma MONDO:0019023 Orphanet:79455 Orphanet:66646 cutaneous mastocytosis MONDO:0019315 diffuse cutaneous mastocytosis MONDO:0019023 Orphanet:79456 Orphanet:66646 cutaneous mastocytosis MONDO:0019316 maculopapular cutaneous mastocytosis MONDO:0019023 Orphanet:79457 Orphanet:66646 cutaneous mastocytosis MONDO:0019318 inflammatory linear verrucous epidermal nevus MONDO:0016831 Orphanet:79466 Orphanet:2611 linear verrucous nevus syndrome MONDO:0019319 verrucous nevus MONDO:0016831 Orphanet:79467 Orphanet:2611 linear verrucous nevus syndrome MONDO:0019320 acanthokeratolytic verrucous nevus MONDO:0016831 Orphanet:79468 Orphanet:2611 linear verrucous nevus syndrome MONDO:0019325 phakomatosis cesioflammea MONDO:0017318 Orphanet:79483 Orphanet:2875 phakomatosis pigmentovascularis MONDO:0019326 phakomatosis cesiomarmorata MONDO:0017318 Orphanet:79484 Orphanet:2875 phakomatosis pigmentovascularis MONDO:0019327 phakomatosis spilorosea MONDO:0017318 Orphanet:79485 Orphanet:2875 phakomatosis pigmentovascularis MONDO:0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency MONDO:0015625 Orphanet:79643 Orphanet:165988 diazoxide-resistant diffuse hyperinsulinism MONDO:0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency MONDO:0015625 Orphanet:79644 Orphanet:165988 diazoxide-resistant diffuse hyperinsulinism MONDO:0019335 mild hyperphenylalaninemia MONDO:0009861 Orphanet:79651 Orphanet:716 phenylketonuria MONDO:0019336 Gardner syndrome MONDO:0021055 Orphanet:79665 Orphanet:733 classic familial adenomatous polyposis MONDO:0019344 antisynthetase syndrome MONDO:0020122 Orphanet:81 Orphanet:98482 acquired idiopathic inflammatory myopathy MONDO:0019346 sialidosis type 1 MONDO:0017734 Orphanet:812 Orphanet:309294 sialidosis MONDO:0019349 Sotos syndrome MONDO:0016904 Orphanet:821 Orphanet:262038 partial deletion of the long arm of chromosome 5 MONDO:0019356 urogenital tract malformation MONDO:0019755 Orphanet:83001 Orphanet:93890 developmental defect during embryogenesis MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0015327 Orphanet:833 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0019358 encephalopathy due to sulfite oxidase deficiency MONDO:0019222 Orphanet:833 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO:0019359 Rocky mountain spotted fever MONDO:0001195 Orphanet:83311 Orphanet:102022 spotted fever MONDO:0019360 rickettsialpox MONDO:0001195 Orphanet:83312 Orphanet:102022 spotted fever MONDO:0019362 epidemic louse-borne typhus MONDO:0001246 Orphanet:83314 Orphanet:102023 typhus MONDO:0019364 pseudotyphus of California MONDO:0001195 Orphanet:83316 Orphanet:102022 spotted fever MONDO:0019366 free sialic acid storage disease MONDO:0019246 Orphanet:834 Orphanet:79207 inborn disorder of lysosomal amino acid transport MONDO:0019371 narcolepsy without cataplexy MONDO:0021107 Orphanet:83465 Orphanet:619284 narcolepsy MONDO:0019372 solitary bone cyst MONDO:0019060 Orphanet:83468 Orphanet:68411 bone neoplasm MONDO:0019373 desmoplastic small round cell tumor MONDO:0018078 Orphanet:83469 Orphanet:3394 soft tissue sarcoma MONDO:0019374 CAMOS syndrome MONDO:0020043 Orphanet:83472 Orphanet:98095 autosomal recessive congenital cerebellar ataxia MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0020640 Orphanet:83601 Orphanet:622014 autoimmune encephalitis MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome MONDO:0015161 Orphanet:83619 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019388 pelvis syndrome MONDO:0015161 Orphanet:83628 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019391 Fanconi anemia MONDO:0001713 Orphanet:84 Orphanet:68383 inherited aplastic anemia MONDO:0019391 Fanconi anemia MONDO:0015161 Orphanet:84 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects MONDO:0019218 Orphanet:84065 Orphanet:79168 inborn disorder of bile acid synthesis MONDO:0019396 collagen type III glomerulopathy MONDO:0019722 Orphanet:84087 Orphanet:93548 glomerular disorder MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions MONDO:0016112 Orphanet:84132 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0019402 beta thalassemia MONDO:0017145 Orphanet:848 Orphanet:275749 beta-thalassemia and related diseases MONDO:0019404 perineurioma MONDO:0016749 Orphanet:85102 Orphanet:252057 tumor of cranial and spinal nerves MONDO:0019405 facial onset sensory and motor neuronopathy MONDO:0024237 Orphanet:85162 Orphanet:183500 inherited neurodegenerative disorder MONDO:0019406 craniofacial conodysplasia MONDO:0019695 Orphanet:85168 Orphanet:93436 acromelic dysplasia MONDO:0019408 Astley-Kendall dysplasia MONDO:0019701 Orphanet:85175 Orphanet:93442 chondrodysplasia punctata MONDO:0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome MONDO:0015159 Orphanet:85317 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome MONDO:0015159 Orphanet:85319 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019420 X-linked intellectual disability, Pai type MONDO:0015159 Orphanet:85322 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019422 X-linked intellectual disability, Stevenson type MONDO:0015159 Orphanet:85325 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019423 X-linked intellectual disability, Stoll type MONDO:0015159 Orphanet:85326 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019427 X-linked neurodegenerative syndrome, Bertini type MONDO:0024237 Orphanet:85334 Orphanet:183500 inherited neurodegenerative disorder MONDO:0019429 X-linked neurodegenerative syndrome, Hamel type MONDO:0024237 Orphanet:85336 Orphanet:183500 inherited neurodegenerative disorder MONDO:0019430 X-linked intellectual disability-ataxia-apraxia syndrome MONDO:0016612 Orphanet:85338 Orphanet:247765 X-linked cerebellar ataxia MONDO:0019432 rheumatoid factor-negative juvenile idiopathic arthritis MONDO:0018456 Orphanet:85408 Orphanet:404580 polyarticular juvenile idiopathic arthritis MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:0011429 Orphanet:85410 Orphanet:92 juvenile idiopathic arthritis MONDO:0019434 systemic-onset juvenile idiopathic arthritis MONDO:0011429 Orphanet:85414 Orphanet:92 juvenile idiopathic arthritis MONDO:0019435 rheumatoid factor-positive polyarticular juvenile idiopathic arthritis MONDO:0018456 Orphanet:85435 Orphanet:404580 polyarticular juvenile idiopathic arthritis MONDO:0019436 psoriasis-related juvenile idiopathic arthritis MONDO:0011429 Orphanet:85436 Orphanet:92 juvenile idiopathic arthritis MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0011429 Orphanet:85438 Orphanet:92 juvenile idiopathic arthritis MONDO:0019438 AL amyloidosis MONDO:0016330 Orphanet:85443 Orphanet:217598 non-familial hypertrophic cardiomyopathy MONDO:0019438 AL amyloidosis MONDO:0016345 Orphanet:85443 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0019438 AL amyloidosis MONDO:0019065 Orphanet:85443 Orphanet:69 amyloidosis MONDO:0019439 AA amyloidosis MONDO:0016345 Orphanet:85445 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0019439 AA amyloidosis MONDO:0019065 Orphanet:85445 Orphanet:69 amyloidosis MONDO:0019440 wild type ABeta2M amyloidosis MONDO:0018590 Orphanet:85446 Orphanet:439246 ABeta2M amyloidosis MONDO:0019443 dextro-looped transposition of the great arteries MONDO:0000153 Orphanet:860 Orphanet:216675 transposition of the great arteries MONDO:0019444 trichinellosis MONDO:0016128 Orphanet:863 Orphanet:206997 parasitic myositis MONDO:0019446 localized lichen myxedematosus MONDO:0018432 Orphanet:86795 Orphanet:402007 lichen myxedematosus MONDO:0019447 atypical lichen myxedematosus MONDO:0018432 Orphanet:86797 Orphanet:402007 lichen myxedematosus MONDO:0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome MONDO:0015148 Orphanet:86821 Orphanet:102011 lissencephaly type 3 MONDO:0019450 lissencephaly with cerebellar hypoplasia MONDO:0018838 Orphanet:86823 Orphanet:48471 lissencephaly spectrum disorders MONDO:0019451 chronic neutrophilic leukemia MONDO:0020076 Orphanet:86829 Orphanet:98274 myeloproliferative neoplasm MONDO:0019452 myeloproliferative neoplasm, unclassifiable MONDO:0020076 Orphanet:86830 Orphanet:98274 myeloproliferative neoplasm MONDO:0019453 myelodysplastic syndrome with multilineage dysplasia MONDO:0018881 Orphanet:86836 Orphanet:52688 myelodysplastic syndrome MONDO:0019454 myelodysplastic syndrome with excess blasts MONDO:0018881 Orphanet:86839 Orphanet:52688 myelodysplastic syndrome MONDO:0019455 acute panmyelosis with myelofibrosis MONDO:0015667 Orphanet:86843 Orphanet:167714 acute myeloid leukemia by FAB classification MONDO:0019456 acute myeloid leukemia with multilineage dysplasia MONDO:0018874 Orphanet:86845 Orphanet:519 acute myeloid leukemia MONDO:0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome MONDO:0018874 Orphanet:86846 Orphanet:519 acute myeloid leukemia MONDO:0019458 acute basophilic leukemia MONDO:0015667 Orphanet:86849 Orphanet:167714 acute myeloid leukemia by FAB classification MONDO:0019460 acute leukemia of ambiguous lineage MONDO:0018874 Orphanet:86851 Orphanet:519 acute myeloid leukemia MONDO:0019461 B-cell prolymphocytic leukemia MONDO:0017595 Orphanet:86852 Orphanet:300846 aggressive B-cell non-Hodgkin lymphoma MONDO:0019462 splenic marginal zone lymphoma MONDO:0017604 Orphanet:86854 Orphanet:300912 marginal zone lymphoma MONDO:0019463 non-amyloid monoclonal immunoglobulin deposition disease MONDO:0004959 Orphanet:86861 Orphanet:98282 plasma cell neoplasm MONDO:0019464 heavy chain disease MONDO:0004959 Orphanet:86864 Orphanet:98282 plasma cell neoplasm MONDO:0019465 nodal marginal zone B-cell lymphoma MONDO:0017604 Orphanet:86867 Orphanet:300912 marginal zone lymphoma MONDO:0019466 lymphomatoid granulomatosis MONDO:0017343 Orphanet:86869 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0019466 lymphomatoid granulomatosis MONDO:0018905 Orphanet:86869 Orphanet:544 diffuse large B-cell lymphoma MONDO:0019467 CD4+/CD56+ hematodermic neoplasm MONDO:0015760 Orphanet:86870 Orphanet:171918 T-cell non-Hodgkin lymphoma MONDO:0019471 adult T-cell leukemia/lymphoma MONDO:0017341 Orphanet:86875 Orphanet:289635 virus associated tumor MONDO:0019472 extranodal nasal NK/T cell lymphoma MONDO:0017343 Orphanet:86879 Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0019473 enteropathy-associated T-cell lymphoma MONDO:0015760 Orphanet:86880 Orphanet:171918 T-cell non-Hodgkin lymphoma MONDO:0019474 hepatosplenic T-cell lymphoma MONDO:0015760 Orphanet:86882 Orphanet:171918 T-cell non-Hodgkin lymphoma MONDO:0019475 subcutaneous panniculitis-like T-cell lymphoma MONDO:0015816 Orphanet:86884 Orphanet:178548 indolent primary cutaneous T-cell lymphoma MONDO:0019483 methotrexate-associated lymphoproliferative disorders MONDO:0020083 Orphanet:86904 Orphanet:98290 immunodeficiency-associated lymphoproliferative disease MONDO:0019485 idiopathic hemiconvulsion-hemiplegia syndrome MONDO:0020071 Orphanet:86908 Orphanet:98258 infantile epilepsy syndrome MONDO:0019499 Turner syndrome MONDO:0017975 Orphanet:881 Orphanet:325546 sex chromosome disorder of sex development MONDO:0019499 Turner syndrome MONDO:0019852 Orphanet:881 Orphanet:95710 inherited primary ovarian failure MONDO:0019500 extragonadal teratoma MONDO:0020539 Orphanet:883 Orphanet:99913 extragonadal non-dysgerminomatous germ cell tumor MONDO:0019508 van der Woude syndrome MONDO:0015161 Orphanet:888 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019509 cutaneous leukocytoclastic angiitis MONDO:0015491 Orphanet:889 Orphanet:156149 immune complex mediated vasculitis MONDO:0019517 Waardenburg syndrome type 2 MONDO:0018094 Orphanet:895 Orphanet:3440 Waardenburg syndrome MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other MONDO:0006543 Orphanet:89842 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0019524 Bartter syndrome type 4 MONDO:0015231 Orphanet:89938 Orphanet:112 Bartter syndrome MONDO:0019525 tetrasomy X MONDO:0019852 Orphanet:9 Orphanet:95710 inherited primary ovarian failure MONDO:0019526 erythema elevatum diutinum MONDO:0015491 Orphanet:90000 Orphanet:156149 immune complex mediated vasculitis MONDO:0019532 autoimmune hemolytic anemia, warm type MONDO:0020108 Orphanet:90033 Orphanet:98375 autoimmune hemolytic anemia MONDO:0019533 paroxysmal cold hemoglobinuria MONDO:0016450 Orphanet:90035 Orphanet:228312 autoimmune hemolytic anemia, cold type MONDO:0019534 mixed-type autoimmune hemolytic anemia MONDO:0020108 Orphanet:90036 Orphanet:98375 autoimmune hemolytic anemia MONDO:0019535 drug-induced autoimmune hemolytic anemia MONDO:0020108 Orphanet:90037 Orphanet:98375 autoimmune hemolytic anemia MONDO:0019536 Shiga toxin-associated hemolytic uremic syndrome MONDO:0034103 Orphanet:90038 Orphanet:544482 infection-related hemolytic uremic syndrome MONDO:0019537 hemoglobin D disease MONDO:0019050 Orphanet:90039 Orphanet:68364 inherited hemoglobinopathy MONDO:0019538 Gaisbock syndrome MONDO:0016541 Orphanet:90041 Orphanet:238547 acquired secondary polycythemia MONDO:0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0018778 Orphanet:90114 Orphanet:476123 intermediate Charcot-Marie-Tooth disease MONDO:0019552 centrifugal lipodystrophy MONDO:0019194 Orphanet:90156 Orphanet:79088 localized lipodystrophy MONDO:0019553 drug-induced localized lipodystrophy MONDO:0019194 Orphanet:90157 Orphanet:79088 localized lipodystrophy MONDO:0019554 idiopathic localized lipodystrophy MONDO:0019194 Orphanet:90158 Orphanet:79088 localized lipodystrophy MONDO:0019555 panniculitis and localized lipodystrophy MONDO:0019194 Orphanet:90159 Orphanet:79088 localized lipodystrophy MONDO:0019556 pressure-induced localized lipoatrophy MONDO:0019194 Orphanet:90160 Orphanet:79088 localized lipodystrophy MONDO:0019557 chilblain lupus MONDO:0015574 Orphanet:90280 Orphanet:163531 chronic cutaneous lupus erythematosus MONDO:0019557 chilblain lupus MONDO:0019293 Orphanet:90280 Orphanet:79379 skin vascular disease MONDO:0019558 discoid lupus erythematosus MONDO:0015574 Orphanet:90281 Orphanet:163531 chronic cutaneous lupus erythematosus MONDO:0019559 hypertrophic or verrucous lupus erythematosus MONDO:0015574 Orphanet:90282 Orphanet:163531 chronic cutaneous lupus erythematosus MONDO:0019560 lupus erythematosus tumidus MONDO:0015574 Orphanet:90283 Orphanet:163531 chronic cutaneous lupus erythematosus MONDO:0019561 lupus erythematosus panniculitis MONDO:0015574 Orphanet:90285 Orphanet:163531 chronic cutaneous lupus erythematosus MONDO:0019562 localized scleroderma MONDO:0019340 Orphanet:90289 Orphanet:801 scleroderma MONDO:0019569 Cockayne syndrome type 1 MONDO:0016006 Orphanet:90321 Orphanet:191 Cockayne syndrome MONDO:0019570 Cockayne syndrome type 2 MONDO:0016006 Orphanet:90322 Orphanet:191 Cockayne syndrome MONDO:0019573 autosomal recessive cutis laxa type 2 MONDO:0017355 Orphanet:90350 Orphanet:289866 inborn disorder of proline metabolism MONDO:0019574 secondary intestinal lymphangiectasia MONDO:0018178 Orphanet:90363 Orphanet:36204 intestinal lymphangiectasia MONDO:0019575 hypotrichosis simplex of the scalp MONDO:0004907 Orphanet:90368 Orphanet:79364 alopecia MONDO:0019576 telangiectasia macularis eruptiva perstans MONDO:0019316 Orphanet:90389 Orphanet:79457 maculopapular cutaneous mastocytosis MONDO:0019577 anonychia-onychodystrophy syndrome MONDO:0019211 Orphanet:90390 Orphanet:79143 isolated congenital anonychia MONDO:0019578 nodular lichen myxedematosus MONDO:0019446 Orphanet:90393 Orphanet:86795 localized lichen myxedematosus MONDO:0019579 discrete papular lichen myxedematosus MONDO:0019446 Orphanet:90394 Orphanet:86795 localized lichen myxedematosus MONDO:0019580 papular mucinosis of infancy MONDO:0019446 Orphanet:90395 Orphanet:86795 localized lichen myxedematosus MONDO:0019581 acral persistent papular mucinosis MONDO:0019446 Orphanet:90396 Orphanet:86795 localized lichen myxedematosus MONDO:0019582 self-healing papular mucinosis MONDO:0019446 Orphanet:90397 Orphanet:86795 localized lichen myxedematosus MONDO:0019583 localized lichen myxedematosus with mixed features of different subtypes MONDO:0019447 Orphanet:90398 Orphanet:86797 atypical lichen myxedematosus MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms MONDO:0019447 Orphanet:90399 Orphanet:86797 atypical lichen myxedematosus MONDO:0019585 scleromyxedema without monoclonal gammopathy MONDO:0019447 Orphanet:90400 Orphanet:86797 atypical lichen myxedematosus MONDO:0019586 X-linked nonsyndromic hearing loss MONDO:0019497 Orphanet:90625 Orphanet:87884 nonsyndromic genetic hearing loss MONDO:0019587 autosomal dominant nonsyndromic hearing loss MONDO:0019497 Orphanet:90635 Orphanet:87884 nonsyndromic genetic hearing loss MONDO:0019588 hearing loss, autosomal recessive MONDO:0019497 Orphanet:90636 Orphanet:87884 nonsyndromic genetic hearing loss MONDO:0019600 xeroderma pigmentosum MONDO:0015951 Orphanet:910 Orphanet:183490 hereditary photodermatosis MONDO:0019605 immunotactoid or fibrillary glomerulopathy MONDO:0019722 Orphanet:91137 Orphanet:93548 glomerular disorder MONDO:0019607 unspecified juvenile idiopathic arthritis MONDO:0011429 Orphanet:91140 Orphanet:92 juvenile idiopathic arthritis MONDO:0019609 Zellweger spectrum disorders MONDO:0015327 Orphanet:912 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0019609 Zellweger spectrum disorders MONDO:0019234 Orphanet:912 Orphanet:79189 peroxisome biogenesis disorder MONDO:0019612 functioning gonadotropic adenoma MONDO:0003429 Orphanet:91348 Orphanet:314753 functioning pituitary gland adenoma MONDO:0019613 non-functioning pituitary adenoma MONDO:0006373 Orphanet:91349 Orphanet:99408 pituitary gland adenoma MONDO:0019615 pituitary dermoid and epidermoid cysts MONDO:0021227 Orphanet:91351 Orphanet:100091 adrenal gland neoplasm MONDO:0019621 chronic pneumonitis of infancy MONDO:0017019 Orphanet:91359 Orphanet:264694 interstitial lung disease specific to infancy MONDO:0019622 non-specific interstitial pneumonia MONDO:0002429 Orphanet:91364 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0019628 Rieger anomaly MONDO:0011119 Orphanet:91483 Orphanet:98634 iridogoniodysgenesis MONDO:0019630 congenital ectropion uveae MONDO:0011119 Orphanet:91491 Orphanet:98634 iridogoniodysgenesis MONDO:0019634 familial nasal acilia MONDO:0018751 Orphanet:922 Orphanet:466084 hereditary otorhinolaryngologic disease MONDO:0019636 renal agenesis, unilateral MONDO:0018470 Orphanet:93100 Orphanet:411709 renal agenesis MONDO:0019640 posterior urethral valve MONDO:0018559 Orphanet:93110 Orphanet:435365 fetal lower urinary tract obstruction MONDO:0019642 vitamin D-dependent rickets, type 2 MONDO:0017323 Orphanet:93160 Orphanet:289103 hypocalcemic rickets MONDO:0019643 transient pseudohypoaldosteronism MONDO:0018638 Orphanet:93164 Orphanet:444916 pseudohypoaldosteronism MONDO:0019644 renal dysplasia, unilateral MONDO:0019638 Orphanet:93172 Orphanet:93108 renal dysplasia MONDO:0019645 renal dysplasia, bilateral MONDO:0019638 Orphanet:93173 Orphanet:93108 renal dysplasia MONDO:0019646 unilateral congenital megacalycosis MONDO:0019639 Orphanet:93176 Orphanet:93109 congenital megacalycosis MONDO:0019647 congenital bilateral megacalycosis MONDO:0019639 Orphanet:93177 Orphanet:93109 congenital megacalycosis MONDO:0019648 achondrogenesis MONDO:0019694 Orphanet:932 Orphanet:93434 spondylodysplastic dysplasia MONDO:0019659 Pfeiffer syndrome type 1 MONDO:0007043 Orphanet:93258 Orphanet:710 Pfeiffer syndrome MONDO:0019660 Pfeiffer syndrome type 2 MONDO:0007043 Orphanet:93259 Orphanet:710 Pfeiffer syndrome MONDO:0019661 Pfeiffer syndrome type 3 MONDO:0007043 Orphanet:93260 Orphanet:710 Pfeiffer syndrome MONDO:0019662 short rib-polydactyly syndrome, Majewski type MONDO:0015461 Orphanet:93269 Orphanet:1505 short rib-polydactyly syndrome MONDO:0019665 monostotic fibrous dysplasia MONDO:0000845 Orphanet:93277 Orphanet:249 fibrous dysplasia MONDO:0019669 hypochondrogenesis MONDO:0019648 Orphanet:93297 Orphanet:932 achondrogenesis MONDO:0019669 hypochondrogenesis MONDO:0022800 Orphanet:93297 Orphanet:93421 type 2 collagenopathy MONDO:0019670 ulnar hemimelia MONDO:0016240 Orphanet:93320 Orphanet:2130 hemimelia MONDO:0019671 radial hemimelia MONDO:0016240 Orphanet:93321 Orphanet:2130 hemimelia MONDO:0019672 fibular hemimelia MONDO:0016240 Orphanet:93323 Orphanet:2130 hemimelia MONDO:0019681 juvenile sialidosis type 2 MONDO:0009738 Orphanet:93399 Orphanet:87876 sialidosis type 2 MONDO:0019682 congenital sialidosis type 2 MONDO:0009738 Orphanet:93400 Orphanet:87876 sialidosis type 2 MONDO:0019691 short rib dysplasia MONDO:0018230 Orphanet:93426 Orphanet:364526 skeletal dysplasia MONDO:0019694 spondylodysplastic dysplasia MONDO:0018230 Orphanet:93434 Orphanet:364526 skeletal dysplasia MONDO:0019695 acromelic dysplasia MONDO:0018230 Orphanet:93436 Orphanet:364526 skeletal dysplasia MONDO:0019698 bent bone dysplasia MONDO:0018230 Orphanet:93439 Orphanet:364526 skeletal dysplasia MONDO:0019701 chondrodysplasia punctata MONDO:0018230 Orphanet:93442 Orphanet:364526 skeletal dysplasia MONDO:0019707 primary osteolysis MONDO:0018230 Orphanet:93449 Orphanet:364526 skeletal dysplasia MONDO:0019719 congenital anomaly of kidney and urinary tract MONDO:0019755 Orphanet:93545 Orphanet:93890 developmental defect during embryogenesis MONDO:0019726 type II mixed cryoglobulinemia MONDO:0007407 Orphanet:93554 Orphanet:91138 Cryoglobulinemic vasculitis MONDO:0019727 mixed cryoglobulinemia type III MONDO:0007407 Orphanet:93555 Orphanet:91138 Cryoglobulinemic vasculitis MONDO:0019728 heavy chain deposition disease MONDO:0019463 Orphanet:93556 Orphanet:86861 non-amyloid monoclonal immunoglobulin deposition disease MONDO:0019729 light and heavy chain deposition disease MONDO:0019463 Orphanet:93557 Orphanet:86861 non-amyloid monoclonal immunoglobulin deposition disease MONDO:0019730 light chain deposition disease MONDO:0019463 Orphanet:93558 Orphanet:86861 non-amyloid monoclonal immunoglobulin deposition disease MONDO:0019731 AApoAI amyloidosis MONDO:0007099 Orphanet:93560 Orphanet:85450 familial visceral amyloidosis MONDO:0019732 ALys amyloidosis MONDO:0007099 Orphanet:93561 Orphanet:85450 familial visceral amyloidosis MONDO:0019733 AFib amyloidosis MONDO:0007099 Orphanet:93562 Orphanet:85450 familial visceral amyloidosis MONDO:0019734 juvenile polymyositis MONDO:0018010 Orphanet:93568 Orphanet:329888 juvenile idiopathic inflammatory myopathy MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies MONDO:0016244 Orphanet:93581 Orphanet:2134 atypical hemolytic-uremic syndrome MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:0018896 Orphanet:93585 Orphanet:54057 thrombotic thrombocytopenic purpura MONDO:0019742 late-onset nephronophthisis MONDO:0019005 Orphanet:93589 Orphanet:655 nephronophthisis MONDO:0019745 cystinuria type A MONDO:0009067 Orphanet:93612 Orphanet:214 cystinuria MONDO:0019746 cystinuria type B MONDO:0009067 Orphanet:93613 Orphanet:214 cystinuria MONDO:0019753 localized Castleman disease MONDO:0015564 Orphanet:93685 Orphanet:160 Castleman disease MONDO:0019754 multicentric Castleman disease MONDO:0015157 Orphanet:570438 Orphanet:102024 human herpesvirus 8-related tumor MONDO:0019754 multicentric Castleman disease MONDO:0015564 Orphanet:570438 Orphanet:160 Castleman disease MONDO:0019756 lobar holoprosencephaly MONDO:0016296 Orphanet:93924 Orphanet:2162 holoprosencephaly MONDO:0019757 alobar holoprosencephaly MONDO:0016296 Orphanet:93925 Orphanet:2162 holoprosencephaly MONDO:0019759 epispadias MONDO:0017919 Orphanet:93928 Orphanet:322 exstrophy-epispadias complex MONDO:0019761 laryngotracheoesophageal cleft type 1 MONDO:0016060 Orphanet:93938 Orphanet:2004 laryngotracheoesophageal cleft MONDO:0019762 laryngotracheoesophageal cleft type 2 MONDO:0016060 Orphanet:93939 Orphanet:2004 laryngotracheoesophageal cleft MONDO:0019763 laryngotracheoesophageal cleft type 3 MONDO:0016060 Orphanet:93940 Orphanet:2004 laryngotracheoesophageal cleft MONDO:0019764 laryngotracheoesophageal cleft type 4 MONDO:0016060 Orphanet:93941 Orphanet:2004 laryngotracheoesophageal cleft MONDO:0019766 X-linked intellectual disability, Porteous type MONDO:0010653 Orphanet:93945 Orphanet:3242 Renpenning syndrome MONDO:0019767 hamel cerebro-palato-cardiac syndrome MONDO:0010653 Orphanet:93946 Orphanet:3242 Renpenning syndrome MONDO:0019768 X-linked intellectual disability, Golabi-Ito-hall type MONDO:0010653 Orphanet:93947 Orphanet:3242 Renpenning syndrome MONDO:0019769 X-linked intellectual disability, Sutherland-Haan type MONDO:0010653 Orphanet:93950 Orphanet:3242 Renpenning syndrome MONDO:0019771 oromandibular dystonia MONDO:0015990 Orphanet:93958 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0019772 blepharospasm-oromandibular dystonia syndrome MONDO:0015990 Orphanet:93964 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0019784 12q14 microdeletion syndrome MONDO:0016877 Orphanet:94063 Orphanet:261821 partial deletion of the long arm of chromosome 12 MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO:0015159 Orphanet:94066 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019789 cytophagic histiocytic panniculitis MONDO:0019296 Orphanet:94087 Orphanet:79382 subcutaneous tissue disorder MONDO:0019791 recessive mitochondrial ataxia syndrome MONDO:0016798 Orphanet:94125 Orphanet:254818 ataxia neuropathy spectrum MONDO:0019791 recessive mitochondrial ataxia syndrome MONDO:0020044 Orphanet:94125 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia MONDO:0019792 autosomal dominant cerebellar ataxia type I MONDO:0020380 Orphanet:94145 Orphanet:99 autosomal dominant cerebellar ataxia MONDO:0019793 autosomal dominant cerebellar ataxia type III MONDO:0020380 Orphanet:94148 Orphanet:99 autosomal dominant cerebellar ataxia MONDO:0019794 autosomal dominant cerebellar ataxia type IV MONDO:0020380 Orphanet:94149 Orphanet:99 autosomal dominant cerebellar ataxia MONDO:0019797 acrodysostosis MONDO:0015483 Orphanet:950 Orphanet:155899 mandibulofacial dysostosis MONDO:0019797 acrodysostosis MONDO:0019695 Orphanet:950 Orphanet:93436 acromelic dysplasia MONDO:0019801 acute adrenal insufficiency MONDO:0015128 Orphanet:95409 Orphanet:101958 primary adrenal insufficiency MONDO:0019802 secondary short bowel syndrome MONDO:0015183 Orphanet:95427 Orphanet:104008 short bowel syndrome MONDO:0019803 angioma serpiginosum MONDO:0016231 Orphanet:95429 Orphanet:211247 capillary malformation MONDO:0019803 angioma serpiginosum MONDO:0019293 Orphanet:95429 Orphanet:79379 skin vascular disease MONDO:0019808 aortic valve atresia MONDO:0017735 Orphanet:95448 Orphanet:3093 congenital aortic valve stenosis MONDO:0019810 toxic epidermal necrolysis MONDO:0017396 Orphanet:95455 Orphanet:293815 toxic dermatosis MONDO:0019811 tricuspid valve agenesis MONDO:0020289 Orphanet:95457 Orphanet:98721 congenital tricuspid malformation MONDO:0019813 congenital tricuspid stenosis MONDO:0020289 Orphanet:95459 Orphanet:98721 congenital tricuspid malformation MONDO:0019814 straddling or overriding tricuspid valve MONDO:0020289 Orphanet:95461 Orphanet:98721 congenital tricuspid malformation MONDO:0019815 accessory tricuspid valve tissue MONDO:0020289 Orphanet:95462 Orphanet:98721 congenital tricuspid malformation MONDO:0019817 congenital mitral valve insufficiency and/or stenosis MONDO:0016582 Orphanet:95464 Orphanet:2447 congenital mitral malformation MONDO:0019818 cleft mitral valve MONDO:0016582 Orphanet:95465 Orphanet:2447 congenital mitral malformation MONDO:0019819 double-orifice mitral valve MONDO:0019818 Orphanet:95474 Orphanet:95465 cleft mitral valve MONDO:0019820 univentricular cardiopathy MONDO:0019512 Orphanet:95483 Orphanet:88991 congenital heart malformation MONDO:0019824 non-acquired pituitary hormone deficiency MONDO:0015127 Orphanet:95488 Orphanet:101957 pituitary deficiency MONDO:0019824 non-acquired pituitary hormone deficiency MONDO:0015514 Orphanet:95488 Orphanet:156643 hereditary endocrine growth disease MONDO:0019825 congenital coronary artery aneurysm MONDO:0015203 Orphanet:95491 Orphanet:1081 coronary artery congenital malformation MONDO:0019828 pituitary stalk interruption syndrome MONDO:0019824 Orphanet:95496 Orphanet:95488 non-acquired pituitary hormone deficiency MONDO:0019832 acquired pituitary hormone deficiency MONDO:0015127 Orphanet:95502 Orphanet:101957 pituitary deficiency MONDO:0019835 primary hypophysitis MONDO:0019832 Orphanet:95506 Orphanet:95502 acquired pituitary hormone deficiency MONDO:0019838 adenohypophysitis MONDO:0019835 Orphanet:95512 Orphanet:95506 primary hypophysitis MONDO:0019839 panhypophysitis MONDO:0019835 Orphanet:95513 Orphanet:95506 primary hypophysitis MONDO:0019845 iatrogenic or traumatic pituitary deficiency MONDO:0019832 Orphanet:95619 Orphanet:95502 acquired pituitary hormone deficiency MONDO:0019846 acquired central diabetes insipidus MONDO:0015790 Orphanet:95626 Orphanet:178029 central diabetes insipidus MONDO:0019857 congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies MONDO:0016555 Orphanet:95715 Orphanet:238696 transient congenital hypothyroidism due to maternal factor MONDO:0019862 levocardia MONDO:0018677 Orphanet:95854 Orphanet:450 visceral heterotaxy MONDO:0019870 distal trisomy 1p36 MONDO:0017012 Orphanet:96069 Orphanet:264431 partial duplication of the short arm of chromosome 1 MONDO:0019871 distal trisomy 2p MONDO:0016939 Orphanet:96070 Orphanet:262698 partial duplication of the short arm of chromosome 2 MONDO:0019872 distal trisomy 3p MONDO:0016940 Orphanet:96071 Orphanet:262707 partial duplication of the short arm of chromosome 3 MONDO:0019873 4p16.3 microduplication syndrome MONDO:0016941 Orphanet:96072 Orphanet:262716 partial duplication of the short arm of chromosome 4 MONDO:0019874 distal trisomy 7p MONDO:0016944 Orphanet:96074 Orphanet:262749 partial duplication of the short arm of chromosome 7 MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication MONDO:0007534 Orphanet:96076 Orphanet:116 Beckwith-Wiedemann syndrome MONDO:0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication MONDO:0016948 Orphanet:96076 Orphanet:262785 partial duplication of the short arm of chromosome 11 MONDO:0019877 distal trisomy 2q MONDO:0016953 Orphanet:96094 Orphanet:262842 partial duplication of the long arm of chromosome 2 MONDO:0019878 3q26 microduplication syndrome MONDO:0016954 Orphanet:96095 Orphanet:262851 partial duplication of the long arm of chromosome 3 MONDO:0019879 distal trisomy 4q MONDO:0016955 Orphanet:96096 Orphanet:262860 partial duplication of the long arm of chromosome 4 MONDO:0019880 distal trisomy 5q MONDO:0016956 Orphanet:96097 Orphanet:262869 partial trisomy of the long arm of chromosome 5 MONDO:0019881 distal trisomy 6q MONDO:0016957 Orphanet:96098 Orphanet:262878 partial duplication of the long arm of chromosome 6 MONDO:0019882 distal trisomy 8q MONDO:0016959 Orphanet:96100 Orphanet:262896 partial duplication of the long arm of chromosome 8 MONDO:0019883 distal trisomy 9q MONDO:0016960 Orphanet:96101 Orphanet:262905 partial trisomy of the long arm of chromosome 9 MONDO:0019884 distal trisomy 10q MONDO:0016961 Orphanet:96102 Orphanet:262914 partial duplication of the long arm of chromosome 10 MONDO:0019885 distal trisomy 11q MONDO:0022173 Orphanet:96103 Orphanet:262923 chromosome 11q trisomy MONDO:0019886 distal trisomy 13q MONDO:0022177 Orphanet:96105 Orphanet:262932 chromosome 13q trisomy MONDO:0019887 distal trisomy 16q MONDO:0016966 Orphanet:96106 Orphanet:262959 partial trisomy of the long arm of chromosome 16 MONDO:0019888 distal trisomy 20q MONDO:0016970 Orphanet:96107 Orphanet:262995 partial trisomy of the long arm of chromosome 20 MONDO:0019889 distal trisomy 22q MONDO:0016972 Orphanet:96109 Orphanet:263004 partial duplication of the long arm of chromosome 22 MONDO:0019890 non-distal trisomy 9q MONDO:0016960 Orphanet:96112 Orphanet:262905 partial trisomy of the long arm of chromosome 9 MONDO:0019892 distal monosomy 7p MONDO:0016889 Orphanet:96126 Orphanet:261911 partial deletion of the short arm of chromosome 7 MONDO:0019893 distal monosomy 19p13.3 MONDO:0016897 Orphanet:96129 Orphanet:261983 partial deletion of the short arm of chromosome 19 MONDO:0019895 distal monosomy 4q MONDO:0016903 Orphanet:96145 Orphanet:262029 partial deletion of the long arm of chromosome 4 MONDO:0019896 Kleefstra syndrome due to 9q34 microdeletion MONDO:0016908 Orphanet:96147 Orphanet:262074 partial monosomy of the long arm of chromosome 9 MONDO:0019897 distal monosomy 12q MONDO:0016877 Orphanet:96149 Orphanet:261821 partial deletion of the long arm of chromosome 12 MONDO:0019898 distal monosomy 14q MONDO:0016912 Orphanet:96150 Orphanet:262110 partial deletion of the long arm of chromosome 14 MONDO:0019900 non-distal monosomy 12q MONDO:0016877 Orphanet:96160 Orphanet:261821 partial deletion of the long arm of chromosome 12 MONDO:0019902 monosomy 13q34 MONDO:0016911 Orphanet:96168 Orphanet:262101 partial deletion of the long arm of chromosome 13 MONDO:0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 MONDO:0008394 Orphanet:96182 Orphanet:813 Silver-Russell syndrome MONDO:0019915 maternal uniparental disomy of chromosome 14 MONDO:0014541 Orphanet:96184 Orphanet:254516 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO:0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 MONDO:0007534 Orphanet:96193 Orphanet:116 Beckwith-Wiedemann syndrome MONDO:0019926 X small rings MONDO:0019852 Orphanet:96201 Orphanet:95710 inherited primary ovarian failure MONDO:0019928 48,XXXY syndrome MONDO:0017975 Orphanet:96263 Orphanet:325546 sex chromosome disorder of sex development MONDO:0019929 49,XXXXY syndrome MONDO:0017975 Orphanet:96264 Orphanet:325546 sex chromosome disorder of sex development MONDO:0019934 polyploidy MONDO:0019040 Orphanet:96321 Orphanet:68335 chromosomal disorder MONDO:0019942 distal arthrogryposis MONDO:0015225 Orphanet:97120 Orphanet:109007 arthrogryposis syndrome MONDO:0019948 reducing body myopathy MONDO:0019952 Orphanet:97239 Orphanet:97245 congenital myopathy MONDO:0019950 congenital muscular dystrophy MONDO:0020121 Orphanet:97242 Orphanet:98473 muscular dystrophy MONDO:0019951 rigid spine syndrome MONDO:0016187 Orphanet:97244 Orphanet:209041 qualitative or quantitative defects of desmin MONDO:0019951 rigid spine syndrome MONDO:0016197 Orphanet:97244 Orphanet:209193 qualitative or quantitative defects of selenoprotein N1 MONDO:0019951 rigid spine syndrome MONDO:0019950 Orphanet:97244 Orphanet:97242 congenital muscular dystrophy MONDO:0019954 pancreatic neuroendocrine tumor MONDO:0005815 Orphanet:97253 Orphanet:506052 pancreatic neuroendocrine neoplasm MONDO:0019962 thyroid lymphoma MONDO:0017207 Orphanet:97285 Orphanet:279911 primary organ-specific lymphoma MONDO:0019964 thymic neuroendocrine tumor MONDO:0005197 Orphanet:97289 Orphanet:100100 thymus neoplasm MONDO:0019967 Kienbock disease MONDO:0018381 Orphanet:97332 Orphanet:399319 osteochondrosis MONDO:0019969 panner disease MONDO:0018381 Orphanet:97336 Orphanet:399319 osteochondrosis MONDO:0019970 Sinding-Larsen-Johansson disease MONDO:0018381 Orphanet:97337 Orphanet:399319 osteochondrosis MONDO:0019979 renal hypoplasia, unilateral MONDO:0019637 Orphanet:97361 Orphanet:93101 renal hypoplasia MONDO:0019980 renal hypoplasia, bilateral MONDO:0019637 Orphanet:97362 Orphanet:93101 renal hypoplasia MONDO:0019981 unilateral multicystic dysplastic kidney MONDO:0015988 Orphanet:97363 Orphanet:1851 multicystic dysplastic kidney MONDO:0019982 bilateral multicystic dysplastic kidney MONDO:0015988 Orphanet:97364 Orphanet:1851 multicystic dysplastic kidney MONDO:0019984 renal tubular dysgenesis due to twin-twin transfusion MONDO:0017609 Orphanet:97367 Orphanet:3033 renal tubular dysgenesis MONDO:0019985 drug-related renal tubular dysgenesis MONDO:0017609 Orphanet:97368 Orphanet:3033 renal tubular dysgenesis MONDO:0019988 pauci-immune glomerulonephritis with ANCA MONDO:0019641 Orphanet:97563 Orphanet:93126 Pauci-immune glomerulonephritis MONDO:0019989 pauci-immune glomerulonephritis without ANCA MONDO:0019641 Orphanet:97564 Orphanet:93126 Pauci-immune glomerulonephritis MONDO:0019990 non-amyloid fibrillary glomerulopathy MONDO:0019605 Orphanet:97566 Orphanet:91137 immunotactoid or fibrillary glomerulopathy MONDO:0019991 immunotactoid glomerulopathy MONDO:0019605 Orphanet:97567 Orphanet:91137 immunotactoid or fibrillary glomerulopathy MONDO:0019992 pseudohypoparathyroidism MONDO:0015327 Orphanet:97593 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0019992 pseudohypoparathyroidism MONDO:0015962 Orphanet:97593 Orphanet:183592 inherited renal tubular disease MONDO:0019992 pseudohypoparathyroidism MONDO:0016165 Orphanet:97593 Orphanet:208593 hereditary hypoparathyroidism MONDO:0020022 central nervous system malformation MONDO:0019755 Orphanet:98044 Orphanet:93890 developmental defect during embryogenesis MONDO:0020040 46,XY disorder of sex development MONDO:0002145 Orphanet:98085 Orphanet:90771 disorder of sexual differentiation MONDO:0020043 autosomal recessive congenital cerebellar ataxia MONDO:0015244 Orphanet:98095 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0020044 autosomal recessive metabolic cerebellar ataxia MONDO:0015244 Orphanet:98096 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0020046 autosomal recessive degenerative and progressive cerebellar ataxia MONDO:0015244 Orphanet:98098 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0020047 autosomal recessive syndromic cerebellar ataxia MONDO:0015244 Orphanet:98099 Orphanet:1172 autosomal recessive cerebellar ataxia MONDO:0020049 autosomal anomaly MONDO:0019040 Orphanet:98127 Orphanet:68335 chromosomal disorder MONDO:0020058 gonosome anomaly MONDO:0019040 Orphanet:98155 Orphanet:68335 chromosomal disorder MONDO:0020064 pulmonary valve agenesis MONDO:0016581 Orphanet:982 Orphanet:2445 conotruncal heart malformations MONDO:0020065 combined dystonia MONDO:0044807 Orphanet:98203 Orphanet:391799 inherited dystonia MONDO:0020070 neonatal epilepsy syndrome MONDO:0015650 Orphanet:98257 Orphanet:166463 epilepsy syndrome MONDO:0020071 infantile epilepsy syndrome MONDO:0015650 Orphanet:98258 Orphanet:166463 epilepsy syndrome MONDO:0020072 childhood-onset epilepsy syndrome MONDO:0015650 Orphanet:98259 Orphanet:166463 epilepsy syndrome MONDO:0020076 myeloproliferative neoplasm MONDO:0015756 Orphanet:98274 Orphanet:171895 myeloid hemopathy MONDO:0020077 myelodysplastic/myeloproliferative disease MONDO:0015756 Orphanet:98275 Orphanet:171895 myeloid hemopathy MONDO:0020082 dendritic cell tumor MONDO:0006247 Orphanet:98289 Orphanet:98287 histiocytic and dendritic cell neoplasm MONDO:0020083 immunodeficiency-associated lymphoproliferative disease MONDO:0015757 Orphanet:98290 Orphanet:171898 lymphoid hemopathy MONDO:0020088 familial partial lipodystrophy MONDO:0020087 Orphanet:98306 Orphanet:98305 hereditary lipodystrophy MONDO:0020099 inherited sideroblastic anemia MONDO:0015194 Orphanet:98362 Orphanet:1047 sideroblastic anemia MONDO:0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia MONDO:0016624 Orphanet:98415 Orphanet:248296 hereditary anemia MONDO:0020113 primary acquired red cell aplasia MONDO:0015610 Orphanet:98421 Orphanet:164823 acquired aplastic anemia MONDO:0020115 secondary polycythemia MONDO:0005571 Orphanet:98428 Orphanet:98427 polycythemia MONDO:0020122 acquired idiopathic inflammatory myopathy MONDO:0016105 Orphanet:98482 Orphanet:206638 acquired skeletal muscle disease MONDO:0020124 neuromuscular junction disease MONDO:0019056 Orphanet:98491 Orphanet:68381 neuromuscular disease MONDO:0020128 motor neuron disorder MONDO:0019056 Orphanet:98503 Orphanet:68381 neuromuscular disease MONDO:0020129 acquired motor neuron disease MONDO:0020128 Orphanet:98506 Orphanet:98503 motor neuron disorder MONDO:0020212 superficial corneal dystrophy MONDO:0018102 Orphanet:98625 Orphanet:34533 corneal dystrophy MONDO:0020213 stromal corneal dystrophy MONDO:0018102 Orphanet:98626 Orphanet:34533 corneal dystrophy MONDO:0020214 posterior corneal dystrophy MONDO:0018102 Orphanet:98627 Orphanet:34533 corneal dystrophy MONDO:0020250 autosomal dominant optic atrophy MONDO:0020249 Orphanet:98672 Orphanet:98671 hereditary optic neuropathy MONDO:0020291 hypoplastic right heart syndrome MONDO:0019820 Orphanet:98723 Orphanet:95483 univentricular cardiopathy MONDO:0020292 congenital anomaly of the great arteries MONDO:0019512 Orphanet:98724 Orphanet:88991 congenital heart malformation MONDO:0020297 Noonan syndrome and Noonan-related syndrome MONDO:0021060 Orphanet:98733 Orphanet:536391 RASopathy MONDO:0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 MONDO:0008300 Orphanet:98754 Orphanet:739 Prader-Willi syndrome MONDO:0020300 autosomal dominant nocturnal frontal lobe epilepsy MONDO:0017704 Orphanet:98784 Orphanet:309 familial partial epilepsy MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion MONDO:0008300 Orphanet:98793 Orphanet:739 Prader-Willi syndrome MONDO:0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion MONDO:0016913 Orphanet:98793 Orphanet:262119 partial deletion of the long arm of chromosome 15 MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion MONDO:0007113 Orphanet:98794 Orphanet:72 Angelman syndrome MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion MONDO:0016913 Orphanet:98794 Orphanet:262119 partial deletion of the long arm of chromosome 15 MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:0007113 Orphanet:98795 Orphanet:72 Angelman syndrome MONDO:0020304 isochromosomy Yp MONDO:0019935 Orphanet:98797 Orphanet:96325 isochromosome Y MONDO:0020305 isochromosomy Yq MONDO:0019935 Orphanet:98798 Orphanet:96325 isochromosome Y MONDO:0020307 self-limited epilepsy with autonomic seizures MONDO:0007558 Orphanet:98815 Orphanet:25968 self-limited childhood occipital epilepsy MONDO:0020308 childhood occipital visual epilepsy MONDO:0007558 Orphanet:98816 Orphanet:25968 self-limited childhood occipital epilepsy MONDO:0020310 familial focal epilepsy with variable foci MONDO:0017704 Orphanet:98820 Orphanet:309 familial partial epilepsy MONDO:0020311 chronic myelomonocytic leukemia MONDO:0020077 Orphanet:98823 Orphanet:98275 myelodysplastic/myeloproliferative disease MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0015667 Orphanet:98834 Orphanet:167714 acute myeloid leukemia by FAB classification MONDO:0020321 acute undifferentiated leukemia MONDO:0019460 Orphanet:98835 Orphanet:86851 acute leukemia of ambiguous lineage MONDO:0020323 primary mediastinal large B-cell lymphoma MONDO:0018905 Orphanet:98838 Orphanet:544 diffuse large B-cell lymphoma MONDO:0020324 intravascular large B-cell lymphoma MONDO:0018905 Orphanet:98839 Orphanet:544 diffuse large B-cell lymphoma MONDO:0020326 lymphomatoid papulosis MONDO:0018897 Orphanet:98842 Orphanet:541 primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO:0020331 indolent systemic mastocytosis MONDO:0016586 Orphanet:98848 Orphanet:2467 systemic mastocytosis MONDO:0020332 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease MONDO:0016586 Orphanet:98849 Orphanet:2467 systemic mastocytosis MONDO:0020333 aggressive systemic mastocytosis MONDO:0016586 Orphanet:98850 Orphanet:2467 systemic mastocytosis MONDO:0020334 mast cell leukemia MONDO:0016586 Orphanet:98851 Orphanet:2467 systemic mastocytosis MONDO:0020336 autosomal dominant Emery-Dreifuss muscular dystrophy MONDO:0016830 Orphanet:98853 Orphanet:261 Emery-Dreifuss muscular dystrophy MONDO:0020337 congenital dyserythropoietic anemia type 1 MONDO:0019403 Orphanet:98869 Orphanet:85 congenital dyserythropoietic anemia MONDO:0020338 adult pure red cell aplasia MONDO:0020113 Orphanet:98872 Orphanet:98421 primary acquired red cell aplasia MONDO:0020340 bilateral perisylvian polymicrogyria MONDO:0017091 Orphanet:98889 Orphanet:268940 bilateral polymicrogyria MONDO:0020341 periventricular nodular heterotopia MONDO:0016292 Orphanet:98892 Orphanet:2149 nodular neuronal heterotopia MONDO:0020344 postsynaptic congenital myasthenic syndrome MONDO:0018940 Orphanet:98913 Orphanet:590 congenital myasthenic syndrome MONDO:0020347 acute inflammatory demyelinating polyradiculoneuropathy MONDO:0016218 Orphanet:98916 Orphanet:2103 Guillain-Barre syndrome MONDO:0020348 acute motor and sensory axonal neuropathy MONDO:0016218 Orphanet:98917 Orphanet:2103 Guillain-Barre syndrome MONDO:0020349 acute motor axonal neuropathy MONDO:0016218 Orphanet:98918 Orphanet:2103 Guillain-Barre syndrome MONDO:0020352 multiple system atrophy, parkinsonian type MONDO:0007803 Orphanet:98933 Orphanet:102 multiple system atrophy MONDO:0020359 congenital symblepharon MONDO:0007410 Orphanet:98948 Orphanet:91396 isolated cryptophthalmia MONDO:0020360 complete cryptophthalmia MONDO:0007410 Orphanet:98949 Orphanet:91396 isolated cryptophthalmia MONDO:0020361 partial cryptophthalmia MONDO:0007410 Orphanet:98950 Orphanet:91396 isolated cryptophthalmia MONDO:0020362 inverse Marcus-Gunn phenomenon MONDO:0007946 Orphanet:98951 Orphanet:91412 jaw-winking syndrome MONDO:0020363 honey-droplet corneal dystrophy MONDO:0020212 Orphanet:98958 Orphanet:98625 superficial corneal dystrophy MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0020214 Orphanet:98973 Orphanet:98627 posterior corneal dystrophy MONDO:0020369 Chandler syndrome MONDO:0018988 Orphanet:98979 Orphanet:64734 iridocorneal endothelial syndrome MONDO:0020370 Cogan-Reese syndrome MONDO:0018988 Orphanet:98980 Orphanet:64734 iridocorneal endothelial syndrome MONDO:0020371 essential iris atrophy MONDO:0018988 Orphanet:98981 Orphanet:64734 iridocorneal endothelial syndrome MONDO:0020372 early-onset sutural cataract MONDO:0020379 Orphanet:98985 Orphanet:98995 early-onset zonular cataract MONDO:0020373 early-onset anterior polar cataract MONDO:0020377 Orphanet:98988 Orphanet:98992 early-onset partial cataract MONDO:0020374 cerulean cataract MONDO:0020377 Orphanet:98989 Orphanet:98992 early-onset partial cataract MONDO:0020376 early-onset nuclear cataract MONDO:0020379 Orphanet:98991 Orphanet:98995 early-onset zonular cataract MONDO:0020377 early-onset partial cataract MONDO:0011060 Orphanet:98992 Orphanet:91492 early-onset non-syndromic cataract MONDO:0020379 early-onset zonular cataract MONDO:0020377 Orphanet:98995 Orphanet:98992 early-onset partial cataract MONDO:0020382 multifocal pattern dystrophy simulating fundus flavimaculatus MONDO:0018973 Orphanet:99003 Orphanet:63454 patterned dystrophy of the retinal pigment epithelium MONDO:0020383 fundus pulverulentus MONDO:0018973 Orphanet:99004 Orphanet:63454 patterned dystrophy of the retinal pigment epithelium MONDO:0020385 congenitally uncorrected transposition of the great arteries with coarctation MONDO:0019443 Orphanet:99042 Orphanet:860 dextro-looped transposition of the great arteries MONDO:0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis MONDO:0018089 Orphanet:99043 Orphanet:3426 double outlet right ventricle MONDO:0020387 double outlet right ventricle with subpulmonary ventricular septal defect MONDO:0018089 Orphanet:99045 Orphanet:3426 double outlet right ventricle MONDO:0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect MONDO:0018089 Orphanet:99046 Orphanet:3426 double outlet right ventricle MONDO:0020389 pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome MONDO:0020064 Orphanet:99048 Orphanet:982 pulmonary valve agenesis MONDO:0020390 pulmonary artery coming from patent ductus arteriosus MONDO:0015239 Orphanet:99049 Orphanet:1138 abnormal origin of the pulmonary artery MONDO:0020391 pulmonary artery coming from the aorta MONDO:0015239 Orphanet:99050 Orphanet:1138 abnormal origin of the pulmonary artery MONDO:0020393 discrete fibromuscular subaortic stenosis MONDO:0017727 Orphanet:99052 Orphanet:3092 fixed subaortic stenosis MONDO:0020394 tunnel subaortic stenosis MONDO:0017727 Orphanet:99053 Orphanet:3092 fixed subaortic stenosis MONDO:0020395 valvar pulmonary stenosis MONDO:0017865 Orphanet:99054 Orphanet:3189 congenital pulmonary valve stenosis MONDO:0020398 congenital mitral stenosis MONDO:0019817 Orphanet:99057 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0020399 congenital hypoplasia of the mitral valve annulus MONDO:0019817 Orphanet:99058 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0020400 congenital supravalvular mitral ring MONDO:0019817 Orphanet:99059 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0020401 congenital unguarded mitral orifice MONDO:0019817 Orphanet:99060 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0020402 congenital accessory mitral valve tissue MONDO:0019817 Orphanet:99061 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0020403 congenital mitral valve agenesis MONDO:0019817 Orphanet:99062 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0020404 shone complex MONDO:0019817 Orphanet:99063 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis MONDO:0020405 straddling and/or overriding mitral valve MONDO:0019818 Orphanet:99064 Orphanet:95465 cleft mitral valve MONDO:0020407 complete atrioventricular canal-ventricle hypoplasia syndrome MONDO:0015273 Orphanet:99067 Orphanet:1329 complete atrioventricular canal MONDO:0020408 complete atrioventricular canal-tetralogy of fallot syndrome MONDO:0015273 Orphanet:99068 Orphanet:1329 complete atrioventricular canal MONDO:0020410 aorto-right ventricular tunnel MONDO:0018082 Orphanet:99070 Orphanet:3400 aorto-ventricular tunnel MONDO:0020411 aorto-left ventricular tunnel MONDO:0018082 Orphanet:99071 Orphanet:3400 aorto-ventricular tunnel MONDO:0020413 encircling double aortic arch MONDO:0015236 Orphanet:99075 Orphanet:1132 aortic arch defects MONDO:0020414 persistent fifth aortic arch MONDO:0015236 Orphanet:99076 Orphanet:1132 aortic arch defects MONDO:0020415 Kommerell diverticulum MONDO:0015236 Orphanet:99077 Orphanet:1132 aortic arch defects MONDO:0020416 Neuhauser anomaly MONDO:0015236 Orphanet:99078 Orphanet:1132 aortic arch defects MONDO:0020417 right aortic arch MONDO:0015236 Orphanet:99081 Orphanet:1132 aortic arch defects MONDO:0020418 dysphagia lusoria MONDO:0015236 Orphanet:99082 Orphanet:1132 aortic arch defects MONDO:0020428 congenital Gerbode defect MONDO:0019512 Orphanet:99095 Orphanet:88991 congenital heart malformation MONDO:0020429 cor triatriatum dexter MONDO:0015450 Orphanet:99098 Orphanet:1463 triatrial heart MONDO:0020430 cor triatriatum sinister MONDO:0015450 Orphanet:99099 Orphanet:1463 triatrial heart MONDO:0020434 atrial septal defect, ostium secundum type MONDO:0006664 Orphanet:99103 Orphanet:1478 atrial septal defect MONDO:0020435 atrial septal defect, coronary sinus type MONDO:0006664 Orphanet:99104 Orphanet:1478 atrial septal defect MONDO:0020436 atrial septal defect, sinus venosus type MONDO:0006664 Orphanet:99105 Orphanet:1478 atrial septal defect MONDO:0020437 atrial septal defect, ostium primum type MONDO:0006664 Orphanet:99106 Orphanet:1478 atrial septal defect MONDO:0020440 persistent left superior vena cava connecting to the left-sided atrium MONDO:0019829 Orphanet:99109 Orphanet:95498 congenital anomaly of superior vena cava MONDO:0020441 right superior vena cava connecting to left-sided atrium MONDO:0019829 Orphanet:99110 Orphanet:95498 congenital anomaly of superior vena cava MONDO:0020442 left superior vena cava persisting to left-sided atrium MONDO:0019829 Orphanet:99111 Orphanet:95498 congenital anomaly of superior vena cava MONDO:0020443 absence of innominate vein MONDO:0019829 Orphanet:99112 Orphanet:95498 congenital anomaly of superior vena cava MONDO:0020444 subaortic course of innominate vein MONDO:0019829 Orphanet:99113 Orphanet:95498 congenital anomaly of superior vena cava MONDO:0020445 agenesis of the superior vena cava MONDO:0019829 Orphanet:99114 Orphanet:95498 congenital anomaly of superior vena cava MONDO:0020448 right inferior vena cava connecting to left-sided atrium MONDO:0019830 Orphanet:99119 Orphanet:95499 congenital anomaly of the inferior vena cava MONDO:0020449 persistent eustachian valve MONDO:0019830 Orphanet:99120 Orphanet:95499 congenital anomaly of the inferior vena cava MONDO:0020450 azygos continuation of the inferior vena cava MONDO:0019830 Orphanet:99121 Orphanet:95499 congenital anomaly of the inferior vena cava MONDO:0020451 congenital stenosis of the inferior vena cava MONDO:0019830 Orphanet:99122 Orphanet:95499 congenital anomaly of the inferior vena cava MONDO:0020452 inferior vena cava interruption MONDO:0019830 Orphanet:99123 Orphanet:95499 congenital anomaly of the inferior vena cava MONDO:0020453 congenital partial pulmonary venous return anomaly MONDO:0017705 Orphanet:99124 Orphanet:3090 congenital pulmonary venous return anomaly MONDO:0020454 congenital complete agenesis of pericardium MONDO:0017300 Orphanet:99129 Orphanet:2846 congenital pericardium anomaly MONDO:0020455 congenital partial agenesis of pericardium MONDO:0017300 Orphanet:99130 Orphanet:2846 congenital pericardium anomaly MONDO:0020456 pleuro-pericardial cyst MONDO:0017300 Orphanet:99131 Orphanet:2846 congenital pericardium anomaly MONDO:0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction MONDO:0019236 Orphanet:99138 Orphanet:79191 inborn disorder of purine metabolism MONDO:0020459 unstable hemoglobin disease MONDO:0019050 Orphanet:99139 Orphanet:68364 inherited hemoglobinopathy MONDO:0020463 isolated congenital ectropion MONDO:0020161 Orphanet:99171 Orphanet:98570 congenital ectropion MONDO:0020466 monosomy X MONDO:0019499 Orphanet:99226 Orphanet:881 Turner syndrome MONDO:0020470 49,XYYYY syndrome MONDO:0015161 Orphanet:99330 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0020472 Turner syndrome due to structural X chromosome anomalies MONDO:0019499 Orphanet:99413 Orphanet:881 Turner syndrome MONDO:0020475 dermotrichic syndrome MONDO:0019287 Orphanet:99688 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0020476 mesial temporal lobe epilepsy with hippocampal sclerosis MONDO:0017704 Orphanet:99701 Orphanet:309 familial partial epilepsy MONDO:0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0019358 Orphanet:99732 Orphanet:833 encephalopathy due to sulfite oxidase deficiency MONDO:0020481 myotonia fluctuans MONDO:0018959 Orphanet:99734 Orphanet:612 potassium-aggravated myotonia MONDO:0020482 myotonia permanens MONDO:0018959 Orphanet:99735 Orphanet:612 potassium-aggravated myotonia MONDO:0020483 acetazolamide-responsive myotonia MONDO:0018959 Orphanet:99736 Orphanet:612 potassium-aggravated myotonia MONDO:0020487 Pontiac fever MONDO:0005823 Orphanet:99748 Orphanet:600832 legionellosis MONDO:0020488 atypical progressive supranuclear palsy syndrome MONDO:0019037 Orphanet:99750 Orphanet:683 progressive supranuclear palsy MONDO:0020494 oculootodental syndrome MONDO:0016910 Orphanet:99806 Orphanet:262092 partial deletion of the long arm of chromosome 11 MONDO:0020496 familial porencephaly MONDO:0017410 Orphanet:99810 Orphanet:2940 porencephaly MONDO:0020497 Turcot syndrome with polyposis MONDO:0021055 Orphanet:99818 Orphanet:733 classic familial adenomatous polyposis MONDO:0020500 Marburg hemorrhagic fever MONDO:0018087 Orphanet:99826 Orphanet:341 viral hemorrhagic fever MONDO:0020501 Crimean-Congo hemorrhagic fever MONDO:0018087 Orphanet:99827 Orphanet:341 viral hemorrhagic fever MONDO:0020505 ravine syndrome MONDO:0019046 Orphanet:99852 Orphanet:68356 leukodystrophy MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:0800448 Orphanet:99854 Orphanet:135 leukoencephalopathy with vanishing white matter MONDO:0020508 primary syringomyelia MONDO:0017987 Orphanet:99856 Orphanet:3280 syringomyelia MONDO:0020509 secondary syringomyelia MONDO:0017987 Orphanet:99857 Orphanet:3280 syringomyelia MONDO:0020510 idiopathic syringomyelia MONDO:0020508 Orphanet:99858 Orphanet:99856 primary syringomyelia MONDO:0020511 precursor B-cell acute lymphoblastic leukemia MONDO:0004967 Orphanet:99860 Orphanet:513 acute lymphoblastic leukemia MONDO:0020512 precursor T-cell acute lymphoblastic leukemia MONDO:0004967 Orphanet:99861 Orphanet:513 acute lymphoblastic leukemia MONDO:0020526 acute megakaryoblastic leukemia in down syndrome MONDO:0018872 Orphanet:99887 Orphanet:518 acute megakaryoblastic leukemia MONDO:0020527 ectopic Cushing syndrome MONDO:0020528 Orphanet:99889 Orphanet:99892 ACTH-dependent Cushing syndrome MONDO:0020532 spirillary rat-bite fever MONDO:0006941 Orphanet:99903 Orphanet:31205 rat-bite fever MONDO:0020533 streptobacillary rat-bite fever MONDO:0006941 Orphanet:99905 Orphanet:31205 rat-bite fever MONDO:0020538 malignant dysgerminomatous germ cell tumor of ovary MONDO:0018171 Orphanet:99912 Orphanet:35807 malignant germ cell tumor of ovary MONDO:0020539 extragonadal non-dysgerminomatous germ cell tumor MONDO:0018201 Orphanet:99913 Orphanet:363579 extragonadal germ cell tumor MONDO:0020541 maligant granulosa cell tumor of ovary MONDO:0018172 Orphanet:99915 Orphanet:35808 malignant sex cord stromal tumor of ovary MONDO:0020542 malignant Sertoli-Leydig cell tumor of ovary MONDO:0018172 Orphanet:99916 Orphanet:35808 malignant sex cord stromal tumor of ovary MONDO:0020543 theca steroid-producing cell malignant tumor of ovary, not further specified MONDO:0018172 Orphanet:99917 Orphanet:35808 malignant sex cord stromal tumor of ovary MONDO:0020544 streptococcal toxic-shock syndrome MONDO:0001881 Orphanet:99918 Orphanet:36234 toxic shock syndrome MONDO:0020545 staphylococcal toxic-shock syndrome MONDO:0001881 Orphanet:99919 Orphanet:36234 toxic shock syndrome MONDO:0020545 staphylococcal toxic-shock syndrome MONDO:0017592 Orphanet:99919 Orphanet:300579 staphylococcal toxemia MONDO:0020546 acute graft versus host disease MONDO:0013730 Orphanet:99920 Orphanet:39812 graft versus host disease MONDO:0020547 chronic graft versus host disease MONDO:0013730 Orphanet:99921 Orphanet:39812 graft versus host disease MONDO:0020549 invasive hydatidiform mole MONDO:0018944 Orphanet:99925 Orphanet:59305 gestational trophoblastic neoplasm MONDO:0020550 gestational choriocarcinoma MONDO:0018944 Orphanet:99926 Orphanet:59305 gestational trophoblastic neoplasm MONDO:0020552 placental site trophoblastic tumor MONDO:0018944 Orphanet:99928 Orphanet:59305 gestational trophoblastic neoplasm MONDO:0020555 pleuropulmonary blastoma type 1 MONDO:0011014 Orphanet:99933 Orphanet:64742 pleuropulmonary blastoma MONDO:0020556 pleuropulmonary blastoma type 2 MONDO:0011014 Orphanet:99934 Orphanet:64742 pleuropulmonary blastoma MONDO:0020557 pleuropulmonary blastoma type 3 MONDO:0011014 Orphanet:99935 Orphanet:64742 pleuropulmonary blastoma MONDO:0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K MONDO:0018993 Orphanet:99944 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0020561 myxoid/round cell liposarcoma MONDO:0005060 Orphanet:99967 Orphanet:69078 liposarcoma MONDO:0020562 pleomorphic liposarcoma MONDO:0005060 Orphanet:99969 Orphanet:69078 liposarcoma MONDO:0020563 dedifferentiated liposarcoma MONDO:0005060 Orphanet:99970 Orphanet:69078 liposarcoma MONDO:0020568 cutaneous myiasis MONDO:0019147 Orphanet:99983 Orphanet:75110 myiasis MONDO:0020571 relapsing epidemic typhus MONDO:0019362 Orphanet:99991 Orphanet:83314 epidemic louse-borne typhus MONDO:0020572 complex regional pain syndrome type 2 MONDO:0019369 Orphanet:99994 Orphanet:83452 complex regional pain syndrome MONDO:0020640 autoimmune encephalitis MONDO:0019956 Orphanet:622014 Orphanet:97275 encephalitis MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:0008803 Orphanet:596008 Orphanet:83 Antley-Bixler syndrome MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0017754 Orphanet:75563 Orphanet:309813 inborn disorder of porphyrin metabolism MONDO:0020721 X-linked sideroblastic anemia 1 MONDO:0020099 Orphanet:75563 Orphanet:98362 inherited sideroblastic anemia MONDO:0020726 tubulointerstitial kidney disease, autosomal dominant, 2 MONDO:0008264 Orphanet:88949 Orphanet:34149 autosomal dominant medullary cystic kidney disease with or without hyperuricemia MONDO:0020743 mixed phenotype acute leukemia MONDO:0019460 Orphanet:530995 Orphanet:86851 acute leukemia of ambiguous lineage MONDO:0020831 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0015161 Orphanet:521438 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) MONDO:0015151 Orphanet:34516 Orphanet:102014 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0021019 X-linked recessive ocular albinism MONDO:0017304 Orphanet:54 Orphanet:284804 ocular albinism MONDO:0021020 Crigler-Najjar syndrome type 1 MONDO:0009044 Orphanet:79234 Orphanet:205 Crigler-Najjar syndrome MONDO:0021022 hereditary hyperekplexia MONDO:0017658 Orphanet:3197 Orphanet:306773 hyperekplexia MONDO:0021022 hereditary hyperekplexia MONDO:0019253 Orphanet:3197 Orphanet:79219 metabolic disease involving other neurotransmitter deficiency MONDO:0021023 complete androgen insensitivity syndrome MONDO:0019154 Orphanet:99429 Orphanet:754 androgen insensitivity syndrome MONDO:0021029 hereditary sebaceous gland anomaly MONDO:0021026 Orphanet:183460 Orphanet:183447 hereditary epidermal appendage anomaly MONDO:0021172 Timothy syndrome, atypical type MONDO:0010979 Orphanet:595109 Orphanet:65283 Timothy syndrome MONDO:0021176 autoimmune hepatitis type 2 MONDO:0016264 Orphanet:563581 Orphanet:2137 autoimmune hepatitis MONDO:0021548 total early-onset cataract MONDO:0011060 Orphanet:98994 Orphanet:91492 early-onset non-syndromic cataract MONDO:0021636 astrocytic tumor MONDO:0021042 Orphanet:94 Orphanet:182067 glioma MONDO:0022173 chromosome 11q trisomy MONDO:0016932 Orphanet:262923 Orphanet:262653 partial duplication of chromosome 11 MONDO:0022174 chromosome 12p deletion MONDO:0017277 Orphanet:316244 Orphanet:282124 partial deletion of chromosome 12 MONDO:0022410 retinal ciliopathy MONDO:0005308 Orphanet:156165 Orphanet:363250 ciliopathy MONDO:0022513 atrophoderma of Pierini and Pasini MONDO:0021154 Orphanet:658810 Orphanet:79381 dermis disorder MONDO:0022754 chromosome 17p deletion MONDO:0016879 Orphanet:261965 Orphanet:261831 partial deletion of chromosome 17 MONDO:0022756 chromosome 1q deletion MONDO:0016866 Orphanet:262001 Orphanet:261766 partial deletion of chromosome 1 MONDO:0022762 chromosome 4 short arm deletion MONDO:0016869 Orphanet:261884 Orphanet:261781 partial deletion of chromosome 4 MONDO:0023188 Freiberg disease MONDO:0018381 Orphanet:564003 Orphanet:399319 osteochondrosis MONDO:0023206 functional pancreatic neuroendocrine tumor MONDO:0019954 Orphanet:506060 Orphanet:97253 pancreatic neuroendocrine tumor MONDO:0024257 hereditary motor neuron disease MONDO:0020128 Orphanet:98505 Orphanet:98503 motor neuron disorder MONDO:0024336 vulvar adenocarcinoma MONDO:0005215 Orphanet:494454 Orphanet:494418 vulvar carcinoma MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:0017998 Orphanet:35069 Orphanet:329303 PLA2G6-associated neurodegeneration MONDO:0024457 neurodegeneration with brain iron accumulation 2A MONDO:0020127 Orphanet:35069 Orphanet:98497 hereditary peripheral neuropathy MONDO:0024503 digestive system neuroendocrine neoplasm MONDO:0019496 Orphanet:100092 Orphanet:877 neuroendocrine neoplasm MONDO:0024537 Brown-Vialetto-van Laere syndrome 1 MONDO:0008891 Orphanet:572543 Orphanet:97229 riboflavin transporter deficiency MONDO:0024548 peeling skin syndrome 1 MONDO:0010033 Orphanet:263553 Orphanet:263543 generalized peeling skin syndrome MONDO:0024551 X-linked lymphoproliferative disease due to SH2D1A deficiency MONDO:0010627 Orphanet:538931 Orphanet:2442 X-linked lymphoproliferative syndrome MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability MONDO:0019950 Orphanet:662184 Orphanet:97242 congenital muscular dystrophy MONDO:0024609 vulvar squamous cell carcinoma MONDO:0005215 Orphanet:494448 Orphanet:494418 vulvar carcinoma MONDO:0025193 oculopharyngodistal myopathy MONDO:0016106 Orphanet:98897 Orphanet:206644 progressive muscular dystrophy MONDO:0028226 autosomal recessive severe congenital neutropenia MONDO:0018542 Orphanet:439849 Orphanet:42738 severe congenital neutropenia MONDO:0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 MONDO:0015151 Orphanet:565909 Orphanet:102014 muscular dystrophy, limb-girdle, autosomal dominant MONDO:0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 MONDO:0015152 Orphanet:565837 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0030105 galactosemia 4 MONDO:0018116 Orphanet:570422 Orphanet:352 galactosemia MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0020135 Orphanet:613274 Orphanet:98523 pontocerebellar hypoplasia MONDO:0030524 mucopolysaccharidosis, type 10 MONDO:0019249 Orphanet:662216 Orphanet:79213 mucopolysaccharidosis MONDO:0030899 oculocutaneous albinism type 8 MONDO:0018910 Orphanet:597733 Orphanet:55 oculocutaneous albinism MONDO:0030912 intellectual disability, autosomal dominant 47 MONDO:0015159 Orphanet:502434 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0030913 intellectual disability, autosomal dominant 48 MONDO:0015159 Orphanet:500159 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities MONDO:0024237 Orphanet:610573 Orphanet:183500 inherited neurodegenerative disorder MONDO:0032643 pontocerebellar hypoplasia, type 12 MONDO:0020135 Orphanet:611256 Orphanet:98523 pontocerebellar hypoplasia MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0017313 Orphanet:597874 Orphanet:285657 disorder of folate metabolism and transport MONDO:0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0019046 Orphanet:597874 Orphanet:68356 leukodystrophy MONDO:0032819 hypothyroidism, congenital, nongoitrous, 7 MONDO:0016410 Orphanet:99832 Orphanet:226298 central congenital hypothyroidism MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0020135 Orphanet:613267 Orphanet:98523 pontocerebellar hypoplasia MONDO:0032933 chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant MONDO:0017012 Orphanet:656279 Orphanet:264431 partial duplication of the short arm of chromosome 1 MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0017847 Orphanet:527497 Orphanet:316240 autosomal recessive spastic ataxia MONDO:0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0019046 Orphanet:527497 Orphanet:68356 leukodystrophy MONDO:0033203 nephrotic syndrome 14 MONDO:0018117 Orphanet:506334 Orphanet:352301 disorder of phospholipids, sphingolipids and fatty acids biosynthesis MONDO:0033282 multiple mitochondrial dysfunctions syndrome 5 MONDO:0017338 Orphanet:569274 Orphanet:289573 fatal multiple mitochondrial dysfunctions syndrome MONDO:0033480 spinocerebellar ataxia 45 MONDO:0019793 Orphanet:589527 Orphanet:94148 autosomal dominant cerebellar ataxia type III MONDO:0033481 spinocerebellar ataxia 46 MONDO:0019792 Orphanet:589522 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0033482 spinocerebellar ataxia 47 MONDO:0020380 Orphanet:642747 Orphanet:99 autosomal dominant cerebellar ataxia MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0015159 Orphanet:508533 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0015708 Orphanet:508533 Orphanet:169349 immuno-osseous dysplasia MONDO:0033682 skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome MONDO:0019694 Orphanet:508533 Orphanet:93434 spondylodysplastic dysplasia MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0015159 Orphanet:508542 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0015708 Orphanet:508542 Orphanet:169349 immuno-osseous dysplasia MONDO:0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome MONDO:0019453 Orphanet:508542 Orphanet:86836 myelodysplastic syndrome with multilineage dysplasia MONDO:0033717 congenital cerebellar ataxia due to RNU12 mutation MONDO:0020043 Orphanet:512260 Orphanet:98095 autosomal recessive congenital cerebellar ataxia MONDO:0033821 fungal keratitis MONDO:0023865 Orphanet:519930 Orphanet:519278 corneal infection MONDO:0033838 radiation-induced plexopathy MONDO:0015923 Orphanet:521123 Orphanet:182086 acquired peripheral neuropathy MONDO:0033838 radiation-induced plexopathy MONDO:0043459 Orphanet:521123 Orphanet:521132 radiation-induced disorder MONDO:0033850 autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect MONDO:0017762 Orphanet:521411 Orphanet:309839 disorder of copper metabolism MONDO:0033862 primary autoimmune enteropathy MONDO:0019787 Orphanet:522037 Orphanet:94075 autoimmune enteropathy MONDO:0033946 hereditary angioedema with C1Inh deficiency MONDO:0019623 Orphanet:528623 Orphanet:91378 hereditary angioedema MONDO:0033948 acquired angioedema with C1Inh deficiency MONDO:0019624 Orphanet:528663 Orphanet:91385 acquired angioedema MONDO:0033980 RELA fusion-positive ependymoma MONDO:0003266 Orphanet:530792 Orphanet:301 ependymal tumor MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome MONDO:0020066 Orphanet:536471 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0034022 Bethlem myopathy 2 MONDO:0020066 Orphanet:536516 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0034103 infection-related hemolytic uremic syndrome MONDO:0001549 Orphanet:544482 Orphanet:544458 hemolytic-uremic syndrome MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0015159 Orphanet:544503 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0015653 Orphanet:544503 Orphanet:166472 monogenic epilepsy MONDO:0034109 congenital myopathy with reduced type 2 muscle fibers MONDO:0019952 Orphanet:544602 Orphanet:97245 congenital myopathy MONDO:0034127 IgA pemphigus MONDO:0019337 Orphanet:555905 Orphanet:79669 autoimmune bullous skin disease MONDO:0034142 pancreatic agenesis-holoprosencephaly syndrome MONDO:0015159 Orphanet:556955 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO:0017198 Orphanet:556985 Orphanet:2781 osteopetrosis MONDO:0034143 early-onset calcifying leukoencephalopathy-skeletal dysplasia MONDO:0019046 Orphanet:556985 Orphanet:68356 leukodystrophy MONDO:0034145 oculocerebrodental syndrome MONDO:0005308 Orphanet:557003 Orphanet:363250 ciliopathy MONDO:0034145 oculocerebrodental syndrome MONDO:0015159 Orphanet:557003 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0034146 spastic ataxia-dysarthria due to glutaminase deficiency MONDO:0017847 Orphanet:557056 Orphanet:316240 autosomal recessive spastic ataxia MONDO:0034186 autosomal recessive extra-oral halitosis MONDO:0019222 Orphanet:562538 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO:0034976 iatrogenic Creutzfeldt-Jakob disease MONDO:0018686 Orphanet:576379 Orphanet:454700 acquired Creutzfeldt-Jakob disease MONDO:0035004 serine biosynthesis pathway deficiency, infantile/juvenile form MONDO:0018162 Orphanet:583595 Orphanet:35705 neurometabolic disorder due to serine deficiency MONDO:0035121 myeloid/lymphoid neoplasm associated with JAK2 rearrangement MONDO:0015688 Orphanet:589542 Orphanet:168943 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies MONDO:0019287 Orphanet:589608 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0035124 linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies MONDO:0019290 Orphanet:589608 Orphanet:79376 hypopigmentation of the skin MONDO:0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome MONDO:0015159 Orphanet:589905 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0035151 17q24.2 microdeletion syndrome MONDO:0016915 Orphanet:529962 Orphanet:262137 partial deletion of the long arm of chromosome 17 MONDO:0035235 classic pyoderma gangrenosum MONDO:0018824 Orphanet:538863 Orphanet:48104 pyoderma gangrenosum MONDO:0035236 pustular pyoderma gangrenosum MONDO:0018824 Orphanet:538866 Orphanet:48104 pyoderma gangrenosum MONDO:0035237 bullous pyoderma gangrenosum MONDO:0018824 Orphanet:538869 Orphanet:48104 pyoderma gangrenosum MONDO:0035238 vegetative pyoderma gangrenosum MONDO:0018824 Orphanet:538872 Orphanet:48104 pyoderma gangrenosum MONDO:0035290 atypical hemolytic uremic syndrome with complement gene abnormality MONDO:0016244 Orphanet:544472 Orphanet:2134 atypical hemolytic-uremic syndrome MONDO:0035293 streptococcus pneumoniae-associated hemolytic uremic syndrome MONDO:0034103 Orphanet:544493 Orphanet:544482 infection-related hemolytic uremic syndrome MONDO:0035295 congenital primary megaureter, refluxing and obstructed form MONDO:0018960 Orphanet:544578 Orphanet:617 congenital primary megaureter MONDO:0035320 early-onset familial hypoaldosteronism MONDO:0018541 Orphanet:556030 Orphanet:427 familial hypoaldosteronism MONDO:0035321 late-onset familial hypoaldosteronism MONDO:0018541 Orphanet:556037 Orphanet:427 familial hypoaldosteronism MONDO:0035349 localized dystrophic epidermolysis bullosa MONDO:0006543 Orphanet:595356 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0035400 seronegative autoimmune hepatitis MONDO:0016264 Orphanet:563589 Orphanet:2137 autoimmune hepatitis MONDO:0035403 serous cystadenoma of childhood MONDO:0016092 Orphanet:563666 Orphanet:206470 serous or mucinous cystadenoma of childhood MONDO:0035404 mucinous cystadenoma of childhood MONDO:0016092 Orphanet:563671 Orphanet:206470 serous or mucinous cystadenoma of childhood MONDO:0035405 seromucinous cystadenoma of childhood MONDO:0016092 Orphanet:563676 Orphanet:206470 serous or mucinous cystadenoma of childhood MONDO:0035406 furuncular myiasis due to Dermatobia hominis MONDO:0018941 Orphanet:563684 Orphanet:591 furuncular myiasis MONDO:0035407 furuncular myiasis due to Cordylobia anthropophaga MONDO:0018941 Orphanet:563687 Orphanet:591 furuncular myiasis MONDO:0035408 furuncular myiasis due to Cordylobia rodhaini MONDO:0018941 Orphanet:563690 Orphanet:591 furuncular myiasis MONDO:0035410 isolated congenital aglossia MONDO:0013003 Orphanet:563951 Orphanet:141152 isolated congenital hypoglossia/aglossia MONDO:0035411 isolated congenital hypoglossia MONDO:0013003 Orphanet:563954 Orphanet:141152 isolated congenital hypoglossia/aglossia MONDO:0035423 triglyceride deposit cardiomyovasculopathy MONDO:0015611 Orphanet:565612 Orphanet:165 neutral lipid storage disease MONDO:0035524 blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0007201 Orphanet:572354 Orphanet:126 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 MONDO:0007201 Orphanet:572361 Orphanet:126 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO:0035540 pheochromocytoma-paraganglioma MONDO:0021227 Orphanet:573163 Orphanet:100091 adrenal gland neoplasm MONDO:0035562 acquired human prion disease MONDO:0018926 Orphanet:576360 Orphanet:56970 human prion disease MONDO:0035639 mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) MONDO:0020743 Orphanet:589534 Orphanet:530995 mixed phenotype acute leukemia MONDO:0035642 mixed phenotype acute leukemia with t(v;11q23.3) MONDO:0020743 Orphanet:589595 Orphanet:530995 mixed phenotype acute leukemia MONDO:0035646 congenital-onset Steinert myotonic dystrophy MONDO:0008056 Orphanet:589821 Orphanet:273 myotonic dystrophy type 1 MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies MONDO:0019100 Orphanet:592850 Orphanet:71211 neuromyelitis optica MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies MONDO:0019100 Orphanet:592856 Orphanet:71211 neuromyelitis optica MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies MONDO:0019100 Orphanet:592869 Orphanet:71211 neuromyelitis optica MONDO:0035666 acute transverse myelitis with anti-MOG antibodies MONDO:0015342 Orphanet:592873 Orphanet:139417 acute transverse myelitis MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies MONDO:0019383 Orphanet:592894 Orphanet:83597 acute disseminated encephalomyelitis MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies MONDO:0019383 Orphanet:592900 Orphanet:83597 acute disseminated encephalomyelitis MONDO:0035696 incomplete septal cirrhosis MONDO:0035357 Orphanet:596941 Orphanet:596937 portosinusoidal vascular disease MONDO:0035838 idiopathic multicentric Castleman disease MONDO:0015564 Orphanet:570431 Orphanet:160 Castleman disease MONDO:0035892 Mills syndrome MONDO:0020129 Orphanet:94091 Orphanet:98506 acquired motor neuron disease MONDO:0035930 neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency MONDO:0000179 Orphanet:583612 Orphanet:2671 Neu-Laxova syndrome MONDO:0035940 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) MONDO:0035605 Orphanet:585909 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035941 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) MONDO:0035605 Orphanet:585918 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035942 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) MONDO:0035605 Orphanet:585929 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035943 B-lymphoblastic leukemia/lymphoma with hyperdiploidy MONDO:0035605 Orphanet:585936 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy MONDO:0035605 Orphanet:585942 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0035945 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) MONDO:0035605 Orphanet:585948 Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality MONDO:0036042 KAT6B-related multiple congenital anomalies syndrome MONDO:0015159 Orphanet:597749 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0036217 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation MONDO:0032931 Orphanet:615983 Orphanet:615954 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0036218 lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster MONDO:0032931 Orphanet:615986 Orphanet:615954 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal MONDO:0037149 HSD10 disease, atypical type MONDO:0010327 Orphanet:85295 Orphanet:391417 HSD10 mitochondrial disease MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0015168 Orphanet:2547 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0016073 Orphanet:2547 Orphanet:202948 syndromic microphthalmia MONDO:0043143 microphthalmia microtia fetal akinesia MONDO:0043009 Orphanet:2547 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0044200 T-B+ severe combined immunodeficiency MONDO:0015974 Orphanet:317416 Orphanet:183660 severe combined immunodeficiency MONDO:0044201 T+ B+ severe combined immunodeficiency MONDO:0015974 Orphanet:397802 Orphanet:183660 severe combined immunodeficiency MONDO:0044202 episodic kinesigenic dyskinesia MONDO:0015427 Orphanet:98809 Orphanet:1431 paroxysmal dyskinesia MONDO:0044300 familial adenomatous polyposis 4 MONDO:0016362 Orphanet:480536 Orphanet:220460 attenuated familial adenomatous polyposis MONDO:0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination MONDO:0015653 Orphanet:500545 Orphanet:166472 monogenic epilepsy MONDO:0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold MONDO:0015159 Orphanet:653767 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:0015159 Orphanet:505237 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies MONDO:0015653 Orphanet:505237 Orphanet:166472 monogenic epilepsy MONDO:0044332 childhood-onset benign chorea with striatal involvement MONDO:0015548 Orphanet:494541 Orphanet:158266 Huntington disease-like syndrome MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome MONDO:0019287 Orphanet:3200 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome MONDO:0019942 Orphanet:3200 Orphanet:97120 distal arthrogryposis MONDO:0044619 propylthiouracil embryofetopathy MONDO:0016677 Orphanet:485358 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0044621 16p12.1p12.3 triplication syndrome MONDO:0015159 Orphanet:485405 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044621 16p12.1p12.3 triplication syndrome MONDO:0016949 Orphanet:485405 Orphanet:262794 partial duplication of the short arm of chromosome 16 MONDO:0044625 autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation MONDO:0018993 Orphanet:487814 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0044628 six2-related frontonasal dysplasia MONDO:0016643 Orphanet:488437 Orphanet:250 frontonasal dysplasia MONDO:0044629 congenital amyoplasia MONDO:0015225 Orphanet:488586 Orphanet:109007 arthrogryposis syndrome MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis MONDO:0002429 Orphanet:494428 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome MONDO:0018795 Orphanet:494444 Orphanet:477794 syndromic constitutional thrombocytopenia MONDO:0044637 infantile-onset generalized dyskinesia with orofacial involvement MONDO:0015990 Orphanet:494526 Orphanet:1866 focal, segmental or multifocal dystonia MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:0015159 Orphanet:495818 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044641 9q33.3q34.11 microdeletion syndrome MONDO:0016908 Orphanet:495818 Orphanet:262074 partial monosomy of the long arm of chromosome 9 MONDO:0044642 c11orf73-related autosomal recessive hypomyelinating leukodystrophy MONDO:0019046 Orphanet:495844 Orphanet:68356 leukodystrophy MONDO:0044643 congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome MONDO:0015159 Orphanet:495875 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044645 familial monosomy 7 syndrome MONDO:0018881 Orphanet:495930 Orphanet:52688 myelodysplastic syndrome MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0015159 Orphanet:496641 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0024237 Orphanet:496641 Orphanet:183500 inherited neurodegenerative disorder MONDO:0044647 kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome MONDO:0018943 Orphanet:496686 Orphanet:593 myofibrillar myopathy MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO:0015363 Orphanet:496756 Orphanet:140468 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO:0018307 Orphanet:496756 Orphanet:385 neurodegeneration with brain iron accumulation MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO:0020046 Orphanet:496756 Orphanet:98098 autosomal recessive degenerative and progressive cerebellar ataxia MONDO:0044656 epidermolytic nevus MONDO:0017266 Orphanet:497737 Orphanet:281103 keratinopathic ichthyosis MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO:0018993 Orphanet:497757 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MONDO:0015168 Orphanet:498693 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0044688 isolated optic neuritis MONDO:0044685 Orphanet:499096 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0044689 recurrent idiopathic neuroretinitis MONDO:0044685 Orphanet:499103 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0044690 optic perineuritis MONDO:0044685 Orphanet:499107 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0015159 Orphanet:500144 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044699 SIN3A-related intellectual disability syndrome MONDO:0015159 Orphanet:500163 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044700 SIN3A-related intellectual disability syndrome due to a point mutation MONDO:0044699 Orphanet:500166 Orphanet:500163 SIN3A-related intellectual disability syndrome MONDO:0044709 cochleovestibular dysplasia MONDO:0015604 Orphanet:502305 Orphanet:164004 middle ear anomaly MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0009637 Orphanet:502423 Orphanet:206966 inborn mitochondrial myopathy MONDO:0044717 4q25 proximal deletion syndrome MONDO:0016903 Orphanet:502437 Orphanet:262029 partial deletion of the long arm of chromosome 4 MONDO:0044718 alkaline ceramidase 3 deficiency MONDO:0019046 Orphanet:502444 Orphanet:68356 leukodystrophy MONDO:0044719 erythema multiforme major MONDO:0017396 Orphanet:502499 Orphanet:293815 toxic dermatosis MONDO:0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome MONDO:0020047 Orphanet:504476 Orphanet:98099 autosomal recessive syndromic cerebellar ataxia MONDO:0044721 severe combined immunodeficiency due to LAT deficiency MONDO:0044200 Orphanet:504523 Orphanet:317416 T-B+ severe combined immunodeficiency MONDO:0044723 3-methylglutaconic aciduria type 8 MONDO:0017359 Orphanet:505208 Orphanet:289902 3-methylglutaconic aciduria MONDO:0044724 3-methylglutaconic aciduria type 9 MONDO:0017359 Orphanet:505216 Orphanet:289902 3-methylglutaconic aciduria MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0015962 Orphanet:505242 Orphanet:183592 inherited renal tubular disease MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0017764 Orphanet:505242 Orphanet:309845 disorder of zinc metabolism MONDO:0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MONDO:0024237 Orphanet:505242 Orphanet:183500 inherited neurodegenerative disorder MONDO:0044738 Gabriele de Vries syndrome MONDO:0015159 Orphanet:506358 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044739 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome MONDO:0019810 Orphanet:506784 Orphanet:95455 toxic epidermal necrolysis MONDO:0044778 nodular lymphocyte predominant Hodgkin lymphoma MONDO:0004952 Orphanet:86893 Orphanet:98293 Hodgkins lymphoma MONDO:0044877 paraneoplastic cerebellar degeneration MONDO:0018215 Orphanet:623626 Orphanet:36388 paraneoplastic neurologic syndrome MONDO:0054559 congenital disorder of glycosylation, type IIq MONDO:0017750 Orphanet:435934 Orphanet:309568 defect in conserved oligomeric Golgi complex MONDO:0054636 Skraban-Deardorff syndrome MONDO:0015159 Orphanet:513456 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0054669 pontocerebellar hypoplasia, type 11 MONDO:0020135 Orphanet:611247 Orphanet:98523 pontocerebellar hypoplasia MONDO:0054680 epiphyseal dysplasia, multiple, 7 MONDO:0016648 Orphanet:647676 Orphanet:251 multiple epiphyseal dysplasia MONDO:0054770 orofaciodigital syndrome 18 MONDO:0015375 Orphanet:508501 Orphanet:140997 orofaciodigital syndrome MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0017338 Orphanet:569290 Orphanet:289573 fatal multiple mitochondrial dysfunctions syndrome MONDO:0054813 Ehlers-Danlos syndrome, classic-like, 2 MONDO:0020066 Orphanet:536532 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0018993 Orphanet:521414 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies MONDO:0015159 Orphanet:521426 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0060564 HELIX syndrome MONDO:0015962 Orphanet:528105 Orphanet:183592 inherited renal tubular disease MONDO:0060568 Pilarowski-Bjornsson syndrome MONDO:0015159 Orphanet:529965 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0060627 glycosylphosphatidylinositol biosynthesis defect 15 MONDO:0015159 Orphanet:529665 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0100040 FOXG1 disorder MONDO:0015653 Orphanet:561854 Orphanet:166472 monogenic epilepsy MONDO:0100164 permanent neonatal diabetes mellitus MONDO:0016391 Orphanet:99885 Orphanet:224 neonatal diabetes mellitus MONDO:0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia MONDO:0016543 Orphanet:2102 Orphanet:238583 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0100244 paroxysmal nocturnal hemoglobinuria MONDO:0015610 Orphanet:447 Orphanet:164823 acquired aplastic anemia MONDO:0100251 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0018891 Orphanet:306661 Orphanet:53715 familial tumoral calcinosis MONDO:0100280 Waldenstrom macroglobulinemia MONDO:0017594 Orphanet:33226 Orphanet:300842 indolent B-cell non-Hodgkin lymphoma MONDO:0100339 Friedreich ataxia MONDO:0020046 Orphanet:95 Orphanet:98098 autosomal recessive degenerative and progressive cerebellar ataxia MONDO:0100344 Bartter disease type 1 MONDO:0015231 Orphanet:620217 Orphanet:112 Bartter syndrome MONDO:0100349 COACH syndrome MONDO:0015369 Orphanet:1454 Orphanet:140874 Joubert syndrome and related disorders MONDO:0100350 neuronopathy, distal hereditary motor, type 5 MONDO:0015362 Orphanet:139536 Orphanet:140465 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0018383 Orphanet:251262 Orphanet:399380 osteonecrosis of genetic origin MONDO:0100466 butterfly-shaped pigment dystrophy MONDO:0018973 Orphanet:99001 Orphanet:63454 patterned dystrophy of the retinal pigment epithelium MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0018158 Orphanet:254871 Orphanet:35698 mitochondrial DNA depletion syndrome MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type MONDO:0016357 Orphanet:2204 Orphanet:646139 dysplastic cortical hyperostosis MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:0014805 Orphanet:500055 Orphanet:643549 Hao-Fountain syndrome MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:0016894 Orphanet:500055 Orphanet:261956 partial deletion of the short arm of chromosome 16 MONDO:0100566 myoclonic epilepsy in infancy MONDO:0020071 Orphanet:86909 Orphanet:98258 infantile epilepsy syndrome MONDO:0100567 hereditary angioedema with normal C1Inh MONDO:0019623 Orphanet:528647 Orphanet:91378 hereditary angioedema MONDO:0700088 paroxysmal nonkinesigenic dyskinesia MONDO:0015427 Orphanet:98810 Orphanet:1431 paroxysmal dyskinesia MONDO:0700264 type 1 interferonopathy MONDO:0019751 Orphanet:477647 Orphanet:93665 autoinflammatory syndrome MONDO:0700282 POLR3-related leukodystrophy MONDO:0019046 Orphanet:289494 Orphanet:68356 leukodystrophy MONDO:0700335 familial isolated dilated cardiomyopathy MONDO:0016333 Orphanet:154 Orphanet:217607 familial dilated cardiomyopathy MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 Orphanet:313808 Orphanet:68356 leukodystrophy MONDO:0800029 interstitial lung disease 2 MONDO:0002429 Orphanet:2032 Orphanet:98300 idiopathic interstitial pneumonia MONDO:0800043 Stüve-Wiedemann syndrome 1 MONDO:0019698 Orphanet:3206 Orphanet:93439 bent bone dysplasia MONDO:0800448 leukoencephalopathy with vanishing white matter MONDO:0019046 Orphanet:135 Orphanet:68356 leukodystrophy MONDO:0800449 lysosomal acid lipase deficiency MONDO:0015905 Orphanet:275761 Orphanet:181437 syndromic dyslipidemia MONDO:0800449 lysosomal acid lipase deficiency MONDO:0019245 Orphanet:275761 Orphanet:79204 lysosomal lipid storage disorder MONDO:0850064 inherited hematologic cancer-predisposing syndrome MONDO:0015356 Orphanet:619340 Orphanet:140162 hereditary neoplastic syndrome MONDO:0850072 non-syndromic unisutural craniosynostosis MONDO:0015337 Orphanet:620096 Orphanet:139390 isolated craniosynostosis MONDO:0850097 autoimmune limbic encephalitis MONDO:0020640 Orphanet:623615 Orphanet:622014 autoimmune encephalitis MONDO:0858998 mesomelic dysplasia-digital anomalies-intellectual disability syndrome MONDO:0015159 Orphanet:632603 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0858999 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome MONDO:0015159 Orphanet:633004 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0859002 intellectual disability-early-onset cataract-microcephaly syndrome MONDO:0015159 Orphanet:633035 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0859003 PAICS deficiency MONDO:0019236 Orphanet:633099 Orphanet:79191 inborn disorder of purine metabolism MONDO:0859007 mosaic Legius syndrome MONDO:0019289 Orphanet:634511 Orphanet:79375 hyperpigmentation of the skin MONDO:0859008 neurofibromatosis/schwannomatosis MONDO:0015356 Orphanet:634518 Orphanet:140162 hereditary neoplastic syndrome MONDO:0859147 Marbach-Rustad progeroid syndrome MONDO:0015333 Orphanet:659873 Orphanet:139033 progeroid syndrome MONDO:0859150 BDV syndrome MONDO:0018354 Orphanet:633028 Orphanet:398073 Prader-Willi-like syndrome MONDO:0859267 tumor predisposition syndrome 2 MONDO:0015356 Orphanet:661526 Orphanet:140162 hereditary neoplastic syndrome MONDO:0859692 immune-mediated cerebellar ataxia MONDO:0016593 Orphanet:623638 Orphanet:247242 acquired ataxia MONDO:0859761 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome MONDO:0859000 Orphanet:633021 Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0859762 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0859000 Orphanet:633024 Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome MONDO:0859763 mosaic neurofibromatosis type 1 MONDO:0859008 Orphanet:634461 Orphanet:634518 neurofibromatosis/schwannomatosis MONDO:0859764 mosaic NF2-related schwannomatosis MONDO:0859008 Orphanet:634475 Orphanet:634518 neurofibromatosis/schwannomatosis MONDO:0859765 mosaic schwannomatosis MONDO:0859008 Orphanet:634492 Orphanet:634518 neurofibromatosis/schwannomatosis MONDO:0957270 muscular dystrophy, limb-girdle, autosomal recessive 28 MONDO:0015152 Orphanet:653725 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0957408 type 1 interferonopathy of childhood MONDO:0957018 Orphanet:481671 Orphanet:319719 autoinflammatory syndrome of childhood MONDO:0957421 borna virus encephalitis MONDO:0006009 Orphanet:637051 Orphanet:98252 viral encephalitis MONDO:0957426 autosomal recessive hyper-IgE syndrome MONDO:0018037 Orphanet:641368 Orphanet:331223 hyper-IgE syndrome MONDO:0957451 non-terminal myelocystocele MONDO:0017077 Orphanet:645340 Orphanet:268813 myelocystocele MONDO:0957453 true myelomeningocele MONDO:0019773 Orphanet:645383 Orphanet:93969 myelomeningocele MONDO:0957454 hemi-myelomeningocele MONDO:0019773 Orphanet:645388 Orphanet:93969 myelomeningocele MONDO:0957456 classical dermatomyositis MONDO:0016367 Orphanet:645613 Orphanet:221 dermatomyositis MONDO:0957458 adermatopathic dermatomyositis MONDO:0016367 Orphanet:645626 Orphanet:221 dermatomyositis MONDO:0957461 primary tuberculous lymphadenitis MONDO:0018076 Orphanet:645807 Orphanet:3389 tuberculosis MONDO:0957463 primary bone and joint tuberculosis MONDO:0018076 Orphanet:645822 Orphanet:3389 tuberculosis MONDO:0957465 multifocal tuberculosis MONDO:0018076 Orphanet:645854 Orphanet:3389 tuberculosis MONDO:0957466 primary tuberculosis of the digestive system MONDO:0018076 Orphanet:645859 Orphanet:3389 tuberculosis MONDO:0957556 congenital pulmonary vein atresia MONDO:0017864 Orphanet:99126 Orphanet:3188 congenital pulmonary veins atresia or stenosis MONDO:0958071 Hao-Fountain syndrome due to USP7 mutation MONDO:0014805 Orphanet:643538 Orphanet:643549 Hao-Fountain syndrome MONDO:0958075 intramedullary non-dysraphic spinal cord lipoma MONDO:0001790 Orphanet:645359 Orphanet:645276 spinal cord lipoma MONDO:0958076 myeloschisis MONDO:0017062 Orphanet:645398 Orphanet:268369 spina bifida aperta MONDO:0958077 collagen 6-related congenital muscular dystrophy MONDO:0019950 Orphanet:646098 Orphanet:97242 congenital muscular dystrophy MONDO:0958083 conjoined twins MONDO:0019755 Orphanet:647916 Orphanet:93890 developmental defect during embryogenesis MONDO:0958091 cleft palate-congenital heart defect-intellectual disability syndrome MONDO:0015159 Orphanet:652519 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0958094 adult-onset progressive leukoencephalopathy-early-onset deafness MONDO:0019046 Orphanet:652532 Orphanet:68356 leukodystrophy MONDO:0958095 Nodal T-follicular helper cell lymphoma, follicular type MONDO:0015760 Orphanet:652650 Orphanet:171918 T-cell non-Hodgkin lymphoma MONDO:0958096 monomorphic epitheliotropic intestinal T-cell lymphoma MONDO:0015760 Orphanet:652658 Orphanet:171918 T-cell non-Hodgkin lymphoma MONDO:0958097 primary superior vena cava aneurysm MONDO:0019829 Orphanet:652668 Orphanet:95498 congenital anomaly of superior vena cava MONDO:0958098 primary inferior vena cava aneurysm MONDO:0019830 Orphanet:652678 Orphanet:95499 congenital anomaly of the inferior vena cava MONDO:0958104 digenic Alport syndrome MONDO:0018965 Orphanet:653722 Orphanet:63 Alport syndrome MONDO:0958110 atrophic papulosis MONDO:0019293 Orphanet:656071 Orphanet:79379 skin vascular disease MONDO:0958115 autosomal recessive combined immunodeficiency due to complete IL6ST deficiency MONDO:0018037 Orphanet:656283 Orphanet:331223 hyper-IgE syndrome MONDO:0958115 autosomal recessive combined immunodeficiency due to complete IL6ST deficiency MONDO:0019698 Orphanet:656283 Orphanet:93439 bent bone dysplasia MONDO:0958116 autosomal recessive combined immunodeficiency due to partial IL6ST deficiency MONDO:0018037 Orphanet:656300 Orphanet:331223 hyper-IgE syndrome MONDO:0958117 autosomal dominant combined immunodeficiency due to partial IL6ST deficiency MONDO:0018037 Orphanet:656313 Orphanet:331223 hyper-IgE syndrome MONDO:0958118 autosomal recessive combined immunodeficiency due to IL6R deficiency MONDO:0018037 Orphanet:656326 Orphanet:331223 hyper-IgE syndrome MONDO:0958119 embryonal tumor with multilayered rosettes MONDO:0016713 Orphanet:656417 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor MONDO:0958120 autosomal dominant combined immunodeficiency due to ERBIN deficiency MONDO:0018037 Orphanet:656912 Orphanet:331223 hyper-IgE syndrome MONDO:0958123 isolated pulmonary artery sling MONDO:0015239 Orphanet:658574 Orphanet:1138 abnormal origin of the pulmonary artery MONDO:0958127 transplant-related bronchiolitis obliterans MONDO:0015265 Orphanet:658602 Orphanet:1303 bronchiolitis obliterans syndrome MONDO:0958128 non-transplant-related bronchiolitis obliterans MONDO:0015265 Orphanet:658612 Orphanet:1303 bronchiolitis obliterans syndrome MONDO:0958129 COQ7-related distal hereditary motor neuropathy MONDO:0015363 Orphanet:658778 Orphanet:140468 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0958129 COQ7-related distal hereditary motor neuropathy MONDO:0018151 Orphanet:658778 Orphanet:35656 coenzyme Q10 deficiency MONDO:0958130 Greig cephalopolysyndactyly-contiguous gene syndrome MONDO:0015161 Orphanet:658805 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0958231 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism MONDO:0015653 Orphanet:589515 Orphanet:166472 monogenic epilepsy MONDO:0958231 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism MONDO:0019792 Orphanet:589515 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0958258 Cushing syndrome due to cortisol-producing adrenocortical adenoma MONDO:0020529 Orphanet:642788 Orphanet:647758 ACTH-independent Cushing syndrome MONDO:0958259 dysraphism with stalk MONDO:0000859 Orphanet:645193 Orphanet:645202 spina bifida occulta MONDO:0958260 dysraphic spinal cord lipoma MONDO:0000859 Orphanet:645273 Orphanet:645202 spina bifida occulta MONDO:0958260 dysraphic spinal cord lipoma MONDO:0001790 Orphanet:645273 Orphanet:645276 spinal cord lipoma MONDO:0958270 central precocious puberty in male MONDO:0019165 Orphanet:649929 Orphanet:650063 central precocious puberty MONDO:0958273 cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation MONDO:0958091 Orphanet:652514 Orphanet:652519 cleft palate-congenital heart defect-intellectual disability syndrome MONDO:0958274 benign atrophic papulosis MONDO:0958110 Orphanet:656085 Orphanet:656071 atrophic papulosis MONDO:0958344 spinal dermal sinus MONDO:0958259 Orphanet:645188 Orphanet:645193 dysraphism with stalk MONDO:0958345 limited dorsal myeloschisis MONDO:0958259 Orphanet:645196 Orphanet:645193 dysraphism with stalk MONDO:0958348 retained medullary cord MONDO:0958259 Orphanet:645334 Orphanet:645193 dysraphism with stalk MONDO:0958349 dorsal spinal cord lipoma MONDO:0958260 Orphanet:645362 Orphanet:645273 dysraphic spinal cord lipoma MONDO:0958350 conus spinal cord lipoma MONDO:0958260 Orphanet:645367 Orphanet:645273 dysraphic spinal cord lipoma MONDO:0958351 hemi-myeloschisis MONDO:0958076 Orphanet:645393 Orphanet:645398 myeloschisis MONDO:0958352 true myeloschisis MONDO:0958076 Orphanet:645401 Orphanet:645398 myeloschisis MONDO:0958353 intermediate collagen VI-related muscular dystrophy MONDO:0958077 Orphanet:646113 Orphanet:646098 collagen 6-related congenital muscular dystrophy MONDO:0958356 primary central precocious puberty in male MONDO:0958270 Orphanet:650087 Orphanet:649929 central precocious puberty in male MONDO:0958357 secondary central precocious puberty in male MONDO:0958270 Orphanet:650092 Orphanet:649929 central precocious puberty in male MONDO:0968955 hypocalcified amelogenesis imperfecta MONDO:0019507 Orphanet:100032 Orphanet:88661 amelogenesis imperfecta MONDO:0968986 chaotic conus spinal cord lipoma MONDO:0958350 Orphanet:645285 Orphanet:645367 conus spinal cord lipoma MONDO:0968987 extramedullary conus spinal cord lipoma MONDO:0958350 Orphanet:645297 Orphanet:645367 conus spinal cord lipoma MONDO:0968988 saccular spinal dysraphism with a stalk to the dome MONDO:0017069 Orphanet:645319 Orphanet:268744 spina bifida cystica MONDO:0968988 saccular spinal dysraphism with a stalk to the dome MONDO:0958345 Orphanet:645319 Orphanet:645196 limited dorsal myeloschisis MONDO:0968989 non-saccular limited dorsal myeloschisis MONDO:0958345 Orphanet:645343 Orphanet:645196 limited dorsal myeloschisis MONDO:0968990 genetic central precocious puberty in male MONDO:0958356 Orphanet:650097 Orphanet:650087 primary central precocious puberty in male MONDO:0968991 non-genetic central precocious puberty in male MONDO:0958356 Orphanet:650102 Orphanet:650087 primary central precocious puberty in male MONDO:0970957 terminal extramedullary conus spinal cord lipoma MONDO:0968987 Orphanet:645288 Orphanet:645297 extramedullary conus spinal cord lipoma MONDO:0970958 transitional extramedullary conus spinal cord lipoma MONDO:0968987 Orphanet:645291 Orphanet:645297 extramedullary conus spinal cord lipoma MONDO:0970959 posterior extramedullary conus spinal cord lipoma MONDO:0968987 Orphanet:645294 Orphanet:645297 extramedullary conus spinal cord lipoma MONDO:0970960 lipomatous non-saccular limited dorsal myeloschisis MONDO:0968989 Orphanet:645300 Orphanet:645343 non-saccular limited dorsal myeloschisis MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis MONDO:0968989 Orphanet:645310 Orphanet:645343 non-saccular limited dorsal myeloschisis MONDO:0970962 terminal myelocystocele MONDO:0017077 Orphanet:645337 Orphanet:268813 myelocystocele MONDO:0970962 terminal myelocystocele MONDO:0968988 Orphanet:645337 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome MONDO:0970963 saccular limited dorsal myeloschisis MONDO:0968988 Orphanet:645354 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome MONDO:0970964 myelic limited dorsal malformation MONDO:0968988 Orphanet:645378 Orphanet:645319 saccular spinal dysraphism with a stalk to the dome MONDO:0971047 PRC-2 complex-related overgrowth spectrum MONDO:0015159 Orphanet:659387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0971047 PRC-2 complex-related overgrowth spectrum MONDO:0019716 Orphanet:659387 Orphanet:93460 overgrowth syndrome MONDO:0971049 single isolated optic neuritis MONDO:0044688 Orphanet:659626 Orphanet:499096 isolated optic neuritis MONDO:0971050 relapsing isolated optic neuritis MONDO:0044688 Orphanet:659634 Orphanet:499096 isolated optic neuritis MONDO:0971058 verruga peruana MONDO:0018984 Orphanet:659759 Orphanet:64692 Oroya fever MONDO:0971062 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation MONDO:0859257 Orphanet:660012 Orphanet:660017 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism MONDO:0971063 autosomal dominant dopa-responsive dystonia MONDO:0016812 Orphanet:98808 Orphanet:255 dopa-responsive dystonia MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome MONDO:0015159 Orphanet:660021 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency MONDO:0017313 Orphanet:661412 Orphanet:285657 disorder of folate metabolism and transport MONDO:0971068 Phelan-McDermid syndrome due to 22q13.3 deletion MONDO:0011652 Orphanet:662169 Orphanet:48652 Phelan-McDermid syndrome MONDO:0971068 Phelan-McDermid syndrome due to 22q13.3 deletion MONDO:0022760 Orphanet:662169 Orphanet:262182 chromosome 22q deletion MONDO:0971069 Phelan-McDermid syndrome due to SHANK3 mutation MONDO:0011652 Orphanet:662172 Orphanet:48652 Phelan-McDermid syndrome MONDO:0971077 episodic memory defect leukoencephalopathy MONDO:0019046 Orphanet:662229 Orphanet:68356 leukodystrophy MONDO:0971091 acute megakaryoblastic leukemia in adult MONDO:0018872 Orphanet:662934 Orphanet:518 acute megakaryoblastic leukemia MONDO:0971092 soft and hard cleft palate MONDO:0016064 Orphanet:664372 Orphanet:2014 cleft palate MONDO:0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation MONDO:0016460 Orphanet:664401 Orphanet:228410 polyvalvular heart disease syndrome MONDO:0971095 6q25.1 microdeletion syndrome MONDO:0016460 Orphanet:664404 Orphanet:228410 polyvalvular heart disease syndrome MONDO:0971095 6q25.1 microdeletion syndrome MONDO:0016905 Orphanet:664404 Orphanet:262047 partial deletion of the long arm of chromosome 6 MONDO:0971107 common arterial trunk with aortic dominance MONDO:0018072 Orphanet:665044 Orphanet:3384 persistent truncus arteriosus MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch MONDO:0018072 Orphanet:665058 Orphanet:3384 persistent truncus arteriosus MONDO:0971118 pilocytic astrocytoma with histological features of anaplasia MONDO:0016691 Orphanet:673585 Orphanet:251612 pilocytic astrocytoma MONDO:0971133 isolated segmental infantile hemangioma MONDO:0016223 Orphanet:675380 Orphanet:210589 infantile hemangioma of rare localization MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0015159 Orphanet:675775 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0015159 Orphanet:675782 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:0017739 Orphanet:675782 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0971141 localized pleural mesothelioma MONDO:0006292 Orphanet:675833 Orphanet:50251 malignant mesothelioma MONDO:0971142 diffused pleural mesothelioma MONDO:0006292 Orphanet:675837 Orphanet:50251 malignant mesothelioma MONDO:0971143 pleural mesothelioma in situ MONDO:0006292 Orphanet:675841 Orphanet:50251 malignant mesothelioma MONDO:0971154 hepatic cutaneous porphyria MONDO:0002520 Orphanet:659698 Orphanet:659694 hepatic porphyria MONDO:0975753 papillary hemangioma MONDO:0971115 Orphanet:673543 Orphanet:673470 benign vascular tumor MONDO:0975754 pseudomyogenic hemangioendothelioma MONDO:0971116 Orphanet:673556 Orphanet:673473 borderline vascular tumor MONDO:0975755 eccrine angiomatous hamartoma MONDO:0971115 Orphanet:673568 Orphanet:673470 benign vascular tumor MONDO:0975756 reactive angioendotheliomatosis MONDO:0971115 Orphanet:673574 Orphanet:673470 benign vascular tumor MONDO:0975757 anastomosing haemangioma MONDO:0971115 Orphanet:675359 Orphanet:673470 benign vascular tumor MONDO:0975758 microvenular haemangioma MONDO:0971115 Orphanet:675369 Orphanet:673470 benign vascular tumor MONDO:0975759 acquired elastotic haemangioma MONDO:0971115 Orphanet:675597 Orphanet:673470 benign vascular tumor MONDO:8000008 Martsolf syndrome 1 MONDO:0015159 Orphanet:1387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0017574 Orphanet:99811 Orphanet:2978 chronic intestinal pseudoobstruction