Database of rare diseases and related terms, including symptoms, healthcare resources, and organizations supporting research of the disease. Genetic and Rare Diseases Information Center PyOBO v0.12.13-dev-207b46e9 on 2025-10-31T15:17:22.013023 by https://github.com/biopragmatics/pyobo/blob/main/src/pyobo/sources/gard.py https://rarediseases.info.nih.gov/diseases https://rarediseases.info.nih.gov/assets/GARD_Logo_Mobile.svg Uncategorized Disease Fellman disease Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome Gracile syndrome scan1 spinocerebellar ataxia type 1 with axonal neuropathy Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 congenital chloride diarrhea finnish type congenital chloride diarrhoea finnish type congenital chloridorrhea congenital secretory chloride diarrhea 1 congenital secretory chloride diarrhea type 1 congenital secretory chloride diarrhoea type 1 defective cl^-^/hco^-^>3< exchange in ileum and/or colon secretory diarrhea caused by mutation in slc26a3 secretory diarrhoea caused by mutation in slc26a3 slc26a3 secretory diarrhea slc26a3 secretory diarrhoea Congenital secretory diarrhea, chloride type Chromosome 8q12.1-q21.2 deletion syndrome ftd2 grn-related frontotemporal dementia GRN-related frontotemporal lobar degeneration with Tdp43 inclusions PFHB familial Lenegre disease familial Lenègre disease familial Lev disease familial Lev-Lenegre disease familial Lev-Lenègre disease familial PCCD familial progressive heart block Progressive familial heart block agmx2 imd61 immunodeficiency 61, x-linked recessive Immunodeficiency 61 ataxo-opso-myoclonus syndrome dancing eye syndrome dancing eye-dancing feet syndrome dancing eyes-dancing feet syndrome infantile polymyoclonus kinsbourne syndrome oma syndrome oms opsoclonus-myoclonus-ataxia syndrome paraneoplastic opsoclonus-myoclonus paraneoplastic opsoclonus-myoclonus-ataxia syndrome poma syndrome Opsoclonus-myoclonus syndrome deb, bullous dermolysis of the newborn deb-bdn self-improving deb self-improving dystrophic epidermolysis bullosa transient bullous dermolysis of newborn transient bullous of the newborn Transient bullous dermolysis of the newborn Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome camptodactyly and tall stature with scoliosis and hearing loss syndrome camptodactyly-tall stature-scoliosis-deafness syndrome catshl (camptodactyly, tall stature, scoliosis, hearing loss) syndrome catshl syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome niacin deficiency niacin-tryptophan deficiency Pellagra corneal dystrophy, fuchs endothelial endoepithelial corneal dystrophy fced fecd fuch's endothelial corneal dystrophy fuchs corneal dystrophy fuchs' corneal dystrophy fuchs' endothelial corneal dystrophy late hereditary endothelial dystrophy Fuchs' endothelial dystrophy X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies mandibulofacial dysostosis, Toriello type mandibulofacial dysostosis, X-linked X-linked mandibulofacial dysostosis Bruck syndrome caused by mutation in PLOD2 Bruck syndrome type 2 PLOD2 Bruck syndrome Bruck syndrome 2 Whistling face syndrome, recessive form anterior chamber cleavage defect anterior chamber cleavage disorder anterior chamber malformation anterior chamber mesodermal anomalies anterior segment developmental abnormality anterior segment developmental anomaly anterior segment mesenchymal dysgenesis anterior segment mesencyhmal dysgenesis anterior segment ocular dysgenesis asgd asmd asod familial ocular anterior segment mesenchymal dysgenesis ocular anterior segment dysgenesis Anterior segment dysgenesis Piriformis syndrome CMD Campomelic Syndrome campomelic dwarfism Campomelic dysplasia ATP8B1 benign recurrent intrahepatic cholestasis BRIC1 Bric type 1 benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1 cholestasis, benign recurrent intrahepatic, type 1 Benign recurrent intrahepatic cholestasis type 1 BRIC2 Bric type 2 cholestasis, benign recurrent intrahepatic, type 2 Benign recurrent intrahepatic cholestasis type 2 ANIB2 Aneurysm, intracranial berry, 2 Congenital trigeminal anesthesia familial dementia with neuroserpin inclusion bodies fenib Familial encephalopathy with neuroserpin inclusion bodies encephalopathy due to hydroxykynureninuria kynureninase deficiency xanthurenic aciduria Hydroxykynureninuria branchio oculo facial syndrome hing type burn mckeown syndrome burn-mckeown syndrome choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome oculootofacial dysplasia Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome akr1d1 congenital bile acid synthesis defect basd2 bile acid synthesis defect, congenital, type 2 cbas2 congenital bile acid synthesis defect caused by mutation in akr1d1 congenital bile acid synthesis defect type 2 delta-4-3-oxosteroid-5-beta-reductase deficiency Congenital bile acid synthesis defect 2 2-methylacyl-coa racemase deficiency alpha-methyl-acyl-coa racemase deficiency bas defect type 4 basd4 bile acid synthesis defect, congenital, type 4 cbas4 intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome Congenital bile acid synthesis defect 4 5-oxoprolinuria GSSD glutathione synthetase deficiency inborn error of glutathione synthase activity inborn glutathione synthase activity disorder pyroglutamic aciduria pyroglutamicaciduria rare inborn error of glutathione synthase activity Inherited glutathione synthetase deficiency isolated anonychia Isolated congenital anonychia CACD areolar atrophy of the macula central areolar choroidal sclerosis choroidal dystrophy Central areolar choroidal dystrophy bcd bietti crystalline retinopathy bietti's crystalline dystrophy bietti's crystalline retinopathy Bietti crystalline corneoretinal dystrophy limb mammary syndrome lms Limb-mammary syndrome Lipomyelomeningocele al gazali lytle syndrome eye defects, arachnodactyly, cardiopathy syndrome Al-gazali syndrome MFDM syndrome mandibulofacial dysostosis with microcephaly mandibulofacial dysostosis, Guion-Almeida type Mandibulofacial dysostosis-microcephaly syndrome semd, geneviève type semdg semdg - spondyloepimetaphyseal dysplasia genevieve type spondyloepimetaphyseal dysplasia geneviève type spondyloepimetaphyseal dysplasia, camera-genevieve type Spondyloepimetaphyseal dysplasia, genevieve type singh-Williams-McAlister syndrome Talo-patello-scaphoid osteolysis overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome Metaphyseal undermodeling, spondylar dysplasia, and overgrowth mixed subependymoma-ependymoma subependymoma, benign who grade i ependymal tumour Subependymal glioma narrowing of pulmonic valve pulmonary valve stenosis pulmonic stenosis (disease) pulmonic valve stenosis Pulmonic stenosis bone dysplasia-medullary fibrosarcoma syndrome diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome dms-mfh hardcastle syndrome Diaphyseal medullary stenosis-bone malignancy syndrome sarcoma of telencephalon telencephalon sarcoma Cerebral sarcoma acromesomelic dysplasia, demirhan type amd3 amdd chondrodysplasia, acromesomelic, with or without genital anomalies Acromesomelic dysplasia 3 hereditary hydroa vacciniforme Hydroa vacciniforme, familial white forelock with malformations syndrome White forelock with malformations Infantile osteopetrosis with neuroaxonal dysplasia VODI syndrome Hepatic veno-occlusive disease-immunodeficiency syndrome hfmh Hemifacial myohyperplasia chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome Majeed syndrome pierre robin sequence, congenital heart defect, talipes syndrome pierre robin sequence-congenital heart defect-talipes syndrome pierre robin syndrome, congenital heart defect, talipes syndrome pierre robin syndrome-congenital heart defect-talipes syndrome talipes equinovarus-atrial septal defect-robin sequence-persistence of the left superior vena cava syndrome tarp (talipes equinovarus, atrial septal defect, robin sequence, persistence of left superior vena cava) syndrome tarp syndrome, x-linked recessive Tarp syndrome Pierre robin sequence with pectus excavatum and rib and scapular anomalies cerebral giant cerebral gigantism cerebral gigantism syndrome chromosome 5q35 deletion syndrome nsd1 sotos syndrome sotos sotos syndrome caused by mutation in nsd1 sotos' syndrome Sotos syndrome hemochromatosis type 2 hfe2 jhh juvenile hereditary hemochromatosis Juvenile hemochromatosis hemochromatosis due to defect in transferrin receptor 2 hereditary hemochromatosis caused by mutation in tfr2 hereditary hemochromatosis type 3 hfe3 tfr2 (transferrin receptor 2 gene) related hemochromatosis tfr2 hereditary hemochromatosis tfr2-related hemochromatosis tfr2-related hereditary hemochromatosis Hemochromatosis type 3 hemochromatosis type 4a hereditary hemochromatosis caused by mutation in slc40a1 hfe4 slc40a1 hereditary hemochromatosis slc40a1-related hereditary hemochromatosis Hemochromatosis type 4 cutaneous leiomyomata with uterine leiomyomata familial leiomyomatosis familial leiomyomatosis and renal cell cancer familial leiomyomatosis cutis et uteri familial leiomyomatosis with renal carcinoma familial multiple cutaneous leiomyomas hereditary leiomyomatosis hereditary leiomyomatosis and renal cell cancer syndrome hereditary leiomyomatosis with renal carcinoma hereditary multiple cutaneous leiomyomas hlrcc hlrcc - hereditary leiomyomatosis and renal cell cancer leiomyoma, hereditary multiple, of skin leiomyomatosis and renal cell cancer mcul multiple cutaneous and uterine leiomyomas multiple cutaneous and uterine leiomyomatosis multiple cutaneous leiomyomas reed syndrome Hereditary leiomyomatosis and renal cell cancer Leiomyoma of vulva and esophagus gamma-glutamyl transferase deficiency gamma-glutamyl transpeptidase deficiency glutathioninuria glutathionuria inborn error of glutathione hydrolase activity inborn glutathione hydrolase activity disorder rare inborn error of glutathione hydrolase activity Gamma-Glutamyltransferase deficiency centronuclear myopathy, congenital cnm myopathy, centronuclear myotubular myopathy Centronuclear myopathy spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome elastosis perforans keratosis follicularis serpiginosa miescher's elastoma perforating elastoma perforating elastosis perforating serpiginous elastosis Elastosis perforans serpiginosa pseudoxanthoma elasticum, incomplete Pseudoxanthoma elasticum, forme fruste autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia autosomal recessive osteopetrosis type 7 optb7 osteoclast-poor osteopetrosis with hypogammaglobulinemia osteopetrosis (disease) caused by mutation in tnfrsf11a osteopetrosis, autosomal recessive type 7 osteopetrosis-hypogammaglobulinemia syndrome tnfrsf11a osteopetrosis (disease) tnfrsf11a- related autosomal recessive osteopetrosis Autosomal recessive osteopetrosis 7 cms1d cms4c congenital myasthenic syndrome 4c associated with acetylcholine receptor deficiency congenital myasthenic syndrome type 4c congenital myasthenic syndrome type id familial infantile myasthenia 1 fim1 gfpt1-related congenital myasthenic syndrome musk-related congenital myasthenic syndrome Congenital myasthenic syndrome 4C amsterdam dwarf brachmann de lange syndrome brachmann-de lange syndrome bruck-de lange syndrome cdl de lange syndrome degenerative amstelodamensis typus degenerative amsterodamensis typus typus degenerativus amstelodamensis Cornelia de Lange syndrome IFAH syndrome IHS autosomal recessive congenital ichthyosis type 11 autosomal recessive ichthyosis with hypotrichosis hypotrichosis-congenital ichthyosis syndrome ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis ichthyosis, congenital, autosomal recessive type 11 ichthyosis-follicular atrophoderma-hypotrichosis syndrome ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome ichthyosis-hypotrichosis syndrome Autosomal recessive congenital ichthyosis 11 congenital stationary night blindness, oguchi type oguchi syndrome oguchi's disease Oguchi disease Cone dystrophy, x-linked, with tapetal-like sheen VMD1 Vitelliform macular dystrophy 1 intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome mental retardation, truncal obesity, retinal dystrophy, and micropenis morm (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome Morm syndrome pbcra Progressive bifocal chorioretinal atrophy gangliosidosis, generalized gm1, type ii gm1 gangliosidosis type ii gm1 gangliosidosis, type 2 juvenile gm1 gangliosidosis juvenile gm>1< gangliosidosis late-infantile gm1 gangliosidosis GM1 gangliosidosis type 2 46,xy disorder of sex development due to lhb deficiency 46,xy disorder of sex development due to luteinizing hormone subunit beta deficiency 46,xy dsd due to lhb deficiency 46,xy dsd due to luteinizing hormone subunit beta deficiency fertile eunuch fertile eunuch syndrome hypogonadotropic hypogonadism 23 with or without anosmia hypogonadotropic hypogonadism caused by mutation in lhb leydig cell hypoplasia due to lhb deficiency leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency lhb hypogonadotropic hypogonadism pasqualini syndrome Isolated lutropin deficiency fshb hypogonadotropic hypogonadism hypogonadotropic hypogonadism 24 with or without anosmia hypogonadotropic hypogonadism caused by mutation in fshb isolated follicle-stimulating hormone deficiency isolated fsh deficiency Hypogonadotropic hypogonadism 24 without anosmia chng4 hypothryoidism, congenital, nongoitrous 4 hypothyroidism, congenital, nongoitrous 4 hypothyroidism, congenital, nongoitrous, type 4 isolated thyrotropin deficiency isolated tsh deficiency Isolated thyroid-stimulating hormone deficiency 22q13.3 deletion monosomy 22q13.3 phelan mcdermid syndrome phmds Phelan-mcdermid syndrome hereditary motor and sensory neuropathy okinawa type hereditary motor and sensory neuropathy proximal type hereditary motor and sensory neuropathy, proximal type hmsnp Hereditary motor and sensory neuropathy, okinawa type autosomal recessive charcot-marie-tooth disease type 4g charcot-marie-tooth disease type 4 caused by mutation in hk1 charcot-marie-tooth disease, demyelinating, type 4g charcot-marie-tooth neuropathy type 4g cmt4g hereditary motor and sensory neuropathy russe type hereditary motor and sensory neuropathy, russe type hk1 charcot-marie-tooth disease type 4 hmsnr Charcot-Marie-Tooth disease type 4G autosomal recessive distal spinal muscular atrophy type 2 dhmnj distal hereditary motor neuropathy jerash type dsma2 hereditary motor neuropathy, jerash type neuropathy, distal hereditary motor, autosomal recessive 2 spinal muscular atrophy jerash type spinal muscular atrophy, distal, autosomal recessive, type 2 Autosomal recessive distal spinal muscular atrophy 2 DYT4 hereditary whispering dysphonia torsion dystonia type 4 whispering dysphonia Torsion dystonia 4 bohring opitz syndrome bohring syndrome bos syndrome c-like syndrome oberklaid-danks syndrome opitz trigonocephaly-like syndrome Bohring-opitz syndrome familial CML-like syndrome Familial chronic myelocytic leukemia-like syndrome lethal osteogenesis imperfecta neonatal lethal osteogenesis imperfecta congenita oi type 2 oi, type ii oi2 osteogenesis imperfecta congenita neonatal lethal form osteogenesis imperfecta type ii, dominant form osteogenesis imperfecta type iia osteogenesis imperfecta, dominant perinatal lethal osteogenesis imperfecta, neonatal lethal osteogenesis imperfecta, perinatal lethal perinatal lethal osteogenesis imperfecta congenita vrolik type of osteogenesis imperfecta Osteogenesis imperfecta type 2 brandywine type dentinogenesis imperfecta brandywine type of dentinogenesis imperfecta dentinogenesis imperfecta - shield's type iii dentinogenesis imperfecta shields type 3 dentinogenesis imperfecta type iii dentinogenesis imperfecta, shields type 3 dentinogenesis imperfecta, shields type iii dgi-iii Dentinogenesis imperfecta type 3 potocki lupski syndrome potocki-lupski syndrome, isolated cases trisomy 17p11.2 17p11.2 microduplication syndrome bor branchio-otorenal dysplasia branchiootorenal dysplasia branchiootorenal syndrome Branchio-oto-renal syndrome bo syndrome bor branchio-otic syndrome branchiootic dysplasia Branchiootic syndrome kmd Kyphomelic dysplasia lepre1-related osteogenesis imperfecta oi8 osteogenesis imperfecta caused by mutation in p3h1 osteogenesis imperfecta type viii p3h1 osteogenesis imperfecta Osteogenesis imperfecta type 8 pulmonary capillary hemangiomatosis pvod Pulmonary venoocclusive disease Congenital chylothorax Onychotrichodysplasia and neutropenia chac syndrome chacs - curly hair, acral keratoderma, caries syndrome curly hair, acral keratoderma, caries syndrome curly hair-acral keratoderma-caries syndrome Curly hair - acral keratoderma - caries syndrome germ cell tumor, nonseminomatous non-dysgerminomatous germ cell tumor non-dysgerminomatous germ cell tumour non-germinomatous germ cell tumor non-germinomatous germ cell tumour non-seminomatous germ cell tumor non-seminomatous germ cell tumour non-seminomatous germ-cell tumors nongerminomatous germ cell tumour nongerminomatous germ cell tumour including central nervous system nonseminomatous germ cell tumors, somatic Nongerminomatous germ cell tumor cors2 jbts2 joubert syndrome caused by mutation in tmem216 joubert syndrome type 2 tmem216 joubert syndrome tmem216-related joubert syndrome Joubert syndrome 2 JS-O Joubert syndrome with retinopathy Joubert syndrome with ocular defect jbts4 joubert syndrome type 4 js-r nphp1-related joubert syndrome Joubert syndrome with renal defect brittle bone disease brittle bone syndrome col1a1/2-related osteogenesis imperfecta glass bone disease lobstein disease lobstein's syndrome oi oi - osteogenesis imperfecta osteopsathyrosis porak and durante disease vrolik's disease Osteogenesis imperfecta focal cemento-osseous dysplasia Florid cemento-osseous dysplasia cholangiocarcinoma of hilar portion of hepatic duct cholangiocarcinoma of perihilar bile duct hilar portion of hepatic duct cholangiocarcinoma klatskin tumour klatskin's tumor klatskin's tumour perihilar extrahepatic bile duct carcinoma Klatskin tumor extrinsic biliary compression syndrome Mirizzi syndrome CYLD cutaneous syndrome Brooke-spiegler syndrome es Epithelioid sarcoma chc cryohydrocytosis due to band 3 blackburn cryohydrocytosis due to band 3 hemel cryohydrocytosis due to band 3 hurstpierpoint hereditary cryohydrocytosis with normal stomatin stomatocytosis, cold-sensitive Cryohydrocytosis brittle cornea syndrome type 1 kyphoscoliosis type type VIB Ehlers-Danlos syndrome Brittle cornea syndrome FCD type II cortical dysplasia, Taylor type focal cortical dysplasia, type II, somatic isolated focal cortical dysplasia type 2 Isolated focal cortical dysplasia type ii sptcl subcutaneous panniculitic cutaneous t-cell lymphoma subcutaneous panniculitic t-cell lymphoma Subcutaneous panniculitis-like t-cell lymphoma Immunoglobulin a deficiency type 2 TNFRSF13B selective IgA deficiency disease selective IgA deficiency disease caused by mutation in TNFRSF13B Immunoglobulin a deficiency 2 early-onset x-linked optic atrophy non-leber type optic atrophy with early-onset opa2 optic atrophy 2, x-linked optic atrophy type 2 Optic atrophy 2 3-phosphoglycerate dehydrogenase deficiency neonatal form nls - neu-laxova syndrome Neu-Laxova syndrome OPA6 Optic atrophy 6 OPA5 Optic atrophy 5 2q37 monosomy albright hereditary osteodystrophy type 3 albright hereditary osteodystrophy-like syndrome bdmr brachydactyly intellectual disability syndrome brachydactyly-intellectual disability syndrome chromosome 2, monosomy 2q37 del(2)(q37) deletion 2q37 deletion 2q37-qter monosomy 2q37 monosomy 2q37-qter monosomy 2q37qter 2q37 microdeletion syndrome autosomal dominant optic atrophy and cataract autosomal dominant optic atrophy type 3 opa3, autosomal dominant Optic atrophy 3 BBS5 BBS5 Bardet-Biedl syndrome Bardet-Biedl syndrome caused by mutation in BBS5 Bardet-Biedl syndrome type 5 Bardet-biedl syndrome 5 BBS6 Bardet-Biedl syndrome type 6 Bardet-biedl syndrome 6 BBS7 BBS7 Bardet-Biedl syndrome Bardet-Biedl syndrome caused by mutation in BBS7 Bardet-Biedl syndrome type 7 Bardet-biedl syndrome 7 BBS8 Bardet-Biedl syndrome caused by mutation in TTC8 Bardet-Biedl syndrome type 8 TTC8 Bardet-Biedl syndrome Bardet-biedl syndrome 8 BBS9 BBS9 Bardet-Biedl syndrome Bardet-Biedl syndrome caused by mutation in BBS9 Bardet-Biedl syndrome type 9 Bardet-biedl syndrome 9 BBS10 BBS10 Bardet-Biedl syndrome Bardet-Biedl syndrome caused by mutation in BBS10 Bardet-Biedl syndrome type 10 Bardet-biedl syndrome 10 BBS11 Bardet-Biedl syndrome caused by mutation in TRIM32 Bardet-Biedl syndrome type 11 TRIM32 Bardet-Biedl syndrome Bardet-biedl syndrome 11 BBS12 BBS12 Bardet-Biedl syndrome Bardet-Biedl syndrome caused by mutation in BBS12 Bardet-Biedl syndrome type 12 Bardet-biedl syndrome 12 cdni citrin deficiency, neonatal or infantile onset neonatal intrahepatic cholestasis caused by citrin deficiency niccd Neonatal intrahepatic cholestasis due to citrin deficiency adult onset citrin deficiency adult onset type 2 citrullinemia adult-onset citrin deficiency adult-onset citrullinemia type 2 adult-onset citrullinemia type ii adult-onset type 2 citrullinemia adult-onset type ii citrullinemia citrullinemia type 2 ctln2 Citrullinemia type ii MHAC NDE1-related microhydranencephaly Czech dysplasia Czech dysplasia metatarsal type Czech dysplasia, metatarsal type SED with metatarsal shortening pseudorheumatoid dysplasia, progressive, with hypoplastic toes spondyloepiphyseal dysplasia with precocious osteoarthritis Spondyloepiphyseal dysplasia with metatarsal shortening acad8-gene related deficiency of isobutyryl-coenzyme a dehydrogenase deficiency of isobutyryl-coa dehydrogenase deficiency of isobutyryl-coenzyme a dehydrogenase isobutyric aciduria isobutyryl-coa dehydrogenase deficiency disease isobutyryl-coenzyme a dehydrogenase deficiency disease Isobutyryl-coa dehydrogenase deficiency zygomycota infectious disease Zygomycosis men 2b men 2b - multiple endocrine neoplasia type 2b men 2b syndrome men iib men2b men2b - multiple endocrine neoplasia type 2b multiple endocrine neoplasia iib multiple endocrine neoplasia, type 3 wagenmann-froboese syndrome Multiple endocrine neoplasia type 2b carbohydrate deficient glycoprotein syndrome type 2g carbohydrate deficient glycoprotein syndrome type iig cdg syndrome type iig cdg-iig cdg2g cdg2g - carbohydrate deficient glycoprotein syndrome type 2g cog1 (component of oligomeric golgi complex 1) congenital disorder of glycosylation cog1 congenital disorder of glycosylation cog1-cdg component of oligomeric golgi complex 1 congenital disorder of glycosylation congenital disorder of glycosylation type 2g congenital disorder of glycosylation type iig COG1-congenital disorder of glycosylation cataract 31, posterior polar chmp4b early-onset non-syndromic cataract ctrct31 early-onset non-syndromic cataract caused by mutation in chmp4b Cataract 31 multiple types cataract 11 cataract 11, syndromic, autosomal recessive ctrct11 early-onset non-syndromic cataract caused by mutation in pitx3 pitx3 early-onset non-syndromic cataract Cataract 11 multiple types autosomal dominant limb-girdle muscular dystrophy caused by mutation in lmna edmd2 edmd2 - autosomal dominant emery-dreifuss muscular dystrophy hauptmann-thannhauser muscular dystrophy limb-girdle muscular dystrophy, type 1b lmna autosomal dominant limb-girdle muscular dystrophy lmna-related emery-dreifuss muscular dystrophy, autosomal muscular dystrophy, limb-girdle type 1b proximal muscular dystrophy type 1b Emery-dreifuss muscular dystrophy 2, autosomal dominant cataract (disease) caused by mutation in epha2 cataract 6, congenital total cataract 6, posterior polar ctrct6 epha2 cataract (disease) Cataract 6 multiple types anterior polar cataracts 1 cataract 32 multiple types ctrct32 Cataract 32 bbgd biotin-thiamine-responsive basal ganglia disease btbgd thiamine metabolism dysfunction syndrome 2 thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type) thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) thiamine metabolism dysfunction syndrome type 2 thiamine transporter-2 deficiency thiamine-responsive encephalopathy Biotin-responsive basal ganglia disease asrar facharzt haque syndrome hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism pigmented hypertrichosis and insulin-dependent diabetes mellitus H syndrome diamond-blackfan anaemia caused by mutation in rps24 diamond-blackfan anaemia type 3 diamond-blackfan anemia caused by mutation in rps24 diamond-blackfan anemia type 3 rps24 diamond-blackfan anaemia rps24 diamond-blackfan anemia rps24-related diamond-blackfan anemia Diamond-blackfan anemia 3 familial lipase maturation factor 1 deficiency familial lmf1 deficiency Lipase deficiency, combined bronchogenic cyst (disease) congenital bronchial cyst congenital bronchogenic cyst Bronchogenic cyst primary sjogren-gougerot syndrome primary sjögren-gougerot syndrome sicca syndrome sjogrens syndrome sjögren's disease sjögren's syndrome sjögren-gougerot syndrome syndrome, sjogren's xerodermosteosis Sjogren syndrome hydatidiform moles Hydatidiform mole meningioma (disease) of spinal cord spinal cord meningioma (disease) Spinal meningioma Pityriasis lichenoides cerebral amyloid angiopathy cerebral amyloid angiopathy, hereditary dutch hereditary cerebral amyloid angiopathy hchwa hchwa - hereditary cerebral hemorrhage with amyloidosis hereditary cerebral haemorrhage with amyloidosis - dutch type hereditary cerebral hemorrhage with amyloidosis - dutch type Hereditary cerebral hemorrhage with amyloidosis hyperalaninemia increased blood alanine increased serum alanine Hyper-beta-alaninemia Adducted thumbs-arthrogryposis syndrome, christian type bonnevie-ullrich and klippel-feil syndrome cervical c2/c3 vertebral fusion cervical fusion syndrome cervical vertebral fusion autosomal dominant cervical vertebral fusion autosomal recessive cervical vertebral fusion syndrome fusion of cervical vertebrae c2-3 kfs - klippel-feil syndrome klippel feil syndrome autosomal dominant klippel-feil anomaly klippel-feil deformity klippel-feil sequence nielsen's disease Klippel-Feil syndrome Desmosterolosis becrs centralopathic epilepsy centrotemporal epilepsy centrotemporal epilepsy, isolated cases childhood epilepsy with centrotemporal spikes sylvan seizures temporal-central focal epilepsy Self-limited epilepsy with centrotemporal spikes NLSDM neutral lipid storage disease with myopathy without ichthyosis Neutral lipid storage myopathy atypical krabbe disease due to saposin a deficiency krabbe disease, atypical krabbe disease, atypical due to saposin a deficiency krabbe disease, atypical, due to saposin a deficiency Krabbe disease due to saposin A deficiency osteogenesis imperfecta with congenital joint contractures osteogenesis imperfecta-congenital joint contractures syndrome Bruck syndrome Suarez-Stickler syndrome Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia linear nevus sebaceous linear nevus sebaceus syndrome linear sebaceous nevus sequence nevus sebaceus of jadassohn nevus sebaceus syndrome nevus, sebaceous of jadassohn organoid nevus syndrome schimmelpenning syndrome schimmelpenning-feuerstein-mims syndrome, somatic mosaic sebaceous nevus syndrome and hemimegalencephaly solomon syndrome Linear nevus sebaceous syndrome arca2 arca2 - autosomal recessive cerebellar ataxia type 2 autosomal recessive ataxia due to coenzyme q10 deficiency autosomal recessive cerebellar ataxia type 2 autosomal recessive spinocerebellar ataxia type 9 cabc1-related coenzyme q10 deficiency coenzyme q10 deficiency, primary, type 4 scar9 Autosomal recessive ataxia due to ubiquinone deficiency star (syndactyly, telecanthus, anogenital, renal malformation) syndrome star syndrome, x-linked dominant syndactyly, telecanthus, anogenital and renal malformation syndrome Syndactyly-telecanthus-anogenital and renal malformations syndrome 15q13.3 deletion syndrome 15q13.3 microdeletion syndrome del(15)(q13.3) microdeletion of chromosome 15q13.3 monosomy 15q13.3 Chromosome 15q13.3 microdeletion syndrome diaphyseal dysplasia anemia syndrome diaphyseal dysplasia with anemia diaphyseal dysplasia-anemia syndrome ghosal hematodiaphyseal syndrome ghosal syndrome Ghosal hematodiaphyseal dysplasia 22q11DS Cayler cardiofacial syndrome Sedlackova syndrome Shprintzen syndrome Takao syndrome catch 22 conotruncal anomaly face syndrome microdeletion 22q11.2 monosomy 22q11 22q11.2 deletion syndrome bangungut brugada type idiopathic ventricular fibrillation dream disease idiopathic ventricular fibrillation, brugada type pokkuri death syndrome sudden unexplained death syndrome sudden unexplained nocturnal death syndrome sudden unexplained nocturnal death syndrome (sunds) sunds Brugada syndrome Balikova-Vermeesch syndrome Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome bestrophinopathy retinopathy burgess black type retinopathy, burgess-black type Autosomal recessive bestrophinopathy 46,xx sex reversal with dysgenesis of kidneys adrenals and lungs serkal (sex reversion, kidney, adrenal and lung dysgenesis) syndrome sex reversion, kidney, adrenal and lung dysgenesis syndrome sex reversion-kidneys, adrenal and lung dysgenesis syndrome Serkal syndrome Autism-facial port-wine stain syndrome dup(8)(p23.1p23.1) trisomy 8p23.1 8p23.1 duplication syndrome nephrogenic syndrome of inappropriate antidiuresis, x-linked recessive nsiad nsiad - nephrogenic syndrome of inappropriate antidiuresis Nephrogenic syndrome of inappropriate antidiuresis carbohydrate deficiency glycoprotein syndrome carbohydrate deficient glycoprotein syndrome cdg cdg - carbohydrate-deficient glycoprotein syndrome Congenital disorder of glycosylation IRAK4 deficiency immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency invasive pneumococcal disease, recurrent isolated, 1 invasive pneumococcal disease, recurrent isolated, type 1 Immunodeficiency 67 kaeser syndrome neurogenic scapuloperoneal syndrome kaeser type stark kaeser syndrome stark-kaeser syndrome Neurogenic scapuloperoneal syndrome, kaeser type neurogenic scapuloperoneal amyotrophy, new england type scapuloperoneal form of spinal muscular atrophy scapuloperoneal neuronopathy scapuloperoneal spinal muscular atrophy, autosomal dominant spsma Scapuloperoneal spinal muscular atrophy cmyo1b congenital myopathy 1b, autosomal recessive minicore myopathy, antenatal onset, with arthrogryposis Congenital multicore myopathy with external ophthalmoplegia chkb-related muscle diseases congenital megaconial myopathy congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect congenital muscular dystrophy with mitochondrial structural abnormalities megaconial congenital muscular dystrophy Megaconial type congenital muscular dystrophy anterior occlusion anteroclusion autosomal dominant prognathism big lower jaw big mandible bulldog jaw class iii incisal relationship class iii malocclusion enlarged mandible enlargement of mandible hyperplasia of lower jaw hypertrophy of lower jaw hypertrophy of mandible increased projection of lower jaw increased projection of mandible increased size of lower jaw increased size of mandible large lower jaw large mandible lower jaw excess lower jaw hyperplasia macromandible malocclusion, angle class iii mandible prognathism mandibular excess mandibular hyperplasia mandibular macrognathia mandibular prognathism prognathia prognathism prominent chin prominent jaw prominent lower jaw prominent mandible protrusive chin protrusive occlusion relative mandibular prognathism undershot jaw Mandibular prognathia lattice corneal dystrophy type iiia Corneal dystrophy, lattice type 3A 3-methylglutaconic aciduria caused by mutation in auh 3-methylglutaconic aciduria type i 3-methylglutaconyl-coa hydratase deficiency with 3-methylglutaconic acid 3mg-coa hydratase deficiency auh 3-methylglutaconic aciduria auh-gene related 3-methylglutaconic aciduria type 1 mga type i mga1 3-methylglutaconic aciduria type 1 2-methylbutyric aciduria 2-methylbutyryl-coenzyme a dehydrogenase deficiency disease 2-methylbutyrylglycinuria acadsb acadsb-gene related deficiency of 2-methylbutyryl-coenzyme a dehydrogenase acyl-coa dehydrogenase, short/branched chain deficiency butyryl-coa dehydrogenase deficiency deficiency of 2-methylbutyryl-coa dehydrogenase deficiency of 2-methylbutyryl-coenzyme a dehydrogenase developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency sbcad deficiency short/branched-chain acyl-coa dehydrogenase deficiency disease 2-methylbutyryl-coa dehydrogenase deficiency arginine:glycine amidinotransferase deficiency ccds3 cerebral creatine deficiency syndrome type 3 creatine deficiency syndrome due to agat deficiency creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency disorder of glycine amidinotransferase activity glycine amidinotransferase activity disease l-arginine:glycine amidinotransferase deficiency Agat deficiency mPKU mild PKU variant PKU variant phenylketonuria Mild phenylketonuria 2,4-dienoyl-coa reductase deficiency decr deficiency with hyperlysinemia deficiency of 2,4-dienoyl-coa reductase deficiency of 2,4-dienoyl-coenzyme a reductase Progressive encephalopathy with leukodystrophy due to decr deficiency agammaglobulinemia, x-linked 1, x-linked recessive bruton agammaglobulinemia tyrosine kinase deficiency bruton type agammaglobulinemia bruton tyrosine kinase deficiency bruton's agammaglobulinaemia bruton's hypogammaglobulinemia bruton's type agammaglobulinemia btk deficiency btk-deficiency x linked agammaglobulinemia xla - x-linked agammaglobulinemia Bruton-type agammaglobulinemia 4-hydroxyphenylpyruvate hydroxylase deficiency hpd-gene related tyrosinemia type iii tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency tyrosinemia due to hpd deficiency Tyrosinemia type iii Hb S-Beta thalassemia HbS-beta-thalassemia syndrome S-Beta thalassemia sickle cell-Beta thalassemia sickle cell-Beta-thalassemia Sickle cell-beta-thalassemia disease syndrome alpha-l-iduronidase deficiency iduronidase deficiency disease l-iduronidase deficiency lipochondrodystrophy mps i - hurler syndrome mps1 mpsi mpsi - mucopolysaccharidosis type i mucopolysaccharidosis, mps-i mucopolysaccharidosis, type 1 Mucopolysaccharidosis type 1 scid due to complete rag1-2 deficiency scid due to complete rag1/2 deficiency severe combined immune deficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, rag1/rag2-related severe combined immunodeficiency due to complete rag1-2 deficiency severe combined immunodeficiency, b cell-negative Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive meg-pmg-megacc syndrome megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome megalencephaly-polymicrogyria- polydactyly- hydrocephalus (mpph) syndrome mpph (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome mpph syndrome Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 3-methylglutaconic aciduria type iv mga type iv mga, type iv mga4 mgca4 3-methylglutaconic aciduria type 4 gamma-chain disease gamma-hcd gamma-heavy chain disease Gamma heavy chain disease (clinical) hemophilia, acquired Acquired hemophilia CACNA1A autosomal dominant cerebellar ataxia type III SCA6 autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A Spinocerebellar ataxia type 6 familial platelet disorder with associated myeloid malignancy familial platelet disorder with predisposition to acute myelogenous leukemia familial platelet disorder with predisposition to myeloid malignancy familial platelet disorder with propensity to acute myeloid leukemia familial thrombocytopenia with propensity to acute myelogenous leukemia fpd/aml fpdmm fps/aml Hereditary thrombocytopenia and hematologic cancer predisposition syndrome disorder of porphyrin and hem metabolism hereditary porphyria Inherited porphyria Gershoni-Baruch syndrome Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome hereditary fourth cranial nerve palsy Familial congenital palsy of trochlear nerve Primary release disorder of platelets birk-barel intellectual disability dysmorphism syndrome intellectual disability birk-barel type intellectual disability, hypotonia, facial dysmorphism syndrome intellectual disability-hypotonia-facial dysmorphism syndrome kcnk9 (potassium two pore domain channel subfamily k member 9) imprinting syndrome kcnk9 imprinting syndrome Birk-barel syndrome neostriatal syndrome paleostriatal syndrome pallidal atrophy pallidal syndrome paralysis agitans, juvenile, of hunt Juvenile paralysis agitans of Hunt 3q29 microduplication 3q29 microduplication syndrome trisomy 3q29 Chromosome 3q29 microduplication syndrome BRGDA3 Brugada syndrome caused by mutation in CACNA1C Brugada syndrome type 3 CACNA1C Brugada syndrome Brugada syndrome 3 BRGDA4 Brugada syndrome caused by mutation in CACNB2 Brugada syndrome type 4 CACNB2 Brugada syndrome Brugada syndrome 4 fzd6 inherited isolated nail anomaly inherited isolated nail anomaly caused by mutation in fzd6 nail disorder, nonsyndromic congenital, type 10 nonsyndromic congenital nail disorder 10 nonsyndromic congenital nail disorder type 1 nonsyndromic congenital nail disorder type 10 onychodystrophy totalis trachonychia twenty-nail dystrophy Nonsyndromic congenital nail disorder 1 autosomal recessive sepiapterin reductase-deficient drd dopa responsive dystonia due to sepiapterin reductase deficiency drd due to srd dyt-spr sepiapterin reductase deficiency spr deficiency srd Dopa-responsive dystonia due to sepiapterin reductase deficiency aplasia cutis congenita with epibulbar dermoid syndrome aplasia cutis congenita-epibulbar dermoids syndrome oculoectodermal syndrome oculoectodermal syndrome, somatic Toriello-Lacassie-Droste syndrome ectodermal dysplasia with acanthosis nigricans syndrome ectodermal dysplasia-acanthosis nigricans syndrome Lelis syndrome Bull-Nixon syndrome Primary basilar invagination diarrhea-vomiting due to trehalase deficiency isolated trehalose intolerance Alpha, alpha-Trehalase deficiency hereditary bullous dystrophy, macular type Bullous dystrophy, macular type Autosomal dominant epidermolytic ichthyosis hydronephrosis with peculiar facial expression hydronephrosis-inverted smile syndrome inverted smile-neurogenic bladder syndrome partial facial palsy with urinary abnormalities urofacial syndrome Ochoa syndrome rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation syndrome rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumours syndrome rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation syndrome rohhad rohhad (rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation) syndrome rohhadnet rohhadnet (rapid-onset childhood obesity, hypothalamic dysfunction, hypoventilation, autonomic dysregulation, neural tumors) syndrome Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome SCCO ovarian small cell NEC ovarian small cell cancer ovarian small cell neuroendocrine carcinoma ovary small cell carcinoma small cell carcinoma of ovary small cell carcinoma of the ovary small cell ovarian carcinoma Ovarian small cell carcinoma appendix adenocarcinoid tumor appendix adenocarcinoid tumour appendix goblet cell carcinoid appendix goblet cell carcinoid tumor appendix goblet cell carcinoid tumour appendix mixed carcinoid-adenocarcinoma carcinoma of goblet cell gcc goblet cell adenocarcinoid goblet cell carcinoid of appendix goblet cell carcinoid of the appendix goblet cell carcinoid tumor goblet cell carcinoid tumour goblet cell tumor goblet cell tumour mucinous carcinoid tumor mucinous carcinoid tumour mucocarcinoid tumor mucocarcinoid tumor, malignant Goblet cell carcinoma familial homozygous hypercholesterolemia familial hypercholesterolemia - homozygous hofh Homozygous familial hypercholesterolemia Hemophilia dm - dystrophia myotonica dystrophia myotonica inherited myotonic dystrophy Myotonic dystrophy acoustic neurofibromatosis central neurofibromatosis clinical neurofibromatosis multiple neurofibromatosis neurofibromatosis syndrome nf - neurofibromatosis peripheral neurofibromatosis recklinghausen's neurofibromatosis type iv neurofibromatosis of riccardi von reklinghausen disease Neurofibromatosis CoQ10 deficiency coenzyme Q10 deficiency disease coenzyme Q10 deficiency, primary Coenzyme q10 deficiency carasil cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy maeda syndrome nemoto disease CARASIL syndrome christ siemens touraine syndrome christ-siemans-touraine syndrome christ-siemens-touraine syndrome cst - christ-siemens-touraine syndrome ectodermal dysplasia 1, anhidrotic ectodermal dysplasia 1, hypohidrotic, x-linked, x-linked recessive hypohidrotic ectodermal dysplasia, x-linked hypohidrotic ectodermal dysplasia, x-linked (xlhed) x-linked anhidrotic ectodermal dysplasia xhed X-linked hypohidrotic ectodermal dysplasia autonomic failure bradbury eggleston syndrome bradbury-eggleston syndrome idiopathic orthostatic hypotension paf pure dysautonomia pure idiopatic dysautonomia Pure autonomic failure autosomal dominant brachyolmia brachyolmia type 3 brachyolmia, autosomal dominant Brachyrachia (short spine dysplasia) dravet drvt ds epilepsy, myoclonic, infantile, severe epileptic encephalopathy, early infantile, 6 (dravet syndrome) myoclonic epilepsy, severe, of infancy severe myoclonic epilepsy in infancy severe myoclonus epilepsy of infancy sme smeb smei Dravet syndrome Endemic Kaposi sarcoma KCNE1 long QT syndrome LQT5 long QT syndrome caused by mutation in KCNE1 long QT syndrome type 5 Long qt syndrome 5 KCNE2 long QT syndrome LQT6 long QT syndrome caused by mutation in KCNE2 long QT syndrome type 6 Long qt syndrome 6 CAV3 long QT syndrome LQT9 long QT syndrome caused by mutation in CAV3 long QT syndrome type 9 Long qt syndrome 9 LQT10 SCN4B long QT syndrome long QT syndrome caused by mutation in SCN4B long QT syndrome type 10 Long qt syndrome 10 AKAP9 long QT syndrome LQT11 long QT syndrome caused by mutation in AKAP9 long QT syndrome type 11 Long qt syndrome 11 eccrine epithelioma of skin malignant syringoma microcystic adnexal carcinoma of skin sclerosing sweat duct carcinoma syringoid eccrine carcinoma syringoma, malignant syringomatous sweat duct carcinoma Microcystic adnexal carcinoma disseminated dermatofibrosis with osteopoikilosis osteopoikilosis with or without melorheostosis Buschke-ollendorff syndrome Pediatric multiple sclerosis deficiency of dihydroxyacetonetransferase deficiency of glycerone-transferase transaldolase deficiency Deficiency of transaldolase NEDSWMA cerebral palsy, spastic quadriplegic, 1 cerebral palsy, spastic quadriplegic, type 1 infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities parkinsonism with alveolar hypoventilation and mental depression Perry syndrome abcc8-related permanent neonatal diabetes mellitus ins-related permanent neonatal diabetes mellitus isolated permanent neonatal diabetes mellitus isolated pndm kcnj11-related permanent neonatal diabetes mellitus monogenic diabetes of infancy pdmi pdx1-related permanent neonatal diabetes mellitus permanent diabetes mellitus of infancy pndm Permanent neonatal diabetes mellitus alpha-cell hyperplasia with glucagonemia glucagon receptor-related hyperglucagonemia mvah nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour GCGR-related hyperglucagonemia cutaneovisceral angiomatosis, thrombocytopenia syndrome cutaneovisceral angiomatosis-thrombocytopenia syndrome dkfzp434l132 malt1 wt allele mlt mlt - multifocal lymphangioendotheliomatosis with thrombocytopenia mlt1 mucosa associated lymphoid tissue lymphoma translocation gene 1 wt allele multifocal lymphangioendotheliomatosis with thrombocytopenia multifocal lymphangioendotheliomatosis, thrombocytopenia syndrome Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Myocardial rupture cerebelloparenchymal disorder ii cpd2 hdl4 huntington disease-like 4 olivopontocerebellar atrophy 5 olivopontocerebellar atrophy type 5 opca v opca with dementia and extrapyramidal signs sca 17 sca17 spinocerebellar ataxia 17 spinocerebellar ataxia type17 Spinocerebellar ataxia type 17 BK virus nephropathy BKN PVAN Polyomavirus nephropathy kidney disease caused by BK polyomavirus nephropathy caused by BK polyomavirus nephropathy from BK virus polyomavirus associated nephropathy BK-virus nephropathy autosomal recessive limb girdle muscular dystrophy type 2g autosomal recessive limb-girdle muscular dystrophy caused by mutation in tcap lgmd due to telethonin deficiency lgmd type 2g lgmd2g lgmdr7 limb girdle muscular dystrophy due to telethonin deficiency limb-girdle muscular dystrophy due to telethonin deficiency limb-girdle muscular dystrophy type 2g muscular dystrophy, limb-girdle, autosomal recessive 7 muscular dystrophy, limb-girdle, type 2g tcap autosomal recessive limb-girdle muscular dystrophy telethonin-related lgmd r7 telethonin-related limb-girdle muscular dystrophy r7 telethoninopathy Autosomal recessive limb-girdle muscular dystrophy type 2g l-2(oh) glutaric aciduria l-2-hga l-2-hydroxy-glutaric aciduria l-2-hydroxyglutaric acidemia L-2-hydroxyglutaric aciduria sca10 spinocerebellar ataxia type10 Spinocerebellar ataxia type 10 sca11 spinocerebellar ataxia type11 Spinocerebellar ataxia type 11 SCA12 Spinocerebellar ataxia type 12 SCA15/16 SCAR16 spinocerebellar ataxia type 15 spinocerebellar ataxia type 16 Spinocerebellar ataxia type 15/16 SCA29 congenital nonprogressive spinocerebellar ataxia spinocerebellar ataxia 29, congenital nonprogressive Spinocerebellar ataxia type 29 cerebellar ataxia type 9 sca9 spinocerebellar ataxia type 9 Spinocerebellar ataxia 9 infantile dystonia parkinsonism infantile dystonia-parkinsonism infantile parkinsonism-dystonia ipd parkinsonism-dystonia infantile pkdys Parkinsonism-dystonia, infantile craniopharyngioma (morphologic abnormality) craniopharyngioma, benign rathke pouch tumour rathke's pouch tumour tumour of rathke's pouch Craniopharyngioma autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 cadasil cadasil 1 cadasil syndrome cadasil type 1 cadasil1 casil cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy dementia, hereditary multi-infarct type hereditary multi-infarct dementia Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 sarcoma of Langerhans cell Langerhans cell sarcoma aggressive natural killer-cell leukemia aggressive nk-cell leukaemia (morphologic abnormality) aggressive nk-cell leukemia (morphologic abnormality) aggressive nk-cell lymphoma ankcl large granular lymphocyte leukemia, nk-cell type leukaemia (disease) of natural killer cell leukemia (disease) of natural killer cell natural killer cell leukaemia natural killer cell leukaemia (disease) natural killer cell leukemia (disease) nk cell leukaemia nk-cell large granular lymphocyte leukaemia nk-cell large granular lymphocyte leukemia nk-cell leukaemia nk-cell lgl leukaemia nk-cell lgl leukemia Aggressive nk-cell leukemia mas mas - meconium aspiration syndrome meconium aspiration Meconium aspiration syndrome oculocerebral hypopigmentation syndrome cross type oculocerebral hypopigmentation syndrome, cross type oculocerebral-hypopigmentation syndrome Cross syndrome als 4 als4 als4 - amyotrophic lateral sclerosis type 4 amyotrophic lateral sclerosis 4 amyotrophic lateral sclerosis 4, juvenile amyotrophic lateral sclerosis caused by mutation in setx dhmn (distal hereditary motor neuropathy) with upper motor neuron signs dhmn with upper motor neuron signs distal hereditary motor neuropathy with pyramidal features distal hereditary motor neuropathy with upper motor neuron signs setx amyotrophic lateral sclerosis setx-related amyotrophic lateral sclerosis Amyotrophic lateral sclerosis type 4 cranial rachischisis craniorachischisis (disease) Craniorachischisis cryptophthalmos Cryptophthalmia iniencephalus Iniencephaly bartter syndrome type iv bartter syndrome with sensorineural deafness bartter syndrome with sensorineural hearing loss bartter's syndrome type 4 infantile bartter syndrome with sensorineural deafness Bartter syndrome type 4 apld barraquer syndrome barraquer-simons disease barraquer-simons syndrome hollander-simons syndrome lipodystrophic diabetes with partial lipoatrophy macrodystrophia lipomatosa progressiva partial acquired lipodystrophy partial lipoatrophy progressive cephalothoracic lipodystrophy progressive lipodystrophy progressive partial lipodystrophy Acquired partial lipodystrophy caffey disease caffey syndrome caffey's disease cortical congenital hyperostosis familial infantile cortical hyperostosis hyperostosis, cortical, congenital p1pk blood group system, p(2) phenotype Infantile cortical hyperostosis jhd juvenile huntington chorea juvenile onset huntington disease juvenile onset huntington's disease Juvenile huntington disease semd, aggrecan type spondyloepimetaphyseal dysplasia aggrecan type Spondyloepimetaphyseal dysplasia, aggrecan type east (epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome epilepsy, ataxia, sensorineural deafness and tubulopathy epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance syndrome seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome sesame (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance) syndrome sesame syndrome East syndrome congenital major airway collapse tracheomalacia, congenital Congenital tracheomalacia chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis dira interleukin-1 receptor antagonist deficiency ompp ompp - sterile osteomyelitis, multifocal with periostitis and pustulosis Sterile multifocal osteomyelitis with periostitis and pustulosis ofd iii - orofacial-digital syndrome iii ofds iii oral-facial-digital syndrome, type iii orofaciodigital syndrome iii orofaciodigital syndrome type iii Orofacial-digital syndrome III cahmr (cataract, hypertrichosis, mental retardation) syndrome cahmr syndrome congenital cataract with hypertrichosis and intellectual disability syndrome Cataract-hypertrichosis-intellectual disability syndrome ofd9 ofds ix oral-facial-digital syndrome type 9 oral-facial-digital syndrome, type ix oro-facial digital syndrome type 9 orofaciodigital syndrome type ix orofaciodigital syndrome with retinal abnormalities orofaciodigital syndrome with retinal abnormality Orofaciodigital syndrome ix congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome myopathy, mitochondrial progressive, with congenital cataract and developmental delay Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome CID due to STIM1 deficiency immunodeficiency type 10 Combined immunodeficiency due to stim1 deficiency CID due to ORAI1 deficiency immunodeficiency type 9 Combined immunodeficiency due to orai1 deficiency 15q11.2 BP1-BP2 microdeletion syndrome 15q11.2 microdeletion syndrome Del(15)(q11.2) monosomy 15q11.2 Chromosome 15q11.2 deletion syndrome Ectodermal dysplasia with natal teeth, turnpenny type Gingival fibromatosis-facial dysmorphism syndrome myofibrillar changes myofibrillar myopathy (disease) Myofibrillar myopathy limited cutaneous systemic scleroderma limited scleroderma limited systemic sclerosis systemic sclerosis, limited Limited cutaneous systemic sclerosis dystonia-parkinsonism, x-linked, x-linked recessive dyt-taf1 dyt3 lubag lubag syndrome torsion dystonia parkinsonism filipino type x-linked torsion dystonia parkinsonism syndrome xdp xdp - x-linked dystonia parkinsonism X-linked dystonia-parkinsonism dystonia-17, primary torsion torsion dystonia type 17 Torsion dystonia 17 dyt13 primary dystonia dyt13 type primary dystonia type 13 primary dystonia with mixed phenotype primary torsion dystonia with predominant craniocervical or upper limb onset torsion dystonia type 13 Torsion dystonia 13 autosomal recessive spastic paraplegia 35 autosomal recessive spastic paraplegia type 35 fa2h hereditary spastic paraplegia hereditary spastic paraplegia caused by mutation in fa2h hereditary spastic paraplegia type 35 leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia spastic paraplegia 35 spastic paraplegia 35, autosomal recessive, with or without neurodegeneration spg35 Hereditary spastic paraplegia 35 DYT-PRKRA DYT16 PRKRA dystonic disorder dystonia type 16 dystonic disorder caused by mutation in PRKRA early-onset dystonia parkinsonism Dystonia 16 DYT18 GLUT1 deficiency syndrome 2, childhood onset GLUT1 deficiency syndrome type 2 PxMD-SLC2A1 childhood onset GLUT1 deficiency syndrome type 2 dystonia 18 paroxysmal exercise-induced dystonia ped Childhood onset GLUT1 deficiency syndrome 2 paraganglioma caused by mutation in sdhaf2 paragangliomas type 2 pheochromocytoma/paraganglioma syndrome 2 ppgl2 sdhaf2 paraganglioma sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome Paragangliomas 2 paraganglioma caused by mutation in sdhc paragangliomas type 3 pheochromocytoma/paraganglioma syndrome 3 ppgl3 sdhc paraganglioma sdhc-related hereditary paraganglioma-pheochromocytoma syndrome Paragangliomas 3 paraganglioma caused by mutation in sdhb paragangliomas type 4 pheochromocytoma/paraganglioma syndrome 4 ppgl4 sdhb paraganglioma sdhb-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 4) Paragangliomas 4 infection caused by mycobacterium xenopi mycobacterium xenopi caused disease or disorder mycobacterium xenopi disease or disorder mycobacterium xenopi infection mycobacterium xenopi infectious disease Infection due to Mycobacterium xenopi agranular cd4+ natural killer cell leukaemia agranular cd4+ natural killer cell leukemia blastic natural killer leukemia/lymphoma blastic nk-cell lymphoma bpdcn early plasmacytoid dendritic cell leukemia/lymphoma lymphoblastoid variant of nk-cell lymphoma monomorphic nk-cell lymphoma primary cutaneous cd4+/cd56+ hematolymphoid neoplasm CD4+/CD56+ hematodermic neoplasm 22q11 duplication syndrome 22q11.2 microduplication syndrome chromosome 22q11.2 microduplication syndrome, isolated cases dup(22)(q11) duplication 22q11.2 trisomy 22q11.2 Chromosome 22q11.2 microduplication syndrome interstitial lung disease of childhood primary ild specific to childhood Primary interstitial lung disease specific to childhood inflammatory amyloidosis reactive amyloidosis AA amyloidosis amyloidosis nodular localised cutaneous amyloidosis nodular localized cutaneous nodular amyloidosis nodular cutaneous amyloidosis plcna plcna - primary localized cutaneous nodular amyloidosis primary localised cutaneous nodular amyloidosis primary localized cutaneous nodular amyloidosis Cutaneous nodular amyloidosis vermiform appendix adenocarcinoma Appendix adenocarcinoma autosomal recessive limb girdle muscular dystrophy type 2a autosomal recessive limb-girdle muscular dystrophy caused by mutation in capn3 calpain-3 deficiency limb girdle muscular dystrophy type 2a calpain-3-related lgmd r1 calpain-3-related limb-girdle muscular dystrophy r1 calpainopathy capn3 autosomal recessive limb-girdle muscular dystrophy leyden-moebius muscular dystrophy leyden-möbius muscular dystrophy lgmd type 2a lgmd2a limb-girdle muscular dystrophy due to calpain deficiency limb-girdle muscular dystrophy, type 2a muscular dystrophy, limb-girdle, autosomal recessive 1 muscular dystrophy, limb-girdle, type 2a muscular dystrophy, limb-girdle, type 2a, amish pelvofemoral muscular dystrophy primary calpainopathy Autosomal recessive limb-girdle muscular dystrophy type 2a intellectual developmental disorder, x-linked syndromic, christianson type intellectual developmental disorder, x-linked, syndromic, christianson type intellectual disability, microcephaly, epilepsy, and ataxia syndrome intellectual disability, x-linked syndromic, christianson type mrxsch slc9a6-related syndromic mental retardation x-linked angelman-like syndrome x-linked intellectual developmental disorder christianson type x-linked intellectual disability, south african type x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome x-linked mental retardation, syndromic, christianson type Christianson syndrome Camptodactyly syndrome, guadalajara type 3 AIED Forsius-Eriksson syndrome forsius-eriksson type ocular albinism Aland island eye disease BDPLT12 PGHS1 deficiency platelet COX1 deficiency platelet cyclooxygenase 1 deficiency platelet prostaglandin-endoperoxide synthase 1 deficiency Platelet-type bleeding disorder 12 activation-induced cytidine deaminase deficiency aicda hyper-igm syndrome aid deficiency higm2 hyper-igm immunodeficiency syndrome, type 2 hyper-igm syndrome caused by mutation in aicda Hyper-igm syndrome type 2 cd40 hyper-igm syndrome higm3 hyper-igm immunodeficiency syndrome, type 3 hyper-igm syndrome caused by mutation in cd40 hyper-igm syndrome due to cd40 deficiency immunodeficiency with hyper-igm type 3 type 3 hyper-igm immunodeficiency Hyper-igm syndrome type 3 X-linked calvarial hyperostosis HIGM4 Hyper-igm syndrome type 4 autosomal recessive hyperimmunoglobulin m syndrome due to ung deficiency autosomal recessive hyperimmunoglobulin m syndrome due to uracil dna glycosylase deficiency higm5 hyper-igm immunodeficiency syndrome, type 5 hyper-igm syndrome 5 hyper-igm syndrome caused by mutation in ung hyper-igm syndrome due to ung hyper-igm syndrome due to ung deficiency hyper-igm syndrome due to uracil n-glycosylase immunodeficiency with hyper igm, type 5 ung hyper-igm syndrome Hyper-igm syndrome type 5 occipital atretic cephalocele, unusual facies, large feet syndrome occipital atretic cephalocele-unusual facies-large feet syndrome Zechi-ceide syndrome ichthyosis, hypotrichosis, sclerosing cholangitis syndrome ichthyosis-hypotrichosis-sclerosing cholangitis syndrome ihsc neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome nisch (neonatal ichthyosis, sclerosing cholangitis, hypotrichosis) syndrome Neonatal ichthyosis-sclerosing cholangitis syndrome mesomelic dysplasia with absent fibula and triangular tibia mesomelic dysplasia with absent fibulas and triangular tibias triangular tibia-fibular aplasia syndrome Mesomelic dysplasia, savarirayan type neutrophilic leukaemia Chronic neutrophilic leukemia loeys-dietz syndrome caused by mutation in tgfbr2 loeys-dietz syndrome type 2 loeys-dietz syndrome type ii marfan like connective tissue disorder marfan syndrome type 2 marfan syndrome, type 2 (formerly) mfs 2 tgfbr2 loeys-dietz syndrome tgfbr2-related loeys-dietz syndrome tgfbr2-related thoracic aortic aneurysms and aortic dissections Loeys-dietz syndrome 2 ADLD adult-onset autosomal dominant leukodystrophy autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease leukodystrophy, adult-onset, autosomal dominant Adult-onset autosomal dominant demyelinating leukodystrophy loeys-dietz syndrome caused by mutation in tgfb2 loeys-dietz syndrome type 4 tgfb2 loeys-dietz syndrome tgfb2-related loeys-dietz syndrome Loeys-dietz syndrome 4 mesoaxial synostotic syndactyly with phalangeal reduction syndrome mssd syndactyly malik percin type syndactyly type 9 syndactyly, malik-percin type Mesoaxial synostotic syndactyly with phalangeal reduction 1q21.1 microduplication syndrome 1q21.1 recurrent microduplication 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders) chromosome 1q21.1 duplication syndrome, isolated cases dup(1)(q21.1) trisomy 1q21.1 Chromosome 1q21.1 duplication syndrome 19q13.11 microdeletion syndrome Del(19)(q13.11) monosomy 19q13.11 Chromosome 19q13.11 deletion syndrome acute infantile liver failure due to synthesis defect of mitochondrial dna-encoded proteins infantile liver failure caused by mutation in trmu lfit liver failure acute infantile liver failure, infantile, transient liver failure, transient infantile transient infantile liver failure trmu infantile liver failure Acute infantile liver failure due to synthesis defect of mtdna-encoded proteins cerebral folate deficiency cerebral folate receptor alpha deficiency folate receptor deficiency Neurodegenerative syndrome due to cerebral folate transport deficiency bifid nose, anorectal anomaly, renal anomaly syndrome bnar (bifid nose, anorectal anomaly, renal anomaly) syndrome BNAR syndrome cais cais - complete androgen insensitivity syndrome complete androgen resistance syndrome Complete androgen insensitivity syndrome chemodectomas neoplasm of carotid body paraganglioma, carotid body, somatic Carotid body paraganglioma Delleman syndrome Delleman-Oorthuys syndrome Leichtman-Wood-Rohn syndrome OCCS orbital cyst with cerebral and focal dermal malformations Oculocerebrocutaneous syndrome combined pituitary hormone deficiencies, genetic form caused by mutation in pou1f1 cphd1 pituitary hormone deficiency, combined or isolated, 1 pou1f1 combined pituitary hormone deficiencies, genetic form pou1f1-related combined pituitary hormone deficiency Pituitary hormone deficiency, combined, 1 combined pituitary hormone deficiency genetic form familial congenital hypopituitarism genetic hypopituitarism multiple pituitary hormone deficiencies, genetic forms multiple pituitary hormone deficiency genetic form pituitary hormone deficiency, combined Combined pituitary hormone deficiencies, genetic form combined pituitary hormone deficiency type 3 lhx3-related combined pituitary hormone deficiency non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome pituitary hormone deficiency, combined, type 3 wbp syndrome winkelman bethge pfeiffer syndrome Non-acquired combined pituitary hormone deficiency with spine abnormalities lhx4-related combined pituitary hormone deficiency pituitary hormone deficiency, combined, type 4 Short stature-pituitary and cerebellar defects-small sella turcica syndrome Acrocapitofemoral dysplasia ao3 atelosteogenesis type 3 Atelosteogenesis type iii growth delay due to insulin-like growth factor 1 resistance igf-1 (insulin-like growth factor 1) resistance insulin-like growth factor i resistance resistance to igf-1 somatomedin c resistance Growth delay due to insulin-like growth factor i resistance Campomelia, cumming type semd, matn3-related semd, matrilin-3 type semdbcd spondyloepimetaphyseal dysplasia, borochowitz-cormier-daire type spondyloepimetaphyseal dysplasia, matn3-related Spondyloepimetaphyseal dysplasia, matrilin-3 type Rivera-Perez-Salas syndrome thoracolimb dysplasia, Rivera type Thoracomelic dysplasia Chondrodysplasia calcificans metaphysealis adult onset adrenoleukodystrophy amn amn - adrenomyeloneuropathy Adrenomyeloneuropathy Hereditary hemorrhagic telangiectasia type 4 smed, type ii Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome congenital anophthalmos with cyst congenital cystic eyeball Congenital cystic eye SEMD type 2 SEMD, Missouri type spondyloepimetaphyseal dysplasia type 2 Spondyloepimetaphyseal dysplasia, missouri type oi9 osteogenesis imperfecta caused by mutation in ppib osteogenesis imperfecta type ix ppib osteogenesis imperfecta ppib-related osteogenesis imperfecta Osteogenesis imperfecta type 9 Camptobrachydactyly smc1 Smith-McCort dysplasia Genochondromatosis metaphyseal dysplasia without hypotrichosis (mdwh) Metaphyseal dysplasia without hypotrichosis Cleidocranial dysplasia, recessive form autosomal dominant spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda, autosomal dominant c8 deficiency, type ii c8b classic complement early component deficiency classic complement early component deficiency caused by mutation in c8b complement c8 deficiency, type ii Type II complement component 8 deficiency c8 deficiency, type i c8a classic complement early component deficiency classic complement early component deficiency caused by mutation in c8a complement c8 deficiency, type i Type I complement component 8 deficiency growth delay, deafness, intellectual disability syndrome growth delay-deafness- intellectual disability syndrome growth delay-deafness-intellectual disability syndrome growth delay-hearing loss-intellectual disability syndrome growth retardation with deafness and mental retardation due to igf1 deficiency igf-1 (insulin-like growth factor 1) deficiency igf-1 deficiency igf1d primary insulin-like growth factor deficiency Growth delay due to insulin-like growth factor type 1 deficiency spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome spondyloepiphyseal dysplasia cantu type spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome tattoo dysplasia Spondyloepiphyseal dysplasia, cantu type camptospasm idiopathic camptocormism idiopathic progressive lumbar kyphosis Idiopathic camptocormia congenital familial intractable diarrhea with epithelial or epithelium abnormalities congenital familial intractable diarrhoea with epithelial or epithelium abnormalities congenital tufting enteropathy diar5 epcam secretory diarrhea epcam secretory diarrhoea ied intestinal epithelial dysplasia non-syndromic congenital tufting enteropathy secretory diarrhea caused by mutation in epcam secretory diarrhoea caused by mutation in epcam tufting enteropathy Congenital diarrhea 5 with tufting enteropathy pxa Pleomorphic xanthoastrocytoma sega sega - subependymal giant cell astrocytoma subependymal giant cell astrocytic tumour subependymal giant cell astrocytoma (morphologic abnormality) Subependymal giant-cell astrocytoma ependymoma, benign myxopapillary ependymoma (morphologic abnormality) Myxopapillary ependymoma anaplastic ependymal tumour ependymoma, anaplastic ependymoma, anaplastic, malignant ependymoma, malignant high-grade ependymoma malignant epithelial ependymoma undifferentiated ependymal tumour who grade iii ependymal tumour Anaplastic ependymoma astroblastoma (morphologic abnormality) Astroblastoma amoa Anaplastic oligoastrocytoma Gangliocytoma ganglioglioma, anaplastic Anaplastic ganglioglioma camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome goodman camptodactyly Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia dnet dnt dysembryoplastic neuroepithelial tumor (morphologic abnormality) dysembryoplastic neuroepithelial tumour (morphologic abnormality) Dysembryoplastic neuroepithelial tumor central neurocytoma - histology lipomatous medulloblastoma medullocytoma neurolipocytoma Central neurocytoma liponeurocytoma of cerebellum Cerebellar liponeurocytoma carney dyad carney stratakis dyad carney stratakis syndrome carney-stratakis dyad gist-paraganglioma dyad paraganglioma and gastric stromal sarcoma paraganglioma and gastric stromal sarcoma syndrome sdhb-related paraganglioma and gastric stromal sarcoma sdhc-related paraganglioma and gastric stromal sarcoma sdhd-related paraganglioma and gastric stromal sarcoma Carney-stratakis syndrome pineal parenchymal tumor of intermediate differentiation (morphologic abnormality) pineal parenchymal tumour of intermediate differentiation (morphologic abnormality) Pineal parenchymal tumor of intermediate differentiation dermoid cyst with secondary tumor Teratoma with malignant transformation SmD-CRD Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome retinal cone dystrophy 3 retinal cone dystrophy type 3A Retinal cone dystrophy 3a cone dystrophy with supernormal rod electroretinogram cone dystrophy with supernormal rod erg cone dystrophy with supernormal scotopic electroretinogram retinal cone dystrophy type 3b Cone dystrophy with supernormal rod response CACNA2D4 cone dystrophy cone dystrophy caused by mutation in CACNA2D4 retinal cone dystrophy type 4 Retinal cone dystrophy 4 cone-rod dystrophy type 1 cone-rod retinal dystrophy-1 cord1 Cone-rod dystrophy 1 COD1 CORDX1 X-linked cone dystrophy 1 X-linked cone-rod dystrophy type 1 cone-rod dystrophy, X-linked, 1, X-linked recessive cone-rod dystrophy, X-linked, type 1 X-linked cone-rod dystrophy 1 ABCA4 cone-rod dystrophy CORD3 cone-rod dystrophy caused by mutation in ABCA4 cone-rod dystrophy type 3 Cone-rod dystrophy 3 CORDX3 X-linked cone-rod dystrophy type 3 cone-rod dystrophy, X-linked, 3, X-linked recessive cone-rod dystrophy, X-linked, type 3 X-linked cone-rod dystrophy 3 CORD5 PITPNM3 cone-rod dystrophy cone-rod dystrophy caused by mutation in PITPNM3 cone-rod dystrophy type 5 Cone-rod dystrophy 5 cone dystrophy progressive cone-rod dystrophy caused by mutation in gucy2d cone-rod dystrophy type 6 cord6 gucy2d cone-rod dystrophy rcd2 retinal cone dystrophy 2 Cone-rod dystrophy 6 baroreflex failure syndrome Baroreflex failure autosomal dominant focal dystonia dyt25 type dystonia type 25 dystonic disorder caused by mutation in gnal gnal dystonic disorder Dystonia 25 Camptodactyly syndrome, guadalajara type 1 MEC mucoepidermoid carcinoma (morphologic abnormality) mucoepidermoid tumor mucoepidermoid tumour Mucoepidermoid carcinoma metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator metachromatic leukodystrophy due to sap-b deficiency metachromatic leukodystrophy due to saposin b deficiency sapi - sphingolipid activator protein i deficiency Sphingolipid activator protein 1 deficiency Gaucher disease collodion type Gaucher disease, collodion type Gaucher disease, perinatal lethal Gaucher disease, perinatal-lethal form Gaucher's disease perinatal lethal fetal Gaucher disease foetal Gaucher disease perinatal lethal Gaucher disease Gaucher disease perinatal lethal adtkd-umod adtkd1 autosomal dominant medullary cystic kidney disease type 2 autosomal dominant medullary cystic kidney disease with hyperuricemia autosomal dominant tubulo-interstitial kidney disease autosomal dominant tubulointerstitial kidney disease - umod autosomal dominant tubulointerstitial kidney disease due to mutations in umod familial juvenile hyperuricemic nephropathy caused by mutation in umod fjhn type 1 glomerulocystic kidney disease with hyperuricemia and isosthenuria hnfj1 hyperuricemic nephropathy, familial juvenile, 1 hyperuricemic nephropathy, familial juvenile, type 1 medullary cystic kidney disease 2 medullary cystic kidney disease type 2 medullary cystic kidney disease type ii tubulointerstitial kidney disease, autosomal dominant, 1 umod familial juvenile hyperuricemic nephropathy umod-associated familial juvenile hyperuricemic nephropathy umod-associated fjhn umod-associated kidney disease umod-related adtkd umod-related kidney disease uromodulin storage disease uromodulin-associated kidney disease Familial juvenile hyperuricemic nephropathy type 1 Camptodactyly syndrome, guadalajara type 2 php ib pseudohypoparathyroidism ib pseudohypoparathyroidism ib (php-ib) Pseudohypoparathyroidism type 1b php ic pseudohypoparathyroidism ic Pseudohypoparathyroidism type 1c pseudohypoparathyroidism type 2 Pseudohypoparathyroidism type II adult-onset pls adult-onset primary lateral sclerosis lateral sclerosis pls Primary lateral sclerosis adult basal ganglia disease adult onset basal ganglia disease basal ganglia disease, adult-onset ferritin related neurodegeneration ferritin-related neurodegeneration hereditary ferritinopathy nbia3 neurodegeneration with brain iron accumulation type 3 neuroferritinopathy Neuroferritinopathy anad atypical neuroaxonal dystrophy (anad) nbia2b neuroaxonal dystrophy, atypical neurodegeneration with brain iron accumulation type 2b Neurodegeneration with brain iron accumulation 2b camptodactyly taurinuria syndrome familial streblodactyly with amino-aciduria Camptodactyly-taurinuria syndrome ofd oral-facial-digital syndrome orodigitofacial dysostosis orofacial-digital syndrome Orofaciodigital syndrome Orofaciodigital syndrome type 12 Degner syndrome OFD13 oral-facial-digital syndrome type 13 Orofaciodigital syndrome type 13 ASD ostium primum type ASD, ostium primum type PAVC PAVSD atrial septal defect ostium primum atrioventricular defect with atrial shunting only incomplete atrioventricular canal defect with isolated atrial component incomplete atrioventricular septal defect with isolated atrial component ostium primum ASD partial atrioventricular canal defect with isolated atrial component partial atrioventricular septal defect partial atrioventricular septal defect: ostium primum type primum atrial septal defect Atrial septal defect, ostium primum type asd, sinus venosus type atrial septal defect, sinus venosus type sinus venosus defect Sinus venosus atrial septal defect asd, coronary sinus type atrial septal defect coronary sinus atrial septal defect, coronary sinus type unroofed coronary sinus Coronary sinus atrial septal defect mrt32 norman disease pch1 pch1 - pontocerebellar hypoplasia type 1 pontocerebellar hypoplasia type 1 Congenital pontocerebellar hypoplasia type 1 congenital pontocerebellar hypoplasia type 2 pch2 - pontocerebellar hypoplasia type 2 Pontocerebellar hypoplasia type 2 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease hepatic cirrhosis, dystonia, polycythemia and hypermanganesemia hmdpc - hypermanganesemia with dystonia, polycythemia and cirrhosis Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome congenital deafness with inner ear agenesis, microtia, and microdontia congenital deafness with labyrinthine aplasia, microtia and microdontia deafness, congenital with inner ear agenesis, microtia, and microdontia hearing loss with labyrinthine aplasia, microtia, and microdontia lamm syndrome microdontia-type i microtia-deafness syndrome microdontia-type i microtia-hearing loss syndrome Deafness with labyrinthine aplasia, microtia, and microdontia cerebellar atrophy with progressive microcephaly clam congenital pontocerebellar hypoplasia type 3 non-syndromic pontocerebellar hypoplasia caused by mutation in pclo pch without dyskinesia pch3 pch3 - pontocerebellar hypoplasia type 3 pclo non-syndromic pontocerebellar hypoplasia Pontocerebellar hypoplasia type 3 congenital pontocerebellar hypoplasia type 5 fetal onset olivopontocerebellar hypoplasia pch5 - pontocerebellar hypoplasia type 5 Pontocerebellar hypoplasia type 5 Camptomelic syndrome, long-limb type congenital pontocerebellar hypoplasia type 6 fatal infantile encephalopathy with mitochondrial respiratory chain defect fatal infantile encephalopathy with mitochondrial respiratory chain defects non-syndromic pontocerebellar hypoplasia caused by mutation in rars2 pch6 pch6 - pontocerebellar hypoplasia type 6 rars2 non-syndromic pontocerebellar hypoplasia Pontocerebellar hypoplasia type 6 progressive transformation of Germinal centres Progressive transformation of germinal centers Alcock syndrome Pudendalgia neuralgia of pudendal nerve pudendal algia pudendal nerve entrapment syndrome pudendal nerve neuralgia pudendal neuralgia by pudendal nerve entrapment Pudendal neuralgia neurofibromatosis 1-like syndrome nf1-like syndrome nfls - neurofibromatosis type 1-like syndrome Legius syndrome Diploid-triploid mosaicism 17-beta-hydroxysteroid dehydrogenase 10 deficiency 17-beta-hydroxysteroid dehydrogenase x deficiency 2-methyl-3-hydroxybutyric aciduria 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency 3-hydroxyacyl-coa dehydrogenase 2 deficiency chorioathetosis with mental retardation and abnormal behaviour hsd10 deficiency hsd10 disease hsd10 mitochondrial disease, x-linked dominant hsd10md hsd17b10 deficiency mental retardation with chorioathetosis and abnormal behaviour mhbd deficiency Hsd10 mitochondrial disease heinz body anaemia heinz body anemias, alpha- heinz body hemolytic anemia Heinz body anemia mazzanti syndrome ns/lah tosti syndrome Noonan syndrome-like disorder with loose anagen hair camurati-engelmann disease camurati-englemann disease diaphyseal sclerosis engelman's disease engelmann syndrome engelmann's disease osteopathia hyperostotica multiplex infantis progressive diaphyseal dysplasia Diaphyseal dysplasia kansl1-related intellectual disability syndrome kdvs koolen de vries syndrome Koolen-de vries syndrome PRKAG2 glycogen storage disease fatal congenital hypertrophic cardiomyopathy due to GSD fatal congenital hypertrophic cardiomyopathy due to glycogenosis fatal congenital nonlysosomal cardiac glycogenosis glycogen storage disease caused by mutation in PRKAG2 phosphorylase kinase deficiency of heart Lethal congenital glycogen storage disease of heart chronic visceral acid sphingomyelinase deficiency chronic visceral asmd niemann-pick disease non-neuropathic type niemann-pick disease type b niemann-pick disease, chronic non-neuronopathic npd-b Niemann-Pick disease, type B pnpo-related neonatal epileptic encephalopathy pyridox(am)ine 5’-phosphate oxidase deficiency pyridoxal 5-phosphate dependent epilepsy pyridoxal phosphate-dependent seizures pyridoxamine 5'-oxidase deficiency pyridoxamine 5'-phosphate oxidase deficiency pyridoxine 5' phosphate oxidase deficiency Pyridoxal phosphate-responsive seizures blood group deletion syndrome mcleod syndrome mcleod syndrome with or without chronic granulomatous disease mls x-linked mcleod syndrome McLeod neuroacanthocytosis syndrome LCC leukoencephalopathy, brain calcifications, and cysts Leukoencephalopathy with calcifications and cysts pleuro-pulmonary blastoma familial tumor susceptibility syndrome pleuro-pulmonary blastoma familial tumour susceptibility syndrome pleuropulmonary blastoma familial tumor and dysplasia syndrome pleuropulmonary blastoma familial tumor susceptibility syndrome pleuropulmonary blastoma familial tumour susceptibility syndrome pleuropulmonary blastoma family tumor susceptibility syndrome ppb familial tumor susceptibility syndrome ppb familial tumour susceptibility syndrome ppbftds DICER1-related tumor predisposition glaucomatocyclitic crises glaucomatocyclitic crisis disease posner-schlossman syndrome terrien-viel syndrome Glaucomatocyclitic crisis hoga1 primary hyperoxaluria primary hyperoxaluria caused by mutation in hoga1 Primary hyperoxaluria type 3 cerebromacular degeneration cerebromacular dystrophy ceroid lipofuscinoses hereditary ceroid lipofuscinosis ncl pigmentary retinal lipoid neuronal heredodegeneration Neuronal ceroid lipofuscinosis 16p11.2 microdeletion autism susceptibility 14a chromosome 16p11.2 deletion syndrome, 593kb proximal del(16)(p11.2) proximal monosomy 16p11.2 Proximal 16p11.2 microdeletion syndrome spondyloepimetaphyseal dysplasia handigodu type Spondyloepimetaphyseal dysplasia, handigodu type conjunctiva melanoma (disease) conjunctival malignant melanoma melanoma (disease) of conjunctiva Malignant conjunctival melanoma sle glomerulonephritis syndrome sle nephritis systemic lupus erythematosus glomerulonephritis syndrome Lupus nephritis ebs eeb epidermolysis bullosa simplex with mottled pigmentation (subtype) epidermolysis bullosa simplex, dowling-meara type (subtype) epidermolysis bullosa simplex, weber-cockayne type (subtype) Epidermolysis bullosa simplex Jackson-Lawler type pachyonychia congenita Jadassohn-Lewandowsky syndrome PC pachyonychia congenita, Jadassohn-Lewandowsky type Pachyonychia congenita syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 16p13.3 microduplication syndrome chromosome 16p13.3 duplication syndrome, isolated cases distal duplication 16p distal trisomy 16p dup(16)(p13.3) telomeric duplication 16p trisomy 16pter Chromosome 16p13.3 duplication syndrome dominant multiple epiphyseal dysplasia edm fairbanks-ribbing type epiphyseal dysplasia med med - multiple epiphyseal dysplasia multiple epiphyseal dysplasia (disease) polyepiphyseal dysplasia Multiple epiphyseal dysplasia constitutional chronic hypocalcemia familial pseudohypoparathyroidism parathyroid hormone resistant hypoparathyroidism php1a Pseudohypoparathyroidism Disseminated candidiasis GSD due to muscle and heart glycogen synthase deficiency GSD type 0b glycogen storage disease due to glycogen synthase deficiency of heart glycogen storage disease type 0b glycogenosis due to muscle and heart glycogen synthase deficiency glycogenosis type 0b heart glycogen storage disease due to glycogen synthase deficiency Glycogen storage disease due to muscle and heart glycogen synthase deficiency 2-hydroxyglutaric acidemia d2l2ad 2-hydroxyglutaric aciduria CALJA calcification of joints and arteries Hereditary arterial and articular multiple calcification syndrome gnmt deficiency hypermethioninemia due to deficiency of glycine n-methyltransferase hypermethioninemia due to glycine n-methyltransferase deficiency hypermethioninemia due to gnmt (glycine n-methyltransferase) deficiency hypermethioninemia due to gnmt deficiency Glycine n-methyltransferase deficiency congenital factor xiii deficiency deficiency, laki-lorand factor laki-lorand factor deficiency disease Hereditary factor XIII deficiency disease carbohydrate deficient glycoprotein syndrome type iib cdg syndrome type iib cdg-iib cdg2b congenital disorder of glycosylation type 2b congenital disorder of glycosylation type iib glucosidase 1 deficiency glucosidase i deficiency mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation mogs cdg - mannosyl-oligosaccharide glycosidase congenital disorder of glycosylation mogs-cdg MOGS-congenital disorder of glycosylation hemiplegic migraine Familial or sporadic hemiplegic migraine Gowers disease Laing distal myopathy Laing early-onset distal myopathy MPD1 distal myopathy type 1 myopathy, distal, type 1 MYH7-related skeletal myopathy candf chronic candidiasis of mucosa, skin and nails chronic mucocutaneous candidiasis (disease) cmc cmc - chronic mucocutaneous candidiasis familial candidiasis familial cmc mucocutaneous candidiasis Chronic mucocutaneous candidiasis high urine homocystine levels homocystinuria (disease) Homocystinuria anosmia eunuchoidism anosmic hypogonadism anosmic idiopathic hypogonadotropic hypogonadism congenital hypogonadotropic hypogonadism with anosmia dysplasia olfactogenitalis of de morsier dysplasia olfactogenitalis of de morsier (formerly) familial hypogonadism with anosmia gonadotrophin deficiency with anosmia hypogonadotropic hypogonadism-anosmia syndrome kallman syndrome kallman's syndrome kallmann's syndrome ks olfacto-genital pathological sequence olfactogenital dysplasia Hypogonadism with anosmia hypogonadotropic hypogonadism 4 with anosmia hypogonadotropic hypogonadism caused by mutation in prok2 prok2 hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 4 with or without anosmia chd7 hypogonadotropic hypogonadism hypogonadotrophic hypogonadism 5 without anosmia hypogonadotropic hypogonadism 5 with anosmia hypogonadotropic hypogonadism caused by mutation in chd7 Hypogonadotropic hypogonadism 5 with or without anosmia fgf8 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 6 with anosmia hypogonadotropic hypogonadism 6 without anosmia hypogonadotropic hypogonadism caused by mutation in fgf8 Hypogonadotropic hypogonadism 6 with or without anosmia Syndromic multisystem autoimmune disease due to itch deficiency cystic mesothelioma of peritoneum multicystic mesothelioma peritoneal cystic mesothelioma Peritoneal multicystic mesothelioma neutrophil-specific granule deficiency recurrent infection due to specific granule deficiency sgd - specific granule deficiency Specific granule deficiency clippers clippers - chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids cantalamessa-baldini-ambrosi syndrome hypogonadism with mitral valve prolapse and intellectual disability syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome dip-nech dipnech dipnech - diffuse idiopathic pulmonary neuroendocrine cell hyperplasia Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia retinoschisis with early nyctalopia Goldmann-Favre syndrome hereditary progressive arthroophthalmopathy stickler dysplasia wagner-stickler syndrome Stickler syndrome Bilateral frontal polymicrogyria bfpp - bilateral frontoparietal polymicrogyria cortical dysplasia, complex, with other brain malformations 14a (bilateral frontoparietal) Bilateral frontoparietal polymicrogyria Bilateral parasagittal parieto-occipital polymicrogyria bilateral generalised polymicrogyria diffuse polymicrogyria microcephaly, short stature, and polymicrogyria with seizures Bilateral generalized polymicrogyria aortic aneurysm syndrome due to tgf-beta receptors anomalies lds Loeys-Dietz syndrome cone-rod degeneration cone-rod retinal dystrophy cone/cone-rod dystrophy crd prph2-related cone-rod dystrophy unc119-related cone-rod dystrophy Cone-rod dystrophy LPA Logopenic primary progressive aphasia Logopenic variant PPA Logopenic progressive aphasia dementia, frontotemporal semantic primary progressive aphasia semantic variant ppa trouble remembering words Semantic dementia agramatic variant of ppa agramatic variant of primary progressive aphasia non-fluent variant ppa progressive non-fluent aphasia Primary progressive non fluent aphasia paroxysmal hemicrania (headache one side of head) Paroxysmal hemicrania Hemicrania continua alarm clock headache hypnic headache (associated with sleep) hypnic headache (disease) Hypnic headache apbd polyglucosan body disease adult form Adult polyglucosan body disease adtkd autosomal dominant interstitial kidney disease autosomal dominant medullary cystic kidney disease familial juvenile hyperuricemic nephropathy Autosomal dominant medullary cystic kidney disease with or without hyperuricemia classic lamellar ichthyosis collodion baby congenital lamellar ichthyosis li Lamellar ichthyosis Metaplastic breast carcinoma adenomas, multiple colorectal adenomas, multiple colorectal, autosomal recessive colorectal adenomatous polyposis, autosomal recessive familial adenomatous polyposis, 2 familial adenomatous polyposis, type 2 fap type 2 fap2 map mutyh-related afap mutyh-related attenuated familial adenomatous polyposis mutyh-related attenuated familial polyposis coli mutyh-related attenuated fap Familial adenomatous polyposis 2 dee9 early infantile epileptic encephalopathy 9 early infantile epileptic encephalopathy caused by mutation in pcdh19 early infantile epileptic encephalopathy type 9 early infantile female-limited epilecptic encephalopathy efmr eiee9 epileptic encephalopathy, early infantile, type 9 familial epilepsy and intellectual disability limited to females female restricted epilepsy with intellectual disability juberg hellman syndrome juberg-hellman syndrome pcdh19 early infantile epileptic encephalopathy pcdh19-related x-linked female-limited epilepsy with mental retardation Developmental and epileptic encephalopathy, 9 Hirata disease Insulin autoimmune syndrome POIS Postorgasmic illness syndrome dysmyelinating leukodystrophy and spastic paraparesis fahn fatty acid hydroxylase associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration 1q21.1 contiguous gene deletion 1q21.1 deletion 1q21.1 microdeletion syndrome 1q21.1 recurrent microdeletion 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) chromosome 1q21.1 deletion syndrome, isolated cases del(1)(q21) microdeletion of chromosome 1q21.1 monosomy 1q21.1 Chromosome 1q21.1 deletion syndrome hashitoxic periodic paralysis thyrotoxic hypokalemic periodic paralysis Thyrotoxic periodic paralysis factor v r2 mutation thrombophilia prothrombin thrombophilia prothrombin-related thrombophilia prothrombin-related thrombophilia (factor ii) thrombophilia 1 due to thrombin defect thrombosis susceptibility venous thromboembolism, susceptibility to venous thrombosis, protection against Thrombophilia due to thrombin defect lichen planus pigmentosa lichen planus pigmentosus inversus lp pigmentosa lp pigmentosus post-inflammatory hyperpigmentation in lichen planus Lichen planus pigmentosus REEP1 hereditary spastic paraplegia SPG31 autosomal dominant spastic paraplegia 31 autosomal dominant spastic paraplegia type 31 hereditary spastic paraplegia caused by mutation in REEP1 hereditary spastic paraplegia type 31 Hereditary spastic paraplegia 31 cmamma cmamma - combined malonic and methylmalonic aciduria combined malonic and methylmalonic aciduria Combined malonic and methylmalonic acidemia eastern equine encephalitis virus infection eastern equine encephalitis virus neuroinvasive disease eastern equine encephalomyelitis eee - eastern equine encephalitis encephalitis, eastern equine neuroinvasive eastern equine encephalitis virus disease neuroinvasive eastern equine encephalitis virus infection Eastern equine encephalitis idiopathic SCAD Idiopathic spontaneous coronary artery dissection obesity, adrenal insufficiency, and red hair due to pomc deficiency proopiomelanocortin deficiency syndrome Obesity due to pro-opiomelanocortin deficiency acth-independent macronodular adrenal hyperplasia acth-independent macronodular adrenocortical hyperplasia hypercortisolism due to macronodular adrenal hyperplasia primary bilateral macronodular adrenal hyperplasia Cushing syndrome due to macronodular adrenal hyperplasia Central centrifugal cicatricial alopecia familial benign hypercalcemia familial benign hypocalciuric hypercalcemia fhh - familial hypocalciuric hypercalcemia Familial hypocalciuric hypercalcemia familial cystic parathyroid adenomatosis hpt-jt hyperparathyroidism type 2 hyperparathyroidism-2 hyperparathyroidism-jaw tumour syndrome parathyroid adenoma with cystic changes Hyperparathyroidism 2 with jaw tumors Ito's Nevus nevi of Ito nevus fuscocaeruleus acromiodeltoideus Nevus of ito Ring chromosome type 2 rose cluster 2 Ring chromosome 2 Ring chromosome type 3 rose cluster 3 Ring chromosome 3 avls capillary hyperpermeability syndrome clarkson disease cls idiopathic capillary leak syndrome scls systemic capillary leak syndrome Capillary leak syndrome ring chromosome type 5 Ring chromosome 5 RC11 Ring chromosome type 11 r(11) syndrome Ring chromosome 11 Ring chromosome type 16 Ring chromosome 16 21q deletion syndrome 21q- syndrome monosomy type 21 partial 21q monosomy Monosomy 21 proximal 18q deletion proximal 18q deletion syndrome proximal 18q- Proximal chromosome 18q deletion syndrome trisomy 13 mosaicism Mosaic trisomy 13 Free sialic acid storage disease malig. periph. nerve sheath tum. malignant neoplasm of peripheral nerve sheath malignant neoplasm of the peripheral nerve sheath malignant neurilemmoma malignant neurilemoma malignant neurofibroma malignant peripheral nerve sheath tumor (morphologic abnormality) malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) malignant peripheral nerve sheath tumour (morphologic abnormality) malignant peripheral nerve sheath tumour [dup] (morphologic abnormality) malignant schwannoma malignant tumor of peripheral nerve sheath malignant tumor of the peripheral nerve sheath malignant tumour of peripheral nerve sheath malignant tumour of the peripheral nerve sheath mpnst mpnst - malignant peripheral nerve sheath tumor neurofibrosarcoma, malignant neurogenic sarcoma schwannoma, malignant Malignant peripheral nerve sheath tumor heterotaxia heterotaxy, visceral incomplete situs inversus lateralization defect partial situs inversus situs ambiguous situs ambiguus Visceral heterotaxy congenital radioulnar synostosis fused forearm bones radioulnar fusion radioulnar synostosis (disease) Radioulnar synostosis tumoral calcinosis Familial tumoral calcinosis normocalcemic tumoral calcinosis tumoral calcinosis, familial, normophosphatemic Normophosphatemic familial tumoral calcinosis cortical hyperostosis with hyperphosphatemia familial teutschlaender disease hftc hypercalcemic tumoral calcinosis hyperostosis with hyperphosphatemia hyperphosphatemia hyperostosis hyperphosphatemia hyperostosis syndrome hyperphosphatemia tumoral calcinosis lipocalcinogranulomatosis morbus teutschlaender phptc primary hyperphosphatemic tumoral calcinosis tumoral calcinosis with hyperphosphatemia tumoral calcinosis, hyperphosphatemic, familial Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome FFA Frontal fibrosing alopecia Kempson-Campanacci lesion OFD OSFD cortical fibrous dysplasia ossifying fibroma of long bones osteofibrous dysplasia of bone tibia, bowing of, with pseudarthrosis and pectus excavatum Osteofibrous dysplasia angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures hanac hanac - hereditary angiopathy with nephropathy, aneurysms, and muscle cramps hanac syndrome hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome nich nich - non-involuting congenital hemangioma nich - noninvoluting congenital hemangioma noninvoluting congenital hemangioma Non-involuting congenital hemangioma Beta-galactosidase-1 deficiency GLB1 deficiency GM>1< gangliosidosis Landing disease Landing syndrome beta-galactosidase deficiency deficiency of beta-galactosidase gangliosidosis GM1 GM1 gangliosidosis blepharophimosis intellectual disability syndrome blepharophimosis, intellectual disability syndrome blepharophimosis-intellectual disability syndrome bmrs Blepharophimosis - intellectual disability syndrome b-cell lymphoma unclassifiable with features intermediate between classical hodgkin lymphoma and diffuse large b-cell lymphoma grey zone lymphoma B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical hodgkin lymphoma adult pure red-cell aplasia primary acquired prca primary acquired pure red cell aplasia pure red-cell aplasia of adults Adult pure red cell aplasia ibmpfd ibmpfd - inclusion body myopathy with early onset paget disease and frontotemporal dementia inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia inclusion body myopathy with paget disease of bone and/or frontotemporal dementia inclusion body myopathy with paget's disease of bone and frontotemporal dementia inclusion body myopathy/paget disease/frontotemporal dementia limb-girdle muscular dystrophy with paget disease of bone lower motor neuron degeneration with paget-like bone disease muscular dystrophy limb-girdle with paget disease of bone pagetoid amyotrophic lateral sclerosis pagetoid neuroskeletal syndrome Inclusion body myopathy with paget disease of bone and frontotemporal dementia cutaneous ossification cutaneous osteosis familial ectopic ossification miliary osteoma osseus heteroplasia, progressive osteodermia osteomatosis osteosis cutis poh progressive osseus heteroplasia (poh) Progressive osseous heteroplasia diffuse gastric and lobular breast cancer syndrome familial diffuse cancer of stomach familial diffuse gastric cancer fdgc hdgc hereditary diffuse cancer of stomach hereditary diffuse gastric cancer Hereditary diffuse gastric adenocarcinoma Neuroacanthocytosis brachyrachia Brachyolmia Pityriasis rotunda cole-engmann-zinsser syndrome congenital dyskeratosis dc dkc dkc - dyskeratosis congenita zinsser-cole-engman syndrome zinsser-cole-engmann syndrome Dyskeratosis congenita pigmented nodular adrenocortical disease pigmented nodular adrenocortical disease, primary Primary pigmented nodular adrenocortical disease Cid due to MAGT1 deficiency XMEN combined immunodeficiency due to MAGT1 deficiency immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, X-linked recessive X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia adult onset vitelliform dystrophy adult vitelliform macular dystrophy adult-onset foveomacular dystrophy adult-onset foveomacular dystrophy with choroidal neovascularization adult-onset vitelliform macular dystrophy aofmd aofmd - adult-onset foveomacular dystrophy avmd avmd - adult vitelliform macular dystrophy foveomacular dystrophy, adult-onset foveomacular dystrophy, adult-onset, with or without choroidal neovascularization gass disease macular dystrophy, vitelliform, type 3 pseudo-best disease pseudo-vitelliform macular dystrophy Adult-onset foveomacular vitelliform dystrophy condensing osteitis of the clavicle condensing osteitis of the medial clavicle medial condensing osteitis of clavicle osteitis condensans of medial clavicle osteitis condensans of the clavicle Medial condensing osteitis of the clavicle AIP Autoimmune pancreatitis ch??diak-higashi-like syndrome chediak-higashi-like syndrome chédiak-higashi-like syndrome griscelli syndrome with immunodeficiency griscelli-pruni??ras syndrome griscelli-pruniéras syndrome hypopigmentation-immunodeficiency disease partial albinism with immunodeficiency partial albinism-immunodeficiency syndrome Griscelli syndrome aseptic necrosis of femoral head aseptic necrosis of head of femur familial avascular necrosis of femoral head familial avascular necrosis of head of femur familial osteonecrosis of the femoral head Familial avascular necrosis of the femoral head duncan's syndrome familial fatal epstein-barr infection lymphoproliferative disease, x-linked lymphoproliferative syndrome, x-linked purtilo syndrome severe susceptibility to epstein-barr infection x linked lymphoproliferative syndrome xlps - x-linked lymphoproliferative syndrome X-linked lymphoproliferative syndrome lymphoproliferative syndrome, x-linked, 2, x-linked recessive lymphoproliferative syndrome, x-linked, type 2 x-linked lymphoproliferative syndrome type 2 xiap deficiency syndrome xiap deficiency/xlps xlp2 X-linked lymphoproliferative disease due to XIAP deficiency h-abc h-abc - hypomyelination, atrophy of basal ganglia and cerebellum habc hld6 hypomyelinating leukodystrophy type 6 hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum hypomyelination with atrophy of basal ganglia and cerebellum syndrome leukodystrophy, hypomyelinating, type 6 tubb4a-associated leukodystrophy Hypomyelinating leukodystrophy 6 ptcd ptcd - pontine tegmental cap dysplasia Pontine tegmental cap dysplasia Intraneural perineurioma 49,XXXYY syndrome Carney triad california encephalitis california virus encephalitis californian encephalitis la crosse virus caused infectious encephalitis la crosse virus encephalitis la crosse virus infectious encephalitis lac - la crosse encephalitis neuroinvasive california encephalitis virus infection La crosse encephalitis cryopyrinopathy nlrp3-associated systemic autoinflammatory disease Cryopyrin associated periodic syndrome bulbar palsy bulbar paralysis pbp - progressive bulbar palsy Progressive bulbar palsy nodular regenerative hyperplasia of liver nodular transformation of liver non-cirrhotic nodulation noncirrhotic nodulation partial nodular transformation of liver Nodular regenerative hyperplasia of the liver cardiac conduction defect progressive heart block, progressive familial, type i heart block, progressive, type ia lenegre syndrome lenegre-lev syndrome lev syndrome lev's disease lev's syndrome lev-lenègre disease progressive cardiac conduction defect progressive familial heart block caused by mutation in scn5a scn5a progressive familial heart block Progressive familial heart block, type 1A combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infection combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections dendritic cell, monocyte, b and nk lymphoid deficiency immunodeficiency type 21 monocyte-b natural killer dendritic cell deficiency syndrome monocyte-b-natural killer-dendritic cell deficiency syndrome monomac Monocytopenia with susceptibility to infections Del(16)(q24.3) monosomy 16q24.3 16q24.3 microdeletion syndrome 17q23.1-q23.2 microdeletion syndrome 17q23.1q23.2 microdeletion syndrome Del(17)(q23.1q23.2) chromosome 17q23.1-q23.2 deletion syndrome, isolated cases monosomy 17q23.1-q23.2 monosomy 17q23.1q23.2 Chromosome 17q23.1-q23.2 deletion syndrome BSCL4 Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy CAVIN1 congenital generalised lipodystrophy (disease) CAVIN1 congenital generalized lipodystrophy (disease) CGL4 GCL4 congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1 congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1 generalised congenital lipodystrophy type 4 generalised congenital lipodystrophy with myopathy generalized congenital lipodystrophy type 4 generalized congenital lipodystrophy with myopathy Congenital generalized lipodystrophy type 4 microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome mppc (microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma) syndrome mppc syndrome Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome clove syndrome, somatic cloves congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, somatic congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome Cloves syndrome cardiac diverticulum (disease) congenital cardiac diverticulum ventricular diverticulum Cardiac diverticulum slk slk - superior limbic keratoconjunctivitis superior limbic keratitis theodore superior limbic keratoconjunctivitis theodore syndrome theodore's superior limbic keratoconjunctivitis theodore's syndrome Superior limbic keratoconjunctivitis megalocornea, spherophakia, secondary glaucoma syndrome megalocornea-spherophakia-secondary glaucoma syndrome Glaucoma secondary to spherophakia/ectopia lentis and megalocornea Del(1)(q44) monosomy 1q44 1q44 microdeletion syndrome cdg syndrome type iil cdg-iil cdg2l cog6-cdg cog6-cgd cog6-cgd - component of oligomeric golgi complex 6-congenital disorder of glycosylation cog6-ongenital disorder of glycosylation component of oligomeric golgi complex 6-congenital disorder of glycosylation congenital disorder of glycosylation type 2l congenital disorder of glycosylation type iil COG6-congenital disorder of glycosylation short stature with optic atrophy and pelger-huët anomaly syndrome short stature, optic nerve atrophy, and pelger-huet anomaly short stature-optic atrophy-pelger-huc+t anomaly syndrome soph syndrome Short stature-optic atrophy-Pelger-Huët anomaly syndrome aseptic abscesses syndrome aseptic systemic abscesses corticosteroid sensitive aseptic abscess syndrome disseminated aseptic abscesses Corticosteroid-sensitive aseptic abscess syndrome ultraviolet sensitive syndrome uv (ultraviolet) sensitive syndrome uvss - ultraviolet sensitive syndrome UV-sensitive syndrome Erythropoietic uroporphyria associated with myeloid malignancy Non-24-Hour Sleep-Wake Disorder circadian rhythm sleep disorder, free running type circadian rhythm sleep disorder, free-running type hypernychthemeral syndrome non-24 Non-24-hour sleep-wake syndrome Necrobiotic xanthogranuloma 3 methylcrotonylglycinuria 3-methylcrotonylglycinuria 3mcc deficiency bmcc deficiency deficiency of methylcrotonoyl-coa carboxylase mcc deficiency mccd methylcrotonyl-coenzyme a carboxylase deficiency 3-methylcrotonyl-CoA carboxylase deficiency map2k1-related noonan syndrome noonan's syndrome ns turner phenotype, karyotype normal turner's phenotype, karyotype normal turner-like syndrome Noonan syndrome hies hies - hyperimmunoglobulin e syndrome hyper-ige recurrent infection syndrome Hyper-ige syndrome irida (iron-refractory iron deficiency anemia) syndrome iron-refractory iron deficiency anaemia iron-refractory iron deficiency anemia IRIDA syndrome albinismus totalis albinismus universalis complete perfect albinism complete universal albinism non-syndromic oculocutaneous albinism nonsyndromic oculocutaneous albinism oca oca - oculocutaneous albinism total albinism Oculocutaneous albinism FIPA Familial isolated pituitary adenoma congenital valvular dysplasia cvd1 cvdpx flna-related valvular dystrophy flna-related x-linked cardiac valvular dysplasia flna-related x-linked myxomatous valvular dysplasia myxomatous valvular dystrophy, x-linked valvular heart disease, congenital xmvd Cardiac valvular dysplasia, x-linked telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome Tempi syndrome chronic graft-versus-host disease graft versus host disease, chronic gvhd, chronic Chronic graft versus host disease bbds1 fgfr2-related bent bone dysplasia perinatal lethal bent bone dysplasia Bent bone dysplasia syndrome 1 SoJIA Still disease sJIA systemic polyarthritis systemic-onset JIA Systemic-onset juvenile idiopathic arthritis Polyarticular juvenile rheumatoid arthritis era juvenile era Enthesitis-related juvenile idiopathic arthritis jpsa psoriasis-related jia Psoriasis-related juvenile idiopathic arthritis distal 17q deletion distal monosomy type 17q monosomy 17qter telomeric deletion 17q Distal monosomy 17q adult-type amaurotic idiocy amaurotic idiocy adult type amaurotic idiocy late familial kufs type neuronal ceroid lipofuscinosis kufs' disease late familial amaurotic idiocy neuronal ceroid lipofuscinosis of adults Adult neuronal ceroid lipofuscinosis FHM hereditary hemiplegic migraine Familial hemiplegic migraine non-syndromic pontocerebellar hypoplasia pch pontoneocerebellar atrophy pontoneocerebellar hypoplasia pontoneocerebllar hypoplasia Pontocerebellar hypoplasia APS type 3 APS3 autoimmune polyendocrine syndrome type 3 autoimmune polyglandular syndrome type 3 Autoimmune polyendocrinopathy type 3 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia alsp autosomal dominant leukoencephalopathy with neuroaxonal spheroids csf1r-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia csf1r-related alsp csf1r-related hereditary diffuse leukoencephalopathy with spheroids dementia, familial, neumann type familial dementia, neumann type familial progressive subcortical gliosis fpsg gliosis, familial progressive subcortical gpsc hdls1 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia leukoencephalopathy with neuroaxonal spheroids, autosomal dominant leukoencephalopathy, adult-onset, with axonal spheroids and pigmented glia pigmentary orthochromatic leukodystrophy pold subcortical gliosis of neumann Leukoencephalopathy, diffuse hereditary, with spheroids 1 dsap - disseminated superficial actinic porokeratosis Disseminated superficial actinic porokeratosis IL12RB1 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency MSMD due to complete IL12RB1 deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in IL12RB1 immunodeficiency type 30 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency LVNC Lv non-compaction syndrome left ventricular hypertrabeculation left ventricular non-compaction cardiomyopathy left ventricular non-compaction syndrome left ventricular noncompaction (disease) spongy myocardium Left ventricular noncompaction granulomatous slack skin Granulomatous slack skin disease mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome mandibular hypoplasia-hearing loss-progeroid syndrome mdp syndrome mdpl syndrome Mandibular hypoplasia-deafness-progeroid syndrome Chromosome 15q25 deletion syndrome Del(19)(p13.12) monosomy 19p13.12 19p13.12 microdeletion syndrome autosomal recessive spastic ataxia caused by mutation in mtpap autosomal recessive spastic ataxia type 4 autosomal recessive spastic ataxia, optic atrophy, dysarthria syndrome mtpap autosomal recessive spastic ataxia spastic ataxia type 4 spax 4 - autosomal recessive spastic ataxia type 4 spax4 Spastic ataxia 4 absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome Genitopatellar syndrome Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly distal del(17)(p13.1) Distal 17p13.1 microdeletion syndrome smad3-related loeys-dietz syndrome smad3-related thoracic aortic aneurysms and aortic dissections Aneurysm-osteoarthritis syndrome Del(2)(q23.1) monosomy 2q23.1 pseudo-Angelman syndrome 2q23.1 microdeletion syndrome AHC adrenal hypoplasia congenita childhood alternating hemiplegia congenital adrenal Hypoplasia congenital adrenal gland hypoplasia paediatric alternating hemiplegia pediatric alternating hemiplegia Alternating hemiplegia of childhood capute-rimoin-konigsmark-esterly-richardson syndrome cardiomyopathic lentiginosis familial multiple lentigines syndrome generalised lentiginosis generalized lentiginosis gorlin syndrome ii lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded growth, deafness lentiginosis profusa syndrome leopard syndrome lentiginosis nsml progressive cardiomyopathic lentiginosis Noonan syndrome with multiple lentigines DHFR deficiency dihydrofolate reductase deficiency Constitutional megaloblastic anemia with severe neurologic disease fan1 interstitial nephritis interstitial nephritis caused by mutation in fan1 kin kin - karyomegalic interstitial nephritis kmin systemic karyomegaly Karyomegalic interstitial nephritis Becker Nevus Becker's Nevus linear papular ectodermal-mesodermal hamartoma melanosis Neviformis pigmented hairy Epidermal Nevus pigmented hairy Nevus of Becker progressive cribriform and zosteriform hyperpigmentation Linear and whorled nevoid hypermelanosis acute encephalitis with refractory repetitive partial seizures acute non-herpetic encephalitis with severe refractory status epilepticus aerrps desc (devastating epileptic encephalopathy in school-aged children) syndrome desc syndrome devastating epileptic encephalopathy in school-aged children febrile infection related epilepsy syndrome febrile infection-related epilepsy syndrome (fires) fever-induced refractory epileptic encephalopathy in school-aged children fires fires - fever-induced refractory epileptic encephalopathy in school-aged children idiopathic catastrophic epileptic encephalopathy severe refractory status epilepticus owing to presumed encephalitis Febrile infection-related epilepsy syndrome painful orbital and systemic neurofibroma, marfanoid habitus syndrome Painful orbital and systemic neurofibromas-marfanoid habitus syndrome acanthoma of nail matrix acanthoma of the nail matrix Onychocytic matricoma banf1-related neurodevelopmental syndrome nestor guillermo progeria syndrome ngps ngps - nestor guillermo progeria syndrome Nestor-guillermo progeria syndrome chondrodysplasia with joint dislocations gpapp type chondrodysplasia with joint dislocations, grapp type gpapp deficiency Chondrodysplasia with joint dislocations, gpapp type Hereditary sensorimotor neuropathy with hyperelastic skin mmn mmn - motor neuropathy with multiple conduction block mmncb motor neuropathy with multiple conduction block multifocal motor neuropathy with conduction block Multifocal motor neuropathy cardiomyopathy with cataract and hip spine disease syndrome krasnow-qazi syndrome Cardiomyopathy-cataract-hip spine disease syndrome dilated cardiomyopathy caused by anthracycline dilated cardiomyopathy caused by anthracycline toxicity Cardiomyopathy due to anthracyclines RRP Recurrent respiratory papillomatosis craniofacial ulnar renal syndrome craniofacial-ulnar-renal syndrome malpuech-michels-mingarelli-carnevale syndrome oculopalatoskeletal syndrome 3MC syndrome cnc lamb lamb (lentigines, atrial myxoma, blue nevi) syndrome lamb syndrome myxoma, spotty pigmentation, and endocrine overactivity myxoma, spotty pigmentation, endocrine overactivity syndrome myxoma-spotty pigmentation-endocrine overactivity syndrome name syndrome Carney complex carnitine palmitoyl transferase ia deficiency carnitine palmitoyltransferase deficiency type 1 carnitine palmitoyltransferase ia deficiency carnitine palmitoyltransferase type i deficiency cpt deficiency, hepatic, type i cpt deficiency, hepatic, type ia cpt i deficiency cpt1 - carnitine palmitoyltransferase i deficiency cpt1a deficiency cpt1a disorder of carnitine cycle and carnitine transport cpti - carnitine palmitoyltransferase deficiency type i disorder of carnitine cycle and carnitine transport caused by mutation in cpt1a hepatic carnitine palmitoyl transferase 1 deficiency hepatic carnitine palmitoyl transferase i deficiency hepatic cpt deficiency type i l-cpt1 deficiency l-cpti deficiency liver form of carnitine palmitoyltransferase deficiency Carnitine palmitoyl transferase 1a deficiency carnitine palmitoyltransferase deficiency type 2 cpt-ii cpt2 cpt2 - carnitine palmitoyltransferase ii deficiency cptii cptii - carnitine palmitoyltransferase deficiency type ii infantile carnitine palmitoyltransferase ii deficiency late-onset carnitine palmitoyltransferase ii deficiency lethal neonatal carnitine palmitoyltransferase ii deficiency muscle form of carnitine palmitoyltransferase deficiency Carnitine palmitoyltransferase ii deficiency carnitine acylcarnitine translocase deficiency Carnitine-acylcarnitine translocase deficiency maroteaux le-merrer bensahel syndrome maroteaux-le merrer-bensahel syndrome Carpotarsal osteochondromatosis idiopathic chronic eosinophilic pneumonitis Idiopathic chronic eosinophilic pneumonia intellectual developmental disorder, X-linked syndromic, Stocco dos Santos type X-linked intellectual disability, stocco dos santos type PPK-CA, Wallis type autosomal recessive palmoplantar hyperkeratosis and congenital alopecia cataract-alopecia-sclerodactyly syndrome palmoplantar keratoderma and congenital alopecia type 2 palmoplantar keratoderma and congenital alopecia, Wallis type Autosomal recessive palmoplantar keratoderma and congenital alopecia charcot-marie-tooth disease x-linked recessive type 5 charcot-marie-tooth disease, x-linked recessive, 5 charcot-marie-tooth disease, x-linked recessive, 5, x-linked recessive charcot-marie-tooth disease, x-linked recessive, type 5 charcot-marie-tooth neuropathy x type 5 charcot-marie-tooth neuropathy x-linked recessive 5 charcot-marie-tooth neuropathy, x-linked recessive, 5 cmt5x cmtx5 familial opticoacoustic nerve degeneration and polyneuropathy optic atrophy, neural deafness, and distal neurogenic amyotrophy optic atrophy, polyneuropathy, and deafness optic atrophy, sensorineural hearing loss and polyneuropathy prps1-related charcot-marie-tooth neuropathy x type 5 rosenberg chutorian syndrome rosenberg-chutorian syndrome x-linked charcot-marie-tooth disease type 5 Charcot-Marie-Tooth disease X-linked recessive 5 anterior polar cataract early-onset anterior subcapsular cataract polar cataract, anterior Early-onset anterior polar cataract cataract-ataxia-hearing loss syndrome Cataract-ataxia-deafness syndrome congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy syndrome mitochondrial dna depletion syndrome 10 Sengers syndrome cataract (disease) caused by mutation in crygd cataract 4 multiple types with or without microcornea cataract 4 with microcornea cataract 4, aculeiform cataract 4, central nuclear cataract 4, crystalline cataract 4, nonnuclear polymorphic congenital cataract 4, punctate crygd cataract (disease) ctrct4 Cataract 4 multiple types Congenital cataract-ichthyosis syndrome CTRCT8 cataract, congenital, Volkmann type Cataract 8 multiple types cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy cataracts, autosomal recessive ctrct46 early-onset non-syndromic cataract caused by mutation in lemd2 juvenilae cataract hutterite type lemd2 early-onset non-syndromic cataract Cataract 46 juvenile-onset cataract-microcornea syndrome ccmc congenital cataract-microcornea syndrome Cataract - microcornea syndrome congenital complete cataract total early-onset cataract Congenital total cataract alpha-n-acetylgalactosaminidase deficiency, type i naga (alpha-n-acetylgalactosaminidase) deficiency type 1 naga deficiency type 1 naga deficiency, type i schindler disease type 1 schindler disease, type iii Alpha-n-acetylgalactosaminidase deficiency type 1 cataract - glaucoma cataract glaucoma syndrome cataract-glaucoma Cataract-glaucoma syndrome caudal appendage deafness syndrome caudal appendage-hearing loss syndrome lynch-lee-murday syndrome Caudal appendage-deafness syndrome dipygus split notochord syndrome Caudal duplication acfs acfs - acrocardiofacial syndrome acro-cardio-facial syndrome ccge - cleft palate, cardiac defect, genital anomalies, ectrodactyly syndrome ccge syndrome cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome Acrocardiofacial syndrome Schinzel-Giedion syndrome pallister ulnar-mammary syndrome schinzel syndrome ulnar mammary syndrome ums Ulnar-mammary syndrome odontoma, ameloblastic, malignant Ameloblastic carcinoma capos (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome capos syndrome cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome cerebellar ataxia co-occurrent with ectodermal dysplasia Cerebellar ataxia-ectodermal dysplasia syndrome adrenoleukodystrophy, autosomal neonatal infantile phytanic acid storage disease pbd, zss pbd-zsd pbd-zss - peroxisome biogenesis disorder zellweger syndrome spectrum peroxisomal biogenesis disorders peroxisomal biogenesis disorders, zellweger syndrome spectrum peroxisome biogenesis disorder (nald/ird) peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile refsum disease) peroxisome biogenesis disorder spectrum peroxisome biogenesis disorder-zellweger spectrum disorder peroxisome biogenesis disorder-zellweger syndrome spectrum peroxisome biogenesis disorders, zellweger syndrome spectrum Peroxisome biogenesis disorder cutaneomeningospinal angiomatosis sams 1-31 spinal arteriovenous metameric syndrome Cobb syndrome craniomandibular dermatodysostosis familial mandibuloacral dysplasia mad mada mandibuloacral dysostosis mandibuloacral dysplasia with lipodystrophy Mandibuloacral dysplasia alveolar microlithiasis pam - pulmonary alveolar microlithiasis Pulmonary alveolar microlithiasis pellucid marginal corneal degeneration Pellucid marginal degeneration Cone dystrophy blaschkoid lichen planus blaschkoid lp lichen planus linearis linear lp Linear lichen planus NBIA Neurodegeneration with brain iron accumulation jals jals - juvenile amyotrophic lateral sclerosis juvenile charcot disease juvenile lou gehrig disease Juvenile amyotrophic lateral sclerosis cms congenital myasthenia syndrome congenital myasthenic syndromes myasthenic syndrome, congenital Congenital myasthenic syndrome abnormal specific antibody response decreased specific antibody in blood immunodeficiency due to selective anti-polysaccharide antibody deficiency specific anti-polysaccharide antibody deficiency Decreased circulating level of specific antibody CM-AVM Capillary malformation-arteriovenous malformation syndrome Cylindrical spirals myopathy acute myelodysplasia with myelofibrosis apmf Acute panmyelosis with myelofibrosis dirofilaria caused disease or disorder dirofilaria disease or disorder dirofilaria infectious disease dirofilariosis infection by dirofilaria infection caused by dirofilaria Dirofilariasis Engraftment syndrome arpeo arpeo- autosomal recessive progressive external ophthalmoplegia progressive external ophthalmoplegia, autosomal recessive Autosomal recessive progressive external ophthalmoplegia atypical progeroid syndrome Atypical werner syndrome deafness and male infertility deafness infertility syndrome dis hearing loss-infertility syndrome Deafness-infertility syndrome Cap disease Cap myopathy adnfle adnfle - autosomal dominant nocturnal frontal lobe epilepsy adshe - autosomal dominant sleep-related hypermotor epilepsy autosomal dominant sleep-related hyperkinetic epilepsy autosomal dominant sleep-related hypermotor epilepsy enfl Autosomal dominant nocturnal frontal lobe epilepsy bladder small cell neuroendocrine cancer poorly differentiated neuroendocrine carcinoma of the bladder sccb small cell bladder cancer small cell bladder carcinoma small cell carcinoma of the urinary bladder small cell carcinoma of urinary bladder small cell neuroendocrine carcinoma of bladder small cell/neuroendocrine carcinoma of urinary bladder urinary bladder small cell carcinoma Urinary bladder small cell neuroendocrine carcinoma centronuclear myopathy, x-linked myotubular myopathy, x-linked, x-linked recessive xlmtm Severe X-linked myotubular myopathy hereditary sensory autonomic neuropathy type ie hereditary sensory neuropathy type ie hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome hsan1e hsn ie hsn1e Hereditary sensory neuropathy-deafness-dementia syndrome cerebellar hypoplasia and tapetoretinal degeneration congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration Cerebellar hypoplasia-tapetoretinal degeneration syndrome congenital partial lipodystrophy familial lipodystrophy of limbs and/or trunk fpld genetic partial lipodystrophy koberling-dunnigan syndrome lipodystrophy, familial partial Familial partial lipodystrophy PTHSL Pitt-Hopkins-like syndrome Clostridial Myonecrosis Infection due to clostridium perfringens left renal vein (lrv) entrapment syndrome left renal vein entrapment syndrome mesoaortic compression of left renal vein ncs - nutcracker syndrome rns Renal nutcracker syndrome ADOA DOA optic atrophy, autosomal dominant Dominant hereditary optic atrophy aild ailt angioimmunoblastic lymphadenopathy angioimmunoblastic lymphadenopathy with dysproteinemia angioimmunoblastic lymphoma immunoblastic lymphadenopathy lymphogranulomatosis x peripheral t-cell lymphoma, aild (angioimmunoblastic lymphadenopathy with dysproteinemia) t-cell lymphoma, aild type Angioimmunoblastic t-cell lymphoma 3q subtelomere deletion syndrome 3q29 microdeletion syndrome 3q29 recurrent microdeletion syndrome 3qter deletion chromosome 3q29 microdeletion syndrome, isolated cases del(3)(q29) monosomy 3q29 monosomy 3qter Chromosome 3q29 microdeletion syndrome autoimmune encephalopathy Autoimmune encephalitis fam126a leukodystrophy hcc - hypomyelination and congenital cataract hld5 hypomyelinating leukodystrophy 5 hypomyelinating leukodystrophy type 5 hypomyelination-congenital cataract syndrome leukodystrophy caused by mutation in fam126a leukodystrophy, hypomyelinating, type 5 Hypomyelination and Congenital Cataract mpgn primary mpgn Primary membranoproliferative glomerulonephritis APDS senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation Activated pi3k-delta syndrome familial pheochromocytoma-paraganglioma hereditary paraganglioma-pheochromocytoma syndromes hereditary paragangliomas and pheochromocytomas Hereditary pheochromocytoma-paraganglioma 48,XYYY syndrome human pythiosis pythium insidiosum infection Pythiosis autosomal recessive congenital cerebellar ataxia caused by mutation in pmpca autosomal recessive spinocerebellar ataxia type 2 cerebelloparenchymal disorder iii cpd iii pmpca autosomal recessive congenital cerebellar ataxia scar2 scar2 (spinocerebellar ataxia autosomal recessive 2) Autosomal recessive spinocerebellar ataxia 2 acquired immunodeficiency of adults adult acquired immunodeficiency adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Acquired adult-onset immunodeficiency allergic alveolitis allergic form of pneumonitis alveolitis bagpipe lung eaa - extrinsic allergic alveolitis exogen allergic alveolitis extrinsic allergic bronchiolo-alveolitis hp Hypersensitivity pneumonitis Neorickettsia sennetsu caused disease or disorder Neorickettsia sennetsu disease or disorder Neorickettsia sennetsu infectious disease Sennetsu fever X-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome Hydrocephaly-cerebellar agenesis syndrome congenital narrowed trachea congenital stenosis of trachea Congenital tracheal stenosis atresia of bile duct atresia of bile ducts ba - biliary atresia biliary atresia, congenital biliary duct atresia isolated atresia of bile ducts non-syndromic biliary atresia Biliary atresia autosomal dominant intermediate charcot-marie-tooth disease type e charcot-marie-tooth disease dominant intermediate type e charcot-marie-tooth disease with nephropathy syndrome charcot-marie-tooth disease, dominant intermediate type e charcot-marie-tooth disease-nephropathy syndrome charcot-marie-tooth neuropathy with focal segmental glomerulonephritis cmtdie Charcot-Marie-Tooth disease dominant intermediate E foetal lipoma Lipoblastoma central nervous system melanoma (disease) cns melanoma melanoma (disease) of central nervous system melanoma of central nervous system melanoma of cns melanoma of the central nervous system melanoma of the cns Primary melanoma of the central nervous system malignant germ cell tumour of pineal gland malignant germ cell tumour of pineal parenchyma malignant germ cell tumour of the pineal gland malignant germ cell tumour of the pineal parenchyma malignant pineal area germ cell tumour malignant pineal gland germ cell tumour malignant pineal parenchymal germ cell tumour malignant pineal region germ cell tumour pineal germ cell tumor pineal germ cell tumour pineal region germ cell tumor pineal region germ cell tumour Malignant pineal area germ cell neoplasm differentiated thyroid gland cancer dtc - differentiated thyroid cancer papillary or follicular thyroid carcinoma well-differentiated thyroid carcinoma Differentiated thyroid carcinoma isolated levocardia levocardia with situs inversus levocardia-situs inversus Situs inversus with levocardia myopathies, nemaline nem nemaline body disease nemaline rod myopathy nm rod myopathy Nemaline myopathy fosmn (facial onset sensory and motor neuronopathy) syndrome fosmn syndrome Facial onset sensory and motor neuronopathy Melanoma associated retinopathy FGN Immunotactoid glomerulonephritis fibrillary glomerulonephritis Immunotactoid glomerulopathy amish infantile epilepsy syndrome disorder of lactosylceramide alpha-2,3-sialyltransferase activity epilepsy syndrome, infantile-onset symptomatic ganglioside gm3 synthase deficiency infantile-onset symptomatic epilepsy syndrome infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome lactosylceramide alpha-2,3-sialyltransferase activity disease salt & pepper syndrome salt and pepper syndrome salt-and-pepper syndrome spdrs st3gal5-cdg Gm3 synthase deficiency Cerebral gigantism-jaw cysts syndrome Visual snow syndrome expanded spectrum hemifacial microsomia expanded spectrum of hemifacial microsomia facio-auriculo-vertebral spectrum facio-auriculo-vertebral syndrome facioauriculovertebral dysplasia first and second branchial arch syndrome first arch syndrome first branchial arch syndrome goldenhar disease hemifacial microsomia hfm laterofacial microsomia oav (oculo-auriculo-vertebral) spectrum oav (oculoauriculovertebral) dysplasia oav dysplasia oav spectrum oavs oculo-auriculo-vertebral spectrum oculoauricular vertebral dysplasia oculoauriculovertebral dysplasia oculoauriculovertebral spectrum oculoauriculovertebral syndrome otomandibular dysostosis otomandibular syndrome unilateral or bilateral and asymmetric otomandibular dysplasia Craniofacial microsomia dup(7)(q11.23) trisomy 7q11.23 7q11.23 microduplication syndrome isolated microphthalmia-anophthalmia-coloboma mac spectrum microphthalmia-anophthalmia-coloboma spectrum nonsyndromic anophthalmia-microphthalmia syndrome Isolated anophthalmia-microphthalmia syndrome acid cholesteryl ester hydrolase deficiency, type 2 lal (lysosomal acid lipase) deficiency lal deficiency lald - lysosomal acid lipase deficiency Lysosomal acid lipase deficiency cesd - cholesterol ester storage disease cholesterol ester hydrolase deficiency, partial cholesterol ester storage disease lal deficiency, partial lipa deficiency, partial lysosomal acid lipase deficiency, partial Cholesteryl ester storage disease ffdd type iii ffdd3 focal facial dermal dysplasia 3 focal facial dermal dysplasia 3, setleis type setleis syndrome Focal facial dermal dysplasia type iii CFSMR1 cerebrofaciothoracic dysplasia pascual-Castroviejo syndrome type 1 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 non-syndromic intellectual disability, autosomal dominant Autosomal dominant non-syndromic intellectual disability Trichothiodystrophy MCPH microcephalia vera microcephaly vera microcephaly, primary autosomal recessive microcephaly, primary, autosomal recessive Autosomal recessive primary microcephaly complete phocomelia of upper limb humero-radio-ulnar intercalary transverse meromelia phocomelia Congenital absence of upper arm and forearm with hand present hemophagocytic lymphohistiocytosis with rheumatologic disease mas reactive hemophagocytic lymphohistiocytosis Macrophage activation syndrome PBL Plasmablastic lymphoma C1q nephropathy DYT5 dystonia HPD with diurnal fluctuation Segawa's disease hereditary progressive dystonia with diurnal fluctuation Dopa-responsive dystonia HOMG6 renal hypomagnesemia type 6 Renal hypomagnesemia 6 reducing-body myopathy Reducing body myopathy brain lung thyroid syndrome choreoathetosis and congenital hypothyroidism with pulmonary dysfunction choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome Brain-lung-thyroid syndrome Del(5)(q14.3) monosomy 5q14.3 5q14.3 microdeletion syndrome hereditary vascular retinopathy retinal vasculopathy and cerebral leukoencephalopathy rvcl rvcl - retinal vasculopathy cerebral leukoencephalopathy rvcl-s rvcl-s - retinal vasculopathy, cerebral leukoencephalopathy, systemic manifestations rvcls vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations costovertebral dysplasia spondylocostal dysplasia spondylothoracic dysplasia Spondylocostal dysostosis cathepsin d deficiency cathepsin d deficient neuronal ceroid lipofuscinosis ceroid lipofuscinosis, neuronal, type 10 cln10 cln10-ncl ctsd neuronal ceroid lipofuscinosis ctsd-related neuronal ceroid-lipofuscinosis neuronal ceroid lipofuscinosis cathepsin d-deficient neuronal ceroid lipofuscinosis caused by mutation in ctsd neuronal ceroid lipofuscinosis due to deficiency of cathepsin d neuronal ceroid lipofuscinosis type 10 Neuronal ceroid lipofuscinosis 10 benign familial recurrent cholestasis benign recurrent cholestasis bric bric - benign recurrent intrahepatic cholestasis cholestasis, benign recurrent intrahepatic summerskill-walshe-tygstrup syndrome Benign recurrent intrahepatic cholestasis ceroid lipofuscinosis neuronal 1 ceroid lipofuscinosis, neuronal, 1 ceroid lipofuscinosis, neuronal, 1, variable age at onset ceroid lipofuscinosis, neuronal, type 1 ceroid storage disease cln1 cln1 disease cln1 variable age at onset neuronal ceroid lipofuscinosis 1 variable age of onset neuronal ceroid lipofuscinosis caused by mutation in ppt1 neuronal ceroid lipofuscinosis type 1 ppt1 neuronal ceroid lipofuscinosis ppt1-related neuronal ceroid-lipofuscinosis Neuronal ceroid lipofuscinosis 1 cmyo10a congenital myopathy 10a, severe variant early-onset myopathy, areflexia, respiratory distress, dysphagia syndrome emardd (early-onset myopathy, areflexia, respiratory distress, dysphagia) syndrome megf10 myopathy MEGF10-related myopathy merten-singleton syndrome singleton merten syndrome singleton-merten dysplasia Singleton-Merten syndrome ceroid lipofuscinosis, neuronal, type 7 cln7 mfsd8 neuronal ceroid lipofuscinosis mfsd8-related neuronal ceroid-lipofuscinosis neuronal ceroid lipofuscinosis caused by mutation in mfsd8 neuronal ceroid lipofuscinosis type 7 Neuronal ceroid lipofuscinosis 7 15q24 microdeletion syndrome 15q24 recurrent microdeletion syndrome Del(15)(q24) monosomy 15q24 Chromosome 15q24 deletion syndrome autosomal dominant kufs disease autosomal dominant neuronal ceroid lipofuscinosis 4b ceroid lipofuscinosis, neuronal, 4 (kufs type), autosomal dominant ceroid lipofuscinosis, neuronal, 4, parry type cln4 cln4b disease neuronal ceroid lipofuscinosis 4 parry type neuronal ceroid lipofuscinosis 4b neuronal ceroid lipofuscinosis type 4b neuronal ceroid lipofuscinosis, parry type Ceroid lipofuscinosis, neuronal, 4 (kufs type) ceroid lipofuscinosis, neuronal, type 5 cln5 cln5 neuronal ceroid lipofuscinosis cln5-related neuronal ceroid-lipofuscinosis neuronal ceroid lipofuscinosis 5 variable age of onset neuronal ceroid lipofuscinosis caused by mutation in cln5 Neuronal ceroid lipofuscinosis 5 autosomal recessive spinocerebellar ataxia type 7 scar7 scar7 - autosomal recessive spinocerebellar ataxia type 7 spinocerebellar ataxia, autosomal recessive type 7 Autosomal recessive spinocerebellar ataxia 7 ARCA1 SCAR8 autosomal recessive cerebellar ataxia type 1 spinocerebellar ataxia, autosomal recessive type 8 Autosomal recessive ataxia, beauce type ceroid lipofuscinosis, neuronal, type 6 cln6 cln6 late infantile neuronal ceroid lipofuscinosis cln6-related neuronal ceroid-lipofuscinosis cln6a late infantile neuronal ceroid lipofuscinosis caused by mutation in cln6 neuronal ceroid lipofuscinosis 6 neuronal ceroid lipofuscinosis 6 variable age of onset neuronal ceroid lipofuscinosis type 6 neuronal ceroid lipofuscinosis, late infantile, variant vlincl Ceroid lipofuscinosis, neuronal, 6a endogenous hypertriglyceridemia familial chylomicronemia familial hyperlipo-proteinemia type 1 familial hyperlipoproteinemia type i familial hyperlipoproteinemia, type i familial lipoprotein lipase deficiency familial lipoprotein lipase deficiency (disorder) [ambiguous] familial lipoprotein lipase deficiency with type i phenotype familial lpl deficiency familial type i hyperlipoproteinemia fredrickson type 1 hyperlipoproteinemia fredrickson type i hyperlipoproteinemia fredrickson type i lipaemia hepatosplenomegalic lipoidosis high density lipoprotein cholesterol level qtl 11 hypercholesterinaemic xanthomatosis hypercholesterinemic xanthomatosis hyperchylomicro-nemia familial hyperchylomicronemia hyperlipemia essential familial hyperlipemia idiopathic burger-grutz type hyperlipoproteinemia type 1 hyperlipoproteinemia, type ia lpl deficiency mixed hyperglyceridemia primary hyperchylomicronemia Hyperlipoproteinemia, type I norse norse - new-onset refractory status epilepticus New-onset refractory status epilepticus ectol1 ectopia lentis syndrome familial ectopia lentis iel isolated lens position anomaly nonsyndromic lens position anomaly Isolated ectopia lentis histiocyte-rich large b-cell lymphoma t-cell histiocyte rich large b-cell lymphoma t-cell hystiocyte rich large b-cell lymphoma t-cell rich large b-cell lymphoma t-cell/histiocyte rich large b-cell lymphoma T-cell/histiocyte rich large B cell lymphoma Cervical hypertrichosis-peripheral neuropathy syndrome channelopathy-associated cip congenital insensitivity to pain-anosmia-neuropathic arthropathy insensitivity to pain, congenital scn9a-related congenital insensitivity to pain Channelopathy-associated congenital insensitivity to pain, autosomal recessive central congenital hypothyroidism central hypothyroidism hypothalamic-pituitary hypothyroidism secondary hypothyroidism thyroid stimulating hormone deficiency thyrotropin deficiency tsh deficiency Congenital central hypothyroidism caid (chronic atrial and intestinal dysrhythmia) syndrome caid syndrome chronic atrial dysrhythmia-intestinal motility disorder Chronic atrial and intestinal dysrhythmia fewer or absent grooves in brain lissencephaly (disease) lissencephaly pachygyria Lissencephaly spectrum disorders difficulty seeing moving objects perrs prolonged electroretinal response suppression Bradyopsia pelizaeus-merzbacher-like disease pmld pmld - pelizaeus merzbacher like disease Pelizaeus Merzbacher like disease myotonia congenita Thomsen and Becker disease celiac artery compression syndrome dunbar syndrome mals median arcuate ligament syndrome Celiac trunk compression syndrome cld - congenital lactase deficiency congenital alactasia congenital alactasia syndrome congenital lactose intolerance congenital lactose malabsorption disaccharide intolerance ii Congenital lactase deficiency intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome Image syndrome autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome immunodeficiency 31c, autosomal dominant immunodeficiency 31c, chronic mucocutaneous candidiasis, autosomal dominant immunodeficiency type 31c Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome alacrimia-choreoathetosis-liver dysfunction syndrome cdg1v congenital disorder of glycosylation type iv ngly1 deficiency ngly1-cddg ngly1-deficiency ngly1-related congenital disorder of deglycosylation Congenital disorder of deglycosylation 1 alps due to ctla4 haploinsufficiency alps due to ctla4 haploinsuffiency alps type 5 alps type v autoimmune lymphoproliferative syndrome 5 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency autoimmune lymphoproliferative syndrome due to cytotoxic t-lymphocyte associated protein 4 haploinsufficiency autoimmune lymphoproliferative syndrome type 5 autoimmune lymphoproliferative syndrome type v ctla-4 haploinsufficiency with autoimmune infiltration disease immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in ngf congenital insensitivity to pain and thermal analgesia hereditary sensory and autonomic neuropathy type 5 hereditary sensory and autonomic neuropathy, type v hsan type v hsan5 ngf autosomal recessive hereditary sensory and autonomic neuropathy Congenital sensory neuropathy with selective loss of small myelinated fibers baughman syndrome chand syndrome chands chands - curly hair, ankyloblepharon, nail dysplasia syndrome Curly hair, ankyloblepharon, nail dysplasia syndrome intestinal lymphangiectasia (disease) intestinal lymphangiectasis Intestinal lymphangiectasia body of uterus carcinosarcoma carcinosarcoma of uterus corpus uteri malignant mixed mesodermal tumour malignant mixed mesodermal neoplasm of the uterus malignant mixed mesodermal neoplasm of uterus malignant mixed mesodermal tumor of the uterus malignant mixed mesodermal tumor of uterus malignant mixed mesodermal tumour of the uterine body malignant mixed mesodermal tumour of the uterine corpus malignant mixed mesodermal tumour of the uterus malignant mixed mesodermal tumour of uterine body malignant mixed mesodermal tumour of uterine corpus malignant mixed mesodermal tumour of uterus malignant mixed mullerian tumor of the corpus uteri malignant mixed mullerian tumour of the corpus uteri malignant mixed müllerian neoplasm of corpus uteri malignant mixed müllerian tumor of the corpus uteri malignant mixed müllerian tumour of the corpus uteri mixed mullerian cancer of corpus uteri mixed mullerian sarcoma of the uterus mixed mullerian sarcoma of uterus mixed müllerian cancer of corpus uteri mixed müllerian sarcoma of the uterus mixed müllerian sarcoma of uterus uterine body malignant mixed mesodermal tumour uterine corpus malignant mixed mesodermal (mullerian) tumour uterine corpus malignant mixed mesodermal (müllerian) tumour uterine corpus malignant mixed mesodermal tumour uterine corpus malignant mixed mullerian tumour uterine corpus malignant mixed müllerian tumour uterine malignant mixed mesodermal neoplasm uterine malignant mixed mesodermal tumor uterine malignant mixed mesodermal tumour uterine mixed mullerian sarcoma uterine mixed müllerian sarcoma Carcinosarcoma of the corpus uteri inherited deficiency of transcobalamin tc ii deficiency tcn2 - transcobalamin ii deficiency tcn2d transcolabamin ii deficiency Transcobalamin ii deficiency chang davidson carlson syndrome chang-davidson-carlson syndrome hypogonadotropic hypogonadism retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome dihydropyrimidinase deficiency dihydrouracil amidohydrolase deficiency Dihydropyrimidinuria carbohydrate deficient glycoprotein syndrome type iii cdg syndrome type iii cdg-iii cdg2i cdg2i - carbohydrate deficient glycoprotein syndrome type iii cog5 (component of oligomeric golgi complex 5) congenital disorder of glycosylation cog5 congenital disorder of glycosylation cog5-cdg component of oligomeric golgi complex 5 congenital disorder of glycosylation congenital disorder of glycosylation type 2i congenital disorder of glycosylation type iii COG5-congenital disorder of glycosylation chaotic atrial tachycardia ectopic atrial tachycardia mat multifocal atrial tachycardia (disease) Multifocal atrial tachycardia aran-nm arcmt2-nm autosomal recessive charcot-marie-tooth disease type 2 with neuromyotonia autosomal recessive neuromyotonia and axonal neuropathy autosomal recessive neuromyotonia with axonal neuropathy gamstorp-wohlfart syndrome myokymia, myotonia and muscle wasting Autosomal recessive axonal neuropathy with neuromyotonia dRTA with anaemia dRTA with anemia distal renal tubular acidosis 4 with hemolytic anaemia distal renal tubular acidosis 4 with hemolytic anemia distal renal tubular acidosis with anaemia distal renal tubular acidosis with anemia Renal tubular acidosis, distal, 4, with hemolytic anemia Rienhoff syndrome SAVI STING-associated vasculopathy with onset in infancy anemia, hypochromic microcytic, with iron overload type 1 Microcytic anemia with liver iron overload Eosinophil peroxidase deficiency fh-iii fh3 Familial hyperaldosteronism type iii SCA19/22 spinocerebellar ataxia type 19 Spinocerebellar ataxia type 19/22 sca35 spinocerebellar ataxia type35 Spinocerebellar ataxia type 35 asidan asidan ataxia costa de morte ataxia sca36 spinocerebellar ataxia type36 Spinocerebellar ataxia type 36 sca37 spinocerebellar ataxia with altered vertical eye movement spinocerebellar ataxia with altered vertical eye movements Spinocerebellar ataxia type 37 SCA38 Spinocerebellar ataxia type 38 Char syndrome SCA40 Spinocerebellar ataxia type 40 adca-dn syndrome autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome Autosomal dominant cerebellar ataxia, deafness and narcolepsy immunodeficiency type 13 Idiopathic cd4 lymphocytopenia siddt sudden infant death with dysgenesis of testes syndrome Sudden infant death-dysgenesis of the testes syndrome ada2 deficiency adenosine deaminase 2 deficiency childhood-onset polyarteritis nodosa dada2 polyarteritis nodosa, childhood-onset polyarteritis nodosa, childhoood-onset vaihs vasculitis due to dada2 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome Vasculitis due to ada2 deficiency guttate hypopigmentation and punctate palmoplantar keratoderma hypopigmentation and punctate keratosis of the palms and soles Hypopigmentation-punctate palmoplantar keratoderma syndrome infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid macrocephalic sperm head syndrome male infertility due to large-headed multiflagellar polyploid spermatozoa male infertility due to macrozoospermia male infertility with large-headed, multiflagellar, polyploid spermatozoa spermatogenic failure 5 spermatogenic failure type 5 Infertility associated with multi-tailed spermatozoa and excessive DNA proximal 16p11.2 microduplication syndrome proximal dup(16)(p11.2) proximal trisomy 16p11.2 Chromosome 16p11.2 duplication syndrome chronic urticaria with gammopathy chronic urticaria with macroglobulinemia Schnitzler syndrome dee26 early infantile epileptic encephalopathy caused by mutation in kcnb1 eiee26 epileptic encephalopathy, early infantile, 26 epileptic encephalopathy, early infantile, type 26 kcnb1 early infantile epileptic encephalopathy Developmental and epileptic encephalopathy, 26 carbohydrate deficient glycoprotein syndrome type 1m carbohydrate deficient glycoprotein syndrome type im cdg syndrome type im cdg-im cdg1m cdg1m - carbohydrate deficient glycoprotein syndrome type 1m congenital disorder of glycosylation type 1m congenital disorder of glycosylation type im dk1-cdg dolichol kinase deficiency dolk-congenital disorder of glycosylation hypotonia and ichthyosis due to dolichol phosphate deficiency DK1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type in cdg syndrome type in cdg-in cdg1n congenital disorder of glycosylation type 1n congenital disorder of glycosylation type in man5glcnac2-dolichylpyrophosphate flippase deficiency man5glcnac2-pp-dol flippase deficiency rft1-cdg rft1-cdg (congenital disorder of glycosylation) RFT1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type 1o carbohydrate deficient glycoprotein syndrome type io cdg syndrome type io cdg-io cdg1o congenital disorder of glycosylation type 1o congenital disorder of glycosylation type io dpm3-cdg dpm3-cdg - dolichyl-phosphate mannosyltransferase 3 congenital disorder of glycosylation mddgc15 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 15 DPM3-congenital disorder of glycosylation alg11-cdg alg11-cdg - asparagine-linked glycosylation 11 congenital disorder of glycosylation asparagine-linked glycosylation 11 congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type ip cdg syndrome type ip cdg-ip cdg1p congenital disorder of glycosylation type 1p congenital disorder of glycosylation type ip ALG11-congenital disorder of glycosylation cdg syndrome type iq cdg-iq cdg1q congenital disorder of glycosylation type 1q congenital disorder of glycosylation type iq ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities srd5a3-cdg srd5a3-cdg - steroid 5 alpha-reductase 3 congenital disorder of glycosylation SRD5A3-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type ir cdg syndrome type ir cdg-ir cdg1r congenital disorder of glycosylation type 1r congenital disorder of glycosylation type ir ddost-cdg ddost-cdg - dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation dolichyl-diphosphooligosaccharide-protein glycosyltransferase congenital disorder of glycosylation DDOST-congenital disorder of glycosylation axonal motor sensory neuropathy with deafness and intellectual disability charcot-marie-tooth disease with deafness and intellectual disability charcot-marie-tooth disease x-linked recessive type 4 charcot-marie-tooth disease, x-linked recessive, 4 charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxia charcot-marie-tooth neuropathy x type 4 cmt4x cmtx 4 cmtx4 cowchock syndrome cowchock syndrome, x-linked recessive cowck nadmr namsd x-linked charcot-marie-tooth disease type 4 Charcot-Marie-Tooth disease X-linked recessive 4 alg13-cdg alg13-cdg (congenital disorder of glycosylation) cdg syndrome type is cdg-is cdg1s congenital disorder of glycosylation type 1s congenital disorder of glycosylation type is dee36 eiee36 epileptic encephalopathy, early infantile, 36 Developmental and epileptic encephalopathy, 36 cdg syndrome type iim cdg-iim cdg2m cdg2m - congenital disorder of glycosylation type 2m congenital disorder of glycosylation type 2m congenital disorder of glycosylation type iim congenital disorder of glycosylation, type iim, somatic mosaic congenital disorder of glycosylation, type iim, somatic mosaicism, x-linked dominant developmental and epileptic encephalopathy 22 slc35a2-cdg slc35a2-cdg - solute carrier family 35 member a2 congenital disorder of glycosylation solute carrier family 35 member a2 congenital disorder of glycosylation SLC35A2-congenital disorder of glycosylation intellectual disability, alacrima, achalasia syndrome Alacrima, achalasia, and intellectual disability syndrome carbohydrate deficient glycoprotein syndrome type iy cdg syndrome type iy cdg-iy cdg1y congenital disorder of glycosylation type 1y congenital disorder of glycosylation type iy congenital disorder of glycosylation, type iy, x-linked recessive signal sequence receptor subunit 4 congenital disorder of glycosylation ssr4-cdg ssr4-cdg - signal sequence receptor subunit 4 congenital disorder of glycosylation SSR4-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type iif cdg syndrome type iif cdg-iif cdg2f cmp-sialic acid transporter deficiency congenital disorder of glycosylation type 2f congenital disorder of glycosylation type iif slc35a1 (solute carrier family 35 member a1) congenital disorder of glycosylation slc35a1 congenital disorder of glycosylation slc35a1-cdg solute carrier family 35 member a1 congenital disorder of glycosylation SLC35A1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type iih cdg syndrome type iih cdg-iih cdg2h cog8 (component of oligomeric golgi complex 8) congenital disorder of glycosylation cog8 congenital disorder of glycosylation cog8-cdg component of oligomeric golgi complex 8 congenital disorder of glycosylation congenital disorder of glycosylation type 2h congenital disorder of glycosylation type iih COG8-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type 2j carbohydrate deficient glycoprotein syndrome type iij cdg syndrome type iij cdg-iij cdg2j cdg2j - carbohydrate deficient glycoprotein syndrome type 2j cog4 (component of oligomeric golgi complex 4) congenital disorder of glycosylation cog4 congenital disorder of glycosylation cog4-cdg component of oligomeric golgi complex 4 congenital disorder of glycosylation congenital disorder of glycosylation type 2j congenital disorder of glycosylation type iij COG4-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type 2k carbohydrate deficient glycoprotein syndrome type iik cdg syndrome type iik cdg-iik cdg2k congenital disorder of glycosylation type 2k congenital disorder of glycosylation type iik tmem165-cdg tmem165-cdg - transmembrane protein 165 congenital disorder of glycosylation transmembrane protein 165 congenital disorder of glycosylation TMEM165-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type 1u carbohydrate deficient glycoprotein syndrome type iu cdg syndrome type iu cdg-iu cdg1u cmd with intellectual disability and severe epilepsy congenital disorder of glycosylation type 1u congenital disorder of glycosylation type iu dpm2-cdg dpm2-cdg (cdg-iu) Congenital muscular dystrophy with intellectual disability and severe epilepsy carbohydrate deficient glycoprotein syndrome type 2 due to deficiency of mannosidase alpha class 1b member 1 carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency congenital disorder of glycosylation type 2 due to man1b1 deficiency congenital disorder of glycosylation type ii due to man1b1 deficiency intellectual disability-truncal obesity syndrome man1b1-cdg man1b1-cdg - mannosidase alpha class 1b member 1 deficiency congenital disorder of glycosylation MAN1B1-congenital disorder of glycosylation BLC-PMG Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome band-like calcification with simplified gyration and polymicrogyria bilateral band-like calcification with polymicrogyria microcephaly-intracranial calcification-intellectual disability syndrome Pseudo-torch syndrome CCV Cutaneous collagenous vasculopathy aars charcot-marie-tooth disease type 2 autosomal dominant axonal charcot-marie-tooth disease type 2n autosomal dominant charcot-marie-tooth disease type 2n charcot-marie-tooth disease type 2 caused by mutation in aars charcot-marie-tooth neuropathy axonal type 2n charcot-marie-tooth neuropathy type 2n cmt2n Charcot-Marie-Tooth disease axonal type 2N charcot marie tooth disease x-linked recessive 2 charcot-marie-tooth disease x-linked recessive type 2 charcot-marie-tooth disease, x-linked recessive, 2 charcot-marie-tooth neuropathy x type 2 charcot-marie-tooth neuropathy x-linked recessive 2 charcot-marie-tooth neuropathy, x-linked recessive, 2 charcot-marie-tooth neuropathy, x-linked recessive, 2, x-linked recessive cmtx 2 cmtx2 x-linked charcot-marie-tooth disease type 2 Charcot-Marie-Tooth disease X-linked recessive 2 autosomal dominant axonal charcot-marie-tooth disease charcot marie tooth disease, type 2 charcot-marie-tooth disease, type ii charcot-marie-tooth, type 2 cmt2 hereditary motor and sensory neuropathy guadalajara neuronal type hereditary motor and sensory neuropathy okinawa type hereditary motor and sensory neuropathy type 2 hereditary motor and sensory neuropathy type ii inherited neuronal peroneal muscular atrophy peroneal muscular atrophy of neuronal type Charcot-Marie-Tooth disease type 2 autosomal dominant axonal charcot-marie-tooth disease type 2l autosomal dominant charcot-marie-tooth disease type 2l charcot-marie-tooth disease type 2 caused by mutation in hspb8 charcot-marie-tooth neuropathy axonal type 2l charcot-marie-tooth neuropathy type 2l cmt2l hspb8 charcot-marie-tooth disease type 2 Charcot-Marie-Tooth disease axonal type 2L autosomal dominant demyelinating charcot-marie-tooth disease charcot marie tooth disease, type 1 charcot-marie-tooth disease of demyelinating type charcot-marie-tooth disease type 1 charcot-marie-tooth neuropathy type 1 charcot-marie-tooth, type 1 cmt1 hereditary motor and sensory neuropathy type 1 hereditary motor and sensory neuropathy type i hereditary sensory-motor neuropathy, type i hsmn, type i inherited dominant hypertrophic neuropathy peroneal muscular atrophy of demyelinating type Charcot-Marie-Tooth disease, type I autosomal dominant axonal charcot-marie-tooth disease type 2o autosomal dominant charcot-marie-tooth disease type 2o charcot-marie-tooth disease caused by mutation in dync1h1 charcot-marie-tooth disease, axonal, type 20 charcot-marie-tooth neuropathy axonal type 2o charcot-marie-tooth neuropathy type 2o cmt2o dync1h1 charcot-marie-tooth disease Charcot-Marie-Tooth disease axonal type 2O charcot-marie-tooth disease caused by mutation in lrsam1 charcot-marie-tooth disease type 2p charcot-marie-tooth disease, axonal, type 2p charcot-marie-tooth neuropathy type 2g charcot-marie-tooth neuropathy type 2p charcot-marie-tooth neuropathy, type 2p charcot-marie-toothe disease, axonal, type 2p cmt2p cmt2p - charcot-marie-tooth disease type 2p lrsam1 charcot-marie-tooth disease Charcot-Marie-Tooth disease axonal type 2P CMTDI intermediate Charcot-Marie-Tooth disease, autosomal dominant Autosomal dominant intermediate charcot-marie-tooth disease autosomal dominant intermediate charcot-marie-tooth disease type a charcot-marie-tooth disease dominant intermediate a charcot-marie-tooth disease dominant intermediate ii charcot-marie-tooth disease dominant intermediate type a charcot-marie-tooth neuropathy dominant intermediate a charcot-marie-tooth neuropathy, axonal, type 2gg charcot-marie-tooth neuropathy, type 2gg cmt2gg cmtdia Charcot-marie-tooth disease, axonal, type 2gg charcot-marie-tooth disease caused by mutation in dnm2 charcot-marie-tooth disease dominant intermediate 1 charcot-marie-tooth disease dominant intermediate i charcot-marie-tooth disease dominant intermediate type b charcot-marie-tooth disease, axonal type 2m charcot-marie-tooth disease, dominant intermediate type b charcot-marie-tooth neuropathy dominant intermediate b cmt di1 cmtdib dnm2 charcot-marie-tooth disease Charcot-Marie-Tooth disease dominant intermediate B autosomal dominant intermediate charcot-marie-tooth disease type c charcot-marie-tooth disease caused by mutation in yars charcot-marie-tooth disease dominant intermediate type c charcot-marie-tooth disease, dominant intermediate type c charcot-marie-tooth neuropathy dominant intermediate c cmtdic yars charcot-marie-tooth disease Charcot-Marie-Tooth disease dominant intermediate C charcot marie tooth disease x-linked recessive 3 charcot-marie-tooth disease x-linked recessive type 3 charcot-marie-tooth disease, x-linked recessive, 3 charcot-marie-tooth neuropathy x type 3 charcot-marie-tooth neuropathy x-linked recessive 3 charcot-marie-tooth neuropathy, x-linked recessive, 3 charcot-marie-tooth neuropathy, x-linked recessive, 3, x-linked recessive cmt3x cmtx 3 cmtx3 x-linked charcot-marie-tooth disease type 3 Charcot-Marie-Tooth disease X-linked recessive 3 ar-cmt1 autosomal recessive demyelinating charcot-marie-tooth charcot-marie-tooth disease, type iv charcot-marie-tooth, type 4 cmt4 Charcot-Marie-Tooth disease type 4 charcot-marie-tooth disease type 4 caused by mutation in prx charcot-marie-tooth disease, type 4f charcot-marie-tooth neuropathy type 4f cmt4f prx charcot-marie-tooth disease type 4 Charcot-Marie-Tooth disease type 4F autosomal recessive charcot-marie-tooth disease type 4h autosomal recessive demyelinating charcot-marie-tooth disease type 4h charcot-marie-tooth disease type 4 caused by mutation in fgd4 charcot-marie-tooth disease, demyelinating, type 4h charcot-marie-tooth neuropathy type 4h cmt4h fgd4 charcot-marie-tooth disease type 4 Charcot-Marie-Tooth disease type 4H autosomal recessive charcot-marie-tooth disease type 4j charcot-marie-tooth disease type 4 caused by mutation in fig4 charcot-marie-tooth disease, demyelinating, type 4j charcot-marie-tooth neuropathy type 4j cmt4j fig4 charcot-marie-tooth disease type 4 Charcot-Marie-Tooth disease type 4J CMTX COWCK X-linked hereditary motor and sensory neuropathy Charcot-Marie-Tooth disease type X CMTX6 Charcot-Marie-Tooth disease X-linked dominant type 6 Charcot-Marie-Tooth disease, X-linked dominant, 6, X-linked dominant Charcot-Marie-Tooth disease, X-linked dominant, type 6 Charcot-Marie-Tooth neuropathy X-linked dominant 6 X-linked Charcot-Marie-Tooth disease type 6 Charcot-Marie-Tooth disease X-linked dominant 6 CMT2Q Charcot-Marie-Tooth disease caused by mutation in DHTKD1 Charcot-Marie-Tooth neuropathy type 2Q DHTKD1 Charcot-Marie-Tooth disease autosomal dominant Charcot-Marie-Tooth disease type 2Q autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q Charcot-Marie-Tooth disease axonal type 2Q CMT2 with giant axons DCAF8 giant axonal neuropathy HMSN2 with giant axons autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons giant axonal neuropathy caused by mutation in DCAF8 giant axonal neuropathy type 2 Giant axonal neuropathy 2 ARCMT2K Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K Charcot-Marie-Tooth neuropathy axonal type 2K autosomal recessive Charcot-Marie-Tooth disease with hoarseness autosomal recessive axonal CMT4C4 autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth disease axonal type 2K autosomal dominant charcot-marie-tooth disease with focally folded myelin sheaths type 1a charcot-marie-tooth disease, type 1a charcot-marie-tooth disease, type ia charcot-marie-tooth neuropathy type 1a charcot-marie-tooth syndrome type 1a cmt1a hereditary motor and sensory neuropathy 1a hereditary motor and sensory neuropathy ia hmsn1a microduplication 17p12 Charcot-Marie-Tooth disease type 1A CMT2R Charcot-Marie-Tooth disease type 2 caused by mutation in TRIM2 Charcot-Marie-Tooth disease, type 2R Charcot-Marie-Tooth neuropathy type 2R TRIM2 Charcot-Marie-Tooth disease type 2 autosomal recessive axonal Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease type 2R RI-CMT intermediate Charcot-Marie-Tooth disease, autosomal recessive Autosomal recessive intermediate charcot-marie-tooth disease autosomal recessive intermediate charcot-marie-tooth disease type a charcot-marie-tooth disease caused by mutation in gdap1 charcot-marie-tooth disease recessive intermediate type a charcot-marie-tooth disease, recessive intermediate type a charcot-marie-tooth neuropathy recessive intermediate a cmtria gdap1 charcot-marie-tooth disease ri-cmt type a Charcot-Marie-Tooth disease recessive intermediate A autosomal recessive intermediate charcot-marie-tooth disease type b charcot-marie-tooth disease caused by mutation in kars charcot-marie-tooth disease recessive intermediate type b charcot-marie-tooth disease, recessive intermediate type b charcot-marie-tooth neuropathy recessive intermediate b cmtrib kars charcot-marie-tooth disease kars-related intermediate charcot-marie-tooth neuropathy ri-cmt type b ri-cmtb Charcot-Marie-Tooth disease recessive intermediate B double heterozygous for hb s + hb d punjab hbs-hbd disease hbsd disease hemoglobin s-d disease hemoglobin s/d punjab disease hemoglobin sd sickle cell anemia with hemoglobin d disease sickle cell hemoglobin d sickle cell-hemoglobin d disease syndrome Sickle cell-hemoglobin D disease autosomal dominant charcot-marie-tooth disease with focally folded myelin sheaths type 1b charcot-marie-tooth disease slow nerve conduction type linked to duffy charcot-marie-tooth disease type 1 caused by mutation in mpz charcot-marie-tooth disease, type 1b charcot-marie-tooth disease, type ib charcot-marie-tooth neuropathy type 1b cmt1b hereditary motor and sensory neuropathy i hereditary motor and sensory neuropathy ib hmsn ib hmsn1b mpz charcot-marie-tooth disease type 1 Charcot-Marie-Tooth disease type 1B glutaric aciduria (disease) caused by mutation in sugct glutaric aciduria type 3 glutaryl-coenzyme a oxidase deficiency sugct glutaric aciduria (disease) sugct-gene related glutaryl-coenzyme a oxidase deficiency Glutaric acidemia type 3 charcot-marie-tooth disease type 1 caused by mutation in litaf charcot-marie-tooth disease, type 1c charcot-marie-tooth disease, type ic charcot-marie-tooth neuropathy type 1c cmt slow nerve conduction type c cmt1c hmsn ic hmsn1c litaf charcot-marie-tooth disease type 1 neuropathy hereditary motor and sensory type 1c neuropathy, hereditary motor and sensory, type ic Charcot-Marie-Tooth disease type 1C deficiency of sterol carrier protein x leukoencephalopathy-dystonia-motor neuropathy syndrome scp2 deficiency scpx (sterol carrier protein x) deficiency sterol carrier protein x deficiency sterol carrier protein-2 deficiency Sterol carrier protein 2 deficiency contiguous abcd1 dxs1357e deletion syndrome contiguous abcd1/dxs1375e deletion syndrome zellweger-like contiguous gene deletion syndrome CADDS eds viii ehlers-danlos syndrome type 8 ehlers-danlos syndrome type viii periodontitis associated with ehlers-danlos syndrome type viii Ehlers-Danlos syndrome, periodontitis type Peroxisomal single enzyme/protein defect adp platelet receptor p2y12 defect bleeding disorder due to adp platelet receptor p2y12 defect bleeding disorder due to p2y12 defect p2y12 defect Platelet-type bleeding disorder 8 autosomal dominant charcot-marie-tooth disease axonal type 2a1 charcot-marie-tooth disease neuronal type 2a1 charcot-marie-tooth disease type 2 caused by mutation in kif1b charcot-marie-tooth disease type 2a charcot-marie-tooth disease, type 2a1 charcot-marie-tooth neuropathy type 2a1 cmt2a cmt2a1 hmsn2a1 kif1b charcot-marie-tooth disease type 2 Charcot-Marie-Tooth disease type 2A1 Isochromosome 21 tetrasomy type 21 Tetrasomy 21 cor triatriatum dexter (disease) cor triatriatum dextrum divided right atrium Cor triatriatum dexter divided left atrium Cor triatriatum sinister agenesis of the corpus callosum with mental retardation, ocular coloboma, and micrognathia corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia, x-linked recessive corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia corpus callosum, agenesis of, with intellectual disability, ocular coloboma and micrognathia graham-cox syndrome intellectual disability, x-linked, syndromic 28 mrxs28 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome da silva syndrome intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome lissencephaly, x-linked, type 2 x-linked lissencephaly with abnormal genitalia syndrome x-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome x-linked lissencephaly with ambiguous genitalia x-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome xlag (x-linked lissencephaly with abnormal genitalia) syndrome X-linked lissencephaly with abnormal genitalia Del(20)(p12.3) monosomy 20p12.3 20p12.3 microdeletion syndrome aexs familial gynecomastia, due to increased aromatase activity familial hyperestrogenism gynecomastia, familial, due to increased aromatase activity gynecomastia, hereditary hereditary prepubertal gynecomastia increased aromatase activity Aromatase excess syndrome acrokeratoelastoidosis of costa ake keratoderma, palmoplantar, punctate type 3 ppkp3 punctate palmoplantar hyperkeratosis type 3 punctate palmoplantar keratoderma type 3 punctate palmoplantar keratoderma type iii Acrokerato-elastoidosis CMT2C Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4 Charcot-Marie-Tooth neuropathy type 2C HMSN2C TRPV4 Charcot-Marie-Tooth disease type 2 autosomal cominant axonal Charcot-Marie-Tooth disease type 2C autosomal dominant Charcot-Marie-Tooth disease type 2C hereditary motor and sensory neuropathy type IIc Charcot-Marie-Tooth disease axonal type 2C FOXP1 syndrome foxp1 haploinsufficiency foxp1 syndrome foxp1-related neurodevelopmental disorder iddla intellectual developmental disorder with language impairment and with or without autistic features mental retardation with language impairment and autistic features Intellectual disability-severe speech delay-mild dysmorphism syndrome male infertility due to round-headed spermatozoa round-headed sperm syndrome Male infertility due to globozoospermia combined prosaposin deficiency encephalopathy due to prosaposin deficiency Combined PSAP deficiency CMT2D Charcot-Marie-Tooth disease neuronal type 2D Charcot-Marie-Tooth disease type 2 caused by mutation in GARS Charcot-Marie-Tooth disease, type 2D Charcot-Marie-Tooth neuropathy type 2D GARS Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2D ganglioside accumulation in nervous tissue lysosomes ganglioside storage disease Gangliosidosis CMT4A Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1 Charcot-Marie-Tooth neuropathy type 4A GDAP1 Charcot-Marie-Tooth disease type 4 autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth disease type 4A igg4-rd igg4-related systemic disease Immunoglobulin G4-related sclerosing disease corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome crash syndrome hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome hypoplasia of corpus callosum, intellectual disability, adducted thumbs, spasticity, hydrocephalus syndrome l1cam syndrome L1 syndrome autosomal dominant limb-girdle muscular dystrophy caused by mutation in dnajb6 dnajb6 autosomal dominant limb-girdle muscular dystrophy dnajb6-related lgmd d1 dnajb6-related limb-girdle muscular dystrophy d1 lgmd type 1d lgmd1d lgmd1d (dnajb6) lgmdd1 muscular dystrophy, autosomal dominant, with rimmed vacuoles muscular dystrophy, limb-girdle, autosomal dominant 1 Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b1 charcot-marie-tooth disease type 4 caused by mutation in mtmr2 charcot-marie-tooth disease, demyelinating, type 4b1 charcot-marie-tooth neuropathy type 4b1 charcot-marie-tooth neuropathy type 4b1 (cmt4b1) cmt4b1 mtmr2 charcot-marie-tooth disease type 4 Charcot-Marie-Tooth disease type 4B1 autosomal dominant limb girdle muscular dystrophy type 1f lgmd type 1f lgmd1f lgmdd2 limb-girdle muscular dystrophy, type 1f muscular dystrophy limb-girdle type 1f muscular dystrophy, limb-girdle, autosomal dominant 2 tnp03-related limb-girdle muscular dystrophy d2 Autosomal dominant limb-girdle muscular dystrophy type 1f autosomal dominant limb girdle muscular dystrophy type 1g autosomal dominant limb-girdle muscular dystrophy caused by mutation in hnrnpdl hnrnpdl autosomal dominant limb-girdle muscular dystrophy hnrnpdl-related lgmd d3 hnrnpdl-related limb-girdle muscular dystrophy d3 lgmd type 1g lgmd1g lgmdd3 muscular dystrophy limb-girdle type 1g muscular dystrophy, limb-girdle, autosomal dominant 3 Autosomal dominant limb-girdle muscular dystrophy type 1g limb-girdle muscular dystrophy, type 1h muscular dystrophy limb-girdle type 1h Autosomal dominant limb-girdle muscular dystrophy type 1H autosomal recessive limb girdle muscular dystrophy type 2i autosomal recessive limb-girdle muscular dystrophy caused by mutation in fkrp fkrp autosomal recessive limb-girdle muscular dystrophy fkrp-related lgmd r9 fkrp-related limb-girdle muscular dystrophy r9 lgmd due to fkrp deficiency lgmd type 2i lgmd-fkrp related limb girdle muscular dystrophy due to deficiency of fukutin related protein limb-girdle muscular dystrophy due to fkrp deficiency mddgc5 muscular dystrophy limb-girdle type 2i muscular dystrophy-dystroglycanopathy (limb-girdle) type c 5 muscular dystrophy-dystroglycanopathy (limb-girdle), type c5 muscular dystrophy-dystroglycanopathy limb-girdle frkp-related Autosomal recessive limb-girdle muscular dystrophy type 2i autosomal recessive limb girdle muscular dystrophy type 2j autosomal recessive limb-girdle muscular dystrophy caused by mutation in ttn lgmd type 2j lgmd2j lgmdr10 limb-girdle muscular dystrophy 2j titin gene mutation limb-girdle muscular dystrophy, type 2j muscular dystrophy, limb-girdle, autosomal recessive 10 muscular dystrophy, limb-girdle, type 2j titin-related lgmd r10 titin-related limb-girdle muscular dystrophy r10 ttn autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2j autosomal recessive limb girdle muscular dystrophy type 2k autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt1 lgmd type 2k lgmd-pomt1 related limb girdle muscular dystrophy with intellectual disability syndrome limb-girdle muscular dystrophy-intellectual disability syndrome mddgc1 muscular dystrophy limb-girdle type 2k muscular dystrophy-dystroglycanopathy (limb-girdle) type c 1 pomt1 autosomal recessive limb-girdle muscular dystrophy pomt1-related lgmd r11 pomt1-related limb-girdle muscular dystrophy r11 Autosomal recessive limb-girdle muscular dystrophy type 2k ano5 autosomal recessive limb-girdle muscular dystrophy anoctamin-5-related lgmd r12 anoctamin-5-related limb-girdle muscular dystrophy r12 autosomal recessive limb girdle muscular dystrophy type 2l autosomal recessive limb-girdle muscular dystrophy caused by mutation in ano5 lgmd type 2l lgmd2l lgmdr12 limb-girdle muscular dystrophy, type 2l muscular dystrophy, limb-girdle, autosomal recessive 12 muscular dystrophy, limb-girdle, type 2l Autosomal recessive limb-girdle muscular dystrophy type 2l autosomal recessive lgmd type 2m autosomal recessive limb girdle muscular dystrophy type 2m autosomal recessive limb-girdle muscular dystrophy caused by mutation in fktn fktn autosomal recessive limb-girdle muscular dystrophy fukutin-related lgmd r13 fukutin-related limb-girdle muscular dystrophy r13 lgmd type 2m lgmd-fktn related lgmd2m mddgc4 muscular dystrophy-dystroglycanopathy (limb-girdle) type c 4 Autosomal recessive limb-girdle muscular dystrophy type 2m autosomal recessive limb girdle muscular dystrophy type 2n autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomt2 lgmd type 2n lgmd-pomt2 related lgmd2n mddgc2 muscular dystrophy-dystroglycanopathy (limb-girdle) type c 2 muscular dystrophy-dystroglycanopathy limb-girdle pomt2-related pomt2 autosomal recessive limb-girdle muscular dystrophy pomt2-related lgmd r14 pomt2-related limb-girdle muscular dystrophy r14 Autosomal recessive limb-girdle muscular dystrophy type 2n autosomal recessive limb girdle muscular dystrophy type 2o autosomal recessive limb-girdle muscular dystrophy caused by mutation in pomgnt1 lgmd type 2o lgmd-pomgnt1 related lgmd2o limb-girdle muscular dystrophy 2o pomgnt1 (protein o-mannose beta-1,2-n-acetylglucosaminyltransferase) gene mutation limb-girdle muscular dystrophy 2o pomgnt1 gene mutation limb-girdle muscular dystrophy type 3c mddgc3 muscular dystrophy-dystroglycanopathy (limb-girdle) type c3 muscular dystrophy-dystroglycanopathy limb-girdle pomgnt1-related pomgnt1 autosomal recessive limb-girdle muscular dystrophy pomgnt1-related lgmd r15 pomgnt1-related limb-girdle muscular dystrophy r15 Autosomal recessive limb-girdle muscular dystrophy type 2o alpha-dystroglycan-related lgmd r16 alpha-dystroglycan-related limb-girdle muscular dystrophy r16 autosomal recessive limb girdle muscular dystrophy type 2p autosomal recessive limb-girdle muscular dystrophy caused by mutation in dag1 dag1 autosomal recessive limb-girdle muscular dystrophy lgmd type 2p lgmd2p limb-girdle muscular dystrophy type 9c mddgc9 muscular dystrophy-dystroglycanopathy (limb-girdle) type c9 muscular dystrophy-dystroglycanopathy limb-girdle dag1-related Autosomal recessive limb-girdle muscular dystrophy type 2p autosomal recessive limb girdle muscular dystrophy type 2q autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency lgmd type 2q lgmd2q lgmdr17 muscular dystrophy, limb-girdle, autosomal recessive 17 muscular dystrophy, limb-girdle, type 2q plectin-related lgmd r17 plectin-related limb-girdle muscular dystrophy r17 Autosomal recessive limb-girdle muscular dystrophy type 2q autosomal recessive limb girdle muscular dystrophy type 2s autosomal recessive limb-girdle muscular dystrophy caused by mutation in trappc11 autosomal recessive limb-girdle muscular dystrophy type 2s lgmd type 2s lgmd2s lgmdr18 limb-girdle muscular dystrophy, type 2s muscular dystrophy, limb-girdle, autosomal recessive 18 muscular dystrophy, limb-girdle, type 2s trappc11 autosomal recessive limb-girdle muscular dystrophy trappc11-related lgmd r18 trappc11-related limb-girdle muscular dystrophy r18 Autosomal recessive limb-girdle muscular dystrophy type R18 autosomal recessive limb girdle muscular dystrophy type 2t autosomal recessive limb-girdle muscular dystrophy caused by mutation in gmppb gmppb autosomal recessive limb-girdle muscular dystrophy gmppb-related lgmd r19 gmppb-related limb-girdle muscular dystrophy r19 lgmd type 2t lgmd-gmppb related lgmd2t limb-girdle muscular dystrophy-dystroglycanopathy, type c14 mddgc14 muscular dystrophy limb-girdle type 2t muscular dystrophy-dystroglycanopathy (limb-girdle) type c14 muscular dystrophy-dystroglycanopathy limb-girdle gmppb-related Autosomal recessive limb-girdle muscular dystrophy type 2t selective IgM deficiency disease selective immunoglobulin M deficiency Selective igm deficiency aderm congenital absence of fingerprints immigration delay disease isolated congenital adermatoglyphia Adermatoglyphia familial congenital controlateral synkinesia familial congenital mirror movements hand mirror movements hereditary congenital controlateral synkinesia hereditary congenital mirror movements isolated congenital controlateral synkinesia isolated congenital mirror movements mirror hand movements mirror movements mirror movements, congenital Bimanual synkinesia ICGHD IGHD congenital IGHD congenital isolated GH deficiency congenital isolated growth hormone deficiency familial isolated growth hormone deficiency isolated growth hormone deficiency Isolated congenital growth hormone deficiency autosomal dominant intellectual disability 5 autosomal dominant non-syndromic intellectual disability caused by mutation in syngap1 epilepsy due to syngap mutations intellectual developmental disorder, autosomal dominant 5 intellectual disability, autosomal dominant type 5 mrd5 synaptic ras gtpase activating protein 1-related developmental and epileptic encephalopathy syngap1 autosomal dominant non-syndromic intellectual disability syngap1-related developmental and epileptic encephalopathy Intellectual disability, autosomal dominant 5 dysostosis multiplex syndrome gargoylism gargoylism, hurler syndrome hurler disease hurler disease mps type 1h hurler's syndrome hurler-pfaundler syndrome l-iduronidase deficiency, hurler type mps 1-h - mucopolysaccharidosis type i-h mps i h mps1h mpsih mucopolysaccharidosis type 1h mucopolysaccharidosis type i severe form mucopolysaccharidosis type i-h mucopolysaccharidosis, mps-i-h Hurler syndrome hurler-scheie disease mps type 1h/s l-iduronidase deficiency, hurler-scheie type mps i h-s mps1h/s mpsih/s mucopolysaccharidosis type 1h/s mucopolysaccharidosis type i-h/s mucopolysaccharidosis, mps-i-h/s mucopolysaccharidosis, mps-i-s Hurler-scheie syndrome l-iduronidase deficiency, scheie type mps 1-s - mucopolysaccharidosis type i-s mps i s mps1s mpsis mucopolysaccharidosis type 1s mucopolysaccharidosis type i mild form mucopolysaccharidosis type i-s mucopolysaccharidosis type is mucopolysaccharidosis type v mucopolysaccharidosis, mps-i-s scheie disease mps type 1s scheie's syndrome Scheie syndrome atypical chondrodystrophy brailsford-morquio syndrome chondro-osteodystrophy chondrodystrophia tarda deficiency of chondroitinsulphatase eccentro-osteochondrodysplasia eccentrochondrodysplasia eccentroosteochondrodysplasia familial osseous dystrophy familial osteochondrodystrophy hereditary enchondral dysostosis keratan sulfaturia morquio disease morquio-brailsford disease morquio-suarez syndrome morquio-ullrich disease mps iv mps4 mpsiv mucopolysaccharidosis type 4 mucopolysaccharidosis, mps-iv mucopolysaccharidosis, type iv osteochondrodystrophia deformans Morquio syndrome adult-onset dystonia parkinsonism adult-onset dystonia-parkinsonism autosomal recessive parkinson disease type 14 dystonia parkinsonism paisan-ruiz type dystonia-parkinsonism adult-onset dystonia-parkinsonism, paisan-ruiz type hereditary late onset parkinson disease caused by mutation in pla2g6 park14 parkinson disease 14 pla2g6 (phospholipase a2 group vi) related dystonia parkinsonism pla2g6 hereditary late onset parkinson disease pla2g6-related dystonia-parkinsonism Autosomal recessive Parkinson disease 14 c19orf12 neurodegeneration with brain iron accumulation mitochondrial membrane protein associated neurodegeneration mitochondrial protein associated neurodegeneration mitochondrial protein-associated neurodegeneration mpan nbia due to c19orf12 mutation nbia4 neurodegeneration with brain iron accumulation caused by mutation in c19orf12 neurodegeneration with brain iron accumulation due to c19orf12 mutation neurodegeneration with brain iron accumulation type 4 Neurodegeneration with brain iron accumulation 4 bpan bpan - beta-propeller protein-associated neurodegeneration nbia5 neurodegeneration with brain iron accumulation 5, x-linked dominant neurodegeneration with brain iron accumulation caused by mutation in wdr45 neurodegeneration with brain iron accumulation type 5 senda static encephalopathy of childhood with neurdegeneration in adulthood wdr45 neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation 5 coasy neurodegeneration with brain iron accumulation coenzyme a synthase protein associated neurodegeneration copan copan - coenzyme a synthase protein associated neurodegeneration nbia6 neurodegeneration with brain iron accumulation caused by mutation in coasy neurodegeneration with brain iron accumulation due to coasy mutation neurodegeneration with brain iron accumulation type 6 Neurodegeneration with brain iron accumulation 6 charcot marie tooth disease x-linked 1 charcot-marie-tooth disease type x caused by mutation in gjb1 charcot-marie-tooth disease x-linked dominant type 1 charcot-marie-tooth disease, x-linked dominant, 1 charcot-marie-tooth disease, x-linked dominant, type 1 charcot-marie-tooth disease, x-linked, 1 charcot-marie-tooth neuropathy x-linked dominant 1 charcot-marie-tooth neuropathy, x-linked dominant, 1, x-linked dominant charcot-marie-tooth neuropathy, x-linked, 1 cmtx 1 cmtx1 gjb1 charcot-marie-tooth disease type x x-linked charcot-marie-tooth disease type 1 Charcot-Marie-Tooth disease X-linked dominant 1 congenital muscular dystrophy caused by mutation in lmna congenital muscular dystrophy due to lamin a/c mutation congenital muscular dystrophy due to lmna (lamin a/c) mutation congenital muscular dystrophy lmna-related congenital muscular dystrophy, lmna-related l-cmd lamin a-related congenital muscular dystrophy lmna congenital muscular dystrophy lmna-related congenital muscular dystrophy muscular dystrophy, congenital Congenital muscular dystrophy due to lmna mutation CMD1B MDC1B congenital muscular dystrophy type 1B Congenital muscular dystrophy 1B congenital muscular dystrophy caused by mutation in itga7 congenital muscular dystrophy with integrin alpha-7 deficiency congenital muscular dystrophy with itga7 (integrin alpha-7) deficiency congenital muscular dystrophy with itga7 deficiency congenital myopathy due to integrin alpha-7 deficiency itga7 congenital muscular dystrophy Congenital muscular dystrophy due to integrin alpha-7 deficiency cfeom congenital fibrosis of the extraocular muscles congenital fibrosis syndrome congenital ophthalmoplegia feom fibrosis of extraocular muscles, congenital fibrosis of extraocular muscles, congenital, type 1 Congenital fibrosis of extraocular muscles admerf distal myopathy with early respiratory muscle involvement edstrom myopathy edström myopathy hereditary inclusion body myopathy with early respiratory failure hereditary myopathy with early respiratory failure hereditary proximal myopathy with early respiratory failure hibm-erf hmerf hmerf - hereditary myopathy with early respiratory failure hmerf-erf mfm-titinopathy mfm9 mprm - myopathy, proximal, with early respiratory muscle involvement myofibrillar myopathy with early respiratory failure myofibrillar myopathy-titinopathy myopathy, distal, with early respiratory failure, autosomal dominant myopathy, proximal, with early respiratory muscle involvement Myopathy, myofibrillar, 9, with early respiratory failure oculopharyngeal distal myopathy opdm opdm - oculopharyngodistal myopathy Oculopharyngodistal myopathy familial partial lipodystrophy 1 familial partial lipodystrophy kobberling type familial partial lipodystrophy type 1 fpld1 Familial partial lipodystrophy, Kobberling type akt serine/threonine kinase 2-related familial partial lipodystrophy akt2-related fpld AKT2-related familial partial lipodystrophy familial partial lipodystrophy type 3 fpld3 fpld3 - familial partial lipodystrophy type 3 peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy pparg-related fpld PPARG-related familial partial lipodystrophy fpld4 fpld4 - familial partial lipodystrophy type 4 perilipin 1 related familial partial lipodystrophy plin1-related fpld PLIN1-related familial partial lipodystrophy acquired lipoatrophic diabetes acquired lipodystrophic diabetes acquired total lipoatrophy lawrence syndrome lawrence-seip syndrome Acquired generalized lipodystrophy combined insulin, insulin-like growth factor 1 (igf1) and epidermal growth factor (egf) deficiency combined insulin, insulin-like growth factor 1 and epidermal growth factor deficiency hoepffner-dreyer-reimers syndrome Lipodystrophy due to peptidic growth factors deficiency Charlie M syndrome cardiac valvular form of autosomal recessive ehlers-danlos syndrome cardiac valvular form of ehlers-danlos syndrome cardiac-valvular eds cardiac-valvular ehlers-danlos syndrome col1a2-related ehlers-danlos syndrome, cardiac valvular type cveds eds, cardiac valvular type edscv ehlers-danlos syndrome cardiac valvular type ehlers-danlos syndrome, autosomal recessive, cardiac valvular form Ehlers-danlos syndrome, cardiac valvular type adenosylcobalamin deficiency adenosylcobalamin synthesis defect methylmalonic acidemia due to defects in adenosylcobalamin biosynthesis methylmalonic aciduria, type ii vitamin b12-responsive methylmalonic aciduria Vitamin b12-responsive methylmalonic acidemia stapes ankylosis with broad thumb and toe syndrome teunissen cremers syndrome teunissen-cremers syndrome Stapes ankylosis with broad thumbs and toes mmds - multiple mitochondrial dysfunctions syndrome multiple mitochondrial dysfunctions syndrome Fatal multiple mitochondrial dysfunctions syndrome LMS Laurence-moon syndrome imd68 immunodeficiency 68 myd88 deficiency myd88d pyogenic bacterial infections, recurrent, due to myd88 deficiency recurrent pyogenic bacterial infections due to myd88 deficiency Pyogenic bacterial infections due to MyD88 deficiency alx1-related frontonasal dysplasia frontonasal dysplasia type 3 frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome alx4-related fndag craniofrontonasal dysplasia with alopecia and hypogonadism frontonasal dysplasia type 2 frontonasal dysplasia with alopecia and genital abnomality frontonasal dysplasia-alopecia-genital anomalies syndrome Frontonasal dysplasia with alopecia and genital anomaly alx homeobox 3-related frontonasal dysplasia alx3-related frontonasal dysplasia frontonasal dysplasia type 1 isolated median cleft face syndrome Frontorhiny LCCS Lethal congenital contracture syndrome Israeli Bedouin type B multiple contracture syndrome LCCS3 PIP5K1C lethal congenital contracture syndrome lethal congenital contractural syndrome 3 lethal congenital contracture syndrome caused by mutation in PIP5K1C lethal congenital contracture syndrome type 3 Lethal congenital contracture syndrome 3 MYBPC1 lethal congenital contracture syndrome lethal congenital contracture syndrome caused by mutation in MYBPC1 lethal congenital contracture syndrome type 4 Lethal congenital contracture syndrome 4 congenital anterior megalophthalmia megalocornea 1, X-linked, X-linked recessive Isolated congenital megalocornea free-living ameba infection specific infections by free-living amebae Amoebiasis due to free-living amoebae gae - granulomatous amebic encephalomyelitis granulomatous amebic encephalomyelitis granulomatous amoebic encephalitis pam - primary amebic meningoencephalitis Granulomatous amebic encephalitis lbsl lbsl - leukoencephalopathy with brainstem and spinal cord involvement with lactate elevation leukoencephalopathy with brain stem and spinal cord involvement and high lactate syndrome leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation syndrome leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, mild Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome dedicator of cytokinesis 2 deficiency immunodeficiency type 40 DOCK2 deficiency aflh angiofollicular ganglionic hyperplasia angiofollicular lymph hyperplasia angiofollicular lymph node hyperplasia angiolymphoid hyperplasia angiomatous lymphoid hamartoma benign angiofollicular hyperplasia castleman's tumour glnh lymphoid hamartoma Castleman disease congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency congenital adrenal hyperplasia due to cytochrome por deficiency por deficiency pord Congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency 21-hydroxylase-deficient congenital adrenal hyperplasia 21-ohd classic 21-ohd cah Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, x-linked dominant intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia micpch x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome Syndromic X-linked intellectual disability Najm type Addison anaemia Addison anemia Addison's anaemia Addison's anemia Addison-Biermer anaemia Addison-Biermer anemia Biermer anaemia Biermer anemia Biermer disease Biermer's anaemia Biermer's anemia acquired pernicious anaemia acquired pernicious anemia anaemia pernicious anemia pernicious intrinsic factor deficiency juvenile onset pernicious anaemia juvenile onset pernicious anemia Pernicious anemia actinic lp lichen planus actinicus lichen planus actinus lichen planus subtropicus lichen planus tropicus lichenoid melanodermatitis summertime actinic lichenoid eruption Actinic lichen planus annular lp lichen planus annularis Annular lichen planus atrophic lp lichen planus atrophicus Atrophic lichen planus annular atrophic LP Annular atrophic lichen planus LP pemphigoides Lichen planus pemphigoides Lipoic acid synthetase deficiency inborn error of lipoate biosynthetic process inborn lipoate biosynthetic process disorder lipoate biosynthesis defect rare inborn error of lipoate biosynthetic process Inherited lipoic acid biosynthesis defect Lipoyl transferase 1 deficiency childhood-onset spasticity with variant non-ketotic hyperglycinemia spahgc spasticity, ataxia, gait anomalies syndrome spasticity, childhood-onset, with hyperglycinemia Spasticity-ataxia-gait anomalies syndrome familial infantile scoliosis associated with bilateral paralysis of conjugate gaze hgpps hgpps - horizontal gaze palsy with progressive scoliosis progressive external ophthalmoplegia and scoliosis Horizontal gaze palsy with progressive scoliosis feps feps - familial episodic pain syndrome Familial episodic pain syndrome diffuse cutaneous maculopapulous mastocytosis Diffuse cutaneous mastocytosis cutaneous local mastocytoma mast cell nevus mastocytoma of skin multiple mastocytoma solitary cutaneous mastocytoma solitary mastocytoma Cutaneous mastocytoma cip congenital insensitivity to pain congenital pain insensitivity hereditary sensory neuropathy hereditary sensory peripheral neuropathy hsan hsan - hereditary sensory and autonomic neuropathy indifference to pain, congenital, autosomal recessive Hereditary sensory and autonomic neuropathy Perineurioma Summitt syndrome koenig disease konig disease könig disease ocd ocd - osteochondritis dissecans od od - osteochondritis dissecans osteochondritis dissecans (disease) osteochondrosis dissecans Osteochondritis dissecans collagen VI-related dystrophy collagen VI-related muscle disorder collagen VI-related muscular dystrophy collagen VI-related myopathy Collagen 6-related myopathy plmt syndrome Painful legs and moving toes syndrome congenital vocal cord palsy congenital vocal cord paralysis Congenital laryngeal palsy x-linked intellectual disability, hypotonia, movement disorder syndrome X-linked intellectual disability-hypotonia-movement disorder syndrome Elastoderma ar-cnm centronuclear myopathy, autosomal recessive centronuclear myopathy, recessive Autosomal recessive centronuclear myopathy ad-cnm autosomal dominant centronuclear myopathy caused by mutation in myf6 centronuclear myopathy, autosomal dominant centronuclear myopathy, autosomal, modifier of myopathy, centronuclear, 1 myopathy, centronuclear, 3 myopathy, centronuclear, autosomal dominant myopathy, centronuclear, type 1 myopathy, centronuclear, type 3 myotubular myopathy, autosomal dominant Autosomal dominant centronuclear myopathy Fingerprint body myopathy dskod dyskinesia, familial, with facial myokymia familial dyskinesia and facial myokymia fdfm Dyskinesia with orofacial involvement, autosomal dominant periventricular heterotopia pvnh pvnh - periventricular nodular heterotopia Periventricular nodular heterotopia x-linked auditory neuropathy with peripheral sensory neuropathy type 1 x-linked hsan (hereditary sensory and autonomic neuropathy) with deafness x-linked hsan with hearing loss X-linked hereditary sensory and autonomic neuropathy with hearing loss autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in scn11a cip with hyperhidrosis and gastrointestinal dysfunction congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction hsan vii hsan with hyperhidrosis and gastrointestinal dysfunction hsan7 hsan7- hereditary sensory and autonomic neuropathy type 7 scn11a autosomal dominant hereditary sensory and autonomic neuropathy Hereditary sensory and autonomic neuropathy type 7 Peripheral resistance to thyroid hormones chitayat-meunier-hodgkinson syndrome pierre robin sequence faciodigital anomaly syndrome pierre robin sequence-faciodigital anomaly syndrome Pierre Robin syndrome-faciodigital anomaly syndrome congo red negative amyloidosis like glomerulopathy congo red-negative amyloidosis-like glomerulopathy fibrillary glomerulonephritis non-amyloid fibrillary glomerulonephritis Non-amyloid fibrillary glomerulopathy Immunotactoid or fibrillary glomerulonephritis Immunotactoid or fibrillary glomerulopathy JPM juvenile PM Juvenile polymyositis cipo intestinal pseudo-obstruction, chronic Chronic intestinal pseudoobstruction SPG32 autosomal recessive spastic paraplegia 32 autosomal recessive spastic paraplegia type 32 hereditary spastic paraplegia type 32 Hereditary spastic paraplegia 32 acute granulocytic leukaemia acute granulocytic leukemia acute myeloblastic leukaemia acute myelocytic leukaemia acute myelocytic leukemia acute myelogenous leukaemia acute myeloid leukaemia acute myeloid leukaemia (aml) acute myeloid leukemia (aml) acute myeloid leukemia, adult acute myeloid leukemia, disease acute myeloid leukemia, somatic acute non-lymphocytic leukemia acute nonlymphocytic leukaemia acute nonlymphocytic leukemia aml aml - acute myeloblastic leukemia aml - acute myeloid leukaemia aml adult anll familial acute myelocytic leukemia hematopoeitic - acute myleogenous leukaemia (aml) leukemia, acute myelogenous, somatic leukemia, acute myeloid, autosomal dominant, somatic mutation leukemia, acute myeloid, reduced survival in, somatic leukemia, acute myeloid, somatic leukemia, acute myeloid, susceptibility to, autosomal dominant, somatic mutation leukemia, myelocytic, acute myeloid leukemia, acute myeloid leukemia, acute, m4/m4eo subtype, somatic Acute myeloid leukemia 3)(p21 3)(q21 acute myeloid leukemia with mecom rearrangement aml with inv3(p21 aml with inv3(q21 q26.2) q26.2) or t(3 Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2) AML, NOS acute myeloid leukaemia NOS acute myeloid leukaemia not otherwise categorised acute myeloid leukaemia not otherwise specified acute myeloid leukemia NOS acute myeloid leukemia not otherwise categorized acute myeloid leukemia not otherwise specified acute myeloid leukemia, NOS unclassified AML unclassified acute myeloid leukaemia unclassified acute myeloid leukemia Acute myeloid leukemia by FAB classification aml with myelodysplasia-related features de novo acute myeloid leukaemia with multilineage dysplasia Acute myeloid leukemia with multilineage dysplasia extramedullary myeloid tumour myeloid sarcoma, disease sarcoma, myeloid, malignant Myeloid sarcoma leukemia, transient, of down syndrome tam tmd transient abnormal myelopoiesis transient leukaemia transient leukaemia of down syndrome transient leukemia transient leukemia of down syndrome transient leurkemia of down syndrome transient myeloproliferative disease transient myeloproliferative syndrome (disease) Transient myeloproliferative syndrome chromosome xp11.23-p11.22 duplication syndrome, x-linked dominant dup(x)(p11.22p11.23) microduplication xp11.22-p11.23 syndrome microduplication xp11.22p11.23 syndrome trisomy xp11.22-p11.23 trisomy xp11.22p11.23 xp11.22-p11.23 microduplication Chromosome xp11.23-p11.22 duplication syndrome RCVS Reversible cerebral vasoconstriction syndrome DEE20 GPIBD4 MCAHS type 2 MCAHS2 PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability developmental and epileptic encephalopathy 20 epileptic encephalopathy, early infantile, 20 glycosylphosphatidylinositol biosynthesis defect 4 multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive multiple congenital anomalies-hypotonia-seizures syndrome type 2 multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2 fram fram - familial retinal arterial macroaneurysm ramsvps - retinal arterial macroaneurysm with supravalvular pulmonic stenosis retinal arterial macroaneurysm and supravalvular pulmonic stenosis Familial retinal arterial macroaneurysm PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability PIGN-CDG congenital disorder of glycosylation due to PIGN deficiency inherited GPI anchor-deficiency multiple congenital anomalies-hypotonia-seizures syndrome type 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1 livedoid vasculitis milian atrophie blanche segmental hyalinizing vasculitis Livedoid vasculopathy cementifying fibroma cementifying fibroma, calcified structure fibro-osteoma fibroma, ossifying, benign ossifying fibroma (disease) ossifying fibroma, calcified structure Ossifying fibroma autosomal recessive dystrophic epidermolysis bullosa generalisata mitis autosomal recessive dystrophic epidermolysis bullosa, generalised other autosomal recessive dystrophic epidermolysis bullosa, generalized other autosomal recessive dystrophic epidermolysis bullosa, non-hallopeau-siemens type autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form generalised mitis rdeb generalized mitis rdeb generalized rdeb, intermediate form rdeb generalisata mitis rdeb, generalised intermediate rdeb, generalized intermediate rdeb, non-hallopeau-siemens type rdeb-generalized other rdeb-o rdeb-o - recessive dystrophic epidermolysis bullosa-generalized other recessive dystrophic epidermolysis bullosa non-hallopeau siemens type recessive dystrophic epidermolysis bullosa, non-hallopeau-siemens type Recessive dystrophic epidermolysis bullosa-generalized other capdepont teeth dentinogenesis imperfecta - shield's type ii dentinogenesis imperfecta type 1 dentinogenesis imperfecta, shields type 2 dentinogenesis imperfecta, shields type ii dgi-2 di-2 hereditary opalescent dentine Dentinogenesis imperfecta type 2 early-onset familial alzheimer disease early-onset familial autosomal dominant alzheimer disease eofad Early-onset autosomal dominant alzheimer disease AD2 Alzheimer disease 2, late onset Alzheimer disease associated with APOE E4 Alzheimer disease associated with APOE4 Alzheimer disease type 2 Alzheimer disease-2 Alzheimer's disease 2 Alzheimer's disease type 2 late onset Alzheimer disease late onset familial Alzheimer disease late-onset familial alzheimer disease Alzheimer disease 2 psc psc - primary sclerosing cholangitis Primary sclerosing cholangitis phts pten hamartomatous tumour syndrome PTEN hamartoma tumor syndrome cohen-hayden syndrome proteus like syndrome Proteus-like syndrome autosomal dominant spondylocostal dysplasia spondylocostal dysostosis, autosomal dominant Autosomal dominant spondylocostal dysostosis smdys smooth muscle dysfunction syndrome Multisystemic smooth muscle dysfunction syndrome del(8)(q24.3) deletion 8q24.3 monosomy 8q24.3 verheij syndrome 8q24.3 microdeletion syndrome autosomal dominant intellectual disability 18 gand intellectual disability, autosomal dominant type 18 mrd18 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome dup(8)(q12) trisomy 8q12 8q12 microduplication syndrome localised pustular psoriasis localized pustular psoriasis lpp palmoplantar pustular psoriasis palmoplantar pustules ppp ppp - palmoplantar pustulosis pustular acrodermatitis pustular psoriasis of palms and soles pustular psoriasis of the palms and/or soles pustulosis of palm and sole pustulosis of palms and soles pustulosis palmaris et plantaris recalcitrant pustular eruption of palms and soles Palmoplantar pustulosis Severe congenital nemaline myopathy Typical nemaline myopathy Intermediate nemaline myopathy nemaline myopathy, late onset type Adult-onset nemaline myopathy FOXG1-related epileptic-dyskinetic encephalopathy FOXG1 syndrome hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome Hypotrichosis-lymphedema-telangiectasia syndrome atypical mycobacterial infection of lung non-tuberculous mycobacterial lung disease Pulmonary non-tuberculous mycobacterial infection accelerated interstitial pneumonia aip hamman rich syndrome hamman-rich disease hamman-rich syndrome idiopathic pulmonary fibrosis, acute fatal form Acute interstitial pneumonia dpl dpl - disseminated peritoneal leiomyomatosis leiomyomatosis peritonealis disseminate leiomyomatosis, peritonealis disseminata lpd lpd - leiomyomatosis peritonealis disseminata lpd - leiomyomatosis peritonealis disseminate Disseminated peritoneal leiomyomatosis high myopia-sensorineural hearing loss syndrome High myopia-sensorineural deafness syndrome chops syndrome cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome GRIN2B autosomal dominant non-syndromic intellectual disability MRD6 autosomal dominant intellectual disability 6 autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B intellectual developmental disorder, autosomal dominant 6, with or without seizures intellectual disability, autosomal dominant type 6 Intellectual disability, autosomal dominant 6 familial rectal pain submandibular, ocular and rectal pain with flushing Paroxysmal extreme pain disorder aoa2 aoa2 - ataxia oculomotor apraxia type 2 ataxia with oculomotor apraxia ataxia with oculomotor apraxia 2 ataxia-ocular apraxia 2 ataxia-ocular apraxia-2 ataxia-oculomotor apraxia 2 ataxia-oculomotor apraxia type 2 autosomal recessive cerebellar ataxia with oculomotor apraxia type 2 scan 2 scan2 scar1 - spinocerebellar ataxia autosomal recessive 1 spinocerebellar ataxia with axonal neuropathy type 2 spinocerebellar ataxia, autosomal recessive 1 spinocerebellar ataxia, autosomal recessive type 1 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 generalised PSS generalised deciduous skin generalized PSS generalized deciduous skin peeling skin syndrome type 1 Generalized peeling skin syndrome acral PSS acral deciduous skin localised PSS localised deciduous skin localized PSS localized deciduous skin peeling skin syndrome type 2 Acral peeling skin syndrome hyperlipidemia due to HL deficiency hyperlipidemia due to HTGL deficiency hyperlipidemia due to hepatic lipase deficiency Hyperlipidemia due to hepatic triglyceride lipase deficiency acth producing pituitary adenoma corticotroph pituitary adenoma cushing basophilism cushing disease due to pituitary adenoma cushing disease, pituitary pita4 pituitary acth hypersecretion pituitary adenoma 4, acth-secreting pituitary adenoma 4, acth-secreting, somatic pituitary adenoma, acth-secreting pituitary adenoma, acth-secreting, somatic pituitary corticotroph micro-adenoma pituitary cushing syndrome pituitary dependent cushing disease pituitary dependent cushing syndrome pituitary hyperadrenal corticism pituitary-dependent cushing syndrome Pituitary dependent hypercortisolism idiopathic retinal vasculitis, aneurysms, neuroretinitis syndrome idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome irvan (idiopathic retinal vasculitis, aneurysms, neuroretinitis) syndrome IRVAN syndrome abcb11 progressive familial intrahepatic cholestasis bsep (bile salt export pump) deficiency bsep deficiency cholestasis, progressive familial intrahepatic 2 cholestasis, progressive familial intrahepatic, type 2 pfic2 pfic2 - progressive familial intrahepatic cholestasis type 2 progressive familial intrahepatic cholestasis caused by mutation in abcb11 Progressive familial intrahepatic cholestasis type 2 cas developmental verbal dyspraxia dvd - developmental verbal apraxia isolated cas isolated childhood apraxia of speech isolated developmental verbal dyspraxia pure cas pure childhood apraxia of speech speech and language disorder with orofacial dyspraxia speech language disorder speech-language disorder type 1 Childhood apraxia of speech abcb4 progressive familial intrahepatic cholestasis cholestasis, progressive familial intrahepatic 3 cholestasis, progressive familial intrahepatic, type 3 low gamma-gt familial intrahepatic cholestasis pfic3 progressive familial intrahepatic cholestasis caused by mutation in abcb4 Progressive familial intrahepatic cholestasis type 3 COXPD16 MRPL44 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 16 combined oxidative phosphorylation deficiency caused by mutation in MRPL44 combined oxidative phosphorylation deficiency type 16 Infantile hypertrophic cardiomyopathy due to mrpl44 deficiency Combined oxidative phosphorylation deficiency zika zika virus caused disease or disorder zika virus disease zika virus disease or disorder zikv infection Zika virus infectious disease dee4 early infantile epileptic encephalopathy caused by mutation in stxbp1 eiee4 epileptic encephalopathy, early infantile, 4 epileptic encephalopathy, early infantile, type 4 stxbp1 (syntaxin binding protein 1) epileptic encephalopathy stxbp1 early infantile epileptic encephalopathy stxbp1 encephalopathy with epilepsy stxbp1-related encephalopathy stxbp1-related epileptic encephalopathy syntaxin binding protein 1 encephalopathy with epilepsy Developmental and epileptic encephalopathy, 4 bbsoas bbsoas - bosch boonstra schaaf optic atrophy syndrome bosch boonstra schaaf optic atrophy syndrome optic atrophy, intellectual disability syndrome optic atrophy-intellectual disability syndrome Bosch-boonstra-schaaf optic atrophy syndrome pmse (polyhydramnios, megalencephaly, symptomatic epilepsy) syndrome pmse syndrome polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Polyhydramnios, megalencephaly, and symptomatic epilepsy IKBKG X-linked mendelian susceptibility to mycobacterial diseases IKBKG invasive pneumococcal disease, recurrent isolated IMD33 IPD2 X-linked MSMD due to IKBKG deficiency X-linked MSMD due to NEMO deficiency X-linked mendelian susceptibility to mycobacterial diseases caused by mutation in IKBKG X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency immunodeficiency 33, Mycobacteriosis, X-linked immunodeficiency 33, X-linked recessive immunodeficiency type 33 immunodeficiency without anhidrotic ectodermal dysplasia immunodeficiency, isolated immunodeficiency, pure invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG invasive pneumococcal disease, recurrent isolated, 2 invasive pneumococcal disease, recurrent isolated, type 2 Immunodeficiency 33 Rh-null syndrome anemia, hemolytic, Rh-null, regulator type Rh deficiency syndrome malignant migrating focal seizures of infancy malignant migrating partial epilepsy of infancy migrating partial epilepsy of infancy migrating partial seizures of infancy mmpei mmpsi mmpsi - malignant migrating partial seizures of infancy mpei Malignant migrating partial seizures of infancy Familial Calcium Pyrophosphate Deposition Disease calcium pyrophosphate dihydrate crystal deposition disease chondrocalcinosis type 2 familial CC familial CPPD familial articular chondrocalcinosis familial calcium pyrophosphate deposition familial calcium pyrophosphate dihydrate deposition disease hereditary CC hereditary articular chondrocalcinosis hereditary calcium pyrophosphate deposition Chondrocalcinosis 2 eb progressive epidermolysis bullosa progressiva jeb-lo late-onset jeb Late-onset junctional epidermolysis bullosa gabeb generalised atrophic benign epidermolysis bullosa generalised junctional epidermolysis bullosa, non-herlitz type generalized atrophic benign epidermolysis bullosa generalized atrophic benign epidermolysis bullosa - gabeb generalized junctional epidermolysis bullosa, non-herlitz type intermediate generalized jeb intermediate generalized junctional epidermolysis bullosa jeb, generalised intermediate jeb, generalized intermediate jeb-nh gen junctional epidermolysis bullosa disentis type junctional epidermolysis bullosa generalisata mitis junctional epidermolysis bullosa generalized intermediate junctional epidermolysis bullosa mitis junctional epidermolysis bullosa, disentis type Generalized junctional epidermolysis bullosa non-Herlitz type jeb-nh loc junctional epidermolysis bullosa, non-herlitz localized type localized jeb localized junctional epidermolysis bullosa localized junctional epidermolysis bullosa non-herlitz type localized non-herlitz junctional epidermolysis bullosa Localized junctional epidermolysis bullosa, non-Herlitz type familial multiple lipomata fml Familial multiple lipomatosis Sudden sensorineural hearing loss activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder adnp-related multiple congenital anomalies, intellectual disability, autism spectrum disorder adnp-related syndromic intellectual disability-autism spectrum disorder autosomal dominant intellectual disability 28 hvdas mrd28 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder familial x-linked hypophosphatemic vitamin d refractory rickets hereditary hypophosphatemic rickets, x-linked hypophosphatemia, vitamin d-resistant rickets hypophosphatemic rickets x-linked dominant hypophosphatemic rickets, x-linked hypophosphatemic rickets, x-linked dominant, x-linked dominant rickets, vitamin d-resistant vitamin d-resistant rickets, x-linked vitamin d-resistant rickets, x-linked x-linked hereditary hypophosphatemic rickets xlh xlhrd X-linked dominant hypophosphatemic rickets C1QD C1q deficiency arse x-linked chondrodysplasia punctata brachytelephalangic chondrodysplasia punctata chondrodysplasia punctata, x-linked recessive chondrodysplasia punctata, x-linked recessive, x-linked recessive x-linked chondrodysplasia punctata caused by mutation in arse X-linked chondrodysplasia punctata 1 3-methylglutaconic aciduria caused by mutation in serac1 3-methylglutaconic aciduria type 6 3-methylglutaconic aciduria type iv with sensorineural deafness, encephalopathy and leigh-like syndrome 3-methylglutaconic aciduria with deafness-encephalopathy-leigh-like syndrome 3-methylglutaconic aciduria with hearing loss-encephalopathy-leigh-like syndrome 3-methylglutaconic aciduria, type vi megdel megdel syndrome mgca6 serac1 3-methylglutaconic aciduria 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 3-methylglutaconic aciduria caused by mutation in dnajc19 dcma dcma syndrome dilated cardiomyopathy with ataxia syndrome dnajc19 3-methylglutaconic aciduria mga, type v mga5 mgca5 3-methylglutaconic aciduria type 5 giant cell histiocytoma reticulohistiocytic granuloma (morphologic abnormality) reticulohistiocytoma reticulohistiocytoma cutis Reticulohistiocytic granuloma carpus curvus madelung wrist deformity madelung's deformity Madelung deformity idiopathic infection caused by bcg or atypical mycobacteria mammalian susceptibility to mycobacterial disease mendelian susceptibility to atypical mycobacteria mendelian susceptibility to mycobacterial diseases mendelian susceptibility to mycobacterial infections msmd mycobacterium caused genetic susceptibility to infections due to particular pathogens mycobacterium genetic susceptibility to infections due to particular pathogens Inherited susceptibility to mycobacterial diseases Proximal myopathy with extrapyramidal signs chondrodysplasia punctata Sheffield type chondrodysplasia punctata, Sheffield type chondrodysplasia punctata, autosomal dominant Autosomal dominant chondrodysplasia punctata monoclonal mcad monoclonal mcad (mast cell activation disorder) primary mast cell activation syndrome primary mcas Monoclonal mast cell activation syndrome disorder of mast cell activation macs mast cell activation disease mcad - mast cell activation disorder Mast cell activation syndrome congenital folate malabsorption congenital malabsorption of folic acid folate transport defect Congenital defect of folate absorption acad9 deficiency acyl-coa dehydrogenase family, member 9, deficiency of mitochondrial complex i deficiency due to acad9 deficiency mitochondrial complex i deficiency, nuclear type 20 Acyl-coa dehydrogenase 9 deficiency aquagenic keratoderma aquagenic syringeal acrokeratoderma aquagenic wrinkling of palms aquagenic wrinkling of the palms Aquagenic palmoplantar keratoderma aniridia cerebellar ataxia mental deficiency aniridia, cerebellar ataxia and mental deficiency aniridia, cerebellar ataxia, and intellectual disability aniridia, cerebellar ataxia, and mental deficiency aniridia, cerebellar ataxia, intellectual disability syndrome aniridia-cerebellar ataxia-intellectual disability syndrome glsp Gillespie syndrome acromesomelic dysplasia 2a acromesomelic dysplasia grebe type acromesomelic dysplasia, grebe type chondrodysplasia, grebe type grebe chondrodysplasia grebe dysplasia langer-saldino achondrogenesis type ii achondrogenesis Grebe syndrome intermittent cutaneous lupus let Lupus erythematosus tumidus budd chiari syndrome hepatic sinusoidal obstruction syndrome hepatic vod terminal hepatic lobular vascular occlusion veno-occlusive disease of the liver Hepatic veno-occlusive disease hereditary m hemoglobinopathy hereditary methemoglobinemia due to globin chain mutation hereditary methemoglobinuria m hemoglobinopathy methemoglobinemia, beta type Hemoglobin m disease ellis van creveld syndrome evc evc - ellis-van creveld syndrome evc-related ellis-van creveld syndrome evc2-related ellis-van creveld syndrome mesodermic dysplasia mesoectodermal dysplasia Ellis-van creveld syndrome aav anca-associated vasculitis antineutrophil cytoplasmic antibody (anca) positive vasculitis antineutrophil cytoplasmic antibody positive vasculitis antineutrophil cytoplasmic antibody-associated vasculitis Anti-neutrophil cytoplasmic antibody-associated vasculitis Congenital Leptin Deficiency obesity, morbid, due to leptin deficiency Obesity due to congenital leptin deficiency il10 (interleukin 10) related early-onset inflammatory bowel disease il10-related early-onset ibd immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection syndrome immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome interleukin 10 related early-onset inflammatory bowel disease IL10-related early-onset inflammatory bowel disease pxmd-echs1 Mitochondrial short-chain enoyl-coa hydratase 1 deficiency capillary lymphatic malformation cutaneous lymphangioma circumscriptum microcystic infiltrating lymphatic malformation microcystic lymphangioma superficial lymphangioma superficial lymphatic malformation Microcystic lymphatic malformation nevus, woolly hair, somatic woolly hair nevus Wooly hair nevus EAE Gleich syndrome Gleich's syndrome Episodic angioedema with eosinophilia chordoma (disease) chordoma, malignant notochordal sarcoma notochordoma Chordoma deafness - lymphedema - leukemia syndrome Deafness-lymphedema-leukemia syndrome CDCBM1 TUBB3 complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations caused by mutation in TUBB3 complex cortical dysplasia with other brain malformations type 1 cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation cortical dysplasia, Complex, with Other brain malformations type 1 Complex cortical dysplasia with other brain malformations 1 islet cell tumors - pancreas islet cell tumors of the pancreas islet cell tumour islet cell tumours - pancreas islet cell tumours of the pancreas pnet well differentiated pancreatic endocrine tumor well differentiated pancreatic endocrine tumour well-differentiated nen of pancreas well-differentiated neuroendocrine neoplasm of pancreas well-differentiated pancreatic nen Neuroendocrine pancreatic tumor nld - necrobiosis lipoidica oppenheim-urbach disease Necrobiosis lipoidica thrombophilia 3 due to protein C deficiency, autosomal recessive Thrombophilia due to protein c deficiency, autosomal recessive autosomal dominant intellectual disability 17 intellectual disability, autosomal dominant type 17 intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome mrd17 shms Schuurs-hoeijmakers syndrome benign bone giant cell tumor benign bone giant cell tumour bone giant cell tumor gct of bone giant cell neoplasm of bone giant cell tumor of bone (morphologic abnormality) giant cell tumor of bone nos (morphologic abnormality) giant cell tumor, benign giant cell tumour of bone giant cell tumour of bone (morphologic abnormality) giant cell tumour of bone nos (morphologic abnormality) giant cell tumour of the bone gtct - giant cell tumor of bone osteoclastoma, benign Giant cell tumor of bone Chorea, benign familial Congenital analbuminemia autosomal dominant multiple pterygium syndrome contractures, pterygia, and spondylocarpostarsal fusion syndrome 1a contractures, pterygia, and variable skeletal fusions syndrome 1a cpsfs1a distal arthrogryposis type 8 multiple pterygium syndrome, autosomal dominant multiple pterygium syndrome, dominant Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a da5d da5d - distal arthrogryposis type 5d distal arthrogryposis caused by mutation in ecel1 distal arthrogryposis type 5 without ophthalmoparesis distal arthrogryposis type 5 without ophthalmoplegia ecel1 distal arthrogryposis Distal arthrogryposis type 5d dee7 early infantile epileptic encephalopathy 7 eiee7 epileptic encephalopathy, early infantile, type 7 kcnq2-nee kcnq2-related epileptic encephalopathy kcnq2-related neonatal epileptic encephalopathy Developmental and epileptic encephalopathy, 7 genuine diffuse phlebectasia Bockenheimer syndrome MADSAM multifocal acquired demyelinating sensory and motor neuropathy Lewis-Sumner syndrome HOMG1 HSH PHSH TRPM6 familial primary hypomagnesemia TRPM6 primary hypomagnesemia familial primary hypomagnesemia caused by mutation in TRPM6 hypomagnesemia caused by selective magnesium malabsorption hypomagnesemia intestinal type 1 hypomagnesemic tetany intestinal hypomagnesemia type 1 intestinal hypomagnesemia with secondary hypocalcemia primary hypomagnesemia caused by mutation in TRPM6 primary hypomagnesemia with secondary hypocalcemia Intestinal hypomagnesemia 1 follicular nevus nevus comedonicus, somatic Nevus comedonicus syndrome dipg dipg - diffuse intrinsic pontine glioma Diffuse intrinsic pontine glioma dee13 early infantile epileptic encephalopathy 13 early infantile epileptic encephalopathy caused by mutation in scn8a early infantile epileptic encephalopathy-13 eiee13 epileptic encephalopathy, early infantile, 13 epileptic encephalopathy, early infantile, type 13 scn8a (sodium voltage-gated channel alpha subunit 8) related epilepsy with encephalopathy scn8a early infantile epileptic encephalopathy scn8a-related epilepsy scn8a-related epilepsy with encephalopathy sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy Developmental and epileptic encephalopathy, 13 transcortin deficiency Corticosteroid-binding globulin deficiency dent syndrome dent's disease low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis renal fanconi syndrome with nephrocalcinosis and renal stones x-linked recessive hypercalciuric hypophosphatemic rickets x-linked recessive nephrolithiasis Dent disease mirage mirage (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy) syndrome myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy syndrome myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome Mirage syndrome PERM progressive encephalomyelitis with rigidity Progressive encephalomyelitis with rigidity and myoclonus aoa4 ataxia-oculomotor apraxia type 4 oculomotor apraxia or related oculomotor disease caused by mutation in pnkp pnkp oculomotor apraxia or related oculomotor disease Ataxia - oculomotor apraxia type 4 ataxia-oculomotor apraxia 3 Ataxia with oculomotor apraxia type 3 ILFS2 NBAS infantile liver failure infantile liver failure caused by mutation in NBAS infantile liver failure syndrome type 2 Infantile liver failure syndrome 2 acute infantile liver failure-multisystemic involvement syndrome infantile liver failure caused by mutation in lars infantile liver failure syndrome type 1 lars infantile liver failure Infantile liver failure syndrome 1 CTEPH Chronic thromboembolic pulmonary hypertension cell death inducing dffa like effector c-related familial partial lipodystrophy cidec-related fpld familial partial lipodystrophy 5 fpld5 fpld5 - familial partial lipodystrophy type 5 CIDEC-related familial partial lipodystrophy familial partial lipodystrophy 6 familial partial lipodystrophy associated with lipe mutations fpld6 fpld6 - familial partial lipodystrophy type 6 lipase e, hormone sensitive type-related familial partial lipodystrophy lipe-related fpld LIPE-related familial partial lipodystrophy choroid plexus calcification and impaired intellectual development Infantile choroidocerebral calcification syndrome Hematohidrosis autosomal dominant intellectual disability 30 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities intellectual disability, autosomal dominant type 30 intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in zmynd11 mrd30 zmynd11 intellectual disability-expressive aphasia-facial dysmorphism syndrome Intellectual disability, autosomal dominant 30 AFM Acute flaccid myelitis distal myopathy, udd type distal titinopathy finnish tibial muscular dystrophy tardive tibial muscular dystrophy udd distal myopathy udd myopathy udd type distal myopathy Tibial muscular dystrophy hereditary papillary renal cell cancer hprcc renal cell carcinoma, papillary renal cell carcinoma, papillary, 1, familial and somatic Hereditary papillary renal cell carcinoma dermatitis exfoliativa neonatorum generalised exfoliative disease generalized exfoliative disease pemphigus neonatorum ritter disease ritter's disease scalded skin syndrome ssss ssss - staphylococcal scalded skin syndrome toxic epidermal necrolysis, subcorneal type Staphylococcal scalded skin syndrome chondrodysplasia punctata, autosomal recessive type chondrodysplasia punctata, rhizomelic form chondrodysplasia punctata, rhizomelic type rcdp rcdp - rhizomelic chondrodysplasia punctata rhizomelic chondrodysplasia punctata syndrome rhizomelic dwarfism Rhizomelic chondrodysplasia punctata Familial isolated trichomegaly Corticobasal syndrome carbohydrate sulfotransferase 3 related skeletal dysplasia chondrodysplasia with congenital joint dislocations, chst3 type chondrodysplasia with multiple dislocations chst3-related skeletal dysplasia humero-spinal dysostosis humero-spinal dysostosis with congenital heart disease humerospinal dysostosis kozlowski celermajer tink syndrome omani type sdcd, chst3 type spondyloepiphyseal dysplasia with congenital joint dyslocations chst3 type spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type Spondyloepiphyseal dysplasia with congenital joint dislocations brachyolmia hobaek/toledo type brachyolmia, autosomal recessive brachyolmia, hobaek/toledo type Autosomal recessive brachyolmia carcinoma of renal medulla renal medulla carcinoma Kidney medullary carcinoma deficiency of s-adenosylhomocysteine hydrolase hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency s-adenosylhomocysteine hydrolase deficiency Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase autosomal dominant intellectual disability 43 autosomal dominant non-syndromic intellectual disability caused by mutation in hivep2 hivep2 autosomal dominant non-syndromic intellectual disability intellectual developmental disorder, autosomal dominant 43 intellectual disability, autosomal dominant type 43 mrd43 Intellectual disability, autosomal dominant 43 diffuse xanthoma disseminated xanthosiderohistiocytosis montgomery syndrome Xanthoma disseminatum chromoblastomycosis mossy foot disease Chromomycosis chd2-related neurodevelopmental disorders childhood onset epileptic encephalopathy dee94 eeoc Developmental and epileptic encephalopathy 94 aipds aipdsb autoinflammation, panniculitis and dermatosis syndrome infantile-onset periodic fever, panniculitis, dermatosis syndrome infantile-onset periodic fever-panniculitis-dermatosis syndrome oras otu deubiquitinase with linear linkage specificity related autoinflammatory syndrome otulin (otu deubiquitinase with linear linkage specificity) related autoinflammatory syndrome otulin deficiency Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive CLWM Cystic leukoencephalopathy without megalencephaly primary localised cutaneous amyloidosis Primary cutaneous amyloidosis Ring 1 Ring chromosome type 1 r(1) syndrome Ring chromosome 1 mitochondrial dna depletion syndrome 8a encephalomyopathic type with renal tubulopathy mitochondrial dna depletion syndrome caused by mutation in rrm2b mitochondrial dna depletion syndrome type 8a mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy ribonucleotide reductase regulatory tp53 inducible subunit m2b-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy rrm2b mitochondrial dna depletion syndrome rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondrial DNA depletion syndrome 8a CA-VA deficiency Hyperammonemic encephalopathy due to carbonic anhydrase va deficiency 3-hydroxyisobutryl-coa hydrolase deficiency beta-hydroxyisobutyryl-coenzyme a deacylase deficiency deficiency of 3-hydroxyisobutyryl coa hydrolase deficiency of 3-hydroxyisobutyryl coenzyme a hydrolase hibch deficiency methacrylic aciduria neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency reduced circulating 3-hydroxyisobutyryl-coa hydrolase activity 3-hydroxyisobutyryl-coa hydrolase deficiency 2q32-q33 microdeletion syndrome 2q33.1 deletion syndrome glass syndrome monosomy 2q32-q33 Chromosome 2q32-q33 deletion syndrome PSIS ectopic neurohypophysis hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary Pituitary stalk interruption syndrome cancer starting in small tubes in kidneys hypernephroma rcc renal carcinoma renal cell carcinoma (disease) renal cell carcinoma - morphology Renal cell carcinoma POIKTMP syndrome Hereditary sclerosing poikiloderma with tendon and pulmonary involvement common syndrome tpds1 tumor predisposition syndrome 1 tumor susceptibility linked to germline bap1 mutations tumour susceptibility linked to germline bap1 mutations BAP1-related tumor predisposition syndrome Ring chromosome type 10 Ring chromosome 10 GLDN lethal congenital contracture syndrome LCCS11 lethal congenital contracture syndrome 11 lethal congenital contracture syndrome caused by mutation in GLDN lethal congenital contracture syndrome type 11 Lethal congenital contracture syndrome 11 bicd2-related autosomal dominant childhood-onset proximal spinal muscular atrophy bicd2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures smaled2 smaled2a spinal muscular atrophy, lower extremity-predominant, 2a, autosomal dominant spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures digeorge syndrome 2 digeorge syndrome/velocardiofacial syndrome complex 2 distal 10p deletion distal monosomy type 10p telomeric deletion 10p velocardiofacial syndrome 2 Distal monosomy 10p adane encephalopathy, acute, infection-induced, 3, susceptibility to encephalopathy, acute, infection-induced, susceptibility to, type 3 recurrent acute necrotizing encephalopathy susceptibility to acute necrotizing encephalopathy 1 Familial acute necrotizing encephalopathy acute necrotizing viral encephalitis Acute necrotizing encephalitis RARB syndromic microphthalmia microphthalmia, syndromic type 12 syndromic microphthalmia caused by mutation in RARB Microphthalmia, syndromic 12 lymphoma of marginal zone b cell marginal zone b cell lymphoma mzbcl mzl Marginal zone lymphoma cabezas syndrome intellectual developmental disorder, x-linked syndromic, cabezas type intellectual disability, x-linked, syndromic 15 (cabezas type) intellectual disability, x-linked, with short stature mental retardation, x-linked, syndromic 15 (cabezas type), x-linked recessive mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor mrss mrxs15 mrxsc syndromic x-linked intellectual disability 15 syndromic x-linked intellectual disability cabezas type x-linked intellectual disability cabezas type x-linked intellectual disability with short stature x-linked intellectual disability with short stature, hypogonadism, and abnormal gait X-linked intellectual disability, Cabezas type Ring chromosome type 12 Ring chromosome 12 idiopathic hypertrophic pachymeningitis immunoglobulin g4 related pachymeningitis IgG4-related pachymeningitis Bainbridge-Ropers syndrome asxl3-related disorder bainbridge ropers syndrome severe feeding difficulties, failure to thrive, microcephaly due to asxl transcriptional regulator 3 deficiency syndrome severe feeding difficulties, failure to thrive, microcephaly due to asxl3 deficiency syndrome Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome infantile cerebellar and retinal degeneration Infantile cerebellar-retinal degeneration mosaic trisomy 14 syndrome mosaic trisomy type 14 Mosaic trisomy 14 deficiency of phosphoserine aminotransferase phosphoserine aminotransferase deficiency phosphoserine aminotransferase deficiency, infantile/juvenile form psat deficiency, infantile/juvenile form Psat deficiency ring chromosome type 15 Ring chromosome 15 bdplt11 bleeding disorder due to glycoprotein vi deficiency bleeding disorder platelet-type 11 glycoprotein vi deficiency gp vi deficiency gp6 inherited bleeding disorder, platelet-type inherited bleeding disorder, platelet-type caused by mutation in gp6 Platelet-type bleeding disorder 11 ankyrin-b syndrome cardiac arrhythmia ankyrin-b related Cardiac arrhythmia, ankyrin-b-related epilepsy, familial focal, with variable foci familial partial epilepsy with variable foci ffevf ffevf - familial focal epilepsy with variable foci fpevf Familial focal epilepsy with variable foci 17q12 duplication syndrome 17q12 microduplication syndrome 17q12 recurrent microduplication dup(17)(q12) trisomy 17q12 Chromosome 17q12 duplication syndrome 17q12 microdeletion syndrome 17q12 recurrent microdeletion syndrome del(17)(q12) monosomy 17q12 Chromosome 17q12 deletion syndrome f-box and leucine rich repeat protein 4 related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form fbxl4 (f-box and leucine rich repeat protein 4) related early onset mitochondrial encephalopathy fbxl4 mitochondrial dna depletion syndrome fbxl4-related early onset mitochondrial encephalopathy mitochondrial dna depletion syndrome 13 encephalomyopathic type mitochondrial dna depletion syndrome caused by mutation in fbxl4 mitochondrial dna depletion syndrome type 13 mtdna depletion syndrome, encephalomyopathic form with variable craniofacial anomalies Mitochondrial DNA depletion syndrome 13 arthrogryposis, distal, with hypopituitarism, intellectual disability, and facial anomalies mage family member l2-related prader-willi-like syndrome magel2-related prader-willi-like syndrome magel2-related pwls schaaf yang syndrome shfyng Schaaf-yang syndrome DEE12 EIEE12 PLCB1 early infantile epileptic encephalopathy developmental and epileptic encephalopathy 12 early infantile epileptic encephalopathy 12 early infantile epileptic encephalopathy caused by mutation in PLCB1 epileptic encephalopathy, early infantile, 12 epileptic encephalopathy, early infantile, type 12 Developmental and epileptic encephalopathy, 12 far1 deficiency fatty acyl-coa reductase 1 disorder fatty acyl-coa reductase 1 disorder or fatty acyl-coa reductase 1 deficiency fatty acyl-coenzyme a reductase 1 deficiency pfcrd - peroxisomal fatty acyl-coa reductase 1 disorder rhizomelic chondrodysplasia punctata type 4 severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-coa reductase 1 deficiency severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder Fatty acyl-coa reductase 1 deficiency Ring chromosome type 19 Ring chromosome 19 Familial reactive perforating collagenosis lipoid histiocytosis lipoid histiocytosis (classical phosphatide) neuronal cholesterol lipidosis niemann-pick disease with cholesterol esterification block niemann-pick disease, subacute juvenile form sphingomyelin lipidosis sphingomyelinase deficiency sphingomyelinase deficiency disease Sphingomyelin/cholesterol lipidosis b-cell expansion with nf-kb and t-cell anergy disease b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy disease benta (b-cell expansion with nuclear factor kappa light chain enhancer of activated b cells and t-cell anergy) disease BENTA disease ring chromosome 20 ring chromosome type 20 Ring chromosome 20 syndrome Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ectasic coloboma morning glory anomaly morning glory disc anomaly morning glory disk anomaly morning glory optic disc volubilis syndrome Morning glory syndrome r(22) syndrome ring chromosome type 22 Ring chromosome 22 ELP2 autosomal recessive non-syndromic intellectual disability MRT58 autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2 intellectual developmental disorder, autosomal recessive 58 intellectual disability, autosomal recessive type 58 Intellectual disability, autosomal recessive 58 magic (mouth and genital ulcers inflamed cartilage) syndrome mouth and genital ulcers with inflamed cartilage mouth and genital ulcers with inflamed cartilage syndrome mouth and genital ulcers-inflamed cartilage syndrome Magic syndrome col9a1 multiple epiphyseal dysplasia (disease) col9a1-related multiple epiphyseal dysplasia epiphyseal dysplasia, multiple, type 6 multiple epiphyseal dysplasia (disease) caused by mutation in col9a1 Epiphyseal dysplasia, multiple, 6 dee17 developmental and epileptic encephalopathy 17 early infantile epileptic encephalopathy 17 early infantile epileptic encephalopathy caused by mutation in gnao1 early infantile epileptic encephalopathy-17 eiee17 epileptic encephalopathy, early infantile, 17 epileptic encephalopathy, early infantile, type 17 gnao1 early infantile epileptic encephalopathy Developmental and epileptic encephalopathy, 17 autosomal dominant intellectual disability 29 intellectual developmental disorder, autosomal dominant 29 intellectual disability, autosomal dominant type 29 intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in setbp1 mrd29 setbp1 haploinsufficiency disorder setbp1 intellectual disability-expressive aphasia-facial dysmorphism syndrome Intellectual disability, autosomal dominant 29 combined oxidative phosphorylation defect type 12 combined oxidative phosphorylation deficiency caused by mutation in ears2 combined oxidative phosphorylation deficiency type 12 coxpd12 coxpd12 - combined oxidative phosphorylation defect type 12 ears2 combined oxidative phosphorylation deficiency leukoencephalopathy, thalamus and brainstem anomalies, high lactate syndrome ltbl Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome beradinelli-seip syndrome berardinelli lipodystrophy syndrome berardinelli seip syndrome berardinelli-seip syndrome brunzell syndrome bscl cgl gcl generalised congenital lipodystrophy generalized congenital lipodystrophy seip-bernardinelli syndrome total lipodystrophy Berardinelli-Seip congenital lipodystrophy BSCL3 Berardinelli-Seip congenital lipodystrophy type 3 CAV1 congenital generalised lipodystrophy (disease) CAV1 congenital generalized lipodystrophy (disease) CGL3 congenital generalised lipodystrophy (disease) caused by mutation in CAV1 congenital generalized lipodystrophy (disease) caused by mutation in CAV1 Congenital generalized lipodystrophy type 3 r(4) syndrome ring chromosome 4 ring chromosome type 4 rose cluster 4 syndrome r(4) Ring chromosome 4 syndrome del(12)(q14) deletion 12q14 monosomy 12q14 osteopoikilosis with short stature and intellectual disability syndrome osteopoikilosis-short stature-intellectual disability syndrome 12q14 microdeletion syndrome 2p15-16.1 microdeletion syndrome 2p15-p16.1 microdeletion syndrome 2p15p16.1 microdeletion syndrome 2p16.1-p15 deletion syndrome chromosome 2p16.1-p15 deletion syndrome, isolated cases del(2)(p15p16.1) monosomy 2p15-p16.1 monosomy 2p15p16.1 Chromosome 2p16.1-p15 deletion syndrome semd - spondyloepimetaphyseal dysplasia, strudwick type Spondyloepimetaphyseal dysplasia, strudwick type 4q partial monosomy syndrome chromosome 4q deletion syndrome partial deletion of chromosome 4q partial deletion of the long arm of chromosome type 4 partial monosomy of chromosome 4q partial monosomy of the long arm of chromosome 4 Partial deletion of the long arm of chromosome 4 limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies Limbic encephalitis with LGI1 antibodies ahdc1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome at-hook dna binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome autosomal dominant intellectual disability 25 mrd25 xia gibbs syndrome AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to h1-4 mutation autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to h1.4 linker histone, cluster member mutation autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to h1-4 mutation h1-4-related neurodevelopmental disorder Rahman syndrome mecrcn metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome tango2 deficiency tango2 deficiency disorder tango2-related metabolic encephalopathy, arrhythmia syndrome tango2-related metabolic encephalopathy-arrhythmia syndrome transport and golgi organisation protein 2 (tango2) deficiency transport and golgi organization 2 homolog-related metabolic encephalopathy, arrhythmia syndrome transport and golgi organization protein 2 (tango2) deficiency Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome asct1 deficiency spastic quadriplegia, thin corpus callosum, progressive postnatal microcephaly syndrome spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome maternal uniparental disomy, chromosome 14 maternal upd14 Motor developmental delay due to 14q32.2 paternally expressed gene defect MRXSB intellectual developmental disorder, X-linked, syndromic, Bain type, X-linked dominant Intellectual disability, X-linked, syndromic, Bain type plasma cell tumor plasmacytoma - disorder Plasmacytoma papular epidermal nevi with skyline basal cell layers syndrome pens (papular epidermal nevi with skyline basal cell layers) syndrome PENS syndrome Ring chromosome type 7 rose cluster 7 Ring chromosome 7 Kaposiform lymphangiomatosis partial deletion of chromosome 7p partial deletion of the short arm of chromosome type 7 partial monosomy of chromosome 7p partial monosomy of the short arm of chromosome 7 Partial deletion of the short arm of chromosome 7 adtkd-ren adtkd4 autosomal dominant tubulointerstitial kidney disease due to mutations in ren familial juvenile hyperuricemic nephropathy caused by mutation in ren fjhn type 2 hyperuricemic nephropathy, familial juvenile, type 2 ren familial juvenile hyperuricemic nephropathy ren-associated familial juvenile hyperuricemic nephropathy ren-associated fjhn ren-associated kidney disease tubulointerstitial kidney disease, autosomal dominant, 4 Familial juvenile hyperuricemic nephropathy type 2 chromosome 8 derived supernumerary ring r(8) syndrome ring 8 ring chromosome 8 rose cluster 8 supernumerary ring/marker 8 Chromosome 8-derived supernumerary ring/marker ferritin heavy chain 1-related iron overload fth1 (ferritin heavy chain 1) related iron overload fth1 hereditary hemochromatosis fth1-associated iron overload fth1-related iron overload hereditary hemochromatosis caused by mutation in fth1 hfe5 Hemochromatosis type 5 nedhels neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures Intellectual disability-epilepsy-extrapyramidal syndrome ring 9 ring chromosome type 9 Ring chromosome 9 autosomal recessive childhood-onset dystonia dyt29 type autosomal recessive childhood-onset dystonia, dyt29 type childhood-onset generalized dystonia, optic atrophy syndrome childhood-onset generalized dystonia-optic atrophy syndrome dystonia 29 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities dyt29 dyt29 - dystonia 29 dytoabg mepan syndrome mitochondrial enoyl coa reductase protein-associated neurodegeneration syndrome mitochondrial enoyl coenzyme a reductase protein-associated neurodegeneration syndrome Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome tokims tokita-kim syndrome zhu tokita takenouchi kim syndrome Zttk syndrome dync1h1-related autosomal dominant childhood-onset proximal spinal muscular atrophy dync1h1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures smaled1 spinal muscular atrophy, lower extremity-predominant 1, ad Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures autosomal dominant intellectual disability 7 dual specificity tyrosine phosphorylation regulated kinase 1a-related intellectual disability syndrome dyrk1a (dual specificity tyrosine phosphorylation regulated kinase 1a)-related intellectual disability syndrome dyrk1a syndrome intellectual developmental disorder, autosomal dominant 7 intellectual disability, autosomal dominant type 7 mrd7 DYRK1A-related intellectual disability syndrome autosomal dominant intellectual disability 40 autosomal dominant non-syndromic intellectual disability caused by mutation in champ1 champ1 autosomal dominant non-syndromic intellectual disability intellectual disability, autosomal dominant type 40 mrd40 nedhild neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features Intellectual disability, autosomal dominant 40 chronic infantile neurological cutaneous articular syndrome chronic neurologic cutaneous and articular syndrome cinca - chronic infantile neurological, cutaneous and articular syndrome cinca/nomid infantile-onset multisystem inflammatory disease iomid syndrome nomid nomid - neonatal onset multisystem inflammatory disease nomid syndrome prieur-griscelli syndrome Chronic infantile neurological, cutaneous and articular syndrome cid due to lrba deficiency combined immunodeficiency due to lipopolysaccharide-responsive beige-like anchor protein deficiency common variable immunodeficiency 8, with autoimmunity Combined immunodeficiency due to lrba deficiency autosomal recessive spastic paraplegia 49 autosomal recessive spastic paraplegia type 49 hereditary sensory and autonomic neuropathy due to tecpr2 mutation hereditary spastic paraplegia caused by mutation in tecpr2 hereditary spastic paraplegia type 49 hsan due to tecpr2 mutation hsan9 neuropathy, hereditary sensory and autonomic, type ix, with developmental delay spg49 tecpr2 hereditary spastic paraplegia Hereditary spastic paraplegia 49 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency chudley-rozdilsky syndrome intellectual disability, myopathy, short stature, endocrine defect syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome cid due to rag 1/2 deficiency combined immunodeficiency due to rag 1/2 deficiency combined immunodeficiency with granulomatosis Combined immunodeficiency with skin granulomas Pontiac fever chyloperitoneum Chylous ascites chronic othostatic intolerance familial orthostatic tachycardia due to norepinephrine transporter deficiency irritable heart orhtostatic intolerance orthostatic intolerance due to net deficiency postural orthostatic tachycardia syndrome due to net deficiency postural tachycardia syndrome postural tachycardia syndrome due to net deficiency pots pots - postural orthostatic tachycardia syndrome pots - postural tachycardia syndrome pots due to net deficiency Postural orthostatic tachycardia syndrome neutropenia, severe congenital scn severe chronic neutropenia severe infantile genetic neutropenia Severe congenital neutropenia dnt of the cerebellum dysembryoplastic neuroepithelial tumor of cerebellum dysembryoplastic neuroepithelial tumour of cerebellum rgnt rosette-forming glioneuronal neoplasm rosette-forming glioneuronal tumor of fourth ventricule rosette-forming glioneuronal tumor of the fourth ventricle rosette-forming glioneuronal tumour rosette-forming glioneuronal tumour of the fourth ventricle Rosette-forming glioneuronal tumor brain monoamine vesicular transport disease parkinsonism-dystonia 2, infantile-onset parkinsonism-dystonia, infantile, 2 pkdys2 Brain dopamine-serotonin vesicular transport disease ciliary discoordination due to random ciliary orientation Rutland ciliary disorientation syndrome pustulosis subcornealis sneddon-wilkinson disease sneddon-wilkinson disease or syndrome sneddon-wilkinson syndrome subcorneal pustular dermatitis Subcorneal pustular dermatosis dhx30-related complex neurodevelopmental disorder neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome neurodevelopmental disorder with variable motor and language impairment Neurodevelopmental disorder with severe motor impairment and absent language Ciliary dyskinesia with transposition of ciliary microtubules Pneumonia caused by pseudomonas aeruginosa infection cad-cdg cad-cdg - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type iz cdg syndrome type iz cdg-iz cdg1z congenital disorder of glycosylation type 1z dee50 eiee50 epileptic encephalopathy, early infantile, 50 Developmental and epileptic encephalopathy, 50 Anaplastic pleomorphic xanthoastrocytoma anticonvulsant hypersensitivity syndrome dhs dress dress syndrome drug reaction eosinophilic systemic syndrome drug-induced hypersensitivity syndrome Drug rash with eosinophilia and systemic symptoms macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome minds (macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax) syndrome minds syndrome smith kingsmore syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome x-linked facial dysmorphism, short stature, choanal atresia, intellectual disability syndrome limited to females x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females x-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females x-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability classical galactosemia deficiency of galactose-1-phosphate uridyl transferase deficiency of hexose-1-phosphate uridylyltransferase deficiency of udpglucose-hexose-1-phosphate uridylyltransferase deficiency of uridine diphosphate-glucose-hexose-1-phosphate uridylyltransferase deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase deficiency of uridyl transferase deficiency of utp-hexose-1-phosphate uridylyltransferase galactose-1-phosphate uridyltransferase deficiency galactosemia i galactosemia type 1 transferase deficiency galactosemia utp-hexose-1-phosphate uridyltransferase deficiency Classic galactosemia familial brain cavernous angioma familial brain cavernous hemangioma familial cerebral cavernoma familial cerebral cavernous malformation hereditary brain cavernous angioma hereditary brain cavernous hemangioma hereditary cavernous hemangioma of brain hereditary cerebral cavernoma hereditary cerebral cavernous malformation Famililal cerebral cavernous malformations depletion of mitochondrial deoxyribonucleic acid depletion of mitochondrial dna mitochondrial dna depletion mtdna depletion syndrome Mitochondrial dna depletion syndrome dguok mitochondrial dna depletion syndrome dguok-related mitochondrial dna depletion syndrome, hepatocerebral form mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase deficiency mitochondrial dna depletion syndrome 3 mitochondrial dna depletion syndrome caused by mutation in dguok mitochondrial dna depletion syndrome type 3 Mitochondrial dna depletion syndrome 3 (hepatocerebral type) c2cd3 orofaciodigital syndrome microcephaly, cerebral malformation, orofaciodigital syndrome microcephaly-cerebral malformation-orofaciodigital syndrome ofd14 oral-facial-digital syndrome type 14 oro-facial digital syndrome type 14 orofaciodigital syndrome caused by mutation in c2cd3 Orofaciodigital syndrome type 14 UBTF-related disorder Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Classic multiminicore myopathy familial sinus node dysfunction hereditary sick sinus syndrome Familial sick sinus syndrome DYT-KMT2B early-onset, generalised dystonia with mild syndromic features early-onset, generalized dystonia with mild syndromic features Early-onset generalized dystonia dee18 early infantile epileptic encephalopathy without suppression burst epileptic encephalopathy, early infantile, 18 epileptic encephalopathy, early infantile, type 18 Developmental and epileptic encephalopathy, 18 dee64 developmental and epileptic encephalopathy 64 eiee64 epileptic encephalopathy, early infantile, 64 rhobtb2 syndrome rhobtb2-associated neurodevelopmental disorders Developmental and epileptic encephalopathy, 64 GRIN1 autosomal dominant non-syndromic intellectual disability MRD8 autosomal dominant intellectual disability 8 autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1 intellectual disability, autosomal dominant type 8 Intellectual disability, autosomal dominant 8 aplasia of tibia with split hand split foot deformity aplasia of tibia with split-hand/split-foot deformity shfld syndrome shfm associated with aplasia of long bones split hand foot malformation with long bone deficiency split hand/foot malformation with long bone deficiency split-hand/foot malformation associated with aplasia of long bones th-shfm tibial aplasia and ectrodactyly syndrome tibial hemimelia ectrodactyly syndrome tibial hemimelia with split hand/foot malformation tibial hemimelia-ectrodactyly syndrome Tibial aplasia-ectrodactyly syndrome Aughton sloan Milad syndrome Dandy-Walker malformation with nasopharyngeal teratoma and diaphragmatic hernia crosti's lymphoma pcfcl primary cutaneous follicle center cell lymphoma primary cutaneous follicular center b-cell lymphoma Primary cutaneous follicle center lymphoma WABS Warsaw breakage syndrome CID due to partial RAG1 deficiency CID with expansion of gamma delta T cells combined immunodeficiency with expansion of gamma delta T cells Combined immunodeficiency due to partial rag1 deficiency cll, t-cell prolymphocytic leukemia of t-cell type prolymphocytic leukemia, t-cell type t cell chronic lymphocytic leukaemia t cell chronic lymphocytic leukemia t cell cll t cell prolymphocytic leukaemia t prolymphocytic leukaemia t-cell chronic lymphocytic leukaemia t-cell chronic lymphocytic leukemia t-cell cll t-pll T-cell prolymphocytic leukemia AP4E1 hereditary spastic paraplegia CPSQ4 SPG51 Spastic Paraplegia 51 autosomal dominant spastic paraplegia 51 hereditary spastic paraplegia caused by mutation in AP4E1 hereditary spastic paraplegia type 51 spastic quadriplegic cerebral palsy 4 Hereditary spastic paraplegia 51 al-aqeel sewairi syndrome mona mona, mmp2-related multicentric osteolysis, nodulosis and arthropathy, mmp2-related osteolysis, hereditary multicentric torg syndrome winchester-torg syndrome Multicentric osteolysis, nodulosis, and arthropathy autosomal dominant intellectual disability 37 intellectual disability, autosomal dominant type 37 mrd37 white sutton syndrome whsus Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 5-amino-4-imidazole carboxamide ribosiduria aica (5-amino-4-imidazole carboxamide) ribosiduria aica-ribosiduria due to atic deficiency atic (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency AICA-ribosiduria fundus albipunctatus prph2-related fundus albipunctatus rdh5-related fundus albipunctatus rlbp1-related fundus albipunctatus Pigmentary retinal dystrophy malns Malan overgrowth syndrome Nephrotic syndrome 14 SPLIS familial steroid-resistant nephrotic syndrome with adrenal insufficiency nephrotic syndrome, type 14 primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency renal, endocrine, neurologic and immune syndrome renal, endocrine, neurologic, and immune syndrome reni syndrome sgpl1 deficiency, steroid-resistant nephrotic syndrome type 14 sphingosine phosphate lyase insufficiency syndrome splis Sphingosine phosphate lyase insufficiency syndrome aldd aldd syndrome autoinflammation, lipodystrophy and dermatosis syndrome autoinflammation, lipodystrophy, and dermatosis syndrome autoinflammation-lipodystrophy-dermatosis syndrome candle syndrome chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome japanese autoinflammatory syndrome with lipodystrophy jmp syndrome joint contractures - muscle atrophy - microcytic anaemia - panniculitis-induced lipodystrophy joint contractures - muscle atrophy - microcytic anemia - panniculitis-induced lipodystrophy joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome nakajo nishimura syndrome nakajo syndrome nakajo-nishimura syndrome nns praas proteasome disability syndrome proteasome-associated autoinflammatory syndrome secondary hypertrophic osteoperiostosis with pernio Proteosome-associated autoinflammatory syndrome Familial atrial myxoma cpls - cleft palate-lateral synechia syndrome Cleft palate-lateral synechia syndrome cleft palate with short stature and vertebral anomaly syndrome mathieu de broca bony syndrome mathieu-de broca-bony syndrome Cleft palate-short stature-vertebral anomalies syndrome Cleft palate-stapes fixation-oligodontia syndrome X-linked cleft palate and ankyloglossia cleft palate with ankyloglossia Cleft palate with or without ankyloglossia, x-linked apple peel syndrome congenital atresia of small intestine intestinal atresia type iiib jejunal atresia jejunoileal atresia small intestinal atresia Atresia of small intestine cloverleaf skull-micromelic bone dysplasia syndrome td2 thanatophoric dwarfism type 2 thanatophoric dwarfism-cloverleaf skull syndrome thanatophoric dysplasia type 2 Thanatophoric dysplasia, type 2 cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis coach (cerebellar vermis hypoplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis) syndrome coach1 gentile syndrome joubert syndrome with congenital hepatic fibrosis joubert syndrome with hepatic defect js-h COACH syndrome classical cockayne syndrome cockayne syndrome type 1 cockayne syndrome type i cockayne syndrome a cockayne syndrome caused by mutation in ercc8 cockayne syndrome type i cockayne syndrome, type a ercc8 cockayne syndrome ercc8-related cockayne syndrome Cockayne syndrome type 1 Cockayne syndrome type III Cockayne syndrome type 3 cerebrooculodentoauriculoskeletal syndrome codas (cerebro-oculo-dento-auriculo-skeletal) syndrome Codas syndrome cockayne syndrome type 2 cockayne syndrome b cockayne syndrome type ii cockayne syndrome, type b cockayne syndrome, type ii early onset cockayne syndrome ercc6-related cockayne syndrome Cockayne syndrome type 2 cogan's syndrome diffuse interstitual keratitis oculovestibuloauditory syndrome Cogan syndrome bone fragility, craniosynostosis, proptosis, hydrocephalus syndrome bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome cole-carpenter dysplasia Cole-Carpenter syndrome Collins-Pope syndrome Dislocation of the hip-dysmorphism syndrome elbow hypertrichosis hairy elbow hairy elbow syndrome hairy elbows hairy elbows syndrome macdermot-patton-williams syndrome pilosity of elbow Hypertrichosis cubiti-short stature syndrome coloboma of eye lens coloboma of lens Lens coloboma cat eye coloboma of iris coloboma of iris (disease) keyhole iris Iris coloboma coloboma of the macula congenital coloboma of macula lutea Coloboma of macula coloboma of macula with brachydactyly type b syndrome sorsby syndrome Coloboma of macula-brachydactyly type b syndrome coloboma of optic nerve (disease) coloboma of optic papilla congenital coloboma of optic disc congenital optic disc coloboma optic disc coloboma optic nerve coloboma Coloboma of optic nerve macdermot winter syndrome macdermot-winter syndrome prominent glabella with microcephaly and hypogenitalism syndrome Prominent glabella-microcephaly-hypogenitalism syndrome coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development Uveal coloboma-cleft lip and palate-intellectual disability aeg - anophthalmia-esophageal-genital syndrome mcops3 microphthalmia, syndromic type 3 sox2-related eye disorder syndromic microphthalmia 3 syndromic microphthalmia type 3 Anophthalmia/microphthalmia-esophageal atresia syndrome atresia of the large intestine colonic atresia colonic atresia (disease) large intestinal atresia Congenital atresia of colon c2 complement deficiency complement component c2 deficiency complement deficiency caused by mutation in c2 Complement component 2 deficiency atrioventricular canal type ventricular septal defect cavc common atrioventricular canal complete atrioventricular canal defect complete atrioventricular septal defect complete atrioventricular septal defect with atrial and ventricular components complete avsd complete common av canal endocardial cushion defect, complete type Complete atrioventricular canal Mengel-Konigsmark syndrome conductive hearing loss-malformed external ear syndrome Conductive deafness-malformed external ear syndrome COD2 CORDX2 X-linked cone dystrophy 2 X-linked cone-rod dystrophy type 2 cone dystrophy 2, X-linked cone dystrophy X-linked 2 cone dystrophy, progressive X-linked, 2 cone-rod dystrophy X-linked 2 cone-rod dystrophy, X-linked, 2 X-linked cone-rod dystrophy 2 amelogenesis imperfecta co-occurrent with cone rod dystrophy cone rod dystrophy-amelogenesis imperfecta syndrome Jalili syndrome 20,22-desmolase deficiency adrenal hyperplasia i cholesterol desmolase deficiency cholesterol desmolase-deficient congenital adrenal hyperplasia cholesterol monooxygenase (side-chain cleaving) deficiency clah congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism defective synthesis of cholesterol desmolase lipoid adrenal hyperplasia Congenital lipoid adrenal hyperplasia due to star deficency cah cah - congenital adrenal hyperplasia congenital adrenogenital syndrome Congenital adrenal hyperplasia 17 alpha-hydroxylase deficiency 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia 17-alpha-hydroxylase/17,20-lyase deficiency adrenal hyperplasia v adrenogenital disorder due to 17-alpha-hydroxylase deficiency cah - 17-alpha-hydroxysteroid dehydrogenase deficiency cah - 17-hydroxylase deficiency cah due to 17-alpha-hydroxylase deficiency combined 17-hydroxylase/17,20-lyase deficiency congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia, type 5 deficiency of steroid 17-alpha-hydroxylase steroid 17-alpha-monooxygenase deficiency Deficiency of steroid 17-alpha-monooxygenase autosomal dominant benign distal spinal muscular atrophy autosomal dominant congenital benign spinal muscular atrophy congenital benign spinal muscular atrophy with contracture congenital benign spinal muscular atrophy with contractures congenital nonprogressive spinal muscular atrophy neuropathy, distal hereditary motor, type viii Neuronopathy, distal hereditary motor, autosomal dominant 8 congenital respiratory-biliary fistula Congenital bronchobiliary fistula antenatal cmv infection antenatal cytomegalovirus infection congenital cytomegaloviral infection foetal cytomegalovirus syndrome mother-to-child transmission of cytomegalovirus syndrome Fetal cytomegalovirus syndrome cdh cdh - congenital diaphragmatic hernia dih Congenital diaphragmatic hernia congenital iodine deficiency syndrome hypothyroidism, congenital underactive thyroid gland from birth Congenital hypothyroidism congenital ichthyosis, microcephalus, quadriplegia syndrome congenital ichthyosis, microcephalus, tetraplegia syndrome congenital ichthyosis-microcephalus-quadriplegia syndrome Congenital ichthyosis-microcephalus-tetraplegia syndrome CMn stromal nephroma, malignant Congenital mesoblastic nephroma congenital mitral stenosis (disease) congenital mitral valve stenosis congenital stenosis of mitral valve duroziez's disease hereditary mitral valve stenosis ms - congenital mitral stenosis Congenital mitral stenosis cnf - finnish congenital nephrotic syndrome congenital finnish nephrosis congenital nephrotic syndrome - finnish type finnish congenital nephrosis finnish congenital nephrotic syndrome Congenital nephrotic syndrome, finnish type deoxyribonucleic acid ligase iv deficiency dna (deoxyribonucleic acid) ligase iv deficiency lig4 (ligase 4) syndrome ligase 4 syndrome DNA ligase IV deficiency immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction FADD-related immunodeficiency OPTB autosomal recessive malignant osteopetrosis autosomal recessive osteopetrosis (disease) infantile malignant osteopetrosis osteopetrosis (disease), autosomal recessive Autosomal recessive osteopetrosis craniometadiaphyseal dysplasia Craniometaphyseal dysplasia achm achromatism complete or incomplete color blindness complete or incomplete colour blindness monochromatism pingelapese blindness rod monochromacy rod monochromatism total color blindness total colour blindness Achromatopsia keratosis palmoplantaris striata keratosis palmoplantaris striata et areata keratosis palmoplantaris varians of Wachters Striate palmoplantar keratoderma acquired short bowel syndrome post-resection short bowel syndrome sbs - short bowel syndrome sgs - short gut syndrome short gut syndrome short intestine syndrome Short bowel syndrome deficient secretion of all pituitary hormones genetic panhypopituitarism non-acquired panhypopituitarism primary hypopituitarism simmond's disease simmonds' disease Panhypopituitarism angioma serpiginosum of skin Angioma serpiginosum Multiple epiphyseal dysplasia due to collagen 9 anomaly classical complement pathway abnormality immunodeficiency due to a c1, c4, or c2 component complement deficiency immunodeficiency due to an early component of complement deficiency immunodeficiency due to c1, c4, or c2 component complement deficiency Immunodeficiency due to a classical component pathway complement deficiency non-specific early-onset epileptic encephalopathy non-specific eoee undetermined eoee Undetermined early-onset epileptic encephalopathy congenital hypoplasia of femur congenital short femur femoral agenesis/hypoplasia femoral hypoplasia femoral intercalary meromelia hypoplasia of the femora short femurs short thighbone Short femur benign neonatal epilepsy 2 benign neonatal seizures caused by mutation in kcnq3 kcnq3 benign neonatal seizures kcnq3-related benign familial neonatal epilepsy seizures, benign familial neonatal, type 2 seizures, benign neonatal, 2 Seizures, benign familial neonatal, 2 adcl1 autosomal dominant cutis laxa caused by mutation in eln cutis laxa, autosomal dominant type 1 eln autosomal dominant cutis laxa eln-related cutis laxa Cutis laxa, autosomal dominant 1 arid1b-related bafopathy arid1b-related coffin-siris syndrome css1 hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features intellectual disability, autosomal dominant 12 mrd12 Coffin-siris syndrome 1 hereditary sensory and autonomic neuropathy type 1 caused by mutation in sptlc1 hereditary sensory and autonomic neuropathy type ia hereditary sensory autonomic neuropathy type ia hereditary sensory neuropathy type ia hsan ia hsan1a hsn ia sptlc1 hereditary sensory and autonomic neuropathy type 1 Neuropathy, hereditary sensory and autonomic, type 1A continuous muscle fiber activity hereditary continuous muscle fiber activity, hereditary continuous muscle fibre activity hereditary continuous muscle fibre activity, hereditary Hereditary continuous muscle fiber activity continuous slow spike and wave of sleep continuous spike and waves during slow-wave sleep syndrome continuous spike-wave during slow sleep syndrome continuous spike-wave in sleep continuous spikes and waves during slow-wave sleep csws cswss syndrome ee-swas eeswas electrical status epilepticus of sleep electrographic status epilepticus in sleep electrographic status epilepticus of sleep epileptic aphasia epileptic encephalopathy with continuous spike-and-wave during slow sleep epileptic encephalopathy with spike and wave activation in sleep epileptic encephalopathy with spike-and-wave activation in sleep eses index eses with language regression lk syndrome lks Continuous spikes and waves during sleep Ladda-Zonana-Ramer syndrome Contractures-ectodermal dysplasia-cleft lip/palate syndrome fetal hypokinesia sequence due to restrictive dermopathy infantile restrictive dermopathy lethal hyperkeratosis-contracture syndrome lethal restrictive dermopathy lethal tight skin-contracture syndrome restrictive dermopathy restrictive dermopathy, lethal tight skin contracture syndrome Lethal tight skin contracture syndrome autosomal dominant form of benign neonatal seizures benign familal neonatal seizures benign familial convulsion benign familial convulsions benign familial neonatal convulsions benign familial neonatal epilepsy benign familial neonatal seizures benign neonatal convulsions benign neonatal familial convulsions bfns convulsions benign familial neonatal dominant form familial neonatal seizures seizures, benign familial neonatal self-limited familial neonatal epilepsy selfne - self-limited familial neonatal epilepsy Benign neonatal seizures congenital hypocupremia kinky hair disease md menke's kinky hair syndrome menkes disease, x-linked recessive menkes kinky hair disease menkes kinky-hair syndrome menkes syndrome mk mk - menkes syndrome mnk mnk - menkes syndrome steely hair disease steely hair syndrome trichopoliodystrophy x-linked copper deficiency Menkes disease Familial benign copper deficiency combined pituitary hormone deficiencies, genetic form caused by mutation in prop1 pituitary dwarfism iii pituitary hormone deficiency, combined, type 2 prop1 combined pituitary hormone deficiencies, genetic form prop1-related combined pituitary hormone deficiency Pituitary hormone deficiency, combined, 2 der kaloustian-jarudi-khoury syndrome spinocerebellar degeneration and corneal dystrophy syndrome spinocerebellar degeneration-corneal dystrophy syndrome Corneal-cerebellar syndrome cholestasis, progressive familial intrahepatic fatal intrahepatic cholestasis pfic pfic - progressive familial intrahepatic cholestasis progressive family intrahepatic cholestasis progressive intrahepatic cholestasis Progressive familial intrahepatic cholestasis xq28 duplication syndrome, int22h1/int22h2-mediated xq28 recurrent microduplication syndrome Chromosome xq28 duplication syndrome cdpd congenital hereditary endothelial dystrophy and perceptive deafness syndrome corneal dystrophy and perceptive deafness syndrome corneal dystrophy with progressive deafness corneal dystrophy with progressive hearing loss corneal dystrophy-perceptive hearing loss syndrome corneal endothelial dystrophy and perceptive deafness harboyan syndrome Corneal dystrophy-perceptive deafness syndrome corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth corneo-dermato-osseous syndrome Stern-Lubinsky-Durrie syndrome Coronal synostosis, syndactyly and jejunal atresia amyotrophic lateral sclerosis 17 amyotrophic lateral sclerosis caused by mutation in chmp2b amyotrophic lateral sclerosis, chmp2b-related chmp2b amyotrophic lateral sclerosis chmp2b-related amyotrophic lateral sclerosis chmp2b-related frontotemporal dementia chromosome 3-linked frontotemporal dementia frontotemporal dementia with gene located on 3p11 frontotemporal dementia, chromosome 3-linked ftd3 ftdals7 Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 familial platelet disorder with propensity to acute myelogenous leukemia familial platelet syndrome with predisposition to acute myelogenous leukaemia familial platelet syndrome with predisposition to acute myelogenous leukemia fpd/aml syndrome fps/aml syndrome Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 coronaro-cardiac fistula coronary arterial fistula coronary arterial fistulas coronary arterial malformations coronary fistula Coronary artery fistula microcephaly 2, primary, autosomal recessive, with cortical malformations Microcephaly 2, primary, autosomal recessive, with or without cortical malformations Andermann syndrome Charlevoix disease corpus callosum agenesis-neuronopathy syndrome hereditary motor and sensory neuropathy with agenesis of the corpus callosum peripheral neuropathy associated with agenesis of the corpus callosum Agenesis of the corpus callosum with peripheral neuropathy ANGPTL3 hypobetalipoproteinemia FHBL2 combined familial hypolipidemia familial hypobetalipoproteinemia type 2 hypobetalipoproteinemia caused by mutation in ANGPTL3 hypobetalipoproteinemia, familial, type 2 Familial hypobetalipoproteinemia 2 atrioventricular and ventriculo-arterial discordance cctga cctgv congenitally corrected tga congenitally corrected transposition of great arteries congenitally corrected transposition of the great vessels corrected transposition of great vessels ctga ctgv discordant atrioventricular a ventriculo-arterial connections discordant ventriculoarterial and atrioventricular connections discordant ventriculoarterial connection with discordant atrioventricular connection double discordance l-transposition l-transposition of the great arteries l-transposition of the great vessels levo-transposition of the great arteries levo-transposition of the great vessels physiologically corrected transposition of the great vessels transposition of great vessels with ventricular inversion ventricular inversion ventriculoarterial and atrioventricular discordance Congenitally corrected transposition of the great arteries ASPM autosomal recessive primary microcephaly autosomal recessive primary microcephaly caused by mutation in ASPM Microcephaly 5, primary, autosomal recessive Cortical blindness-intellectual disability-polydactyly syndrome mirror hands and feet co-occurrent with nasal defect mirror hands and feets-nasal defects syndrome sandrow syndrome Laurin-sandrow syndrome FCS syndrome congenital myopathy with excess of muscle spindles faciocutaneoskeletal syndrome Costello syndrome congenital short costocoracoid ligament Congenitally short costocoracoid ligament Alves-dos Santos-Castelo syndrome ectodermal dysplasia-cataracts-kyphoscoliosis syndrome Tricho-oculo-dermo-vertebral syndrome Cote katsantoni syndrome als10 als10 - amyotrophic lateral sclerosis type 10 amyotrophic lateral sclerosis 10 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with tdp43 inclusions amyotrophic lateral sclerosis 10 without frontotemporal dementia and with tdp43 inclusions amyotrophic lateral sclerosis 10, with or without ftd amyotrophic lateral sclerosis caused by mutation in tardbp frontotemporal lobar degeneration, tardbp-related tardbp amyotrophic lateral sclerosis tardbp-related amyotrophic lateral sclerosis tardbp-related frontotemporal lobar degeneration with tdp43 inclusions Amyotrophic lateral sclerosis type 10 familial pelvis-scapular dysplasia pelviscapular dysplasia syndrome Pelviscapular dysplasia epilepsy, progressive myoclonic 1b epilepsy, progressive myoclonic, type 1b pme prickle1 progressive myoclonic epilepsy prickle1-related progressive myoclonic epilepsy with ataxia progressive myoclonic epilepsy 1b progressive myoclonic epilepsy caused by mutation in prickle1 progressive myoclonus epilepsy with ataxia Epilepsy, progressive myoclonic, 1b epb42 hereditary spherocytosis epb42-related hereditary spherocytosis epb42-related spherocytosis hereditary spherocytosis 5 hereditary spherocytosis caused by mutation in epb42 hs5 sph5 Hereditary spherocytosis type 5 Coxoauricular syndrome meb syndrome muscle-eye-brain disease muscle-eye-brain syndrome santavuori congenital muscular dystrophy Muscle eye brain disease crandall's syndrome Crandall syndrome coa cranio-osteoarthropathy currarino disease currarino idiopathic osteoarthropathy reginato-schiapachasse syndrome Cranioosteoarthropathy Santos-Mateus-Leal syndrome Hirschsprung disease-hearing loss-polydactyly syndrome cdhs craniofacial-hearing loss-hand syndrome sommer young wee frye syndrome sommer-young-wee-frye syndrome Craniofacial-deafness-hand syndrome blss isolated sagittal and bilambdoid craniosynostosis non-syndromic bilambdoid and sagittal craniosynostosis non-syndromic sagittal and bilateral lambdoid synostosis Craniofacial dyssynostosis CFND CFNS craniofrontonasal dysplasia craniofrontonasal dysplasia, X-linked dominant Craniofrontonasal syndrome deficiency of the sarcosine dehydrogenase complex demethylation defect of n-methylglycine high plasma sarcosine levels sar sarcosine dehydrogenase deficiency sarcosinuria Sarcosinemia ARCL1B Cutis laxa, autosomal recessive, type 1B Craniometaphyseal dysplasia, autosomal dominant autosomal recessive craniometaphyseal dysplasia Craniometaphyseal dysplasia, autosomal recessive Craniomicromelic syndrome EXOSC3 non-syndromic pontocerebellar hypoplasia non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3 Pontocerebellar hypoplasia type 1B finlay marks syndrome finlay-marks syndrome scalp, ear, nipple syndrome Scalp-ear-nipple syndrome Craniosynostosis contractures cleft congenital saccade initiation failure ocular motor apraxia cogan type ocular motor apraxia, cogan type oculomotor apraxia, cogan type oculomotor apraxia, congenital, cogan-type Oculomotor apraxia - Cogan type Komuragaeri disease Satoyoshi syndrome craniosynostosis philadelphia type Craniosynostosis, philadelphia type Baller-gerold syndrome Craniotelencephalic dysplasia cerebral creatine deficiency syndrome 1, x-linked recessive cerebral creatine deficiency syndrome type 1 mental retardation , x-linked with seizures, short stature and midface hypoplasia mental retardation , x-linked, with creatine transport deficiency slc6a8 deficiency slc6a8 related creatine transporter deficiency slc6a8-related creatine transporter deficiency Creatine transporter deficiency migratory myiasis myiasitic creeping eruption Creeping myiasis emas emats emats - epilepsy with myoclonic-atonic seizures epilepsy with myoclonic-astatic seizures epilepsy with myoclonic-atonic seizures generalised myoclonic-atonic seizure generalized myoclonic-atonic seizure mae myoclonic atonic epilepsy myoclonic atonic seizures myoclonic-astatic epilepsy in early childhood myoclonic-astatic seizure Epilepsy with myoclonic atonic seizures cold-induced sweating syndrome type 1 crlf1-related cold-induced sweating syndrome including crisponi syndrome Cold-induced sweating syndrome 1 criswick-schepens syndrome exudative vitreoretinopathy fevr fevr - familial exudative vitreoretinopathy Familial exudative vitreoretinopathy congenital cataract, nephropathy, encephalopathy syndrome crome syndrome Cataract-nephropathy-encephalopathy syndrome dee34 developmental and epileptic encephalopathy 34 early infantile epileptic encephalopathy 34 early infantile epileptic encephalopathy caused by mutation in slc12a5 eiee34 epileptic encephalopathy, early infantile, 34 epileptic encephalopathy, early infantile, type 34 slc12a5 early infantile epileptic encephalopathy Developmental and epileptic encephalopathy, 34 CP1 Crossed polydactyly, type I crossed polydactyly Crossed polysyndactyly cleft palate, large ears, small head syndrome say-barber-hobbs syndrome Cleft palate-large ears-small head syndrome boop boop - bronchiolitis obliterans organizing pneumonia bronchiolitis obliterans organising pneumonia cop cryptogenic organising pneumonia cryptogenic organising pneumonitis cryptogenic organizing pneumonitis idiopathic bronchiolitis obliterans with organising pneumonia idiopathic bronchiolitis obliterans with organizing pneumonia organising pneumonia organizing pneumonia Bronchiolitis obliterans organizing pneumonia dee46 early infantile epileptic encephalopathy caused by mutation in grin2d eiee46 epileptic encephalopathy, early infantile, 46 epileptic encephalopathy, early infantile, type 46 grin2d early infantile epileptic encephalopathy Developmental and epileptic encephalopathy, 46 DEE54 EIEE54 HNRNPU-Related Disorder developmental and epileptic encephalopathy 54 epileptic encephalopathy, early infantile, 54 Developmental and epileptic encephalopathy, 54 Cohen-gibson syndrome Currarino triad clm - cutaneous larva migrans duckhunter's itch hookworm cutaneous vesicle larva migrans of skin plumber's itch sandworm Cutaneous larva migrans Cutaneous photosensitivity-lethal colitis syndrome semdjl3 semdjl3 - spondyloepimetaphyseal dysplasia with joint laxity type 3 spondyloepimetaphyseal dysplasia with joint laxity exocyst complex component 6b type spondyloepimetaphyseal dysplasia with joint laxity type 3 spondyloepimetaphyseal dysplasia with joint laxity, exoc6b type Spondyloepimetaphyseal dysplasia with joint laxity, type 3 arcl2a arcl2a - autosomal recessive cutis laxa type 2a atp6v0a2-related cutis laxa autosomal recessive cutis laxa type iia cutis laxa with bone dystrophy cutis laxa with congenital disorder of glycosylation cutis laxa with growth and developmental delay cutis laxa with joint laxity and retarded development cutis laxa with osteodystrophy cutis laxa, autosomal recessive type 2a cutis laxa, autosomal recessive, type 2a cutis laxa, autosomal recessive, type iia cutis laxa, debre type debre-type cutis laxa Autosomal recessive cutis laxa type 2a adcl autosomal dominant cutis laxa cutis laxa, dominant type Cutis laxa, autosomal dominant arcl2, progeroid type arcl2b arcl2b - autosomal recessive cutis laxa type 2b autosomal recessive cutis laxa type 2 caused by mutation in pycr1 autosomal recessive cutis laxa type 2 progeroid type autosomal recessive cutis laxa type 2, progeroid type pycr1 autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa type 2b cutis verticis gyrata furrows in thickened skin on top of scalp primary cutis verticis gyrata scalp folds scalp furrows scalp rugae thickened folds on top of scalp thickening of the scalp Cutis gyrata of scalp Cutler Bass Romshe syndrome Cutler-Bass-Romshe syndrome thyrocerebroretinal syndrome Thyrocerebrorenal syndrome hemorrhagic macular dystrophy pseudoinflammatory fundus dystrophy of sorsby sfd sorsby fundus dystrophy, lavia type sorsby's fundus dystrophy Sorsby fundus dystrophy cd320 methylmalonic acidemia matr methylmalonic acidemia caused by mutation in cd320 methylmalonic acidemia tcb1r type methylmalonic acidemia, tcb1r type methylmalonic acidemia, tcbir type Methylmalonic acidemia due to transcobalamin receptor defect goniodysgenesis hypodontia iridogoniodysgenesis with somatic anomalies rieg rieger's syndrome Rieger anomaly Axenfeld anomaly adpeo adpeo - autosomal dominant progressive external ophthalmoplegia progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 1 progressive external ophthalmoplegia, autosomal dominant Autosomal dominant progressive external ophthalmoplegia C3 classic complement early component deficiency C3 deficiency classic complement early component deficiency caused by mutation in C3 Complement component 3 deficiency deficiency of glucose-6-phosphatase g6p deficiency glycogen storage disease due to g6p deficiency glycogen storage disease due to glucose-6-phosphatase deficiency glycogen storage disease type 1 glycogen storage disease, type 1 glycogen storage disease, type i glycogenosis type 1 glycogenosis type i gsd due to g6p deficiency gsd i gsd type 1 gsd type i gsd1 hepatorenal glycogen storage disease hepatorenal glycogenosis liver glycogen disease von gierke disease von gierke's disease Glycogen storage disease I UGT deficiency bilirubin UDP glucuronyl transferase deficiency bilirubin uridinediphosphate glucuronosyltransferase deficiency bilirubin-UGT deficiency crigler najjar syndrome hereditary unconjugated hyperbilirubinemia Crigler-Najjar syndrome hyperoxaluria, primary primary oxalosis Primary hyperoxaluria familial aldosterone deficiency Familial hypoaldosteronism minicore disease mmd multi-core congenital myopathy multi-core disease multi-minicore disease multicore disease multicore myopathy multiminicore disease Multiminicore myopathy functional methionine synthase deficiency methylcobalamin deficiency Homocystinuria without methylmalonic aciduria lcat (lecithin-cholesterol acyltransferase) deficiency lecithin acyltransferase deficiency lecithin cholesterol acyltransferase deficiency lecithin-cholesterol acyltransferase deficiency LCAT deficiency amniocele exomphalos omphalocele (disease) omphalocoele Congenital omphalocele anemia, congenital, nonspherocytic hemolytic, 4 anemia, congenital, nonspherocytic hemolytic, 4, glucose phosphate isomerase deficient cnsha4 glucosephosphate isomerase deficiency hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency Hemolytic anemia due to glucophosphate isomerase deficiency keratoderma palmoplantar, punctate type 2 palmar, plantar and disseminated porokeratosis porokeratosis 2, palmar, plantar, and disseminated porokeratosis plantaris palmaris et disseminata porokeratosis, palmoplantar type 2 punctate ppk Porokeratosis of Mantoux autosomal recessive thrombophilia due to congenital protein s deficiency hereditary protein s deficiency Hereditary thrombophilia due to congenital protein S deficiency autosomal recessive thrombophilia due to congenital protein c deficiency autosomal recessive thrombophilia due to pc deficiency hereditary protein c deficiency hereditary thrombophilia due to pc deficiency protein c deficiency protein c deficiency disease Hereditary thrombophilia due to congenital protein C deficiency pha type 1 pha1 pseudohypoaldosteronism, type 1 pseudohypoaldosteronism, type i Pseudohypoaldosteronism type 1 Estrogen resistance syndrome Encephalopathy due to sulfite oxidase deficiency syndrome of short p-r interval, normal qrs complexes, and supraventricular tachycardias Lown-Ganong-Levine syndrome 46, xy sex reversal 11 embryonic testicular regression syndrome etrs srxy11 testicular regression - embryonic testicular regression syndrome trs vanishing testes syndrome vanishing testis vanishing testis syndrome 46,xy sex reversal 11 Devriendt-Vandenberghe-Fryns syndrome Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome Autosomal recessive amelia lissencephaly type iii micro-lissencephaly type 3 lissencephaly type iii lissencephaly Microlissencephaly DA2B Freeman-Sheldon syndrome variant arthrogryposis, distal, type 2B distal arthrogryposis type 2B Sheldon-hall syndrome spinocerebellar ataxia, X-linked 1, X-linked recessive spinocerebellar ataxia, X-linked type 1 X-linked progressive cerebellar ataxia Ataxia-tapetoretinal degeneration syndrome SPAX7 autosomal dominant spastic ataxia type 7 spastic ataxia type 7 Spastic ataxia 7 mc5dn2 mitochondrial complex v (atp synthase) deficiency, tmem70 type mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency mitochondrial encephalo-cardio-myopathy due to isolated atp synthase deficiency mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v deficiency neonatal mitochondrial encephalocardiomyopathy due to atp synthase deficiency nuclear-encoded atpase deficiency, tmem70-related Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 Brachytelephalangy-dysmorphism-kallmann syndrome Hyperkeratosis-hyperpigmentation syndrome atrial arrest atrial cardiomyopathy with heart block silent atrium Atrial standstill chondrodysplasia pseudohermaphrodism syndrome chondrodysplasia pseudohermaphroditism syndrome chondrodysplasia with disorder of sex development syndrome chondrodysplasia-disorder of sex development syndrome nivelon nivelon mabille syndrome nivelon-nivelon-mabille syndrome pseudohermaphrodism and chondrodysplasia Chondrodysplasia-pseudohermaphroditism syndrome asd with or without atrioventricular conduction defects atrial heart septal defect caused by mutation in nkx2-5 atrial heart septal defect type 7 atrial septal defect 7 with atrioventricular conduction defects atrial septal defect 7 without atrioventricular conduction defects atrial septal defect 7, with or without av conduction defects atrial septal defect with atrioventricular conduction defects atrial septal defect with atrioventricular conduction defects, somatic atrial septal defect-atrioventricular conduction defects syndrome nkx2-5 atrial heart septal defect Atrial septal defect 7 aural atresia, multiple congenital anomalies, and impaired intellectual development aural atresia-multiple congenital anomalies-intellectual disability syndrome Cooper-Jabs syndrome costovertebral segmentation defect-mesomelia syndrome robinow syndrome, autosomal recessive robinow syndrome, autosomal recessive 1 ror2-related robinow syndrome rrs rrs1 Autosomal recessive robinow syndrome cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency fatal infantile COX deficiency fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency Fatal infantile encephalocardiomyopathy Del(13)(q14) chromosome 13q14 deletion syndrome, isolated cases del(13q14) deletion 13q14 monosomy type 13q14 Chromosome 13q14 deletion syndrome 13q32 deletion deletion 13q32 distal 13q deletion distal monosomy type 13q monosomy 13q32 telomeric deletion13q Distal monosomy 13q 15q26 deletion syndrome Drayer syndrome chromosome 15q26-qter deletion syndrome, isolated cases distal 15q deletion syndrome distal monosomy 15q distal monosomy type 15q monosomy 15q26 telomeric 15q deletion syndrome Chromosome 15q26-qter deletion syndrome 3q13 microdeletion syndrome Del(3)(q13) monosomy 3q13 Chromosome 3q13.31 deletion syndrome Male sterility due to chromosome Y deletion Partial chromosome Y deletion dd dentinal dysplasia dentine dysplasia Dentin dysplasia Chronic diarrhea with villous atrophy Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome Diabetic embryopathy EME early myoclonic encephalopathy with suppression-bursts epileptic seizures - myoclonic epileptic seizures, myoclonic myoclonia epileptica myoclonic epilepsy myoclonic seizure myoclonic seizure disorder Early myoclonic encephalopathy autosomal dominant gingival fibromatosis autosomal dominant gingival hyperplasia hereditary fibrous enlargement of gingiva hereditary gingival hyperplasia Hereditary gingival fibromatosis 46,XX ovotesticular DSD ovotesticular DSD ovotesticular differences of sex development ovotesticular disorders of sex development 46,XX ovotesticular disorder of sex development genetic nodular heterotopia nodular heterotopia Nodular neuronal heterotopia Al Awadi-Farag-Teebi syndrome Primary hypergonadotropic hypogonadism-partial alopecia syndrome Bosma arhinia-microphthalmia syndrome Bosma-Henkin-Christiansen syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome familial primary pulmonary hypoplasia idiopathic pulmonary hypoplasia Primary pulmonary hypoplasia CSBS Congenital short bowel syndrome Absence deformity of leg-cataract syndrome Kenny syndrome Kenny-Caffey syndrome larsen-like multiple joint dislocation syndrome larsen-like syndrome, isolated cases Larsen-like osseous dysplasia-short stature syndrome Laryngeal web Congenital laryngeal web laryngeal abductor paralysis-intellectual disability syndrome plott syndrome Laryngeal abductor paralysis with intellectual disability syndrome fryns macrocephaly macrocephaly with spastic paraplegia and dysmorphism syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome congenital hypertrophy of tongue Congenital macroglossia familial schizencephaly, emx2-related familial schizencephaly, six3-related Schizencephaly cutaneous and mucosal venous malformation multiple cutaneous and mucosal venous malformation multiple venous malformation of skin and mucous membrane vmcm Multiple cutaneous and mucosal venous malformations Upper limb defect-eye and ear abnormalities syndrome oculo-palato-cerebral dwarfism Oculo-palato-cerebral syndrome cecato de lima-pinheiro syndrome cecatto de lima pinheiro syndrome Oculotrichodysplasia Omodysplasia familial recurrent Bell palsy Familial recurrent peripheral facial palsy early onset parkinson disease early onset parkinson's disease early-onset parkinson disease yopd young onset parkinson disease young onset parkinson's disease Young-onset parkinson disease kosenow syndrome pelvis shoulder dysplasia scapuloiliac dysostosis Pelvis-shoulder dysplasia Short stature-valvular heart disease-characteristic facies syndrome pepck - phosphoenolpyruvate carboxykinase deficiency pepck deficiency Phosphoenolpyruvate carboxykinase (GTP) deficiency Postaxial polydactyly-dental and vertebral anomalies syndrome congenital leukocyte adherence deficiency Leukocyte adhesion deficiency female pseudohermaphroditism-skeletal anomalies syndrome 46,XX disorder of sex development-skeletal anomalies syndrome blepharophimosis, intellectual disability syndrome, say-barber-biesecker-young-simpson type blepharophimosis-intellectual deficit syndrome, say-barber/biesecker/young-simpson type hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome mental retardation unusual facies hypothyroidism ohdo syndrome, say-barber-biesecker-young-simpson variant say-barber-biesecker variant of ohdo syndrome say-barber-biesecker-young-simpson variant of ohdo syndrome sbbys variant of ohdo syndrome sbbyss sbbyss syndrome young simpson syndrome Blepharophimosis - intellectual disability syndrome, SBBYS type alpha-n-acetylgalactosaminidase activity disease disorder of alpha-n-acetylgalactosaminidase activity naga (alpha-n-acetylgalactosaminidase) deficiency naga deficiency schindler disease Alpha-n-acetylgalactosaminidase deficiency x-linked spasticity, intellectual disability, epilepsy syndrome X-linked spasticity-intellectual disability-epilepsy syndrome isolated metopic craniosynostosis isolated trigonocephaly metopic craniosynostosis non-syndromic metopic craniosynostosis non-syndromic metopic suture synostosis nonsyndromic trigonocephaly trigonocephaly, isolated trigonocephaly, nonsyndromic Interfrontal craniofaciosynostosis common aorticopulmonary trunk common aortopulmonary trunk common arterial trunk common arterial trunk (truncus arteriosus) common truncus arteriosus persistent truncus arteriosus (disease) tac truncus arteriosus communis Persistent truncus arteriosus classic xanthinuria classical xanthinuria xanthic urolithiasis xanthine dehydrogenase deficiency xanthine stone disease Hereditary xanthinuria elejalde neuroectodermal melanolysosomal syndrome Neuroectodermal melanolysosomal disease anemia, congenital, nonspherocytic hemolytic, 7 cnsha7 gamma-glutamylcysteine synthetase deficiency, hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to glutamate-cysteine ligase deficiency hemolytic anaemia due to gamma-glutamylcysteine synthetase deficiency hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency inborn error of glutamate-cysteine ligase activity inborn glutamate-cysteine ligase activity disorder rare inborn error of glutamate-cysteine ligase activity Gamma-glutamylcysteine synthetase deficiency SCID, autosomal recessive, T-negative/B-positive type T-B+ SCID due to JAK3 deficiency T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency T-B+ severe combined immunodeficiency due to JAK3 deficiency anemia, congenital, nonspherocytic hemolytic, 8 anemia, hemolytic, due to umph1 deficiency cnsha8 hemolytic anemia due to p5n deficiency hemolytic anemia due to umph1 deficiency p5n deficiency pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to umph1 deficiency uridine 5'-monophosphate hydrolase deficiency uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency lysosomal acid phosphatase deficiency Acid phosphatase deficiency nanophthalmos Nanophthalmia combined deficiency of factor v and factor type viii f5f8d factor v and factor viii combined deficiency familial multiple coagulation factor deficiency fv and fviii combined deficiency Combined deficiency of factor v and factor viii distal deletion 1q distal monosomy 1q syndrome distal monosomy type 1q monosomy 1qter telomeric deletion 1q Distal monosomy 1q acetazolamide-responsive periodic ataxia ataxia, episodic, with myokymia continuous muscle fiber activity ea1 episodic ataxia type 1 (ea1) episodic ataxia with myokymia episodic ataxia, type 1 episodic ataxia/myokymia syndrome familial paroxysmal kinesigenic ataxia and continuous myokymia hereditary episodic ataxia caused by mutation in kcna1 hereditary paroxysmal ataxia with neuromyotonia isaacs-mertens syndrome kcna1 hereditary episodic ataxia myokymia with episodic ataxia myokymia with periodic ataxia paroxysmal ataxia with neuromyotonia, hereditary Episodic ataxia type 1 aconitase deficiency hereditary myopathy with lactic acidosis iron-sulfur cluster deficiency myopathy iscu myopathy myopathy with deficiency of iron-sulfur cluster assembly enzyme myopathy with deficiency of iron-sulphur cluster assembly enzyme myopathy with exercise intolerance, swedish type Hereditary myopathy with lactic acidosis due to iscu deficiency bicarbonate reabsorption defect proximal tubular acidosis prta renal tubular acidosis type 2 renal tubular acidosis, rate type renal tubular acidosis, type 2 renal tubular acidosis, type ii rta (renal tubular acidosis) type ii type 2 renal tubular acidosis type 2 rta type ii renal tubular acidosis Proximal renal tubular acidosis ccfdn ccfdn - congenital cataracts, facial dysmorphism and neuropathy congenital cataracts, facial dysmorphism and neuropathy Congenital cataracts-facial dysmorphism-neuropathy syndrome lipodystrophy-intellectual disability-hearing loss syndrome rajab-spranger syndrome Lipodystrophy-intellectual disability-deafness syndrome boyadjiev jabs syndrome boyadjiev-jabs syndrome cranio-lenticulo-sutural dysplasia, clsd Craniolenticulosutural dysplasia branchiogenic hearing loss syndrome megarbane loiselet syndrome mégarbané-loiselet syndrome Branchiogenic deafness syndrome SSPS eccrine tumors-ectodermal dysplasia keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome Schöpf-Schulz-Passarge syndrome genetic short qt syndrome sqts ventricular arrhythmia associated with short qt syndrome Short QT syndrome torsade de pointes short coupled variant torsade de pointes with short coupling interval syndrome Torsade-de-pointes syndrome with short coupling interval Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency Braddock syndrome Longman-Tolmie syndrome Craniosynostosis-intracranial calcifications syndrome Morava-Mehes syndrome Ulnar/fibula ray defect-brachydactyly syndrome rpa Retinitis punctata albescens dystonia type 9 dyt9 episodic choreoathetosis/spasticity paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity Dystonia 9 aahd arthrogryposis-anterior horn cell disease syndrome caahd congenital arthrogryposis with anterior horn cell disease laahd vuopala disease Lethal arthrogryposis-anterior horn cell disease syndrome daish-hardman-lamont syndrome hydrocephalus, tall stature, joint laxity syndrome hydrocephaly, tall stature, joint laxity syndrome Hydrocephaly-tall stature-joint laxity syndrome caitlin marks catlin marks enlarged parietal foramina fenestrae parietales symmetricae foramina parietalia permagna hereditary cranium bifidum holes in parietal bones openings in parietal bones persistent foramina of the parietal bones symmetric parietal foramina symmetrical, oval defects in the parietal bone symmetrical, oval parietal bone defects Parietal foramina Idiopathic bronchiectasis distal ABD-filaminopathy myopathy, distal, type 4 Distal myopathy with posterior leg and anterior hand involvement cae - childhood absence epilepsy early onset absence epilepsy pyknolepsy Childhood absence epilepsy OHSS secondary Meig's syndrome Ovarian hyperstimulation syndrome beta-alanine synthase deficiency deficiency of beta-ureidopropionase Beta-ureidopropionase deficiency pancreatic and cerebellar agenesis Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome epilepsy due to FCD Isolated focal cortical dysplasia arthrogryposis, distal, type iid distal arthrogryposis type 4 distal arthrogryposis type iid Arthrogryposis-severe scoliosis syndrome bipartite clavicle clavicle pseudoarthrosis congenital pseudarthrosis of the clavicle pseudoarthrosis of clavicle Congenital pseudoarthrosis of clavicle vertebral ossification, defect in, with nephrogenic rests Diaphanospondylodysostosis deficiency of hyaluronidase mps ix mps9 mpsix mucopolysaccharidosis type 9 Deficiency of hyaluronoglucosaminidase X-linked congenital dyserythropoietic anaemia with thrombocytopenia X-linked congenital dyserythropoietic anemia with thrombocytopenia XDAT congenital dyserythropoietic anaemia with thombocytopenia congenital dyserythropoietic anemia with thombocytopenia Thrombocytopenia with congenital dyserythropoietic anemia odonto-tricho-ungual-digito-palmar syndrome mendoza-valiente type odonto-tricho-ungual-digito-palmar syndrome, mendoza-valiente type Odonto-tricho-ungual-digito-palmar syndrome HNED PHNED hair-nail ectodermal dysplasia Pure hair and nail ectodermal dysplasia anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome ol-eda-id ol-eda-id (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Anonychia with flexural pigmentation abcb4 gene mutation-associated cholelithiasis abcb4-related cholelithiasis cholelithiasis with abcb4 gene mutation gallbladder disease type 1 gallstone cholecystitis low phospholipid-associated cholelithiasis lpac Low phospholipid associated cholelithiasis bosley salih alorainy syndrome bsas Bosley-Salih-Alorainy syndrome congenital deafness with split hands and feet shfm1d split hand, split foot malformation with sensorineural hearing loss syndrome split hand-split foot-hearing loss syndrome split-hand/foot malformation 1 with sensorineural hearing loss Split hand-foot malformation 1 with sensorineural hearing loss ATRUS syndrome Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome THCYT familial thrombocythemia hereditary thrombocythemia hereditary thrombocytosis hereditary thrombocytosis disease Familial thrombocytosis dandy-walker malformation with postaxial polydactyly syndrome dwm with postaxial polydactyly pierquin syndrome Dandy-Walker malformation-postaxial polydactyly syndrome familial isolated retinal arterial tortuosity retinal arterial tortuosity (disease) retinal arteriolar tortuosity retinal artery tortuousity retinal haemorrhage with vascular tortuosity retinal hemorrhage with vascular tortuosity tortuosity of retinal arteries Retinal arterial tortuosity autosomal dominant cystoid macular edema autosomal dominant cystoid macular oedema cme - cystoid macular edema dcmd familial macular edema familial macular oedema Cystoid macular edema mini-chromosome maintenance 4 primary immunodeficiency due to MCM4 deficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency grange occlusive arterial syndrome progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome Grange syndrome ekns Eiken syndrome Neonatal diabetes mellitus with congenital hypothyroidism dend (developmental delay, epilepsy, neonatal diabetes) syndrome developmental delay, epilepsy, neonatal diabetes syndrome developmental delay-epilepsy-neonatal diabetes syndrome DEND syndrome episodic ataxia and vertigo with tinnitus and myokymia syndrome episodic ataxia-vertigo-tinnitus-myokymia syndrome Episodic ataxia type 3 PATX periodic vestibulocerebellar ataxia Episodic ataxia type 4 GEPD Generalized epilepsy-paroxysmal dyskinesia syndrome PPK nummularis Plamoplantar hyperkeratosis nummularis Plamoplantar keratoderma nummularis keratosis palmoplantaris nummularis Hereditary painful callosities akv - acrokeratosis verruciformis akv of hopf hopf disease Acrokeratosis verruciformis of Hopf aakad alpha-aminoadipic aciduria alpha-aminoadipic and alpha-ketoadipic aciduria amino adipic aciduria aminoadipic aciduria amoxad ketoadipicaciduria 2-aminoadipic 2-oxoadipic aciduria hydroxylysine high in urine Seizures-intellectual disability due to hydroxylysinuria syndrome daneman-davy-mancer syndrome multinodular goiter, cystic kidney, polydactyly syndrome thyroid, renal, digital anomaly syndrome thyroid-renal-digital anomalies Multinodular goiter-cystic kidney-polydactyly syndrome gout, hprt1-related hprt deficiency, grade i hprt partial deficiency hprt-related gout hprt-related hyperuricemia hprt1 partial deficiency hyperuricemia, hrpt-related, x-linked recessive hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade i hypoxanthine guanine phosphoribosyltransferase partial deficiency partial hgprt deficiency Partial hypoxanthine-guanine phosphoribosyltransferase deficiency glycogen storage disease 9b glycogen storage disease caused by mutation in phkb glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency glycogen storage disease type 9b glycogen storage disease type ixb glycogenosis due to liver and muscle phosphorylase kinase deficiency glycogenosis type 9b glycogenosis type ixb gsd due to liver and muscle phosphorylase kinase deficiency gsd ixb gsd type 9b gsd type ixb gsd9b phkb glycogen storage disease phkb-related glycogen storage disease type ix phkb-related phosphorylase kinase deficiency Glycogen storage disease ixb BASD3 CBAS3 CYP7B1 congenital bile acid synthesis defect bile acid synthesis defect, congenital, type 3 congenital bile acid synthesis defect caused by mutation in CYP7B1 congenital bile acid synthesis defect type 3 oxysterol 7-alpha-hydroxylase deficiency Congenital bile acid synthesis defect 3 chondrodysplasia punctata, tibial-metacarpal type Chondrodysplasia punctata, MT type Toriello-Higgins-Miller syndrome Chondrodysplasia punctata, toriello type camisa disease keratoderma hereditarium mutilans with ichthyosis keratoderma hereditarium mutilans with ichthyosis syndrome keratoderma ichthyosiform dermatosis elevated beta-glucuronidase syndrome keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome vohwinkel ichthyosis syndrome vohwinkel syndrome with ichthyosis Loricrin keratoderma dystrophic epidermolysis bullosa inversa dystrophic epidermolysis bullosa inverse type inverse rdeb inverse recessive dystrophic epidermolysis bullosa rdeb inversa rdeb-i Recessive dystrophic epidermolysis bullosa inversa OCA4 SLC45A2 oculocutaneous albinism oculocutaneous albinism caused by mutation in SLC45A2 Oculocutaneous albinism type 4 deficiency of leukotriene c4 synthase hypotonia with failure to thrive and microcephaly syndrome leukotriene c4 synthase deficiency ltc4 synthase deficiency Hypotonia-failure to thrive-microcephaly syndrome autosomal recessive hyperinsulinemic hypoglycemia due to sur1 deficiency autosomal recessive hyperinsulinism due to sulfonylurea receptor 1 deficiency Autosomal recessive hyperinsulinism due to sur1 deficiency autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Autosomal recessive hyperinsulinism due to kir6.2 deficiency familial glomangioma hereditary glomangioma hereditary multiple glomangioma hereditary multiple glomangiomas multiple glomus tumors multiple glomus tumours venous malformations with glomus cells vmglom Glomuvenous malformation congenital diarrhea caused by mutation in neurog3 congenital diarrhoea caused by mutation in neurog3 congenital malabsorptive diarrhea due to paucity of enteroendocrine cells congenital malabsorptive diarrhea type 4 congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells congenital malabsorptive diarrhoea type 4 diarrhea 4, malabsorptive, congenital, with diabetes mellitus and combined pituitary hormone deficiency enteric anendocrinosis neurog3 congenital diarrhea neurog3 congenital diarrhoea Congenital malabsorptive diarrhea 4 boichis disease boichis syndrome nephronophthisis hepatic fibrosis syndrome nephronophthisis-hepatic fibrosis syndrome Senior-Boichis syndrome Hereditary thermosensitive neuropathy palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome Palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome Vasterbotten dystrophy Västerbotten dystrophy Bothnia retinal dystrophy Familial digital arthropathy-brachydactyly SWILS Saul-Wilson syndrome microcephalic osteodysplastic dysplasia Microcephalic osteodysplastic dysplasia, saul-wilson type craniometadiaphyseal dysplasia, wormian bone type schwartz-lelek syndrome Craniometadiaphyseal dysplasia wormian bone type metaphyseal dysplasia braun tinschert type Metaphyseal dysplasia, braun-tinschert type calvarial doughnut lesion with bone fragility syndrome calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia doughnut lesion of calvaria and bone fragility syndrome familial doughnut lesions of skull Calvarial doughnut lesions-bone fragility syndrome spondyloocular syndrome, autosomal recessive Spondylo-ocular syndrome Genochondromatosis type 1 Armfield X-linked intellectual disability syndrome MRXSA X-linked intellectual disability, Armfield type intellectual developmental disorder, X-linked, syndromic, Armfield type, X-linked recessive intellectual disability syndrome, X-linked, Armfield type mental retardation syndrome, X-linked, armfield type, X-linked recessive syndromic X-linked intellectual disability Armfield type Armfield syndrome intellectual developmental disorder, x-linked 98 intellectual developmental disorder, x-linked 98, x-linked dominant intellectual disability, x-linked type 98 kiaa2022-related x-linked mental retardation xlid98 X-linked intellectual disability, Cantagrel type intellectual developmental disorder, x-linked syndromic, claes-jensen type, x-linked recessive intellectual developmental disorder, x-linked, syndromic 16 intellectual developmental disorder, x-linked, syndromic, claes-jensen type intellectual disability, x-linked, syndromic, claes-jensen type kdm5c-related syndromic x-linked intellectual disability mental retardation, x-linked, syndromic 16 mrxscj mrxsj syndromic x-linked intellectual disability due to jarid1c mutation syndromic x-linked intellectual disability jarid1c-related Syndromic X-linked intellectual disability Claes-Jensen type Cubitus valgus with mental retardation and unusual facies, X-linked recessive X-linked intellectual disability-cubitus valgus-dysmorphism syndrome brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome bresek (brain anomaly, severe mental retardation, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia) syndrome bresheck syndrome x-linked mental retardation reish type BRESEK syndrome X-linked intellectual disability, Wilson type intellectual disability, X-linked, syndromic 12 syndromic X-linked intellectual disability type 12 Syndromic X-linked intellectual disability 12 X-linked epilepsy-learning disabilities-behavior disorders syndrome epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant Epilepsy, x-linked 1, with variable learning disabilities and behavior disorders deafness and intellectual disability martin probst type syndrome hearing loss-intellectual disability syndrome, martin-probst type martin probst syndrome martin-probst syndrome martin-probst syndrome, x-linked recessive x-linked deafness and intellectual disability syndrome x-linked deafness-intellectual disability syndrome syndrome x-linked hearing loss-intellectual disability syndrome syndrome Deafness-intellectual disability, Martin-Probst type syndrome MRXS9 intellectual disability, X-linked, syndromic 9 Syndromic X-linked intellectual disability Shrimpton type Fried syndrome amyloid polyneuropathy type i amyloidosis, type i andrade syndrome andrade type amyloid polyneuropathy attrv30m-related amyloidosis corino de andrade paramyloidosis familial amyloid neuropathy, andrade type familial amyloid neuropathy, portuguese type familial amyloid polyneuropathy, 30 met-for-val hereditary amyloid polyneuropathy portuguese type hereditary attrv30m-related amyloidosis hereditary neuropathic amyloidosis, type i japanese type amyloid polyneuropathy portuguese polyneuritic amyloidosis portuguese type amyloid polyneuropathy swedish type amyloid polyneuropathy wohlwill-corino andrade syndrome ATTRV30M amyloidosis attr cardiomyopathy attrv122i-related amyloidosis transthyretin amyloid cardiopathy transthyretin related familial amyloid cardiomyopathy transthyretin-related familial amyloid cardiomyopathy ttr-related amyloid cardiomyopathy ttr-related cardiac amyloidosis ATTRV122I amyloidosis familial cutaneous amyloidosis partington disease pdr pigmentary disorder, reticulate, with systemic manifestations, x-linked, x-linked recessive x-linked cutaneous amyloidosis x-linked reticulate pigmentary disorder with systemic manifestation syndrome xlpdr X-linked reticulate pigmentary disorder atrophia areata scra Helicoid peripapillary chorioretinal degeneration adcme autosomal dominant cortical myoclonus and epilepsy bafme bafme - benign adult familial myoclonic epilepsy benign adult familial myoclonus epilepsy fame familial adult myoclonic epilepsy familial cortical myoclonic tremor and epilepsy fcmte Benign adult familial myoclonic epilepsy alsg aplasia of lacrimal and salivary gland aplasia of lacrimal and salivary glands congenital absence of lacrimal puncta and salivary glands congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland Congenital absence of salivary gland adenylate kinase deficiency, hemolytic anaemia due to adenylate kinase deficiency, hemolytic anemia due to anemia, congenital, nonspherocytic hemolytic, 3 cnsha3 Hemolytic anemia due to adenylate kinase deficiency alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome amme complex amme syndrome Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome papular atrichia Atrichia with papular lesions Lissencephaly type 3-metacarpal bone dysplasia syndrome palmoplantar keratoderma-clinodactyly syndrome Keratosis palmaris et plantaris-clinodactyly syndrome hereditary palmoplantar keratoderma gamborg nielsen type Hereditary palmoplantar keratoderma, gamborg-nielsen type blue colour blindness blue yellow color blindness blue yellow colour blindness blue-yellow dyschromatopsia blue/yellow color vision defect blue/yellow colour vision defect congenital tritanopia dyschromatopsia, blue-yellow tritan color blindness tritan colour blindness tritan defect tritanomaly tritanopia Blue color blindness terminal osseous dysplasia, X-linked dominant Terminal osseous dysplasia-pigmentary defects syndrome vacuolar aggregate myopathy vacuolar myopathy with sarcoplasmic reticulum protein aggregates Myopathy due to calsequestrin and serca1 protein overload autosomal dominant progressive nephropathy with hypertension familial nephropathy nephropathy-hypertension Progressive hereditary glomerulonephritis without deafness autosomal recessive generalized ebs autosomal recessive generalized epidermolysis bullosa simplex ebs, autosomal recessive k14 ebs-ar krt14 epidermolysis bullosa simplex, autosomal recessive type 1 krt14-related autosomal recessive ebs krt14-related autosomal recessive epidermolysis bullosa simplex krt14-related epidermolysis bullosa simplex Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive deb pruriginosa deb-pr dystrophic epidermolysis bullosa pruriginosa pruriginous dystrophic epidermolysis bullosa Epidermolysis bullosa pruriginosa ADHR autosomal dominant hereditary hypophosphatemic rickets autosomal dominant hypophosphatemia hereditary hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal dominant Autosomal dominant hypophosphatemic rickets bornholm eye disease, x-linked recessive high myopia with nonprogressive cone dysfunction X-linked cone dysfunction syndrome with myopia primary immunodeficiency syndrome due to LAMTOR2 deficiency primary immunodeficiency syndrome with short stature Primary immunodeficiency syndrome due to p14 deficiency PSHK2 pseudohyperkalemia, familial, 2, due to red cell leak Familial pseudohyperkalemia cmt-deafness-intellectual disability syndrome hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome charcot-marie-tooth disease type 6 charcot-marie-tooth disease, type 6 cmt6 hereditary motor and sensory neuropathy type 6 hereditary motor and sensory neuropathy type vi hereditary motor and sensory neuropathy vi hereditary motor-sensory neuropathy with optic atrophy hereditary motor-sensory neuropathy, type vi hereditary sensory and motor neuropathy, type vi hmsn 6 hmsn vi peripheral neuropathy and optic atrophy Hereditary motor and sensory neuropathy with optic atrophy hereditary hypotrichosis simplex of the scalp Hypotrichosis simplex of the scalp chng1 congenital hypothyroidism due to thyroid stimulating hormone receptor mutation hypothyroidism due to tsh receptor mutation hypothyroidism due to tshr (thyroid stimulating hormone receptor) mutation hypothyroidism, congenital, nongoitrous, type 1 tsh resistance Hypothyroidism due to tsh receptor mutations hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome PXE-like syndrome pseudoxanthoma elasticum-like syndrome Body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency nonsyndromic cryptophthalmia Isolated cryptophthalmia nonsyndromic congenital alacrima Isolated congenital alacrima De Smet-Fabry-Fryns syndrome frints de Smet Fabry Fryns syndrome symbrachydactyly of the hand and foot Symbrachydactyly of hands and feet hardening of skin and connective tissue isolated congenital sclerocornea sclerocornea (disease) Sclerocornea age-related nuclear cataract Early-onset non-syndromic cataract Macular coloboma-cleft palate-hallux valgus syndrome congenital retinal detachment congenital retinal septum ncrna disease non-syndromic congenital retinal non-attachment persistent fetal vasculature persistent fetal vasculature syndrome persistent foetal vasculature persistent foetal vasculature syndrome persistent hyaloid artery persistent hyperplasia of primary vitreous persistent hypertrophic primary vitreous persistent posterior fetal fibrovascular sheath of the lens persistent posterior foetal fibrovascular sheath of the lens persistent tunica vasculosa lentis pfvs phpv phpv - persistent hyperplastic primary vitreous remnants of the hyaloid vascular system Persistent hyperplastic primary vitreous calcitriol receptor defect end organ unresponsiveness to 1,25-dihydroxycholecalciferol familial hypophosphatemic rickets hereditary 1,25 dihydroxyvitamin d-resistant rickets with abnormal vitamin d receptor hereditary vitamin d-resistant rickets hvdrr hypocalcemic vitamin d-resistant rickets type 2 vitamin d-dependent rickets vddr ii vddr2 vdrr ii vitamin d dependent rickets 2 vitamin d receptor deficiency vitamin d-dependent rickets type ii vitamin d-resistant rickets type ii Vitamin D-dependent rickets, type 2 fragile x associated tremor ataxia syndrome fragile x tremor/ataxia syndrome, x-linked dominant fxtas syndrome Fragile x-associated tremor/ataxia syndrome chronic allograft nephropathy chronic kidney allograft nephropathy crouzon-dermoskeletal syndrome crouzonodermoskeletal syndrome Crouzon syndrome-acanthosis nigricans syndrome cloverleaf skull with multiple congenital anomalies syndrome Cloverleaf skull-multiple congenital anomalies syndrome mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis Namaqualand hip dysplasia brachyolmia 4 with mild epiphyseal and metaphyseal changes spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type spondyloepimetaphyseal dysplasia pakistani type spondyloepimetaphyseal dysplasia papss2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type spondyloepimetaphyseal dysplasia papss2 type spondyloepimetaphyseal dysplasia, pakistani type Spondyloepimetaphyseal dysplasia, papss2 type spondyloepiphyseal dysplasia kimberley type Spondyloepiphyseal dysplasia, kimberley type brachyolmia type 2 brachyolmia, maroteaux type Brachyolmia - Maroteaux type nonsyndromic postaxial polydactyly type a papa postaxial polydactyly type a (disease) Postaxial polydactyly type a PAPB Postaxial polydactyly type b semd, irapa type spondyloepimetaphyseal dysplasia irapa type spondyloepimetaphyseal dysplasia, irapa type Autosomal recessive spondyloepimetaphyseal dysplasia Genochondromatosis type 2 Brachydactyly-syndactyly syndrome intellectual developmental disorder, x-linked, syndromic, hedera type intellectual developmental disorder, x-linked, syndromic, hedera type, x-linked recessive intellectual disability, x-linked, syndromic, hedera type mrxe mrxsh x-linked intellectual disability hedera type x-linked intellectual disability with epilepsy Syndromic X-linked intellectual disability Hedera type absent ear absent ears agenesis of external ear congenital absence of auricle congenital absence of ear auricle congenital absence of external ear congenital absence of pinna Anotia ataxia, cerebellar, cayman type cayman ataxia cayman cerebellar ataxia cerebellar ataxia cayman type Cayman type cerebellar ataxia isolated lissencephaly sequence pafah1b1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly pafah1b1-related lissencephaly Lissencephaly due to lis1 mutation familial adrenal hypoplasia with absent pituitary LH familial adrenal hypoplasia, miniature type Familial adrenal hypoplasia with absent pituitary luteinizing hormone hearing loss-ear malformation-facial palsy syndrome sellars-beighton syndrome Deafness-ear malformation-facial palsy syndrome hypospadias, severe form non-syndromic posterior hypospadias perineal, scrotal or penoscrotal hypospadias Posterior hypospadias aberrant thyroid aberrant thyroid gland abnormal thyroid location heteropic thyroid gland thyroid ectopia Ectopic thyroid athyreosis athyroidal hypothyroidism congenital absence of thyroid gland Thyroid agenesis nongoitrous hyperthyrotropinemia Familial thyroid dyshormonogenesis congenital absence of half of thyroid congenital hemiagenesis of thyroid Thyroid hemiagenesis 6p subtelomeric deletion syndrome 6p25 microdeletion syndrome chromosome 6pter-p24 deletion syndrome, isolated cases distal deletion 6p distal monosomy 6p distal monosomy type 6p monosomy 6p25 Chromosome 6pter-p24 deletion syndrome del(13)(q34) distal deletion 13q34 monosomy 13q34 syndrome monosomy type 13q34 subtelomeric deletion 13q34 Monosomy 13q34 maternal uniparental disomy of chromosome type 20 maternal upd(20) maternal upd20 (uniparental disomy of chromosome 20) upd(20)mat Maternal uniparental disomy of chromosome 20 autosomal recessive deafness onychodystrophy syndrome autosomal recessive deafness-onychodystrophy syndrome autosomal recessive hearing loss-onychodystrophy syndrome deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome deafness-onychoosteodystrophy-intellectual disability syndrome door syndrome hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome hearing loss-onychoosteodystrophy-intellectual disability syndrome DOORS syndrome papillary thyroid carcinoma with renal papillary neoplasia ptc-rcc Familial papillary thyroid carcinoma with renal papillary neoplasia Urrets-Zavalia syndrome Syndromic orbital border hypoplasia hearing loss-craniofacial syndrome Deafness-craniofacial syndrome alpha thalassemia intellectual disability syndrome, deletion type alpha thalassemia-intellectual disability syndrome alpha thalassemia-intellectual disability syndrome, deletion type alpha thalassemia-retardation syndrome alpha-thalassemia intellectual disability syndrome linked to chromosome 16 alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 alpha-thalassemia-intellectual disability syndrome linked to chromosome type 16 alpha-thalassemia/intellectual disability syndrome, type 1 atr syndrome linked to chromosome 16 atr syndrome, deletion type atr-16 atr-16 syndrome chromosome 16-related alpha-thalassemia/mental retardation syndrome Alpha thalassemia-intellectual disability syndrome type 1 melanesian elliptocytosis melanesian ovalocytosis ovalocytosis, sa type sao stomatocytic elliptocytosis stomatocytic elliptocytosis, hereditary Southeast asian ovalocytosis autosomal recessive limb-girdle muscular dystrophy caused by mutation in des autosomal recessive limb-girdle muscular dystrophy type 2r des autosomal recessive limb-girdle muscular dystrophy des myofibrillar myopathy (disease) desmin related myopathy (former name) desmin storage myopathy (former name) desmin-related myofibrillar myopathy desminopathy limb-girdle muscular dystrophy type 1d myofibrillar myopathy (disease) caused by mutation in des myofibrillar myopathy type 1 myopathy, myofibrillar, type 1 Myofibrillar myopathy 1 HDL2 Huntington disease-like type 2 Huntington disease-like 2 Coloboma of choroid and retina band-shaped and whorled microcystic band-shaped and whorled microcystic dystrophy of corneal epithelium band-shaped and whorled microcystic dystrophy of the corneal epithelium corneal dystrophy, lisch epithelial, x-linked dominant lecd Lisch epithelial corneal dystrophy SMCD Subepithelial mucinous corneal dystrophy FCD FranC'ois-Neetens speckled corneal dystrophy Francois-Neetens speckled corneal dystrophy François-Neetens speckled corneal dystrophy corneal fleck dystrophy Fleck corneal dystrophy chitty hall baraitser syndrome chitty-hall-baraitser syndrome deafness with epiphyseal dysplasia and short stature syndrome hearing loss-epiphyseal dysplasia-short stature syndrome Deafness-epiphyseal dysplasia-short stature syndrome PACD posterior amorphous stromal dystrophy Posterior amorphous corneal dystrophy ccdf central cloudy corneal dystrophy of françois central cloudy dystrophy of françois francois' cloudy dystrophy of cornea Central cloudy dystrophy of Francois corneal dystrophy, hereditary polymorphous posterior corneal dystrophy, posterior polymorphous hereditary polymorphus posterior corneal dystrophy polymorphous posterior corneal dystrophy posterior polymorphous corneal dystrophy posterior polymorphous dystrophy ppcd schlichting dystrophy Polymorphous corneal dystrophy childhood glaucoma childhood glaucoma (disease) developmental glaucoma glaucoma (disease) of childhood infantile glaucoma joag juvenile glaucoma juvenile open angle glaucoma paediatric glaucoma paediatric glaucoma (disease) pediatric glaucoma pediatric glaucoma (disease) Glaucoma of childhood butterfly-shaped pattern dystrophy butterfly-shaped pigmentary macular dystrophy Butterfly-shaped pigment dystrophy 6pgd deficiency pgdd 6-phosphogluconate dehydrogenase deficiency lymphedema, posterior choanal atresia syndrome Lymphedema-posterior choanal atresia syndrome SLC35D1-CDG chondrodysplasia with snail-like pelvis Schneckenbecken dysplasia kandori fleck retina syndrome kandori's syndrome Kandori fleck retina Metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria fried's tooth and nail syndrome Ectodermal dysplasia 8, hair/tooth/nail type exercise induced delayed onset myotonia fluctuating myotonia mf Myotonia fluctuans Myotonia permanens failure of development of between one and six teeth familial tooth agenesis missing between one and six teeth partial anodontia partial congenital absence of teeth selective tooth agenesis tooth agenesis tooth agenesis, familial tooth agenesis, selective Hypodontia congenital central alveolar hypoventilation with hirschsprung disease syndrome congenital central alveolar hypoventilation-hirschsprung disease syndrome ohd ondine hirschsprung disease ondine hirschsprung syndrome ondine-hirschsprung disease ondine-hirschsprung syndrome Haddad syndrome deafness and hypogonadism syndrome hearing loss-hypogonadism syndrome Deafness-hypogonadism syndrome OOD Oculootodental syndrome peho syndrome-like pehol (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like) syndrome progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome Peho-like syndrome Familial gestational hyperthyroidism central hypothyroidism due to trh receptor deficiency congenital central hypothyroidism due to thyrotropin-releasing hormone receptor deficiency resistance to thyrotropin-releasing hormone syndrome trh (thyrotropin-releasing hormone) resistance syndrome trh resistance syndrome Hypothyroidism, congenital, nongoitrous, 7 genetic recurrent myoglobinuria Hereditary recurrent myoglobinuria myoglobinuria, autosomal dominant Autosomal dominant myoglobinuria fihp fihpt fihpt - familial isolated hyperparathyroidism Familial isolated hyperparathyroidism autosomal dominant axonal charcot-marie-tooth disease type 2a2 charcot-marie-tooth disease type 2 caused by mutation in mfn2 charcot-marie-tooth disease, axonal, type 2a2a charcot-marie-tooth neuronal type 2a2 charcot-marie-tooth neuropathy type 2a2 cmt2a2 hmsn2a2 mfn2 charcot-marie-tooth disease type 2 Charcot-Marie-Tooth disease type 2A2 ala dehydratase deficiency porphyria alad porphyria alad-related porphyria aladh deficiency delta-aminolevulinate dehydrase deficiency hereditary delta-aminolevulinic aciduria porphyria due to ala dehydratase deficiency porphyria due to alad deficiency porphyria due to delta-aminolevulinate dehydratase deficiency porphyria of doss Porphobilinogen synthase deficiency BSI Bathing suit ichthyosis SPG21 autosomal recessive spastic paraplegia 21 autosomal recessive spastic paraplegia type 21 hereditary spastic paraplegia 21 Mast syndrome SPG27 autosomal recessive spastic paraplegia 27 autosomal recessive spastic paraplegia type 27 hereditary spastic paraplegia type 27 Hereditary spastic paraplegia 27 DDHD1 autosomal recessive pure spastic paraplegia SPG28 autosomal recessive pure spastic paraplegia caused by mutation in DDHD1 autosomal recessive spastic paraplegia 28 autosomal recessive spastic paraplegia type 28 hereditary spastic paraplegia type 28 Hereditary spastic paraplegia 28 autosomal recessive spastic paraplegia 30 autosomal spastic paraplegia type 30 hereditary spastic paraplegia caused by mutation in kif1a hereditary spastic paraplegia type 30 kif1a hereditary spastic paraplegia spastic paraplegia 30, autosomal dominant spastic paraplegia 30a, autosomal dominant spg30 Hereditary spastic paraplegia 30 congenital hereditary stromal dystrophy cscd decorin associated congenital stromal corneal dystrophy dystrophia corneae parenchymatosa congenita witschel dystrophy Congenital stromal corneal dystrophy congenital hypoplasia of spleen congenital microsplenia congenital small spleen hypoplasia of spleen Familial isolated congenital asplenia congenital secretory diarrhea, sodium type defective na^+^/h^+^ exchange in jejunum and/or ileum na-h exchange deficiency non-syndromic congenital sodium diarrhea Congenital sodium diarrhea Lung fibrosis-immunodeficiency-46,xx gonadal dysgenesis syndrome GFM1 combined oxidative phosphorylation deficiency Hepatoencephalopathy due to COXPD1 combined oxidative phosphorylation deficiency caused by mutation in GFM1 combined oxidative phosphorylation deficiency type 1 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 deafness, nephritis, anorectal malformation syndrome deafness-nephritis-ano-rectal malformation syndrome hearing loss-nephritis-ano-rectal malformation syndrome Lowe-Kohn-Cohen syndrome combined oxidative phosphorylation defect type 5 combined oxidative phosphorylation deficiency caused by mutation in mrps22 combined oxidative phosphorylation deficiency type 5 coxpd5 coxpd5 - combined oxidative phosphorylation defect 5 mrps22 combined oxidative phosphorylation deficiency Hypotonia with lactic acidemia and hyperammonemia chromosome 17q11.2 duplication syndrome, 1.4-mb dup(17)(q11.2) grisart destree syndrome grisart-destree syndrome grisart-destrée syndrome nf1 microduplication syndrome trisomy 17q11.2 17q11.2 microduplication syndrome autosomal dominant distal juvenile spinal muscular atrophy type 1 distal hereditary motor neuropathy type 1 hmn i neuronopathy, distal hereditary motor, harding type i neuronopathy, distal hereditary motor, type 1 neuropathy, distal hereditary motor, harding type i spinal muscular atrophy, distal, juvenile, autosomal dominant, harding type i Neuronopathy, distal hereditary motor, autosomal dominant 1 dHMN2 dSMA2 distal spinal muscular atrophy type 2 Distal hereditary motor neuropathy type 2 dhmn5 - distal hereditary motor neuropathy type 5 distal hereditary motor neuropathy type 5 distal hereditary motor neuropathy type v distal hmn v distal spinal muscular atrophy type 5 hmn 5a neuronopathy, distal hereditary motor, harding type v neuronopathy, distal hereditary motor, harding type va neuropathy, distal hereditary motor, harding type va spinal muscular atrophy, distal, harding type v spinal muscular atrophy, distal, harding type va Neuronopathy, distal hereditary motor, type 5 autosomal recessive distal spinal muscular atrophy type 3 dhmn3 and dhmn4 distal hereditary motor neuropathy type 3 and type 4 distal spinal muscular atrophy type 3 distal spinal muscular atrophy, autosomal recessive 3 dsma3 hmn iii hmn iv neuronopathy, distal hereditary motor, harding type iii neuronopathy, distal hereditary motor, harding type iv neuropathy, distal hereditary motor, autosomal recessive 3 neuropathy, distal hereditary motor, harding type iv spinal muscular atrophy, chronic distal, autosomal recessive Neuronopathy, distal hereditary motor, autosomal recessive 3 atp7a (atpase copper transporting alpha) related distal motor neuropathy atp7a spinal muscular atrophy atp7a-related distal motor neuropathy neuronopathy, distal hereditary motor, x-linked neuropathy, distal hereditary motor, x-linked smax3 spinal muscular atrophy caused by mutation in atp7a spinal muscular atrophy, distal, x-linked 3, x-linked recessive spinal muscular atrophy, distal, x-linked type 3 x-linked dhmn type 3 x-linked dhmn3 x-linked distal hereditary motor neuropathy type 3 x-linked dsma type 3 x-linked dsma3 X-linked distal spinal muscular atrophy type 3 hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux hereditary sensory and autonomic neuropathy type ib hereditary sensory neuropathy type ib hsan with cough and gastroesophageal reflux hsan1b hsan1b - hereditary sensory and autonomic neuropathy type 1b neuropathy, hereditary sensory and autonomic, type ib neuropathy, hereditary sensory, type ib Hereditary sensory and autonomic neuropathy type 1b autosomal recessive sensory neuropathy with spastic paraplegia hsan with spastic paraplegia hsnsp mutilating hereditary sensory neuropathy with spastic paraplegia mutilating hsan with spastic paraplegia Hereditary sensory and autonomic neuropathy with spastic paraplegia autosomal dominant isolated growth hormone deficiency autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency congenital ighd type ii congenital isolated gh deficiency type ii congenital isolated growth hormone deficiency type ii growth hormone deficiency, isolated, type ii idiopathic growth hormone deficiency type ii ighd ii isolated growth hormone deficiency - autosomal dominant isolated growth hormone deficiency type ii Autosomal dominant isolated somatotropin deficiency dHMN7 distal spinal muscular atrophy with vocal cord paralysis Distal hereditary motor neuropathy type 7 intraosseous hemangioma osseous venous malformation Primary intraosseous venous malformation slowed nerve conduction velocity, AD Autosomal dominant slowed nerve conduction velocity acid-labile subunit, deficiency of Short stature due to primary acid-labile subunit deficiency Autosomal dominant macrothrombocytopenia bilateral microtia-hearing loss-cleft palate syndrome microtia with or without hearing impairment (ad) microtia, hearing impairment, and cleft palate (ar) Bilateral microtia-deafness-cleft palate syndrome palmoplantar hyperkeratosis, nagashima type palmoplantar keratoderma nagashima type ppk, nagashima type Palmoplantar keratoderma, nagashima type deafness, digenic gjb2/gjb6, autosomal recessive, digenic dominant deafness, digenic, gjb2/gjb3, autosomal recessive, digenic dominant dfnb 1 nonsyndromic hearing loss and deafness gjb2-related autosomal recessive nonsyndromic hearing loss gjb6-related dfnb 1 nonsyndromic hearing loss and deafness nonsyndromic hearing loss and deafness, dfnb1 Autosomal recessive nonsyndromic hearing loss 1A enlargement of half of face facial hemihyperplasia facial hemihypertophy friedreich's disease hemifacial enlargement hypertrophy of half of face increase in size of half of face overgrowth of half of face Hemifacial hypertrophy Isolated congenital hypoglossia/aglossia alar cleft alar rim cleft isolated cleft of the ala nasi isolated coloboma of the nose tessier number 1 cleft Paramedian nasal cleft facial clefting, oblique, type 1 Tessier number 4 facial cleft macrostomia tessier number 7 facial cleft transverse facial cleft Commissural facial cleft cleft lip and cleft of alveolar process of maxilla Cleft lip and alveolus hhrh hhrh - hereditary hypophosphatemic rickets with hypercalciuria hypercalciuric hypophosphatemic rickets hypophosphatemic hypercalciuric rickets hypophosphatemic rickets with hypercalciuria Autosomal recessive hypophosphatemic bone disease deafness and oligodontia syndrome hearing loss-oligodontia syndrome Deafness-oligodontia syndrome hereditary mixed polyposis hmps hmps - hereditary mixed polyposis syndrome Hereditary mixed polyposis syndrome serrated polyposis serrated polyposis syndrome Hyperplastic polyposis syndrome ciliary neurotrophic factor receptor-related disorder ciss crisponi syndrome sohar-crisponi syndrome Cold-induced sweating syndrome Craniorhiny autosomal dominant huntington-like neurodegenerative disorder early-onset prion disease with prominent psychiatric features hdl1 hdl1 - huntington disease-like 1 hln1 huntington disease-like type 1 huntington-like neurodegenerative disorder 1 neurodegenerative disease with chorea caused by mutation in prnp prnp neurodegenerative disease with chorea Huntington disease-like 1 HDL3 Huntington disease-like type 3 Huntington disease-like 3 alopecia, progressive neurological defect, endocrinopathy syndrome alopecia-progressive neurological defect-endocrinopathy syndrome ane (alopecia, progressive neurological defect, endocrinopathy) syndrome Ane syndrome Oculoauricular syndrome ebs with circinate migratory erythema ebs-migr epidermolysis bullosa simplex 2e, with migratory circinate erythema epidermolysis bullosa simplex with circinate migratory erythema Epidermolysis bullosa simplex with migratory circinate erythema ebs-pa ebs5c epidermolysis bullosa simplex co-occurrent with pyloric atresia epidermolysis bullosa simplex with pyloric atresia plec-related epidermolysis bullosa with pyloric atresia plec1-related epidermolysis bullosa with pyloric atresia Epidermolysis bullosa simplex 5c, with pyloric atresia spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability Spondyloepiphyseal dysplasia, reardon type Spondyloepiphyseal dysplasia tarda, kohn type spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome Spondyloepiphyseal dysplasia, macdermot type cdfe syndrome cdfes cntnap2-related dee cntnap2-related developmental and epileptic encephalopathy pitt-hopkins like syndrome 1 Cortical dysplasia-focal epilepsy syndrome 2p21 deletion syndrome Del(2)(p21) monosomy 2p21 2p21 microdeletion syndrome fluid-filled sac located in membrane surrounding brain or spinal cord Arachnoid cyst action myoclonus renal failure syndrome amrf amrf - action myoclonus renal failure epilepsy, progressive myoclonic 4, with or without renal failure epilepsy, progressive myoclonic, 4, with or without renal failure epilepsy, progressive myoclonic, 4, with renal failure epilepsy, progressive myoclonic, 4, without renal failure epm4 myoclonus nephropathy syndrome myoclonus-nephropathy syndrome progressive myoclonic epilepsy type 4 progressive myoclonus epilepsy type 4 Action myoclonus-renal failure syndrome rolandic epilepsy, speech dyspraxia syndrome Rolandic epilepsy-speech dyspraxia syndrome epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp rolandic epilepsy exercise-induced dystonia rolandic epilepsy, paroxysmal exercise-induced dystonia, writer's cramp syndrome Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome neurologic waardenburg shah syndrome neurologic waardenburg-shah syndrome pcwh pcwh - peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-hirschsprung disease-waardenburg syndrome ws4 plus PCWH syndrome X-linked intellectual disability-nail dystrophy-seizures syndrome intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessive intellectual disability, X-linked syndromic, Nascimento-type Syndromic X-linked intellectual disability Nascimento type cerebral-cerebellar-coloboma syndrome, x-linked, x-linked recessive x-linked cerebral, cerebellar, coloboma syndrome x-linked intellectual disability kroes type x-linked intellectual disability, kroes type X-linked cerebral-cerebellar-coloboma syndrome syndrome X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant X-linked dominant chondrodysplasia, Chassaing-Lacombe type mental retardation, x-linked, syndromic, van esch-o''driscoll type van esch-o'driscoll syndrome van esch-o'driscoll syndrome, x-linked recessive veods x-linked intellectual disability van esch type X-linked intellectual disability, van esch type craniofacioskeletal syndrome, X-linked recessive, X-linked dominant X-linked intellectual disability-craniofacioskeletal syndrome arhgef9-related hyperekplexia dee8 developmental and epileptic encephalopathy 8 early infantile epileptic encephalopathy 8 eiee8 epileptic encephalopathy, early infantile, 8 epileptic encephalopathy, early infantile, type 8 hyperekplexia-epilepsy syndrome Developmental and epileptic encephalopathy, 8 epiphyseal dysplasia, multiple, with myopia and deafness Multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia lowry type Multiple epiphyseal dysplasia, lowry type multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome Multiple epiphyseal dysplasia, al-gazali type multiple epiphyseal dysplasia with severe proximal femoral dysplasia Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia multiple epiphyseal dysplasia with miniepiphyses Multiple epiphyseal dysplasia, with miniepiphyses Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome metaphyseal chondrodysplasia kaitila type Metaphyseal chondrodysplasia, kaitila type fast kinase domains 2-related infantile mitochondrial encephalomyopathy FASTKD2-related infantile mitochondrial encephalomyopathy isolated osteopoikilosis (disease) nonsyndromic osteopoikilosis (disease) Isolated osteopoikilosis epilepsy, hot water hot water epilepsy Hot water reflex epilepsy spondyloepimetaphyseal dysplasia, abnormal dentition syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Congenital neuronal ceroid lipofuscinosis Late-infantile neuronal ceroid lipofuscinosis adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete congenital adrenal insuffiency with 46, xy sex reversal or 46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency p450scc deficiency xy sex reversal-adrenal failure xy sex reversal-adrenal failure syndrome Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 46,xy gonadal dysgenesis with minifascicular neuropathy 46xy gonadal dysgenesis with minifascicular neuropathy 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome TSFM combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in TSFM combined oxidative phosphorylation deficiency type 3 fatal mitochondrial disease due to COXPD3 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 ChC type 2 hereditary cryohydrocytosis type 2 sdCHC stomatin-deficient cryohydrocytosis Hereditary cryohydrocytosis with reduced stomatin congenital enterokinase deficiency congenital enteropathy due to enteropeptidase deficiency deficiency of enterokinase deficiency of enteropeptidase intestinal enterokinase deficiency intestinal enteropeptidase deficiency intestinal pseudo-trypsinogen deficiency Enterokinase deficiency Seborrhea-like dermatitis with psoriasiform elements Generalized basaloid follicular hamartoma syndrome capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome clapo (capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth) syndrome clapo syndrome, somatic CLAPO syndrome cernunnos deficiency cernunnos xlfd combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome imd124 immunodeficiency 124, severe combined nhej1 deficiency Cernunnos-XLF deficiency CD3 deficiency CD3-gamma deficiency CD3gamma deficiency IMD17 SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive immunodeficiency 17 immunodeficiency 17, CD3 gamma deficient immunodeficiency type 17 Combined immunodeficiency due to cd3gamma deficiency combined immunodeficiency due to calcium release activated calcium channel dysfunction combined immunodeficiency due to crac (calcium release activated calcium) channel dysfunction immune dysfunction due to t-cell inactivation due to calcium entry defect immune dysfunction with t-cell inactivation due to calcium entry defect Combined immunodeficiency due to crac channel dysfunction interleukin 2 receptor alpha chain deficiency interleukin-2 receptor alpha chain deficiency Immunodeficiency due to cd25 deficiency hearing loss-vitiligo-achalasia syndrome Deafness-vitiligo-achalasia syndrome deficiency of complement of terminal pathway immunodeficiency due to a c5 to c9 component complement deficiency immunodeficiency due to c5 to c9 component complement deficiency terminal complement pathway deficiency terminal component deficiency Immunodeficiency due to a late component of complement deficiency IL-7R IL-7Ralpha deficiency T-B+ SCID due to IL-7Ralpha deficiency T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency CD45 deficiency T-B+ SCID due to CD45 deficiency T-B+ severe combined immunodeficiency due to CD45 deficiency T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta cd59-mediated hemolytic anemia with or without immune-mediated polyneuropathy hemolytic anemia, cd59-mediated Primary cd59 deficiency Recurrent neisseria infections due to factor d deficiency filaminopathy filaminopathy (type) flnc myofibrillar myopathy (disease) myofibrillar myopathy (disease) caused by mutation in flnc myofibrillar myopathy type 5 myopathy, myofibrillar, type 5 Myofibrillar myopathy 5 SPG34 X-linked spastic paraplegia 34 X-linked spastic paraplegia type 34 hereditary spastic paraplegia type 34 spastic paraplegia 34, X-linked, X-linked recessive Hereditary spastic paraplegia 34 SPG37 autosomal dominant spastic paraplegia 37 autosomal dominant spastic paraplegia type 37 hereditary spastic paraplegia type 37 Hereditary spastic paraplegia 37 SPG38 autosomal dominant spastic paraplegia 38 autosomal dominant spastic paraplegia type 38 hereditary spastic paraplegia type 38 Hereditary spastic paraplegia 38 lis3 lissencephaly due to tuba1a (tubulin alpha 1a) mutation lissencephaly due to tubulin alpha 1a mutation Lissencephaly due to tuba1a mutation erythrocyte lactate transporter defect Metabolic myopathy due to lactate transporter defect THMA1 short stature-delayed bone age due to thyroid hormone metabolism deficiency Thyroid hormone metabolism, abnormal 1 cutis laxa-marfanoid syndrome neonatal cutis laxa with marfanoid phenotype Cutis laxa - Marfanoid syndrome blindness-scoliosis-arachnodactyly syndrome Blindness - scoliosis - arachnodactyly syndrome peripheral neuropathy, fiskerstrand type polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract PHARC syndrome erythrokeratodermia variabilis 3 erythrokeratodermia variabilis kamouraska type erythrokeratodermia variabilis, kamouraska type intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome mednik (mental retardation, enteropathy, deafness, peripheral neuropathy, ichtyosis, keratodermia) syndrome Mednik syndrome autosomal dominant pure spastic paraplegia caused by mutation in slc33a1 autosomal dominant spastic paraplegia 42 autosomal dominant spastic paraplegia type 42 hereditary spastic paraplegia type 42 slc33a1 autosomal dominant pure spastic paraplegia spastic paraplegia 42 spg42 Hereditary spastic paraplegia 42 kitamura's reticulate acropigmentation rapk reticular pigment anomaly of flexures Reticulate acropigmentation of kitamura dfna23 nonsyndromic hearing loss and deafness Autosomal dominant nonsyndromic hearing loss 23 distal anterior compartment myopathy Distal myopathy with anterior tibial onset fhl1-related emery-dreifuss muscular dystrophy, x-linked myopathy, x-linked, with postural muscle atrophy, x-linked recessive xmpma xmpma - x-linked myopathy with postural muscle atrophy X-linked myopathy with postural muscle atrophy IgG subclass deficiency with IgA subclass deficiency isolated IgG subclass deficiency kappa light chain deficiency kappa-chain deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency Familial angiolipomatosis cheiloschisis of upper lip cl - cleft lip cleft of upper lip congenital fissure of lip harelip isolated cleft lip isolated cleft lip (disease) labium leporinum nonsyndromic cleft lip (disease) Cleft upper lip alveolar cleft lip and palate cleft lip and palate cleft lip-alveolus-palate syndrome cleft palate and lip cleft palate with cleft lip flp Cleft lip/palate Familial clubfoot with or without associated lower limb anomalies ECO syndrome Endocrine-cerebro-osteodysplasia syndrome pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome BAG3 myofibrillar myopathy (disease) myofibrillar myopathy (disease) caused by mutation in BAG3 myofibrillar myopathy type 6 myopathy, myofibrillar, type 6 Myofibrillar myopathy 6 c3 inactivator deficiency complement component 3 inactivator deficiency complement factor 3i deficiency complement factor i deficiency complete factor i deficiency Factor I deficiency Immunodeficiency with factor h anomaly autosomal recessive distal spinal muscular atrophy type 4 autosomal recessive lower motor neuron disease with childhood onset distal spinal muscular atrophy 4 distal spinal muscular atrophy type 4 dsma4 neuropathy, distal hereditary motor, autosomal recessive 4 spinal muscular atrophy, distal, autosomal recessive, type 4 Neuronopathy, distal hereditary motor, autosomal recessive 4 autosomal dominant adult-onset proximal sma autosomal dominant late-onset spinal muscular atrophy finkel type autosomal dominant late-onset spinal muscular atrophy, finkel type finkel disease smafk - spinal muscular atrophy finkel type Adult-onset proximal spinal muscular atrophy, autosomal dominant encephalopathy, neonatal severe encephalopathy, neonatal severe, x-linked recessive mecp2-related severe neonatal encephalopathy severe congenital encephalopathy due to mecp2 (methyl-cpg binding protein 2) mutation severe congenital encephalopathy due to mecp2 mutation severe congenital encephalopathy due to methyl-cpg binding protein 2 mutation severe neonatal onset encephalopathy with microcephaly Severe neonatal-onset encephalopathy with microcephaly DRRD rhegmatogenous retinal detachment, autosomal dominant Autosomal dominant rhegmatogenous retinal detachment SLC1A3 hereditary episodic ataxia hereditary episodic ataxia caused by mutation in SLC1A3 Episodic ataxia type 6 Episodic ataxia type 7 inherited congenital spastic quadriplegia quadriplegic infantile cerebral palsy slowly progressive spastic quadriparesis spastic tetraplegia spastic tetraplegia cerebral palsy tetraplegic infantile cerebral palsy Spastic quadriplegic cerebral palsy growth retardation, developmental delay, facial dysmorphism Lethal polymalformative syndrome, boissel type cmyo12 Compton-North congenital myopathy macrocephaly-intellectual disability-autism syndrome Macrocephaly-autism syndrome CACNB4 hereditary episodic ataxia hereditary episodic ataxia caused by mutation in CACNB4 Episodic ataxia type 5 hadziselimovic syndrome microcephalus facio-cardio-skeletal syndrome hadziselimovic type microcephaly faciocardioskeletal syndrome microcephaly-faciocardioskeletal syndrome Microcephaly-facio-cardio-skeletal syndrome, hadziselimovic type acropachy hereditary acropachy hereditary clubbing hippocratic fingers isolated congenital acropachy isolated congenital nail clubbing Isolated congenital digital clubbing macrocephaly, alopecia, cutis laxa, scoliosis syndrome macrocephaly-alopecia-cutis laxa-scoliosis syndrome macs (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome macs syndrome rin2 deficiency tall forehead, sparse hair, skin hyperextensibility, scoliosis syndrome tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome RIN2 syndrome 17q21.31 microduplication syndrome dup(17)(q21.31) trisomy 17q21.31 Chromosome 17q21.31 duplication syndrome 17p13.3 duplication syndrome 17p13.3 microduplication syndrome chromosome 17p13.3 centromeric duplication syndrome dup(17)(p13.3) trisomy 17p13.3 Chromosome 17p13.3 duplication syndrome thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) Progressive demyelinating neuropathy with bilateral striatal necrosis hereditary hypotrichosis with recurrent skin vesicles syndrome Hereditary hypotrichosis with recurrent skin vesicles hereditary thrombophilia due to congenital hrg deficiency thrombophilia 11 due to hrg deficiency thrombophilia due to hrg deficiency Hereditary thrombophilia due to congenital histidine-rich (poly-l) glycoprotein deficiency SMDP1 interstitial lung disease due to SP-B dysfunction interstitial lung disease due to surfactant Protein B deficiency neonatal acute respiratory distress due to SP-B deficiency neonatal acute respiratory distress due to surfactant protein B deficiency pulmonary alveolar proteinosis, congenital, 1 surfactant metabolism dysfunction, pulmonary, type 1 Surfactant metabolism dysfunction, pulmonary, 1 Chronic respiratory distress with surfactant metabolism deficiency autosomal dominant dilated cardiomyopathy with sensorineural hearing loss cardiomyopathy, dilated, type 1j cmd1j dilated cardiomyopathy type 1j eya4 familial dilated cardiomyopathy eya4-related dilated cardiomyopathy familial dilated cardiomyopathy caused by mutation in eya4 neurosensory deafness with dilated cardiomyopathy neurosensory hearing loss with dilated cardiomyopathy sensorineural deafness with dilated cardiomyopathy sensorineural hearing loss with dilated cardiomyopathy Dilated cardiomyopathy 1J familial isolated arrhythmogenic right ventricular cardiomyopathy familial isolated arrhythmogenic ventricular cardiomyopathy familial isolated arrhythmogenic ventricular dysplasia familial isolated arvc familial isolated arvd familial isolated arvd (arrhythmogenic right ventricular dysplasia) Familial isolated arrhythmogenic right ventricular dysplasia xeroderma pigmentosum and cockayne syndrome complex xp/cs complex Xeroderma pigmentosum-cockayne syndrome complex Bleeding diathesis due to thromboxane synthesis deficiency hereditary sclerosing poikiloderma, weary type weary-kindler syndrome Hereditary sclerosing poikiloderma cerebral proliferative glomeruloid vasculopathy encephaloclastic proliferative vasculopathy fowler vasculopaty hydrocephaly/hydranencephaly due to cerebral vasculopathy proliferative vasculopathy and hydranencephaly/hydrocephaly Fowler syndrome combined immunodeficiency with faciooculoskeletal anomalies syndrome roifman chitayat syndrome roifman-chitayat syndrome, digenic Combined immunodeficiency with faciooculoskeletal anomalies arcl1c arcl1c - autosomal recessive cutis laxa type 1c autosomal recessive cutis laxa type 1c urban rifkin davis syndrome urban-rifkin-davis syndrome Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies familial ibsn familial ibsn (infantile bilateral striatal necrosis) familial infantile striatonigral degeneration familial infantile striatonigral necrosis hereditary infantile bilateral striatal necrosis Familial infantile bilateral striatal necrosis breast cancer susceptibility, autosomal dominant, somatic mutation breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation breast cancer, invasive ductal, autosomal dominant, somatic mutation breast cancer, lobular, somatic breast cancer, male, susceptibility to, autosomal dominant, somatic mutation breast cancer, protection against, autosomal dominant, somatic mutation breast cancer, somatic breast cancer, susceptibility to, autosomal dominant, somatic mutation familial breast cancer Hereditary breast carcinoma optic atrophy 7 tmem126a-related optic atrophy with or without extraocular features Autosomal recessive optic atrophy, opa7 type coronin-1a deficiency immunodeficiency 8 with lymphoproliferation immunodeficiency type 8 scid due to coro1a deficiency scid due to coronin-1a deficiency severe combined immunodeficiency due to coronin 1a deficiency severe combined immunodeficiency due to coronin-1a deficiency Severe combined immunodeficiency due to coro1a deficiency deafness with hypertrophic cardiomyopathy, autosomal dominant, type 22 progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome progressive sensorineural deafness and hypertrophic cardiomyopathy syndrome progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ADSD autosomal dominant striatal neurodegeneration Striatal degeneration, autosomal dominant charcot-marie-tooth disease, axonal, autosomal dominant, type 2m charcot-marie-tooth disease, axonal, type 2m charcot-marie-tooth disease, type 2m charcot-marie-tooth neuropathy, axonal, type 2m cmt2m Autosomal dominant charcot-marie-tooth disease type 2m patent arterial duct-bicuspid aortic valve-hand anomalies syndrome Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome ar-cmt2b5 autosomal recessive charcot-marie-tooth disease type 2b5 seoan due to nefl deficiency severe early-onset axonal neuropathy due to light neurofilament subunit deficiency severe early-onset axonal neuropathy due to nefl (neurofilament light) deficiency severe early-onset axonal neuropathy due to nefl deficiency Charcot-Marie-Tooth disease type 2B5 Spondylo-megaepiphyseal-metaphyseal dysplasia isolated hypogammaglobulinemia nonsyndromic agammaglobulinemia Isolated agammaglobulinemia eds/oi syndrome ehlers-danlos and osteogenesis imperfecta syndrome Ehlers-Danlos/osteogenesis imperfecta syndrome Red palms disease lane disease Erythema palmare hereditarium familial lentigines profusa familial multiple lentigines syndrome without systemic involvement Familial generalized lentiginosis aneurysm, intracranial berry familial aneurysmal subarachnoid haemorrhage familial aneurysmal subarachnoid hemorrhage familial berry aneurysm familial intracranial saccular aneurysm saccular cerebral aneurysm Intracranial berry aneurysm delta beta thalassemia f thalassemia Delta-beta-thalassemia beta thalassemia x-linked thrombocytopenia syndrome thrombocytopenia with beta-thalassemia, x-linked, x-linked recessive xltt Beta-thalassemia-x-linked thrombocytopenia syndrome acquired haemoglobin h disease acquired hbh disease alpha-thalassemia myelodysplasia syndrome, somatic alpha-thalassemia-myelodysplastic syndrome atmds Acquired hemoglobin H disease combined oxidative phosphorylation deficiency 6, X-linked recessive combined oxidative phosphorylation deficiency type 6 mitochondrial encephalomyopathy due to COXPD6 mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6 Severe x-linked mitochondrial encephalomyopathy 15q11-q13 duplication syndrome 15q11-q13 microduplication syndrome 15q11.2-q13.1 duplication syndrome 15q11q13 duplication syndrome autism susceptibility 4 dup(15)(q11q13) dup15q trisomy 15q11-q13 trisomy 15q11q13 15q11q13 microduplication syndrome atypical hcs atypical hypotonia cystinuria syndrome Atypical hypotonia-cystinuria syndrome Chuvash erythromatosis Chuvash type polycythemia VHL familial polycythemia Von Hippel-Lindau-dependent polycythemia autosomal recessive benign erythrocytosis erythrocytosis, familial, type 2 familial erythrocytosis 2 familial polycythemia caused by mutation in VHL Chuvash polycythemia mammary digital nail syndrome mdn (mammary digital nail) syndrome mdn syndrome onycho-digito-mammary syndrome Mammary-digital-nail syndrome 4q21 microdeletion syndrome Del(4)(q21) chromosome 4q21 deletion syndrome, isolated cases monosomy 4q21 Chromosome 4q21 deletion syndrome microcephaly and chromosomal instability without immunodeficiency nbs-like (nijmegen breakage syndrome-like) disorder nbs-like disorder nbsld Nijmegen breakage syndrome-like disorder deficiency of dimethylglycine dehydrogenase dimethylglycine dehydrogenase activity disease disorder of dimethylglycine dehydrogenase activity dmg dehydrogenase deficiency Dimethylglycine dehydrogenase deficiency hpmr hyperphosphatasemia with intellectual disability hyperphosphatasemia with mental retardation hyperphosphatasia with intellectual disability syndrome hyperphosphatasia with seizures and neurologic deficit mabry syndrome Hyperphosphatasia-intellectual disability syndrome mullerian duct failure and hyperandrogenism müllerian duct failure and hyperandrogenism Mullerian aplasia and hyperandrogenism cataract 47, juvenile, with microcornea juvenile cataract-microcornea-renal glycosuria syndrome Juvenile cataract-microcornea-renal glucosuria syndrome ectodermal dysplasia syndactyly syndrome ectodermal dysplasia-syndactyly syndrome type 1 edss edss1 Ectodermal dysplasia-syndactyly syndrome macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations macrocephaly, mental retardation, short stature, spastic paraplegia and cns malformations macrocephaly, short stature, paraplegia syndrome volcke soekarman syndrome volcke-soekarman syndrome Macrocephaly-short stature-paraplegia syndrome occult macular dystrophy, susceptibility to ocmd ocmd - occult macular dystrophy omd - occult macular dystrophy Occult macular dystrophy familial cold autoinflammatory syndrome caused by mutation in nlrp12 familial cold autoinflammatory syndrome type 2 fcas2 fcas2 - familial cold autoinflammatory syndrome type 2 naps12 nlr family pyrin domain containing 12-associated hereditary periodic fever syndrome nlrp12 familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome 2 isolated microphthalmia caused by mutation in mfrp isolated microphthalmia type 5 mcop5 mfrp isolated microphthalmia microphthalmia, isolated type 5 microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome microphthalmia-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome nanophtalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disk drusen posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen Isolated microphthalmia 5 ataxia, spastic, 1, autosomal dominant autosomal dominant spastic ataxia caused by mutation in vamp1 spastic ataxia type 1 spax1 spax1 - autosomal dominant spastic ataxia type 1 vamp1 autosomal dominant spastic ataxia Spastic ataxia 1 parietal foramina with cleidocranial dysostosis Parietal foramina with cleidocranial dysplasia pprca pprca - pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy MRE11 ataxia - telangiectasia-like disorder MRE11 ataxia-telangiectasia-like disorder ataxia - telangiectasia-like disorder caused by mutation in MRE11 ataxia-telangiectasia-like disorder caused by mutation in MRE11 Ataxia-telangiectasia-like disorder 1 ck syndrome, x-linked recessive x-linked intellectual disability, microcephaly, cortical malformation, thin habitus syndrome x-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome Ck syndrome 46,XY PGD 46,XY partial testicular dysgenesis 46,XY partial gonadal dysgenesis congenital plantar flexion contracture da10 da10 - distal arthrogryposis type 10 plantar flexion contracture short achilles tendon short tendo calcaneus Distal arthrogryposis type 10 hyperzincemia and hypercalprotectinemia Recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome constitutional mismatch repair deficiency syndrome mismatch repair cancer syndrome turcot's syndrome Turcot syndrome chromosome 7q11.23 deletion syndrome, distal, 1.2mb distal del(7)(q11.23) distal monosomy 7q11.23 Distal 7q11.23 microdeletion syndrome kagami ogata syndrome kagami-ogata syndrome mca due to 14q32.2 maternally expressed gene defect Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect degos genodermatosis degos genodermatosis "en cocardes" erythrokeratoderma en cocarde (degos) erythrokeratoderma en cocardes (degos syndrome) maladie de degos Erythrokeratoderma en cocardes infantile myopathy and lactic acidosis (fatal and non-fatal forms) lethal infantile mitochondrial disease limd limm Lethal infantile mitochondrial myopathy benign COX deficiency infantile reversible cytochrome C oxidase deficiency myopathy mitochondrial myopathy with reversible COX deficiency mitochondrial myopathy with reversible complex IV deficiency reversible infantile cytochrome C oxidase deficiency reversible infantile respiratory chain deficiency Mitochondrial myopathy with reversible cytochrome c oxidase deficiency mitochondrial dna depletion syndrome 2 myopathic type mitochondrial dna depletion syndrome type 2 mtdna depletion syndrome, myopathic form tk2-related mitochondrial deoxyribonucleic acid depletion syndrome myopathic form tk2-related mitochondrial dna depletion myopathy tk2-related mitochondrial dna depletion syndrome myopathic form tk2-related mitochondrial dna depletion syndrome, myopathic form Mitochondrial dna depletion syndrome, myopathic form memsa - myoclonic epilepsy myopathy sensory ataxia mitochondrial spinocerebellar ataxia with epilepsy mscae myoclonic epilepsy myopathy sensory ataxia scae Spinocerebellar ataxia with epilepsy coenzyme q10 deficiency, primary, type 2 hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome pdss1-related coenzyme q10 deficiency Deafness-encephaloneuropathy-obesity-valvulopathy syndrome renal tubulopathy with encephalopathy and liver failure syndrome Renal tubulopathy-encephalopathy-liver failure syndrome combined oxidative phosphorylation deficiency caused by mutation in mrps16 combined oxidative phosphorylation deficiency type 2 coxpd2 coxpd2 - combined oxidative phosphorylation defect type 2 mrps16 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 2 combined oxidative phosphorylation deficiency caused by mutation in tufm combined oxidative phosphorylation deficiency type 4 coxpd4 coxpd4 - combined oxidative phosphorylation defect type 4 tufm combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 4 c12orf65 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in c12orf65 combined oxidative phosphorylation deficiency type 7 coxpd7 coxpd7 - combined oxidative phosphorylation defect type 7 severe c12orf65-related combined oxidative phosphorylation defect severe c12orf65-related coxpd Combined oxidative phosphorylation defect type 7 adult-onset autosomal recessive sideroblastic anaemia adult-onset autosomal recessive sideroblastic anemia anemia, sideroblastic, 3, pyridoxine-refractory glrx5-related sideroblastic anaemia glrx5-related sideroblastic anemia sidba3 sideroblastic anemia 3, pyridoxine-refractory Sideroblastic anemia 3 ARSA sideroblastic anemia, autosomal recessive Autosomal recessive sideroblastic anemia 14q11.2 microdeletion syndrome Del(14)(q11.2) chromosome 14q11-q22 deletion syndrome, isolated cases monosomy 14q11.2 Chromosome 14q11-q22 deletion syndrome 16p11.2-p12.2 microdeletion syndrome 16p11.2p12.2 microdeletion syndrome Del(16)(p11.2p12.2) chromosome 16p12.2-p11.2 deletion syndrome, isolated cases monosomy 16p11.2-p12.2 monosomy 16p11.2p12.2 Chromosome 16p12.2-p11.2 deletion syndrome body mass index qtl16 chromosome 16p11.2 deletion syndrome, 220 kb chromosome 16p11.2 deletion syndrome, type 220kb distal del(16)(p11.2) distal monosomy 16p11.2 Distal 16p11.2 microdeletion syndrome 22q11.2 distal deletion syndrome distal 22q11.2 microdeletion syndrome distal del(22)(q11.2) distal monosomy 22q11.2 Chromosome 22q11.2 deletion syndrome, distal complex gkd complex gkd (complex glycerol kinase deficiency) del(x)(p21) glycerol kinase deficiency-contiguous gene syndrome monosomy xp21 xp21 contiguous gene deletion syndrome xp21 deletion syndrome xp21 microdeletion syndrome Chromosome xp21 deletion syndrome Xq27.3-q28 microduplication syndrome chromosome xq27.3-q28 duplication syndrome, X-linked recessive dup(X)(q27.3q28) trisomy Xq27.3-q28 trisomy Xq27.3q28 Xq27.3q28 duplication syndrome glycogen storage disease type 15 glycogen storage disease type xv glycogenosis type 15 glycogenosis type xv glycogenosis with severe cardiomyopathy due to glycogenin deficiency gsd type 15 gsd type xv gsd with severe cardiomyopathy due to glycogenin deficiency gsd xv Glycogen storage disease xv microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome mrcs (microcornea, rod-cone dystrophy, cataract, posterior staphyloma) syndrome MRCS syndrome hyperinsulinemic hypoglycemia due to insr deficiency hyperinsulinemic hypoglycemia due to insulin receptor deficiency hyperinsulinemic hypoglycemia, familial, type 5 hyperinsulinism due to glutamodehydrogenase deficiency Hyperinsulinism due to insr deficiency ANEC isolated ANE isolated acute necrotizing encephalopathy Acute necrotizing encephalopathy of childhood glycogen storage disease type 9a glycogen storage disease type 9c glycogen storage disease type ixa glycogen storage disease type ixc glycogenosis due to liver phosphorylase kinase deficiency glycogenosis type 9a glycogenosis type 9c glycogenosis type ixa glycogenosis type ixc gsd due to liver phosphorylase kinase deficiency gsd type 9a gsd type 9c gsd type ixa gsd type ixc liver phosphorylase kinase deficiency xlg Glycogen storage disease due to liver phosphorylase kinase deficiency alps type 4 alps type iv alps4 autoimmune lymphoproliferative syndrome caused by mutation in nras autoimmune lymphoproliferative syndrome type iv autoimmune lymphoproliferative syndrome, type iv nras autoimmune lymphoproliferative syndrome rald rald - ras-associated autoimmune leukoproliferative disease ras-associated autoimmune leukoproliferative disease ras-associated autoimmune leukoproliferative disorder ras-associated autoimmune lymphoproliferative syndrome type iv, somatic Autoimmune lymphoproliferative syndrome type 4 Bilateral polymicrogyria Gonzales-del Angel syndrome Delayed membranous cranial ossification amyotrophic lateral sclerosis with frontotemporal dementia frontotemporal dementia with als frontotemporal dementia with amyotrophic lateral sclerosis ftd-als ftd-mnd ftdals Frontotemporal dementia with motor neuron disease cdkn1b multiple endocrine neoplasia men (multiple endocrine neoplasia) 4 syndrome men4 multiple endocrine neoplasia caused by mutation in cdkn1b multiple endocrine neoplasia, type iv Multiple endocrine neoplasia type 4 SCA32 cerebellar ataxia with azoospermia and intellectual disability Spinocerebellar ataxia type 32 green jaundice Hyperbiliverdinemia Del(10)(q22.3q23.3) deletion 10q22.3q23.3 monosomy 10q22.3q23.3 Chromosome 10q23 deletion syndrome n-alpha-acetyltransferase n-terminal acetyltransferase deficiency ogden syndrome, x-linked recessive, x-linked dominant ogdns premature ageing appearance-developmental delay-cardiac arrhythmia syndrome premature aging appearance, developmental delay, cardiac arrhythmia syndrome premature aging appearance-developmental delay-cardiac arrhythmia syndrome x-linked malformation and infantile lethality syndrome Ogden syndrome late-onset spinal motor neuronopathy losmon Lower motor neuron syndrome with late-adult onset autosomal dominant hyperinsulinemic hypoglycemia due to sur1 deficiency autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency Autosomal dominant hyperinsulinism due to sur1 deficiency autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency dominant KATP hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinism due to kir6.2 deficiency diazoxide-resistant focal hyperinsulinism due to sulfonylurea receptor 1 deficiency hyperinsulinemic hypoglycemia due to sur1 deficiency, diazoxide-resistant focal form Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency Hereditary neutrophilia SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency immunodeficiency type 22 severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency Severe combined immunodeficiency due to lck deficiency holoprosencephaly minor form holoprosencephaly, minor form holoprosencephaly-like holoprosencéphalie, minor form hpe (holoprosencephaly) minor form hpe, minor form hpe-l microform hpe Microform holoprosencephaly gjc2 leukodystrophy hld2 hypomyelinating leukodystrophy type 2 leukodystrophy caused by mutation in gjc2 leukodystrophy, hypomyelinating, type 2 pelizaeus merzbacher like disease due to gjc2 mutation pelizaeus-merzbacher-like disease 1 pelizaeus-merzbacher-like disease due to gjc2 mutation pmld1 Hypomyelinating leukodystrophy 2 coenzyme q10 deficiency, primary, type 6 familial steroid-resistant nephrotic syndrome with sensorineural hearing loss Familial steroid-resistant nephrotic syndrome with sensorineural deafness alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy mfm2b myopathy, myofibrillar, 2b, infantile-onset Fatal infantile hypertonic myofibrillar myopathy transient neonatal cyanosis and anaemia due to Toms River Haemoglobin transient neonatal cyanosis and anemia due to Toms River Hemoglobin Hemoglobinopathy toms river familial progressive hyper and hypopigmentation familial progressive hyperpigmentation and hypopigmentation of skin fphh Familial progressive hyper- and hypopigmentation occipital MCD occipital malformations of cortical development Occipital pachygyria and polymicrogyria Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism moyamoya disease 4, X-linked recessive Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome recessive X-linked ichthyosis with extracutaneous manifestations syndrome associated with recessive X-linked ichthyosis syndromic RXLI syndromic X-linked ichthyosis Syndromic recessive x-linked ichthyosis SHCB SICI self-improving congenital ichthyosis Self-healing collodion baby AEI ichthyosis, annular epidermolytic Annular epidermolytic ichthyosis keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome creutzfeldt-jakob disease, variant, resistance to familial creutzfeldt-jakob fcjd (familial creutzfeldt-jakob disease) hereditary creutzfeldt jacob disease inherited cjd Inherited creutzfeldt-jakob disease multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome Larsen-like syndrome, B3GAT3 type craniosynostosis and dental anomalies syndrome kreiborg pakistani syndrome kreiborg-pakistani syndrome Craniosynostosis and dental anomalies 8q21.11 microdeletion syndrome Del(8)(q21.11) chromosome 8q21.11 deletion syndrome, isolated cases deletion 8q21.11 monosomy 8q21.11 Chromosome 8q21.11 deletion syndrome autosomal recessive cerebellar ataxia, psychomotor delay syndrome autosomal recessive cerebellar ataxia-psychomotor delay syndrome autosomal recessive spinocerebellar ataxia type 11 autosomal recessive syndromic cerebellar ataxia caused by mutation in syt14 scar11 spinocerebellar ataxia, autosomal recessive type 11 syt14 autosomal recessive syndromic cerebellar ataxia Autosomal recessive spinocerebellar ataxia 11 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in wwox autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox (ww domain containing oxidoreductase) deficiency autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox deficiency autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in wwox autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency autosomal recessive spinocerebellar ataxia type 12 scar12 spinocerebellar ataxia, autosomal recessive type 12 wwox autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome wwox autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Autosomal recessive spinocerebellar ataxia 12 ano10 autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia caused by mutation in ano10 autosomal recessive spinocerebellar ataxia type 10 scar10 scar10 - autosomal recessive spinocerebellar ataxia type 10 spinocerebellar ataxia, autosomal recessive type 10 Autosomal recessive spinocerebellar ataxia 10 congenital pontocerebellar hypoplasia type 7 non-syndromic pontocerebellar hypoplasia caused by mutation in toe1 pch7 pch7 - pontocerebellar hypoplasia type 7 pontocerebellar hypoplasia-46,xy disorder of sex development syndrome toe1 non-syndromic pontocerebellar hypoplasia Pontocerebellar hypoplasia type 7 1 alpha-hydroxylase deficiency 1-alpha-hydroxylase deficiency 25-hydroxycholecalciferol-1-hydroxylase deficiency calcidiol 1-monooxygenase defect hypocalcemic vitamin d-dependent rickets pddr - pseudovitamin d deficiency rickets pddri pseudo vitamin-d deficient rickets pseudo-vitamin-d-deficient rickets pseudodeficiency rickets pseudovitamin d deficiency rickets pseudovitamin d-deficient rickets pseudovitamin d-resistant rickets selective 1-alpha, 25-hydroxyvitamin d3 deficiency vdd1 vddi vddr i - vitamin d-dependent rickets type i vddr-i vddr1 vitamin d dependent rickets type i vitamin d-dependency type i vitamin d-dependent rickets type i vitamin d-dependent rickets, type i Vitamin D-dependent rickets, type 1 arhr autosomal recessive hereditary hypophosphatemic rickets autosomal recessive hypophosphatemic rickets hereditary hypophosphatemic rickets, autosomal recessive hypophosphatemic rickets, autosomal recessive Autosomal recessive hypophosphatemic vitamin D refractory rickets adk deficiency adk hypermethioninemia autosomal recessive intellectual disability 8 hypermethioninemia due to adenosine kinase deficiency hypermethioninemia encephalopathy due to adenosine kinase deficiency hypermethioninemia encephalopathy due to adk (adenosine kinase) deficiency hypermethioninemia encephalopathy due to adk deficiency hypermethioninemia encephalopathy due to deficiency of adenosine kinase Adenosine kinase deficiency developmental delay due to aldh6a1 deficiency developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency developmental delay due to mmsdh deficiency mmsdh (methylmalonate semialdehyde dehydrogenase) deficiency Methylmalonate semialdehyde dehydrogenase deficiency familial VUR hereditary vesicoureteral reflux (disease) Familial vesicoureteral reflux cmyo5 congenital myopathy 5 with cardiomyopathy early onset myopathy with fatal cardiomyopathy salih congenital muscular dystrophy salih myopathy Early-onset myopathy with fatal cardiomyopathy X-linked intellectual disability with alacrima and achalasia intellectual disability, X-linked, syndromic 17 intellectual disability-alacrima-achalasia syndrome mental retardation, X-linked, syndromic 17, X-linked recessive syndromic X-linked intellectual disability type 17 Syndromic X-linked intellectual disability 17 dysmorphism, conductive hearing loss, heart defect syndrome facial dysmorphism, conductive hearing loss, heart defect syndrome Dysmorphism-conductive hearing loss-heart defect syndrome autosomal recessive exfoliative ichthyosis ichthyosis exfoliativa Exfoliative ichthyosis dystrophia helsinglandica dystrophia smolandiensis epithelial recurrent erosion dystrophy of cornea ered recurrent hereditary corneal erosions Epithelial recurrent erosion dystrophy corneal dystrophy, endothelial, x-linked, x-linked dominant x-linked endothelial dystrophy of cornea xecd X-linked endothelial corneal dystrophy blepharophimosis-intellectual disability syndrome maat-kievit-brunner type blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type bmrs, maat-kievit-brunner type bmrs, mkb type ohdo syndrome, maat-kievit-brunner type ohdo syndrome, x-linked, x-linked recessive Blepharophimosis - intellectual disability syndrome, MKB type BMRS type V BMRS, Verloes type blepharophimosis-intellectual disability syndrome type V Blepharophimosis - intellectual disability syndrome, Verloes type anemia, congenital dyserythropoietic, type iva cda due to klf1 mutation cda iv cda type 4 cda type iv cda, type iva cdan4 congenital dyserythropoietic anaemia due to klf1 mutation congenital dyserythropoietic anemia due to klf1 mutation congenital dyserythropoietic anemia, type iv dyserythropoietic anemia, congenital, type iv Congenital dyserythropoietic anemia type 4 craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies Lethal occipital encephalocele-skeletal dysplasia syndrome autosomal dominant keratoconus with early-onset anterior polar cataract autosomal dominant keratoconus with early-onset anterior polar cataracts edict (endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning) syndrome endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome familial keratoconus with cataract ktcnct Edict syndrome distal dup(x)q(28) distal trisomy xq28 int22h1/int22h2 mediated-xq28 microduplication syndrome xq28 microduplication Distal xq28 microduplication syndrome hppd hppd (hypertelorism, preauricular sinus, punctual pits, deafness) syndrome hypertelorism, preauricular sinus, punctual pits, deafness syndrome hypertelorism, preauricular sinus, punctual pits, hearing loss syndrome hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome Hypertelorism-preauricular sinus-punctual pits-deafness syndrome hypoinsulinemic hypoglycemia and hemihypertrophy Hypoinsulinemic hypoglycemia and body hemihypertrophy david (deficiency in anterior pituitary function, variable immunodeficiency) syndrome david syndrome deficiency in anterior pituitary function, variable immunodeficiency syndrome deficiency in anterior pituitary function-variable immunodeficiency syndrome Deficiency in anterior pituitary function - variable immunodeficiency syndrome MIC-CAP syndrome MIC-CM syndrome microcephaly-cutaneous capillary malformation syndrome Microcephaly-capillary malformation syndrome inflammatory skin and bowel disease, neonatal Neonatal inflammatory skin and bowel disease ivemark ii syndrome ivemark's syndrome renal hepatic pancreatic dysplasia renohepaticopancreatic dysplasia rhpd Renal-hepatic-pancreatic dysplasia eds with progressive kyphoscoliosis, myopathy, and deafness eds with progressive kyphoscoliosis, myopathy, and hearing loss eds, kyphoscoliotic and hearing loss type ehlers-danlos syndrome with kyphoscoliosis, myopathy, and deafness ehlers-danlos syndrome with kyphoscoliosis, myopathy, and hearing loss ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ehlers-danlos syndrome, kyphoscoliotic and deafness type ehlers-danlos syndrome, kyphoscoliotic and hearing loss type fkbp14-related eds fkbp22-deficient eds keds-fkbp14 kyphoscoliotic eds due to fkbp22 deficiency kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency Ehlers-danlos syndrome, kyphoscoliotic type, 2 bcard syndrome bone abnormalities, cataract, arterial rupture, and deafness bone fragility-contractures-arterial rupture-deafness syndrome bone fragility-contractures-arterial rupture-hearing loss syndrome connective tissue disorder due to lh3 deficiency connective tissue disorder due to lysyl hydroxylase-3 deficiency Bone fragility with contractures, arterial rupture, and deafness transient infantile hypertriglyceridemia and fatty liver Transient infantile hypertriglyceridemia and hepatosteatosis anemia, hypochromic microcytic, with iron overload type 2 hypochromic microcytic anemia with iron overload 2 severe congenital hypochromic sideroblastic anaemia severe congenital hypochromic sideroblastic anemia Severe congenital hypochromic anemia with ringed sideroblasts acetyl coa transporter deficiency acetyl-coa transporter deficiency congenital cataract, deafness, severe developmental delay syndrome congenital cataract, hearing loss, severe developmental delay syndrome congenital cataract-deafness-severe developmental delay syndrome congenital cataract-hearing loss-severe developmental delay syndrome congenital cataracts, hearing loss, and neurodegeneration lethal neurodegenerative disorder due to copper transport defect Huppke-brendel syndrome ebs with nephropathy epidermolysis bullosa simplex with nephropathy nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome Epidermolysis bullosa simplex 7, with nephropathy and deafness autosomal systemic lupus erythematosus sleb16 systemic lupus erythematosus 16 systemic lupus erythematosus type 16 Autosomal systemic lupus erythematosus type 16 FACU PLCG2 familial cold autoinflammatory syndrome familial atypical cold urticaria familial cold autoinflammatory syndrome caused by mutation in PLCG2 familial cold autoinflammatory syndrome type 3 familial cold urticaria with common variable immunodeficiency plaid Familial cold autoinflammatory syndrome 3 marfan lipodystrophy syndrome marfanoid-progeroid-lipodystrophy syndrome Progeroid and marfanoid aspect-lipodystrophy syndrome autosomal recessive hypercalcemia, infantile familial infantile hypercalcemia with suppressed intact parathyroid hormone hypercalcemia disease of infancy hypercalcemia, infantile hypercalcemia, infantile, autosomal recessive infantile hypercalcemia infantile hypercalcemia disease infantile onset hypercalcemia disease Autosomal recessive infantile hypercalcemia CDCBM7 TUBB2B complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B complex cortical dysplasia with other brain malformations type 7 polymicrogyria due to TUBB2B mutation Complex cortical dysplasia with other brain malformations 7 odcrcs oligodontia-colorectal cancer syndrome tooth agenesis-colorectal cancer syndrome Oligodontia-cancer predisposition syndrome congenital ilneb (interstitial lung disease, nephrotic syndrome, epidermolysis bullosa) syndrome congenital ilneb syndrome congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome congenital nep syndrome congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome congenital nephrotic syndrome, epidermolysis bullosa, pulmonary disease syndrome congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome congenital nephrotic syndrome-epidermolysis bullosa-pulmonary disease syndrome ilneb syndrome interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome jeb with interstitial lung disease and nephrotic syndrome jeb with respiratory and renal involvement jeb-rr junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome ap5z1 hereditary spastic paraplegia autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48 hereditary spastic paraplegia caused by mutation in ap5z1 hereditary spastic paraplegia type 48 spastic paraplegia 48 spg48 Hereditary spastic paraplegia 48 congenital hereditary facial palsy with variable deafness congenital hereditary facial palsy with variable hearing loss congenital hereditary facial paralysis with variable deafness congenital hereditary facial paralysis with variable hearing loss syndrome congenital hereditary facial paralysis-variable deafness syndrome Congenital hereditary facial paralysis-variable hearing loss syndrome Porencephaly-microcephaly-bilateral congenital cataract syndrome dystonia type 21 dyt21 primary dystonia 21 primary dystonia dyt21 type Dystonia 21 hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency bckdkd Branched-chain keto acid dehydrogenase kinase deficiency deficiency of methylmalonyl-coa epimerase deficiency of methylmalonyl-coa racemase deficiency of methylmalonyl-coenzyme a epimerase deficiency of methylmalonyl-coenzyme a racemase mcee deficiency mcee-related methylmalonic acidemia methylmalonic acidemia due to methylmalonyl-coa racemase deficiency methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency methylmalonic aciduria due to methylmalonyl-coa racemase deficiency Methylmalonic acidemia due to methylmalonyl-coa epimerase deficiency pancreatic triglyceride lipase deficiency Pancreatic triacylglycerol lipase deficiency Pancreatic colipase deficiency combined pancreatic lipase and colipase deficiency Combined pancreatic lipase-colipase deficiency ab variant gm>2< gangliosidosis, type ab hexosaminidase activator deficiency tay-sachs disease ab variant Tay-Sachs disease, variant AB afg3l2 (afg3 like matrix aaa peptidase subunit 2) related spastic ataxia, myoclonic epilepsy, neuropathy syndrome afg3l2 autosomal recessive spastic ataxia afg3l2-related spastic ataxia, myoclonic epilepsy, neuropathy syndrome afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome afg3l2-related spastic ataxia-neuropathy syndrome autosomal recessive spastic ataxia caused by mutation in afg3l2 autosomal recessive spastic ataxia type 5 early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome spastic ataxia type 5 spax5 Spastic ataxia 5 microcephaly with impaired intellectual development and digital anomalies Jawad syndrome optic nerve edema, splenomegaly syndrome optic nerve edema-splenomegaly syndrome retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome rosah rosah syndrome Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome CRMCC cerebroretinal microangiopathy with calcfications and cysts cerebroretinal microangiopathy with calcifications and cysts Coats plus syndrome Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome chronic diarrhea due to guanylate cyclase 2c overactivity chronic diarrhoea due to guanylate cyclase 2c overactivity chronic infantile diarrhea due to guanylate cyclase 2c overactivity congenital diarrhea caused by mutation in gucy2c congenital diarrhea type 6 congenital diarrhoea caused by mutation in gucy2c congenital diarrhoea type 6 diarrhea type 6 diarrhoea type 6 gucy2c congenital diarrhea gucy2c congenital diarrhoea Congenital diarrhea 6 gucy2c meconium ileus intestinal obstruction in newborn due to guanylate cyclase 2c deficiency meconium ileus caused by mutation in gucy2c meconium ileus due to guanylate cyclase 2c deficiency Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome soft (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome soft syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome autosomal dominant aplastic anaemia and myelodysplasia autosomal dominant aplastic anemia and myelodysplasia bone marrow failure syndrome type 1 Autosomal dominant aplasia and myelodysplasia craniofacial dysplasia osteopenia syndrome facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome Craniofacial dysplasia - osteopenia syndrome 15q26 overgrowth syndrome 15q overgrowth syndrome arsal arsal - autosomal recessive spastic ataxia with leukoencephalopathy ataxia, spastic, 3, autosomal recessive autosomal recessive spastic ataxia caused by mutation in mars2 autosomal recessive spastic ataxia type 3 mars2 autosomal recessive spastic ataxia spastic ataxia type 3 spax3 spax3 - autosomal recessive spastic ataxia type 3 Spastic ataxia 3 atp13a2-related juvenile neuronal ceroid lipofuscinosis cln12 disease juvenile parkinsonism-neuronal ceroid lipofuscinosis Parkinsonism due to ATP13A2 deficiency combined oxidative phosphorylation defect type 10 combined oxidative phosphorylation deficiency caused by mutation in mto1 combined oxidative phosphorylation deficiency type 10 coxpd10 coxpd10 - combined oxidative phosphorylation defect type 10 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency mto1 combined oxidative phosphorylation deficiency Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency camta1-related disorder cecba cerebellar ataxia, nonprogressive, with intellectual disability non-progressive cerebellar ataxia with intellectual disability nonprogressive cerebellar ataxia with intellectual disability nonprogressive cerebellar atxia with intellectual disability Cerebellar dysfunction with variable cognitive and behavioral abnormalities cid due to stk4 deficiency imd110 mst1 deficiency stk4 deficiency t-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations tiiac Combined immunodeficiency due to stk4 deficiency Lethal arteriopathy syndrome due to fibulin-4 deficiency short stature, idiopathic familial SHOX-related short stature growth hormone deficiency, isolated partial short stature due to partial growth hormone receptor deficiency Short stature due to partial ghr deficiency ghrelin receptor deficiency short stature due to ghsr deficiency Short stature due to growth hormone secretagogue receptor deficiency SCAX5 X-linked spinocerebellar ataxia type 5 spinocerebellar ataxia, X-linked 5, X-linked recessive X-linked non progressive cerebellar ataxia cataract-congenital heart disease-neural tube defect syndrome Cataract - congenital heart disease - neural tube defect syndrome immunodeficiency 26 with neurologic abnormalities immunodeficiency 26, with or without neurologic abnormalities scid due to dna-pkcs deficiency Severe combined immunodeficiency due to dna-pkcs deficiency CVID13 Cid due to IKAROS deficiency IKZF1 syndrome with combined immunodeficiency combined immunodeficiency due to IKAROS deficiency immunodeficiency, common variable, 13 immunodeficiency, common variable, type 13 syndrome with combined immunodeficiency caused by mutation in IKZF1 Pancytopenia due to ikzf1 mutations CNM4 centronuclear myopathy 4 centronuclear myopathy type 4 myopathy, centronuclear, type 4 Congenital myopathy with internal nuclei and atypical cores familial cortical myoclonus familial myoclonus myoclonus, familial cortical Myoclonus, familial SPG53 VPS37A autosomal recessive complex spastic paraplegia autosomal recessive complex spastic paraplegia caused by mutation in VPS37A autosomal recessive spastic paraplegia 53 autosomal recessive spastic paraplegia type 53 hereditary spastic paraplegia type 53 Hereditary spastic paraplegia 53 autosomal recessive myogenic amc syne1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita syne1-related amc syne1-related arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita carney complex-trismus-pseudocamptodactyly syndrome Carney complex - trismus - pseudocamptodactyly syndrome brca2-related fanconi anemia fancd1 Fanconi anemia complementation group D1 Pure familial AML Pure familial acute myeloid leukaemia Pure familial acute myeloid leukemia familial AML hereditary acute myeloid leukaemia hereditary acute myeloid leukemia inherited AML Inherited acute myeloid leukemia acute myeloid leukaemia with mutated cebpa acute myeloid leukaemia with non-germline mutated cebpa acute myeloid leukemia with ccaat/enhancer binding protein alpha somatic mutation aml with cebpa somatic mutations non-familial acute myeloid leukaemia with mutated cebpa Acute myeloid leukemia with cebpa somatic mutations aars2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in aars2 combined oxidative phosphorylation deficiency type 8 coxpd8 coxpd8 - combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 8 combined oxidative phosphorylation deficiency caused by mutation in mrpl3 combined oxidative phosphorylation deficiency type 9 coxpd9 coxpd9 - combined oxidative phosphorylation defect type 9 mrpl3 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 9 combined oxidative phosphorylation deficiency caused by mutation in pnpt1 combined oxidative phosphorylation deficiency type 13 coxpd13 coxpd13 - combined oxidative phosphorylation defect type 13 pnpt1 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 13 combined oxidative phosphorylation deficiency caused by mutation in fars2 combined oxidative phosphorylation deficiency type 14 coxpd14 coxpd14 - combined oxidative phosphorylation defect type 14 fars2 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 14 combined oxidative phosphorylation deficiency caused by mutation in mtfmt combined oxidative phosphorylation deficiency type 15 coxpd15 coxpd15 - combined oxidative phosphorylation defect type 15 mtfmt combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 15 bull's eye macular dystrophy macular dystrophy, retinal, type 2 mcdr2 mcdr2 - retinal macular dystrophy type 2 Retinal macular dystrophy type 2 alazami syndrome microcephalic primordial dwarfism alazami type Microcephalic primordial dwarfism, alazami type NIN Seckel syndrome SCKL7 Seckel syndrome caused by mutation in NIN Seckel syndrome type 7 microcephalic primordial dwarfism, Dauber type Seckel syndrome 7 coenzyme q10 deficiency, primary, type 5 coq9-related coenzyme q10 deficiency Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome SPG41 autosomal dominant spastic paraplegia 41 autosomal dominant spastic paraplegia type 41 hereditary spastic paraplegia type 41 Hereditary spastic paraplegia 41 SPG36 autosomal dominant spastic paraplegia 36 autosomal dominant spastic paraplegia type 36 hereditary spastic paraplegia type 36 Hereditary spastic paraplegia 36 C19orf12 autosomal recessive complex spastic paraplegia SPG43 autosomal recessive complex spastic paraplegia caused by mutation in C19orf12 autosomal recessive spastic paraplegia 43 autosomal recessive spastic paraplegia type 43 hereditary spastic paraplegia type 43 Hereditary spastic paraplegia 43 SPG55 autosomal recessive spastic paraplegia 55 autosomal recessive spastic paraplegia type 55 hereditary spastic paraplegia type 55 Hereditary spastic paraplegia 55 DDHD2 autosomal recessive complex spastic paraplegia SPG54 autosomal recessive complex spastic paraplegia caused by mutation in DDHD2 autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54 hereditary spastic paraplegia type 54 Hereditary spastic paraplegia 54 GBA2 autosomal recessive complex spastic paraplegia SPG46 autosomal recessive complex spastic paraplegia caused by mutation in GBA2 autosomal recessive spastic paraplegia 46 autosomal recessive spastic paraplegia type 46 hereditary spastic paraplegia type 46 Hereditary spastic paraplegia 46 autosomal recessive complex spastic paraplegia caused by mutation in nt5c2 autosomal recessive spastic paraplegia 45 autosomal recessive spastic paraplegia type 45 autosomal recessive spastic paraplegia type 65 hereditary spastic paraplegia type 45 nt5c2 autosomal recessive complex spastic paraplegia spastic paraplegia 45 spg45 spg65 Hereditary spastic paraplegia 45 autosomal recessive complex spastic paraplegia caused by mutation in gjc2 autosomal recessive spastic paraplegia 44 gjc2 autosomal recessive complex spastic paraplegia hereditary spastic paraplegia type 44 spastic paraplegia 44 spg44 Hereditary spastic paraplegia 44 spastic paraplegia, optic atrophy, and neuropathy spastic paraplegia, optic atrophy, neuropathy syndrome spastic paraplegia, optic atropy, and neuropathy syndrome spastic paraplegia-optic atrophy-neuropathy syndrome spoan spoan (spastic paraplegia, optic atrophy, neuropathy) syndrome spoan syndrome Spastic paraplegia, optic atropy, and neuropathy autosomal recessive spastic paraplegia 56 autosomal recessive spastic paraplegia type 56 cyp2u1 hereditary spastic paraplegia hereditary spastic paraplegia caused by mutation in cyp2u1 hereditary spastic paraplegia type 56 spastic paraplegia 56, autosomal recessive, with or without pseudoxanthoma elasticum spg56 Hereditary spastic paraplegia 56 EPM10 epilepsy, progressive myoclonic, 10 epilepsy, progressive myoclonic, type 10 Early-onset lafora body disease t-cell immunodeficiency due to ras homolog family member h deficiency t-cell immunodeficiency due to rhoh (ras homolog family member h) deficiency t-cell immunodeficiency due to rhoh deficiency T-cell immunodeficiency with epidermodysplasia verruciformis sinoatrial node dysfunction and hearing loss Sinoatrial node dysfunction and deafness MRXS32 intellectual developmental disorder, X-linked syndromic 32, X-linked recessive intellectual disability, X-linked, syndromic 32 intellectual disability, X-linked, syndromic type 32 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome aplaid aplaid - autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation autoinflammation phospholipase c gamma 2 associated antibody deficiency and immune dysregulation autoinflammation, antibody deficiency, and immune dysregulation autoinflammation, antibody deficiency, and immune dysregulation syndrome Autoinflammation-plcg2-associated antibody deficiency-immune dysregulation combined oxidative phosphorylation deficiency caused by mutation in rmnd1 combined oxidative phosphorylation deficiency type 11 coxpd11 coxpd11 - combined oxidative phosphorylation defect type 11 rmnd1 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 11 chmp1a non-syndromic pontocerebellar hypoplasia congenital pontocerebellar hypoplasia type 8 non-syndromic pontocerebellar hypoplasia caused by mutation in chmp1a pch8 pch8 - pontocerebellar hypoplasia type 8 pontocerebellar hypoplasia due to chmp1a (charged multivesicular body protein 1a) mutation pontocerebellar hypoplasia due to chmp1a mutation Pontocerebellar hypoplasia type 8 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis tall stature-long halluces-multiple extra-epiphyses syndrome tall stature-scoliosis-macrodactyly of the halluces syndrome Tall stature-scoliosis-macrodactyly of the great toes syndrome developmental delay with ASD and gait instability intellectual developmental disorder, autosomal recessive 38 intellectual disability, autosomal recessive type 38 Developmental delay with autism spectrum disorder and gait instability adniv capn5 vitreoretinopathy capn5-related vitreoretinopathy retinitis proliferans vitreoretinopathy, neovascular inflammatory vitreoretinopathy, neovascular inflammatory, autosomal dominant vrni Autosomal dominant neovascular inflammatory vitreoretinopathy microcephalic primordial dwarfism, Walsh type Microcephalic primordial dwarfism due to znf335 deficiency central hypothyroidism and testicular enlargement chte hypothyroidism central and testicular enlargement hypothyroidism, central, and testicular enlargement, x-linked recessive hypothyroidism, central, with testicular enlargement igsf1 deficiency syndrome x-linked central congenital hypothyroidism with late-onset macroorchidism X-linked central congenital hypothyroidism with late-onset testicular enlargement DGAT1 congenital diarrhea DGAT1 congenital diarrhoea congenital chronic diarrhea with exudative enteropathy congenital chronic diarrhea with protein-losing enteropathy congenital chronic diarrhoea with exudative enteropathy congenital chronic diarrhoea with protein-losing enteropathy congenital diarrhea caused by mutation in DGAT1 congenital diarrhoea caused by mutation in DGAT1 diarrhea 7, protein-losing enteropathy type diarrhea type 7 diarrhoea 7, protein-losing enteropathy type diarrhoea type 7 Congenital diarrhea 7 with exudative enteropathy PEOB4 adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 4 Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome microcephaly, cerebellar hypoplasia, congenital heart conduction defect syndrome microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome zaki gleeson syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome adult-onset cpeo (chronic progressive external ophthalmoplegia) with mitochondrial myopathy adult-onset cpeo with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy LPG Lipoprotein glomerulopathy 5p13 microduplication syndrome chromosome 5p13 duplication syndrome, isolated cases dup(5)(p13) trisomy 5p13 Chromosome 5p13 duplication syndrome autosomal recessive severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency g6pc3 deficiency neutropenia, severe congenital 4, autosomal recessive scn4 severe congenital neutropenia type 4 severe congenital neutropenia, pulmonary hypertension, superficial venous angiectasis syndrome severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Immunodeficiency due to masp-2 deficiency Immunodeficiency due to ficolin3 deficiency congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome elovl4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis elovl4-related neuro ichthyosis ichthyosis, spastic quadriplegia, and impaired intellectual development Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ataxie spinocérébelleuse à début infantile avec retard psychomoteur autosomal recessive cerebellar ataxia caused by mutation in sptbn2 autosomal recessive cerebellar ataxia, cognitive defect syndrome autosomal recessive cerebellar ataxia-cognitive defect syndrome autosomal recessive spinocerebellar ataxia type 14 infantile-onset spinocerebellar ataxia-psychomotor delay syndrome scar14 sparca sparca1 spectrin-associated autosomal recessive cerebellar ataxia type 1 spinocerebellar ataxia, autosomal recessive type 14 sptbn2 autosomal recessive cerebellar ataxia Autosomal recessive spinocerebellar ataxia 14 MGME1 mitochondrial DNA depletion syndrome PEO-myopathy-emaciation syndrome mitochondrial DNA depletion syndrome caused by mutation in MGME1 mitochondrial DNA depletion syndrome type 11 mitochondrial DNA maintenance syndrome due to MGME1 deficiency mtDNA maintenance syndrome due to MGME1 deficiency Mitochondrial dna depletion syndrome 11 dna2-related mitochondrial dna deletion syndrome mitochondrial dna deletion syndrome with limb-girdle weakness mtdna deletion syndrome with limb-girdle weakness mtdna deletion syndrome with progressive myopathy progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant type 6 Mitochondrial dna deletion syndrome with progressive myopathy autosomal recessive limb girdle muscular dystrophy due to ispd deficiency autosomal recessive limb girdle muscular dystrophy type 2u autosomal recessive limb-girdle muscular dystrophy caused by mutation in ispd autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency ispd autosomal recessive limb-girdle muscular dystrophy ispd-related lgmd r20 ispd-related limb-girdle muscular dystrophy r20 lgmd type 2u lgmd2u lgmd2u - autosomal recessive limb girdle muscular dystrophy type 2u limb-girdle muscular dystrophy type 2u mddgc7 muscular dystrophy limb-girdle type 2u muscular dystrophy-dystroglycanopathy (limb-girdle) type c7 Autosomal recessive limb-girdle muscular dystrophy type 2u ASD due to AUTS2 deficiency AUTS2 syndrome intellectual developmental disorder, autosomal dominant 26 intellectual disability type 26 Autism spectrum disorder due to auts2 deficiency epilepsy, myoclonic, infantile familial infantile myoclonus epilepsy fime fime - familial infantile myoclonic epilepsy myoclonic epilepsy, infantile, familial Familial infantile myoclonic epilepsy PMED progressive myoclonus epilepsy with dystonia Progressive myoclonic epilepsy with dystonia spastic paraplegia 79b, autosomal recessive Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome hbid hereditary benign corneal intraepithelial dyskeratosis witkop-von sallman syndrome Hereditary benign intraepithelial dyskeratosis MSPC palmoplantar carcinoma, multiple self-healing Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome cobblestone lissencephaly without muscular or eye involvement lissencephaly type 2 without muscular or eye involvement lissencephaly type 2 without muscular or ocular involvement lissencephaly type 5 Cobblestone lissencephaly without muscular or ocular involvement fils syndrome Facial dysmorphism-immunodeficiency-livedo-short stature syndrome retinol dystrophy-iris coloboma-comedogenic acne syndrome Progressive retinal dystrophy due to retinol transport defect LRMDA oculocutaneous albinism OCA7 oculocutaneous albinism caused by mutation in LRMDA Oculocutaneous albinism type 7 agc1 deficiency dee39 developmental and epileptic encephalopathy 39 developmental and epileptic encephalopathy 39 with leukodystrophy early infantile epileptic encephalopathy caused by mutation in slc25a12 eiee39 epileptic encephalopathy with global cerebral demyelination epileptic encephalopathy, early infantile, 39 mitochondrial aspartate-glutamate carrier 1 deficiency slc25a12 early infantile epileptic encephalopathy Developmental and epileptic encephalopathy, 39 familial localized cutaneous amyloidosis fplca hereditary primary cutaneous amyloidosis Familial primary localized cutaneous amyloidosis D,L-2-HGA D,L-2-hydroxyglutaric acidemia combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria D,L-2-hydroxyglutaric aciduria ank3-related intellectual disability-sleep disturbance syndrome intellectual developmental disorder, autosomal recessive 37 intellectual disability, autosomal recessive type 37 mental retardation, autosomal recessive, 37 Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Del(19)(p13.13) monosomy 19p13.13 Chromosome 19p13.13 deletion syndrome macroblepharon-ectropion-hypertelorism-macrostomia syndrome Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Short ulna-dysmorphism-hypotonia-intellectual disability syndrome SCID due to CARD11 deficiency immunodeficiency 11A immunodeficiency type 11 Severe combined immunodeficiency due to CARD11 deficiency combined immunodeficiency due to il21r deficiency immunodeficiency type 56 Cryptosporidiosis-chronic cholangitis-liver disease syndrome synactyly, camptodactyly and clinodactyly of fifth fingers, bifid halluces syndrome synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome encephalopathy, progressive, with lipodystrophy severe neurodegenerative syndrome due to bscl2 deficiency Severe neurodegenerative syndrome with lipodystrophy fetal akinesia, cerebral and retinal hemorrhage syndrome lethal congenital contracture syndrome type 5 Fetal akinesia-cerebral and retinal hemorrhage syndrome hbsl hbsl - hypomyelination, brain stem, spinal cord, leg spasticity Hypomyelination with brain stem and spinal cord involvement and leg spasticity fatal multiple mitochondrial dysfunctions syndrome caused by mutation in iba57 iba57 (iron-sulfur cluster assembly factor iba57) deficiency iba57 deficiency iba57 fatal multiple mitochondrial dysfunctions syndrome mmds3 - multiple mitochondrial dysfunctions syndrome type 3 Multiple mitochondrial dysfunctions syndrome 3 autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome bbis bbis - beaulieu boycott innes syndrome beaulieu boycott innes syndrome tho complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome autosomal dominant childhood-onset proximal spinal muscular atrophy lower extremity-predominant autosomal dominant proximal spinal muscular atrophy smaled smaled - spinal muscular atrophy, lower extremity, dominant Spinal muscular atrophy with lower extremity predominance hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome intellectual disability with strabismus syndrome intellectual disability, autosomal recessive type 36 nedbgf Intellectual disability-strabismus syndrome mitochondrial deoxyribonucleic acid depletion syndrome hepatocerebrorenal form mitochondrial dna depletion syndrome hepatocerebrorenal form mtdna depletion syndrome, hepatocerebrorenal form Mitochondrial dna depletion syndrome, hepatocerebrorenal form brain white matter edema clcn2 (chloride voltage-gated channel 2) related leukoencephalopathy leukoencephalopathy with white matter edema Leukoencephalopathy with mild cerebellar ataxia and white matter edema autosomal dominant intellectual disability 21 ctcf-related neurodevelopmental disorder intellectual developmental disorder, autosomal dominant 21 intellectual disability, autosomal dominant type 21 mrd21 Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome parkinsonism with spasticity, x-linked, x-linked recessive x-linked parkinsonism with spasticity syndrome xpds xpds - x-linked parkinsonism with spasticity syndrome X-linked parkinsonism-spasticity syndrome Childhood-onset autosomal recessive myopathy with external ophthalmoplegia hyperuricemia, pulmonary hypertension, renal failure, and alkalosis hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome Cantu craniofaciofrontodigital syndrome Craniofaciofrontodigital syndrome anemia, x-linked, with/without neutropenia and/or platelet abnormalities, x-linked recessive x-linked dyserythropoietic anemia with abnormal platelets and neutropenia X-linked dyserythropoietic anemia with abnormal platelets and neutropenia colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome Colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome noonan syndrome-like disorder with jmml noonan syndrome-like disorder with juvenile myelomonocytic leukaemia noonan syndrome-like disorder with juvenile myelomonocytic leukemia noonan syndrome-like disorder without juvenile myelomonocytic leukemia noonan-like syndrome CBL-related disorder charcot-marie-tooth disease type 4 caused by mutation in sbf1 charcot-marie-tooth disease with focally folded myelin charcot-marie-tooth disease, demyelinating, type 4b3 charcot-marie-tooth neuropathy type 4b3 charcot-marie-tooth neuropathy type 4b3 (cmt4b3) cmt4b3 sbf1 charcot-marie-tooth disease type 4 Charcot-Marie-Tooth disease type 4B3 15q26.3 microdeletion syndrome WMS4 Weill-Marchesani syndrome 4 Weill-Marchesani-like syndrome ichthyosis-short stature-brachydactyly-microspherophakia syndrome Weill-Marchesani 4 syndrome, recessive infantile epileptic-dyskinetic encephalopathy Infantile epileptic dyskinetic encephalopathy Intellectual disability-brachydactyly-pierre robin syndrome congenital disorder of glycosylation due to pigt deficiency intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome lfss light fixation seizure syndrome mcahs type 3 multiple congenital anomalies-hypotonia-seizures syndrome type 3 multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in pigt pigt multiple congenital anomalies/dysmorphic syndrome-intellectual disability pigt-cdg Multiple congenital anomalies-hypotonia-seizures syndrome 3 congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome severe congenital neutropenia 5, autosomal recessive vps45 deficiency Congenital neutropenia-myelofibrosis-nephromegaly syndrome SIFD SIFD syndrome Congenital sideroblastic anemia-b-cell immunodeficiency-periodic fever-developmental delay syndrome CMTRIC Charcot-Marie-Tooth disease caused by mutation in PLEKHG5 Charcot-Marie-Tooth disease recessive intermediate type C Charcot-Marie-Tooth disease, recessive Intermediate type C PLEKHG5 Charcot-Marie-Tooth disease RI-CMT type C RI-CMTC autosomal recessive intermediate Charcot-Marie-Tooth disease type C Charcot-Marie-Tooth disease recessive intermediate C developmental delay-facial dysmorphism syndrome due to med13l deficiency impaired intellectual development and distinctive facial features with or without cardiac defects med13l-related intellectual disability syndrome mrfacd Cardiac anomalies - developmental delay - facial dysmorphism syndrome combined oxidative phosphorylation deficiency caused by mutation in elac2 combined oxidative phosphorylation deficiency type 17 coxpd17 coxpd17 - combined oxidative phosphorylation defect type 17 elac2 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 17 AMPD2 non-syndromic pontocerebellar hypoplasia PCH9 non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2 Pontocerebellar hypoplasia type 9 aldosterone-secreting adenoma with seizures and neurological abnormalities apa with seizures and neurological abnormalities complex neurodevelopmental disorder with or without aldosteronism conn adenoma with seizures and neurological abnormalities primary hyperaldosteronism-seizures-neurological abnormalities syndrome Aldosterone-producing adenoma with seizures and neurological abnormalities cadds - contiguous abcd1 dxs1357e deletion syndrome chromosome xq28 deletion syndrome contiguous abcd1 dxs1357e deletion syndrome deafness, dystonia, and cerebral hypomyelination, x-linked recessive severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome zellweger-like contiguous gene deletion syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MMCAT syndrome microcornea-myopic chorioretinal atrophy-telecanthus syndrome Microcornea-myopic chorioretinal atrophy congenital erythroderma, hypotrichosis, recurrent infections, multiple food allergies syndrome congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, recurrent infections, and multiple food allergies severe dermatitis, multiple allergies, metabolic wasting syndrome Severe dermatitis-multiple allergies-metabolic wasting syndrome Diffuse palmoplantar keratoderma with painful fissures Focal palmoplantar keratoderma with joint keratoses ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome poretti boltshauser syndrome Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome OCA5 Oculocutaneous albinism type 5 OCA6 Oculocutaneous albinism type 6 mmf mmf - macrophagic myofasciitis Macrophagic myofasciitis CDG syndrome type Iw CDG-Iw CDG1W STT3A-CDG congenital disorder of glycosylation type 1w congenital disorder of glycosylation type Iw congenital disorder of glycosylation, type Iw, autosomal recessive STT3A-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type ix cdg syndrome type ix cdg-ix cdg1x congenital disorder of glycosylation type 1x congenital disorder of glycosylation type ix stt3b-cdg stt3b-cdg (congenital disorder of glycosylation) STT3B-congenital disorder of glycosylation arthrogryposis, impaired intellectual development, and seizures autism spectrum disorder-epilepsy-arthrogryposis syndrome slc35a3-cdg Autism spectrum disorder - epilepsy - arthrogryposis syndrome CMD with intellectual disability CMD-MR Congenital muscular dystrophy with intellectual disability meb disease with bilateral multicystic leucodystrophy muscle eye brain disease with bilateral multicystic leucodystrophy muscle eye brain disease with bilateral multicystic leukodystrophy Muscle-eye-brain disease with bilateral multicystic leucodystrophy hypotonia, speech impairment, severe cognitive delay syndrome hypotonia-speech impairment-severe cognitive delay syndrome ihprf ihprf (infantile hypotonia, psychomotor retardation, characteristic facies) syndrome ihprf syndrome infantile hypotonia-psychomotor retardation-characteristic facies syndrome Hypotonia, infantile, with psychomotor retardation and characteristic facies mona (multicentric osteolysis nodulosis arthropathy) spectrum mona spectrum multicentric osteolysis-nodulosis-arthropathy spectrum nao syndrome nodulosis-arthropathy-osteolysis syndrome torg-winchester syndrome Multicentric osteolysis nodulosis arthropathy spectrum intellectual developmental disorder, autosomal recessive 39 intellectual disability, autosomal recessive type 39 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome X-linked osteoporosis with fractures SFXN4 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in SFXN4 combined oxidative phosphorylation deficiency type 18 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome autosomal recessive demyelinating charcot-marie-tooth disease type 4k autosomal recessive demyelinating charcot-marie-tooth neuropathy type 4k charcot-marie-tooth disease type 4 caused by mutation in surf1 charcot-marie-tooth disease, demyelinating, type 4k cmt4k surf1 charcot-marie-tooth disease type 4 surf1, cytochrome c oxidase assembly factor related charcot-marie-tooth disease type 4 surf1-related charcot-marie-tooth disease type 4 surf1-related cmt4 surf1-related severe demyelinating charcot-marie-tooth disease Charcot-Marie-Tooth disease type 4K congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Atypical juvenile parkinsonism Brunner-Winter syndrome type 1 FGLDS1 FS1 Feingold syndrome caused by mutation in MYCN MMT type 1 MODED syndrome type 1 MYCN Feingold syndrome ODED syndrome type 1 digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1 digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum type 1 microcephaly-digital anomalies-normal intelligence syndrome type 1 microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1 microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 oculo-digito-esophageal-duodenal syndrome type 1 Feingold syndrome type 1 intellectual developmental disorder, autosomal recessive 41 intellectual disability, autosomal recessive type 41 Macrocephaly-developmental delay syndrome fhonda syndrome foveal hypoplasia 2 with or without microphthalmia or coloboma foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis foveal hypoplasia type 2 foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome SAMS syndrome short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome familial isolated prolactin receptor deficiency hereditary hyperprolactinemia (disease) Familial hyperprolactinemia autosomal recessive cerebellar ataxia caused by mutation in snx14 autosomal recessive spinocerebellar ataxia type 20 intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome scar20 scar20 - autosomal recessive spinocerebellar ataxia type 20 snx14 autosomal recessive cerebellar ataxia spinocerebellar ataxia, autosomal recessive type 20 Autosomal recessive spinocerebellar ataxia 20 jbts with jatd joubert syndrome with jatd joubert syndrome with jatd (jeune asphyxiating thoracic dystrophy) Joubert syndrome with Jeune asphyxiating thoracic dystrophy autosomal dominant axonal charcot-marie-tooth disease type 2u autosomal dominant charcot-marie-tooth disease type 2 due to mars (methionyl-trna synthetase) mutation autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation autosomal dominant charcot-marie-tooth disease type 2u charcot-marie-tooth disease type 2 caused by mutation in mars charcot-marie-tooth neuropathy type 2u cmt2u mars charcot-marie-tooth disease type 2 Charcot-Marie-Tooth disease axonal type 2U PNMHH peripheral neuropathy-myopathy-hoarseness-deafness syndrome Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome retinal dystrophy with inner nuclear layer and ganglion cell anomalies Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome pgbm1 pgbm1 - polyglucosan body myopathy type 1 polyglucosan body myopathy 1 with or without immunodeficiency polyglucosan body myopathy without immunodeficiency polyglucosan body myopathy, early-onset, with or without immunodeficiency Polyglucosan body myopathy type 1 ataxia, spastic, 2, autosomal recessive autosomal recessive spastic ataxia type 2 autosomal spastic ataxia type 2 kif1c spastic ataxia spastic ataxia caused by mutation in kif1c spastic ataxia type 2 spax2 spg58 Spastic ataxia 2 intellectual developmental disorder, autosomal recessive 40 intellectual disability, autosomal recessive type 40 nedfcf neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity Microcephaly-thin corpus callosum-intellectual disability syndrome imd7 immunodeficiency 7, tcr-alpha/beta deficient t-cell receptor alpha/beta deficiency tcr-alpha-beta+ t-cell deficiency TCR-alpha-beta-positive T-cell deficiency immunodeficiency type 12 Combined immunodeficiency due to malt1 deficiency intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome alpha-b crystallin-related late-onset myopathy alpha-b crystallinopathy autosomal dominant distal myopathy caused by mutation in cryab cryab autosomal dominant distal myopathy late-onset distal crystallinopathy myofibrillar myopathy type 2 myopathy, myofibrillar, 2a, adult-onset myopathy, myofibrillar, type 2 Myofibrillar myopathy 2 distal myopathy type 3 finnish upper limb onset distal myopathy mpd3 Finnish upper limb-onset distal myopathy distal anoctaminopathy miyoshi muscular dystrophy type 3 mmd3 mmd3 - miyoshi muscular dystrophy type 3 Miyoshi muscular dystrophy 3 Male infertility with teratozoospermia due to single gene mutation Trilineage bone marrow failure-developmental delay syndrome bone marrow failure syndrome type 2 Pancytopenia-developmental delay syndrome ARL6IP1 autosomal recessive complex spastic paraplegia SPG61 autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1 autosomal recessive spastic paraplegia 61 autosomal recessive spastic paraplegia type 61 hereditary spastic paraplegia type 61 Hereditary spastic paraplegia 61 ERLIN1 autosomal recessive pure spastic paraplegia SPG62 autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1 autosomal recessive spastic paraplegia 62 autosomal recessive spastic paraplegia type 62 hereditary spastic paraplegia type 62 spastic paraplegia 62, autosomal recessive Hereditary spastic paraplegia 62 AMPD2 autosomal recessive complex spastic paraplegia SPG63 autosomal recessive complex spastic paraplegia caused by mutation in AMPD2 autosomal recessive spastic paraplegia 63 hereditary spastic paraplegia type 63 spastic paraplegia 63 Hereditary spastic paraplegia 63 ENTPD1 autosomal recessive complex spastic paraplegia SPG64 autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1 autosomal recessive spastic paraplegia 64 autosomal recessive spastic paraplegia type 64 hereditary spastic paraplegia type 64 Hereditary spastic paraplegia 64 autosomal spastic paraplegia type 72 hereditary spastic paraplegia type 72 pure hereditary spastic paraplegia caused by mutation in reep2 reep2 pure hereditary spastic paraplegia spg72 spg72a Hereditary spastic paraplegia 72 fatal multiple mitochondrial dysfunctions syndrome caused by mutation in nfu1 mmds1 - multiple mitochondrial dysfunctions syndrome type 1 multiple mitochondrial dysfunctions syndrome type 1 nfu1 (nfu1 iron-sulfur cluster scaffold) deficiency nfu1 deficiency nfu1 fatal multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome 1 bola3 (bola family member 3) deficiency bola3 deficiency bola3 fatal multiple mitochondrial dysfunctions syndrome fatal multiple mitochondrial dysfunctions syndrome caused by mutation in bola3 mmds2 - multiple mitochondrial dysfunctions syndrome type 2 multiple mitochondrial dysfunctions syndrome type 2 Multiple mitochondrial dysfunctions syndrome 2 Familial median cleft of the upper and lower lips moyamoya 6 with achalasia Moyamoya disease with early-onset achalasia Episodic ataxia type 8 MEND syndrome, X-linked recessive Male EBP disorder with neurological defects Mend syndrome PAM16 spondylodysplastic dysplasia spondylodysplastic dysplasia caused by mutation in PAM16 spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type Autosomal recessive spondylometaphyseal dysplasia, Megarbane type 1p31p32 microdeletion syndrome Del(1)(p31p32) monosomy 1p31p32 Chromosome 1p32-p31 deletion syndrome autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering palmoplantar keratoderma, focal or diffuse Palmoplantar keratoderma, nonepidermolytic, focal or diffuse familial bav familial bav (bicuspid aortic valve) Familial bicuspid aortic valve diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MRD23 autosomal dominant intellectual disability 23 intellectual developmental disorder, autosomal dominant 23 intellectual disability, autosomal dominant type 23 Intellectual disability-facial dysmorphism syndrome due to setd5 haploinsufficiency dna methyltransferase 3 alpha overgrowth syndrome dnmt3a-related overgrowth syndrome tall stature, intellectual disability, facial dysmorphism syndrome tall stature-intellectual disability-facial dysmorphism syndrome tatton brown rahman overgrowth syndrome tatton brown rahman syndrome Tatton-Brown-Rahman overgrowth syndrome oocyte/zygote/embryo maturation arrest 1 ozema1 Female infertility due to zona pellucida defect global developmental delay, lung cysts, overgrowth, and wilms tumor global developmental delay, lung cysts, overgrowth, and wilms tumour global developmental delay, lung cysts, overgrowth, wilms tumor syndrome global developmental delay-lung cysts-overgrowth-wilms tumor syndrome glow glow (global developmental delay, lung cysts, overgrowth, wilms tumor) syndrome glow syndrome glow syndrome, somatic mosaic Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to tud deficiency autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to tud deficiency autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency scar23 scar23 - spinocerebellar ataxia autosomal recessive type 23 spinocerebellar ataxia autosomal recessive type 23 spinocerebellar ataxia, autosomal recessive type 23 Spinocerebellar ataxia, autosomal recessive 23 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in rubcn autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to rubcn deficiency autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to run and cysteine rich domain containing beclin 1 interacting protein deficiency autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in rubcn autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn (run and cysteine rich domain containing beclin 1 interacting protein) deficiency autosomal recessive spinocerebellar ataxia type 15 rubcn autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome rubcn autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome scar15 scar15 - autosomal recessive spinocerebellar ataxia type 15 spinocerebellar ataxia, autosomal recessive type 15 Autosomal recessive spinocerebellar ataxia 15 clp1 (cleavage and polyadenylation factor i subunit 1) related pontocerebellar hypoplasia clp1 non-syndromic pontocerebellar hypoplasia clp1-related pontocerebellar hypoplasia congenital pontocerebellar hypoplasia type 10 non-syndromic pontocerebellar hypoplasia caused by mutation in clp1 pch10 Pontocerebellar hypoplasia type 10 Wolfram-like syndrome autosomal dominant late-onset parkinson disease hereditary late onset parkinson disease hereditary late-onset parkinson disease late onset parkinson disease late onset parkinson's disease lopd park parkinson disease, age of onset, modifier, multifactorial parkinson disease, late-onset parkinson disease, late-onset, susceptibility to parkinson disease, late-onset, susceptibility to, multifactorial parkinson disease, susceptibility to parkinson disease, susceptibility to, multifactorial pd susceptibility to parkinson's disease Late-onset Parkinson disease Maternal riboflavin deficiency dee23 developmental and epileptic encephalopathy 23 early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome eiee23 epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome epileptic encephalopathy, early infantile, 23 epileptic encephalopathy, early infantile, type 23 Developmental and epileptic encephalopathy, 23 facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome fdlab (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome fdlab syndrome traboulsi syndrome Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome autosomal recessive cerebellar ataxia caused by mutation in stub1 autosomal recessive cerebellar ataxia due to stip1 homology and u-box containing protein 1 deficiency autosomal recessive cerebellar ataxia due to stub1 (stip1 homology and u-box containing protein 1) deficiency autosomal recessive spinocerebellar ataxia type 16 scar16 scar16 - spinocerebellar ataxia autosomal recessive type 16 spinocerebellar ataxia autosomal recessive type 16 spinocerebellar ataxia, autosomal recessive type 16 stub1 autosomal recessive cerebellar ataxia Autosomal recessive spinocerebellar ataxia 16 dst-related epidermolysis bullosa simplex ebs due to bp230 deficiency ebs-ar bp230 ebs3 epidermolysis bullosa simplex 3, localised or generalised intermediate, with bp230 deficiency epidermolysis bullosa simplex due to bp230 deficiency epidermolysis bullosa simplex, autosomal recessive type 2 Epidermolysis bullosa simplex 3, localized or generalized intermediate, with bp230 deficiency ebs due to exophilin 5 deficiency ebs-ar exophilin 5 epidermolysis bullosa simplex due to exophilin 5 deficiency Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive pfe pfe - primary failure of tooth eruption primary retention of teeth Primary failure of tooth eruption ano3 dystonic disorder cranio-cervical dystonia with laryngeal and upper limb involvement dystonia type 24 dystonic disorder caused by mutation in ano3 dyt-ano3 dyt24 dyt24 - dystonia 24 Dystonia 24 adult-onset cervical dystonia dyt23 type cacna1b dystonic disorder dystonia type 23 dystonic disorder caused by mutation in cacna1b dyt23 Dystonia 23 BDPLT18 RASGRP2 inherited bleeding disorder, platelet-type bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency inherited bleeding disorder, platelet-type caused by mutation in RASGRP2 Platelet-type bleeding disorder 18 SCID due to CTPS1 deficiency immunodeficiency type 24 Severe combined immunodeficiency due to ctps1 deficiency Wooly hair-palmoplantar keratoderma syndrome keratoderma with woolly hair type iv keratoderma with wooly hair type iv kwwh type iv woolly hair-palmoplantar hyperkeratosis syndrome woolly hair-palmoplantar keratoderma syndrome wooly hair-palmoplantar hyperkeratosis syndrome Woolly hair-palmoplantar keratoderma syndrome Autosomal recessive severe congenital neutropenia due to csf3r deficiency COXPD20 VARS2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in VARS2 combined oxidative phosphorylation deficiency type 20 Combined oxidative phosphorylation defect type 20 Teebi-Al Saleh-Hassoon syndrome Macrosomia-microphthalmia-cleft palate syndrome combined oxidative phosphorylation deficiency caused by mutation in tars2 combined oxidative phosphorylation deficiency type 21 coxpd21 coxpd21 - combined oxidative phosphorylation defect type 21 tars2 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 21 radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome riddle (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome rnf168 (ring finger protein 168) deficiency rnf168 deficiency Riddle syndrome severe congenital neutropenia 6, autosomal recessive Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency ectodermal dysplasia short stature syndrome ectodermal dysplasia-short stature syndrome nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome short stature, nail dysplasia, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome ml 3 gamma ml iii gamma ml iiic mucolipidosis type 3 gamma GNPTG-mucolipidosis cers1 progressive myoclonic epilepsy epilepsy, progressive myoclonic, type 8 epm8 pme (progressive myoclonic epilepsy) type 8 pme type 8 progressive myoclonic epilepsy caused by mutation in cers1 progressive myoclonic epilepsy due to ceramide synthase 1 deficiency progressive myoclonic epilepsy due to cers1 (ceramide synthase 1) deficiency progressive myoclonic epilepsy due to cers1 deficiency progressive myoclonus epilepsy type 8 Progressive myoclonic epilepsy type 8 microphthalmia, syndromic type 14 microphthalmia-coloboma-rhizomelic skeletal dysplasia Colobomatous microphthalmia-rhizomelic dysplasia syndrome autosomal recessive limb girdle muscular dystrophy type 2y autosomal recessive limb-girdle muscular dystrophy caused by mutation in tor1aip1 autosomal recessive muscular dystrophy due to lap1b (lamin-associated protein 1b) deficiency autosomal recessive muscular dystrophy due to lap1b deficiency autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency lgmd type 2y lgmd2y mrrsdc muscular dystrophy with progressive weakness, distal contracture and rigid spine muscular dystrophy with progressive weakness, distal contractures and rigid spine muscular dystrophy, limb-girdle, type 2y tor1aip1 autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2y X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome microphthalmia, syndromic type 13 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome combined immunodeficiency with childhood-onset Kaposi sarcoma combined immunodeficiency with impaired immunity to HHV-8 combined immunodeficiency with impaired immunity to human herpes virus 8 immunodeficiency type 16 Combined immunodeficiency due to ox40 deficiency IMD44 immunodeficiency 44 immunodeficiency type 44 primary immunodeficiency with post-MMR vaccine viral infection Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection SPG57 TFG hereditary spastic paraplegia autosomal recessive spastic paraplegia 57 autosomal recessive spastic paraplegia type 57 hereditary spastic paraplegia caused by mutation in TFG hereditary spastic paraplegia type 57 spastic paraplegia due to partial TFG deficiency Hereditary spastic paraplegia 57 familial multiple cementoma familial ossifying fibroma hereditary ossifying fibroma (disease) multiple ossifying fibroma Gigantiform cementoma autosomal dominant axonal charcot-marie-tooth type 2y autosomal dominant charcot-marie-tooth disease type 2 due to vcp (valosin containing protein) mutation autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation charcot-marie-tooth disease type 2 caused by mutation in vcp charcot-marie-tooth disease, type 2y charcot-marie-tooth neuropathy type 2y cmt2 due to vcp mutation cmt2y vcp charcot-marie-tooth disease type 2 Charcot-Marie-Tooth disease type 2Y epilepsy, progressive myoclonic type 7 epm7 - epilepsy progressive myoclonic 7 kcnc1 progressive myoclonic epilepsy meak myoclonus epilepsy and ataxia due to potassium channel mutation pme type 7 progressive myoclonic epilepsy caused by mutation in kcnc1 progressive myoclonic epilepsy due to kv3.1 deficiency progressive myoclonus epilepsy type 7 Progressive myoclonic epilepsy type 7 generalised lipodystrophy-progeroid features-severe intellectual disability syndrome generalized lipodystrophy, progeroid features, severe intellectual disability syndrome generalized lipodystrophy-progeroid features-severe intellectual disability syndrome keppen lubinsky syndrome Keppen-lubinsky syndrome short stature, advanced bone age, early-onset osteoarthritis syndrome Short stature-advanced bone age-early-onset osteoarthritis syndrome lethal neonatal rigidity, multifocal seizure syndrome lethal neonatal rigidity-multifocal seizure syndrome lethal neonatal spasticity, epileptic encephalopathy syndrome lethal neonatal spasticity-epileptic encephalopathy syndrome Neonatal-onset encephalopathy with rigidity and seizures colobomatous optic disc, macular atrophy, chorioretinopathy syndrome Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome cog2-cdg cog2-cdg - component of oligomeric golgi complex 2 - congenital disorder of glycosylation cog2-related congenital disorder of glycosylation component of oligomeric golgi complex 2-related congenital disorder of glycosylation Congenital disorder of glycosylation, type iiq x-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome progeroid features, hepatocellular carcinoma predisposition syndrome ruijs aalfs syndrome Progeroid features-hepatocellular carcinoma predisposition syndrome CMTRID COX6A1 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease caused by mutation in COX6A1 Charcot-Marie-Tooth disease recessive intermediate type D Charcot-Marie-Tooth disease, recessive Intermediate type D RI-CMT type D autosomal recessive intermediate Charcot-Marie-Tooth disease type D Charcot-Marie-Tooth disease recessive intermediate D nlrc4-related autoinflammatory syndrome with macrophage activation syndrome nlrc4-related autoinflammatory syndrome with mas nlrc4-related infantile enterocolitis, autoinflammatory syndrome nlrc4-related infantile enterocolitis-autoinflammatory syndrome nlrc4-related macrophage activation syndrome nlrc4-related mas periodic fever, infantile enterocolitis, autoinflammatory syndrome Periodic fever-infantile enterocolitis-autoinflammatory syndrome thbd (thrombomodulin) related bleeding disorder thbd-related bleeding disorder thbd-related coagulopathy thrombomodulin-related coagulopathy thrombophilia 12 due to thrombomodulin defect Thrombomodulin-related bleeding disorder cagsss cagsss - cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Atrial conduction disease retinal dystrophy, juvenile cataract, short stature syndrome retinal dystrophy-juvenile cataract-short stature syndrome retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome cid-mia/early-onset ibd cid-mia/early-onset ibd - combined immunodeficiency-multiple intestinal atresia/early-onset inflammatory bowel disease combined immunodeficiency, enteropathy spectrum combined immunodeficiency-enteropathy spectrum familial intestinal polyatresia syndrome fipa gidid1 minat multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency Gastrointestinal defects and immunodeficiency syndrome 1 CD16 deficiency autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity immunodeficiency type 20 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity Ketoacidosis due to monocarboxylate transporter-1 deficiency arginyl-trna synthetase 1-related autosomal recessive hypomyelinating leukodystrophy hld9 hypomyelinating leukodystrophy type 9 leukodystrophy caused by mutation in rars leukodystrophy, hypomyelinating, type 9 rars leukodystrophy rars-related autosomal recessive hypomyelinating leukodystrophy Hypomyelinating leukodystrophy 9 bilateral hip and radial head dislocations, short stature, scoliosis, carpal coalition, pes cavus, facial dysmorphism syndrome bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome Steel syndrome ataxia-telangiectasia-like disorder type 2 proliferating cell nuclear antigen-related progressive neurodegenerative photosensitivity syndrome Ataxia-telangiectasia-like disorder 2 signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease STAT3-related early-onset multisystem autoimmune disease BDPLT19 PRKACG isolated hereditary giant platelet disorder isolated hereditary giant platelet disorder caused by mutation in PRKACG severe autosomal recessive macrothrombocytopenia Platelet-type bleeding disorder 19 autosomal dominant intellectual disability 31 intellectual disability, autosomal dominant type 31 mrd31 pura syndrome PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation ITM2B-related amyloidosis ITM2B-related cerebral amyloid angiopathy familial cerebral amyloid angiopathy ITM2B amyloidosis Chromosome 5q12 deletion syndrome lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome meckel syndrome type 12 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome SFTPC-related ILD interstitial lung disease due to SP-C deficiency interstitial lung disease due to surfactant protein C deficiency SFTPC- related interstitial lung disease abca3-related pulmonary surfactant metabolism dysfunction interstitial lung disease due to abca3 (atp-binding cassette subfamily a member 3) deficiency interstitial lung disease due to atp-binding cassette subfamily a member 3 deficiency surfactant metabolism dysfunction, pulmonary, type 3 Interstitial lung disease due to abca3 deficiency hereditary pulmonary alveolar proteinosis with hepatic involvement interstitial lung and liver disease pap, reunion island type pulmonary alveolar proteinosis reunion island type pulmonary alveolar proteinosis, reunion island type severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency Severe early-onset pulmonary alveolar proteinosis due to mars deficiency deficiency of phosphopentosisomerase deficiency of phosphoriboisomerase ribose-5-p isomerase deficiency Deficiency of ribose-5-phosphate isomerase l-ferritin deficiency, autosomal dominant l-ferritin deficiency, dominant and recessive lftd - l-ferritin deficiency L-ferritin deficiency hereditary porphyria cutanea tarda pct (porphyria cutanea tarda) type ii pct, ''familial'' type pct, type ii porphyria cutanea tarda type ii porphyria cutanea tarda, susceptibility to porphyria cutanea tarda, type ii Familial porphyria cutanea tarda CMT2S Charcot-Marie-Tooth disease caused by mutation in IGHMBP2 Charcot-Marie-Tooth disease type 2S Charcot-Marie-Tooth neuropathy type 2S IGHMBP2 Charcot-Marie-Tooth disease autosomal recessive axonal Charcot-Marie-Tooth type 2S Charcot-Marie-Tooth disease axonal type 2S enlargement of the inner surface of the skull bones excessive growth of inner surface of the skull bones hyperostosis cranalis interna hyperostosis cranialis interna (disease) hyperostosis of the internal surface of the cranial bone hyperostosis of the internal surface of the cranial bones hypertrophy of the internal surface of the cranial bones increased ossification of the internal surface of the cranial bones overgrowth of the inner surface of the skull bones overgrowth of the inside of the skull thick inner surface of the skull bones thick internal surface of the cranial bones Hyperostosis cranialis interna erythropoietic protoporphyria, x-linked erythropoietic protoporphyria, x-linked dominant x-linked dominant erythropoietic protoporphyria x-linked dominant protoporphyria xldpp xlpp X-linked erythropoietic protoporphyria cerebral ventriculomegaly, cystic kidney disease congenital nephrosis, cerebral ventriculomegaly syndrome congenital nephrosis-cerebral ventriculomegaly syndrome vmckd vmckd - ventriculomegaly with cystic kidney disease Ventriculomegaly-cystic kidney disease mfda mfda - mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with alopecia combined oxidative phosphorylation deficiency caused by mutation in gtpbp3 combined oxidative phosphorylation deficiency type 23 coxpd23 coxpd23 - combined oxidative phosphorylation defect type 23 gtpbp3 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 23 46,xx ovarian dysgenesis, short stature syndrome ovarian dysgenesis type 4 46,XX ovarian dysgenesis-short stature syndrome Cerebellar-facial-dental syndrome autoinflammation and autoimmunity, systemic, with immune dysregulation copa defect copa syndrome Autoimmune interstitial lung disease-arthritis syndrome CPT1C autosomal dominant pure spastic paraplegia SPG73 autosomal dominant pure spastic paraplegia caused by mutation in CPT1C autosomal dominant spastic paraplegia 73 autosomal dominant spastic paraplegia type 73 hereditary spastic paraplegia type 73 Hereditary spastic paraplegia 73 peeling skin, leuconychia, acral punctate keratoses, cheilitis, knuckle pads syndrome peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads syndrome plack (peeling skin, leukonychia, acral punctate keratoses, cheilitis, knuckle pads) syndrome plack syndrome Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome combined oxidative phosphorylation deficiency caused by mutation in nars2 combined oxidative phosphorylation deficiency type 24 coxpd24 coxpd24 - combined oxidative phosphorylation defect type 24 nars2 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 24 Evans syndrome associated with primary immunodeficiency TPPII deficiency TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease triangle disease tripeptidyl-peptidase II deficiency Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type vii 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia 3-methylglutaconic aciduria, type vii, with cataracts, neurologic involvement and neutropenia 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome clpb 3-methylglutaconic aciduria megcann mga7 mgca7 mgca7b 3-methylglutaconic aciduria, type viib combined cerebellar and peripheral ataxia, deafness, diabetes mellitus syndrome combined cerebellar and peripheral ataxia, hearing loss, diabetes mellitus syndrome combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome juvenile-onset diabetes mellitus, central and peripheral neurodegeneration syndrome Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome lgmd due to pomk deficiency limb girdle muscular dystrophy due to pomk deficiency limb girdle muscular dystrophy due to protein o-mannose kinase deficiency Limb-girdle muscular dystrophy due to pomk deficiency aldh18a1 autosomal recessive complex spastic paraplegia ar-spg9b autosomal recessive complex spastic paraplegia caused by mutation in aldh18a1 autosomal recessive spastic paraplegia 9b autosomal recessive spastic paraplegia type 9b hereditary spastic paraplegia type 9b spg9b Autosomal recessive complex spastic paraplegia type 9B Mitochondrial pyruvate carrier deficiency combined oxidative phosphorylation deficiency caused by mutation in mars2 combined oxidative phosphorylation deficiency type 25 coxpd25 coxpd25 - combined oxidative phosphorylation defect type 25 mars2 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 25 pigmentation defects, palmoplantar keratoderma, skin carcinoma syndrome Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome autosomal dominant axonal charcot-marie-tooth disease type 2v autosomal dominant charcot-marie-tooth disease type 2 due to naglu (n-acetyl-alpha-glucosaminidase) mutation autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation autosomal dominant charcot-marie-tooth disease type 2v charcot-marie-tooth disease caused by mutation in naglu charcot-marie-tooth neuropathy type 2v cmt2v hereditary adult onset painful axonal polyneuropathy hereditary adult-onset painful axonal polyneuropathy naglu charcot-marie-tooth disease Charcot-Marie-Tooth disease axonal type 2V klippel-feil anomaly, myopathy, facial dysmorphism syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome myopathy, scapulohumeroperoneal Progressive scapulohumeroperoneal distal myopathy autosomal recessive spinocerebellar ataxia type 19 lichtenstein knorr syndrome progressive autosomal recessive ataxia, deafness syndrome progressive autosomal recessive ataxia-sensorineural hearing loss syndrome progressive autosomal recessive cerebellar ataxia, sensorineural hearing loss syndrome scar19 scar19 - spinocerebellar ataxia, autosomal recessive 19 Lichtenstein-knorr syndrome Pelger-Huet anomaly with mild skeletal anomalies Regressive spondylometaphyseal dysplasia Symptomatic form of fragile X syndrome in female carrier Familial congenital nasolacrimal duct obstruction neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome autosomal recessive cerebellar ataxia due to cwf19 like cell cycle control factor 1 deficiency autosomal recessive congenital cerebellar ataxia caused by mutation in cwf19l1 autosomal recessive spinocerebellar ataxia type 17 cwf19l1 autosomal recessive congenital cerebellar ataxia scar17 scar17 - spinocerebellar ataxia autosomal recessive type 17 spinocerebellar ataxia autosomal recessive type 17 spinocerebellar ataxia, autosomal recessive type 17 Autosomal recessive spinocerebellar ataxia 17 pepns - polyendocrine polyneuropathy syndrome polyendocrine polyneuropathy syndrome Polyendocrine-polyneuropathy syndrome familial adenomatous polyposis type 3 fap3 nthl1-related adenomatous polyposis and colorectal cancer nthl1-related afap nthl1-related attenuated familial adenomatous polyposis nthl1-related attenuated fap Familial adenomatous polyposis 3 imnepd imnepd1 infantile multisystem neurologic-endocrine-pancreatic disease infantile-onset multisystem neurologic, endocrine, and pancreatic disease Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 x-linked myotubular myopathy, abnormal genitalia syndrome xq28 contiguous gene deletion syndrome X-linked myotubular myopathy-abnormal genitalia syndrome gyg1 polyglucosan body myopathy pgbm2 - polyglucosan body myopathy type 2 polyglucosan body myopathy caused by mutation in gyg1 Polyglucosan body myopathy type 2 Autosomal dominant mitochondrial myopathy with exercise intolerance coenzyme q10 deficiency, primary, type 7 coenzyme q4-related neonatal encephalomyopathy coq4-related neonatal encephalomyopathy neonatal encephalomyopathy, cardiomyopathy, respiratory distress syndrome Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome arboleda tham syndrome arboleda-tham syndrome arths autosomal dominant intellectual disability 32 autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome intellectual disability, autosomal dominant type 32 kat6a syndrome mrd32 Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome intellectual developmental disorder, autosomal recessive 48 intellectual disability, autosomal recessive type 48 progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome syndromic sensorineural deafness due to combined oxidative phosphorylation defect syndromic sensorineural deafness due to coxpd syndromic sensorineural deafness due to coxpd (combined oxidative phosphorylation defect) syndromic sensorineural hearing loss due to coxpd syndromic sensorineural hearing loss due to coxpd (combined oxidative phosphorylation defect) Combined oxidative phosphorylation deficiency 34 macrocephaly, obesity, mental disability, ocular abnormality syndrome macrocephaly-obesity-mental disability-ocular abnormalities syndrome macrosomia-obesity-macrocephaly-ocular abnormalities syndrome momo (macrocephaly, obesity, mental disability, ocular abnormality) syndrome Momo syndrome intellectual developmental disorder, x-linked 12 intellectual developmental disorder, x-linked 12, x-linked recessive intellectual developmental disorder, x-linked, syndromic, kumar type intellectual disability, x-linked type 12 mrxsk X-linked intellectual disability-short stature-overweight syndrome epilepsy, progressive myoclonic, type 9 epm9 lmnb2 progressive myoclonic epilepsy pme (progressive myoclonic epilepsy) type 9 pme type 9 progressive myoclonic epilepsy caused by mutation in lmnb2 progressive myoclonic epilepsy due to lmnb2 (lamin b2) deficiency progressive myoclonic epilepsy due to lmnb2 deficiency progressive myoclonus epilepsy type 9 Progressive myoclonic epilepsy type 9 autosomal dominant intellectual disability 35 houge-janssens syndrome 1 intellectual developmental disorder, autosomal dominant 35 intellectual disability, autosomal dominant type 35 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Hogue-Janssens syndrome 1 autosomal dominant intellectual disability 36 intellectual developmental disorder, autosomal dominant 36 intellectual disability, autosomal dominant type 36 microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome Houge-janssens syndrome 2 microcephaly, intellectual disability, sensorineural deafness, epilepsy, abnormal muscle tone syndrome microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome nedhsb neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome megalencephaly, severe kyphoscoliosis, overgrowth syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome dee35 developmental and epileptic encephalopathy 35 eiee35 epileptic encephalopathy, early infantile, 35 epileptic encephalopathy, early infantile, type 35 inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement itpa-related encephalopathy itpa-related lethal infantile neurological disorder with cataract and cardiac involvement martsolf-like syndrome Developmental and epileptic encephalopathy, 35 complex lethal osteochondrodysplasia symoens barnes gistelinck type complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type Complex lethal osteochondrodysplasia progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome semdfa Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome fatal multiple mitochondrial dysfunctions syndrome caused by mutation in isca2 isca2 fatal multiple mitochondrial dysfunctions syndrome mmds4 - multiple mitochondrial dysfunctions syndrome type 4 multiple mitochondrial dysfunctions syndrome type 4 Multiple mitochondrial dysfunctions syndrome 4 SCA41 Spinocerebellar ataxia type 41 SCA42 spinocerebellar ataxia 42 Spinocerebellar ataxia type 42 sed (spondyloepiphyseal dysplasia) stanescu type sed, stanescu type sedstn spondyloepimetaphyseal dysplasia, stanescu type spondyloepiphyseal dysplasia stanescu type Spondyloepiphyseal dysplasia, stanescu type MAG hereditary spastic paraplegia SPG75 autosomal recessive spastic paraplegia 75 autosomal recessive spastic paraplegia type 75 hereditary spastic paraplegia caused by mutation in MAG hereditary spastic paraplegia type 75 spastic paraplegia 75, autosomal recessive Hereditary spastic paraplegia 75 DEDSSH1 developmental delay with short stature, dysmorphic features, and sparse hair 1 diphtamide deficiency syndrome Developmental delay with short stature, dysmorphic facial features, and sparse hair 1 x-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome SPPRS syndrome spastic paraplegia-psychomotor retardation-seizures syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome sbidds short stature, brachydactyly, impaired intellectual development, and seizures short stature, brachydactyly, intellectual developmental disability, and seizures Short stature-brachydactyly-obesity-global developmental delay syndrome lccs10 lethal congenital contracture syndrome 10 lethal congenital contracture syndrome type 10 lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome nima related kinase 9 lethal skeletal dysplasia NEK9-related lethal skeletal dysplasia col6a3 dystonic disorder dystonia type 27 dystonic disorder caused by mutation in col6a3 primary dystonia dyt27 type primary dystonia type 27 Dystonia 27 fever-associated acute infantile liver failure syndrome infantile liver failure syndrome liver failure, infantile Infantile liver failure basel vanagaite smirin yosef syndrome basel-vanagait-smirin-yosef syndrome Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome cavitary optic disc anomaly familial cavitary optic disc anomaly familial coda familial coda (cavitary optic disc anomaly) Familial cavitary optic disk anomaly fetal encasement syndrome foetal encasement syndrome Cocoon syndrome ccafca severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome carbohydrate deficient glycoprotein syndrome type iip cdg (congenital disorder of glycosylation) syndrome type iip cdg syndrome type iip cdg-iip cdg2p congenital disorder of glycosylation type 2p congenital disorder of glycosylation type iip congenital disorder of glycosylation, type iip tmem199 congenital disorder of glycosylation tmem199-cdg - transmembrane protein 199 congenital disorder of glycosylation transmembrane protein 199 congenital disorder of glycosylation TMEM199-CDG macular dystrophy, patterned, 3 macular dystrophy, patterned, type 3 mapkapk3 patterned macular dystrophy martinique crinkled retinal pigment epitheliopathy mcrpe mcrpe - martinique crinkled retinal pigment epitheliopathy mdpt3 patterned macular dystrophy caused by mutation in mapkapk3 patterned macular dystrophy type 3 Patterned macular dystrophy 3 FARS2 hereditary spastic paraplegia SPG77 autosomal recessive spastic paraplegia 77 hereditary spastic paraplegia caused by mutation in FARS2 hereditary spastic paraplegia type 77 spastic paraplegia 77, autosomal recessive Hereditary spastic paraplegia 77 autosomal dominant axonal charcot-marie-tooth disease type 2z autosomal dominant charcot-marie-tooth disease type 2 due to morc2 (morc family cw-type zinc finger 2) mutation autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation charcot-marie-tooth disease caused by mutation in morc2 charcot-marie-tooth neuropathy type 2z cmt2z morc2 charcot-marie-tooth disease Charcot-Marie-Tooth disease axonal type 2Z arcmt2x autosomal recessive axonal charcot-marie-tooth disease type 2x autosomal recessive charcot-marie-tooth disease type 2 due to spg11 (spg11 vesicle trafficking associated, spatacsin) mutation autosomal recessive charcot-marie-tooth disease type 2 due to spg11 mutation charcot-marie-tooth disease caused by mutation in spg11 charcot-marie-tooth neuropathy type 2x cmt2x spg11 charcot-marie-tooth disease Charcot-Marie-Tooth disease axonal type 2X combined oxidative phosphorylation defect type 28 combined oxidative phosphorylation deficiency caused by mutation in slc25a26 combined oxidative phosphorylation deficiency type 28 coxpd28 coxpd28 - combined oxidative phosphorylation defect type 28 neonatal severe cardiopulmonary failure due to mitochondrial methylation defect slc25a26 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 28 MRXS34 MRXSML NONO X-linked syndromic intellectual disability X-linked syndromic intellectual disability caused by mutation in NONO intellectual developmental disorder, X-linked syndromic 34 intellectual disability, X-linked, syndromic 34 intellectual disability, X-linked, syndromic type 34 macrocephaly-intellectual disability-left ventricular non compaction syndrome syndromic X-linked intellectual disability Mircsof-Langouet type syndromic X-linked intellectual disability type 34 Syndromic X-linked intellectual disability 34 acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy syndrome autosomal recessive spinocerebellar ataxia 21 with hepatopathy autosomal recessive spinocerebellar ataxia type 21 cholestasis, low ggt, acute liver failure, and neurodegeneration syndrome scar21 spinocerebellar ataxia, autosomal recessive 21 spinocerebellar ataxia, autosomal recessive type 21 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome autosomal recessive limb girdle muscular dystrophy type 2w autosomal recessive limb-girdle muscular dystrophy caused by mutation in lims2 lim zinc finger domain containing 2-related limb girdle muscular dystrophy limb girdle muscular dystrophy type 2w lims2 autosomal recessive limb-girdle muscular dystrophy lims2-related limb girdle muscular dystrophy mdrcmtt muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue muscular dystrophy, limb-girdle, type 2w Autosomal recessive limb-girdle muscular dystrophy type 2W seizures, scoliosis, and macrocephaly syndrome seizures, scoliosis, and macrocephaly/microcephaly syndrome seizures, scoliosis, macrocephaly syndrome ssm (seizures, scoliosis, macrocephaly) syndrome ssm syndrome ssms Seizures-scoliosis-macrocephaly syndrome HLD12 VPS11 leukodystrophy VPS11-related autosomal recessive hypomyelinating leukoencephalopathy hypomyelinating leukodystrophy type 12 leukodystrophy caused by mutation in VPS11 leukodystrophy, hypomyelinating, 12 leukodystrophy, hypomyelinating, type 12 Hypomyelinating leukodystrophy 12 wac-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome wac-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome ww domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome Desanto-shinawi syndrome facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation Desanto-shinawi syndrome due to wac point mutation IHPMR hypotonia, infantile, with psychomotor retardation Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome microcephalic cortical malformations, short stature due to rotatin deficiency microcephalic cortical malformations, short stature due to rttn (rotatin) deficiency microcephalic cortical malformations, short stature due to rttn deficiency microcephalic cortical malformations-short stature due to rttn deficiency microcephaly, short stature, and polymicrogyria microcephaly, short stature, and polymicrogyria with or without seizures mssp Microcephalic primordial dwarfism due to RTTN deficiency IBA57 hereditary spastic paraplegia SPG74 autosomal recessive spastic paraplegia 74 hereditary spastic paraplegia caused by mutation in IBA57 hereditary spastic paraplegia type 74 Hereditary spastic paraplegia 74 Dann-Epstein-Sohar syndrome ITPR2 anhidrosis anhidrosis caused by mutation in ITPR2 Isolated anhidrosis with normal sweat glands colobomatous macrophthalmia with microcornea syndrome macom (macrophthalmia colobomatous with microcornea) syndrome macom syndrome Colobomatous macrophthalmia-microcornea syndrome carbohydrate deficient glycoprotein syndrome type iio ccdc115 congenital disorder of glycosylation ccdc115-cdg - coiled-coil domain containing 115 congenital disorder of glycosylation cdg syndrome type iio cdg-iio cdg2o coiled-coil domain containing 115 congenital disorder of glycosylation congenital disorder of glycosylation type 2o congenital disorder of glycosylation type iio congenital disorder of glycosylation, type iio CCDC115-CDG carbohydrate deficient glycoprotein syndrome type iin cdg syndrome type iin cdg-iin cdg2n congenital disorder of glycosylation type 2n congenital disorder of glycosylation type iin congenital disorder of glycosylation, type iin slc39a8 congenital disorder of glycosylation slc39a8 deficiency slc39a8-cdg - solute carrier family 39 member 8 congenital disorder of glycosylation solute carrier family 39 member 8 congenital disorder of glycosylation SLC39A8-CDG autosomal recessive limb girdle muscular dystrophy, cardiac arrhythmia syndrome autosomal recessive limb-girdle muscular dystrophy caused by mutation in bves autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome blood vessel epicardial substance related limb girdle muscular dystrophy bves (blood vessel epicardial substance) related limb girdle muscular dystrophy bves autosomal recessive limb-girdle muscular dystrophy bves-related lgmd bves-related limb girdle muscular dystrophy bves-related limb-girdle muscular dystrophy lgmd type 2x lgmd2x lgmdr25 limb girdle muscular dystrophy 2x limb-girdle muscular dystrophy 2x muscular dystrophy, limb-girdle, autosomal recessive 25 muscular dystrophy, limb-girdle, type 2x Autosomal recessive limb-girdle muscular dystrophy type 2X aifbl1 hereditary paediatric behçet-like disease Autoinflammatory syndrome, familial, behcet-like 1 cid due to tfrc deficiency combined immunodeficiency due to transferrin receptor deficiency imd46 immunodeficiency 46 immunodeficiency type 46 tfrc (transferrin receptor) related combined immunodeficiency TFRC-related combined immunodeficiency autosomal dominant intellectual disability 44 intellectual developmental disorder, autosomal dominant 44, with microcephaly mebas mercer-ba syndrome mrd44 trio-related intellectual disability Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome cmt1g pmp2-related charcot-marie-tooth disease type 1 pmp2-related charcot-marie-tooth neuropathy type 1 pmp2-related cmt1 pmp2-related hereditary motor and sensory neuropathy type 1 Charcot-marie-tooth disease, demyelinating, type 1g common variable immunodeficiency 11 il21-related infantile ibd immunodeficiency, common variable, type 11 interleukin 21 related infantile inflammatory bowel disease IL21-related infantile inflammatory bowel disease gpt2 deficiency nedspm neurodevelopmental disorder with microcephaly and spastic paraplegia postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome Glutamate pyruvate transaminase 2 deficiency combined oxidative phosphorylation deficiency caused by mutation in trmt5 combined oxidative phosphorylation deficiency type 26 coxpd26 coxpd26 - combined oxidative phosphorylation defect type 26 peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay pnsed trmt5 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 26 padmal padmal - pontine autosomal dominant microangiopathy with leukoencephalopathy pontine autosomal dominant microangiopathy with leukoencephalopathy Microangiopathy and leukoencephalopathy, pontine, autosomal dominant cars2 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in cars2 combined oxidative phosphorylation deficiency type 27 coxpd27 coxpd27 - combined oxidative phosphorylation defect type 27 Combined oxidative phosphorylation defect type 27 deficiency of phospholipase a2, group iva pla2g4a (phospholipase a2 group iva) related platelet dysfunction pla2g4a-related platelet dysfunction platelet dysfunction due to cytosolic phospholipase-a2 alpha deficiency Cytosolic phospholipase-a2 alpha deficiency associated bleeding disorder progressive microcephaly, seizures, cortical blindness, developmental delay syndrome scbms seizures, cortical blindness, microcephaly syndrome Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 17p11.2p12 microduplication syndrome dup(17)(p11.2p12) peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome trisomy 17p11.2-p12 trisomy 17p11.2p12 yuan harel lupski syndrome yuhal PMP22-RAI1 contiguous gene duplication syndrome kosaki overgrowth syndrome skeletal overgrowth, craniofacial dysmorphism, hyperelastic skin, white matter lesion syndrome Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome combined oxidative phosphorylation defect type 29 combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency caused by mutation in txn2 combined oxidative phosphorylation deficiency type 29 coxpd29 coxpd29 - combined oxidative phosphorylation defect type 29 txn2 combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 29 combined oxidative phosphorylation deficiency 30 combined oxidative phosphorylation deficiency caused by mutation in trmt10c combined oxidative phosphorylation deficiency type 30 coxpd30 coxpd30 - combined oxidative phosphorylation defect type 30 trmt10c combined oxidative phosphorylation deficiency Combined oxidative phosphorylation defect type 30 COXPD31 MIPEP combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency 31 combined oxidative phosphorylation deficiency caused by mutation in MIPEP combined oxidative phosphorylation deficiency type 31 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome cip-hypohidrosis syndrome hereditary sensory and autonomic neuropathy type 8 hereditary sensory and autonomic neuropathy type viii hsan viii hsan8 hsan8 - hereditary sensory and autonomic neuropathy type 8 Congenital insensitivity to pain-hypohidrosis syndrome autosomal recessive limb girdle muscular dystrophy type 2z autosomal recessive limb-girdle muscular dystrophy caused by mutation in poglut1 autosomal recessive limb-girdle muscular dystrophy type 2z lgmd type 2z lgmd2z limb girdle muscular dystrophy type 2z muscular dystrophy, limb-girdle, autosomal recessive 21 muscular dystrophy, limb-girdle, type 2z poglut1 autosomal recessive limb-girdle muscular dystrophy poglut1-related lgmd r21 poglut1-related limb girdle muscular dystrophy r21 poglut1-related limb-girdle muscular dystrophy r21 protein o-glucosyltransferase 1-related limb girdle muscular dystrophy r21 Autosomal recessive limb-girdle muscular dystrophy type 2R1 hereditary thrombocytopenia with early-onset myelofibrosis thrombocytopenia type 6 Thrombocytopenia 6 global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome PYCR2-related microcephaly-progressive leukoencephalopathy chbl familial chilblain lupus erythematosus hereditary chilblain lupus Familial chilblain lupus ubiquitin specific peptidase 18 deficiency Pseudo-torch syndrome 2 htra serine peptidase 1-related autosomal dominant cerebral small vessel disease htra1-related autosomal dominant cerebral angiopathy HTRA1-related autosomal dominant cerebral small vessel disease ADSSL1 distal myopathy ADSSL1-related distal myopathy MPD5 adenylosuccinate synthetase-like 1-related distal myopathy distal myopathy caused by mutation in ADSSL1 myopathy, distal, 5 myopathy, distal, type 5 Myopathy, distal, 5 chloride voltage-gated channel 4-related x-linked intellectual disability syndrome clcn4-related x-linked intellectual disability syndrome intellectual disability, x-linked 15 mrx49 mrxsrc raynaud claes syndrome raynaud-claes syndrome raynaud-claes syndrome, x-linked dominant Intellectual disability, X-linked 49 SMABF spinal muscular atrophy with congenital bone fractures Prenatal-onset spinal muscular atrophy with congenital bone fractures congenital muscular dystrophy davignon chauveau type congenital muscular dystrophy, davignon-chauveau type congenital muscular dystrophy, respiratory failure, skin abnormalities, joint hyperlaxity syndrome mdcdc muscular dystrophy, congenital, davignon-chauveau type Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome takenouchi kosaki syndrome Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome plantar lipomatosis, facial dysmorphism, developmental delay syndrome plantar lipomatosis-facial dysmorphism-developmental delay syndrome plantar lipomatosis-unusual facies-developmental delay syndrome Pierpont syndrome mccpd microcephaly, congenital cataract, and psoriasiform dermatitis microcephaly, congenital cataract, psoriasiform dermatitis syndrome smo (sterol-c4-methyl oxidase) deficiency smo deficiency sterol-c4-methyl oxidase deficiency Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Female infertility due to oocyte meiotic arrest retinal dystrophy and iris coloboma with or without cataract Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome sfmmp sfmmp (split-foot malformation, mesoaxial polydactyly) syndrome split-foot malformation with mesoaxial polydactyly split-foot malformation, mesoaxial polydactyly syndrome split-foot malformation, mesoaxial polydactyly, nail abnormalities, sensorineural hearing loss syndrome split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome Split-foot malformation-mesoaxial polydactyly syndrome dup(14)q(32) predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication trisomy 14q32 14q32 duplication syndrome autosomal dominant axonal charcot-marie-tooth disease type 2w autosomal dominant charcot-marie-tooth disease type 2 due to hars (histidyl-trna synthetase 1) mutation autosomal dominant charcot-marie-tooth disease type 2 due to hars mutation charcot-marie-tooth disease type 2 caused by mutation in hars charcot-marie-tooth neuropathy type 2w cmt2w hars charcot-marie-tooth disease type 2 Autosomal dominant charcot-marie-tooth disease type 2w CAPN1 autosomal recessive complex spastic paraplegia SPG76 autosomal recessive complex spastic paraplegia caused by mutation in CAPN1 autosomal recessive spastic paraplegia 76 hereditary spastic paraplegia type 76 spastic paraplegia 76, autosomal recessive Autosomal recessive spastic paraplegia type 76 short stature, developmental delay, congenital heart defect syndrome short stature-developmental delay-congenital heart defect syndrome tkt (transketolase) deficiency tkt deficiency Transketolase deficiency intellectual disability, autosomal recessive 55 intellectual disability, autosomal recessive type 55 mrt55 nedmigs neurodevelopmental disorder with microcephaly and gray sclerae neurodevelopmental disorder with microcephaly and grey sclerae Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome hypotonia, infantile, with psychomotor retardation and characteristic facies type 3 ihprf3 tbc1 domain containing kinase-related intellectual disability syndrome tbck-related intellectual disability syndrome Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 telo2-related intellectual disability, neurodevelopmental disorder telomere maintenance 2-related intellectual disability, neurodevelopmental disorder you hoover fong syndrome you-hoover-fong syndrome TELO2-related intellectual disability-neurodevelopmental disorder DDX41 hereditary neoplastic syndrome MPLPF hereditary neoplastic syndrome caused by mutation in DDX41 myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to DDX41-related hematologic malignancy predisposition syndrome cav3-related distal myopathy caveolin 3 related distal myopathy Distal myopathy, tateyama type Vibratory angioedema NEDBEH neurodevelopmental disorder with or without anomalies of the brain, eye, or heart rere-related neurodevelopmental syndrome Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome short stature, hearing loss, retinitis pigmentosa, and distinctive facies Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome diaph1-related sensorineural deafness, thrombocytopenia syndrome diaph1-related sensorineural deafness-thrombocytopenia syndrome diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome dyskinesia, limb and orofacial, infantile-onset infantile-onset orofacial, trunk, limbs dyskinesia infantile-onset orofacial-trunk-limbs dyskinesia iolod Infantile-onset generalized dyskinesia with orofacial involvement Childhood-onset benign chorea with striatal involvement AR-CMT2T CMT2T autosomal recessive axonal Charcot-Marie-Tooth disease type 2T Charcot-Marie-Tooth disease type 2T C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy hypomyelinating leukodystrophy due to hikeshi deficiency C11orf73-related autosomal recessive hypomyelinating leukodystrophy early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum pebat Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome even (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome evpls Even-plus syndrome early-onset progressive encephalopathy, spastic ataxia, distal spinal muscular atrophy syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome harel yoon syndrome harel-yoon syndrome hayos ocular anomalies, axonal neuropathy, developmental delay syndrome ocular anomalies-axonal neuropathy-developmental delay syndrome optic atrophy-peripheral neuropathy-developmental delay syndrome Harel-yoon syndrome membrane metalloendopeptidase related autosomal dominant charcot marie tooth disease type 2 mme-related autosomal dominant cmt2 mme-related autosomal dominant hereditary motor and sensory neuropathy type 2 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MME autosomal dominant cerebellar ataxia SCA43 autosomal dominant cerebellar ataxia caused by mutation in MME spinocerebellar ataxia 43 spinocerebellar ataxia type 43 Spinocerebellar ataxia 43 childhood-onset basal ganglia degeneration syndrome lenk ploski syndrome lenk-ploski syndrome sndc striatonigral degeneration, childhood-onset Striatonigral degeneration, childhood-onset tall stature, intellectual disability, renal anomalies syndrome thauvin robinet faivre syndrome trofas Tall stature-intellectual disability-renal anomalies syndrome hydranencephaly with renal aplasia-dysplasia march syndrome multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome intellectual developmental disorder, autosomal dominant 48 Intellectual disability, autosomal dominant 48 DFNX7 deafness, X-linked 7 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OSMD Osteosclerotic metaphyseal dysplasia mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome mitochondrial myopathy, cerebellar atrophy, pigmentary retinopathy syndrome mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome intellectual developmental disorder, autosomal dominant 47 stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome Intellectual disability, autosomal dominant 47 ACER3-related early childhood-onset progressive leukodystrophy leukodystrophy due to alkaline ceramidase 3 deficiency Alkaline ceramidase 3 deficiency cabv (cerebellar ataxia, bilateral vestibulopathy) syndrome cabv syndrome canvas canvas - cerebellar ataxia, neuropathy, vestibular areflexia syndrome cerebellar ataxia with bilateral vestibulopathy syndrome Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome scid due to lat deficiency severe combined immunodeficiency due to lat (linker for activation of t cells) deficiency severe combined immunodeficiency due to linker for activation of t cells deficiency Severe combined immunodeficiency due to lat deficiency cid due to moesin deficiency imd50 immunodeficiency 50 immunodeficiency type 50 msn (moesin) related combined immunodeficiency msn-related combined immunodeficiency x-linked moesin-associated immunodeficiency Combined immunodeficiency due to moesin deficiency 3-methylglutaconic aciduria, epilepsy, spasticity, severe intellectual disability syndrome 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome 3-methylglutaconic acuduria type ix, mgca9 mga9 3-methylglutaconic aciduria type 9 cid due to gins1 deficiency combined immunodeficiency due to gins complex subunit 1 deficiency combined immunodeficiency due to gins1 (gins complex subunit 1) deficiency combined immunodeficiency with intrauterine growth retardation, nk (natural killer) cell deficiency, neutropenia combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia Combined immunodeficiency due to gins1 deficiency early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies Cerebrorenal syndrome, Perez type Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome MPSPS mucopolysaccharidosis-like plus disease mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders Mucopolysaccharidosis-plus syndrome apple peel intestinal atresia, ocular anomalies, microcephaly syndrome apple peel syndrome with microcephaly and ocular anomalies apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome ciliary dyskinesia, primary, type 31 jejunal atresia with microcephaly and ocular anomalies jejunal atresia, microcephaly, ocular anomalies syndrome jejunal atresia-microcephaly-ocular anomalies syndrome lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome lethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome Stromme syndrome autosomal recessive complex SPG due to Kennedy pathway dysfunction Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction YY1 haploinsufficiency syndrome Gabriele de Vries syndrome intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome non-phenylketonuric non-bh4-deficiency hyperphenylalaninemia Hyperphenylalaninemia due to dnajc12 deficiency ebs6 ebssh epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy epidermolysis bullosa simplex 6, generalized intermediate, with scarring and hair loss, with or without dilated cardiomyopathy epidermolysis bullosa simplex, generalized, with scarring and hair loss generalised basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss generalized basal epidermolysis bullosa simplex with skin atrophy, scarring and hair loss intermediate ebs with cardiomyopathy intermediate epidermolysis bullosa simplex with cardiomyopathy Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss atp13a2 hereditary spastic paraplegia hereditary spastic paraplegia caused by mutation in atp13a2 spastic paraplegia 78, autosomal recessive spg78 spg78 - autosomal recessive spastic paraplegia type 78 Autosomal recessive spastic paraplegia type 78 intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome skraban deardorff syndrome wdr26-related disorder Skraban-deardorff syndrome anterior segment dysgenesis caused by mutation in cpamd8 anterior segment dysgenesis type 8 asgd8 autosomal recessive anterior segment dysgenesis autosomal recessive dysgenesis of anterior segment of eye cpamd8 anterior segment dysgenesis cpamd8-related anterior segment dysgenesis Anterior segment dysgenesis 8 dup(x)(q25) xq25 duplication syndrome xq25 microtriplication Xq25 microduplication syndrome Proximal myopathy with focal depletion of mitochondria sino syndrome spastic paraplegia, intellectual disability, nystagmus, and obesity spastic paraplegia, intellectual disability, nystagmus, obesity syndrome spastic paraplegia-intellectual disability-nystagmus-obesity syndrome Spastic paraplegia, intellectual disability, nystagmus, and obesity dystonia-parkinsonism-hypermanganesemia syndrome hmndyt2 hmndyt2 - hypermanganesemia with dystonia 2 hypermanganesemia with dystonia 2 hypermanganesemia with dystonia caused by mutation in slc39a14 hypermanganesemia with dystonia type 2 slc39a14 hypermanganesemia with dystonia Hypermanganesemia with dystonia 2 atp1a1 (atpase na+/k+ transporting subunit alpha 1) related autosomal dominant charcot-marie-tooth disease type 2 atp1a1-related autosomal dominant charcot-marie-tooth disease type 2 atp1a1-related cmt2 autosomal dominant charcot-marie-tooth disease type 2dd charcot-marie-tooth neuropathy, type 2dd cmt2dd Charcot-marie-tooth disease, axonal, type 2dd phospholipase a2 activating protein-associated neurodevelopmental disorder plaa-associated neurodevelopmental disorder plaand plaand - phospholipase a2 activating protein-associated neurodevelopmental disorder Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies congenital nad deficiency disorder congenital vertebral, cardiac, renal anomalies syndrome vcrl vertebral, cardiac, renal, and limb defects syndrome Congenital vertebral-cardiac-renal anomalies syndrome baker gordon syndrome baker-gordon syndrome infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram synaptotagmin 1-related neurodevelopmental disorder syt1-related neurodevelopmental disorder Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome severe myopia, generalized joint laxity, short stature syndrome severe myopia-generalized joint laxity-short stature syndrome Joint laxity, short stature, and myopia autosomal recessive hypomyelinating leukodystrophy, progressive spastic ataxia autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia nk6 homeobox 2-related autosomal recessive hypomyelinating leukodystrophy nkx6-2-related autosomal recessive hypomyelinating leukodystrophy spax8 - spastic ataxia 8 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy non-specific syndromic intellectual disability Complex neurodevelopmental disorder hlasa hydrops, lactic acidosis, and sideroblastic anaemia hydrops, lactic acidosis, and sideroblastic anemia hydrops, lactic acidosis, sideroblastic anemia, multisystemic failure syndrome Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome helix helix (hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia) syndrome hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome Helix syndrome DRS with deafness DRS with hearing loss DURS with deafness DURS with hearing loss Duane retraction syndrome with congenital hearing loss Duane retraction syndrome with congenital deafness glycosylphosphatidylinositol anchor attachment 1-related biosynthesis defect gpaa1-related biosynthesis defect neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome Glycosylphosphatidylinositol biosynthesis defect 15 intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome pilarowski bjornsson syndrome Pilarowski-bjornsson syndrome aebp1-related eds aebp1-related eds (ehlers-danlos syndrome) aebp1-related ehlers-danlos syndrome classical-like eds type 2 classical-like ehlers-danlos syndrome type 2 cleds type 2 edscll2 Ehlers-danlos syndrome, classic-like, 2 autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy palmoplantar keratoderma, charcot-marie-tooth syndrome palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome palmoplantar keratoderma-charcot-marie-tooth syndrome Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome cid due to cd70 deficiency combined immunodeficiency due to cd70 deficiency lymphoproliferative syndrome 3 Severe combined immunodeficiency due to CD70 deficiency autosomal recessive lymphoproliferative disease due to itk deficiency combined immunodeficiency due to il2 inducible t cell kinase deficiency combined immunodeficiency due to interleukin-2 inducible t cell kinase deficiency combined immunodeficiency due to itk deficiency itk deficiency itk lymphoproliferative syndrome lpfs1 lymphoproliferative syndrome caused by mutation in itk lymphoproliferative syndrome type 1 Lymphoproliferative syndrome 1 gridhh growth delay-intellectual disability-hepatopathy syndrome growth retardation, impaired intellectual development, hypotonia, and hepatopathy growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy combined immunodeficiency due to carmil2 deficiency combined immunodeficiency due to rltpr deficiency immunodeficiency 58 Severe combined immunodeficiency due to CARMIL2 deficiency g protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome gnb5-related intellectual disability, cardiac arrhythmia syndrome iddca intellectual developmental disorder with cardiac arrhythmia lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia Gnb5-related intellectual disability-cardiac arrhythmia syndrome anoa auditory neuropathy and optic atrophy auditory neuropathy, optic atrophy syndrome multiple mitochondrial dysfunctions syndrome 9a Auditory neuropathy-optic atrophy syndrome carbonic anhydrase xii deficiency hyperchlorhidrosis, isolated Isolated hyperchlorhidrosis prune exopolyphosphatase 1-related neurological syndrome prune1-related neurological syndrome Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies bachmann bupp syndrome bachmann-bupp syndrome global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome nedaba ornithine decarboxylase deficiency Neurodevelopmental disorder with alopecia and brain abnormalities dee73 developmental and epileptic encephalopathy 73 epileptic encephalopathy, early infantile, 73 ring finger protein 13-related severe early-onset epileptic encephalopathy rnf13-related severe early-onset epileptic encephalopathy rnf13-related severe eoee Developmental and epileptic encephalopathy, 73 congenital myopathy 14 congenital myopathy with fast-twitch fiber atrophy congenital myopathy with reduced type ii muscle fibers congenital myopathy with type 2 muscle fiber atrophy congenital myopathy with type ii fiber atrophy myopathy, congenital, with fast-twitch (type ii) fiber atrophy myopathy, congenital, with fast-twitch (type ii) fibre atrophy Congenital myopathy with reduced type 2 muscle fibers carkd deficiency NAD(P)HX dehydratase deficiency apolipoprotein a-i binding protein deficiency nad(p)hx epimerase deficiency Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 pancreatic agenesis, holoprosencephaly syndrome Pancreatic agenesis-holoprosencephaly syndrome oculo-cerebro-dental syndrome Oculocerebrodental syndrome dee71 developmental and epileptic encephalopathy 71 eiee71 epileptic encephalopathy, early infantile, 71 neonatal epileptic encephalopathy due to deficiency of glutaminase neonatal epileptic encephalopathy due to glutaminase deficiency Developmental and epileptic encephalopathy, 71 heme oxygenase-1 deficiency ho-1 (heme oxygenase-1) deficiency ho-1 deficiency Heme oxygenase 1 deficiency anterior maxillary protrusion, strabismus, intellectual disability syndrome anterior maxillary protrusion-strabismus-intellectual disability syndrome impaired intellectual development, anterior maxillary protrusion, and strabismus mrams (mental retardation, anterior maxillary protrusion, strabismus) syndrome mrams syndrome Intellectual disability, anterior maxillary protrusion, and strabismus tmem94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome tmem94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Intellectual developmental disorder with cardiac defects and dysmorphic facies epstein syndrome fechtner syndrome giant platelet syndrome with thrombocytopenia macrothrombocytopenia and progressive sensorineural deafness may-hegglin anomaly myh-9 related disease myh9 related disease myh9-rd myh9-related disease myh9-related disorder myh9-related syndrome myh9-related syndromic thrombocytopenia myosin heavy chain 9 non muscle related disease sebastian platelet syndrome sebastian syndrome Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss infantile inflammatory bowel disease with neurological involvement Inflammatory bowel disease, immunodeficiency, and encephalopathy deficiency of galactose mutarotase galac4 galactose mutarotase deficiency galactosemia iv galactosemia type 4 galm (galactose mutarotase) deficiency galm deficiency Galactosemia 4 coxpd40 glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect qrsl1-related combined oxidative phosphorylation defect qrsl1-related coxpd Combined oxidative phosphorylation deficiency 40 glutamine rich 1-related intellectual disability, chondrodysplasia syndrome qrich1-related intellectual disability, chondrodysplasia syndrome qrich1-related intellectual disability-chondrodysplasia syndrome ververi brady syndrome Ververi-brady syndrome demodectic mange demodex caused disease or disorder demodex disease or disorder demodex infectious disease demodicosis red mange Demodicidosis dd-ii dental pulp stone dentin dysplasia type ii dentin dysplasia, shields type ii false denticles false pulp stones pulp calcification pulp calcifications pulp denticles pulpoliths true denticles true pulp stones Denticles dd-i dentin dysplasia, shields type i dentin dysplasia, type i, with microdontia and misshapen teeth dentine dysplasia - shield's type i dtdp1 radicular dentin dysplasia radicular dentine dysplasia Dentin dysplasia type i Dentin dysplasia-sclerotic bones syndrome dfna 2 nonsyndromic hearing loss dfna2 nonsyndromic hearing loss Autosomal dominant nonsyndromic hearing loss 2A familial juvenile macular degeneration syndrome ffm ffm - fundus flavimaculatus fundus flavimaculatus stargardt 1 stargardt disease, autosomal recessive stargardt's disease Stargardt disease Der Kaloustian-McIntosh-Silver syndrome radioulnar synostosis with developmental delay and hypotonia syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome cutis laxa-leukodystrophy Dermatoleukodystrophy Dermatoosteolysis, kirghizian type dermochondrocorneal dystrophy franc'ois syndrome françois syndrome Francois syndrome Dermo-odonto dysplasia micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification Desbuquois syndrome best disease best macular dystrophy best vitelliform macular dystrophy best1 retinopathy bmd bmd - best macular dystrophy bvmd bvmd - best vitelliform macular dystrophy early-onset vitelliform macular dystrophy juvenile-onset vitelliform macular dystrophy macular dystrophy, vitelliform, type 2 polymorphic vitelline macular degeneration vitelliform macular dystrophy type 2 vitelliform macular dystrophy, early-onset vitelliform macular dystrophy, juvenile-onset Vitelliform macular dystrophy 2 deep fibromatosis/desmoid tumour desmoid desmoid type fibromatosis invasive fibroma Desmoid tumor depdc5 epilepsy, familial focal, with variable foci depdc5-related epilepsy epilepsy, familial focal, with variable foci caused by mutation in depdc5 Epilepsy, familial focal, with variable foci 1 billard toutain maheut syndrome billard-toutain-maheut syndrome foxp2-associated dysphasia Familial developmental dysphasia dextrocardia (disease) heart in right chest heart predominantly in right hemithorax heart tip and four chambers point towards right side of body right sided heart thoracic situs inversus Dextrocardia Bubonic plague diabetes mellitus, 6q24-related transient neonatal diabetes mellitus, transient neonatal 1 diabetes mellitus, transient neonatal, type 1 transient neonatal diabetes mellitus Diabetes mellitus, transient neonatal, 1 alsftd amyotrophic lateral sclerosis and/or frontotemporal dementia c9orf72 frontotemporal dementia with motor neuron disease frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 frontotemporal dementia and/or motor neuron disease frontotemporal dementia with motor neuron disease 1 frontotemporal dementia with motor neuron disease caused by mutation in c9orf72 ftdmnd Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 hereditary lymphedema and yellow nails lymphedema with yellow nails Yellow nail syndrome chromosome xq26.3 duplication syndrome, x-linked dominant familial infantile gigantism due to dup(x)q(26) familial infantile gigantism due to xq26 microduplication x-lag (x-linked acrogigantism) due to dup(x)q(26) x-lag (x-linked acrogigantism) due to xq26 microduplication X-linked acrogigantism due to Xq26 microduplication IHPRF2 UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies hypotonia, infantile, with psychomotor retardation and characteristic facies 2 hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies type 2 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 DNAJC6 Parkinson disease Parkinson disease caused by mutation in DNAJC6 juvenile onset Parkinson disease type 19A Juvenile onset Parkinson disease 19A Parkinson disease caused by mutation in VPS35 Parkinson disease type 17 VPS35 Parkinson disease autosomal dominant Parkinson disease 17 Parkinson disease 17 autoimmune enteropathy type 1 autoimmunity-immunodeficiency syndrome, x-linked diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhoea diarrhea, polyendocrinopathy, fatal infection syndrome, x-linked dmsd immune dysfunction and diarrhea syndrome immune dysfunction and diarrhoea syndrome immune dysregulation-polyendocrinopathy-enteropathy-x-linked syndrome immunodeficiency, polyendocrinopathy, and enteropathy x-linked syndrome immunodeficiency, polyendocrinopathy, and enteropathy, x-linked immunodysregulation, polyendocrinopathy, and enteropathy, x-linked, x-linked recessive ipex ipex and ipex-like x linked polyendocrinopathy x-linked autoimmunity-allergic dysregulation syndrome x-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome x-linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea xlaad xpid Insulin-dependent diabetes mellitus secretory diarrhea syndrome autosomal dominant intellectual disability 42 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome gnb1-related disorder gnb1-related neurodevelopmental disorder intellectual developmental disorder, autosomal dominant 42 intellectual disability, autosomal dominant type 42 mrd42 Intellectual disability, autosomal dominant 42 scm type 1 scm type i split cord malformation type 1 split cord malformation type i split spinal cord Diastematomyelia setd1b-ndd setd1b-related neurodevelopmental disorder Intellectual developmental disorder with seizures and language delay NEDMILG, AR neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities NEDMILEG, AD neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities dibasic amino aciduria type 1 Hyperdibasic aminoaciduria type 1 NEDDFAS Neurodevelopmental disorder with dysmorphic facies and variable seizures dicarboxylic aminoaciduria syndrome glutamate aspartate transport defect Dicarboxylic aminoaciduria cmm10 glioma susceptibility 9 glioma susceptibility type 9 glm9 long telomere syndrome, pot1-related malignant glioma caused by mutation in pot1 melanoma, cutaneous malignant, susceptibility to, 10 melanoma, cutaneous malignant, susceptibility to, type 10 susceptibility to cutaneous malignant melanoma 10 tpds3 Tumor predisposition syndrome 3 parkinson disease 6, modifier of parkinson disease caused by mutation in pink1 pink1 parkinson disease pink1 type of young-onset parkinson disease pink1-related parkinson disease Autosomal recessive early-onset Parkinson disease 6 eruptive neonatal hemangiomatosis multiple progressive angiomata multiple progressive hemangiomata Diffuse neonatal hemangiomatosis cardiomyopathy dilated with conduction defect type 1 cardiomyopathy, dilated, type 1a cdcd1 dilated cardiomyopathy type 1a dilated cardiomyopathy with conduction defect 1 dilated cardiomyopathy with quadriceps myopathy familial dilated cardiomyopathy with conduction defect due to lmna mutation familial isolated dilated cardiomyopathy caused by mutation in lmna lmna familial isolated dilated cardiomyopathy Dilated cardiomyopathy 1A alcohol-responsive dystonia dystonia 11 dystonia, alcohol responsive dystonia-11, myoclonic hereditary essential myoclonus myoclonic dystonia type 11 myoclonus-dystonia myoclonus-dystonia syndrome caused by mutation in sgce sgce myoclonus-dystonia syndrome Myoclonic dystonia 11 autosomal dominant diffuse palmoplantar keratoderma, norrbotten type diffuse palmoplantar keratoderma, bothnian type neppk non-epidermolytic palmoplantar keratoderma Palmoplantar keratoderma, bothnian type epilepsy, generalized, with febrile seizures plus generalised epilepsy with febrile seizures-plus generalized epilepsy with febrile seizures-plus genetic epilepsy with febrile seizures plus genetic epilepsy with febrile seizures-plus Generalized epilepsy with febrile seizures plus hereditary persistence of fetal hemoglobin thalassemia hpfh (hereditary persistence of fetal hemoglobin) beta-thalassemia syndrome hpfh-beta-thalassemia syndrome Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome hereditary persistence of fetal hemoglobin with sickle cell disease syndrome hpfh-sickle cell disease syndrome Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome isolated adenosine triphosphate synthase deficiency mitochondrial complex v (atp synthase) deficiency mitochondrial complex v (atp synthase) deficiency, nuclear type Mitochondrial proton-transporting ATP synthase complex deficiency Familial benign flecked retina deficiency of heptulokinase deficiency of sedoheptulokinase isolated shpk deficiency sedoheptulokinase deficiency shpkd Isolated sedoheptulokinase deficiency CMT2T Charcot-Marie-Tooth disease, axonal, type 2T Charcot-Marie-Tooth neuropathy type 2T DNAJB2-related CMT2 Charcot-Marie-Tooth disease axonal type 2T Amoebiasis due to entamoeba histolytica absent urethral opening atresia of urethra (disease) urethral atresia urethral opening absent Atresia of urethra congenital duplication of digestive organs gastrointestinal duplication gi duplication Digestive duplication Simplexvirus caused infectious embryofetopathy Simplexvirus infectious embryofetopathy antenatal herpes simplex virus infection congenital herpes simplex mother-to-child transmission of herpes simplex virus infection Congenital herpes simplex virus infection hantavirosis hantavirus fever hfrs - hemorrhagic fever with renal syndrome puumala virus nephropathy Hemorrhagic fever-renal syndrome Histoplasma caused disease or disorder Histoplasma disease or disorder Histoplasma infectious disease darling disease Histoplasmosis hereditary keratoacanthoma multiple familial keratoacanthoma multiple keratoacanthoma Familial keratoacanthoma congenital primary megalo-ureter Congenital primary megaureter Plague compound hairs pili multigemini Pili bifurcati Toxoplasma embryofetopathy Toxoplasma embryopathy mother-to-child transmission of toxoplasmosis toxoplasmosis - congen. toxoplasmosis, congenital Congenital toxoplasmosis ipp gelfand syndrome ipp-gelfand syndrome Alopecia antibody deficiency isolated lissencephaly type 1 without known genetic defects Isolated lissencephaly type 1 without known genetic defect radial deficiency, tibial hypoplasia syndrome Radial deficiency-tibial hypoplasia syndrome maternally inherited cardiomyopathy and deafness maternally inherited cardiomyopathy and hearing loss syndrome maternally-inherited cardiomyopathy and deafness mitochondrial dna-related cardiomyopathy and hearing loss mtdna-related cardiomyopathy and deafness mtdna-related cardiomyopathy and hearing loss trna-lys-related cardiomyopathy-hearing loss syndrome Maternally-inherited cardiomyopathy and hearing loss bifid penis penile duplication Diphallia sharma kapoor ramji syndrome sharma-kapoor-ramji syndrome thin ribs, tubular bones, dysmorphism syndrome Thin ribs-tubular bones-dysmorphism syndrome non-distal deletion 10q non-distal monosomy type 10q non-telomeric monosomy 10q Non-distal monosomy 10q Del (5)(q35) Del (5)(qter) deletion type 5q35 distal 5q deletion monosomy 5q35 telomeric deletion 5q Deletion 5q35 distal deletion 7q36 distal monosomy 7q36 syndrome distal monosomy type 7q36 monosomy 7qter telomeric deletion 7q36 Distal monosomy 7q36 distal deletion 9p distal monosomy 9p distal monosomy type 9p monosomy 9pter telomeric deletion 9p Distal monosomy 9p syndrome chromosome xp22.3 microdeletion syndrome del(x)(p23) Xp22.3 microdeletion syndrome familial idiopathic dilatation of right atrium familial idiopathic dilatation of the right atrium (disease) familial idiopathic dilation of right atrium Familial idiopathic dilatation of the right atrium mosaic trisomy 1 syndrome mosaic trisomy chromosome 1 mosaic trisomy type 1 trisomy 1 mosaicism Mosaic trisomy 1 non-distal duplication 10q non-distal trisomy type 10q non-telomeric trisomy 10q Non-distal trisomy 10q non-distal duplication 13q non-distal trisomy type 13q non-telomeric trisomy 13q Non-distal trisomy 13q distal duplication 14q distal trisomy type 14q telomeric duplication 14q trisomy 14qter Distal trisomy 14q deficiency of bisphosphoglycerate synthase deficiency of diphosphoglycerate mutase deficiency of glycerate phosphomutase diphosphoglycerate phosphatase deficiency erythrocytosis, familial, 8 hemolytic anemia due to diphosphoglycerate mutase deficiency Deficiency of bisphosphoglycerate mutase mosaic trisomy 16 syndrome mosaic trisomy chromosome 16 mosaic trisomy type 16 trisomy 16 mosaicism Mosaic trisomy 16 distal duplication 18q distal trisomy type 18q telomeric duplication 18q trisomy 18qter Distal trisomy 18q distal duplication 19q distal trisomy 19q syndrome distal trisomy type 19q telomeric duplication 19q trisomy 19qter Distal trisomy 19q mosaic trisomy type 20 trisomy 20 mosaicism Mosaic trisomy 20 distal duplication 6p distal trisomy 6p syndrome distal trisomy type 6p telomeric duplication 6p trisomy 6pter Distal trisomy 6p fibular dimelia diplopodia syndrome leg duplication mirror foot syndrome leg duplication-mirror foot syndrome Fibular dimelia-diplopodia syndrome 45,x/46,xy disorder of sex development 45,x/46,xy gonadal dysgenesis 45,x/46,xy mgd 45,x0/46,xy mgd 45,x0/46,xy mixed gonadal dysgenesis xy/x0 45,X/46,XY mixed gonadal dysgenesis mcdk mckd - multicystic kidney disease multicystic kidneys multicystic renal dysplasia Multicystic kidney dysplasia Corynebacterium infection Diphtheria fetal toluene syndrome foetal toluene syndrome Toluene embryopathy cleft lip/palate-hearing loss-sacral lipoma syndrome cleft palate and cleft lip with deafness and sacral lipoma syndrome lowry yong syndrome lowry-yong syndrome Cleft lip/palate-deafness-sacral lipoma syndrome median cleft lip/mandibule median cleft lower facial stage Midline cleft of lower lip Copenhagen syndrome Progressive non-infectious anterior vertebral fusion craniofacial duplication diprosopia monocephalus diprosopus Diprosopus dysmorphism, pectus carinatum, joint laxity syndrome guízar vázquez sánchez manzano syndrome guízar vázquez-sánchez-manzano syndrome Dysmorphism-pectus carinatum-joint laxity syndrome craniosynostosis herrmann opitz type Craniosynostosis, herrmann-opitz type hypotrichosis and intellectual disability syndrome lopes type lopes marques de faria syndrome lopes-marques de faria syndrome Hypotrichosis-intellectual disability, lopes type dysmorphism, short stature, deafness, disorder of sex development syndrome dysmorphism, short stature, deafness, pseudohermaphroditism syndrome dysmorphism-short stature-deafness-pseudohermaphroditism syndrome dysmorphism-short stature-hearing loss-disorder of sex development syndrome ieshima-koeda-inagaki syndrome Dysmorphism-short stature-deafness-disorder of sex development syndrome ebs with anodontia/hypodontia epidermolysis bullosa simplex with hypodontia gamborg-nielsen syndrome kallin syndrome kallin's syndrome Epidermolysis bullosa simplex with anodontia/hypodontia kallman syndrome with cardiopathy kallman syndrome with heart disease Kallmann syndrome-heart disease syndrome fried goldberg mundel syndrome fried-goldberg-mundel syndrome lower limb malformation hypospadias syndrome severe lower limb malformation associated with other deformities Lower limb deficiency-hypospadias syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome adult familial nephronophthisis with spastic quadriparesia syndrome Adult familial nephronophthisis-spastic quadriparesia syndrome osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Chromosome 1, uniparental disomy 1q12 q21 pericardial and diaphragmatic defect syndrome Pericardial and diaphragmatic defect congenital poikiloderma with bullae, weary type hereditary acrokeratotic poikiloderma weary syndrome Hereditary acrokeratotic poikiloderma, Weary type 46,xx disorder of sex development with anorectal anomalies syndrome female pseudohermaphroditism with anorectal anomalies syndrome female pseudohermaphroditism-anorectal anomalies syndrome 46,XX disorder of sex development-anorectal anomalies syndrome mirror polydactyly, vertebral segmentation and limb defect syndrome Mirror polydactyly-vertebral segmentation-limbs defects syndrome multiple sclerosis, ichthyosis, factor viii deficiency syndrome Multiple sclerosis-ichthyosis-factor viii deficiency syndrome Tungland-Bellman syndrome Hearing loss-familial salivary gland insensitivity to aldosterone syndrome central nervous system calcification, deafness, tubular acidosis, anemia syndrome central nervous system calcification-hearing loss-tubular acidosis-anemia syndrome yoshimura takeshita syndrome yoshimura-takeshita syndrome Central nervous system calcification-deafness-tubular acidosis-anemia syndrome Telecanthus-hypertelorism-strabismus-pes cavus syndrome isochromosome 5p tetrasomy 5p syndrome tetrasomy type 5p Tetrasomy 5p infection by toxascaris infection caused by toxocara toxocara caused disease or disorder toxocara disease or disorder toxocara infection toxocara infectious disease visceral larva migrans Toxocariasis distal duplication 17q distal trisomy 17q syndrome distal trisomy type 17q telomeric duplication 17q trisomy 17qter Distal trisomy 17q chagas' disease chagas' disease with digestive system involvement chagas' disease with nervous system involvement chagas' disease with other organ involvement t. cruzi infection trypanosoma cruzi caused disease or disorder trypanosoma cruzi disease or disorder trypanosoma cruzi infection trypanosoma cruzi infectious disease Infection by Trypanosoma cruzi idiopathic disseminated cmv infection severe disseminated cmv infection in immunocompetent patients severe disseminated cytomegalovirus infection in immunocompetent patients Idiopathic disseminated cytomegalovirus infection epidermal hamartoma syndrome schimmelpeming feuerstein mims syndrome Epidermal nevus syndrome Staphylococcal scarlet fever Bullous impetigo necrotizing pneumonia caused by panton-valentine leukocidin producing staphylococcus aureus Staphylococcal necrotizing pneumonia familial cad (cervical artery dissection) hereditary cad (cervical artery dissection) Familial cervical artery dissection dissecting cellulitis of scalp dissecting cellulitis of the scalp folliculitis abscedens et suffodiens perifolliculitis capitis abscedens perifolliculitis of scalp perifolliculitis of the scalp Perifolliculitis capitis abscedens et suffodiens basel vanagaite sirota syndrome basel-vanagaite-sirota syndrome microlissencephaly micromelia syndrome Microlissencephaly-micromelia syndrome ahn lerman sagie syndrome ahn-lerman-sagie syndrome zellweger-like syndrome without peroxisomal anomaly Zellweger-like syndrome without peroxisomal anomalies duane anomaly, myopathy, scoliosis syndrome verloes deprez syndrome Duane anomaly-myopathy-scoliosis syndrome benson syndrome biparietal alzheimer disease pca posterior cortical atrophy syndrome Posterior cortical atrophy sarcocystiosis sarcosporidiasis sarcosporidiosis Sarcocystosis Streptococcus pneumoniae caused infectious meningitis Streptococcus pneumoniae infectious meningitis Pneumococcal meningitis fibrous dysplasia of bone with intramuscular myxoma fibrous dysplasia with intramuscular myxoma myxoma with fibrous dysplasia Mazabraud syndrome acrofacial dysostosis kennedy teebi type kennedy teebi syndrome kennedy-teebi syndrome Acrofacial dysostosis, kennedy-teebi type ldb3 myofibrillar myopathy (disease) myofibrillar myopathy (disease) caused by mutation in ldb3 myofibrillar myopathy type 4 myopathy, myofibrillar, type 4 zasp-related myofibrillar myopathy zaspopathy zaspopathy (type) Myofibrillar myopathy 4 bartonella quintana caused disease or disorder bartonella quintana disease or disorder bartonella quintana infectious disease bartonellosis due to bartonella quintana infection febris quintata fever due to bartonella quintana fever due to rochalimaea quintana five day fever his-werner disease quintan fever shin bone fever tibialgic fever wolhynian fever Trench fever short fifth metacarpal insulin resistance syndrome Short fifth metacarpals-insulin resistance syndrome sensorineural deafness-early graying-essential tremor syndrome sensorineural hearing loss, early graying, essential tremor syndrome Sensorineural hearing loss-early graying-essential tremor syndrome matr3-related distal myopathy matrin 3 distal myopathy myopathia distalis type 2 vcpdm vcpdm - vocal cord and pharyngeal distal myopathy vocal cord and pharyngeal dysfunction with distal myopathy Distal myopathy with vocal cord weakness alloimmune neonatal renal disease congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization fetomaternal alloimmunization with antenatal glomerulopathies fmaig neonatal glomerulopathy due to neprilysin alloimmunization neonatal membranous glomerulopathy with maternal nep deficiency neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization acute bilateral depigmentation of iris badi Bilateral acute depigmentation of the iris antenatal ebv infection antenatal epstein-barr virus infection congenital ebv infection congenital infection caused by epstein-barr virus congenital infection caused by human herpesvirus 4 mother-to-child transmission of epstein-barr virus infection Congenital epstein-barr virus infection Retinal capillary malformation dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome disease due to trematoda distomiasis fluke disease fluke infection infection by trematode trematode infection trematode infestation trematodosis Distomatosis Benign paroxysmal torticollis of infancy global developmental delay, osteopenia, ectodermal defect syndrome Global developmental delay-osteopenia-ectodermal defect syndrome kidney tubulopathy-dilated cardiomyopathy syndrome tubular renal disease with cardiomyopathy syndrome Tubular renal disease-cardiomyopathy syndrome ossification anomaly with psychomotor developmental delay syndrome Ossification anomalies-psychomotor developmental delay syndrome spinal muscular atrophy, dandy-walker malformation, cataract syndrome Spinal muscular atrophy-dandy-walker malformation-cataracts syndrome visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Oligocone syndrome Oligocone trichromacy brain malformation, congenital heart disease, postaxial polydactyly syndrome goossens devriendt syndrome goossens-devriendt syndrome Brain malformation-congenital heart disease-postaxial polydactyly syndrome angio-osteohypotrophic syndrome phlebectatic osteohypoplastic angiodysplasia servelle martorell syndrome servelle-martorell syndrome Angioosteohypotrophic syndrome 6q terminal deletion syndrome auricular abnormality, cleft lip, ocular abnormality syndrome Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 9q22.3 deletion syndrome 9q22.3 microdeletion microdeletion 9q22.3 monosomy 9q22.3 syndrome Monosomy 9q22.3 folinic acid responsive seizure syndrome folinic acid responsive seizures Folinic acid-responsive seizures dk phocomelia syndrome phocomelia, thrombocytopenia, encephalocele and urogenital malformation syndrome phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome Von voss-cherstvoy syndrome trichodysplasia with amelogenesis imperfecta syndrome Trichodysplasia-amelogenesis imperfecta syndrome nonsyndromic cleft palate Isolated cleft palate Early-onset zonular cataract dbs/foar syndrome diaphragmatic hernia-exomphalos-corpus callosum agenesis diaphragmatic hernia-exomphalos-hypertelorism syndrome diaphragmatic hernia-hypertelorism-myopia-deafness syndrome diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome facio-oculo-acoustico-renal syndrome faciooculoacousticorenal syndrome foar syndrome holmes-schepens syndrome syndrome of ocular and facial anomalies, telecanthus and deafness syndrome of ocular and facial anomalies, telecanthus and hearing loss Donnai-barrow syndrome dihydrothymine dehydrogenase deficiency dihydrouracil dehydrogenase (nadp) deficiency dihydrouracil dehydrogenase (nadp^+^) deficiency dihydrouracil dehydrogenase (nicotinamide adenine dinucleotide phosphate ^+^) deficiency dpd - dihydropyrimidine dehydrogenase deficiency dpydd dypd deficiency familial pyrimidinaemia familial pyrimidinemia sensitivity to fluorouracil toxicity Dihydropyrimidine dehydrogenase deficiency autosomal recessive dopa-responsive dystonia autosomal recessive infantile parkinsonism dopa-responsive dystonia, autosomal recessive dyt-th dyt5b segawa syndrome, recessive th-deficient dopa-responsive dystonia tyrosine hydroxylase-deficient dopa-responsive dystonia Autosomal recessive DOPA responsive dystonia pili multigemini Pili gemini congenital dopamine beta-hydroxylase deficiency dbh deficiency dopamine beta-hydroxylase deficiency noradrenaline deficiency norepinephrine deficiency orthostatic hypotension 1, due to dbh deficiency orthyp1 Orthostatic hypotension 1 kew gardens spotted fever rickettsia akari spotted fever rickettsialpox due to rickettsia akari vesicular rickettsiosis Rickettsialpox classical typhus epidemic typhus european typhus exanthematic typhus fleckfieber louse-borne epidemic typhus louse-borne typhus louse-borne typhus fever sylvatic typhus tabardillo tifus exanthematico typhus due to rickettsia prowazekii Epidemic louse-borne typhus cat flea rickettsiosis flea-born typhus flea-borne typhus fleaborne typhus murine endemic flea typhus murine typhus rat-flea typhus rickettsia felis spotted fever toulon typhus typhus due to rickettsia typhi urban typhus urban typhus of malaya Endemic typhus infection caused by rickettsia felis Pseudotyphus of california japanese river fever kedani fever mite-borne typhus due to rickettsia tsutsugamushi scrub mite-borne typhus tsutsugamushi tsutsugamushi disease tsutsugamushi fever Scrub typhus 17-linked subcortical band heterotopia band heterotopia dc syndrome dcx-related subcortical band heterotopia heco heterotopic cortex sbh subcortical laminar heterotopia Subcortical band heterotopia encephalitis caused by mycoplasma pneumoniae mycoplasma pneumoniae caused infectious encephalitis mycoplasma pneumoniae encephalitis mycoplasma pneumoniae infectious encephalitis Mycoplasma encephalitis encephalitis, st-louis neuroinvasive saint louis encephalitis virus infection neuroinvasive st. louis encephalitis virus infection saint louis encephalitis saint louis encephalitis virus infection sle - saint louis encephalitis st. louis encephalitis virus caused infectious encephalitis st. louis encephalitis virus infection st. louis encephalitis virus infectious encephalitis st. louis encephalitis virus neuroinvasive disease st. louis viral disease type c lethargic encephalitis St. louis encephalitis american mountain fever american mountain tick fever colorado tick encephalitis colorado tick fever virus caused disease or disorder colorado tick fever virus disease or disorder colorado tick fever virus infectious disease colorado tick-borne disease ctf - colorado tick fever mountain fever mountain tick fever tick fever, american mountain Colorado tick fever Progressive rubella panencephalitis macrostomia, preauricular tag, external ophthalmoplegia syndrome Macrostomia-preauricular tags-external ophthalmoplegia syndrome lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome lumbar syndrome pelvis (perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus) syndrome perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome sacral syndrome urorectal septum malformation sequence Pelvis syndrome idiopathic bile acid malabsorption intestinal malabsorption due to bile acid synthesis defect Idiopathic malabsorption due to bile acid synthesis defects craniofacial conodysplasia syndrome Craniofacial conodysplasia Astley-Kendall dysplasia Dysspondyloenchondromatosis ischio-spinal dysostosis ischio-vertebral dysplasia Ischio-vertebral syndrome x-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome x-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome johnson syndrome x-linked intellectual disability, macrocephaly, macroorchidism syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome x-linked intellectual disability pai type X-linked intellectual disability, Pai type x-linked intellectual disability seemanova type X-linked intellectual disability, Seemanova type x-linked intellectual disability stevenson type X-linked intellectual disability, Stevenson type x-linked intellectual disability stoll type X-linked intellectual disability, Stoll type x-linked intellectual disability with acromegaly and hyperactivity syndrome X-linked intellectual disability-acromegaly-hyperactivity syndrome x-linked neurodegenerative syndrome bertini type X-linked neurodegenerative syndrome, Bertini type x-linked neurodegenerative syndrome hamel type X-linked neurodegenerative syndrome, Hamel type x-linked intellectual disability with ataxia and apraxia syndrome X-linked intellectual disability-ataxia-apraxia syndrome lissencephaly type 3 familial fetal akinesia sequence syndrome Lissencephaly type 3-familial fetal akinesia sequence syndrome dolv dolv - double outlet left ventricle double outlet left ventricle (disease) origin of both great vessels from left ventricle Double outlet left ventricle dextrotransposition of aorta dorv dorv - double outlet right ventricle double-outlet right ventricle origin of both great vessels from right ventricle transposition of great vessels, interventricular septal defect and overriding aorta Double outlet right ventricle hypothalamic hamartoma with gelastic seizure Hypothalamic hamartomas with gelastic seizures ema ema - epilepsy with myoclonic absence epilepsy with myoclonic absence myoclonic absence epilepsy Epilepsy with myoclonic absences myoclonic epilepsy in non-progressive encephalopathy myoclonic status in non-progressive encephalopathies myoclonus epilepsy in non-progressive encephalopathies Myoclonic epilepsy in non-progressive encephalopathies diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome diffuse palmoplantar keratoderma and acrocyanosis syndrome diffuse palmoplantar keratoderma-acrocyanosis syndrome Diffuse palmoplantar keratoderma - acrocyanosis syndrome obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome early-onset hypertension with exacerbation in pregnancy hypertension due to gain-of-function mutations in the mineralocorticoid receptor hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy Pseudohyperaldosteronism type 2 Double uterus and obstructed hemivagina syndrome Herlyn-Werner syndrome OHVIRA syndrome Wunderlich syndrome obstructed hemivagina and ipsilateral renal anomaly Double uterus-hemivagina-renal agenesis syndrome hb-d disease hemoglobin d-d disease Hemoglobin d disease dhrd dominant drusen dominant radial drusen doyne honeycomb degeneration of retina doyne's honeycomb choroiditis hereditary dominant drusen retinal dystrophy malattia leventinese Doyne honeycomb retinal dystrophy ar-cmt2, ouvrier type autosomal recessive charcot-marie-tooth disease ouvrier type autosomal recessive charcot-marie-tooth disease, ouvrier type seoan due to mfn2 deficiency severe early-onset axonal neuropathy due to mfn2 (mitofusin 2) deficiency severe early-onset axonal neuropathy due to mitofusin 2 deficiency Severe early-onset axonal neuropathy due to mfn2 deficiency AR-CMT2 with acrodystrophy HMSN with acrodystrophy autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy Hereditary motor and sensory neuropathy with acrodystrophy Drachtman Weinblatt Sitarz syndrome chilblain lupus erythematosus chle hutchinson lupus lupus pernio sarcoidosis, lupus pernio type Chilblain lupus congenital diverticulum of esophagus congenital esophageal pouch Congenital esophageal diverticulum ankyloblepharon filiforme adnatum Isolated ankyloblepharon filiforme adnatum congenital iris ectropion Congenital ectropion uveae hereditary dermatitis herpetiformis Dermatitis herpetiformis, familial Relapsing fever congenital hypoplasia of kidney hypoplastic kidney hypoplastic kidneys renal hypoplasia (disease) small kidneys underdeveloped kidneys Renal hypoplasia congenital renal dysplasia dysplasia of kidney dysplastic kidney dysplastic kidneys kidney dysplasia renal adysplasia renal dysplasia (disease) Renal dysplasia congenital longitudinal deficiency of the ulna longitudinal deficiency of ulna longitudinal reduction defect of ulna ulnar clubhand ulnar longitudinal meromelia Ulnar hemimelia cataract-intellectual disability-anal atresia-urinary defects syndrome congenital cataract with intellectual disability and anal atresia and urinary defect syndrome karandikar-maria-kamble syndrome Karandikar Maria Kamble syndrome cranial dystonia Oromandibular dystonia humeral ulnar synostosis humero-ulnar fusion humero-ulnar synostosis Humeroulnar synostosis severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia miras miras - mitochondrial recessive ataxia syndrome Recessive mitochondrial ataxia syndrome Partial duplication of the long arm of chromosome 12 Idiopathic congenital hypothyroidism hypertelorism-hypospadias syndrome hypertelorism-oesophageal abnormality-hypospadias syndrome hypospadias-dysphagia syndrome hypospadias-hypertelorism syndrome opitz bbb/g syndrome opitz g syndrome opitz gbbb syndrome opitz syndrome opitz-frias syndrome opitz-gbbb syndrome Opitz G/BBB syndrome mosaic trisomy 4 syndrome mosaic trisomy chromosome 4 mosaic trisomy type 4 trisomy 4 mosaicism Mosaic trisomy 4 mosaic trisomy 5 syndrome mosaic trisomy chromosome 5 mosaic trisomy type 5 trisomy 5 mosaicism Mosaic trisomy 5 mosaic trisomy 10 syndrome mosaic trisomy chromosome 10 mosaic trisomy type 10 trisomy 10 mosaicism uniparental disomy of 10 Mosaic trisomy 10 distal duplication 1p36 distal trisomy 1p36 syndrome distal trisomy type 1p36 telomeric duplication 1p36 trisomy 1pter Distal trisomy 1p36 distal duplication 2p distal trisomy type 2p telomeric duplication 2p trisomy 2pter Distal trisomy 2p distal duplication 3p distal trisomy type 3p telomeric duplication 3p trisomy 3pter Distal trisomy 3p distal duplication 4p distal trisomy 4p telomeric duplication 4p trisomy 4pter 4p16.3 microduplication syndrome distal duplication 7p distal trisomy 7p syndrome distal trisomy type 7p telomeric duplication 7p trisomy 7pter Distal trisomy 7p 8p inverted duplication deletion syndrome invdupdel(8p) inverted 8p duplication/deletion syndrome 8p inverted duplication/deletion syndrome distal duplication 2q distal trisomy type 2q telomeric duplication 2q trisomy 2qter Distal trisomy 2q Cornelia de Lange-like syndrome dup(3)(q26) dup(3q) syndrome trisomy 3q26 3q26 microduplication syndrome distal duplication 4q distal trisomy type 4q telomeric duplication 4q trisomy 4qter Distal trisomy 4q distal duplication 5q distal trisomy 5q syndrome distal trisomy type 5q telomeric duplication 5q trisomy 5qter Distal trisomy 5q Chromosome 6, Partial Trisomy 6q distal duplication 6q distal trisomy type 6q telomeric duplication 6q trisomy 6qter Distal trisomy 6q distal duplication 8q distal trisomy type 8q telomeric duplication 8q trisomy 8qter Distal trisomy 8q distal duplication 9q distal trisomy type 9q telomeric duplication 9q trisomy 9qter Distal trisomy 9q Chromosome 10, Distal Trisomy 10q distal duplication 10q distal trisomy type 10q telomeric duplication 10q trisomy 10qter Distal trisomy 10q Chromosome 11, Partial Trisomy 11q distal duplication 11q distal trisomy type 11q telomeric duplication 11q trisomy 11qter Distal trisomy 11q distal duplication 13q distal trisomy type 13q telomeric duplication 13q trisomy 13qter Distal trisomy 13q distal duplication 16q distal trisomy type 16q telomeric duplication 16q trisomy 16qter Distal trisomy 16q distal duplication 20q distal trisomy 20q syndrome distal trisomy type 20q telomeric duplication 20q trisomy 20qter Distal trisomy 20q distal duplication 22q distal trisomy 22q syndrome distal trisomy type 22q telomeric duplication 22q trisomy 22qter Distal trisomy 22q non-distal duplication 9q non-distal trisomy type 9q non-telomeric trisomy 9q Non-distal trisomy 9q del(22) deletion 22 monosomy 22 syndrome monosomy type 22 Monosomy 22 distal deletion 7p distal monosomy 7p syndrome distal monosomy type 7p monosomy 7pter telomeric deletion 7p Distal monosomy 7p distal deletion 19p telomeric deletion 19p Distal monosomy 19p13.3 distal deletion 4q distal monosomy type 4q monosomy 4qter telomeric deletion 4q Distal monosomy 4q distal deletion 14q distal monosomy 14q syndrome distal monosomy type 14q telomeric deletion 14q Distal monosomy 14q non-distal deletion 12q non-distal monosomy type 12q non-telomeric monosomy 12q Non-distal monosomy 12q UPD(2)mat maternal uniparental disomy of chromosome type 2 Maternal uniparental disomy of chromosome 2 UPD(4)mat maternal uniparental disomy of chromosome type 4 Maternal uniparental disomy of chromosome 4 UPD(6)mat maternal uniparental disomy of chromosome type 6 Maternal uniparental disomy of chromosome 6 UPD(9)mat maternal uniparental disomy of chromosome type 9 Maternal uniparental disomy of chromosome 9 UPD(16)mat maternal uniparental disomy of chromosome type 16 Maternal uniparental disomy of chromosome 16 maternal uniparental disomy of chromosome type 21 upd(21)mat upd(21)mat - maternal uniparental disomy of chromosome 21 Maternal uniparental disomy of chromosome 21 maternal uniparental disomy of chromosome type 22 upd(22)mat upd(22)mat - maternal uniparental disomy of chromosome 22 Maternal uniparental disomy of chromosome 22 UPD(5)pat paternal uniparental disomy of chromosome type 5 Paternal uniparental disomy of chromosome 5 UPD(6)pat paternal uniparental disomy of chromosome type 6 Paternal uniparental disomy of chromosome 6 UPD(7)pat paternal uniparental disomy of chromosome type 7 Paternal uniparental disomy of chromosome 7 paternal uniparental disomy of chromosome type 20 paternal upd(20) paternal upd20 paternal upd20 (uniparental disomy of chromosome 20) upd(20)pat Paternal uniparental disomy of chromosome 20 UPD(21)pat paternal uniparental disomy of chromosome type 21 Paternal uniparental disomy of chromosome 21 small ring x chromosome X small rings Zebra body myopathy Persistent placoid maculopathy UPD(13)mat maternal uniparental disomy of chromosome type 13 Maternal uniparental disomy of chromosome 13 gaba aminotransaminase deficiency gaba aminotransferase deficiency gaba transaminase deficiency gabatd gamma-amino butyric acid transaminase deficiency Gamma-aminobutyric acid transaminase deficiency adynamia episodica hereditaria adynamia episodica hereditaria with or without myotonia familial hyperkalemic periodic paralysis (disorder) [ambiguous] familial hyperpp gamstorp disease gamstorp episodic adynamy hyperkalemic periodic paralysis, type 2 hyperkalemic pp hyperkpp hyperpp hypp normokalemic periodic paralysis, potassium-sensitive periodic hyperkalemic paralysis periodic paralysis ii primary hyperkalemic periodic paralysis primary hyperpp Familial hyperkalemic periodic paralysis isochromosome yp Isochromosomy Yp Isochromosomy Yq cleft eyelid coloboma of eyelid coloboma of lid coloboma palpebrale congenital notching of palpebral fissure full thickness defect of the eyelid notched eyelid palpebral coloboma Eyelid coloboma Congenital hereditary endothelial dystrophy type I multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus multifocal pattern dystrophy simulating stargardt disease Multifocal pattern dystrophy simulating fundus flavimaculatus Fundus pulverulentus adenosine deaminase, elevated, hemolytic anaemia due to adenosine deaminase, elevated, hemolytic anemia due to anemia, congenital, nonspherocytic hemolytic, 9 cnsha9 erythrocyte ada, elevated, hemolytic anemia due to Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Epiblepharon congenital tarsal kink Tarsal kink syndrome nonsyndromic congenital ectropion Isolated congenital ectropion kabuki syndrome eyelids Euryblepharon congenital abnormal retraction of eyelid Congenital eyelid retraction UPD(13)pat paternal uniparental disomy of chromosome type 13 Paternal uniparental disomy of chromosome 13 49,XYYYY syndrome generalised enchondromatosis with platyspondyly Cheirospondyloenchondromatosis Dermotrichic syndrome hippocampal sclerosis-related mesial temporal lobe epilepsy hs-mtle mtle-hs mtle-hs - mesial temporal lobe epilepsy with hippocampal sclerosis Mesial temporal lobe epilepsy with hippocampal sclerosis bifid palatine uvula bifidity of the uvula cleft of uvula cleft uvula forked uvula split uvula uvula bifida uvular cleft Bifid uvula LF Lassa hemorrhagic fever Lassa fever infection caused by nipah virus nipah encephalitis nipah fever nipah virus infectious disease Nipah virus disease cchf cchf - crimean-congo hemorrhagic fever central asian hemorrhagic fever chf - crimean hemorrhagic fever chf congo virus congo fever congo hemorrhagic fever crimean hemorrhagic fever crimean hemorrhagic fever [chf congo virus] crimean-congo haemorrhagic fever viral hemorrhagic fever, crimean-congo Crimean-Congo hemorrhagic fever congenital syringomyelia Primary syringomyelia Cushing syndrome due to ectopic ACTH secretion adrenocorticotropic hormone secretion syndrome ectopic ACTH secreting tumor ectopic ACTH secreting tumour occult ectopic ACTH secretion paraneoplastic Cushing syndrome Ectopic cushing syndrome developmental delay, epilepsy, neonatal diabetes syndrome, intermediate form developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form intermediate dend (developmental delay, epilepsy, neonatal diabetes) syndrome Intermediate dend syndrome lissencephaly co-occurrent with congenital cerebellar hypoplasia type a Lissencephaly with cerebellar hypoplasia type a lissencephaly co-occurrent with congenital cerebellar hypoplasia type b Lissencephaly with cerebellar hypoplasia type b lissencephaly co-occurrent with congenital cerebellar hypoplasia type c Lissencephaly with cerebellar hypoplasia type c lissencephaly co-occurrent with congenital cerebellar hypoplasia type d Lissencephaly with cerebellar hypoplasia type d lissencephaly co-occurrent with congenital cerebellar hypoplasia type e Lissencephaly with cerebellar hypoplasia type e lissencephaly co-occurrent with congenital cerebellar hypoplasia type f Lissencephaly with cerebellar hypoplasia type f duplication cyst of esophagus Esophageal duplication cyst congenital tubular duplication of esophagus Tubular duplication of the esophagus double urethra Duplication of urethra FRAXF syndrome familial spinal muscular atrophy kugelberg welander syndrome sma iii sma type 3 sma type iii sma-iii sma3 spinal muscular atrophy type iii spinal muscular atrophy, familial spinal muscular atrophy, type iii spinal muscular atrophy, type iii, modifier of spinal muscular atrophy-3 type iii spinal muscular atrophy Kugelberg-Welander disease maltase-glucoamylase deficiency Chronic diarrhea due to glucoamylase deficiency Congenital enterocyte heparan sulfate deficiency segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome solamen syndrome Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome intractable diarrhea with choanal atresia and eye anomaly syndrome Intractable diarrhea-choanal atresia-eye anomalies syndrome cardiac anomaly and heterotaxy syndrome Cardiac anomalies-heterotaxy syndrome madras-type motor neurone disease mmnd Madras motor neuron disease leukoencephalopathy co-occurrent with bilateral anterior temporal lobe cysts Leukoencephalopathy with bilateral anterior temporal lobe cysts Progressive cavitating leukoencephalopathy peripheral neuropathy with sensorineural hearing impairment syndrome Neuropathy with hearing impairment hereditary sensory and autonomic neuropathy with hearing loss and global delay hsan (hereditary sensory and autonomic neuropathy) with deafness and global delay hsan with deafness and global delay hsan with hearing loss and global delay Hereditary sensory and autonomic neuropathy with deafness and global delay dykes-markes-harper syndrome dykes-marks-harper syndrome ichthyosis hepatosplenomegaly cerebellar degeneration ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome Ichthyosis, cerebellar degeneration and hepatosplenomegaly Linear atrophoderma of moulin Dyschondrosteosis-nephritis syndrome Cosack syndrome Glossopalatine ankylosis dyschromatosis universalis Dyschromatosis universalis hereditaria isolated congenital maxillomandibular fusion Isolated congenital syngnathia median cleft lip and cleft of alveolar process of maxilla Median cleft of the upper lip and maxilla infraorbital facial cleft - tessier cleft 5 Tessier number 5 facial cleft infraorbital facial cleft - tessier cleft 6 tessier facial cleft number 6 Tessier number 6 facial cleft midline brainstem cleft Midline cervical cleft cleft upper eyelid coloboma of superior eyelid coloboma of the upper eyelid coloboma of upper eyelid full thickness defect of the upper eyelid notched upper eyelid superior palpebral coloboma upper eyelid colobomas Upper eyelid coloboma cleft lower eyelid coloboma of inferior eyelid coloboma of lower eyelid full thickness defect of the lower eyelid inferior palpebral coloboma lower lid coloboma notched lower eyelid Lower eyelid coloboma camrq camrq syndrome cerebellar ataxia, intellectual disability, and dysequilibrium cerebellar ataxia, intellectual disability, dysequilibrium syndrome cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome des - dysequilibrium syndrome dialysis dysequilibrium syndrome disequilibrium syndrome non-progressive cerebellar ataxia, intellectual disability syndrome non-progressive cerebellar ataxia-intellectual disability syndrome uner tan syndrome uts Dysequilibrium syndrome anemia, congenital dyserythropoietic cda cda - congenital dyserythropoietic anemia congenital dyshaematopoietic anaemia congenital dyshaematopoietic anemia Congenital dyserythropoietic anemia csc csc - central serous choroidopathy cscr csr - central serous retinopathy Central serous chorioretinopathy cda i cda type 1 cda type i congenital dyserythropoietic anemia type 1 congenital dyserythropoietic anemia type i Congenital dyserythropoietic anemia, type I cda ii cda type 2 cda type ii congenital dyserythropoietic anemia, type ii dyserythropoietic anemia, congenital, type ii hempas - hereditary erythroblast multinuclearity with positive acid serum test hereditary erythroblast multinuclearity with positive acid serum test hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) Congenital dyserythropoietic anemia type 2 epithelioid hemangioendothelioma, malignant malignant epithelioid hemangioendothelioma Epithelioid hemangioendothelioma congenital pseudarthrosis of the limbs congenital pseudoarthrosis of limb Congenital pseudoarthrosis of the limbs cda iii cda type 3 cda type iii cdan3a congenital dyserythropoietic anemia type 3 congenital dyserythropoietic anemia type iii dyserythropoietic anemia, congenital, type iii Congenital dyserythropoietic anemia, type III dysferlinopathy Qualitative or quantitative defects of dysferlin dysfibrinogenemia hereditary dysfibrinogenemia hypodysfibrinogenemia Familial dysfibrinogenemia Extragonadal germinoma late-onset infantile spasms Cryptogenic late-onset epileptic spasms x-linked intellectual disability cilliers type x-linked intellectual disability, microcephaly, testicular failure syndrome x-linked intellectual disability-microcephaly-testicular failure syndrome X-linked intellectual disability, Cilliers type infestation of wound caused by fly larvae traumatic myiasis Wound myiasis infestation of body cavity caused by fly larvae Cavitary myiasis dkcx dyskeratosis congenita, x-linked, x-linked recessive Dyskeratosis congenita, x-linked Benign partial epilepsy of infancy with complex partial seizures Benign partial epilepsy with secondarily generalized seizures in infancy benign infantile seizure with mild gastroenteritis syndrome Benign infantile seizures associated with mild gastroenteritis bimse bimse - benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile focal epilepsy with midline spikes and waves during sleep dysmorphism, cleft palate, loose skin syndrome facial dysmorphism, cleft palate, loose skin syndrome Dysmorphism-cleft palate-loose skin syndrome dysplasia epiphysealis capitis femoris dysplasia of head of femur meyer type meyer dysplasia meyer dysplasia of femoral head Dysplasia of head of femur, meyer type blepharochalasis and Double type lip blepharochalasis-double lip syndrome Ascher syndrome immunoglobulin maturational delay newborn gammaglobulin deficiency thi thi - transient hypogammaglobulinemia of infancy Transient hypogammaglobulinemia of infancy Dysosteosclerosis congenital duplication of rectum Rectal duplication microcephaly, polymicrogyria, corpus callosum agenesis syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome 6q16 microdeletion syndrome del(6)(q16) monosomy 6q16 obesity due to 6q16 deletion prader-willi-like syndrome due to deletion 6q16 prader-willi-like syndrome due to microdeletion 6q16 6q16 deletion syndrome berant syndrome capra demarco syndrome capra-demarco syndrome craniosynostosis, hydrocephalus, arnold chiari i malformation, radioulnar synostosis familial scaphocephaly with radioulnar synostosis syndrome familial scaphocephaly-radioulnar synostosis syndrome Craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome Myopathy with hexagonally cross-linked tubular arrays osteosclerosis, developmental delay, craniosynostosis syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome 'antithrombin' pittsburgh pi pittsburgh Hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation Peripheral dysostosis autosomal dominant osteosclerosis, stanescu type craniofacial dysostosis-diaphyseal hyperplasia syndrome dysostosis, stanescu type stanescu osteosclerosis Osteosclerosis - Stanescu type complete unilateral Mullerian aplasia complete unilateral Müllerian aplasia complete unilateral aplasia of the Mullerian ducts complete unilateral aplasia of the Müllerian ducts unicornuate uterus without rudimentary horn True unicornuate uterus incomplete unilateral aplasia of mullerian ducts incomplete unilateral aplasia of the mullerian ducts incomplete unilateral aplasia of the müllerian ducts incomplete unilateral mullerian aplasia incomplete unilateral müllerian aplasia unicornuate uterus with rudimentary horn Pseudounicornuate uterus trevor disease trevor's disease Dysplasia epiphysealis hemimelica Kozlowski-Tsuruta syndrome Dysplastic cortical hyperostosis, kozlowski-tsuruta type dyssegmental dysplasia dyssegmental dysplasia silverman handmaker type silverman-handmaker type dyssegmental dysplasia Lethal Kniest-like syndrome dystonia 1, modifier of dystonia musculorum deformans dystonia-1, torsion dyt-tor1a dyt1 early-onset primary dystonia early onset primary dystonia early onset torsion dystonia early-onset generalised torsion dystonia early-onset generalized torsion dystonia early-onset isolated dystonia early-onset primary dystonia (dyt1) eotd idiopathic dystonia oppenheim dystonia oppenheim's dystonia torsion dystonia type 1 Early-onset generalized limb-onset dystonia dystonic disorder caused by mutation in hpca hpca dystonic disorder primary dystonia dyt2 type primary dystonia type 2 torsion dystonia type 2 Torsion dystonia 2 ear, patella, short stature syndrome ear-patella-short stature syndrome mgors1 microtia, absent patellae, micrognathia syndrome Meier-Gorlin syndrome 46, xy 46,xx/46,xy chimerism chimera 46, xx Tetragametic chimerism isolated autosomal dominant hypomagnesemia glaudemans type Isolated autosomal dominant hypomagnesemia, glaudemans type congenital muscular dystrophy paradas type congenital myopathy paradas type Congenital myopathy, paradas type ebola ebola fever ebola virus disease ebolavirus caused disease or disorder ebolavirus disease or disorder ebolavirus infectious disease ehf evd - ebola virus disease viral hemorrhagic fever, ebola Ebola hemorrhagic fever symptomatic form of muscular dystrophy of duchenne and becker in female carrier Symptomatic form of muscular dystrophy of duchenne and becker in female carriers Dieterich's disease Dieterich disease Ectodermal dysplasia alopecia preaxial polydactyly berlin syndrome ectodermal dysplasia berlin type ectodermal dysplasia, berlin type leukomelanoderma, infantilism, intellectual disability, hypodontia, hypotrichosis Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency benign familial nocturnal alternating hemiplegia in childhood Benign familial nocturnal alternating hemiplegia of childhood leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Ectodermal dysplasia-blindness syndrome congenital ankylosis of temporomandibular joint congenital trismus Congenital temporomandibular joint ankylosis Hereditary site-specific ovarian cancer syndrome ad-hed autosomal dominant anhidrotic ectodermal dysplasia autosomal dominant hypohidrotic ectodermal dysplasia syndrome hypohidrotic ectodermal dysplasia, autosomal dominant Autosomal dominant hypohidrotic ectodermal dysplasia alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections another (alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy, respiratory tract infection) syndrome another syndrome hedh syndrome hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome macrothrombocytopenia with mitral valve insufficiency Macrothrombocytopenia with mitral valve insufficiency ABSN acute bilateral striatal necrosis sporadic IBSN sporadic infantile striatonigral degeneration sporadic infantile striatonigral necrosis Sporadic infantile bilateral striatal necrosis Ectodermal dysplasia, trichoodontoonychial type clouston's hidrotic ectodermal dysplasia clouston's syndrome ectodermal dysplasia 2, hidrotic gjb6 hidrotic ectodermal dysplasia hidrotic ectodermal dysplasia syndrome Clouston syndrome hypothyroidism due to mutation in transcription factor of pituitary development Hypothyroidism due to deficient transcription factors involved in pituitary development or function ar-hed autosomal recessive anhidrotic ectodermal dysplasia hypohidrotic autosomal recessive ectodermal dysplasia hypohidrotic ectodermal dysplasia, autosomal recessive Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Fusarium caused disease or disorder Fusarium disease or disorder Fusarium infection Fusarium infectious disease Fusariosis hereditary anetoderma hereditary macular atrophy Familial anetoderma Cyclosporine-induced folliculodystrophy TS VATS pilomatrix dysplasia trichodysplasia spinulosa Virus-associated trichodysplasia spinulosa ptosis, upper ocular movement limitation, absence of lacrimal punctum syndrome Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome PHD syndrome Polyvalvular heart disease syndrome dup(5)(q35) trisomy 5q35 5q35 microduplication syndrome autosomal recessive medullary cystic disease juvenile nephronophthisis medullary cystic disease medullary cystic kidney nephronophthisis (disease) Nephronophthisis ECTOL2 ectopia lentis, isolated, autosomal recessive Ectopia lentis 2, isolated, autosomal recessive c-beta-thalassemia hbc-beta-thalassemia syndrome hemoglobin c-f disease thalassemia-hemoglobin c disease Hemoglobin c-beta-thalassemia syndrome beta e thalassemia double heterozygous for hb e and beta thalassemia e-beta-thalassemia hbe-beta-thalassemia syndrome hemoglobin e-beta-thalassemia syndrome Hemoglobin E/beta thalassemia disease epibulbar lipodermoid, preauricular appendage, polythelia syndrome Epibulbar lipodermoid-preauricular appendage-polythelia syndrome idiopathic hypogonadotropic hypogonadism isolated congenital gonadotropin deficiency isolated gonadotropin-releasing hormone deficiency nonsyndromic congenital hypogonadotropic hypogonadism Isolated congenital hypogonadotropic hypogonadism anthrax pneumonia inhalation anthrax disease pneumonia with anthrax pulmonary anthrax respiratory anthrax respiratory anthrax disease wool-sorters' disease woolsorters' disease Inhalational anthrax autosomal recessive secondary erythrocytosis not associated with VHL gene autosomal recessive secondary erythrocytosis, non-Chuvash type autosomal recessive secondary polycythemia, non-Chuvash type Autosomal recessive secondary polycythemia not associated with vhl gene isolated delta-SPD isolated dense-SPD isolated dense-storage pool disease Isolated delta-storage pool disease ectrodactyly polydactyly ectrodactyly-polydactyly Ectrodactyly-polydactyly syndrome autosomal dominant optic atrophy and peripheral neuropathy syndrome Autosomal dominant optic atrophy and peripheral neuropathy Polymicrogyria with optic nerve hypoplasia UPD(1)pat paternal uniparental disomy of chromosome type 1 Paternal uniparental disomy of chromosome 1 UPD(1)mat maternal uniparental disomy of chromosome type 1 Maternal uniparental disomy of chromosome 1 Del(2)(q31.1) monosomy 2q31.1 2q31.1 microdeletion syndrome Del(6)(p22) monosomy 6p22 6p22 microdeletion syndrome Del(7)(q31) monosomy 7q31 7q31 microdeletion syndrome Del(8)(p11.2) monosomy 8p11.2 8p11.2 deletion syndrome alveolar hydatid disease alveolococcosis echinococcus multilocularis caused disease or disorder echinococcus multilocularis disease or disorder echinococcus multilocularis infectious disease multilocular hydatid small fox tapeworm Alveolar echinococcosis double heterozygous for hb s + hb e hbs-hbe disease hbse disease hemoglobin s-e disease hemoglobin s/e disease sickle cell anemia with hemoglobin e disease Sickle cell-hemoglobin e disease syndrome bcd syndrome blepharo-cheilo-odontic syndrome clefting, ectropion, conical teeth syndrome clefting-ectropion-conical teeth syndrome ectropion inferior-cleft lip and or palate syndrome ectropion inferior-cleft lip and/or palate syndrome elsching syndrome lagophthalmia-cleft lip and palate syndrome Blepharocheilodontic syndrome typus Edinburgensis Edinburgh malformation syndrome ectodermal dysplasia with ectrodactyly and cleft lip or palate ectrodactyly ectodermal dysplasia cleft lip/palate ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome eec - ectodermal dysplasia with ectrodactyly and cleft lip or palate rudiger syndrome 1 rudiger's syndrome walker-clodius syndrome Ectrodactyly-ectodermal dysplasia-clefting syndrome maternally inherited mitochondrial dystonia mitochondrial dna-related dystonia mtdna-related dystonia Maternally-inherited mitochondrial dystonia Pure mitochondrial myopathy Dup7q11.23D distal dup(7)(q11.23) distal trisomy 7q11.23 Distal 7q11.23 microduplication syndrome 16p11.2 microduplication syndrome 16p11.2-p12.2 microduplication syndrome dup(16)(p11.2p12.2) trisomy 16p11.2p12.2 16p11.2p12.2 microduplication syndrome dup(14)(q11.2) trisomy 14q11.2 14q11.2 microduplication syndrome 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) Del(16)(p13.11) monosomy 16p13.11 16p13.11 microdeletion syndrome 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) dup(16)(p13.11) trisomy 16p13.11 16p13.11 microduplication syndrome distal del(17)(p13.3 ) distal del(17)(p13.3) distal monosomy 17p13.3 Distal 17p13.3 microdeletion syndrome paternal 20q13.2-q13.3 microdeletion syndrome paternal del(20)(q13.2q13.3) paternal monosomy 20q13.2-q13.3 paternal monosomy 20q13.2q13.3 Paternal 20q13.2q13.3 microdeletion syndrome Del(20)(q13.33) monosomy 20q13.33 20q13.33 microdeletion syndrome 21q22.11-q22.12 microdeletion syndrome Del(21)(q22.11q22.12) monosomy 21q22.11-q22.12 monosomy 21q22.11q22.12 21q22.11q22.12 microdeletion syndrome ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome eem (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome Eem syndrome distal dup(22)(q11.2) distal trisomy 22q11.2 Distal 22q11.2 microduplication syndrome duplication 1q trisomy 1q syndrome trisomy type 1q Trisomy 1q atypical norrie disease due to del(x)(p11.3) atypical norrie disease due to nullisomy xp11.3 atypical norrie disease due to xp11.3 microdeletion Atypical Norrie disease due to monosomy Xp11.3 maternal uniparental disomy of chromosome type x upd(x)mat upd(x)mat - maternal uniparental disomy of chromosome x Maternal uniparental disomy of chromosome X paternal uniparental disomy of chromosome type x upd(x)pat upd(x)pat - paternal uniparental disomy of chromosome x Paternal uniparental disomy of chromosome X Ring chromosome type Y r(Y) Ring chromosome y eds iii eds-ht edshmb ehlers-danlos syndrome hypermobility type ehlers-danlos syndrome type 3 ehlers-danlos syndrome type 3 (formerly) ehlers-danlos syndrome type iii ehlers-danlos syndrome, benign hypermobile form ehlers-danlos syndrome, hypermobile type ehlers-danlos syndrome, hypermobility type ht-eds orpha:285 Ehlers-Danlos syndrome, type 3 arterial-ecchymotic eds eds iv eds type 4 ehlers-danlos syndrome arterial type e-d ehlers-danlos syndrome ecchymotic type e-d ehlers-danlos syndrome type 4 ehlers-danlos syndrome type iv ehlers-danlos syndrome vascular type ehlers-danlos syndrome, type 4 sack syndrome sack-barabas syndrome Ehlers-Danlos syndrome, vascular type eds vii eds viia ehlers-danlos syndrome type 7 ehlers-danlos syndrome, arthrochalasis type ehlers-danlos syndrome, type vii Ehlers-Danlos syndrome, arthrochalasia type ceds classical eds eds, classic type ehlers-danlos syndrome classic type Ehlers-Danlos syndrome, classic type dermatosparaxis eds (ehlers-danlos syndrome) eds viic ehlers-danlos syndrome type 7c ehlers-danlos syndrome type viic human dermatosparaxis eds viic human dermatosparaxis eds viic (ehlers-danlos syndrome type 7c) Ehlers-danlos syndrome, dermatosparaxis type infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome congenital hyperinsulinism due to hnf4a deficiency hyperinsulinemic hypoglycemia due to hnf4a deficiency hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency Hyperinsulinism due to HNF4A deficiency human ehrlichiosis Ehrlichiosis duplication 8p trisomy 8p syndrome trisomy type 8p Trisomy 8p Elejalde syndrome acrocephalopolydactylous dysplasia Acrocephalopolydactyly Posterior meningocele brain meninx cephalocele (disease) cephalocele (disease) of brain meninx hydrencephalomeningocele Meningoencephalocele Leptomyelolipoma Neurenteric cyst Isolated amyelia Ellis-Yale-Winter syndrome Microcephaly-cardiac defect-lung malsegmentation syndrome Unilateral polymicrogyria cle cle - congenital lobar emphysema congenital emphysema congenital lobar hyperinflation congenital lobar overinflation emphysema, congenital lobar infantile lobar hyperinflation Congenital lobar emphysema bile acid coenzyme a ligase deficiency and defective amidation Bile acid coa ligase deficiency and defective amidation hemihyperplasia with multiple lipomatosis syndrome hhml hhml (hemihyperplasia multiple lipomatosis) syndrome Hemihyperplasia-multiple lipomatosis syndrome dup(10)(q22.3q23.3) trisomy 10q22.3q23.3 10q22.3q23.3 microduplication syndrome hyperinsulinemic hypoglycemia due to ucp2 deficiency hyperinsulinism due to ucp2 (uncoupling protein 2) deficiency hyperinsulinism due to uncoupling protein 2 deficiency Hyperinsulinism due to ucp2 deficiency symptomatic form of coffin-lowry syndrome in female carrier Symptomatic form of coffin-lowry syndrome in female carriers 12p13.33 microdeletion syndrome Del(12)(p13.33) distal deletion 12p distal monosomy type 12p Distal monosomy 12p eccl eccl - encephalocraniocutaneous lipomatosis encephalocraniocutaneous lipomatosis, somatic mosaic haberland syndrome Encephalocraniocutaneous lipomatosis Autosomal semi-dominant severe lipodystrophic laminopathy autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome idmdc recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Familial alzheimer-like prion disease Familial omphalocele syndrome with facial dysmorphism acral SHCB Acral self-healing collodion baby Duplication Xp22 dup(X)(p22) dup(X)(p22.13p22.2) Xp22.13p22.2 duplication syndrome neonatal MFS Neonatal marfan syndrome encephalopathy-intracerebral calcification-retinal degeneration syndrome Bonnemann-Meinecke-Reich syndrome early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a mutation early-onset epileptic encephalopathy and intellectual disability due to grin2a (glutamate receptor, ionotropic, n-methyl-d-aspartate, subunit 2a) mutation Early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation IDH IDH Gene family infective dermatitis associated with human T-lymphotropic virus type 1 infective dermatitis associated with human T-lymphotropic virus type I isocitrate dehydrogenase Gene family Infective dermatitis associated with htlv-1 Del(12)(q15)(q21.1) deletion 12q15q21.1 monosomy 12q15q21.1 12q15q21.1 microdeletion syndrome tetrasomy 11q24.1 Microtriplication 11q24.1 inherited isolated adrenal insufficiency due to partial cytochrome p450 family 11 subfamily a member 1 deficiency Inherited isolated adrenal insufficiency due to partial cyp11a1 deficiency grayson wilbrandt corneal dystrophy grayson wilbrandt dystrophy of cornea gwcd Grayson-Wilbrandt corneal dystrophy pdcd pre-descemet's corneal dystrophy Pre-descemet corneal dystrophy del(1)(p21.3) del(1)p(21.3) monosomy 1p21.3 1p21.3 microdeletion syndrome hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome congenital absence of upper limb congenital complete absence of upper limb forelimb non-syndromic amelia non-syndromic amelia of forelimb transverse deficiency of arm, shoulder level Amelia of upper limb congenital complete absence of lower limb hindlimb non-syndromic amelia non-syndromic amelia of hindlimb transverse deficiency lower limb - hip level Amelia of lower limb congenital absence of humerus congenital hypoplasia of humerus congenital short humerus humeral intercalary meromelia Humeral agenesis/hypoplasia complete phocomelia of lower limb congenital absence of thigh and leg femorotibiofibular intercalary transverse meromelia Congenital absence of thigh and lower leg with foot present congenital absence of forearm and hand radio-ulnar terminal transverse meromelia Congenital absence of both forearm and hand hemimelia - knee level tibiofibular terminal transverse meromelia transverse deficiency lower limb - knee level Congenital absence of both lower leg and foot acheiria agenesis of hand congenital absence of hand Absent hand agenesis of foot aplasia of the foot apodia congenital absence of foot transverse deficiency lower limb - ankle level Absent foot supernumerary phalanges supernumerary phalanx Hyperphalangy corneal dystrophy with gum hypertrophy gingival hypertrophy corneal dystrophy gingival hypertrophy with corneal dystrophy gingival hypertrophy-corneal dystrophy oculodental syndrome rutherfurd syndrome Oculodental syndrome, rutherfurd type central polydactyly of hand insertional polydactyly intercalary polydactyly mesoaxial polydactyly mesoaxial polydactyly of fingers mirror hand Central polydactyly of fingers mitten hand syndactyly mitten type syndactyly, mitten type unilateral syndactyly of digits 2-5 Syndactyly type 6 congenital clinodactyly of finger congenital crooked finger curvature of finger familial isolated clinodactyly of fingers Finger clinodactyly congenital tibio-fibular fusion tibio-fibular fusion Tibio-fibular synostosis congenital dislocation of glenohumeral joint congenital dislocation of shoulder true congenital shoulder dislocation Congenital shoulder dislocation congenital dislocation of elbow congenital radial head dislocation isolated congenital elbow dislocation Congenital elbow dislocation congenital dislocation of knee congenital knee dislocation (disease) dislocated knee since birth Congenital knee dislocation Lower limb hypertrophy short stature-locking fingers syndrome Eng-Strom syndrome dup(11)p(15.4) trisomy 11p15.4 11p15.4 microduplication syndrome glycogen storage disease type 13 glycogen storage disease type xiii glycogenosis due to muscle beta-enolase deficiency glycogenosis type 13 gsd due to muscle beta-enolase deficiency gsd xiii gsdxiii muscle enolase deficiency muscular enolase deficiency Glycogen storage disease due to muscle beta-enolase deficiency fhhnc fhhnc - familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis michellis castrillo syndrome michellis-castrillo syndrome primary hypomagnesemia with hypercalciuria and nephrocalcinosis Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis spherulocytosis subcutaneous spherulocystic disease Myospherulosis hemiparkinsonism hemiatrophy syndrome hp-ha syndrome Hemiparkinsonism-hemiatrophy syndrome PPKP3 without elastoidosis PPPK3 without elastoidosis punctate palmoplantar hyperkeratosis type 3 without elastoidosis punctate palmoplantar keratoderma type 3 without elastoidosis Focal acral hyperkeratosis Russell-Weaver-Bull syndrome blastogenesis defect Axial mesodermal dysplasia spectrum antenatal enterovirus infection congenital enterovirus infectious disease congenital infection caused by enterovirus mother-to-child transmission of enterovirus infection Congenital enterovirus infection mkd Deficiency of mevalonate kinase 20p subtelomeric deletion syndrome Del(20)(p13) monosomy 20p13 20p13 microdeletion syndrome dup(2)(q23.1) trisomy 2q23.1 2q23.1 microduplication syndrome contractures, webbed neck, micrognathia, hypoplastic nipples syndrome contractures-webbed neck-micrognathia-hypoplastic nipples syndrome dinno syndrome joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome Contractures - webbed neck - micrognathia - hypoplastic nipples syndrome high bone mass OI High bone mass osteogenesis imperfecta dup(7)(p22.1) trisomy 7p22.1 7p22.1 microduplication syndrome marfanoid habitus, inguinal hernia, advanced bone age syndrome Marfanoid habitus-inguinal hernia-advanced bone age syndrome dup(X)(q12-q13.3) Xq12-q13.3 duplication syndrome ebs with muscular dystrophy ebs-md ebs5b epidermolysis bullosa simplex and limb-girdle muscular dystrophy epidermolysis bullosa simplex with muscular dystrophy limb girdle muscular dystrophy with epidermolysis bullosa simplex limb-girdle muscular dystrophy with epidermolysis bullosa simplex Epidermolysis bullosa simplex 5b, with muscular dystrophy spigelian hernia with cryptorchidism syndrome Spigelian hernia-cryptorchidism syndrome autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome dpg-plus syndrome duplication of pituitary gland duplication of pituitary gland plus syndrome duplication of the pituitary gland-plus syndrome hypophyseal duplication Duplication of the pituitary gland autosomal dominant beta2-microglobulinic amyloidosis Variant abeta2m amyloidosis Segmental progressive overgrowth syndrome with fibroadipose hyperplasia albopapuloid dystrophic epidermolysis bullosa of pasini autosomal dominant dystrophic epidermolysis bullosa, pasini and cockayne-touraine types ddeb (dominant dystrophic epidermolysis bullosa) intermediate ddeb, generalised ddeb, generalized ddeb, pasini and cockayne-touraine types ddeb-gen dominant dystrophic epidermolysis bullosa of pasini dominant dystrophic epidermolysis bullosa, albopapular type epidermolysis bullosa dystrophica, ad generalized ddeb generalized ddeb (generalized dystrophic epidermolysis bullosa) Generalized dominant dystrophic epidermolysis bullosa diencephalic mesencephalic junction dysplasia diencephalic-mesencephalic junction dysplasia syndrome Diencephalic-mesencephalic junction dysplasia chondroectodermal dysplasia with night blindness syndrome Chondroectodermal dysplasia with night blindness autosomal dominant generalized ebs, severe form autosomal dominant generalized epidermolysis bullosa simplex, severe form dowling-meara epidermolysis bullosa ebs, generalised severe ebs, generalized severe ebs-gen sev ebs1a ebsdm epidermolysis bullosa herpetiformis dowling-meara type epidermolysis bullosa simplex dowling-meara type epidermolysis bullosa simplex herpetiformis epidermolysis bullosa simplex, herpetiformis generalised severe epidermolysis bullosa simplex generalized severe epidermolysis bullosa simplex simplex epidermolysis bullosa herpetiformis Epidermolysis bullosa simplex 1a, generalized severe hemorrhagic fever caused by lujo virus zambian hemorrhagic fever Lujo hemorrhagic fever ahf - argentinian hemorrhagic fever argentinian hemorrhagic fever endoepidemic hemorrhagic viremia gripon hemorrhagic fever due to junin virus infection caused by junin virus junin hemorrhagic fever junin virus infection mal de rastrojos north-east buenos aires hemorrhagic viremia o'higgins' disease viral hemorrhagic fever, argentine Argentine hemorrhagic fever bhf - bolivian hemorrhagic fever black typhus hemorrhagic fever due to machupo virus machupo hemorrhagic fever Bolivian hemorrhagic fever Guanarito hemorrhagic fever Venezuelan hemorrhagic fever Sabia hemorrhagic fever Brazilian hemorrhagic fever hemorrhagic fever caused by chapare virus Chapare hemorrhagic fever rvf viral hemorrhagic fever, rift valley Rift valley fever ebj-i inverse jeb jeb inversa jeb-i Junctional epidermolysis bullosa inversa maternally-inherited spg mitochondrially encoded atp synthase membrane subunit 6-related mitochondrial spastic paraplegia mt-atp6-related mitochondrial spastic paraplegia Maternally-inherited spastic paraplegia multiple paraganglioma associated with erythrocytosis multiple paraganglioma associated with polycythemia multiple paragangliomas associated with erythrocytosis paraganglioma, somatostatinoma, polycythemia syndrome paraganglioma-somatostatinoma-polycythemia syndrome Multiple paragangliomas associated with polycythemia Severe lateral tibial bowing with short stature Del(9)(p13) monosomy 9p13 9p13 microdeletion syndrome congenital absence of optic chiasma Congenital achiasma mixed sclerosing bone dystrophy with extra-skeletal manifestation Mixed sclerosing bone dystrophy with extra-skeletal manifestations HIBM4 Hereditary inclusion body myopathy type 4 muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial deoxyribonucleic acid mutation hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial dna mutation hypertrophic cardiomyopathy with kidney anomalies due to mtdna mutation hypertrophic cardiomyopathy with renal anomalies due to mitochondrial dna mutation Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome hyperinsulinemic hypoglycemia due to hnf1a deficiency hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency Hyperinsulinism due to hnf1a deficiency Benign samaritan congenital myopathy autosomal dominant intermediate cmt disease with neuropathic pain Autosomal dominant intermediate charcot-marie-tooth disease with neuropathic pain autosomal dominant charcot-marie-tooth disease type 2 due to kinesin family member 5a mutation cmt2 due to kif5a mutation Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation hendra henipavirus caused disease or disorder hendra henipavirus disease or disorder hendra henipavirus infectious disease infection caused by hendra virus Hendra virus infection ints (invasive non-typhoidal salmonella) disease ints disease invasive non-typhoidal salmonella disease Invasive non-typhoidal salmonellosis debs-wc dominant epidermolysis bullosa simplex, weber-cockayne type ebs-loc epidermolysis bullosa simplex of palms and soles epidermolysis bullosa simplex of the hands and/or feet epidermolysis bullosa simplex, weber-cockayne type localised epidermolysis bullosa simplex localized ebs localized epidermolysis bullosa simplex Epidermolysis bullosa simplex 1c, localized 46,XY ovotesticular DSD 46,XY ovotesticular disorder of sex development autosomal dominant generalized ebs, intermediate form autosomal dominant generalized epidermolysis bullosa simplex, intermediate form ebs, generalised intermediate ebs, generalized intermediate epidermolysis bullosa simplex 1b, generalized intermediate epidermolysis bullosa simplex, kobner type epidermolysis bullosa simplex, köbner type epidermolysis bullosa simplex, other generalized generalised ebs, non-dowling-meara type generalised epidermolysis bullosa simplex, non-dowling-meara type generalized ebs, non-dowling-meara type generalized epidermolysis bullosa simplex, non-dowling-meara type Epidermolysis bullosa simplex, Koebner type ebs-o ebs-og ebs5a ebsog epidermolysis bullosa simplex 5a, ogna type epidermolysis bullosa simplex of ogna pidermolysis bullosa simplex 5a, ogna type plec-related intermediate ebs without extracutaneous involvement plec-related intermediate epidermolysis bullosa simplex without extracutaneous involvement Epidermolysis bullosa simplex, Ogna type familial thrombocytosis with transverse limb defect thrombocythemia with distal limb defect Hereditary thrombocytosis with transverse limb defect Autosomal recessive frontotemporal pachygyria spastic paraplegia with paget disease of bone syndrome Spastic paraplegia-paget disease of bone syndrome adult-onset distal myopathy due to valosin containing protein mutation adult-onset distal myopathy due to vcp (valosin containing protein) mutation Adult-onset distal myopathy due to vcp mutation genome-wide paternal uniparental disomy mosaicism mosaic genome-wide paternal upd Mosaic genome-wide paternal uniparental disomy transient neonatal glutaric acidemia type 2 transient neonatal glutaric aciduria type 2 transient neonatal mad (multiple acyl-coenzyme a dehydrogenase) deficiency transient neonatal mad deficiency transient neonatal madd transient neonatal multiple acyl-coenzyme a dehydrogenase deficiency Transient neonatal multiple acyl-coa dehydrogenase deficiency intermittent effusion of joint Intermittent hydrarthrosis caudal regression rudd klimek syndrome rudd-klimek syndrome Familial caudal dysgenesis deb deb - dystrophic epidermolysis bullosa dermolytic epidermolysis bullosa dystrophic epidermolysis bullosa dystrophic epidermolysis bullosa, hallopeau-siemens type (formerly) Epidermolysis bullosa dystrophica hypotrichosis and deafness syndrome hypotrichosis-hearing loss syndrome Hypotrichosis-deafness syndrome HbLepore-beta-thalassemia syndrome Lepore-beta-thalassemia syndrome Hemoglobin lepore-beta-thalassemia syndrome EBJ JEB congenital junctional epidermolysis bullosa epidermolysis bullosa atrophicans Junctional epidermolysis bullosa autosomal recessive intellectual disability due to trappc9 (trafficking protein particle complex 9) deficiency autosomal recessive intellectual disability due to trappc9 deficiency intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome focal epilepsy, intellectual disability, dysarthria, ataxia syndrome focal epilepsy-intellectual disability-dysarthria-ataxia syndrome Focal epilepsy-intellectual disability-cerebro-cerebellar malformation Del(16)(q24.1) monosomy 16q24.1 16q24.1 microdeletion syndrome phalangeal osteolysis Phalangeal microgeodic syndrome autosomal recessive cerebellar ataxia due to gba2 (glucosylceramidase beta 2) deficiency autosomal recessive cerebellar ataxia due to gba2 deficiency Autosomal recessive cerebellar ataxia with late-onset spasticity attenuated Chediak-Higashi syndrome atypical Chediak-Higashi syndrome atypical Chédiak-Higashi syndrome Attenuated chédiak-higashi syndrome epidermolysis bullosa letalis epidermolysis bullosa, junctional 1b, severe herlitz syndrome herlitz type epidermolysis bullosa junctionalis herlitz's disease herlitz-pearson-type epidermolysis bullosa herlitz-type junctional epidermolysis bullosa jeb, generalised severe jeb, generalized severe jeb-h jeb-herlitz type junctional epidermolysis bullosa generalisata gravis junctional epidermolysis bullosa herlitz type junctional epidermolysis bullosa, herlitz-pearson type junctional epidermolysis bullosa, lethal type, herlitz severe generalized jeb severe generalized junctional epidermolysis bullosa Junctional epidermolysis bullosa gravis of Herlitz congenital arteriovenous anastomoses of the retina congenital arteriovenous communication of the retina congenital arteriovenous malformation of retina congenital racemose hemangioma of retina congenital retinal arteriovenous anastomoses retinal arteriovenous anomaly retinal racemose haemangioma Congenital retinal arteriovenous communication 3q26-q27microdeletion syndrome monosomy 3q26-q27 3q26q27 microdeletion syndrome Primary non-essential cutis verticis gyrata deb-pt localized deb, pretibial form localized dystrophic epidermolysis bullosa, pretibial form pretibial blistering pretibial deb Pretibial dystrophic epidermolysis bullosa lamin a/c related cardiocutaneous progeria syndrome lcps LMNA-related cardiocutaneous progeria syndrome dup(20)(q11.2) 20q11.2 microduplication syndrome Del(2)(p13.2) 2p13.2 microdeletion syndrome Autosomal recessive cerebral atrophy abca4-related stargardt disease 1 cngb3-related stargardt disease 1 early-onset severe retinal dystrophy eosrd juvenile onset macular degeneration secord stargardt disease type 1 stargardt macular dystrophy Severe early-childhood-onset retinal dystrophy Bipartite talus intellectual disability, hyperkinetic movement, truncal ataxia syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Del(2)(p21) without cystinuria 2p21 microdeletion syndrome without cystinuria 12) der(8)t(8 intellectual disability, seizures, macrocephaly, obesity syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome intellectual disability, facial dysmorphism, hand anomalies syndrome Intellectual disability-facial dysmorphism-hand anomalies syndrome spondyloepimetaphyseal dysplasia isidor type Spondyloepimetaphyseal dysplasia, Isidor type Spondylometaphyseal dysplasia, Czarny-Ratajczak type ataxia telangiectasia variant ataxia-telangiectasia variant v-at v-at - ataxia telangiectasia variant Ataxia - telangiectasia variant Medich macrothrombocytopenia Medich giant platelet syndrome xylosyltransferase 1 congenital disorder of glycosylation xylt1-cdg xylt1-cdg - xylosyltransferase 1 congenital disorder of glycosylation xylt18-cdg XYLT1-congenital disorder of glycosylation camptodactyly-joint contractures-facial skeletal defects syndrome rozin camptodactyly syndrome Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye CMDH Congenital muscular dystrophy with hyperlaxity Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression jae jae - juvenile absence epilepsy Juvenile absence epilepsy Fatal post-viral neurodegenerative disorder growth retardation, mild developmental delay, chronic hepatitis syndrome Growth retardation-mild developmental delay-chronic hepatitis syndrome dermatophytic granuloma dermatophytic mycetoma dermatophytosis profunda disseminated granulomatous dermatophytosis granuloma trichophyticum Deep dermatophytosis chronic diarrhea with hereditary sensory and autonomic neuropathy chronic diarrhea with hsan chronic diarrhoea with hereditary sensory and autonomic neuropathy chronic diarrhoea with hsan prion protein systemic amyloidosis prp (prion protein) systemic amyloidosis PrP systemic amyloidosis 3q27.3 microdeletion syndrome Periodic paralysis with later-onset distal motor neuropathy FCCS cerebro-cutaneous syndrome with iron overload Ferro-cerebro-cutaneous syndrome kelch like family member 9 related early-onset distal myopathy KLHL9-related early-onset distal myopathy Nebulin-related early-onset distal myopathy CEC celiac disease, epilepsy, and cerebral calcification syndrome coeliac disease, epilepsy, and cerebral calcification syndrome Celiac disease-epilepsy-cerebral calcification syndrome cln14 disease epilepsy, progressive myoclonic 3, with or without intracellular inclusions epilepsy, progressive myoclonic, 3, without intracellular inclusions epm3 kctd7 progressive myoclonic epilepsy pme (progressive myoclonic epilepsy) type 3 pme type 3 progressive myoclonic epilepsy caused by mutation in kctd7 progressive myoclonic epilepsy due to kctd7 deficiency progressive myoclonus epilepsy type 3 Progressive myoclonic epilepsy type 3 Epilepsy-telangiectasia syndrome Doose syndrome EMAS epilepsy with myoclonic atonic seizures epilepsy with myoclonic-astatic seizures epilepsy with myoclonic-atonic seizures myoclonic atonic epilepsy myoclonic-astatic epilepsy in early childhood Myoclonic-astatic epilepsy SPG59 Autosomal recessive spastic paraplegia type 59 SPG60 Autosomal recessive spastic paraplegia type 60 SPG66 Autosomal recessive spastic paraplegia type 66 SPG67 Autosomal recessive spastic paraplegia type 67 SPG69 Autosomal recessive spastic paraplegia type 69 benign occipital epilepsy benign occipital lobe epilepsy Self-limited childhood occipital epilepsy SPG70 Autosomal recessive spastic paraplegia type 70 SPG71 Autosomal recessive spastic paraplegia type 71 c9orf72-related huntington disease phenocopy c9orf72-related huntington disease-like syndrome huntington disease phenocopy due to c9orf72 expansions huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Huntington disease-like syndrome due to C9ORF72 expansions Del(9)(q31.1q31.3) monosomy 9q31.1q31.3 9q31.1q31.3 microdeletion syndrome Del(14)(q24.1q24.3) monosomy 14q24.1q24.3 14q24.1q24.3 microdeletion syndrome partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome delta hepatitis hdv hepatitis d hepatitis d virus hepatitis delta hepatitis delta virus caused hepatitis hepatitis delta virus hepatitis hepatitis type d viral hepatitis d viral hepatitis type d Hepatitis D virus infection fbln1-related developmental delay, central nervous system anomaly, syndactyly syndrome fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome diaphragmatic spinal muscular atrophy type 2 severe infantile axonal neuropathy with respiratory failure type 2 smard2 smard2 - spinal muscular atrophy with respiratory distress type 2 x-linked spinal muscular atrophy with respiratory distress Spinal muscular atrophy with respiratory distress type 2 familial focal epilepsy hereditary partial epilepsy Familial partial epilepsy Del(13)(q12.3) monosomy 13q12.3 13q12.3 microdeletion syndrome protein kinase camp-dependent type i regulatory subunit beta-related neurodegenerative dementia with intermediate filaments PRKAR1B-related neurodegenerative dementia with intermediate filaments dystonia aphonia syndrome Dystonia-aphonia syndrome autosomal recessive severe congenital neutropenia due to c-x-c motif chemokine receptor 2 deficiency autosomal recessive severe congenital neutropenia due to cxcr2 (c-x-c motif chemokine receptor 2) deficiency Autosomal recessive severe congenital neutropenia due to cxcr2 deficiency short stature, kyphosis, hypoplasia of basal ilia-cone epiphyses, facial dysmorphism syndrome short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome Cono-spondylar dysplasia microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome x-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency x-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome microcephalus, complex motor and sensory axonal neuropathy syndrome microcephaly, complex motor and sensory axonal neuropathy syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome epiphyseal dysplasia, hearing loss, dysmorphism syndrome epiphyseal dysplasia-deafness-dysmorphism syndrome finucane-kurtz-scott syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Congenital myopathy with myasthenic-like onset hyperbilirubinemia type i hyperbilirubinemia, rotor type, digenic Rotor syndrome comp multiple epiphyseal dysplasia (disease) comp-related multiple epiphyseal dysplasia edm1 epiphyseal dysplasia, multiple, type 1 med1 multiple epiphyseal dysplasia (disease) caused by mutation in comp polyepiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 1 3p25.3 deletion syndrome del(3)p(25.3) intellectual disability-epilepsy-stereotypic hand movement syndrome monosomy 3p25.3 3p25.3 microdeletion syndrome autosomal dominant charcot-marie-tooth disease type 2 due to trafficking from endoplasmic reticulum to golgi regulator mutation cmt2 due to tfg mutation Autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation 5q23 microdeletion syndrome joint contractures, developmental delay, pierre robin syndrome Contractures-developmental delay-pierre robin syndrome severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome non-progressive predominantly posterior cavitating leukodystrophy with peripheral neuropathy Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy pxe-like (pseudoxanthoma elasticum-like) syndrome with retinitis pigmentosa pxe-like syndrome with retinitis pigmentosa Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa disease caused by orthopoxvirus orthopoxvirus infection Human infection by orthopoxvirus Acute posterior multifocal placoid pigment epitheliopathy congenital CNIII lesion congenital third cranial nerve palsy Congenital oculomotor nerve palsy benign congenital sixth cranial nerve palsy congenital cnvi palsy congenital sixth nerve palsy Congenital abducens nerve palsy autosomal dominant myopia, midfacial retrusion, sensorineural deafness, rhizomelic dysplasia syndrome autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome NSTI Necrotizing soft tissue infection fcctx fcctx - familial colorectal cancer type x Familial colorectal cancer type x Paratyphoid fever 11q22.2-q22.3 deletion syndrome Del(11)(q22.2q22.3) monosomy 11q22.2-q22.3 monosomy 11q22.2q22.3 11q22.2q22.3 microdeletion syndrome Del(20)(q11.2) monosomy 20q11 20q11.2 microdeletion syndrome map3k14 non-severe combined immunodeficiency nf-kappa-b-inducing kinase deficiency non-severe combined immunodeficiency caused by mutation in map3k14 primary immunodeficiency with multifaceted aberrant lymphoid immunity NIK deficiency ad-spg9b autosomal dominant spastic paraplegia type 9b Autosomal dominant complex spastic paraplegia type 9B dup(19)(p13.13) 19p13.3 microduplication syndrome Erosive pustular dermatosis of the scalp Scedosporiosis congenital absence of pain with severe intellectual disability congenital analgesia with severe intellectual disability congenital insensitivity to pain with preserved temperature sensation congenital insensitivity to pain with severe non-progressive cognitive delay Congenital insensitivity to pain with severe intellectual disability H-type tracheoesophageal fistula tracheo-esophageal fistula tracheoesophageal fistula Isolated tracheo-esophageal fistula Del(1)(p35.2) deletion 1p35.2 monosomy 1p35.2 1p35.2 microdeletion syndrome hereditary neuroendocrine tumor of small bowel hereditary neuroendocrine tumor of the small intestine hereditary neuroendocrine tumour of small bowel hereditary neuroendocrine tumour of the small intestine hereditary small intestine neuroendocrine neoplasm Hereditary neuroendocrine tumor of small intestine anoac anoac (axonal neuropathy, optic atrophy, cognitive deficit) syndrome axonal neuropathy, optic atrophy, cognitive deficit syndrome axonal neuropathy-optic atrophy-cognitive deficit syndrome infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome ccsk ccsk - clear cell sarcoma of kidney clear cell sarcoma - kidney paediatric kidney clear cell sarcoma paediatric renal clear cell sarcoma Clear cell sarcoma of kidney intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome c5 complement deficiency complement 5 dysfunction complement deficiency caused by mutation in c5 Complement component 5 deficiency 7q36.3 microduplication syndrome agenesis of corpus callosum, macrocephaly, hypertelorism syndrome dup(7)(q36.3) Corpus callosum agenesis-macrocephaly-hypertelorism syndrome Congenital lethal erythroderma childhood-onset progressive contractures, limb girdle weakness, muscle dystrophy syndrome Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome brain stem asymmetry, superior cerebellar and basal ganglia dysplasia syndrome brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome Tubulinopathy-associated dysgyria CMUSE Cryptogenic multifocal ulcerous stenosing enteritis ceas chronic enteropathy associated with solute carrier organic anion transporter family member 2a1 gene Chronic enteropathy associated with slco2a1 gene autosomal dominant distal axonal motor neuropathy, myofibrillar myopathy syndrome Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome escher-hirt syndrome thickened earlobes-conductive hearing loss syndrome Thickened earlobes-conductive deafness syndrome autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome Congenital generalized hypercontractile muscle stiffness syndrome primary hyperplasia of mandibular condyle type 1 condylar hyperplasia Primary condylar hyperplasia asthesioneuroblastoma Esthesioneuroblastoma Caroli syndrome lethal hydranencephaly, diaphragmatic hernia syndrome Lethal hydranencephaly-diaphragmatic hernia syndrome Ethylmalonic encephalopathy Isolated neonatal sclerosing cholangitis x-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome tetrasomy 16p12.1-p12.3 tetrasomy 16p12.1p12.3 trip(16)(p12.1p12.3) 16p12.1p12.3 triplication syndrome elastin microfibril interfacer 1 related connective tissue disease EMILIN-1-related connective tissue disease autosomal dominant charcot-marie-tooth disease type 2 due to diacylglycerol o-acyltransferase 2 mutation cmt2 due to dgat2 mutation Autosomal dominant charcot-marie-tooth disease type 2 due to dgat2 mutation bjornstad's syndrome deafness-pili torti-hypogonadism syndrome hearing loss-pili torti-hypogonadism syndrome pili torti-deafness syndrome Bjornstad syndrome antepartum peripartum cardiomyopathy postpartum cardiomyopathy postpartum peripartum cardiomyopathy Peripartum cardiomyopathy six homeobox 2-related frontonasal dysplasia six2-related fnd Six2-related frontonasal dysplasia 9q33.3-q34.11 microdeletion syndrome Del(9)(q33.3q34.11) deletion 9q33.3q34.11 monosomy 9q33.3-q34.11 monosomy 9q33.3q34.11 9q33.3q34.11 microdeletion syndrome congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome kyphoscoliosis, lateral tongue atrophy, hereditary spastic paraplegia syndrome kyphoscoliosis-lateral tongue atrophy-hsp syndrome Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome Epidermal nevus with epidermolytic hyperkeratosis epidermolytic epidermal nevus epidermolytic verrucous epidermal nevus Epidermolytic nevus Exostoses-anetodermia-brachydactyly type e syndrome hyalinosis, inherited systemic Hyaline fibromatosis syndrome low density lipoprotein receptor-related protein 5 related primary osteoporosis LRP5-related primary osteoporosis Overgrowth syndrome with 2q37 translocation mybpc1-related autosomal recessive non-lethal amc syndrome myosin binding protein c1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MTCT of syphilis mother-to-child transmission of syphilis Congenital syphilis exostoses, multiple caused by mutation in ext1 ext1 ext1 exostoses, multiple hereditary multiple osteochondromatosis, type i Exostoses, multiple, type 1 witkos witteveen-kolk syndrome SIN3A-related intellectual disability syndrome Metopic ridging-ptosis-facial dysmorphism syndrome proximal del(4)(q25) proximal monosomy 4q25 4q25 proximal deletion syndrome exostoses (multiple) 2 gene exostoses, multiple caused by mutation in ext2 ext2 exostoses, multiple ext2 gene hereditary multiple osteochondromatosis, type ii Exostoses, multiple, type 2 3-methylglutaconic aciduria type VIII, MGCA8 3-methylglutaconic aciduria, type VIII MGA8 MGCA8 3-methylglutaconic aciduria type 8 EXT3 Exostoses, multiple, type iii cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome hyaluronidase 2 deficiency Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ofd18 ofd18 - oral-facial-digital syndrome type 18 ofds 18 ofds xviii oral-facial-digital syndrome type 18 oral-facial-digital syndrome with short stature and brachymesophalangia oral-facial-digital syndrome with short stature and brachymesophalangy oral-facial-digital syndrome, type xviii orofaciodigital syndrome type 18 orofaciodigital syndrome xviii Orofaciodigital syndrome 18 eec oeis syndrome omphalocele-exstrophy-imperforate anus-spinal defects Exstrophy-epispadias complex extl3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome extl3-related neuro-immuno-skeletal dysplasia syndrome neuro-immuno-skeletal dysplasia syndrome due to extl3 (exostosin like glycosyltransferase 3) deficiency neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency skeletal dysplasia, t-cell immunodeficiency, developmental delay syndrome Skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome congenital progressive bone marrow failure, b-cell immunodeficiency, skeletal dysplasia syndrome mysm1 (myb like, swirm and mpn domains 1) deficiency mysm1 deficiency Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome AREI Autosomal recessive epidermolytic ichthyosis congenital cerebellar ataxia due to rna, u12 small nuclear mutation Congenital cerebellar ataxia due to rnu12 mutation congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome serpentine-like syndrome Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome cardiomyopathy, dilated ccm - congestive cardiomyopathy cocm - congestive cardiomyopathy congestive dilated cardiomyopathy dcm dcm - dilated cardiomyopathy stretched and thinned heart muscle Dilated cardiomyopathy Char-Douglas-Dungan syndrome Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome autosomal recessive axonal cmt due to copper metabolism defect Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome laminin subunit alpha 5-related multisystemic syndrome LAMA5-related multisystemic syndrome Eyebrow duplication-syndactyly syndrome encephalopathy due to defective mitochondrial and peroxisomal fission Encephalopathy due to mitochondrial and peroxisomal fission defect diaphragmatic hernia, short bowel, asplenia syndrome Diaphragmatic hernia-short bowel-asplenia syndrome angioedema, hereditary, 1 and 2 angioedema, hereditary, type 1/2 hae (hereditary angioedema) with c1inh (c1 esterase inhibitor) deficiency hae with c1 inhibitor deficiency hae with c1inh deficiency hereditary angioedema with c1 esterase inhibitor deficiency hereditary angioedema with c1inh (c1 esterase inhibitor) deficiency hereditary angioneurotic edema with c1 inhibitor deficiency hereditary angioneurotic edema with c1inh deficiency Hereditary angioedema with c1inh deficiency abe acute kernicterus acute kernicterus of newborn Acute bilirubin encephalopathy bilirubin-induced neurological dysfunction bind bind - bilirubin-induced neurological dysfunction cbe kernicterus spectrum disorder ksd Chronic bilirubin encephalopathy Del(17)(q24) 17q24.2 microdeletion syndrome immune dysregulation, inflammatory bowel disease, arthritis, recurrent infection, lymphopenia syndrome Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome inflammatory bowel disease, recurrent sinopulmonary infection syndrome nfat5 (nuclear factor of activated t cells 5) haploinsufficiency nfat5 haploinsufficiency Inflammatory bowel disease-recurrent sinopulmonary infections syndrome Dermoid or epidermoid cyst of the CNS Dermoid or epidermoid cyst of the central nervous system faces (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome faces syndrome facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome friedman goodman syndrome friedman-goodman syndrome Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome lamb shaffer syndrome lamb-shaffer syndrome lamshf sox5 haploinsufficiency syndrome Lamb-shaffer syndrome 9q21.13 microdeletion syndrome speds spondylodysplastic eds Spondylodysplastic ehlers-danlos syndrome eds 6 eds, kyphoscoliotic type eds, oculoscoliotic type eds6 ehlers-danlos syndrome kyphoscoliotic type ehlers-danlos syndrome, hydroxylysine-deficient ehlers-danlos syndrome, kyphoscoliotic type ehlers-danlos syndrome, lysyl hydroxylase deficient ehlers-danlos syndrome, oculoscoliotic type ehlers-danlos syndrome, type 6 hydroxylysine-deficient collagen disease keds-plod1 kyphoscoliotic eds due to lysyl hydroxylase 1 deficiency kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency lysyl hydroxylase-deficient eds ocular scoliotic eds (ehlers-danlos syndrome) ocular-scoliotic eds plod1-related kyphoscoliotic ehlers-danlos syndrome protocollagen lysyl hydroxylase deficiency Ehlers-Danlos syndrome, kyphoscoliotic type 1 Congenital axonal neuropathy with encephalopathy facial dysmorphism macrocephaly myopia dandy walker type Facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome SYNGAP1-related developmental and epileptic encephalopathy early-onset calcifying leukoencephalopathy, skeletal dysplasia Early-onset calcifying leukoencephalopathy-skeletal dysplasia spastic ataxia, dysarthria due to glutaminase deficiency Spastic ataxia-dysarthria due to glutaminase deficiency syndromic congenital tufting enteropathy Syndromic congenital sodium diarrhea cain cain (cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction) syndrome ccaat enhancer binding protein epsilon-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome cebpe-associated autoinflammation, immunodeficiency, neutrophil dysfunction syndrome CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome carst carst - congenital autosomal recessive small-platelet thrombocytopenia Congenital autosomal recessive small-platelet thrombocytopenia resistance to thyroid hormone alpha resistance to thyroid hormone due to a mutation in tra resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha resistance to thyroid hormone due to mutation in tra rtha Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha Faciothoracogenital syndrome Lethal faciocardiomelic dysplasia gap junction protein gamma 2-related late-onset primary lymphedema GJC2-related late-onset primary lymphedema acoustic neurilemoma acoustic neurinoma an - acoustic neuroma neurinoma of the acoustic nerve vestibular neurinoma vestibular neurolemmoma vestibular schwann cell tumor vestibular schwann cell tumour vestibular schwannoma (disease) Acoustic neuroma Eastman-Bixler syndrome Faciocardiorenal syndrome disseminated warts, impaired cell-mediated immunity, primary lymphedema, anogenital dysplasia syndrome disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome wild (warts, immunodeficiency, lymphedema, anogenital dysplasia) syndrome wild syndrome Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome generalised lymphatic dysplasia of fotiou generalized lymphatic dysplasia of fotiou lmph3 lmphm6 lymphedema, hereditary, iii lymphedema, hereditary, type iii piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis piezo1-related generalised lymphatic dysplasia with systemic involvement piezo1-related generalized lymphatic dysplasia with non-immune hydrops fetalis piezo1-related generalized lymphatic dysplasia with systemic involvement piezo1-related lrhf/gld piezo1-related lymphatic-related hydrops fetalis Lymphatic malformation 6 ephb4-related generalised lymphatic dysplasia with atrial septal defect ephb4-related generalised lymphatic dysplasia with non-immune hydrops fetalis ephb4-related generalized lymphatic dysplasia with atrial septal defect ephb4-related generalized lymphatic dysplasia with non-immune hydrops fetalis ephb4-related lrhf/gld ephrin receptor b4-related lymphatic-related hydrops fetalis EPHB4-related lymphatic-related hydrops fetalis isca1 (iron-sulfur cluster assembly 1) deficiency isca1 deficiency mmds5 - multiple mitochondrial dysfunctions syndrome type 5 multiple mitochondrial dysfunctions syndrome type 5 Multiple mitochondrial dysfunctions syndrome 5 cadherin egf lag seven-pass g-type receptor 1-related late-onset primary lymphedema CELSR1-related late-onset primary lymphedema VEGFC-related congenital primary lymphedema Congenital primary lymphedema of gordon 2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia oas1 deficiency oas1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia oas1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia dna replication fork stabilization factor donson-related microcephaly, short stature, limb abnormalities spectrum donson-related microcephaly, short stature, limb abnormalities spectrum DONSON-related microcephaly-short stature-limb abnormalities spectrum carasal carasal - cathepsin a-related arteriopathy, strokes, leukoencephalopathy cathepsin a-related arteriopathy, strokes, leukoencephalopathy Cathepsin a-related arteriopathy-strokes-leukoencephalopathy SAS SATB2-associated syndrome SATB2 associated disorder rhoa (ras homolog family member a) related mosaic ectodermal dysplasia rhoa-related mosaic ectodermal dysplasia Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies dystonia 28 dystonia 28, childhood-onset dystonic disorder caused by mutation in kmt2b dyt28 dyt28 - dystonia 28 kmt2b dystonic disorder kmt2b-related dystonia lysine methyltransferase 2b-related dystonia Dystonia 28, childhood-onset chung jansen syndrome chung-jansen syndrome developmental delay, intellectual disability, obesity, and dysmorphic features developmental delay, intellectual disability, obesity, and dysmorphism phip-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome ac globulin deficiency deficiency, labile hereditary factor v deficiency disease hereditary hypoproaccelerinaemia hereditary hypoproaccelerinemia owren's disease parahemophilia proaccelerin deficiency Congenital factor v deficiency traf7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome congenital proconvertin deficiency hereditary factor vii deficiency disease hereditary factor vii deficiency syndrome hereditary hypoproconvertinemia Congenital factor vii deficiency localised DEB localized DEB Localized dystrophic epidermolysis bullosa Radio-renal syndrome neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance nrxn1(neurexin 1) related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance nrxn1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance fallot's tetralogy subpulmonic stenosis, ventricular septal defect, overriding aorta, and right ventricular hypertrophy tetrology of fallot tof - tetralogy of fallot ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle Tetralogy of fallot dias-logan syndrome Hereditary persistence of fetal hemoglobin-intellectual disability syndrome erdheim disease familial aortic dissection familial non-syndromic thoracic aortic aneurysm and aortic dissection familial taad familial taad (thoracic aortic aneurysm aortic dissection) ftaad taad thoracic aortic aneurysm and aortic dissection thoracic aortic aneurysms and dissections Familial thoracic aortic aneurysm and aortic dissection congenital longitudinal deficiency of the radius longitudinal deficiency of radius longitudinal reduction defect of radius radial clubhand radial longitidinal meromelia radial ray agenesis Radial hemimelia Band heterotopia of brain congenital combined pituitary hormone deficiency congenital hypopituitarism Non-acquired combined pituitary hormone deficiency Familial nasal acilia polydactyly of index finger polydactyly, preaxial type 3 ppd3 ppd3- preaxial polydactyly type 3 preaxial polydactyly type 3 Polydactyly of an index finger adeaf adlte adpeaf familial epilepsy with auditory features feaf - familial epilepsy with auditory features partial epilepsy with auditory aura partial epilepsy with auditory features Autosomal dominant epilepsy with auditory features familial porencephalic cyst hereditary porencephaly Familial porencephaly auditory neuropathy, autosomal recessive, 1, temperature-sensitive otof-related hearing loss Autosomal recessive nonsyndromic hearing loss 9 pineal hyperplasia and diabetes mellitus syndrome pineal hyperplasia, insulin-resistant diabetes mellitus and somatic abnormalities Rabson-mendenhall syndrome hereditary ventricular tachycardia ventricular tachycardia, familial ventricular tachycardia, idiopathic Familial ventricular tachycardia bickel-fanconi glycogenosis fanconi bickel syndrome fanconi syndrome with intestinal malabsorption and galactose intolerance fanconi-bickel disease fbs glycogenosis due to glut2 deficiency gsd due to glut2 deficiency Fanconi-Bickel syndrome atkin flaitz patil smith syndrome intellectual developmental disorder, x-linked 1 intellectual developmental disorder, x-linked 1, x-linked dominant iqsec2 (iq motif and sec7 domain 2) related syndromic intellectual disability iqsec2-related disorder iqsec2-related syndromic intellectual disability mental retardation, x-linked, nonspecific mrx severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome xlid1 Intellectual disability, X-linked 1 Faulk-Epstein-Jones syndrome Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome feigenbaum-bergeron-richardson syndrome Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome bifid femur co-occurrent with monodactylous ectrodactyly bifid femur with monodactylous ectrodactyly bifid femur-monodactylous ectrodactyly syndrome gollop wolfgang complex Gollop-wolfgang complex femur fibula ulna complex femur-fibula-ulna dysostosis femur-fibula-ulna syndrome ffu (femur, fibula, ulna) complex ffu complex pffd Femur-fibula-ulna complex ataxia, photosensitivity, short stature syndrome fenton wilkinson toselano syndrome fenton-wilkinson-toselano syndrome Ataxia-photosensitivity-short stature syndrome cerebellotrigeminal dermal dysplasia syndrome cerebellotrigeminal-dermal dysplasia syndrome craniosynostosis-alopecia-brain defect syndrome Gomez Lopez Hernandez syndrome Fetal akinesia syndrome, x-linked fnait nait Fetal and neonatal alloimmune thrombocytopenia blepharophimosis epicanthus inversus ptosis syndrome blepharophimosis types 1 and 2 blepharophimosis, epicanthus inversus, and ptosis, type 1 blepharophimosis, epicanthus inversus, and ptosis, type 2 blepharophimosis, ptosis, and epicanthus inversus blepharophimosis, ptosis, epicanthus inversus syndrome blepharophimosis-epicanthus inversus-ptosis syndrome blepharophimosis-ptosis-epicanthus inversus syndrome bpes bpes - blepharophimosis epicanthus inversus ptosis syndrome Blepharophimosis, ptosis, and epicanthus inversus syndrome kawashima-tsuji syndrome microcephaly with deafness and intellectual disability syndrome microcephaly-hearing loss-intellectual disability syndrome Microcephaly-deafness-intellectual disability syndrome Fetal enterovirus syndrome Fetal iodine syndrome Human respirovirus 3 caused infectious embryofetopathy Human respirovirus 3 infectious embryofetopathy Fetal parainfluenza virus type 3 syndrome cach cach (childhood ataxia with diffuse central nervous system hypomyelination) syndrome childhood ataxia with central nervous system hypomyelination childhood ataxia with diffuse central nervous system hypomyelination cree leukoencehalopathy eif2b1-related childhood ataxia with central nervous system hypomyelination/vanishing white matter eif2b2-related childhood ataxia with central nervous system hypomyelination/vanishing white matter eif2b3-related childhood ataxia with central nervous system hypomyelination/vanishing white matter eif2b4-related childhood ataxia with central nervous system hypomyelination/vanishing white matter eif2b5-related childhood ataxia with central nervous system hypomyelination/vanishing white matter myelinosis centralis diffusa Leukoencephalopathy with vanishing white matter fg syndrome caused by mutation in med12 med12 fg syndrome opitz kaveggia syndrome opitz-kaveggia syndrome, x-linked recessive Fg syndrome 1 Cacchi-Ricci disease MSK Precalicial canalicular ectasia Medullary sponge kidney Congenital fibrinogen deficiency Fibrochondrogenesis bhd1 fibrofolliculomas with trichodiscomas and acrochordons hornstein-knickenberg syndrome Birt-hogg-dube syndrome 1 cght congenital generalised hypertrichosis terminalis congenital generalized hypertrichosis terminalis hirsutism-congenital gingival hyperplasia syndrome hypertrichosis with acromegaloid facial features hypertrichosis with or without gingival hyperplasia hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia hypertrichosis, congenital generalized, with gingival hyperplasia Gingival fibromatosis-hypertrichosis syndrome fibrosarcoma (disease) fibrosarcoma (excluding infantile fibrosarcoma) fibrosarcoma - not infantile fibrosarcoma of soft tissue fibrosarcoma, malignant fibrous tissue neoplasm malignant fibromatous neoplasm Fibrosarcoma Fibular aplasia-ectrodactyly syndrome absence of dermatoglyphics-congenital milia syndrome absence of fingerprints-congenital milia syndrome baird syndrome basan-baird syndrome Basan syndrome amyloidosis, familial, finnish type amyloidosis, hereditary systemic 4, finnish type familial amyloid polyneuropathy type iv familial amyloidosis, finnish type gelsolin amyloidosis hereditary amyloidosis, finnish type lattice corneal dystrophy associated with familial systemic amyloidosis lattice dystrophy of the cornea with hereditary generalized amyloidosis meretoja syndrome meretoja's syndrome Finnish type amyloidosis d-glycerate kinase deficiency d-glyceric acidemia deficiency of glycerate kinase D-glyceric aciduria fitzsimmons-walson-mellor syndrome spastic paraplegia-nephritis-hearing loss syndrome Spastic paraplegia-nephritis-deafness syndrome fitzsimmons mclachlan gilbert syndrome fitzsimmons-mclachlan-gilbert syndrome spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Paraplegia-intellectual disability-hyperkeratosis syndrome friedel heid grosshans syndrome leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome FLOTCH syndrome Flynn-aird syndrome foix-chavany-marie syndrome Foix chavany Marie syndrome ichthyosis, follicular Follicular ichthyosis brill - symmers' disease follicle centre lymphoma follicular center cell lymphoma follicular centre cell lymphoma follicular lymphoma, somatic follicular lymphosarcoma germinoblastoma, follicular giant follicular lymphoma lymphoma, follicular center cell lymphoma, follicular centre cell lymphoma, follicular, malignant malignant lymphoma, centroblastic-centrocytic, follicular malignant lymphoma, follicle center malignant lymphoma, follicle center, follicular malignant lymphoma, follicular malignant lymphoma, follicular center cell malignant lymphoma, lymphocytic, nodular malignant lymphoma, nodular nodular lymphoma nodular lymphosarcoma Follicular lymphoma daentl towsend siegel syndrome daentl-townsend-siegel syndrome familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome hydrocephalus blue sclera nephropathy Hydrocephalus-blue sclerae-nephropathy syndrome forney syndrome forney-robinson-pascoe syndrome mitral regurgitation with deafness and skeletal anomalies syndrome mitral regurgitation-deafness-skeletal anomalies syndrome mitral regurgitation-hearing loss-skeletal anomalies syndrome Cardiospondylocarpofacial syndrome fowler urethral sphincter dysfunction syndrome fowler-christmas-chapple syndrome Polycystic ovaries-urethral sphincter dysfunction syndrome Dahlberg syndrome lymphedema-hypoparathyroidism syndrome Dahlberg-Borer-Newcomer syndrome Franceschini Vardeu Guala syndrome Frasier syndrome, autosomal dominant, somatic mutation Frasier syndrome fraxe intellectual developmental disorder, x-linked 109 intellectual developmental disorder, x-linked 109, x-linked recessive intellectual disability associated with fragile site fraxe intellectual disability, x-linked, fraxe type FRAXE intellectual disability boder syndrome Odontomatosis-aortae esophagus stenosis syndrome avascular necrosis of the metatarsal bone freiberg infraction freiberg's disease juvenile osteochondrosis of second metatarsal osteochondrosis of the metatarsal bone Freiberg disease Freire-Maia odontotrichomelic syndrome Freire-Maia syndrome odontotrichomelic hypohidrotic dysplasia tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities Odontotrichomelic syndrome 14q22-q23 microdeletion syndrome 14q22q23 microdeletion syndrome Del(14)(q22q23) monosomy 14q22-q23 monosomy 14q22q23 Frias syndrome microcephaly-hypogammaglobulinemia-abnormal immunity syndrome Say-Barber-Miller syndrome fronto-facio-nasal dysplasia frontofacionasal dysplasia frontofacionasal dysplasia syndrome Gollop syndrome fnd frontonasal dysplasia sequence median cleft face syndrome median facial cleft syndrome Frontonasal dysplasia froster-Huch syndrome Diaphragmatic defect-limb deficiency-skull defect syndrome fbpase deficiency fructose 1 phosphate aldolase deficiency fructose 1,6 bisphosphatase deficiency fructose-1,6-diphosphatase deficiency fructose-biphosphatase deficiency hereditary fructose-1,6-phosphatase deficiency Fructose-1,6-bisphosphatase deficiency fryns-hofkens-fabry syndrome mesomelic dysplasia of upper limb Upper limb mesomelic dysplasia Fryns Smeets Thiry syndrome Scalp defects-postaxial polydactyly syndrome fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome fuhrmann rieger de sousa syndrome fuhrmann-rieger-de sousa syndrome Fuhrmann syndrome Fukuda-Miyanomae-Nakata syndrome furukawa takagi nakao syndrome furukawa-takagi-nakao syndrome muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus furunculoid myiasis furunculous myiasis Furuncular myiasis ' fusion of mandibular incisor teeth Fused mandibular incisors say field coldwell syndrome triphalangeal thumb and dislocation of patella syndrome triphalangeal thumbs-dislocation of patella syndrome Say-field-Coldwell syndrome deficiency of galactokinase galactokinase deficiency galactosemia galactokinase deficiency with cataracts galactosemia - galactokinase deficiency galactosemia ii galk (galactokinase) deficiency galk-d Galactokinase deficiency galactosaemia galactose intolerance Galactosemia game-friedman-paradice syndrome growth delay with hydrocephalus and lung hypoplasia syndrome Growth delay-hydrocephaly-lung hypoplasia syndrome cth - cystathioninuria cystathionase deficiency cystathione gamma-lyase deficiency syndrome cystathionine gamma-lyase deficiency syndrome cystathioninuria (disease) gamma-cystathionase deficiency high urine cystathionine levels Cystathioninuria autosomal recessive duchenne-like muscular dystrophy type 1 autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcg deficiency of sarcoglycan gamma dmda1 gamma-sarcoglycan-related lgmd r5 gamma-sarcoglycan-related limb-girdle muscular dystrophy r5 gamma-sarcoglycanopathy lgmd due to gamma-sarcoglycan deficiency lgmd type 2c lgmd2c lgmdr5 limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency limb-girdle muscular dystrophy type 2c maghrebian myopathy muscular dystrophy, limb-girdle, autosomal recessive 5 muscular dystrophy, limb-girdle, type 2c scarmd severe childhood autosomal recessive muscular dystrophy north african type sgcg autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2c say-meyer syndrome trigonocephaly, short stature, developmental delay syndrome Trigonocephaly-short stature-developmental delay syndrome cns ganglioglioma glioneuroma neuroastrocytoma Ganglioglioma adult-onset gm1 gangliosidosis gangliosidosis, generalized gm1, type iii gm1 gangliosidosis type iii type 3 (adult) gm1 gangliosidosis GM1 gangliosidosis type 3 x-linked alport syndrome-diffuse leiomyomatosis xq22.3 microdeletion syndrome X-linked diffuse leiomyomatosis-Alport syndrome adenopapillomatosis gastrica chronic hypertrophic gastritis familial giant hypertrophic gastritis gastric hyperplasia gastric mucosal hyperplasia gastritis hypertrophic gigantica gastritis hypertrophica gigantea gastritis hypertrophica gigantica gastritis, hypertrophic giant rugal gastritis giant rugal hypertrophy giant rugal hypertrophy of stomach hyperplastic gastropathy hyperplastic gastropathy of mucous cell type hypertrophic bulbous gastritis hypertrophic gastropathy hypertrophic proliferative gastritis hypoproteinemic hypertrophic gastropathy massive hypertrophic gastritis ménétrier's disease polypoid swelling of gastric mucous membrane proliferative chronic hypertrophic gastritis Gastric mucosal hypertrophy alimentary part of gastrointestinal system net alimentary part of gastrointestinal system neuroendocrine neoplasm alimentary part of gastrointestinal system neuroendocrine tumor alimentary part of gastrointestinal system neuroendocrine tumor, well differentiated, low or intermediate grade alimentary part of gastrointestinal system neuroendocrine tumour carcinoid tumor of digestive system carcinoid tumour of digestive system digestive system net digestive system neuroendocrine tumor digestive system neuroendocrine tumor, well differentiated, low or intermediate grade digestive system neuroendocrine tumour gastro-enteropancreatic neuroendocrine tumor gastro-enteropancreatic neuroendocrine tumour gastroenteropancreatic endocrine tumor gastroenteropancreatic endocrine tumour neuroendocrine neoplasm of alimentary part of gastrointestinal system neuroendocrine neoplasm of digestive system Digestive system neuroendocrine neoplasm Gastrocutaneous syndrome gaucher disease, noncerebral juvenile gaucher's disease type i gaucher's disease, type 1 gaucher's disease, type i gba deficiency gd i gd1 glucocerebrosidase deficiency type i non-cerebral juvenile gaucher disease noncerebral juvenile gaucher's disease Gaucher disease type I acute cerebral gaucher's disease acute neuronopathic gaucher disease acute neuronopathic gaucher's disease cerebral acute gaucher disease gaucher disease type 2 (acute) gaucher disease, acute neuronopathic type gaucher's disease type ii gaucher's disease, type ii gd ii gd2 glucocerebrosidase deficiency type ii glucosylceramidase deficiency, acute type infantile cerebral gaucher disease infantile cerebral gaucher's disease infantile gaucher disease infantile gaucher's disease Gaucher disease type II cerebral juvenile and adult form of gaucher disease chronic neuronopathic gaucher disease gaucher disease type 3 (subacute/chronic) gaucher disease, chronic neuronopathic type gaucher disease, juvenile and adult, cerebral gaucher disease, subacute neuronopathic type gaucher's disease type iii gaucher's disease, type iii gd iii glucocerebrosidase deficiency type iii glucosylceramidase deficiency, subacute type juvenile gaucher disease juvenile gaucher's disease norrbottnian gaucher disease subacute neuronopathic gaucher disease subacute neuronopathic gaucher's disease Gaucher disease type III geleophysic dwarfism Geleophysic dysplasia spinocerebellar ataxia, amyotrophy, deafness syndrome spinocerebellar ataxia-amyotrophy-deafness syndrome spinocerebellar ataxia-amyotrophy-hearing loss syndrome Gemignani syndrome fbn1-related weill-marchesani syndrome gemss gemss syndrome glaucoma, ectopia, microspherophakia, stiff joints and short stature syndrome glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome weill-marchesani syndrome 2 weill-marchesani syndrome type 2 weill-marchesani syndrome, autosomal dominant wms2 Weill-Marchesani syndrome 2, dominant camero lituania cohen syndrome camero-lituania-cohen syndrome genoa syndrome holoprosencephaly craniosynostosis syndrome Holoprosencephaly-craniosynostosis syndrome schisis association syndrome Schisis association gardner silengo wachtel syndrome gardner-silengo-wachtel syndrome Genito-palato-cardiac syndrome congenital giant melanocytic nevus congenital melanocytic nevi congenital melanocytic nevus congenital melanocytic nevus - large congenital melanocytic nevus of skin congenital melanocytic nevus of the skin congenital nevus of skin congenital nevus of the skin congenital pigmented melanocytic nevus congenital pigmented nevus congenital pigmented nevus of skin congenital pigmented nevus of the skin congenital pigmented skin nevus congenital skin nevus gcmn - giant congenital melanocytic nevus giant pigmented hairy nevus giant pigmented mole gmn intermediate and giant congenital nevus large congenital pigmented melanocytic nevus of skin lcmn lcmn - large congenital melanocytic nevus melanocytic nevus syndrome, congenital, somatic spitz nevus or nevus spilus, somatic Large congenital melanocytic nevus scarf (skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality) syndrome skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome Scarf syndrome Bernard - Soulier thrombopathy Bernard Soulier syndrome Bernard-Soulier syndrome, type A1 (recessive) Hemorrhagiparous thrombocytic dystrophy giant platelet disorder, isolated giant platelet syndrome hemorrhagic dystrophic thrombocytopenia thrombopathy, Bernard-Soulier Bernard-soulier syndrome GINGF2 Fibromatosis, gingival, 2 GINGF4 Fibromatosis, gingival, 4 bleeding disorder, platelet-type, 2 glanzmann thromboasthenia glanzmann's disease glanzmann's syndrome glanzmann's thrombasthenia glanzmann-naegeli disorder hereditary hemorrhagic thrombasthenia hereditary thromboasthenia platelet glycoprotein iib-iiia deficiency thrombasthenia of glanzmann and naegeli thrombasthenia of glanzmann and naegeli, itga2b-related thrombasthenia of glanzmann and naegeli, itgb3-related Glanzmann thrombasthenia cataract-hearing loss-hypogonadism syndrome congenital cataract with deafness and hypogonadism syndrome schaap taylor baraitser syndrome schaap-taylor-baraitser syndrome Cataract-deafness-hypogonadism syndrome Glaucoma-sleep apnea syndrome glaucoma 1C, primary open angle Glaucoma type 1C hereditary glaucoma (disease) pediatric-onset glaucoma of genetic origin Hereditary glaucoma CDD Craniodiaphyseal dysplasia, autosomal dominant GLC3B Glaucoma 3, primary infantile, b GBM GBM (glioblastoma) WHO grade IV glioma glioblastoma (disease) glioblastoma multiforme glioblastoma multiforme (disease) grade IV astrocytic neoplasm grade IV astrocytic tumor grade IV astrocytic tumour grade IV astrocytoma primary glioblastoma multiforme spongioblastoma multiforme Glioblastoma hltrs (hypotrichosis, lymphedema, telangiectasia, renal defect) syndrome hypotrichosis, lymphedema, telangiectasia, renal defect syndrome Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome Glucagonoma syndrome Familial glucocorticoid deficiency generalized glucocorticoid resistance syndrome Glucocorticoid resistance aberfeld syndrome burton skeletal dysplasia burton syndrome catel hempel syndrome catel-hempel syndrome catel-hempel type dysostosis enchondralis metaepiphysaria chondrodystrophic myotonia dysostosis enchondralis metaepiphysaria, catel-hempel type myotonia chondrodystrophica myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies osteochondromuscular dystrophy schwartz-jampel-aberfeld syndrome sjs sjs1 Schwartz-Jampel syndrome SLC37A4 glycogen storage disease I glucose-6-phosphate translocase deficiency glycogen storage disease I caused by mutation in SLC37A4 Glycogen storage disease type 1 due to SLC37A4 mutation GSD due to hepatic glycogen synthase deficiency GSD type 0a glycogen storage disease due to glycogen synthase deficiency of liver glycogen storage disease due to hepatic glycogen synthase deficiency glycogen storage disease due to liver glycogen synthase deficiency glycogen storage disease type 0a glycogen synthase deficiency glycogenosis type 0a liver glycogen storage disease due to glycogen synthase deficiency Glycogen storage disorder due to hepatic glycogen synthase deficiency g6p deficiency type ib g6p translocase deficiency g6pt deficiency glucose 6-phosphate transport defect glycogen storage disease due to g6p deficiency type ib glycogen storage disease ib glycogen storage disease ic glycogen storage disease type 1b glycogen storage disease type ic glycogenosis due to glucose-6-phosphatase deficiency type 1b glycogenosis due to glucose-6-phosphatase transport defect type ib glycogenosis type 1b glycogenosis type ib gsd due to g6p deficiency type ib gsd due to g6pt deficiency gsd ib gsd type 1 non a gsd type 1b gsd type ib gsd1b gsdib Glucose-6-phosphate transport defect 1,4,alpha-glucan 6-alpha-glucosyltransferase deficiency amylopectinosis andersen disease andersen disease (gsd iv) andersen's disease brancher deficiency glycogen storage disease brancher deficiency glycogenosis branching enzyme deficiency branching-transferase deficiency glycogenosis deficiency of 1,4-alpha-glucan branching enzyme deficiency of amylo-(1,4,6)-transglycosylase deficiency of branching enzyme gbe1 glycogen storage disease glycogen storage disease caused by mutation in gbe1 glycogen storage disease type 4 glycogen storage disease, type 4 glycogen storage disease, type iv glycogenosis due to glycogen branching enzyme deficiency glycogenosis iv glycogenosis type 4 glycogenosis type iv glycogenosis, type 4 gsd due to glycogen branching enzyme deficiency gsd type 4 gsd type iv Glycogen storage disease due to glycogen branching enzyme deficiency gm2 gangliosidosis 0 variant gm2-gangliosidosis, type ii gm>2< gangliosidosis, type 2 hexosaminidase a and b deficiency o variant sandhoff disease, infantile, juvenile, and adult forms sandhoff jatzkewitz disease Sandhoff disease goniodysgenesis with intellectual disability and short stature syndrome goniodysgenesis with mental deficiency and short stature goniodysgenesis-intellectual disability-short stature syndrome Gms syndrome pure gonadal dysgenesis Gonadal dysgenesis 45, x/46, xy mosaicism 46, xy mosaicism 45, x Mixed gonadal dysgenesis gonadal dysgenesis xy type with associated anomalies xy type gonadal dysgenesis with associated anomalies syndrome XY type gonadal dysgenesis-associated anomalies syndrome gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance xx gonodal dysgenesis-deafness syndrome xx gonodal dysgenesis-hearing loss syndrome Perrault syndrome conjunctivitis gonococcal gonococcal ophthalmia neonatorum Gonococcal conjunctivitis acps 4 acps iv Acrocephalosyndactyly type V anti gbm - antiglomerular basement membrane disease anti-gbm nephritis with pulmonary hemorrhage anti-gbm syndrome goodpasture disease goodpasture's disease goodpasture's syndrome hemorrhagic pneumonia and glomerulonephritis lung purpura with nephritis syndrome pulmonary hemorrhage with glomerulonephritis pulmonary hemosiderosis with glomerulonephritis pulmonary-renal syndrome Anti-glomerular basement membrane disease arthrogryposis multiplex congenita, distal, type iia camptodactyly, cleft palate, clubfoot syndrome camptodactyly-cleft palate-clubfoot syndrome distal arthrogryposis type 3 distal arthrogryposis type iia gordon's syndrome Gordon syndrome cystic hamartoma of lung and kidney graham Boyle Troxell syndrome Graham-Boyle-Troxell syndrome Grant syndrome alpha storage pool deficiency bdplt4 deficient alpha granule syndrome gps platelet alpha granule deficiency platelet alpha-granule deficiency platelet granule defect platelet-type bleeding disorder 4 Gray platelet syndrome griscelli syndrome with neurological impairment griscelli syndrome, cutaneous and neurological type griscelli-pruniéras syndrome type 1 gs1 hypopigmentation-immunodeficiency disease type 1 hypopigmentation-neurologic impairment syndrome Griscelli syndrome type 1 deafness, small bowel diverticulosis, neuropathy syndrome groll-hirschowitz syndrome hearing loss-small bowel diverticulosis-neuropathy syndrome Deafness-small bowel diverticulosis-neuropathy syndrome intellectual disability, balding, patella luxation, acromicria syndrome scholte begeer-van essen syndrome scholte-begeer-van essen syndrome shlts Intellectual disability-balding-patella luxation-acromicria syndrome facial dysmorphism, intellectual deficit, short stature and hearing loss facial dysmorphism-intellectual disability-short stature-deafness syndrome facial dysmorphism-intellectual disability-short stature-hearing loss syndrome laryngotracheal stenosis, arthropathy, prognathism and short stature Myhre syndrome developmental delay, hypotonia, extremities hypertrophy syndrome developmental delay-hypotonia-extremities hypertrophy syndrome grubben, de cock, borghgraef syndrome Grubben-de Cock-Borghgraef syndrome cerebral creatine deficiency syndrome type 2 deficiency of guanidinoacetate methyltransferase disorder of guanidinoacetate n-methyltransferase activity gamt deficiency guanidinoacetate n-methyltransferase activity disease Guanidinoacetate methyltransferase deficiency autosomal recessive malignant osteopetrosis caused by mutation in tcirg1 autosomal recessive osteopetrosis caused by mutation in tcirg1 optb1 osteopetrosis, autosomal recessive type 1 tcirg1 autosomal recessive malignant osteopetrosis tcirg1 autosomal recessive osteopetrosis tcirg1-related autosomal recessive osteopetrosis Autosomal recessive osteopetrosis 1 radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema schmitt gillenwater kelly syndrome schmitt-gillenwater-kelly syndrome Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome corneal dystrophy epithelial-short stature syndrome guízar vázquez luengas muñoz syndrome guízar vázquez-luengas-muñoz syndrome X-linked corneal dermoid hall riggs syndrome Hall-riggs syndrome Hamanishi Ueba Tsuji syndrome Hamanishi-Ueba-Tsuji syndrome Polyneuropathy-hand defect syndrome diabetes insipidus, nephrogenic, with impaired intellectual development and intracerebral calcification nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome schofer-beetz-bohl syndrome Nephrogenic diabetes insipidus-intracranial calcification syndrome hand and foot deformity-flat facies syndrome Emery-Nelson syndrome HFGS hand-foot-uterus syndrome Hand-foot-genital syndrome Hapnes-Boman-Skeie syndrome Extensor tendons of finger anomalies hard skin syndrome, parana type hard-skin syndrome, parana type Parana hard-skin syndrome cerebroocular dysplasia-muscular dystrophy syndrome hard (hydrocephalus, agyria, retinal dysplasia) syndrome hard syndrome hydrocephalus-agyria-retinal dysplasia syndrome muscular dystrophy-dystroglycanopathy, type a walker warburg syndrome walker-warburg muscular dystrophy wws Walker-Warburg congenital muscular dystrophy cat-eye syndrome (type i) ces ces - cat eye syndrome schachenmann's syndrome Cat eye syndrome early-onset cerebellar ataxia with retained tendon reflexes eoca eoca - early onset cerebellar ataxia with retained tendon reflexes eocarr harding ataxia Early onset cerebellar ataxia with retained tendon reflexes cranio-facio-digito-genital syndrome craniofacial digital and genital anomalies syndrome Harrod syndrome congenital langerhans cell histiocytosis congenital self-healing histiocytosis langerhans cell histiocytosis - hashimoto-pritzker type Hashimoto-Pritzker syndrome haspeslagh fryns muelenaere syndrome haspeslagh-fryns-muelenaere syndrome short stature with craniofacial anomalies and genital hypoplasia syndrome Short stature-craniofacial anomalies-genital hypoplasia syndrome PFHB1B TRPM4 progressive familial heart block progressive familial heart block caused by mutation in TRPM4 Progressive familial heart block type IB heart defect and limb shortening syndrome Heart defects-limb shortening syndrome atriodigital dysplasia type 3 cardiomelic syndrome type 3 heart hand syndrome spanish type heart limb syndrome type 3 heart-hand syndrome, spanish type heart-limb syndrome type 3 Heart-hand syndrome type 3 narp (neurogenic muscle weakness, ataxia, retinitis pigmentosa) syndrome neurogenic muscle weakness, ataxia and retinitis pigmentosa neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome neuropathy-ataxia-retinitis pigmentosa syndrome Narp syndrome hec (hydrocephalus, endocardial fibroelastosis, cataract) syndrome hydrocephalus with endocardial fibroelastosis and cataract syndrome hydrocephalus-endocardial fibroelastosis-cataract syndrome Hec syndrome distal arthrogryposis type 7 dutch kentucky syndrome dutch-kentucky syndrome hecht beals syndrome hecht-beals syndrome trismus pseudocamptodactyly syndrome trismus-pseudocamptodactyly syndrome Hecht syndrome fatco syndrome fibular aplasia, tibial campomelia, oligo-syndactyly syndrome fibular aplasia-tibial campomelia-oligosyndactyly syndrome terminal transverse defects of the limbs associated with congenital heart malformations Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome Hemangiopericytoma, malignant Hemicorporal hypertrophy hemi 3 syndrome hemihypertrophy isolated hemihypertrophy Isolated hemihyperplasia hemifacial hyperplasia strabismus syndrome hemifacial hyperplasia-strabismus syndrome Bencze syndrome Hemimegalencephaly epiphyseal dysplasia, microcephalus, nystagmus syndrome epiphyseal dysplasia, multiple, with microcephaly and retinal dystrophy epiphyseal dysplasia-microcephaly-nystagmus syndrome lowry wood syndrome lws Lowry-wood syndrome hb-e disease hemoglobin e-e disease homozygous for hb e Hemoglobin e disease water-West syndrome Lethal hemolytic anemia-genital anomalies syndrome kersey syndrome Trichodental syndrome HAT HIT heparin-associated thrombocytopenia heparin-induced thrombocytopenia (disease) heparin-induced thrombocytopenia type 2 Heparin-induced thrombocytopenia biliary hamartoma mhl vmc von meyenburg complexes disease Liver mesenchymal hamartoma embryonal hepatoma hbl hbl - hepatoblastoma hepatoblastoma of liver hepatoblastoma, malignant paediatric embryonal hepatoma paediatric hepatoblastoma Hepatoblastoma deficiency of beta-diketonase deficiency of fumarylacetoacetase fah-gene related tyrosinemia type 1 fumarylacetoacetase deficiency fumarylacetoacetate hydrolase deficiency hepatorenal tyrosinemia Tyrosinemia type i autosomal recessive methemoglobinemia Hereditary methemoglobinemia Herpesviridae caused infectious embryofetopathy Herpesviridae infectious embryofetopathy congenital infection caused by herpes virus Congenital herpes virus infection KPTS Keipert syndrome, X-linked recessive nasodigitoacoustic syndrome nasodigitoacoustic syndrome, formerly Keipert syndrome christianson fourie syndrome christianson-fourie syndrome hidrotic ectodermal dysplasia christianson fourie type Hidrotic ectodermal dysplasia, christianson-fourie type congenital high-molecular-weight kininogen deficiency fitzgerald factor deficiency fitzgerald-flaujeac-williams-reid trait kininogen deficiency reduced kininogen activity williams factor deficiency williams-fitzgerald-flaujeac factor deficiency High molecular weight kininogen deficiency ivic ivic (instituto venezolano de investigaciones cientificas) syndrome ivic syndrome oculo-oto-radial syndrome Oculootoradial syndrome beukes familial hip dysplasia bfhd cilliers beighton syndrome cilliers-beighton syndrome premature degenerative osteoarthropathy of hip premature degenerative osteoarthropathy of the hip Hip dysplasia, beukes type hirschsprung disease, ganglioneuroblastoma syndrome Hirschsprung disease-ganglioneuroblastoma syndrome bartonellosis due to bartonella henselae infection benign inoculation lymphoreticulosis benign lymphoreticulosis cat scratch fever cat-scratch fever csd - cat scratch disease debre's syndrome debre-mollaret syndrome foshay-mollaret cat scratch fever Cat scratch disease smarca2-related bafopathy smarca2-related nicolaides-baraitser syndrome Intellectual disability-sparse hair-brachydactyly syndrome Hirschsprung disease-type D brachydactyly syndrome his bundle (junctional ectopic) tachycardia his bundle tachycardia jet Junctional ectopic tachycardia histidinuria due to a renal tubular defect histidinuria-renal tubular defect syndrome hyperhistidinuria renal histidinuria Histidine transport defect 3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency hmg-coa synthase deficiency hmg-coa synthase-2 deficiency 3-hydroxy-3-methylglutaryl-CoA synthase deficiency HL Hodgkin disease Hodgkin lymphoma Hodgkin's lymphoma hodgkin's disease Hodgkins lymphoma Sujansky-Leonard syndrome VACTERL with hydrocephalus Holoacardius amorphus biotin-(propionyl-coa-carboxylase) ligase deficiency early-onset multiple carboxylase deficiency holocarboxylase synthase deficiency multiple carboxylase deficiency - neonatal onset Holocarboxylase synthetase deficiency hartsfield bixler demyer syndrome holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome holoprosencephaly-ectrodactyly-cleft lip palate syndrome holoprosencephaly-ectrodactyly-cleft lip/palate syndrome Hartsfield-Bixler-Demyer syndrome Holoprosencephaly-radial heart renal anomalies syndrome cleft palate, potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome cleft palate-potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome holzgreve syndrome holzgreve wagner rehder syndrome Holzgreve-Wagner-Rehder syndrome type of gerodermia osteodysplastica wrinkled skin syndrome wss wss - wrinkly skin syndrome Wrinkly skin syndrome Homocarnosinosis homocysteinuria due to mthfr deficiency methylene tetrahydrofolate reductase deficiency mthfr deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Hordnes Engebretsen Knudtson syndrome Woods Black Norbury syndrome Woods-Black-Norbury syndrome Woods-Black-Norbury syndrome, X-linked dominant X-linked immunoneurological disorder immunoneurologic disorder, X-linked neonatal death immune deficiency X-linked immunoneurologic disorder Houlston-Ironton-Temple syndrome Atrioventricular defect-blepharophimosis-radial and anal defect syndrome fusion of upper and lower arm bones humeral radial synostosis humeral-radial synostosis humero-radial fusion humeroradial synostosis (disease) radiohumeral synostosis of elbow synostosis of radius and humerus Humeroradial synostosis humero-radio-ulnar fusion humeroradioulnar synostosis Humero-radio-ulnar synostosis aplasia of trochlea of humerus Humerus trochlea aplasia hunter mcalpine craniosynostosis syndrome Hunter-McAlpine craniosynostosis hunter-rudd-hoffmann syndrome trigonocephaly with broad thumb syndrome Trigonocephaly-broad thumbs syndrome eunuchoidism, familial hypogonadotropic familial hypogonadotrophic eunuchoidism familial idiopathic gonadotrpin deficiency Hypogonadotropic hypogonadism 12 with or without anosmia Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Hydatidosis echinococcus granulosus echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid hydatid disease liver echinococcus granulosus lung echinococcus granulosus thyroid echinococcus granulosus unilocular echinococcosis unilocular hydatid disease Cystic echinococcosis hyde forster-mccarthy-berry syndrome mental retardation, x-linked hyde-forster type x-linked intellectual disability with plagiocephaly syndrome X-linked intellectual disability-plagiocephaly syndrome euhidrotic ectodermal dysplasia kopysc barczyk krol syndrome kopysc-barczyk-krol syndrome pilodental dysplasia, refractive errors syndrome Pilodental dysplasia-refractive errors syndrome hydrocephalus with obesity and hypogonadism syndrome sengers hamel otten syndrome sengers-hamel-otten syndrome Hydrocephalus-obesity-hypogonadism syndrome fetal anasarca fetal hydrops foetal anasarca foetal hydrops generalised foetal oedema generalized fetal edema hf hf - hydrops fetalis hf - hydrops foetalis hydrops fetalis (disease) hydrops foetalis Hydrops fetalis dwarf tapeworm infection hymenolepiosis hymenolepis infectious disease Hymenolepiasis hids hids - hyper-igd periodic fever syndrome hyper-igd periodic fever syndrome hyper-igd syndrome hyper-immunoglobulin d periodic fever syndrome hyperimmunoglobinemia d with recurrent fever hyperimmunoglobulinemia d hyperimmunoglobulinemia d syndrome hyperimmunoglobulinemia d with periodic fever partial mevalonate kinase deficiency Hyperimmunoglobulin D with periodic fever familial adrenal adenoma fh ii fh-ii fh2 Familial hyperaldosteronism type ii aldosteronism, glucocorticoid-remediable dexamethasone-sensitive hypertension fh i fh-i fh1 glucocorticoid-sensitive hypertension gra gra - glucocorticoid-remediable aldosteronism Glucocorticoid-remediable aldosteronism hyperbilirubinemia, familial transient neonatal transient familial neonatal hyperbilirubinemia Lucey-Driscoll syndrome black liver-jaundice syndrome chronic idiopathic jaundice with pigmented liver djs - dubin-johnson syndrome dubin johnson syndrome dubin-sprinz disease dubin-sprinz syndrome hyperbilirubinemia ii hyperbilirubinemia type 2 icterus-hepatic pigmentation syndrome jaundice, chronic idiopathic sprinz nelson syndrome sprinz-nelson syndrome Dubin-johnson syndrome casr familial hypocalciuric hypercalcemia familial benign hypercalcemia 1 familial hypocalciuric hypercalcemia caused by mutation in casr familial hypocalciuric hypercalcemia type 1 familial hypocalciuric hypercalcemia type i familial hypocalciuric hypercalcemia, type i fhh type 1 hhc1 hpocalciuric hypercalcemia, type i hypocalciuric hypercalcemia type i Familial hypocalciuric hypercalcemia 1 hyperphalangy-clinodactyly of index finger with pierre robin syndrome index finger anomaly-pierre robin syndrome micrognathia digital syndrome palatodigital syndrome, catel-manzke type pierre robin sequence-hyperphalangy-clinodactyly syndrome pierre robin syndrome-hyperphalangy-clinodactyly syndrome Catel-manzke syndrome ectodermal dysplasia with skin anomalies and intellectual disability ectodermal dysplasia with skin anomaly and intellectual disability halal-setton-wang syndrome trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome Hidrotic ectodermal dysplasia, halal type eosinophilic leukocytosis hes hes - hypereosinophilic syndrome hypereosinophilic disease hypereosinophilic disorder Hypereosinophilic syndrome bonneau-beaumont syndrome hereditary hyperferritinemia-cataract syndrome hhcs Hereditary hyperferritinemia with congenital cataracts glycerol kinase deficiency - isolated hyperglycerolemia isolated inborn glycerol kinase deficiency nonsyndromic glycerol kinase deficiency nonsyndromic inborn glycerol kinase deficiency Isolated glycerol kinase deficiency fmr1 primary ovarian failure fragile x associated primary ovarian insufficiency fragile x premature ovarian failure premature ovarian failure type 1 primary ovarian failure caused by mutation in fmr1 primary ovarian insufficiency, fragile x-associated Premature ovarian failure 1 cid due to dock8 deficiency combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency dock8 immunodeficiency syndrome hies2 hyper-ige recurrent infection syndrome 2, autosomal recessive hyper-ige syndrome 2, autosomal recessive, with recurrent infections Combined immunodeficiency due to dock8 deficiency gck-related hyperinsulinism hyperinsulinemic hypoglycemia due to glucokinase deficiency hyperinsulinemic hypoglycemia, familial, type 3 Hyperinsulinism due to glucokinase deficiency osteomalacia, sclerosing, with cerebral calcification osteosclerotic bone dysplasia, lethal raine dysplasia raine syndrome Lethal osteosclerotic bone dysplasia flegel disease flegels disease hlp - hyperkeratosis lenticularis perstans hyperkeratosis lenticularis perstans (disease) Hyperkeratosis lenticularis perstans EPPK diffuse erythrodermic palmoplantar keratoderma, Voerner type diffuse erythrodermic palmoplantar keratoderma, Vörner type epidermolytic palmoplantar keratoderma of Voerner epidermolytic palmoplantar keratoderma of Vörner Epidermolytic palmoplantar keratoderma, 1 elevated blood lysine hyperlysinemia (disease) hyperlysinemia type i hyperlysinemias lysine alpha-ketoglutarate reductase deficiency Hyperlysinemia hhh - hyperornithinemia-hyperammonemia-homocitrullinuria syndrome hyperornithinemia-hyperammonemia-homocitrullinemia syndrome hyperornithinemia-hyperammonemia-homocitrullinuria (hhh) syndrome ornithine carrier deficiency ornt1 deficiency slc25a15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome triple h syndrome Ornithine translocase deficiency chronic congenital idiopathic hyperphosphatasemia familial hyperphosphatasia familial idiopathic hyperphosphatasemia familial osteoectasia hereditary hyperphosphatasia hyperostosis corticalis deformans juvenilis hyperphosphatasemia with bone disease jpg juvenile paget's disease osteochalasia desmalis familiaris osteoectasia familial osteoectasia with hyperphosphatasia paget disease of bone 5 paget disease, juvenile Juvenile paget disease hyperostosis corticalis generalisata hyperphosphatasia tarda leontiasis ossea generalisata sost-related sclerosing bone dysplasias van buchem disease type 1 van buchem's syndrome Hyperphosphatasemia tarda 2-oxoglutarate glyoxylate carboligase deficiency agxt primary hyperoxaluria alanine-glycoxylate aminotransferase deficiency glycolic aciduria oxalosis i oxalosis type i peroxisomal alanine-glyoxylate aminotransferase deficiency ph1 primary hyperoxaluria caused by mutation in agxt primary hyperoxaluria, type i Primary hyperoxaluria type 1 d-glycerate dehydrogenase deficiency deficiency of glycerate dehydrogenase deficiency of glyoxylate reductase glycerate dehydrogenase deficiency glyceric dehydrogenase deficiency glyoxylate reductase deficiency grhpr primary hyperoxaluria l-glyceric aciduria oxalosis ii oxalosis type ii primary hyperoxaluria caused by mutation in grhpr primary hyperoxaluria, type ii Primary hyperoxaluria type 2 NSHPT hyperparathyroidism, neonatal Neonatal severe primary hyperparathyroidism irons bianchi syndrome irons-bhan syndrome irons-bianchi syndrome lymphedema, atrial septal defect, facial changes syndrome Lymphedema-atrial septal defects-facial changes syndrome CADH deficiency PCBD deficiency PCBD1 deficiency PCD deficiency dehydratase deficiency hyperphenylalaninemia due to dehydratase deficiency hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency hyperphenylalaninemia with primapterinuria hyperphenylalaninemia, Bh4-deficient, type D Pterin-4 alpha-carbinolamine dehydratase 1 deficiency gtpch deficiency hyperphenylalaninemia due to gtp cyclohydrolase deficiency hyperphenylalaninemia, bh4-deficient, type b hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency GTP cyclohydrolase I deficiency with hyperphenylalaninemia prolinemia Hyperprolinemia birth defect due to maternal hyperthermia maternal hyperthermia induced birth defect maternal hyperthermia-induced birth defects Maternal hyperthermia induced birth defects familial non-immune hyperthyroidism resistance to thyroid stimulating hormone Familial hyperthyroidism due to mutations in tsh receptor congenital generalised hypertrichosis, macias-flores type congenital generalized hypertrichosis, macias-flores type hypertrichosis, congenital generalized, 2 hypertrichosis, congenital generalized, x-linked dominant macias flores-garcia cruz-rivera syndrome X-linked congenital generalized hypertrichosis malignant down Acquired hypertrichosis lanuginosa hypertrichosis universalis hypertrichosis universalis congenita Hypertrichosis lanuginosa congenita acro-fronto-facio-nasal dysostosis type 2 acrofrontofacionasal dysostosis 2 acrofrontofacionasal syndrome type 2 hypertelorism, hypospadias, polysyndactyly syndrome hypertelorism-hypospadias-polysyndactyly syndrome naguib richieri costa syndrome naguib-richieri-costa syndrome Acrofrontofacionasal dysostosis type 2 Familial hypertryptophanemia APOB hypobetalipoproteinemia FHBL1 familial hypobetalipoproteinemia type 1 hypobetalipoproteinemia caused by mutation in APOB hypobetalipoproteinemia, familial, type 1 Familial hypobetalipoproteinemia 1 ad hypocalcemia familial hypocalcemia hypocalcemia, autosomal dominant Autosomal dominant hypocalcemia ap2s1 familial hypocalciuric hypercalcemia familial benign hypercalcemia, type iii familial hypocalciuric hypercalcemia caused by mutation in ap2s1 familial hypocalciuric hypercalcemia type 3 fhh type 3 hhc3 hpocalciuric hypercalcemia, type iii hypocalciuric hypercalcemia type iii hypocalciuric hypercalcemia, type iii Familial hypocalciuric hypercalcemia 3 franc'ois dyscephalic syndrome francois dyscephalic syndrome françois dyscephalic syndrome hallerman - streiff syndrome oculomandibulodyscephaly with hypotrichosis syndrome oculomandibulofacial syndrome Hallermann-streiff syndrome Achondrogenesis Oestridae caused disease or disorder Oestridae disease or disorder Oestridae infectious disease Hypodermyiasis Familial hypofibrinogenemia hypogonadotropic hypogonadism 7 without anosmia idiopathic gonadotrophin deficiency isolated gonadotropin-releasing hormone (gnrh) deficiency Hypogonadotropic hypogonadism 7 with or without anosmia charge charge (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies) syndrome charge association coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome coloboma, heart defects, choanal atresia, retardation of growth and development, genital abnormalities, and ear anomalies association coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome colobomatous microphthalmia, heart disease, hearing loss, and mental retardation hall hittner syndrome hall-hittner syndrome hittner hirsch kreh syndrome Charge syndrome hallermann streiff françois syndrome severe form hallermann streiff like syndrome hallermann-streiff-françois syndrome, severe form hallermann-streiff-like syndrome severe hallermann-streiff-françois syndrome Dennis-Fairhurst-Moore syndrome cldn16 familial primary hypomagnesemia cldn16 primary hypomagnesemia familial primary hypomagnesemia caused by mutation in cldn16 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement fhhnc without severe ocular involvement homg3 isolated renal hypomagnesemia primary hypomagnesemia caused by mutation in cldn16 primary hypomagnesemia due to defect in renal tubular transport of magnesium primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement renal hypomagnesemia 3 renal hypomagnesemia type 3 Primary hypomagnesemia Hypomandibular faciocranial dysostosis Mullerian duct anomalies-limb anomalies syndrome casr-related familial isolated hypoparathyroidism familial isolated hypoparathyroidism fih gcm2-related familial isolated hypoparathyroidism hypoparathyroidism familial isolated hypoparathyroidism, familial hypoparathyroidism, familial isolated pth-related familial isolated hypoparathyroidism Familial hypoparathyroidism hdr (hypoparathyroidism, sensorineural deafness, renal disease) syndrome hdr syndrome hdrs hypoparathyroidism, deafness, and renal anomalies syndrome hypoparathyroidism, deafness, renal disease syndrome hypoparathyroidism, sensorineural deafness, and renal disease hypoparathyroidism-sensorineural deafness-renal disease syndrome hypoparathyroidism-sensorineural hearing loss-renal disease syndrome Hypoparathyroidism-deafness-renal disease syndrome ichthyosis with alopecia, eclabium, ectropion, and impaired intellectual development ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome jagell, holmgren, hofer syndrome jagell-holmgren-hofer syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome pseudotruncus arteriosus right hypoplastic heart syndrome Hypoplastic right heart syndrome dysprothrombinemia hereditary factor ii deficiency disease inherited hypoprothrombinemia inherited prothrombin deficiency Congenital prothrombin deficiency Goldblatt-Wallis syndrome Hypospadias-intellectual disability, goldblatt type syndrome brss hypotelorism, cleft palate, hypospadias syndrome hypotelorism-cleft palate-hypospadias syndrome schilbach rott syndrome Schilbach-rott syndrome hypothalamic hamartomas pallister-hall-like syndrome tuber cinereum hamartoma Hamartoma of hypothalamus gdth i genetic defect in thyroid hormonogenesis i Hypothyroidism due to iodide transport defect deficiency of guanine phosphoribosyltransferase deficiency of hypoxanthine phosphoribosyltransferase deficiency of hypoxanthine-guanine phosphoribosyltransferase deficiency of imp pyrophosphorylase hprt deficiency hprt1 deficiency hypoxanthine-guanine phosphoribosyltransferase 1 deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency centromeric instability, immunodeficiency syndrome icf1 immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16 immunodeficiency syndrome, variable immunodeficiency-centromeric instability-facial anomalies immunodeficiency-centromeric instability-facial anomalies syndrome Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency autosomal recessive kid (keratitis, ichthyosis, deafness) syndrome ichthyosiform erythroderma, corneal involvement, and hearing loss Autosomal recessive keratitis-ichthyosis-deafness syndrome ichthyosis follicularis, atrichia, and photophobia syndrome ichthyosis follicularis-alopecia-photophobia syndrome ichthyosis follicularis-atrichia-photophobia syndrome IFAP syndrome Curth-Macklin type ichthyosis hystrix IHCM ichthyosis histrix, curth-macklin type ichthyosis hystrix, curth macklin type ichthyosis hystrix, curth-macklin type Ichthyosis hystrix of curth-macklin lopes-gorlin syndrome short tarsus with absence of lower eyelashes syndrome Short tarsus-absence of lower eyelashes syndrome Clayton Smith-Donnai syndrome Ichthyosis-oral and digital anomalies syndrome bullous type ichthyosis sei superficial epidermolytic ichthyosis Ichthyosis bullosa of Siemens double-edged scaling serpiginous scaling Ichthyosis linearis circumflexa ASGD3 FOXC1 iridogoniodysgenesis IGDA IGDA syndrome IRID1 anterior segment dysgenesis 3, multiple subtypes iridogoniodysgenesis anomaly, autosomal dominant iridogoniodysgenesis caused by mutation in FOXC1 iridogoniodysgenesis type 1 iridogoniodysgenesis, type 1 Anterior segment dysgenesis 3 cataract and testicular failure syndrome hypergonadotropic hypogonadism with cataract syndrome lubinsky syndrome Hypergonadotropic hypogonadism-cataract syndrome ciliary dyskinesia with defective radial spokes Immotile cilia syndrome due to defective radial spokes ciliary dyskinesia with excessively long cilia Immotile cilia syndrome due to excessively long cilia Immune deficiency, familial variable achondroplasia, severe combined immunodeficiency syndrome achondroplasia-scid syndrome achondroplasia-severe combined immunodeficiency syndrome achondroplasia-swiss type agammaglobulinemia syndrome immunodeficiency, short limb dwarfism syndrome immunodeficiency-short limb dwarfism syndrome short limb skeletal dysplasia with scid Short-limb skeletal dysplasia with severe combined immunodeficiency imperforate oropharynx, costovertebral anomalies syndrome seghers syndrome Imperforate oropharynx-costo vertebral anomalies syndrome late-onset localized jeb-intellectual disability syndrome Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome hi syndrome hmi - hypomelanosis of ito incontinentia pigmenti achromians syndrome incontinentia pigmenti achromicans of ito incontinentia pigmenti type 1 nevus fusoceruleus acromiodeltoideus pigmentary mosaicism, ito type Ito hypomelanosis early-onset progressive encephalopathy with migrant continuous myoclonus Infant epilepsy with migrant focal crisis congenital generalized fibromatosis imf infantile hemangiopericytoma multicentric myofibromatosis myofibromatosis Infantile myofibromatosis AMS ablepharon-macrostomia syndrome Ablepharon macrostomia syndrome infantile spasm and broad thumb syndrome infantile spasms, broad thumbs syndrome tsao-ellingson syndrome Infantile spasms-broad thumbs syndrome infundibulopelvic stenosis multicystic kidney syndrome Infundibulopelvic stenosis-multicystic kidney syndrome autosomal recessive hereditary sensory neuropathy cip-anhidrosis syndrome congenital insensitivity to pain, anhidrosis and mental retardation congenital insensitivity to pain-anhidrosis syndrome congenital sensory neuropathy with anhidrosis familial dysautonomia, type ii hereditary sensory and autonomic neuropathy caused by mutation in ntrk1 hereditary sensory and autonomic neuropathy type 4 hereditary sensory and autonomic neuropathy, type iv hereditary sensory neuropathy type iv hsan type iv hsan4 insensitivity to pain, congenital, with anhidrosis ntrk1 hereditary sensory and autonomic neuropathy swanson-buchanan-alvord neuropathy syndrome Hereditary insensitivity to pain with anhidrosis mva syndrome warburton-anyane-yeboa syndrome Mosaic variegated aneuploidy syndrome hereditary benign acanthosis nigricans with insulin resistance insulin receptor defect with insulin-resistant diabetes mellitus and acanthosis nigricans insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism insulin-resistance syndrome type a insulin-resistant acanthosis nigricans type a type a insulin resistance type a insulin resistance syndrome Insulin-resistant diabetes mellitus AND acanthosis nigricans insulin resistance - type b Insulin-resistance syndrome type b elevated serum levels of free thyroid hormone with nonsuppressed tsh end-organ unresponsiveness to thyroid hormone general resistance to thyrotropin grth impaired sensitivity to thyroid hormone resistance to thyroid hormone syndrome of reduced sensitivity to thyroid hormone thyroid hormone receptor beta thyroid hormone receptor defect Generalized resistance to thyroid hormone beta cell neoplasm beta cell tumour beta cell tumour of pancreas beta cell tumour of the pancreas insulin-producing islet cell tumour insulin-producing tumour of islet cells insulin-producing tumour of the islet cells insulinoma pancreatic beta cell tumour pancreatic insulin producing tumour pancreatic insulin-producing tumor pancreatic insulin-producing tumour Pancreatic insulin-producing neuroendocrine tumor agenesis of internal carotid artery internal carotid absence Internal carotid agenesis multiple gastrointestinal atresias Multiple intestinal atresia congenital short bowel syndrome, X-linked recessive intestinal pseudoobstruction, neuronal, X-linked recessive Intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked autosomal recessive severe congenital neutropenia type 3 infantile agranulocytosis neutropenia, severe congenital 3, autosomal recessive severe congenital neutropenia type 3 Kostmann syndrome arteriovenous malformation of the brain, somatic arteriovenous malformations arteriovenous malformations of the brain avm - cerebral arteriovenous malformation cerebral av malformation congenital cerebral arteriovenous malformation intracranial arteriovenous malformation intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation Cerebral arteriovenous malformation congenital deficiency of intrinsic factor congenital intrinsic factor deficiency congenital pernicious anaemia congenital pernicious anemia gastric intrinsic factor deficiency hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency ifd Hereditary intrinsic factor deficiency irid2 iridogoniodysgenesis caused by mutation in pitx2 iridogoniodysgenesis, type 2 iris hypoplasia pitx2 iridogoniodysgenesis Anterior segment dysgenesis 4 Jeune syndrome situs inversus ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension ischiopatellar dysplasia patella aplasia, coxa vara, and tarsal synostosis scott taor syndrome scott-taor syndrome small patella syndrome Coxopodopatellar syndrome Cystoisospora belli caused disease or disorder Cystoisospora belli disease or disorder Cystoisospora belli infectious disease Isosporosis cystoisosporiasis Isosporiasis BLAUS EOS Jabs syndrome arthrocutaneouveal granulomatosis early-onset sarcoidosis granulomatosis, familial juvenile systemic granulomatosis, familial, Blau type granulomatous inflammatory arthritis, dermatitis, and uveitis, familial paediatric granulomatous arthritis sarcoidosis, early-onset Blau syndrome ceroid lipofuscinosis, neuronal, type 2 classic late infantile ncl classic late infantile neuronal ceroid lipofuscinosis cln2 jansky-bielschowsky disease neuronal ceroid lipofuscinosis, late infantile neuronal ceroid lipofuscinosis 2 variable age at onset neuronal ceroid lipofuscinosis caused by mutation in tpp1 neuronal ceroid lipofuscinosis type 2 tpp1 neuronal ceroid lipofuscinosis tpp1-related neuronal ceroid-lipofuscinosis Neuronal ceroid lipofuscinosis 2 kozlowski spondylometaphyseal dysplasia spondylometaphyseal dysplasia kozlowski type Spondylometaphyseal dysplasia, kozlowski type cardio-auditory syndrome jervell and lange-nielson syndrome jervell lange-nielsen syndrome jervell-lange nielsen syndrome jlns long qt interval-deafness syndrome long qt interval-hearing loss syndrome Jervell and Lange-Nielsen syndrome asphyxiating thoracic dystrophy of the newborn atd1 jatd jeune asphyxiating thoracic dystrophy jeune thoracic dysplasia short-rib thoracic dysplasia short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy Jeune thoracic dystrophy conductive deafness, ptosis, skeletal anomalies syndrome conductive hearing loss-ptosis-skeletal anomalies syndrome jackson-barr syndrome Conductive deafness-ptosis-skeletal anomalies syndrome aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome johnson-munson syndrome Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome arthrogryposis hyperkeratosis syndrome lethal form johnston-aarons-schelley syndrome Arthrogryposis-hyperkeratosis syndrome, lethal form ehlers-danlos syndrome type 11, formerly ehlers-danlos syndrome type xi ehlers-danlos syndrome, type 11 familial articular hypermobility syndrome familial generalized articular hypermobility familial joint instability syndrome familial joint laxity joint instability syndrome joint laxity, familial Ehlers-Danlos syndrome, familial joint laxity type Jones hersh yusk syndrome gingival fibromatosis with progressive deafness gingival fibromatosis with progressive deafness syndrome gingival fibromatosis-progressive hearing loss syndrome jones syndrome Gingival fibromatosis-progressive deafness syndrome arthropathy-camptodactyly syndrome cacp cacp (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome cacp syndrome camptodactyly, arthropathy, coxa-vara, pericarditis syndrome camptodactyly-arthropathy-pericarditis syndrome congenital familial hypertrophic synovitis familial fibrosing serositis jacobs syndrome pac syndrome pericarditis, arthropathy, camptodactyly syndrome pericarditis-arthropathy-camptodactyly syndrome Camptodactyly-arthropathy-coxa vara-pericarditis syndrome cleft lip/palate-abnormal thumbs-microcephaly syndrome juberg hayward syndrome orocraniodigital syndrome Juberg-hayward syndrome Judge Misch wright syndrome jung syndrome Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis jip jps juvenile gastrointestinal polyposis juvenile intestinal polyposis juvenile polyposis of intestine polyposis, juvenile intestinal Juvenile polyposis syndrome hjmd hypotrichosis with cone-rod dystrophy hypotrichosis with juvenile macular dystrophy Congenital hypotrichosis with juvenile macular dystrophy JTA non-giant cell granulomatous temporal arteritis with eosinophilia Juvenile temporal arteritis 11q terminal deletion syndrome del(11)(q23.3) del(11)(qter) distal deletion 11q distal monosomy 11q distal partial deletion of long arm of chromosome 11 jacobsen distal 11q deletion syndrome jacobsen syndrome, isolated cases monosomy 11qter telomeric deletion 11q 11q partial monosomy syndrome fgfr1 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 2 with or without anosmia, susceptibility to hypogonadotropic hypogonadism 2 without anosmia hypogonadotropic hypogonadism 2 without anosmia, susceptibility to hypogonadotropic hypogonadism caused by mutation in fgfr1 Hypogonadotropic hypogonadism 2 with or without anosmia anos1 hypogonadotropic hypogonadism hypogonadotropic hypogonadism 1 with anosmia hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1) hypogonadotropic hypogonadism 1 with or without anosmia (kallmann syndrome 1), x-linked recessive hypogonadotropic hypogonadism caused by mutation in anos1 Hypogonadotropic hypogonadism 1 with or without anosmia hypogonadotropic hypogonadism 3 with anosmia hypogonadotropic hypogonadism caused by mutation in prokr2 prokr2 hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 3 with or without anosmia kantaputra mesomelic dysplasia mesomelic dysplasia, thai type Mesomelic dysplasia, kantaputra type Kaplan-Plauchu-Fitch syndrome Acrocraniofacial dysostosis Kaposiform hemangioendothelioma cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome Kapur-toriello syndrome blepharophimosis-ptosis-intellectual disability syndrome bpids oculocerebrofacial syndrome kaufman type Oculocerebrofacial syndrome, kaufman type pagod (pulmonary hypoplasia, hypoplasia pulmonary artery, agonadism, omphalocele, dextrocardia) syndrome pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome Pagod syndrome hereditary keratitis keratitis, autosomal dominant Autosomal dominant keratitis familial primary self-healing squamous epithelioma of the skin, ferguson-smith type ferguson-smith disease ferguson-smith syndrome ferguson-smith tumour msse multiple keratoacanthoma, ferguson-smith type multiple self-healing epithelioma of ferguson-smith self-healing squamous epithelioma type 1 Multiple self-healing squamous epithelioma keratoderma hereditarium mutilans mutilating keratoderma of vohwinkel mutilating keratoderma plus deafness mutilating keratoderma plus hearing loss ppk mutilans and deafness ppk mutilans and hearing loss vohwinkel syndrome vohwinkel's mutilating keratoderma Mutilating keratoderma palmoplantar hyperkeratosis-deafness syndrome palmoplantar hyperkeratosis-hearing loss syndrome palmoplantar keratoderma with deafness syndrome palmoplantar keratoderma-hearing loss syndrome ppk-deafness syndrome Palmoplantar keratoderma-deafness syndrome palmoplantar hyperkeratosis-spastic paralysis syndrome palmoplantar keratoderma, spastic paralysis syndrome powell venencie gordon syndrome powell-venencie-gordon syndrome Palmoplantar keratoderma-spastic paralysis syndrome Greither disease keratosis extremitatum hereditaria progrediens keratosis palmoplantaris transgrediens et progrediens progressive diffuse PPK progressive diffuse palmoplantar keratoderma transgrediens et progrediens PPK Transgrediens et progrediens palmoplantar keratoderma focal palmoplantar and gingival hyperkeratosis Focal palmoplantar and gingival keratoderma Keratosis follicularis-dwarfism-cerebral atrophy syndrome choroiditis, serpiginous geographic helicoid peripapillary choroidopathy serpiginous choroidal dystrophy Serpiginous choroiditis chime (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome congenital disorder of glycosylation due to pigl deficiency neuroectodermal dysplasia chime type neuroectodermal dysplasia, chime type neuroectodermal syndrome, zunich type pigl-cdg zunich kaye syndrome zunich-kaye syndrome Chime syndrome juvenile periodontosis with hyperkeratosis keratosis palmoplantar-periodontopathy syndrome papillon lefevre syndrome papillon lefèvre syndrome papillon-lefvre syndrome Papillon-Lefèvre syndrome Bennion-Patterson syndrome Howell-Evans syndrome keratosis palmoplantaris-esophageal carcinoma syndrome palmoplantar hyperkeratosis-esophageal carcinoma syndrome tylosis-oesophageal carcinoma syndrome Palmoplantar keratoderma-esophageal carcinoma syndrome buschke fischer brauer syndrome buschke-fischer-brauer syndrome keratodermia palmoplantaris papulosa buschke fischer brauer type keratodermia palmoplantaris papulosa, buschke-fischer-brauer type ppkp1 Punctate palmoplantar keratoderma type 1 deficiency of tyrosine aminotransferase hereditary hypertyrosinemia, type ii hypertyrosinemia, oregon type hypertyrosinemia, richner-hanhart type keratosis palmoplantaris-corneal dystrophy syndrome oculocutaneous tyrosinemia persistent hypertyrosinemia richner syndrome richner-hanhart syndrome tat-gene related hypertyrosinemia richner hanhart type tyrosinemia due to tat deficiency tyrosinemia due to tyrosine aminotransferase deficiency tyrosinemia without hepatorenal dysfunction Tyrosinemia type ii kerion suppurative dermatophytosis suppurative ringworm tinea kerion Kerion celsi alcl anaplastic large cell lymphoma (alcl) cd30+ anaplastic large cell lymphoma cd30 positive anaplastic large cell lymphoma, cd30+ anaplastic large cell lymphoma, t cell and null cell type anaplastic large-cell lymphoma ki-1 lymphoma ki-1 positive anaplastic large cell lymphoma ki-1+ alcl ki-1+ anaplastic large cell lymphoma large cell (ki-1 positive) lymphoma large cell anaplastic lymphoma t cell and null cell type primary systemic alcl sacl Anaplastic large cell lymphoma ichthyosis hystrix rheydt type keratitis ichthyosis deafness syndrome keratitis, ichthyosis, deafness/hystrix-like ichthyosis deafness syndrome keratitis-ichthyosis-deafness syndrome keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome keratitis-ichthyosis-hearing loss/hystrix-like ichthyosis-hearing loss syndrome kid syndrome kid/hid syndrome kids - keratitis ichthyosis and deafness syndrome senter syndrome Keratitis ichthyosis and deafness syndrome clover leaf skull deformity isolated cloverleaf skull syndrome kleeblattschadel deformity Cloverleaf skull syndrome Kleine-levin syndrome hallux varus, preaxial polysyndactyly syndrome kleiner-holmes syndrome Hallux varus-preaxial polysyndactyly syndrome acral dysostosis with facial and genital abnormalities drs1 fetal face syndrome foetal face syndrome mesomelic dwarfism-small genitalia syndrome robinow dwarfism robinow silverman smith syndrome robinow-silverman-smith syndrome Robinow syndrome angio-osteohypertrophic syndrome angioosteohypertrophy syndrome haemangiectatic hypertrophy klippel trenaunay syndrome klippel-trenaunay syndrome klippel-trenaunay-weber syndrome, isolated cases klippel-trénaunay syndrome klippel-trénaunay-weber syndrome weber-klippel-trenaunay Angioosteohypertrophic syndrome klumpke-déjerine brachial plexus injury klumpke-déjerine paralysis Klumpke-Déjerine paralysis Lethal kniest-like dysplasia bart-pumphrey syndrome knuckle pads, leukonychia, and sensorineural deafness knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome Knuckle pads, deafness AND leukonychia syndrome dunnigan syndrome familial lipodystrophy of limbs and lower trunk familial partial lipodystrophy dunnigan type fpld2 partial lipodystrophy, dunnigan reverse partial lipodystrophy Familial partial lipodystrophy, dunnigan type epilepsy, dementia and amelogenesis imperfecta epilepsy, mental deterioration and yellow teeth epilepsy-dementia-amelogenesis imperfecta syndrome kohlschutter's syndrome kohlschütter-tönz syndrome Amelocerebrohypohidrotic syndrome Kok disease Stiff baby syndrome congenital stiff man syndrome familial startle disease hereditary hyperexplexia startle disease Hereditary hyperekplexia Kotzot-Richter syndrome hyperlysinemia type ii hyperlysinemia, type ii Saccharopinuria intellectual disability, polydactyly, uncombable hair syndrome kozlowski krajewska syndrome kozlowski-krajewska syndrome Intellectual disability-polydactyly-uncombable hair syndrome Kuskokwim disease Arthrogryposis-like syndrome Kuster syndrome glycogen storage disease type xi glycogenosis due to lactate dehydrogenase deficiency gsd due to lactate dehydrogenase deficiency ldh deficiency Glycogen storage disease due to lactate dehydrogenase deficiency GSD due to lactate dehydrogenase M-subunit deficiency LDH-M subunit deficiency LDHA glycogen storage disease glycogen storage disease caused by mutation in LDHA glycogenosis due to lactate dehydrogenase M-subunit deficiency lactate dehydrogenase A deficiency Glycogen storage disease due to lactate dehydrogenase m-subunit deficiency GSD due to lactate dehydrogenase H-subunit deficiency LDH-H subunit deficiency glycogenosis due to lactate dehydrogenase H-subunit deficiency lactate dehydrogenase B deficiency lactate dehydrogenase-B deficiency Glycogen storage disease due to lactate dehydrogenase h-subunit deficiency fatal infantile lactic acidosis mitochondrial dna depletion syndrome caused by mutation in suclg1 mitochondrial dna depletion syndrome type 9 suclg1 mitochondrial dna depletion syndrome suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form, with mild methylmalonic aciduria Mitochondrial DNA depletion syndrome 9 branchial dysplasia, intellectual disability, inguinal hernia syndrome branchial dysplasia-intellectual disability-inguinal hernia syndrome Lambert syndrome Sacral hemangiomas multiple congenital abnormalities arci1 autosomal recessive congenital ichthyosis type 1 ichthyosis congenita ii ichthyosis, congenital, autosomal recessive 1, with or without bathing suit distribution ichthyosis, congenital, autosomal recessive type 1 Autosomal recessive congenital ichthyosis 1 centroblastic diffuse large b-cell malignant lymphoma centroblastic diffuse malignant lymphoma centroblastic malignant lymphoma diffuse large b cell lymphoma diffuse large b cell malignant lymphoma diffuse large b-cell malignant lymphoma diffuse large cleaved cell malignant lymphoma diffuse large noncleaved cell malignant lymphoma diffuse malignant lymphoma - histiocytic diffuse malignant lymphoma - large cell diffuse non-hodgkin lymphoma, large cell diffuse non-hodgkin's lymphoma, large cell dlbcl dlbcl - diffuse large b cell lymphoma histiocytic diffuse malignant lymphoma histiocytic malignant lymphoma large b-cell malignant lymphoma large cell malignant lymphoma large cleaved cell and noncleaved cell malignant lymphoma large cleaved cell malignant lymphoma large noncleaved cell malignant lymphoma lymphoma, diffuse large b cell, non hodgkins malignant lymphoma - large cell cleaved and non-cleaved noncleaved malignant lymphoma Malignant lymphoma, large B-cell, diffuse Lethal larsen-like syndrome LC LTEC Larnygeotracheoesophageal cleft congenital cleft larynx laryngeal cleft laryngo-tracheo-esophageal cleft laryngo-tracheo-esophageal diastema tracheal cleft Laryngotracheoesophageal cleft Sacrococcygeal teratoma congenital laryngocele Laryngocele atresia of larynx congenital atresia of larynx Laryngeal atresia graham little piccardi lassueur syndrome graham little syndrome picardi-lassueur-little syndrome piccardi lassueur little syndrome piccardi-lassueur-little syndrome Graham Little-Piccardi-Lassueur syndrome retinal cone dystrophy-1 Retinal cone dystrophy type 1 Laterality defects, autosomal dominant fibulo-ulnar hypoplasia and renal anomalies syndrome fibuloulnar hypoplasia with renal abnormalities saito-kuba-tsuruta syndrome Fibulo-ulnar hypoplasia-renal anomalies syndrome early onset parkinsonism and intellectual disability syndrome laxova opitz syndrome laxova-opitz syndrome waisman syndrome, x-linked recessive Early-onset parkinsonism-intellectual disability syndrome focal segmental glomerulosclerosis 10 nail patella-like renal disease salcedo syndrome Nail-patella-like renal disease BOFS BOFS syndrome Bof syndrome Branchio Oculo Facial Syndrome branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging branchio-oculo-facial syndrome hemangiomatous branchial clefts-Lip Pseudocleft syndrome lip Pseudocleft-Hemangiomatous branchial cyst syndrome Branchiooculofacial syndrome loken senior syndrome nephronophthisis with retinal dystrophy renal dysplasia-retinal aplasia syndrome renal-retinal syndrome Renal dysplasia and retinal aplasia lenz-majewski dysplasia lenz-majewski hyperostotic dwarfism Lenz-Majewski hyperostosis syndrome leri weill dyschondrosteosis leri-weill dyschondrosteosis, pseudoautosomal dominant leri-weill dyschondrostosis leri-weill syndrome lwd léri-weill dyschondrosteosis léri-weill syndrome shox-related haploinsufficiency disorders Leri-weill dyschondrosteosis Lethal chondrodysplasia, Seller type gle1 lethal congenital contracture syndrome herva disease lccs1 lethal congenital contracture syndrome caused by mutation in gle1 lethal congenital contracture syndrome type 1 multiple contracture syndrome finnish type multiple contracture syndrome, finnish type Lethal congenital contracture syndrome 1 bckd - branched-chain 2-ketoacid dehydrogenase deficiency bckd deficiency bckdh deficiency branched chain ketoacid dehydrogenase deficiency branched chain ketoaciduria branched-chain 2-ketoacid dehydrogenase deficiency branched-chain ketoaciduria ketoacid decarboxylase deficiency ketoacidaemia ketoacidemia msud msud - maple syrup urine disease oxo-acid decarboxylase deficiency Maple syrup urine disease arsa deficiency arylsulfatase a deficiency cerebral sclerosis diffuse metachromatic form cerebroside sulfatase deficiency deficiency of cerebroside-sulfatase familial progressive cerebral sclerosis metachromatic leucodystrophy metachromatic leukoencephalopathy metachromatic leukoencephaly mld mld - metachromatic leucodystrophy sulfatide lipidosis sulfatide lipoidosis van bogaert-nijssen disease Metachromatic leukodystrophy Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome progressive encephalopathy with severe infantile anorexia Ravine syndrome leukoencephalopathy, palmoplantar keratoderma syndrome Leukoencephalopathy-palmoplantar keratoderma syndrome Levic-Stefanovic-Nikolic syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome hypogonadotropic hypogonadism with frontoparietal alopecia syndrome salti salem syndrome salti-salem syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome popliteal pterygium syndrome 1 popliteal pterygium syndrome, autosomal dominant popliteal web syndrome Autosomal dominant popliteal pterygium syndrome 46,xy disorder of sex development due to lh resistance or lhb deficiency 46,xy disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,xy dsd due to lh resistance or lhb deficiency 46,xy dsd due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency hypoplasia of the leydig cells leydig cells hypoplasia male pseudohermaphroditism due to lh resistance or lhb deficiency male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency Leydig cell hypoplasia LPP follicular lichen planus lichen follicularis lichen planus follicularis Lichen planopilaris Lichtenstein syndrome Iida Kannari syndrome fetal blood loss from fetal hemorrhage into co-twin fetal hemorrhage into co-twin feto-fetal transfusion syndrome fetofetal transfusion ffts - fetofetal transfusion syndrome foetal blood loss from foetal haemorrhage into co-twin foetal haemorrhage into co-twin ttts - twin to twin transfusion syndrome twin anemia polycythemia sequence twin to twin transfusion twin to twin transfusion syndrome twin twin transfusion syndrome twin-to-twin blood transfer twin-to-twin transfusion syndrome Twin-to-twin transfusion lbwc (limb body wall complex) syndrome lbwc syndrome Limb body wall complex 10q24 microduplication syndrome buttiens-fryns syndrome distal limb deficiencies with micrognathia shfm3 split hand-foot malformation type 3 split-hand/foot malformation 3, gene duplication syndrome Split hand-foot malformation 3 linear hamartoma syndrome Linear verrucous nevus syndrome lipidosis with triglyceride storage disease Neutral lipid storage disease congenital infantile lactic acidosis due to lad deficiency cytochrome-b reductase deficiency deficiency of diaphorase deficiency of dihydrolipoamide dehydrogenase deficiency of lipoamide reductase (nadh) diaphorase deficiency dihydrolipoamide dehydrogenase (e3) deficiency dihydrolipoamide dehydrogenase deficiency dihydrolipoamide dehydrogenase e3 deficiency dihydrolipoyl dehydrogenase deficiency dld - dihydrolipoamide dehydrogenase deficiency e3-deficient maple syrup urine disease lactic acidosis due to lad deficiency lipoamide dehydrogenase deficiency maple syrup urine disease with lactic acidosis Pyruvate dehydrogenase e3 deficiency lipoid proteinosis lipoidosis cutis et mucosae lipoproteinosis urbach-wiethe disease Lipid proteinosis lissencephaly type 2 lissencephaly type ii type 2 lissencephaly type ii lissencephaly Cobblestone lissencephaly lien migrans lien mobilis Wandering spleen eyeworm disease of africa infection by loa loa infection caused by loa loa loa loa infection loasis Loiasis LQT2 Long QT syndrome, acquired, reduced susceptibility to long QT syndrome type 2 Long qt syndrome 2 long qt syndrome caused by mutation in scn5a long qt syndrome type 3 lqt3 scn5a long qt syndrome scn5a-related romano ward syndrome Long qt syndrome 3 loose anagen syndrome Loose anagen hair syndrome familial eosinophilic cellulitis wells syndrome Eosinophilic cellulitis cerebro-oculorenal dystrophy lowe disease lowe oculo-cerebro-renal dystrophy lowe oculo-cerebro-renal syndrome lowe oculocerebrorenal dystrophy lowe oculocerebrorenal syndrome lowe syndrome lowe syndrome, x-linked recessive lowe-bickel syndrome lowe-terrey-maclachlan syndrome ocr ocrl oculo-cerebro-renal dystrophy oculo-cerebro-renal syndrome oculocerebrorenal dystrophy oculocerebrorenal syndrome of lowe phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency renal-oculocerebrodystrophy Oculocerebrorenal syndrome Neonatal pseudo-hydrocephalic progeroid syndrome Lowry-maclean syndrome cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development lubani-al saleh-teebi syndrome Cystic fibrosis-gastritis-megaloblastic anemia syndrome intellectual developmental disorder, x-linked, syndromic, lujan-fryns type lujan syndrome lujan-fryns syndrome, x-linked recessive x-linked mental retardation with marfanoid habitus syndrome X-linked intellectual disability with marfanoid habitus cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia cleidocranial dysplasia-micrognathia-absent thumbs syndrome yunis varon syndrome yunis-varón syndrome Yunis-varon syndrome cerebellar ataxia hypogonadotropic hypogonadism gordon-holmes syndrome luteinizing hormone-releasing hormone deficiency with ataxia progressive cerebellar ataxia with hypogonadism Cerebellar ataxia-hypogonadism syndrome hennekam lymphangiectasia lymphedema syndrome hennekam syndrome lymphedem-lymphangiectasia-intellectual disability syndrome lymphedema, lymphangiectasia, intellectual disability syndrome lymphedema-lymphangiectasia-intellectual disability syndrome Hennekam lymphangiectasia-lymphedema syndrome lam pulmonary lymphangioleiomyomatosis Lung lymphangioleiomyomatosis cutis gyrata, acanthosis nigricans, craniosynostosis syndrome Beare-stevenson cutis gyrata syndrome Bancroftian elephantiasis Bancroftian filarial chyluria elephantiasis of eyelid eyelid elephantiasis Filarial elephantiasis hereditary lymphedema ii hereditary lymphedema type ii late-onset lymphedema late-onset primary lymphedema lmph2 lmphm5 lymphatic malformation 5 lymphedema preacox meige disease meige lymphedema Lymphedema praecox congenital hereditary lymphedema congenital primary lymphedema early onset lymphedema flt4 hereditary lymphedema hereditary lymphedema 1 hereditary lymphedema caused by mutation in flt4 lmph1a lmphm1 lymphatic malformation 1 lymphedema, early-onset lymphedema, hereditary, 1a lymphedema, hereditary, type 1a meige's disease milroy disease milroy lymphedema milroy's disease nonne's syndrome nonne-milroy disease nonne-milroy lymphedema nonne-milroy syndrome nonne-milroy-meige syndrome nonne’s syndrome primary congenital lymphedema Hereditary lymphedema type I convoluted cell type malignant lymphoma lymphoblastoma lymphoma, lymphoblastic, malignant malignant lymphoblastic lymphoma malignant lymphoma, lymphoblastic Lymphoblastic lymphoma distichiasis-lymphedema syndrome Lymphedema-distichiasis syndrome congenital lysinuria dibasic amino aciduria ii hyperdibasic aminoaciduria hyperdibasic aminoaciduria type 2 lpi lpi - lysinuric protein intolerance Lysinuric protein intolerance acropigmentation of dohi Symmetrical dyschromatosis of extremities abnormally large tongue enlargement of tongue glossal hypertrophy hyperplasia of the tongue hypertrophy of the tongue increased size of tongue large tongue lingual hyperplasia lingual hypertrophy tongue hypertrophy Macroglossia beckwith's syndrome bws exomphalos-macroglossia-gigantism syndrome wiedemann-beckwith syndrome Beckwith-wiedemann syndrome hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome westerhof-beemer-cormane syndrome Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome blepharophimosis syndrome, ohdo type blepharophimosis-intellectual disability syndrome, ohdo type bmrs, ohdo type intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth madokoro ohdo sonoda syndrome mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth ohdo syndrome ohdo-madokoro-sonoda syndrome Blepharophimosis - intellectual disability syndrome, Ohdo type familial primary hypomagnesemia caused by mutation in fxyd2 fxyd2 familial primary hypomagnesemia fxyd2 primary hypomagnesemia homg2 homg2 - renal hypomagnesemia type 2 isolated autosomal dominant hypomagnesemia isolated renal magnesium wasting primary hypomagnesemia caused by mutation in fxyd2 renal hypomagnesemia type 2 Renal hypomagnesemia 2 Male pseudohermaphroditism due to defective lh molecule autosomal recessive complex spastic paraplegia caused by mutation in dstyk dstyk autosomal recessive complex spastic paraplegia hereditary spastic paraplegia type 23 lison syndrome spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome spastic paraplegia 23 spastic paraplegia with pigmentary abnormalities spg23 Hereditary spastic paraplegia 23 cancer of germ cell germ cell cancer germ cell tumor, malignant malignant tumour of germ cell malignant tumour of the germ cell Malignant germ cell tumor froster-Iskenius-Waterson-Hall syndrome malignant hyperthermia-arthrogryposis-torticollis syndrome Multiple pterygium-malignant hyperthermia syndrome deficiency of malonyl-coa decarboxylase deficiency of malonyl-coenzyme a decarboxylase malonyl-coa decarboxylase deficiency mlycd-gene related malonic aciduria Malonic aciduria Malouf syndrome Najjar syndrome cardiogenital syndrome Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome mandibuloacral dysostosis co-occurrent with type a lipodystrophy Mandibuloacral dysplasia with type a lipodystrophy Mardini-Nyhan syndrome Lung agenesis-heart defect-thumb anomalies syndrome Zerres Rietschel Majewski syndrome Marden-Walker-like syndrome VDEGS Van den ende-gupta syndrome fragoso-cantú syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome hr hypotrichosis hypotrichosis caused by mutation in hr hypotrichosis, marie unna type marie unna congenital hypotrichosis marie unna hereditary hypotrichosis muhh Marie Unna syndrome marles syndrome marles-greenberg-persaud syndrome marles-greenburg-persaud syndrome mota - manitoba oculotrichoanal syndrome mota syndrome Oculotrichoanal syndrome Osteocraniosplenic syndrome gracile bone dysplasia Osteocraniostenosis chondrodysplasia lethal recessive maroteaux stanescu cousin syndrome maroteaux-stanescu-cousin syndrome Lethal recessive chondrodysplasia marfanoid syndrome, De Silva type Diverticulosis of bowel, hernia, and retinal detachment cataract-intellectual disability-hypogonadism syndrome Martsolf syndrome 1 Massa casaer ceulemans syndrome mastocytosis-short stature-deafness syndrome mastocytosis-short stature-hearing loss syndrome Hennekam-Beemer syndrome azoospermia, obstructive and chronic sinopulmonary infections azoospermia-sinopulmonary infections syndrome cild55 ciliary dyskinesia, primary, 55 young's syndrome Young syndrome hyperphenylalaninemic embryopathy maternal hyperphenylalaninemia maternal pku maternal pku (phenylketonuria) pah-gene related maternal phenylketonuria phenylketonuric embryopathy Maternal phenylketonuria Mcdonough syndrome scaphocephaly, maxillary retrusion, and impaired intellectual development scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome Familial scaphocephaly syndrome, mcgillivray type Kaufman-Mckusick syndrome hydrometrocolpos-postaxial polydactyly syndrome Mckusick-kaufman syndrome congenital pontocerebellar hypoplasia type 4 fatal infantile encephalopathy with olivopontocerebellar hypoplasia olivopontocerebellar hypoplasia pch4 pch4 - pontocerebellar hypoplasia type 4 tsen54-related pontocerebellar hypoplasia Pontocerebellar hypoplasia type 4 cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome mcpherson-clemens syndrome Cleft lip/palate-intestinal malrotation-cardiopathy syndrome Meacham-Winn-Culler syndrome Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome Meacham syndrome dysencephalia splachnocystica dysencephalia splanchnocystica gruber syndrome Meckel-Gruber syndrome dysraphism, cleft lip and palate, limb reduction defect syndrome medeira dennis donnai syndrome medeira-dennis-donnai syndrome Dysraphism-cleft lip/palate-limb reduction defects syndrome median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome Pai syndrome holoprosencephaly and postaxial polydactyly syndrome pseudo-trisomy 13 syndrome Holoprosencephaly-postaxial polydactyly syndrome median nodule of upper lip Median nodule of the upper lip familial hollow visceral myopathy familial visceral myopathy hereditary hollow visceral myopathy megaduodenum and/or megacystis Hereditary hollow viscus myopathy infantile leukoencephalopathy and megalencephaly leukoencephalopathy with swelling and cysts megalencephalic leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts type 1 megalencephaly-cystic leukodystrophy syndrome mlc vacuolating leukoencephalopathy vacuolating megalencephalic leukoencephalopathy with subcortical cysts van der knaap disease van der knaap syndrome van der knapp disease Megalencephalic leukoencephalopathy with subcortical cysts megalocornea with intellectual disability syndrome mmr (megalocornea, mental retardation) syndrome mmr syndrome neuhäuser syndrome Megalocornea-intellectual disability syndrome Mehes syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome x-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome young hughes syndrome young-hughes syndrome X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome Mehta lewis patton syndrome bilateral macular coloboma with hypercalciuria familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement fhhnc with severe ocular involvement fhhncoi hypercalciuria-bilateral macular coloboma syndrome hypomagnesemia 5, renal, with or without ocular involvement meier-blumberg-imahorn syndrome primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement Renal hypomagnesemia 5 with ocular involvement cerebellar hypoplasia with pancytopenia hhs progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome Hoyeraal-Hreidarsson syndrome hereditary melanoma (disease) Familial melanoma Melhem-Fahl syndrome pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome yorifuji-okuno syndrome Pancreatic hypoplasia-diabetes-congenital heart disease syndrome hydromeningomyelocele hydromyelomeningocele Myelomeningocele embryonal carcinoma, infantile endodermal sinus tumour hepatoid yolk sac tumor hepatoid yolk sac tumour orchioblastoma polyvesicular vitelline tumor yolk sac tumor site unspecified yolk sac tumor, malignant yolk sac tumour Yolk sac tumor cerebro-oculo-nasal syndrome Cerebrooculonasal syndrome severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome intellectual developmental disorder, buenos aires type mutchinick syndrome Intellectual disability, buenos-aires type Neuroaxonal dystrophy renal tubular acidosis hernandez aguirre negrete syndrome intellectual disability, epilepsy, bulbous nose syndrome intellectual disability-epilepsy-bulbous nose syndrome Hernández-Aguirre Negrete syndrome 18p isochromosome 18p tetrasomy isochromosome 18p tetrasomy type 18p Tetrasomy 18p gurrieri sammito bellussi syndrome gurrieri-sammito-bellussi syndrome skeletal dysplasia with epilepsy and short stature syndrome Skeletal dysplasia-epilepsy-short stature syndrome autosomal dominant intellectual disability 19 ctnnb1 syndrome intellectual disability, autosomal dominant type 19 mrd19 nedsdv Severe intellectual disability-progressive spastic diplegia syndrome intellectual developmental disorder, x-linked, syndromic 13 intellectual developmental disorder, x-linked, syndromic 13, x-linked recessive intellectual disability with psychosis, pyramidal signs, and macroorchidism intellectual disability, x-linked, syndromic 13 intellectual disability, x-linked, syndromic type 13 lindsay burn syndrome lindsay-burn syndrome mrxs13 ppm-x ppmx - mental retardation with psychosis, pyramidal signs, and macroorchidism x-linked intellectual disability 79 x-linked intellectual disability with spasticity x-linked mental retardation, syndromic 13 X-linked intellectual disability-psychosis-macroorchidism syndrome dacryocystitis and osteopoikilosis syndrome Dacryocystitis-osteopoikilosis syndrome Stoll-Géraudel-Chauvin syndrome intellectual disability, short stature, hypertelorism syndrome stoll geraudel chauvin syndrome Intellectual disability-short stature-hypertelorism syndrome wedge-shaped epiphyses of knees Metaphyseal acroscyphodysplasia christian syndrome chrs impaired intellectual development, skeletal dysplasia, and abducens palsy mental retardation-skeletal dysplasia skeletal dysplasia with intellectual disability syndrome Skeletal dysplasia-intellectual disability syndrome Carpenter-Waziri syndrome Chudley Lowry Hoar syndrome Chudley-Lowry syndrome Chudley-Lowry-Hoar syndrome Holmes-Gang syndrome SFMS Smith-Fineman-Myers syndrome X-linked intellectual disability-hypotonic face syndrome XLMR-hypotonic facies syndrome intellectual disability-hypotonic facies syndrome, X-linked, type 1 Intellectual disability-hypotonic facies syndrome, x-linked, 1 Jancar syndrome Intellectual disability-spasticity-ectrodactyly syndrome intellectual disability, Mietens-Weber type Mietens syndrome Kozlowski Warren Fisher syndrome intellectual disability wolff type wolff zimmermann syndrome wolff-zimmermann syndrome Intellectual disability, wolff type antisocial behavior, x-linked recessive brunner syndrome, x-linked recessive deficiency of monoamine oxidase a monoamine oxidase a deficiency Brunner syndrome atkin flaitz syndrome x-linked intellectual disability atkin type x-linked intellectual disability, atkin type x-linked mental retardation syndrome, atkin type Atkin-flaitz syndrome kaler-garrity-stern syndrome osteopenia, intellectual disability, sparse hair syndrome Osteopenia-intellectual disability-sparse hair syndrome kozlowski-reardon mesomelic displasia mesomelic dysplasia, kozlowski-reardon type mesomelic dysplasia, reardon type reardon-hall-slaney syndrome Mesomelic dwarfism-cleft palate-camptodactyly syndrome homozygous dyschondrosteosis homozygous leri-weill dyschondrosteosis syndrome langer mesomelic dwarfism langer mesomelic dysplasia, pseudoautosomal recessive langer syndrome langer type mesomelic dysplasia mesomelic dwarfism, langer type mesomelic dysplasia - langer type Langer mesomelic dysplasia syndrome mesomelic dysplasia - nievergelt type nievergelt syndrome nievergelt's syndrome nievergelt-erb syndrome Mesomelic dwarfism, nievergelt type mesomelic dwarfism reinhardt-pfeiffer type mesomelic dysplasia of hypoplastic ulna and fibula type reinhardt pfeiffer mesomelic dysplasia reinhardt pfeiffer syndrome reinhardt-pfeiffer mesomelic dysplasia reinhardt-pfeiffer syndrome Mesomelic dwarfism, reinhardt-pfeiffer type fgf16 non-syndromic syndactyly fusion of metacarpal 4 and 5 fusion of metacarpals 4 and 5 metacarpal 4-5 fusion, x-linked recessive non-syndromic syndactyly caused by mutation in fgf16 syndactyly of fingers type 8 Syndactyly type 8 Metachondromatosis Maroteaux-Verloes-Stanescu syndrome regressive metaphyseal dysplasia Metaphyseal anadysplasia Metaphyseal chondrodysplasia, spahr type metaphyseal dysostosis, impaired intellectual development, and conductive deafness metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly metaphyseal dysplasia with maxillary hypoplasia and brachydactyly Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome metatropic dwarf metatropic dwarfism metatropic dwarfism syndrome metatropic dysplasia group metatropic dysplasia i mtd Metatropic dysplasia fetal methyl mercury syndrome foetal methyl mercury syndrome foetal methylmercury syndrome methyl mercury antenatal infection Fetal methylmercury syndrome functional methionine synthase deficiency type cblg homocystinuria-megaloblastic anemia, cblg type Methylcobalamin deficiency type cblg combined defect in adenosylcobalamin and methylcobalamin synthesis methylmalonic acidemia with homocystinuria methylmalonic aciduria with homocystinuria Methylmalonic aciduria and homocystinuria W syndrome Pallister-W syndrome mamm methylmalonic acidemia due to methylmalonyl-coa mutase deficiency methylmalonic aciduria mut type methylmalonyl-coa mutase deficiency methylmalonyl-coenzyme a mutase deficiency mut-related methylmalonic acidemia vitamin b12-unresponsive methylmalonic aciduria Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency HIDS MKD MVA complete mevalonate kinase deficiency hyperimmunoglobulin D with periodic fever syndrome Mevalonic aciduria ccsf circumferential skin creases, kunze type congenital circumferential skin folds cscsc kunze-riehm syndrome lipomatous hypertrophy multiple benign circumferential skin creases on limbs Michelin-tire baby ced cranioectoderma levin syndrome sensenbrenner's syndrome Cranioectodermal dysplasia Richieri Costa-Guion Almeida-Ramos syndrome Microbrachycephaly-ptosis-cleft lip syndrome abers abruzzo erickson syndrome charge-like syndrome cleft palate with coloboma of eye and deafness syndrome cleft palate-coloboma-deafness syndrome cleft palate-coloboma-hearing loss syndrome Abruzzo-erickson syndrome microcephalic primordial dwarfism of toriello type Microcephalic primordial dwarfism, toriello type microcephaly, primary primary microcephaly true microcephaly Isolated congenital microcephaly castro gago pombo novo syndrome castro gago-pombo-novo syndrome microcephalus with albinism and digital anomaly syndrome microcephaly with albinism and digital anomaly syndrome Microcephaly-albinism-digital anomalies syndrome microcephaly (disease), autosomal dominant Autosomal dominant primary microcephaly franek bocker kahlen syndrome franek-bocker-kahlen syndrome microcephalus, brain defect, spasticity, hypernatremia syndrome Microcephaly-brain defect-spasticity-hypernatremia syndrome microcephaly cardiomyopathy microcephaly cardiomyopathy syndrome microcephaly-cardiomyopathy syndrome winship viljoen leary syndrome winship-viljoen-leary syndrome Microcephalus cardiomyopathy syndrome absent bone maturation of skullcap absent ossification of calvaria absent ossification of skull vault acrania Acalvaria microcephalus co-occurrent with cervical spine fusion anomaly microcephaly with cervical spine fusion anomaly Microcephaly-cervical spine fusion anomalies syndrome Microcephaly and chorioretinopathy Microcephaly-glomerulonephritis-marfanoid habitus syndrome microcephalus, hypergonadotropic hypogonadism, short stature syndrome microcephaly-hypergonadotropic hypogonadism-short stature syndrome mikati najjar sahli syndrome Mikati-Najjar-Sahli syndrome chorioretinal dysplasia-microcephaly-intellectual disability syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos lymphedema, microcephaly and chorioretinopathy syndrome microcephaly lymphedema chorioretinal dysplasia microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development microcephaly, lymphedema, chorioretinal dysplasia syndrome mlcrd Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability microcephalus microcornea syndrome of seemanova type seemanova-lesny syndrome x-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity Microcephaly-microcornea syndrome, seemanova type Microcephaly micropenis convulsions acatalasemia, hungarian type catalase deficiency deficiency of catalase takahara disease Acatalasia microencephaly Isolated microcephaly congenital microcoria Congenital miosis Microcornea-glaucoma-absent frontal sinuses syndrome Microdontia hypodontia short stature absent nose agenesis of nose arhinia arrhinia congenital absence of nose failure of development of nose isolated nose agenesis missing nose nasal underdevelopment nose agenesis underdevelopment of nose Aplasia of the nose Microgastria-limb reduction defect syndrome omodysplasia, autosomal dominant Autosomal dominant omodysplasia MAC colobomatous microphthalmia microphthalmia with colobomatous cyst microphthalmia-anophthalmia-coloboma syndrome Microphthalmia, isolated, with coloboma bakrania ragge syndrome bakrania-ragge syndrome mcops6 microphthalmia with brain and digit anomaly microphthalmia, syndromic type 6 syndromic microphthalmia type 6 Microphthalmia with brain and digit anomalies congenital estrogen deficiency congenital oestrogen deficiency increased aromatase activity maternal virilization due to placental aromatase deficiency Aromatase deficiency microphthalmia, microtia, fetal akinesia syndrome microphthalmia-microtia-fetal akinesia syndrome Microphthalmia microtia fetal akinesia micropolyangiitis mpa mpa - microscopic polyangiitis Microscopic polyangiitis hemifacial microsomia with radial defect syndrome hemifacial microsomia-radial defects syndrome moeschler-clarren syndrome Oculoauriculovertebral spectrum with radial defects infection by microspora infection by microsporea infection by microsporida infection by microsporidia infection caused by microspora infection caused by microsporidia microsporidia caused disease or disorder microsporidia disease or disorder microsporidia infection microsporidia infectious disease Microsporidiosis MCOPS7 MIDAS syndrome MLS syndrome linear skin defects with multiple congenital anomalies type 1 microphthalmia with linear skin defects syndrome microphthalmia-dermal aplasia-sclerocornea syndrome syndromic microphthalmia type 7 Linear skin defects with multiple congenital anomalies Arnold stickler bourne syndrome cranial variant of gbs cranial variant of guillain-barre syndrome cranial variant of guillain-barré syndrome fisher's syndrome guillain barre syndrome, miller fisher variant guillain-barre syndrome, miller fisher variant miller fisher variant of guillain barre syndrome miller-fisher syndrome miller-fisher variant of guillain-barre syndrome ophthalmoplegia, ataxia and areflexia syndrome ophthalmoplegia, ataxia, areflexia syndrome syndrome, fisher syndrome, miller fisher syndrome, miller-fisher Miller Fisher syndrome lissencephaly due to 17p13.3 deletion lissencephaly syndrome, miller-dieker monosomy 17p13.3 telomeric deletion 17p Miller Dieker syndrome maternally inherited infantile subacute necrotizing encephalopathy maternally inherited leigh disease maternally-inherited infantile subacute necrotizing encephalopathy maternally-inherited leigh disease mils mtdna-associated leigh syndrome Maternally-inherited Leigh syndrome anemia, congenital, nonspherocytic hemolytic, 5 anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient cnsha5 hemolytic anaemia due to hexokinase deficiency hemolytic anemia, nonspherocytic, due to hexokinase deficiency non-spherocytic hemolytic anemia due to hexokinase deficiency nonspherocytic hemolytic anaemia due to hexokinase deficiency nonspherocytic hemolytic anemia due to hexokinase deficiency Hemolytic anemia due to hexokinase deficiency epidermolysis bullosa, junctional 2c, laryngoonychocutaneous jeb2c laryngeal and ocular granulation tissue in children from the indian subcontinent syndrome loc syndrome logic syndrome shabbir syndrome Laryngo-onycho-cutaneous syndrome booth haworth dilling syndrome booth-haworth-dilling syndrome mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with methylmalonic aciduria mitochondrial dna depletion syndrome 5 mitochondrial dna depletion syndrome encephalomyopathic form with methylmalonic aciduria mitochondrial dna depletion syndrome type 5 mitochondrial encephalomyopathy aminoacidopathy syndrome mitochondrial encephalomyopathy-aminoacidopathy syndrome mtdna (mitochondrial deoxyribonucleic acid) depletion syndrome encephalomyopathic form with methylmalonic aciduria mtdna depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria mitochondrial myopathy with lactic acidosis mitochondrial myopathy-lactic acidosis-hearing loss syndrome Mitochondrial myopathy-lactic acidosis-deafness syndrome human trifunctional protein deficiency tfp deficiency tfpd trifunctional enzyme deficiency Mitochondrial trifunctional protein deficiency congenital atresia of mitral valve ma - mitral atresia mitral atresia Mitral atresia disorder hereditary mitral valve prolapse (disease) Familial mitral valve prolapse MVP1 ayazi syndrome del(x)(q21) monosomy xq21 xq21 deletion syndrome, x-linked recessive xq21 microdeletion syndrome Choroideremia-deafness-obesity syndrome mixed sclerosing bone dystrophy msbd (mixed sclerosing bone dystrophy) syndrome msbd syndrome Melorheostosis with osteopoikilosis mcops5 microphthalmia, syndromic type 5 otx2 syndromic microphthalmia retinal dystrophy, early-onset, with pituitary dysfunction retinal dystrophy, early-onset, without pituitary dysfunction syndromic microphthalmia caused by mutation in otx2 syndromic microphthalmia due to orthodenticle homeobox 2 mutation syndromic microphthalmia due to otx2 mutation syndromic microphthalmia/anophthalmia due to otx2 mutation Syndromic microphthalmia type 5 mcops8 microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome syndromic microphthalmia type 8 viljoen-smart syndrome MMEP syndrome moebius axonal neuropathy hypogonadism moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome diaphragmatic hernia, abnormal face and distal limb anomalies diaphragmatic hernia-abnormal face-distal limb anomalies syndrome Fryns syndrome partial deletion of chromosome 3p partial deletion of the short arm of chromosome type 3 partial monosomy of chromosome 3p partial monosomy of the short arm of chromosome 3 Partial deletion of the short arm of chromosome 3 cholestatic jaundice with hereditary lymphedema norwegian cholestasis Cholestasis-edema syndrome, Norwegian type ofd ii - orofacial-digital syndrome ii ofd syndrome type ii ofd2 ofds ii oral-facial-digital syndrome type 2 oral-facial-digital syndrome, type ii orofacial-digital syndrome ii orofaciodigital syndrome type ii Mohr syndrome choroidal atrophy and alopecia syndrome moloney syndrome regional choroidal atrophy and alopecia Choroidal atrophy-alopecia syndrome combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase combined xanthine oxidase and aldehyde oxidase deficiency combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency deficiency of molybdenum cofactor hereditary xanthinuria type 2 hereditary xanthinuria, type 2 mocod sulfite oxidase deficiency due to molybdenum cofactor deficiency xanthine oxidase-sulfite oxidase deficiency Combined molybdoflavoprotein enzyme deficiency Sommer-Hines syndrome Tetramelic monodactyly dysharmonic skeletal maturation - muscular fiber disproportion dysharmonic skeletal maturation - muscular fibre disproportion dysharmonic skeletal maturation and muscular fiber disproportion syndrome dysharmonic skeletal maturation-muscular fiber disproportion syndrome dysharmonic skeletal maturation-muscular fibre disproportion syndrome qazi-markouizos syndrome Qazi Markouizos syndrome chromosome 10q26 deletion syndrome distal deletion 10q distal monosomy 10q distal monosomy type 10q monosomy 10qter telomeric deletion 10q Distal 10q deletion syndrome neurofibromatosis noonan syndrome neurofibromatosis type 1 noonan syndrome neurofibromatosis type 1-noonan syndrome nfns nfns - neurofibromatosis noonan syndrome Neurofibromatosis-noonan syndrome partial deletion of chromosome 14q partial deletion of long arm of chromosome 14 partial deletion of the long arm of chromosome type 14 partial monosomy of chromosome 14q partial monosomy of the long arm of chromosome 14 Partial deletion of the long arm of chromosome 14 Chromosome 18 mosaic monosomy folliculitis depilans quinquaud folliculitis decalvans quinquaud's folliculitis decalvans Folliculitis decalvans 1p partial monosomy partial deletion of chromosome 1p partial deletion of the short arm of chromosome type 1 partial monosomy of chromosome 1p partial monosomy of the short arm of chromosome 1 Partial deletion of the short arm of chromosome 1 1q41-q42 microdeletion syndrome 1q41q42 microdeletion syndrome chromosome 1, monosomy 1q4 chromosome 1q41-q42 deletion syndrome, isolated cases del(1)(q41q42) deletion 1q4 monosomy 1q4 monosomy 1q41-q42 monosomy 1q41q42 Chromosome 1q41-q42 deletion syndrome Zori-Stalker-Williams syndrome Pectus excavatum-macrocephaly-dysplastic nails syndrome partial deletion of chromosome 2q partial deletion of the long arm of chromosome type 2 partial monosomy of chromosome 2q partial monosomy of the long arm of chromosome 2 Partial deletion of the long arm of chromosome 2 Del(2)(q24) monosomy 2q24 2q24 microdeletion syndrome cleft lip and cleft palate with ectodermal dysplasia syndrome cleft lip and palate with syndactyly and pili torti cleft lip/palate-syndactyly-pili torti syndrome margarita type of ectodermal dysplasia syndactyly-ectodermal dysplasia-cleft/lip palate zlotogora ogur syndrome zlotogora zilberman tenenbaum syndrome zlotogora-ogur syndrome zlotogora-zilberman-tenenbaum syndrome Cleft lip/palate-ectodermal dysplasia syndrome 3p deletion syndrome 3p syndrome chromosome 3, deletion 3p chromosome 3, monosomy 3p chromosome 3pter-p25 deletion syndrome distal 3p deletion distal monosomy 3p distal monosomy 3p syndrome distal monosomy type 3p monosomy 3pter telomeric monosomy 3p 3p- syndrome acheiropodia agenesis of hands and feet horn-kolb syndrome Acheiropody partial deletion of chromosome 6q partial deletion of the long arm of chromosome type 6 partial monosomy of chromosome 6q partial monosomy of the long arm of chromosome 6 Partial deletion of the long arm of chromosome 6 6q25 microdeletion syndrome Del(6)(q25) chromosome 6q25-q25 deletion syndrome monosomy 6q25 Chromosome 6q24-q25 deletion syndrome partial deletion of chromosome 7q partial deletion of the long arm of chromosome type 7 partial monosomy of chromosome 7q partial monosomy of the long arm of chromosome 7 Partial deletion of the long arm of chromosome 7 partial deletion of chromosome 8p partial deletion of the short arm of chromosome type 8 partial monosomy of chromosome 8p partial monosomy of the short arm of chromosome 8 Partial deletion of the short arm of chromosome 8 Del(8)(p23.1) monosomy 8p23.1 8p23.1 microdeletion syndrome Adactyly of hand, unilateral adactylia unilateral congenital absence/hypoplasia of fingers excluding thumb, unilateral digits 2-5 hypodactyly, unilateral digits 2-5 oligodactyly, unilateral Adactylia, unilateral partial deletion of chromosome 8q partial deletion of the long arm of chromosome type 8 partial monosomy of chromosome 8q partial monosomy of the long arm of chromosome 8 Partial deletion of the long arm of chromosome 8 9p deletion 9p deletion syndrome 9p monosomy 9p syndrome 9p- syndrome Alfi syndrome chromosome 9p deletion deletion 9p monosomy 9p monosomy 9p syndrome monosomy type 9p partial deletion of chromosome 9p partial deletion of the short arm of chromosome 9 partial deletion of the short arm of chromosome type 9 partial monosomy 9p partial monosomy of chromosome 9p partial monosomy of the short arm of chromosome 9 Chromosome 9p deletion syndrome alopecia, anosmia, deafness, hypogonadism syndrome alopecia-anosmia-conductive hearing loss-hypogonadism syndrome alopecia-anosmia-deafness-hypogonadism syndrome johnson mcmillin syndrome johnson-mcmillin syndrome Johnson neuroectodermal syndrome deficiency of chondroitinase deficiency of chondroitinsulfatase deficiency of galactose-6-sulfate sulfatase deficiency of n-acetylgalactosamine-6-sulfatase galactosamine-6-sulfatase deficiency galactose-6-sulfatase deficiency galns deficiency morquio a syndrome morquio disease type a morquio syndrome a morquio syndrome a, mild morquio's syndrome, classic form mps iv a mps iv-a-mucopolysaccharidosis iv-a mps4a mpsiva mucopolysaccharidosis iv-a mucopolysaccharidosis iva mucopolysaccharidosis type iv a mucopolysaccharidosis, mps-iv-a n-acetylgalactosamine-6-sulfatase deficiency n-acetylgalactosamine-6-sulfate sulfatase deficiency Mucopolysaccharidosis type 4a beta-d-galactosidase deficiency morquio b syndrome morquio disease type b morquio syndrome b morquio-like syndrome mps 4b mps iv b mps iv-b - mucopolysaccharidosis iv-b mps4b mpsivb mucopolysaccharidosis iv-b mucopolysaccharidosis type 4b mucopolysaccharidosis type iv b mucopolysaccharidosis type ivb (morquio) Mucopolysaccharidosis, MPS-IV-B diarrheogenic islet cell tumor diarrheogenic islet cell tumour malignant vasoactive intestinal peptide-secreting tumor malignant vasoactive intestinal peptide-secreting tumour vasoactive intestinal peptide producing tumour vasoactive intestinal peptide-secreting tumor vasoactive intestinal peptide-secreting tumor of the pancreas vasoactive intestinal peptide-secreting tumour verner-morrison syndrome vip- secreting tumour vip-oma - vasoactive intestinal peptide-secreting tumor vip-producing neuroendocrine tumour vip-secreting tumor vip-secreting tumour vipoma, malignant VIPoma holoprosencephaly-fetal akinesia/hypokinesia sequence syndrome lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome morse-rawnsley-sargent syndrome Holoprosencephaly-hypokinesia-congenital contractures syndrome allanson pantzar mcleod syndrome primitive renal tubule syndrome renotubular dysgenesis Renal tubular dysgenesis hereditary dysautonomia with motor neuropathy lisker garcia ramos syndrome lisker-garcia-ramos syndrome peripheral motor neuropathy associated with autonomic dysfunction peripheral motor neuropathy dysautonomia syndrome Peripheral motor neuropathy-dysautonomia syndrome idiopathic tracheobronchomegaly Congenital tracheobronchomegaly bedouin spastic ataxia syndrome mousa-al din-al nassar syndrome spastic ataxia and corneal dystrophy spastic ataxia-ocular anomalies syndrome spinocerebellar degeneration co-occurrent with macular corneal dystrophy Spastic ataxia-corneal dystrophy syndrome kno1 knobloch syndrome type 1 knobloch syndrome type i knobloch syndrome, type 1 knobloch-layer syndrome retinal detachment-occipital encephalocele syndrome Knobloch syndrome 1 heparan sulfate sulfatase deficiency heparan sulphate sulfatase deficiency mps3 mpsiii mucopolysaccharidosis type 3 mucopolysaccharidosis, mps-iii n-sulphoglucosamine sulphohydrolase deficiency sanfilippo disease sanfilippo's syndrome Sanfilippo syndrome arachnodactyly with abnormal ossification and intellectual disability syndrome kosztolanyi syndrome Arachnodactyly-abnormal ossification-intellectual disability syndrome idiopathic multicentric osteolysis with or without nephropathy multicentric osteolysis of carpal bones and nephropathy Multicentric carpo-tarsal osteolysis with or without nephropathy biotin-responsive multiple carboxylase deficiencies mcd Multiple carboxylase deficiency mea i mea, type 1 men 1 men 1 - multiple endocrine neoplasia syndrome type 1 men 1 syndrome men i men, type 1 men1 men1 multiple endocrine neoplasia men1 syndrome multiple endocrine adenomatosis, type 1 multiple endocrine neoplasia 1 multiple endocrine neoplasia caused by mutation in men1 multiple endocrine neoplasia syndrome type 1 multiple endocrine neoplasia type 1 syndrome Multiple endocrine neoplasia type 1 albers schonberg osteopetrosis albers-schoenberg disease albers-schonberg osteopetrosis albers-schönberg osteopetrosis autosomal dominant albers-schonberg disease autosomal dominant osteopetrosis type 2 autosomal dominant osteopetrosis type ii opta2 osteopetroses osteopetrosis autosomal dominant type 2 osteopetrosis, autosomal dominant type 2 osteosclerosis fragilis Autosomal dominant osteopetrosis 2 familial chromaffinomatosis mea, type 2 men, type 2 men2 multiple endocrine adenomatosis, type 2 ptc syndrome sipple syndrome sipple's syndrome Multiple endocrine neoplasia, type 2 Familial multiple fibrofolliculoma LMPS autosomal recessive lethal multiple pterygium syndrome Lethal multiple pterygium syndrome deafness-hermann type symphalangism syndrome facio-audio-symphalangism hearing loss-hermann type symphalangism syndrome multiple synostoses syndrome symphalangism syndrome symphalangism-brachydactyly syndrome wl syndrome Multiple synostosis syndrome acro-dermo-ungual-lacrimal-tooth syndrome (adult syndrome) acrodermatounguallacrimaltooth syndrome adult (acro-dermato-ungual-lacrimal-tooth) syndrome pigment anomaly-ectrodactyly-hypodontia syndrome Adult syndrome cmd1a cmd1a - congenital muscular dystrophy type 1a congenital merosin-deficient muscular dystrophy 1a congenital merosin-deficient muscular dystrophy type 1a congenital muscular dystrophy caused by mutation in lama2 congenital muscular dystrophy due to laminin alpha2 deficiency lama2 congenital muscular dystrophy laminin subunit alpha 2-related congenital muscular dystrophy mcd1a - muscular congenital dystrophy type 1a merosin-negative congenital muscular dystrophy muscular dystrophy, congenital merosin-deficient, type 1a muscular dystrophy, congenital, merosin deficient or partially deficient Merosin deficient congenital muscular dystrophy autosomal recessive limb-girdle muscular dystrophy caused by mutation in trim32 hutterite type of muscular dystrophy lgmd due to trim32 deficiency lgmd type 2h lgmd2h lgmdr8 limb-girdle muscular dystrophy due to trim32 deficiency muscular dystrophy hutterite type muscular dystrophy, limb-girdle, autosomal recessive 8 sarcotubular myopathy trim32 autosomal recessive limb-girdle muscular dystrophy trim32-related lgmd r8 trim32-related limb-girdle muscular dystrophy r8 Autosomal recessive limb-girdle muscular dystrophy type 2h gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome laband syndrome zimmerman laband syndrome zimmermann-laband syndrome type 1 zls Zimmermann-Laband syndrome autosomal recessive limb girdle muscular dystrophy type 2e autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcb beta-sarcoglycan-related lgmd r4 lgmd due to beta-sarcoglycan deficiency lgmd type 2e lgmd2e lgmdr4 limb girdle muscular dystrophy due to beta-sarcoglycan deficiency limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency muscular dystrophy, limb-girdle, autosomal recessive 4 muscular dystrophy, limb-girdle, type 2e sgcb autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2e Muscular dystrophy-white matter spongiosis syndrome glycogen storage disease caused by mutation in phka1 glycogen storage disease due to muscle phosphorylase kinase deficiency glycogen storage disease type 9d glycogen storage disease type 9e glycogen storage disease type ixd glycogen storage disease type ixe glycogenosis due to muscle phosphorylase kinase deficiency glycogenosis type 9d glycogenosis type 9e glycogenosis type ixd glycogenosis type ixe gsd due to muscle phosphorylase kinase deficiency gsd ixd gsd type 9d gsd type 9e gsd type ixd gsd type ixe gsd9d muscle glycogenosis, x-linked recessive muscle phosphorylase kinase deficiency phka1 glycogen storage disease phka1-related glycogen storage disease type ix phka1-related phosphorylase kinase deficiency Glycogen storage disease ixd tetra-amelia with multiple malformation syndrome tetraamelia with multiple malformation syndrome zimmer phocomelia Tetraamelia-multiple malformations syndrome madura foot mycetomata Mycetoma ctcl/ mycosis fungoides cutaneous t-cell lymphoma/mycosis fungoides mf mf - mycosis fungoides mycosis fungoides (clinical) mycosis fungoides (morphologic abnormality) mycosis fungoides lymphoma mycosis fungoides nos (morphologic abnormality) mycosis fungoides of unspecified site mycosis fungoides, alibert-bazin type mycosis fungoides, unspecified site, extranodal and solid organ sites Mycosis fungoides ataxia pancytopenia syndrome myelocerebellar disorder Ataxia-pancytopenia syndrome mpo - myeloperoxidase deficiency mpo deficiency myeloperoxidase deficiency syndrome Myeloperoxidase deficiency zeta-associated-protein 70 deficiency Combined immunodeficiency due to zap70 deficiency epilepsy, progressive myoclonic 6 epilepsy, progressive myoclonic, type 6 epm6 gosr2 (golgi snap receptor complex member 2) related progressive myoclonus ataxia gosr2 progressive myoclonic epilepsy gosr2-related progressive myoclonus ataxia north sea progressive myoclonus epilepsy pme (progressive myoclonic epilepsy) type 6 pme type 6 progressive myoclonic epilepsy caused by mutation in gosr2 progressive myoclonus epilepsy type 6 Progressive myoclonic epilepsy type 6 myoclonus-cerebellar ataxia-hearing loss syndrome Myoclonus-cerebellar ataxia-deafness syndrome hereditary myoclonus with progressive distal muscular atrophy hereditary myoclonus-progressive distal muscular atrophy syndrome jankovic-rivera syndrome sma-pme Spinal muscular atrophy-progressive myoclonic epilepsy syndrome baltic myoclonus epilepsy epilepsy, progressive myoclonic 1a (unverricht and lundborg) pme type 1 progressive myoclonic epilepsy type 1 progressive myoclonus epilepsy type 1 unverricht - lundborg disease unverricht's disease Unverricht-Lundborg syndrome mt-cyb-related recurrent myoglobinuria myoglobinuria, episodic recurrent myoglobinuria Myoglobinuria, recurrent mitochondrial myopathy, lipid type myopathy and diabetes mellitus Mitochondrial myopathy with diabetes myopathy with tubular aggregates myopathy, tubular aggregate, type 1 tam Tubular aggregate myopathy mitochondrial myopathy and sideroblastic anaemia mitochondrial myopathy and sideroblastic anemia mitochondrial myopathy with sideroblastic anemia syndrome mlasa msa myopathy, lactic acidosis and sideroblastic anaemia myopathy, lactic acidosis and sideroblastic anemia myopathy, lactic acidosis, and siderblastic anaemia myopathy, lactic acidosis, and siderblastic anemia Myopathy, lactic acidosis, and sideroblastic anemia carey fineman ziter syndrome carey-fineman-ziter syndrome myopathy-moebius-robin syndrome Congenital nonprogressive myopathy with Moebius and Robin sequences autophagic vacuolar myopathy avm myopathy, x-linked, with excessive autophagy, x-linked recessive vacuolar myopathy xmea X-linked myopathy with excessive autophagy ibm - inclusion body myositis sibm sporadic inclusion body myositis Inclusion body myositis Wt limb-blood syndrome autosomal dominant endosteal hyperostosis autosomal dominant osteosclerosis autosomal dominant osteosclerosis, worth type benign form of worth hyperostosis corticalis generalisata with torus platinus endosteal hyperostosis, worth type hyperostosis, endosteal osteosclerosis autosomal dominant worth type ostéosclérose autosomique dominante type worth worth syndrome worth's syndrome Worth disease NSX N syndrome alpha-n-acetylgalactosaminidase deficiency, type iii naga (alpha-n-acetylgalactosaminidase) deficiency type 3 naga deficiency type 3 schindler disease type 3 schindler disease, type 3 schindler disease, type iii Alpha-n-acetylgalactosaminidase deficiency type 3 at v1 ataxia telangiectasia variant v1 ataxia-telangiectasia, variant 1 berlin breakage syndrome immunodeficiency, microcephaly with normal intelligence immunodeficiency-microcephaly-chromosomal instability syndrome microcephaly, normal intelligence and immunodeficiency microcephaly-immunodeficiency-lymphoid malignancy syndrome microcephaly-immunodeficiency-lymphoreticuloma syndrome nbs nbs - nijmegen breakage syndrome seemanova syndrome seemanova syndrome ii seemanova syndrome type 2 Nijmegen breakage syndrome complex 1 mitochondrial respiratory chain deficiency complex i deficiency isolated complex i deficiency isolated mitochondrial respiratory chain complex i deficiency isolated nadh-coenzyme q reductase deficiency isolated nadh-coq reductase deficiency isolated nadh-ubiquinone reductase deficiency mitochondrial respiratory chain complex i deficiency nadh - nicotinamide adenine dinucleotide coenzyme q reductase deficiency nadh coenzyme q reductase deficiency nadh:q(1) oxidoreductase deficiency nicotinamide adenine dinucleotide coenzyme q reductase deficiency Mitochondrial complex I deficiency Methemoglobin reductase deficiency osteomesopycnosis osteomesopyknosis Axial osteosclerosis franceschetti-jadassohn syndrome naegeli's syndrome Naegeli-franceschetti-jadassohn syndrome PRAAS1 proteasome-associated autoinflammatory syndrome 1 and digenic forms Proteasome-associated autoinflammatory syndrome 1 IGHD IB congenital IGHD type IB congenital isolated GH deficiency type IB congenital isolated growth hormone deficiency type IB dwarfism of Sindh growth hormone deficiency, isolated, type IB Isolated growth hormone deficiency type ib congenital ighd type iii congenital isolated gh deficiency type iii congenital isolated growth hormone deficiency type iii fleisher syndrome ighd iii isolated growth hormone deficiency, type iii, with agammaglobulinemia isolated growth hormone deficiency, type iii, with agammaglobulinemia, x-linked recessive x-linked agammaglobulinemia and isolated growth hormone deficiency x-linked agammaglobulinemia with growth hormone deficiency x-linked hypogammaglobulinemia and isolated growth hormone deficiency x-linked ighd x-linked isolated growth hormone deficiency Isolated growth hormone deficiency type iii ghis short stature due to a defect in growth hormone receptor or post-receptor pathway Growth hormone insensitivity syndrome Nasopalpebral lipoma-coloboma syndrome neuronal intestinal pseudoobstruction vscn1 Visceral neuropathy, familial, 1, autosomal recessive deafness with cataract and skeletal anomaly syndrome deafness-cataract-skeletal anomalies syndrome deafness-cataracts-skeletal anomalies syndrome sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome Nathalie syndrome chigoe disease chigoe infestation infestation by sand flea jigger disease jiggers infestation niguiasis sand flea infestation sarcopsyllosis tunga penetrans caused disease or disorder tunga penetrans disease or disorder tunga penetrans infectious disease tunga penetrans infestation tungiasis (sandflea) infestation Tungiasis juvenile chronic arthritis, polyarticular seronegative juvenile idiopathic arthritis, polyarthritis, rheumatoid factor negative juvenile polyarthritis without rheumatoid factor juvenile rheumatoid factor-negative polyarthritis juvenile seronegative polyarthritis polyarthritis without rheumatoid factor rheumatoid factor-negative jia rheumatoid factor-negative polyarticular jia rheumatoid factor-negative polyarticular juvenile idiopathic arthritis Rheumatoid factor-negative juvenile idiopathic arthritis nephroblastomatosis - fetal ascites - macrosomia - wilms tumor nephroblastomatosis - foetal ascites - macrosomia - wilms tumour nephroblastomatosis, fetal ascites, macrosomia and wilms tumor nephroblastomatosis, foetal ascites, macrosomia and wilms tumour nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome nephroblastomatosis-fetal ascites-macrosomia-wilms tumour syndrome renal hamartomas, nephroblastomatosis and foetal gigantism Perlman syndrome Giuffre-Tsukahara syndrome Giuffré-Tsukahara syndrome Tsukahara syndrome Radioulnar synostosis-microcephaly-scoliosis syndrome edwards-patton-dilly syndrome nephropathy-deafness-hyperparathyroidism syndrome nephropathy-hearing loss-hyperparathyroidism syndrome Nephropathy - deafness - hyperparathyroidism syndrome braun-bayer syndrome nephrosis-hearing loss-urinary tract-digital malformations syndrome Nephrosis-deafness-urinary tract-digital malformations syndrome familial idiopathic nephrotic syndrome genetic srns genetic steroid-resistant nephrotic syndrome hereditary steroid-resistant nephrotic syndrome Familial idiopathic steroid-resistant nephrotic syndrome chi persistent hyperinsulinemic hypoglycemia of infancy phhi Congenital isolated hyperinsulinism encephalopathy recurrent of childhood neuhauser-eichner-opitz syndrome recurrent encephalopathy of childhood recurrent encephalophathy of childhood Encephalopathy, recurrent, of childhood mackay-shek-carr syndrome retinal degeneration, nanophthalmos, glaucoma syndrome Retinal degeneration-nanophthalmos-glaucoma syndrome combined deficiency of neuroaminidase and beta galactosidase gsl - galactosialidosis protective protein deficiency Combined deficiency of sialidase AND beta galactosidase amyotrophy, hereditary neuralgic amyotrophy, hereditary neuralgic, with predilection for brachial plexus brachial plexus neuropathy, hereditary hereditary brachial plexus neuropathy hereditary neuralgic amyotrophy neuritis with brachial predilection Amyotrophic neuralgia chac choreo-acanthocytosis levine-critchley syndrome Chorea-acanthocytosis inad inad - infantile neuroaxonal dystrophy infantile neuroaxonal dystrophy 1 nbia2a neurodegeneration with brain iron accumulation type 2a neurodegeneration, pla2g6-associated plan seitelberger's disease spastic amaurotic axonal idiocy Infantile neuroaxonal dystrophy Neuroectodermal-endocrine syndrome deer fly fever francis' disease francisella tularensis caused disease or disorder francisella tularensis disease or disorder francisella tularensis infectious disease infection by francisella tularensis o'hara's disease ohara's disease pahvant valley fever yatobyo Tularemia Neuroepithelioma freire maia pinheiro opitz syndrome freire maia-pinheiro-opitz syndrome nfdr (neurofaciodigitorenal) syndrome Neurofaciodigitorenal syndrome autosomal dominant café au lait spots cafe-au-lait spots, multiple familial cafe-au-lait spots familial café-au-lait spots familial calms (café-au-lait macules) isolated familial isolated café-au-lait macules familial isolated café-au-lait spots multiple birthmarks multiple cafe-au-lait spots multiple cafe-au-lait syndrome multiple café-au-lait spots multiple café-au-lait syndrome multiple flat light-brown marks on skin neurofibromatosis type 6 nf6 nf6 - neurofibromatosis type 6 Cafe au lait spots, multiple Neuronal intranuclear inclusion disease mitochondrial dna depletion syndrome type 6 navajo neurohepatopathy navajo neuropathy Mitochondrial dna depletion syndrome 6 (hepatocerebral type) autosomal recessive demyelinating charcot-marie-tooth disease type 4d charcot-marie-tooth disease type 4 caused by mutation in ndrg1 charcot-marie-tooth disease, demyelinating, type 4d charcot-marie-tooth neuropathy type 4d charcot-marie-tooth neuropathy type 4d (cmt4d) cmt4d hereditary motor abd sensory neuropathy lom type hereditary motor and sensory neuropathy lom type hereditary motor and sensory neuropathy, lom type hmsn lom type hmsn, lom type hmsn-lom hmsn4d hmsnl ndrg1 charcot-marie-tooth disease type 4 Charcot-Marie-Tooth disease type 4D autosomal recessive sensory radicular neuropathy dominant hereditary sensory neuropathy, type ii hereditary sensory and autonomic neuropathy type ii hereditary sensory and autonomic neuropathy, type ii hsan2 hsn type ii morvan disease neurogenic acroosteolysis neuropathy, congenital sensory neuropathy, progressive sensory, of children painless whitlow disease Hereditary sensory and autonomic neuropathy type 2 chanarin-dorfman syndrome chanarin-miranda syndrome dorfman-chanarin disease lipid storage myopathy and congenital ichthyosis nlsdi Triglyceride storage disease with ichthyosis Bagatelle Cassidy syndrome neutropenia, severe congenital, X-linked, X-linked recessive severe congenital neutropenia, X-linked X-linked severe congenital neutropenia neutropenia, monocytopenia, deafness syndrome neutropenia-monocytopenia-hearing loss syndrome Neutropenia-monocytopenia-deafness syndrome capillary malformations, congenital, 1, somatic, mosaic familial multiple port-wine stains nevi flammei nevus flammeus port wine birthmark port wine nevus port wine stain port wine stain of skin port wine stain of the skin port wine type hemangioma port-wine stain of skin salmon patch nevus Familial multiple nevi flammei 46,xx gonadal dysgenesis 46,xx testicular disorders of sex development 46,xx testicular dsd de la chapelle syndrome xx, male syndrome 46,XX testicular disorder of sex development npc2 Niemann-pick disease, type c2 hunter-thompson-reed syndrome night blindness, skeletal anomalies, dysmorphism syndrome Night blindness-skeletal anomalies-dysmorphism syndrome X-linked CSNB XLCSNB congenital stationary night blindness, X-linked X-linked congenital stationary night blindness ectopia lentis, chorioretinal dystrophy, myopia syndrome noble-bass-sherman syndrome Ectopia lentis-chorioretinal dystrophy-myopia syndrome dipetalonema infectious disease dipetalonemosis infection by dipetalonema infection by dipetalonema perstans infection by dipetalonema perstans (disorder) [ambiguous] infection caused by dipetalonema mansonella perstans mansonella perstans caused disease or disorder mansonella perstans disease or disorder mansonella perstans infectious disease Dipetalonemiasis gapo (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome growth delay-alopecia-pseudoanodontia-optic atrophy syndrome growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Gapo syndrome acute gangrenous stomatitis Cancrum oris MIDD mitochondrial diabetes Maternally-inherited diabetes and deafness cln8 disease, northern epilepsy variant early onset familial encephalopathy with neuroserpin inclusion bodies epmr ncl, northern epilepsy variant neuronal ceroid lipofuscinosis, northern epilepsy variant northern epilepsy northern epilepsy variant, neuronal ceroid lipofuscinosis, northern epilepsy variant progressive epilepsy with intellectual disability, northern epilepsy progressive epilepsy with mental retardation progressive epilepsy-intellectual disability syndrome finnish type progressive epilepsy-intellectual disability syndrome, finnish type progressive myoclonic epilepsy with neuroserpin inclusion bodies Neuronal ceroid lipofuscinosis 8 northern epilepsy variant complete lcat (lecithin-cholesterol acyltransferase) deficiency complete lcat deficiency familial lecithin cholesterol acyltransferase deficiency fld lecithin:cholesterol acyltransferase deficiency Norum disease nova syndrome port-wine nevi, mega cisterna magna, hydrocephalus syndrome Port-wine nevi-mega cisterna magna-hydrocephalus syndrome eds ix ehlers-danlos syndrome type 9 ehlers-danlos syndrome type 9 x-linked ehlers-danlos syndrome type ix ehlers-danlos syndrome, mental retardation type ehlers-danlos syndrome, type 9 ehlers-danlos syndrome, x-linked skeletal type occipital horn syndrome occipital horn syndrome, x-linked recessive x-linked cutis laxa Cutis laxa, X-linked primary tethered spinal cord syndrome Primary tethered cord syndrome Behrens-Baumann-Vogel syndrome oculo-cerebral dysplasia Behrens Baumann dust syndrome oafns oafns - oculoauriculofrontonasal syndrome Oculoauriculofrontonasal syndrome oculocerebral hypopigmentation syndrome of preus type oculocerebral hypopigmentation syndrome, preus type Oculocerebral hypopigmentation syndrome of preus albinism 1 albinism i oca1 tyr-gene related oculocutaneous albinism type 1 Oculocutaneous albinism type 1 albinism ii albinism, oculocutaneous, type ii, modifier of oca2 oca2 - tyrosinase-positive oculocutaneous albinism oculocutaneous albinism, tyrosinase-positive Oculocutaneous albinism type 2 albinism iii oca3 oculocutaneous albinism caused by mutation in tyrp1 red oculocutaneous albinism red-skin albinism rufous albinism rufous oculocutaneous albinism tyrp1 oculocutaneous albinism xanthous oculocutaneous albinism Oculocutaneous albinism type 3 hernandez fragoso syndrome hernández-fragoso syndrome oochs Osteoporosis-oculocutaneous hypopigmentation syndrome oblfc1 richieri-costa-gorlin syndrome Oculomaxillofacial dysostosis arthrogryposis multiple congenita, ophthalmoplegia, ptosis arthrogryposis with oculomotor limitation and electroretinal anomaly arthrogryposis, distal, type iib distal arthrogryposis type 5 distal arthrogryposis type iib distal arthrogryposis with ophthalmoplegia oculomelic amyoplasia Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome onat syndrome subaortic stenosis and short stature syndrome Subaortic stenosis-short stature syndrome hunter jurenka thompson syndrome hunter-jurenka-thompson syndrome orc (oculo-renal-cerebellar) syndrome severe oculo-renal-cerebellar syndrome Oculorenocerebellar syndrome odonto onycho dysplasia with alopecia syndrome odonto-onycho dysplasia alopecia syndrome Odonto-onycho dysplasia-alopecia syndrome Odontomicronychial dysplasia OODD Odonto-onycho-dermal dysplasia foveal hypoplasia with presenile cataract syndrome o'donnell pappas syndrome o'donnell-pappas syndrome Foveal hypoplasia-presenile cataract syndrome ofd8 ofds viii oral-facial-digital syndrome edwards type oral-facial-digital syndrome type 8 oral-facial-digital syndrome, edwards type oral-facial-digital syndrome, type viii oro-facial digital syndrome type 8 orofaciodigital syndrome edwards type orofaciodigital syndrome type viii orofaciodigital syndrome viii, x-linked recessive orofaciodigital syndrome, edwards type Orofaciodigital syndrome viii ofds x oral-facial-digital syndrome, type x oro-facial digital syndrome type 10 orofaciodigital syndrome type x Orofaciodigital syndrome x autosomal recessive degenerative and progressive cerebellar ataxia caused by mutation in twnk infantile-onset spinocerebellar ataxia iosca mitochondrial dna depletion syndrome 7 (hepatocerebral type) mitochondrial dna depletion syndrome type 7 ohaha syndrome ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome twnk autosomal recessive degenerative and progressive cerebellar ataxia Infantile onset spinocerebellar ataxia au kline syndrome auks hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation okamoto syndrome Au-kline syndrome Postaxial tetramelic oligodactyly oligomeganephronic hypoplasia oligomeganephronic hypoplasia of kidney oligomeganephronic renal hypoplasia Oligomeganephronia postaxial polydactyly and intellectual disability syndrome postaxial polydactyly-intellectual disability syndrome Oliver syndrome o'doherty syndrome pigmentary disorder with deafness pigmentary disorder with hearing loss Ermine phenotype olivopontocerebellar atrophy and deafness olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss olivopontocerebellar atrophy-hearing loss syndrome Olivopontocerebellar atrophy-deafness syndrome atxn1 autosomal dominant cerebellar ataxia type i autosomal dominant cerebellar ataxia type i caused by mutation in atxn1 cerebelloparenchymal disorder i olivopontocerebellar atrophy i olivopontocerebellar atrophy iv sca1 spinocerebellar atrophy i Spinocerebellar ataxia type 1 atxn2 autosomal dominant cerebellar ataxia type i autosomal dominant cerebellar ataxia type i caused by mutation in atxn2 olivopontocerebellar atrophy ii opca2 sca2 spinocerebellar atrophy ii Spinocerebellar ataxia type 2 congenital palmoplantar and perioral keratoderma of olmsted mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques mutilating palmoplantar keratoderma with periorificial keratotic plaques olms palmoplantar and periorificial keratoderma palmoplantar keratoderma, mutilating, with periorificial keratotic plaques Olmsted syndrome micromelic dysplasia, dislocation of radius syndrome micromelic dysplasia-dislocation of radius syndrome omodysplasia type 1 omodysplasia, autosomal recessive Autosomal recessive omodysplasia czeizel syndrome lethal omphalocele with cleft palate syndrome Lethal omphalocele-cleft palate syndrome Short stature due to growth hormone qualitative anomaly cloacal exstrophy (disease) exstrophy of cloaca exstrophy of cloaca sequence omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome Cloacal exstrophy omphalomesenteric duct cyst vitelline duct cyst Omphalomesenteric cyst ODP anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome Cooks syndrome Prurigo Nodularis poikiloderma with neutropenia, Clericuzio type Poikiloderma with neutropenia kuzniecky syndrome pachygyria with impaired intellectual development, seizures, and arachnoid cysts pachygyria, intellectual disability, epilepsy syndrome Pachygyria-intellectual disability-epilepsy syndrome Opsismodysplasia cakut with or without ocular abnormalities coloboma of optic nerve with renal disease congenital anomalies of the kidney and urinary tract with or without ocular abnormalities optic coloboma, vesicoureteral reflux and renal anomalies papillo-renal syndrome papillo-renal syndrome, optic nerve coloboma with renal disease papillorenal syndrome with mild ocular abnormalities renal-coloboma syndrome with macular abnormalities Renal coloboma syndrome glioma of optic tract glioma of the optic tract optic tract glioma Optic pathway glioma hrd syndrome hrds hypoparathyroidism with short stature, intellectual disability and seizures hypoparathyroidism, intellectual disability, dysmorphism syndrome hypoparathyroidism, short stature, intellectual disability, seizures syndrome hypoparathyroidism-intellectual disability-dysmorphism syndrome hypoparathyroidism-short stature-intellectual disability-seizures syndrome richardson kirk syndrome richardson-kirk syndrome sanjad sakati syndrome sss sss - sanjad sakati syndrome Hypoparathyroidism-retardation-dysmorphism syndrome Oroacral syndrome Oromandibular-limb hypogenesis syndrome ofd11 ofds xi oral-facial-digital syndrome gabrielli type oral-facial-digital syndrome type 11 oral-facial-digital syndrome, gabrielli type oral-facial-digital syndrome, type xi oro-facial digital syndrome type 11 orofaciodigital syndrome gabrielli type orofaciodigital syndrome type xi orofaciodigital syndrome, gabrielli type Orofaciodigital syndrome xi intellectual developmental disorder, syndromic 11, shashi type, x-linked recessive intellectual developmental disorder, x-linked, syndromic 11 intellectual disability, x-linked, syndromic 11, shashi type mrxs11 shashi x-linked intellectual disability syndrome smrxs syndromic x-linked intellectual disability type 11 x-linked intellectual disability shashi type Syndromic X-linked intellectual disability Shashi type glandular cheilitis simple cheilitis glandularis Cheilitis glandularis ofd5 ofds v oral-facial-digital syndrome type 5 oral-facial-digital syndrome, type v oro-facial digital syndrome type 5 orofaciodigital syndrome thurston type orofaciodigital syndrome type 5 orofaciodigital syndrome type v orofaciodigital syndrome, thurston type polydactyly postaxial with median cleft of upper lip thurston syndrome Orofaciodigital syndrome v ofd syndrome 1 ofd1 ofdi ofds 1 ofds i ofdsi oral facial digital syndrome 1 oral facial digital syndrome type 1 oral-facial-digital syndrome 1 oral-facial-digital syndrome type 1 oral-facial-digital syndrome type i oral-facial-digital syndrome, type 1 oro-facial digital syndrome type 1 orofaciodigital syndrome 1 orofaciodigital syndrome i, x-linked dominant orofaciodigital syndrome type i papillon léage psaume syndrome papillon-leage and psaume syndrome papillon-leage-psaume syndrome papillon-league-psaume syndrome (formerly) papillon-léage-psaume syndrome Orofaciodigital syndrome i oslam (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome osteosarcoma, limb anomalies, erythroid macrocytosis syndrome osteosarcoma-limb anomalies-erythroid macrocytosis syndrome Oslam syndrome go - geroderma osteodysplastica osteodysplastic geroderma Geroderma osteodysplastica Nance-Insley syndrome Nance-Sweeney chondrodysplasia OSMED chondrodystrophy with sensorineural deafness otospondylmegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia aseptic necrosis of phalangeal epiphyses familial osteoarthropathy of fingers osteochondritis of phalangeal epiphyses osteochondrosis of phalangeal epiphyses thiemann disease familial form thiemann disease, familial form thiemann syndrome Familial osteoarthropathy of the fingers familial osteochondritis dissecans od osteochondritis dissecans and short stature osteochondritis dissecans, short stature, and early-onset osteoarthritis ssoaod Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans familial osteodysplasia anderson type Familial osteodysplasia, anderson type Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome athyroidal hypothyroidism with spiky hair and cleft palate athyroidal hypothyroidism with spiky hair and cleft palate syndrome athyroidal hypothyroidism-spiky hair-cleft palate syndrome bamforth lazarus syndrome bamforth syndrome hypothyroidism and cleft palate syndrome hypothyroidism, athyroidal, with spiky hair and cleft palate hypothyroidism-cleft palate syndrome Bamforth-lazarus syndrome Osteoglophonic dwarfism Osteoglophonic dysplasia Osteopathia striata with cranial sclerosis, X-linked dominant Robinow-Unger syndrome hyperostosis generalisata with striations Osteopathia striata with cranial sclerosis absent eyebrows and eyelashes with intellectual disability syndrome absent eyebrows and eyelashes-intellectual disability syndrome eyebrows and eyelashes absence-intellectual disability syndrome hal-berg-rudolph syndrome hall berg rudolph syndrome Pseudoprogeria syndrome autosomal dominant osteopetrosis type 1 lrp5 osteopetrosis (disease) lrp5-related autosomal dominant osteopetrosis opta1 osteopetrosis (disease) caused by mutation in lrp5 osteopetrosis, autosomal dominant type 1 osteopetrosis, autosomal dominant, type i Autosomal dominant osteopetrosis 1 autosomal recessive osteopetrosis type 5 infantile malignant osteopetrosis 3 optb5 osteopetrosis (disease) caused by mutation in ostm1 osteopetrosis, autosomal recessive type 5 ostm1 osteopetrosis (disease) ostm1-related autosomal recessive osteopetrosis Autosomal recessive osteopetrosis 5 autosomal recessive osteopetrosis 3 with renal tubular acidosis autosomal recessive osteopetrosis type 3 ca2 - osteopetrosis with renal tubular acidosis ca2 osteopetrosis (disease) carbonic anhydrase 2 deficiency mixed renal tubular acidosis mixed rta osteopetrosis (disease) caused by mutation in ca2 osteopetrosis, autosomal recessive 3, with renal tubular acidosis osteopetrosis, autosomal recessive type 3 renal tubular acidosis type 3 Osteopetrosis with renal tubular acidosis albers-schonberg disease albers-schönberg disease harder, denser, fracture-prone bones marble bone marble bones osteopetrosis (disease) Osteopetrosis autosomal recessive intermediate osteopetrosis autosomal recessive osteopetrosis intermediate form autosomal recessive osteopetrosis type 6 optb6 osteopetrosis (disease) caused by mutation in plekhm1 osteopetrosis, autosomal recessive type 6 plekhm1 osteopetrosis (disease) plekhm1-related autosomal recessive osteopetrosis Autosomal recessive osteopetrosis 6 autosomal recessive malignant osteopetrosis caused by mutation in tnfsf11 autosomal recessive osteopetrosis caused by mutation in tnfsf11 autosomal recessive osteopetrosis type 2 mild autosomal recessive form osteopetrosis optb2 osteoclast-poor osteopetrosis osteopetrosis, autosomal recessive type 2 tnfsf11 autosomal recessive malignant osteopetrosis tnfsf11 autosomal recessive osteopetrosis tnfsf11-related autosomal recessive osteopetrosis tnfsf11-related osteopetrosis Autosomal recessive osteopetrosis 2 ocular form of osteogenesis imperfecta oppg osteoporosis-pseudoglioma syndrome Osteoporosis with pseudoglioma heart defect-tongue hamartoma-polysyndactyly syndrome ostravik-lindemann-solberg syndrome Heart defect - tongue hamartoma - polysyndactyly syndrome globodontia otodental dysplasia otodental dysplasia chromosome deletion syndrome Otodental syndrome fara chlupackova syndrome fara-chlupackova syndrome ofc ofc syndrome Otofaciocervical syndrome Otoonychoperoneal syndrome neuroocular syndrome 2, paroxysmal type noc2 ouvrier-billson syndrome Benign paroxysmal tonic upgaze of childhood with ataxia essential benign pentosuria essential pentosuria xylitol dehydrogenase deficiency Pentosuria Overhydrated hereditary stomatocytosis epiphyseal stippling syndrome-osteoclastic hyperplasia syndrome epiphyseal stippling with osteoclastic hyperplasia syndrome epiphyseal stippling-osteoclastic hyperplasia syndrome Pacman dysplasia Paget disease of bone type 3 Paget disease of bone 3 paget disease of skin paget disease, extramammary (except paget disease of bone) paget's disease, extramammary (except paget's disease of bone) Extramammary paget disease Pagon stephan syndrome congenital hydrocephalus, low insertion of umbilicus syndrome hydrocephaly-low insertion umbilicus syndrome palmer-pagon syndrome Palmer pagon syndrome Chromosome 9, Tetrasomy 9p Isochromosome 9p tetrasomy type 9p Tetrasomy 9p brain tumor-polyposis syndrome 1 btp1 syndrome cmmr-d constitutional mis-match repair deficiency syndrome mmrcs1 Mismatch repair cancer syndrome 1 congenital pancreatic agenesis pancreatic agenesis type 1 partial agenesis of the pancreas partial pancreatic agenesis Pancreatic agenesis pancreatic adenoma Adenoma of pancreas hereditary exocrine pancreatic carcinoma pancreatic cancer, somatic pancreatic carcinoma, somatic Familial pancreatic carcinoma pancreatoblastoma (morphologic abnormality) Pancreatoblastoma osteitis fibrosa disseminata pfd pfd - polyostotic fibrous dysplasia pofd - polyostotic fibrous dysplasia Polyostotic fibrous dysplasia of bone benign choroid plexus papilloma choroid plexus papilloma, no icd-o subtype Choroid plexus papilloma human respirovirus 3 caused disease or disorder human respirovirus 3 disease or disorder human respirovirus 3 infectious disease infection due to human parainfluenza virus 3 Parainfluenza virus type 3 infectious disease Paraomphalocele autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 bscl2 hereditary spastic paraplegia dhmn5b distal hereditary motor neuropathy type 5b hereditary spastic paraplegia caused by mutation in bscl2 hereditary spastic paraplegia type 17 silver disease silver spastic paraplegia syndrome silver syndrome spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet spg17 Hereditary spastic paraplegia 17 Parastremmatic dwarfism parc (poikiloderma, alopecia, retrognathism, cleft palate) syndrome poikiloderma, alopecia, retrognathism, cleft palate syndrome poikiloderma-alopecia-retrognathism-cleft palate syndrome Parc syndrome thrombocytopenia, Paris-Trousseau type, Isolated cases Paris-Trousseau thrombocytopenia familial paroxysmal ventricular fibrillation, non brugada type idiopathic ventricular fibrillation idiopathic ventricular fibrillation, non brugada type ivf paroxysmal familial ventricular fibrillation (disorder) paroxysmal ventricular fibrillation ventricular fibrillation, paroxysmal familial Paroxysmal familial ventricular fibrillation Parsonage Turner Syndrome acute brachial plexus neuritis immune brachial plexus neuropathy mononeuritis multiplex with brachial predilection neuralgic shoulder amyotrophy Neuralgic amyotrophy incomplete atrioventricular septal defect incomplete avsd partial atrioventricular canal defect partial atrioventricular septal defect partial avc defect partial defect of atrioventricular canal pavc pavsd Partial atrioventricular canal mental retardation-dystonic movements-ataxia-seizures syndrome partington syndrome, x-linked recessive partington-mulley syndrome x-linked intellectual deficit-dystonia-dysarthria syndrome x-linked intellectual disability-dystonia-dysarthria syndrome x-linked russell-silver syndrome Partington syndrome foetal parvovirus syndrome human parvovirus b19 caused infectious embryofetopathy human parvovirus b19 infectious embryofetopathy mother-to-child transmission of parvovirus syndrome parvovirus antenatal infection Fetal parvovirus syndrome pashayan prozansky syndrome pashayan syndrome pashayan-prozansky syndrome pashayan-pruzansky syndrome Blepharonasofacial malformation syndrome garcia lurie syndrome garcia-lurie syndrome xk-aprosencephaly XK aprosencephaly angioblastoma hypertrophic hemangioma nakagawa angioblastoma progressive capillary hemangioma tufted angioma (disease) Tufted angioma of skin patterson syndrome pseudoleprechaunism syndrome patterson type Pseudoleprechaunism syndrome, patterson type patterson-stevenson syndrome split foot deformity with mandibulofacial dysostosis syndrome split foot deformity-mandibulofacial dysostosis syndrome Patterson-stevenson-fontaine syndrome juvenile idiopathic arthritis, oligoarthritis pauciarticular chronic arthritis Oligoarticular juvenile idiopathic arthritis peho (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome progressive encephalopathy with edema, hypsarrhythmia and optic atrophy progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome progressive encephalopathy-optic atrophy syndrome Peho syndrome diffuse familial brain sclerosis hld1 hypomyelinating leukodystrophy 1 leukodystrophy, sudanophilic pelizaeus merzbacher brain sclerosis pelizaeus-merzbacher brain sclerosis pelizaeus-merzbacher disease, x-linked recessive pmd sudanophilic leukodystrophy sudanophilic leukodystrophy, paelizeus-merzbacher type Pelizeaus-Merzbacher spectrum disorder AIMP1 leukodystrophy HLD3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation hypomyelinating leukodystrophy type 3 leukodystrophy caused by mutation in AIMP1 leukodystrophy, hypomyelinating, type 3 Hypomyelinating leukodystrophy 3 Pellagra-like syndrome Ray-Peterson-Scott syndrome Pelvic dysplasia-arthrogryposis of lower limbs syndrome ptosis and vocal cord paralysis syndrome tucker syndrome Ptosis-vocal cord paralysis syndrome congenital hypothyroidism due to dyshormonogenesis 2b deafness with goiter deafness with goitre gdth iib genetic defect in thyroid hormonogenesis 2b genetic defect in thyroid hormonogenesis ii b goiter-deafness syndrome goiter-hearing loss syndrome hypothyroidism with sensorineural deafness hypothyroidism, congenital, due to dyshormonogenesis, 2b pendred's syndrome tdh2b thyroid dyshormonogenesis 2b thyroid hormone organification defect ii b thyroid hormonogenesis, genetic defect in, 2b Pendred syndrome Aphallia Aphallus congenital absence of penis penis agenesis Penile agenesis congenital penoscrotal transposition penoscrotal transposition (disease) Penoscrotal transposition acroosteolysis, keloid-like lesions, premature aging syndrome premature ageing syndrome, penttinen type premature aging syndrome, penttinen type prematurely aged appearance, delayed bone maturation, acro-osteolysis, and brachydactyly Acroosteolysis-keloid-like lesions-premature aging syndrome Phosphoenolpyruvate carboxykinase deficiency, cytosolic PEPCK deficiency, mitochondrial Phosphoenolpyruvate carboxykinase deficiency, mitochondrial craniofrontonasal dysplasia with poland anomaly syndrome webster deming syndrome webster-deming syndrome Craniofrontonasal dysplasia-poland anomaly syndrome Adam syndrome Streeter dysplasia amniotic band constriction amniotic bands amniotic deformity-adhesion-mutilation syndrome congenital ring constrictions constriction band syndrome constriction rings syndrome deformity due to amniotic band Amniotic band syndrome Alopecia-intellectual disability syndrome 2 distal osteolysis, short stature and intellectual disability distal osteolysis-short stature-intellectual disability syndrome petit fryns syndrome petit-fryns syndrome Autosomal recessive distal osteolysis syndrome mosaic trisomy 9 syndrome mosaic trisomy type 9 uniparental disomy of 9 Mosaic trisomy 9 8q13 microdeletion syndrome del(8)q(13) mesomelia synostoses syndrome verloes david pfeiffer type mesomelia-synostoses syndrome, verloes-david-pfeiffer type mesomelic dysplasia with acral synostoses verloes david pfeiffer type mesomelic dysplasia with acral synostoses, verloes-david-pfeiffer type monosomy 8q13 verloes david syndrome verloes-david syndrome Mesomelia-synostoses syndrome deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome pfeiffer-kapferer syndrome Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome pfeiffer-mayer syndrome preaxial polydactyly, colobomata, intellectual disability syndrome Preaxial polydactyly-colobomata-intellectual disability syndrome ppt (pfeiffer palm teller) syndrome short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome Pfeiffer-palm-teller syndrome congenital microtias m-a microtia microtia, congenital microtias, congenital Microtia-Anotia Phakomatosis pigmentokeratotica phakomatosis pigmentovascularis Port-wine stain with oculocutaneous melanosis 6,7-dihydropteridine reductase activity disease atypical phenylketonuria atypical pku bh4-deficient hyperphenylalaninemia c dhpr - dihydropteridine reductase deficiency disorder of 6,7-dihydropteridine reductase activity hyperphenylalaninemia due to dihydropteridine reductase deficiency hyperphenylalaninemia, bh4-deficient, type c hyperphenylalaninemia, type iv phenylketonuria ii phenylketonuria type 2 pku type 2 Dihydropteridine reductase deficiency phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome stoll lévy francfort syndrome Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome cdg syndrome type it cdg-it cdg1t congenital disorder of glycosylation type 1t congenital disorder of glycosylation type it glycogen storage disease xiv gsd xiv pgm1-cdg pgm1-cdg - phosphoglucomutase 1-related congenital disorder of glycosylation pgm1-related congenital disorder of glycosylation phosphoglucomutase 1-related congenital disorder of glycosylation phosphoglucomutase-1 deficiency PGM1-congenital disorder of glycosylation 11 beta-hydroxysteroid dehydrogenase type 2 deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 2 ame - apparent mineralocorticoid excess ape apparent mineralocorticoid excess syndrome ulick syndrome Apparent mineralocorticoid excess cid due to pgm3 deficiency combined immunodeficiency due to pgm3 (phosphoglucomutase 3) deficiency combined immunodeficiency due to pgm3 deficiency combined inflammatory and immunologic defect imd23 immunodeficiency type 23 immunodeficiency with hyper ige and cognitive impairment immunodeficiency-vasculitis-myoclonus syndrome pgm3-cdg pgm3-cdg - phosphoglucomutase 3-related congenital disorder of glycosylation pgm3-exact congenital disorder of glycosylation pgm3-related congenital disorder of glycosylation phosphoglucomutase 3 deficiency phosphoglucomutase 3-related congenital disorder of glycosylation phosphoglucomutase deficiency type 3 Immunodeficiency 23 gout, prps-related, x-linked recessive phosphoribosyl pyrophosphate synthetase superactivity phosphoribosylpyrophosphate synthetase superactivity, x-linked recessive prpp synthetase superactivity prps1 superactivity Phosphoribosylpyrophosphate synthetase superactivity bickers-adams syndrome hsas hydrocephalus due to aqueductal stenosis, x-linked recessive hydrocephalus with congenital idiopathic intestinal pseudoobstruction, x-linked recessive hydrocephalus with hirschsprung disease, x-linked recessive hydrocephalus with stenosis of the aqueduct of sylvius hydrocephalus, congenital, x-linked x-linked acqueductal stenosis x-linked hsas x-linked hydrocephalus x-linked hydrocephalus syndrome x-linked hydrocephalus with stenosis of aqueduct of sylvius X-linked hydrocephalus with stenosis of the aqueduct of Sylvius partial albinism piebald skin depigmentation piebald trait Piebaldism adca autosomal dominant hereditary ataxia autosomal dominant spinocerebellar ataxia cerebellar ataxia, autosomal dominant spinocerebellar ataxia, dominant Autosomal dominant cerebellar ataxia isolated pierre robin sequence micrognathia-glossoptosis syndrome pierre robin association pierre-robin anomaly pierre-robin deformity pierre-robin malformation pierre-robin sequence Isolated Pierre-Robin syndrome ausems wittebol post hennekam syndrome ausems-wittebol post-hennekam syndrome cleft lip retinopathy syndrome cleft lip-cone rod dystrophy syndrome cleft lip-progressive retinopathy syndrome Cleft lip-retinopathy syndrome ocular pigment dispersion with or without glaucoma opdg pigment-dispersion type glaucoma Pigment dispersion syndrome LORD autosomal dominant late-onset retinal degeneration Late-onset retinal degeneration alopecia and t-cell immunodeficiency alopecia immunodeficiency alymphoid cystic thymic dysgenesis congenital alopecia and nail dystrophy with severe functional t-cell immunodeficiency foxn1 deficiency nude/scid nude/severe combined immunodeficiency scid due to foxn1 deficiency severe combined immunodeficiency due to foxn1 deficiency severe t-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome winged helix deficiency T-cell immunodeficiency, congenital alopecia, and nail dystrophy ringed hair disease Pili annulati adult onset still disease adult onset still's disease aosd wissler-fanconi syndrome Adult-onset still disease flattened and twisted hair pili torti (disease) twisted hair Pili torti abnormal hair, joint laxity, and developmental delay Pili torti-developmental delay-neurological abnormalities syndrome pili torti onychodysplasia syndrome Pili torti-onychodysplasia syndrome omm (ophthalmomandibulomelic) syndrome omm syndrome pillay syndrome Ophthalmomandibulomelic dysplasia pinheiro, freire maia, miranda syndrome pinheiro-freire maia-miranda syndrome trichodermodysplasia and dental alterations syndrome Trichodermodysplasia-dental alterations syndrome pths - pitt-hopkins syndrome Pitt-hopkins syndrome Piussan-Lenaerts-Mathieu syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome alpha-sarcoglycan-related lgmd r3 alpha-sarcoglycan-related limb-girdle muscular dystrophy r3 alpha-sarcoglycanopathy lgmd2d (limb girdle muscular dystrophy type 2d) autosomal recessive limb girdle muscular dystrophy type 2d autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgca dmda2 duchenne-like autosomal recessive muscular dystrophy type 2 lgmd due to alpha-sarcoglycan deficiency lgmd type 2d limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency muscular dystrophy, limb-girdle, autosomal recessive 3 muscular dystrophy, limb-girdle, type 2d primary adhalinopathy sgca autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2d plasminogen deficiency type 1 plasminogen deficiency, type 1 plasminogen deficiency, type I type 1 plasminogen deficiency Hypoplasminogenemia congenital PAI-1 deficiency Congenital plasminogen activator inhibitor type 1 deficiency PLSD-T Platyspondylic dysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia, Torrance type platyspondylic skeletal dysplasia, Torrance type Platyspondylic dysplasia, torrance type pcp pcp - pneumocystis pneumonia pjp pneumocystis carinii pneumonia pneumocystosis jirovecii pneumonia pneumocystosis pneumonia pulmonary pneumocystosis Pneumocystosis abdomen cystic lymphangioma Abdominal cystic lymphangioma hereditary acrokeratotic poikiloderma of weary kindler epidermolysis bullosa kindler's syndrome ks poikiloderma of kindler Kindler syndrome congenital poikiloderma poikiloderma congenitale syndrome poikiloderma of rothmund-thomson rts Rothmund-Thomson syndrome haim munk syndrome keratosis palmoplantaris with periodontopathia and onychogryposis syndrome keratosis palmoplantaris-periodontopathia-onychogryposis syndrome palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome palmoplantar keratoderma-periodontopathia-onychogryposis syndrome Haim-munk syndrome central polydactyly cleft lip/palate or lingual lump and psychomotor retardation joubert syndrome with oral-facial-digital syndrome joubert syndrome with oro-facial-digital syndrome joubert syndrome with orofacialdigital anomalies joubert syndrome with orofaciodigital defect ofd6 ofds vi oral-facial-digital syndrome type 6 oral-facial-digital syndrome type vi orofaciodigital syndrome vi polydactyly-cleft lip/palate-psychomotor retardation syndrome varadi papp syndrome varadi syndrome y-shaped central metacarpal and cerebellar defect Orofaciodigital syndrome type 6 Czeizel-Brooser syndrome Polydactyly-myopia syndrome extra thumb polydactyly affecting the thumb polydactyly, preaxial type 1 ppd1 preaxial hand polydactyly preaxial polydactyly of hands preaxial polydactyly type 1 supernumerary thumb Polydactyly of a biphalangeal thumb bidirectional tachycardia induced by catecholamine bidirectional ventricular tachycardia induced by catecholamine cpvt cvpt double tachycardia induced by catecholamines malignant paroxysmal ventricular tachycardia multifocal ventricular premature beats polymorphic ventricular tachycardia induced by catecholamines ventricular tachycardia, catecholaminergic polymorphic Catecholaminergic polymorphic ventricular tachycardia lundberg syndrome polyneuropathy, intellectual disability, acromicria, premature menopause syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome canada-cronkhite syndrome ccs - cronkhite-canada syndrome cronkhite-canada polyposis gastric cronkhite canada polyposis gastrointestinal multiple polyposis syndrome gastrointestinal polyposis-ectodermal changes syndrome gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome Cronkhite-canada syndrome bonneau syndrome polysyndactyly and cardiac malformation syndrome Polysyndactyly-cardiac malformation syndrome LMBR1 non-syndromic syndactyly non-syndromic syndactyly caused by mutation in LMBR1 polysyndactyly, Haas type Syndactyly type 4 bartsocas papas syndrome lethal popliteal pterygium syndrome popliteal pterygium syndrome, bartsocas-papas type 1 popliteal pterygium syndrome, lethal type Bartsocas-papas syndrome 1 Bonnemann-Meinecke syndrome Porencephaly-cerebellar hypoplasia-internal malformations syndrome mibelli's disease porokeratosis, mibelli Porokeratosis of mibelli PPKP2 PPPP punctate palmoplantar hyperkeratosis type 2 Punctate palmoplantar keratoderma type 2 cep - congenital erythropoietic porphyria congenital photosensitive porphyria gunther's disease günther disease hematoporphyria congenita porphyria erythropoietica porphyria, erythropoietic uroporphyrinogen iii synthase deficiency Cutaneous porphyria post-polio progressive muscular atrophy postpolio muscular atrophy postpolio sequelae postpolio syndrome postpoliomyelitic syndrome postpoliomyelitis sequelae postpoliomyelitis syndrome progressive muscular atrophy following poliomyelitis Post poliomyelitis syndrome Choroiditides Choroiditis k+-aggravated myotonia k-aggravated myotonia myotonia congenita, atypical, acetazolamide-responsive pam sodium channel myotonia Potassium-aggravated myotonia phaver (pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect) syndrome powell chandra saal syndrome powell-chandra-saal syndrome pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome Phaver syndrome preaxial deficiency, postaxial polydactyly, hypospadias syndrome preaxial deficiency-postaxial polydactyly-hypospadias syndrome Guttmacher syndrome familial gonadotropin-independent male-limited sexual precocity familial male-limited precocious puberty familial testotoxicosis fmpp leydig cell adenoma, somatic, with precocious puberty lhcgr peripheral precocious puberty male-limited precocious puberty peripheral precocious puberty caused by mutation in lhcgr precocious puberty, male testotoxicosis testotoxicosis, familial Gonadotropin-independent familial sexual precocity congenital prekallikrein deficiency fletcher factor (prekallikrein) deficiency hereditary prekallikrein deficiency Inherited prekallikrein deficiency Premature aging syndrome, okamoto type absent corpus callosum-cataract-immunodeficiency syndrome corpus callosum agenesis-cataract-immunodeficiency syndrome dionisi-vici-sabetta-gambarara syndrome Vici syndrome Prieto syndrome, X-linked recessive Prieto-Badia-Mulas syndrome X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome Prieto syndrome griscelli syndrome with hemophagocytic syndrome griscelli-pruni??ras syndrome type 2 griscelli-pruniéras syndrome type 2 gs2 hypopigmentation-immunodeficiency with or without neurologic impairment syndrome Griscelli syndrome type 2 ciliary dyskinesia ciliary motility disorder dysmotile cilia syndrome ics - immotile cilia syndrome immotile cilia syndrome immotile ciliary syndrome kartagener syndrome kartagener's syndrome lack of coordinated beating of respiratory cilia pcd Primary ciliary dyskinesia JPLS juvenile PLS Juvenile primary lateral sclerosis intellectual disability, cataract, calcified pinna, myopathy syndrome intellectual disability-cataracts-calcified pinnae-myopathy syndrome Primrose syndrome baraitser syndrome mulvihill-smith syndrome progeria-short stature-pigmented nevi syndrome Progeroid short stature with pigmented nevi craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence dental and eye anomalies, patent ductus arteriosus, and normal intelligence fps gcms gorlin chaudhry moss syndrome petty syndrome petty-laxova-wiedemann syndrome progeroid syndrome congenital petty type progeroid syndrome petty type progeroid syndrome, petty type Fontaine progeroid syndrome antenatal varicella virus infection mother-to-child transmission of varicella syndrome Congenital varicella syndrome Acromelanosis chronic progressive external ophthalmoplegia [ambiguous] chronic progressive ophthalmoplegia cpeo - chronic progressive external ophthalmoplegia external ophthalmoplegia, progressive graefe's disease ophthalmoplegia, chronic progressive external peo - progressive external ophthalmoplegia Progressive external ophthalmoplegia dfnx2 nonsyndromic hearing loss and deafness X-linked mixed hearing loss with perilymphatic gusher atypical PSP syndrome Atypical progressive supranuclear palsy syndrome familial prolactinoma lactotroph adenoma pituitary adenoma, prolactin-secreting pituitary lactotrophic adenoma pituitary prolactin cell adenoma prl-secreting pituitary adenoma prloma prolactin-secreting pituitary adenoma Prolactin-producing pituitary gland adenoma pilar tumour proliferating pilar tumour proliferating trichilemmal tumour proliferating tricholemmal cyst proliferating tricholemmal tumour Proliferating trichilemmal cyst properdin deficiency properdin deficiency, type i properdin deficiency, x-linked, x-linked recessive Properdin deficiency, x-linked Aprosencephaly cerebellar dysgenesis Familial prostate carcinoma haptocorrin deficiency r-binder deficiency tci deficiency tcn1d transcobalamin-1 deficiency Transcobalamin i deficiency EPP Autosomal erythropoietic protoporphyria acc-abnormal genitalia syndrome agenesis of corpus callosum and abnormal genitalia syndrome agenesis of corpus callosum with abnormal genitalia corpus callosum agenesis, abnormal genitalia syndrome microcephaly, corpus callosum agenesis, abnormal genitalia syndrome microcephaly-corpus callosum agenesis-abnormal genitalia syndrome proud syndrome proud-levine-carpenter syndrome Corpus callosum agenesis-abnormal genitalia syndrome Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome sma Proximal spinal muscular atrophy pseudopelade Pseudopelade of brocq bifunctional peroxisomal enzyme deficiency dbif hsd17b4 deficiency D-bifunctional protein deficiency supernumerary pancreas Accessory pancreas pseudoachondroplastic dysplasia pseudoachondroplastic spondyloepiphyseal dysplasia sed syndrome Pseudoachondroplasia Pseudoachondroplastic dysplasia 2 acox1 deficiency acyl-coa oxidase deficiency acyl-coenzyme a oxidase deficiency peroxisomal acyl-coenzyme a oxidase pseudo-nald pseudo-neonatal adrenoleucodystrophy pseudo-neonatal adrenoleukodystrophy pseudoadrenoleukodystrophy Peroxisomal acyl-coa oxidase deficiency ASSA aminopterin syndrome-like sine aminopterin Pseudoaminopterin syndrome Verloes-Gillerot-Fryns syndrome pseudohermaphroditism-intellectual disability syndrome Disorder of sex development-intellectual disability syndrome autosomal recessive pha 1 autosomal recessive pha1 autosomal recessive pseudohypoaldosteronism type 1 generalised pha1 generalised pseudohypoaldosteronism type 1 generalized pha1 generalized pseudohypoaldosteronism type 1 pha1b pseudohypoaldosteronism, type i, recessive Pseudohypoaldosteronism, type ib1, autosomal recessive chloride shunt syndrome familial hyperkalemic hypertension hyperkalemia-hypertension syndrome, gordon type hypertensive hyperkalemia mineralocorticoid resistant hyperkalemia pha2 phaii pseudohypoaldosteronism, type ii spitzer-weinstein syndrome Pseudohypoaldosteronism, type 2 acro-oto-ocular syndrome pseudopapilledema, blepharophimosis and hand anomaly syndrome pseudopapilledema-blepharophimosis-hand anomalies syndrome pseudopapilloedema, blepharophimosis and hand anomaly syndrome Acrootoocular syndrome achalasia microcephaly achalasia-microcephaly syndrome Achalasia microcephaly syndrome benign intracran. hypt. bih - benign intracranial hypertension iih iih - idiopathic intracranial hypertension noninfective serous meningitis nonne's syndrome otitic hydrocephalus syndrome Benign intracranial hypertension khalifa graham syndrome khalifa-graham syndrome pterygium colli and impaired intellectual development with facial and digital anomalies pterygium colli with intellectual disability and digital anomaly syndrome Pterygium colli-intellectual disability-digital anomalies syndrome autosomal dominant pterygium of conjunctiva pterygium of conjunctiva familial form Familial pterygium of the conjunctiva 2a syndrome 3a syndrome 4a syndrome aaa syndrome achalasia-addisonian syndrome achalasia-addisonianism-alacrima (triple-a) syndrome achalasia-addisonianism-alacrima syndrome achalasia-addisonianism-alacrimia syndrome adrenal insufficiency-achalasia-alacrima syndrome alacrimia-achalasia-addisonianism double a syndrome quaternary a syndrome triple-a syndrome Glucocorticoid deficiency with achalasia pterygium cubitale webbed elbow Antecubital pterygium syndrome lethal multiple pterygium syndrome, X-linked X-linked lethal multiple pterygium syndrome McPherson-Hall syndrome Ptosis-strabismus-ectopic pupils syndrome Spondylometaphyseal dysplasia, a4 type congenital pap congenital pulmonary alveolar proteinosis genetic disorder of surfactant dysfunction inborn error of pulmonary surfactant metabolism inborn error of surfactant metabolism pulmonary surfactant metabolism dysfunction Hereditary pulmonary alveolar proteinosis abnormal origin of right or left pulmonary artery from the aorta anomalous origin of pulmonary artery from ascending aorta hemitruncus arteriosus origin of pulmonary artery from ascending aorta pulmonary artery origin from ascending aorta Pulmonary artery coming from the aorta pavsd - pulmonary atresia with ventricular septal defect Pulmonary atresia with ventricular septal defect branch pulmonary artery stenosis congenital peripheral pulmonary artery stenosis pulmonary artery stenosis, branch (not pps) Pulmonary branch stenosis bronchopulmonary sequestration congenital bronchopulmonary sequestration congenital sequestration of lung pulmonary sequestration sequestered lobe (pulmonary sequestration) Congenital pulmonary sequestration supravalvar pulmonary stenosis supravalvar pulmonnic stenosis supravalvular pulmonic stenosis Supravalvular pulmonary stenosis absent pulmonary valve syndrome apvs - absent pulmonary valve syndrome congenital absence of the pulmonary valve pva Pulmonary valve agenesis Congenital pulmonary veins atresia or stenosis anomalous pulmonary venous connection anomalous pulmonary venous drainage apvc - anomalous pulmonary venous connection apvd - anomalous pulmonary venous drainage congenital pulmonary venous connection anomaly Congenital pulmonary venous return anomaly achondrogenesis Fraccaro type achondrogenesis Ib achondrogenesis, Parenti-Fraccaro type Achondrogenesis type IB paiv - pulmonary atresia with intact ventricular septum pulmonary atresia-intact ventricular septum syndrome Pulmonary atresia with intact ventricular septum Punctate acrokeratoderma freckle-like pigmentation deficiency of inosine phosphorylase deficiency of purine-nucleoside phosphorylase immunodeficiency due to purine nucleoside phosphorylase deficiency np - nucleoside phosphorylase deficiency np deficiency pnp - purine nucleoside phosphorylase deficiency pnpase deficiency Purine nucleoside phosphorylase deficiency acquired adamts13 deficiency acquired thrombotic thrombocytopenic purpura (ttp) acquired ttp attp autoimmune thrombotic thrombocytopenic purpura immune-mediated thrombotic thrombocytopenic purpura ittp thrombotic thrombocytopenic purpura due to anti-adamts-13 antibodies Acquired thrombotic thrombocytopenic purpura camera syndrome Pyknoachondrogenesis maroteaux-lamy pyknodysostosis syndrome maroteaux-lamy syndrome ii stanesco's dysostosis syndrome Pyknodysostosis bakwin-krida syndrome metaphyseal dysostosis metaphyseal dysplasia, pyle type pyle disease pyle's disease pyle's syndrome pyle-cohn syndrome Pyle metaphyseal dysplasia myositis purulenta tropica myositis tropicans pm tropical myositis tropical pyomyositis Pyomyositis hpp - hereditary pyropoikilocytosis pyropoikilocytosis Pyropoikilocytosis, hereditary pdhad pyruvate dehydrogenase complex e1 component subunit alpha deficiency pyruvate dehydrogenase e1-alpha deficiency, x-linked dominant x-linked leigh syndrome Pyruvate dehydrogenase e1-alpha deficiency Radial defect robin sequence goldblatt viljoen syndrome goldblatt-viljoen syndrome radial ray hypoplasia-choanal atresia syndrome Choanal atresia with radial ray hypoplasia bcor-related lenz microphthalmia syndrome cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome microphthalmia syndromic 2 microphthalmia, cataract, radiculomegaly and septal heart defect microphthalmia, syndromic 2, x-linked dominant microphthalmia, syndromic type 2 oculo-facio-cardio-dental syndrome oculofaciocardiodental syndrome ofcd syndrome syndromic microphthalmia 2 Microphthalmia, syndromic 2 Absent radius-anogenital anomalies syndrome cdg iic cdg syndrome type iic cdg-iic cdg2c congenital disorder of glycosylation type 2c lad - leukocyte adhesion deficiency type 2 lad-ii lad2 leukocyte adhesion deficiency - type 2 leukocyte adhesion deficiency, type ii leukocyte adhesion molecule deficiency - type 2 rambam hasharon syndrome rambam-hasharon syndrome rhs slc35c1-cdg Leukocyte adhesion deficiency type ii Rambaud-Gallian syndrome Rambaud-Gallian-Touchard syndrome retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome Vascular hyalinosis corneal anesthesia, deafness, intellectual disability syndrome corneal anesthesia-deafness-intellectual disability syndrome corneal anesthesia-hearing loss-intellectual disability syndrome ramos arroyo syndrome Ramos-arroyo syndrome rapadilino - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence Rapadilino syndrome Rasmussen-Johnsen-Thomsen syndrome External auditory canal atresia-vertical talus-hypertelorism syndrome congenital ichthyosis, mental retardation, dwarfism and renal impairment ichthyosis mental retardation dwarfism renal impairment passwell goodman ziprkowski syndrome passwell-goodman-siprkowski syndrome Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome ataxia-deafness-intellectual disability syndrome ataxia-hearing loss-intellectual disability syndrome reardon-baraitser syndrome Ataxia - deafness - intellectual disability syndrome algodystrophy complex regional pain syndromes crps - complex regional pain syndrome Complex regional pain syndrome isovaleric acid-coa dehydrogenase deficiency isovaleric aciduria isovaleryl-coa dehydrogenase deficiency isovaleryl-coenzyme a dehydrogenase deficiency ivd-gene related isovaleryl-coenzyme a dehydrogenase deficiency Isovaleric acidemia renal caliceal diverticuli and deafness syndrome renal caliceal diverticuli-hearing loss syndrome Renal caliceal diverticuli-deafness syndrome Renal-genital-middle ear anomalies goldston syndrome meckel syndrome type 7 meckel-gruber syndrome, type 7 meckel-like syndrome type 1 mks7 nephrocystin 3-related meckel-like syndrome nphp3 (nephrocystin 3) related meckel-like syndrome nphp3-related meckel syndrome renal, hepatic, pancreatic dysplasia, dandy-walker cysts syndrome renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome NPHP3-related Meckel-like syndrome AR dRTA autosomal recessive distal RTA autosomal recessive distal renal tubular acidosis (disease) distal renal tubular acidosis (disease), autosomal recessive Autosomal recessive distal renal tubular acidosis albright's renal tubular acidosis classic distal renal tubular acidosis classic rta distal renal tubular acidosis (disease) drta familial distal primary acidosis primary distal renal tubular acidosis renal tubular acidosis type 1 renal tubular acidosis, type i rta (renal tubular acidosis) type i Distal renal tubular acidosis ad drta autosomal dominant distal renal tubular acidosis (disease) distal renal tubular acidosis (disease), autosomal dominant distal renal tubular acidosis 1 drta1 renal tubular acidosis, distal, 1 Autosomal dominant distal renal tubular acidosis hyperglycinemia with ketosis and leukopenia ketotic glycinemia ketotic hyperglycinemia ketotic ii glycinemia pcc - propionyl-coa carboxylase deficiency propionic aciduria Propionic acidemia X-linked retinal dysplasia retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome Retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome rhe (retinohepatoendocrinologic) syndrome Retinohepatoendocrinologic syndrome ackerman fused molar rooth syndrome ackerman fused molar roots syndrome pyramidal molar-glaucoma-upper abnormal lip syndrome pyramidal molars-abnormal upper lip syndrome Ackerman syndrome X-linked juvenile retinoschisis X-linked juvenile retinoschisis type 1 XLRS juvenile X-linked retinoschisis retinoschisis, X-linked retinoschisis, X-linked recessive X-linked retinoschisis Rett syndrome variant atypical RTT Atypical rett syndrome dkca5 dyskeratosis congenita with bilateral exudative retinopathy dyskeratosis congenita, autosomal dominant 5 retinopathy, anemia, central nervous system anomalies syndrome retinopathy-anemia-central nervous system anomalies syndrome revesz debuse syndrome revesz-debuse syndrome Revesz syndrome primary biliary cirrhosis and systemic scleroderma primary biliary cirrhosis co-occurrent with systemic scleroderma Reynolds syndrome bilirubin glucuronosyltransferase deficiency bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 bilirubin-ugt deficiency type 1 crigler-najjar syndrome type i crigler-najjar syndrome, type 1 crigler-najjar syndrome, type i crigler-najjar type 1 deficiency of glucuronosyltransferase glucuronyltransferase deficiency hereditary unconjugated hyperbilirubinemia type 1 hyperbilirubinemia, crigler-najjar type 1 hyperbilirubinemia, crigler-najjar type i udp glucuronyl transferase deficiency ugt deficiency type 1 Crigler-Najjar syndrome type 1 alveolar childhood rhabdomyosarcoma alveolar rhabdomyosarcoma (disease) alveolar rhabdomyosarcoma (morphologic abnormality) arms paediatric alveolar rhabdomyosarcoma pediatric alveolar rhabdomyosarcoma rhabdomyosarcoma 2, alveolar, somatic mutation rhabdomyosarcoma type 2 rhabdomyosarcoma, alveolar, somatic mutation Alveolar rhabdomyosarcoma ERMS embryonal rhabdomyosarcoma (disease) rhabdomyosarcoma, embryonal, type 1 rhabdomyosarcoma, somatic Embryonal rhabdomyosarcoma rhizomelic dysplasia of patterson lowry type Rhizomelic dysplasia, patterson-lowry type forestier-certonciny syndrome pmr - polymyalgia rheumatica senile arthritis Polymyalgia rheumatica Rhizomelic syndrome, urbach type myotonia, intellectual disability, skeletal anomalies syndrome myotonia-intellectual disability-skeletal anomalies syndrome Richieri Costa-da Silva syndrome robin sequence with cleft mandible and limb anomalies syndrome short stature, pierre robin sequence, cleft mandible, hand anomalies, clubfoot syndrome short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome Richieri Costa-Pereira syndrome Isolated right ventricular hypoplasia monosomy 8q22.1 8q22.1 microdeletion syndrome rigid spine congenital muscular dystrophy rss Rigid spine syndrome Ring chromosome type 17 Ring chromosome 17 Pierre Robin sequence-oligodactyly syndrome Robin sequence-oligodactyly syndrome autosomal dominant deafness with onychodystrophy syndrome autosomal dominant hearing loss, onychodystrophy syndrome autosomal dominant hearing loss-onychodystrophy syndrome ddod (dominant deafness onychodystrophy) syndrome deafness-onychodystrophy syndrome, autosomal dominant Autosomal dominant deafness - onychodystrophy syndrome roch leri mesosomatous lipomatosis Roch-Leri mesosomatous lipomatosis mayer rokitansky küster hauser syndrome type 1 mayer-rokitansky-kuster-hauser syndrome type 1 mrkh mrkh (mayer rokitansky küster hauser) syndrome type 1 mrkh syndrome type 1 Mayer Rokitansky Kuster Hauser syndrome type 1 Rombo syndrome Rommen-Mueller-Sybert syndrome Short stature-heart defect-craniofacial anomalies syndrome Rosenberg-Lohr syndrome Ulna metaphyseal dysplasia syndrome hereditary areflexic dystasia, roussy-levy type hereditary areflexic dystasia, roussy-lévy type hereditary ataxia-muscular atrophy syndrome roussy levy syndrome roussy lévy syndrome roussy-levy disease roussy-levy syndrome Roussy-Lévy syndrome rubella virus caused disease or disorder rubella virus disease or disorder rubella virus infectious disease three-day measles Rubella crs fetal rubella syndrome foetal rubella syndrome gestational rubella syndrome gregg's syndrome mother-to-child transmission of rubella syndrome rubella congenital rubella, congenital Congenital rubella syndrome Ruvalcaba syndrome congenital sacral meningocele with conotruncal heart defect syndrome sacral meningocele-conotruncal heart defects syndrome Kousseff syndrome cos - childhood-onset schizophrenia veos - very early-onset schizophrenia very early-onset schizophrenia Childhood-onset schizophrenia neurilemoma neurinoma peripheral fibroblastoma psammomatous schwannoma schwann cell tumor schwann cell tumour schwannoma, benign schwannomas Schwannoma neurofibromatosis type 3 nf3 Schwannomatosis congenita hypotonic - sclerotic muscular dystrophy scleroatonic muscular dystrophy scleroatonic ullrich disease ucmd ullrich muscular dystrophy ullrich scleroatonic muscular dystrophy Ullrich congenital muscular dystrophy cortical hyperostosis-syndactyly syndrome Sclerosteosis 3-ketoacid coa transferase deficiency oxct1 deficiency succinyl coa:3-oxoacid coa transferase deficiency succinyl-coa 3-ketoacid transferase deficiency succinyl-coa acetoacetate transferase deficiency succinyl-coa:3-oxoacid coa transferase deficiency succinyl-coenzyme a acetoacetate transferase deficiency thioacyl transferase deficiency Succinyl-coa:3-ketoacid coa transferase deficiency Faciodigitogenital syndrome craniodigital syndrome-intellectual disability syndrome scott craniodigital syndrome scott-bryant-graham syndrome Craniodigital syndrome and intellectual disability syndrome bdplt7 bleeding abnormality due to deficiency of platelet biding of factor x bleeding abnormality due to deficiency of platelet binding of factor x familial prothrombin consumption inhibitor familial prothrombin conversion defect platelet-type bleeding disorder 7 prothrombin consumption deficiency scts Scott syndrome Seaver-Cassidy syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome rhda1 urogenital adysplasia, hereditary Renal hypodysplasia/aplasia 1 seminoma testis seminomatous germ cell tumor of testis seminomatous germ cell tumour of testis testicular seminoma (disease) testicular seminomatous germ cell tumor testicular seminomatous germ cell tumour testis seminoma Testicular seminoma cytochrome c oxidase deficiency cytochrome-c oxidase deficiency cytochrome-c oxidase deficiency disease isolated cox (cytochrome c oxidase) deficiency isolated cox deficiency isolated mitochondrial respiratory chain complex iv deficiency mitochondrial complex iv deficiency Mitochondrial complex IV deficiency, nuclear-type split hand and split foot with mandibular hypoplasia split hand and split foot with mandibular hypoplasia syndrome split hand/split foot-mandibular hypoplasia syndrome Acro-renal-mandibular syndrome Shapiro syndrome episodic spontaneous hypothermia Spontaneous periodic hypothermia bacillary dysentery infection by shigella infection caused by shigella shigella gastroenteritis Shigellosis acads - short chain acyl-coenzyme a dehydrogenase deficiency deficiency of butyryl dehydrogenase deficiency of butyryl-coa dehydrogenase deficiency of unsaturated acyl-coa reductase scad scad - short chain acyl-coa dehydrogenase deficiency scad deficiency, mild scadd short chain acyl coa dehydrogenase deficiency short chain acyl-coenzyme a dehydrogenase deficiency Short chain acyl-coa dehydrogenase deficiency dysplastic cortical hyperostosis, Al-Gazali type Lethal short-limb skeletal dysplasia, al gazali type beemer-langer syndrome beemer-langer type short rib polydactyly syndrome short rib polydactyly syndrome, beemer-langer type short rib-polydactyly syndrome type 4 srps iv Type IV short rib polydactyly syndrome short rib-polydactyly syndrome type 2 srps, type ii Short rib-polydactyly syndrome, majewski type mievis verellen dumoulin syndrome mievis-verellen-dumoulin syndrome short stature brussels type Short stature, brussels type acro-fronto-facio-nasal dysostosis affn dysostosis richieri costa colletto syndrome richieri-costa-colletto syndrome Acrofrontofacionasal dysostosis short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome short stature-deafness-neutrophil dysfunction-dysmorphism syndrome short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome thong-douglas-ferrante syndrome Thong Douglas Ferrante syndrome short stature, wormian bones, dextrocardia syndrome Short stature-wormian bones-dextrocardia syndrome marfanoid craniosynostosis syndrome sgs shprintzen goldberg craniosynostosis syndrome shprintzen goldberg syndrome Shprintzen-Goldberg syndrome metaphyseal chondrodysplasia with pancreatic insufficiency and neutropenia metaphyseal chondrodysplasia, shwachman type metaphyseal dysplasia with malabsorption and neutropenia pancreatic insufficiency and bone marrow dysfunction schwachman's syndrome schwachman-bodian syndrome schwachman-diamond syndrome schwachmann-diamond syndrome sds shwachman diamond syndrome shwachman's syndrome Shwachman-Diamond syndrome sialuria, French type Sialuria Siegler-Brewer-Carey syndrome brachydactyly and distal symphalangism syndrome brachydactyly-symphalangism syndrome Sillence syndrome russell silver syndrome russell's syndrome silver russell dwarfism silver russell syndrome silver syndrome srs Russell-Silver syndrome blepharophimosis, telecanthus, microstomia syndrome blepharophimosis-telecanthus-microstomia syndrome flat face, microstomia, ear anomaly syndrome simosa penchaszadeh bustos syndrome simosa-penchaszadeh-bustos syndrome Flat face-microstomia-ear anomaly syndrome only one upper front tooth single central incisor single central incisor syndrome single central upper incisor single maxillary central incisor single median incisor single median maxillary central incisor single median maxillary incisor single midline maxillary incisor single midline upper front tooth single upper central incisor smmci solitary midline maxillary central incisor Solitary median maxillary central incisor syndrome PFHB2 Progressive familial heart block type II Sinus node disease and myopia men (multiple endocrine neoplasia) type 2a men 2a men2a men2a - multiple endocrine neoplasia type 2a multiple endocrine neoplasia ii multiple endocrine neoplasia iia Multiple endocrine neoplasia type 2a all organs on wrong side of body complete situs inversus complete situs inversus viscerum complete transposition (morphologic abnormality) laterality sequence situs inversus totalis situs inversus totalis (disease) situs oppositus situs transversus Situs inversus Mononen type brachydactyly short and abducted thumbs and great toes skeletal dysplasia-brachydactyly syndrome Mononen-Karnes-Senac syndrome h-smd hypomyelination-spondyloepimetaphyseal dysplasia syndrome leukoencephalopathy-metaphyseal chondrodysplasia syndrome leukoencephalopathy-semd syndrome leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy, x-linked recessive Spondyloepimetaphyseal dysplasia, Bieganski type connective tissue sarcoma malignant mesenchymal tumor malignant mesenchymal tumour non-rhabdo. soft tissue sarcoma soft part sarcoma soft tissue sarcomas Soft tissue sarcoma Sohval-Soffer syndrome Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome arcl3a cutis laxa-corneal clouding-intellectual disability syndrome cutis laxa-corneal clouding-oligophrenia syndrome de barsey syndrome de barsey-moens-dierckx syndrome progeroid syndrome of de barsey De barsy syndrome delta cell tumour somatostatin cell neoplasm somatostatin cell tumour somatostatin producing tumour somatostatin-producing neuroendocrine tumour somatostatin-producing tumour tumour of delta cells tumour of the delta cells Somatostatinoma congenital heart defect with round face and developmental delay syndrome sonoda syndrome Congenital heart defect-round face-developmental delay syndrome cervical dystonia congenital torticollis contracture of neck fibromatosis colli inherited torticollis inherited torticollis (disease) loxia spasmodic torticollis wry neck Torticollis acrodysplasia scoliosis brachydactyly, scoliosis, carpal fusion syndrome brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis brachydactyly-scoliosis-carpal fusion syndrome prata liberal goncalves syndrome Prata-Liberal-Goncalves syndrome arsacs arsacs - autosomal recessive spastic ataxia of charlevoix-saguenay autosomal recessive spastic ataxia type 6 spax6 Charlevoix-saguenay spastic ataxia autosomal recessive juvenile amyotrophic lateral sclerosis iahsp iahsp - infantile onset ascending hereditary spastic paralysis infantile ascending hereditary spastic paralysis Infantile-onset ascending hereditary spastic paralysis spastic paraplegia, epilepsy, and impaired intellectual development Spastic paraplegia-epilepsy-intellectual disability syndrome Spastic paraplegia-precocious puberty syndrome autosomal recessive hereditary spastic paraplegia, mental impairment, and thin corpus callosum autosomal recessive spastic paraplegia 11 autosomal recessive spastic paraplegia complicated with thin corpus callosum autosomal recessive spastic paraplegia type 11 autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum hereditary spastic paraplegia caused by mutation in spg11 hereditary spastic paraplegia type 11 hsp-tcc nakamura-osame syndrome spastic paraplegia, mental retardation and thin corpus callosum spastic paraplegia-intellectual disability-thin corpus callosum syndrome spg11 spg11 hereditary spastic paraplegia spg11-related hereditary spastic paraplegia with thin corpus callosum Hereditary spastic paraplegia 11 Antinolo-Nieto-Borrego syndrome Spastic paraplegia-neuropathy-poikiloderma syndrome autosomal recessive complex spastic paraplegia caused by mutation in erlin2 autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 erlin2 autosomal recessive complex spastic paraplegia hereditary spastic paraplegia type 18 intellectual disability, motor dysfunction and joint contractures spastic paraplegia 18b, autosomal recessive spg18 spg18b Hereditary spastic paraplegia 18 PLP1 hereditary spastic paraplegia SPG2 X-linked spastic paraplegia 2 X-linked spastic paraplegia type 2 hereditary spastic paraplegia caused by mutation in PLP1 hereditary spastic paraplegia type 2 spastic gait type 2 spastic paraparesis type 2 spastic paraplegia 2, X-linked, X-linked recessive spastic paraplegia type 2 Hereditary spastic paraplegia 2 autosomal recessive spastic paraplegia 39 autosomal recessive spastic paraplegia type 39 hereditary spastic paraplegia caused by mutation in pnpla6 hereditary spastic paraplegia type 39 nte-related motor neuron disorder ntemnd pnpla6 hereditary spastic paraplegia spastic paraplegia due to neuropathy target esterase mutation spastic paraplegia due to nte (neuropathy target esterase) mutation spastic paraplegia due to nte mutation spg39 Hereditary spastic paraplegia 39 SPAST hereditary spastic paraplegia SPG4 autosomal dominant spastic paraplegia 4 autosomal dominant spastic paraplegia type 4 hereditary spastic paraplegia caused by mutation in SPAST hereditary spastic paraplegia type 4 Hereditary spastic paraplegia 4 CYP7B1 pure or complex autosomal recessive spastic paraplegia SPG5A autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A hereditary spastic paraplegia type 5A pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1 spastic paraplegia type 5B, recessive Hereditary spastic paraplegia 5A autosomal recessive spastic paraplegia 7 autosomal recessive spastic paraplegia type 7 hereditary spastic paraplegia caused by mutation in spg7 hereditary spastic paraplegia type 7 spastic paraplegia type 7 spg7 spg7 hereditary spastic paraplegia Hereditary spastic paraplegia 7 FSP3 NIPA1 hereditary spastic paraplegia SPG6 autosomal dominant familial spastic paraplegia type 3 autosomal dominant spastic paraplegia 6 autosomal dominant spastic paraplegia type 6 hereditary spastic paraplegia caused by mutation in NIPA1 hereditary spastic paraplegia type 6 Hereditary spastic paraplegia 6 Spastic paraplegia-glaucoma-intellectual disability syndrome spastic quadriplegia, retinitis pigmentosa, and impaired intellectual development spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome brachydactyly-spherophakia syndrome brachymorphy with spherophakia syndrome congenital mesodermal dystrophy marchesani's syndrome marchesani-weill syndrome mesodermal dysmorphodystrophy, congenital spherophakia brachymorphia syndrome spherophakia-brachymorphia syndrome weill marchesani syndrome Weill-Marchesani syndrome Juvenile neuronal ceroid lipofuscinosis opitz caltabiano syndrome opitz mollica sorge syndrome opitz-caltabiano syndrome Acrofacial dysostosis, catania type spina bifida and hypospadias syndrome Spina bifida-hypospadias syndrome hamano-tsukamoto syndrome spinal atrophy, ophthalmoplegia, pyramidal syndrome Spinal atrophy-ophthalmoplegia-pyramidal syndrome chronic infantile spinal muscular atrophy chronic spinal muscular atrophy intermediate spinal muscular atrophy late infantile spinal muscular atrophy muscular atrophy, spinal, infantile chronic form sma type 2 sma type ii sma-ii sma2 spinal muscular atrophy-2 Spinal muscular atrophy, type ii SMABF1 TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4 spinal muscular atrophy with congenital bone fractures type 1 spinal muscular atrophy, type I, with congenital bone fractures Spinal muscular atrophy with congenital bone fractures 1 SCA30 Spinocerebellar ataxia type 30 autosomal recessive cerebellar ataxia-movement disorder syndrome scar4 scasi Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome SCA5 Spinocerebellar ataxia type 5 autosomal recessive spinocerebellar ataxia type 6 infantile-onset autosomal recessive non progressive cerebellar ataxia scar6 scar6 - autosomal recessive spinocerebellar ataxia type 6 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia SCA8 Spinocerebellar ataxia type 8 Spinocerebellar ataxia-dysmorphism syndrome acrofacial dysostosis, syndrome of Rodriguez Acrofacial dysostosis Rodriguez type sgfld (splenogonadal fusion limb defect syndrome) syndrome splenogonadal fusion, limb defect, micrognathia syndrome Splenogonadal fusion-limb defects-micrognathia syndrome karsch neugebauer syndrome split hand/split foot-nystagmus syndrome Karsch-neugebauer syndrome czeizel losonci syndrome split hand with obstructive uropathy, spina bifida and diaphragmatic defects split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome split hand, urinary anomalies, spina bifida syndrome split hand-urinary anomalies-spina bifida syndrome Czeizel-Losonci syndrome acrofacial dysostosis weyers type acrofacial dysostosis, weyers type weyers acrodental dysostosis weyers acrofacial dysostosis Curry-Hall syndrome spondylar and nasal alterations-striated metaphyses syndrome spondylar and nasal changes with striations of the metaphyses (sponastrime) dysplasia spondylar and nasal changes with triations of the metaphyses (sponastrime) dysplasia Sponastrime dysplasia Spondylocamptodactyly syndrome SCT Synspondylism congenital scoliosis with unilateral unsegmented bar congenital synspondylism spondylocarpotarsal syndrome spondylocarpotarsal synostosis vertebral fusion with carpal coalition Spondylocarpotarsal synostosis syndrome combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia roifman immunoskeletal syndrome roifman-costa syndrome spencd spondyloenchondrodysplasia spondyloenchondrodysplasia with or without immune dysregulation spondyloenchondromatosis spondylometaphyseal dysplasia with enchondromatous changes Spondyloenchondrodysplasia with immune dysregulation spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive X-linked spondyloepimetaphyseal dysplasia NAFD Nager acrofacial dysostosis syndrome acrofacial dysostosis 1, Nager type mandibulofacial dysostosis with preaxial limb anomalies nager syndrome preaxial acrodysostosis Nager acrofacial dysostosis SEMD, Shohat type Spondyloepimetaphyseal dysplasia, shohat type semdjl Spondyloepimetaphyseal dysplasia with joint laxity immunoosseous dysplasia schimke type schimke syndrome spondyloepiphyseal dysplasia - nephrotic syndrome spondyloepiphyseal dysplasia-nephrotic syndrome Schimke immuno-osseous dysplasia sedt - spondyloepiphyseal dysplasia tarda spondyloepiphyseal dysplasia tarda, x-linked recessive Spondyloepiphyseal dysplasia tarda, x-linked sed - spondyloepiphyseal dysplasia sed congenita sedc sedc - spondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia congenita group spondyloepiphyseal dysplasia, congenital spondyloepiphyseal dysplasia, congenital type spranger-wiedemann disease Spondyloepiphyseal dysplasia congenita acrofacial dysostosis, patagonia type palagonia type of acrofacial dysostosis Acrofacial dysostosis, palagonia type spondylometaphyseal dysplasia, 'corner fracture' type spondylometaphyseal dysplasia, sutcliffe type Spondylometaphyseal dysplasia - Sutcliffe type Spondylometaphyseal dysplasia, east african type Spondylometaphyseal dysplasia, sedaghatian type spondyloperipheral dysplasia-short ulna syndrome Spondyloperipheral dysplasia Familial spontaneous pneumothorax disseminated sebocystomatosis hereditary epidermal polycystic disease sebocystomatosis Steatocystoma multiplex Steatocystoma multiplex-natal teeth syndrome acromegaloid facial appearance Acromegaloid facial appearance syndrome bifid sternum bipartite sternum cleft sternum sternoschisis sternum bifidum Sternal cleft lyngstadaas syndrome steroid dehydrogenase deficiency and dental anomaly syndrome Steroid dehydrogenase deficiency-dental anomalies syndrome ad osmed autosomal dominant otospondylomegaepiphyseal dysplasia col11a2 stickler syndrome col11a2-related stickler syndrome heterozygous osmed heterozygous otospondylomegaepiphyseal dysplasia osmed, heterozygous osmeda piere-robin syndrome pierre robin malformation pierre robin sequence-fetal chondrodysplasia syndrome pierre robin syndrome with fetal chondrodysplasia pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly pierre robin syndrome with foetal chondrodysplasia pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type, formerly pierre robin syndrome-fetal chondrodysplasia syndrome stickler syndrome caused by mutation in col11a2 stickler syndrome type 3 stickler syndrome, non-ocular type stickler syndrome, type 3 stickler syndrome, type iii stickler syndrome, type iii, formerly stl3 weissenbacher-zweymuller syndrome wzs Otospondylomegaepiphyseal dysplasia, autosomal dominant gamma neuron overactivity syndrome moersch-woltman syndrome stiff man syndrome stiff person spectrum disorder Stiff-person syndrome Stiff skin syndrome alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Stimmler syndrome Stoelinga-de Koomen-Davis syndrome Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome arthrogryposis and ectodermal dysplasia syndrome arthrogryposis, ectodermal dysplasia, other anomalies syndrome arthrogryposis-ectodermal dysplasia syndrome stoll alembik finck syndrome stoll-alembik-finck syndrome Arthrogryposis-ectodermal dysplasia-other anomalies syndrome alpha dense granule deficiency combined alpha-delta platelet storage pool deficiency delta storage pool disease dense body defect dense body deficiency nucleotide storage pool disorder platelet dense granule deficiency platelet storage organelle defect platelet storage pool defect platelet storage pool deficiency storage pool deficiency Storage pool disease of platelets brachydactyly, mesomelia, intellectual disability, heart defect syndrome stratton garcia young syndrome stratton-garcia-young syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome smdalg spondylometaphyseal dysplasia with severe genu valgum spondylometaphyseal dysplasia, algerian type Spondylometaphyseal dysplasia, schmidt type IBSN infantile striatonigral degeneration infantile striatonigral necrosis Infantile bilateral striatal necrosis atl1 hereditary spastic paraplegia autosomal dominant familial spastic paraplegia 1 autosomal dominant spastic paraplegia 3 autosomal dominant spastic paraplegia type 3 fsp1 hereditary spastic paraplegia caused by mutation in atl1 hereditary spastic paraplegia type 3a spastic paraplegia 3a, autosomal dominant spg3a strümpell disease Hereditary spastic paraplegia 3A neonatal schwartz-jampel syndrome schwartz-jampel syndrome neonatal schwartz-jampel syndrome type 2 schwartz-jampel syndrome, neonatal sjs2 stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome stüve-wiedemann dysplasia stüve-wiedemann/schwartz-jampel type 2 syndrome Stüve-Wiedemann syndrome 1 4-layered lissencephaly four-layered lissencephaly lissencephaly type 1 lissencephaly, type i type 1 lissencephaly type i lissencephaly Classic lissencephaly Acromesomelic dysplasia, Campailla Martinelli type Subependymal nodular heterotopia infundibular pulmonary stenosis infundibular pulmonic stenosis subvalvar pulmonary stenosis subvalvar pulmonic stenosis subvalvular pulmonary stenosis subvalvular pulmonic stenosis Subpulmonary stenosis narrowing of blood vessel below aortic heart valve subaortic stenosis subvalvar stenosis subvalvular aortic stenosis, eisenberg type subvalvular stenosis Subvalvular aortic stenosis isolated mitochondrial respiratory chain complex ii deficiency isolated succinate dehydrogenase deficiency isolated succinate-coenzyme q reductase deficiency isolated succinate-coq reductase deficiency isolated succinate-ubiquinone reductase deficiency mitochondrial complex ii deficiency mitochondrial respiratory chain complex ii deficiency, sdha-related mitochondrial respiratory chain complex ii deficiency, sdhaf1-related Mitochondrial complex ii deficiency, nuclear type 1 sugarman hager kulik syndrome sugarman-hager-kulik syndrome Sugarman brachydactyly acromesomelic dwarfism acromesomelic dysplasia hunter-thompson type acromesomelic dysplasia, hunter-thompson type hunter-thompson dysplasia Acromesomelic dysplasia 2C, Hunter-Thompson type juvenile sulfatidosis, austin type msd sulfatidosis, juvenile, austin type Mucosulfatidosis ISOD sulfite oxidase deficiency sulfite oxidase deficiency, isolated sulfocysteinuria Isolated sulfite oxidase deficiency 46 xy gonadal dysgenesis 46, xy cgd 46, xy complete gonadal dysgenesis 46, xy pure gonadal dysgenesis 46,xy cgd 46,xy complete gonadal dysgenesis 46,xy gonadal dysgenesis 46,xy pure gonadal dysgenesis 46,xy sex reversal swyer syndrome Pure gonadal dysgenesis 46,XY acromesomelic dysplasia 1 acromesomelic dysplasia, maroteaux type amd1 Acromesomelic dysplasia 1, Maroteaux type bilateral symmetrical thalamic gliosis symmetrical thalamic calcification Symmetrical thalamic calcifications distal symphalangism (disease) Distal symphalangism learman syndrome symphalangism with multiple anomalies of hands and feet syndrome Symphalangism with multiple anomalies of hands and feet acrodentoosteodysplasia acroosteolysis dominant type acroosteolysis with osteoporosis and changes in skull and mandible arthro-dento-osteo dysplasia arthrodentoosteodysplasia cheney syndrome hajdu cheney syndrome hajdu-cheney syndrome-notch2 serpentine fibula polycystic kidney syndrome serpentine fibula-polycystic kidney syndrome serpentine fibula-polycystic kidneys syndrome Hajdu-Cheney syndrome syndactyly, type 1, with or without craniosynostosis syndactyly, type i zygodactyly 2 Syndactyly type 1 cenani lenz syndactyly cenani lenz syndrome cenani syndactyly cenani-lenz syndactyly syndactyly type 7 syndactyly, type vii Cenani-lenz syndactyly syndrome polysyndactyly syndactyly type 2 Synpolydactyly gja1 non-syndromic syndactyly non-syndromic syndactyly caused by mutation in gja1 sd3 syndactyly of fingers 4 and 5 syndactyly of fingers iv and v Syndactyly type 3 SD5 postaxial syndactyly with metacarpal synostosis Syndactyly type 5 Syndactyly-polydactyly-ear lobe syndrome Syngnathia-cleft palate syndrome dobrow syndrome syngnathia, multiple anomalies syndrome syngnathia-multiple anomalies syndrome Syngnathia multiple anomalies fistulous vegetative verrucous hydradenoma naevus syringocystadenomatosus papilliferus nevus syringocystadenomatosus papilliferus papillary syringadenoma papillary syringadenoma (morphologic abnormality) papillary syringadenoma (syringocystadenoma papilliferum) papillary syringocystadenoma scap syringadenoma syringadenoma papilliferum Syringocystadenoma papilliferum carnitine deficiency carnitine deficiency, systemic carnitine transporter defect cdsp cud deficiency of plasma-membrane carnitine transporter renal carnitine transport defect spcd Systemic primary carnitine deficiency disease systemic vasculitis Necrotizing vasculitis Berk-Tabatznik syndrome Acropectororenal dysplasia 1q21.1 susceptibility locus for thrombocytopenia-absent radius (tar) syndrome tar - thrombocytopenia with absent radius syndrome thrombocytopenia with absent radii (tar) syndrome thrombocytopenia with absent radius syndrome thrombocytopenia-absent radii syndrome Thrombocytopenia-absent radius syndrome Taurodontia-absent teeth-sparse hair syndrome F syndrome Acropectorovertebral dysplasia microcephalic osteodysplastic primordial dwarfism taybi linder type microcephalic osteodysplastic primordial dwarfism, taybi-linder type mopd types i and iii primordial microcephalic dwarfism crachami type primordial microcephalic dwarfism, crachami type taybi linder syndrome Microcephalic osteodysplastic primordial dwarfism types i and iii OPD 1 syndrome OPD I syndrome OPD syndrome 1 OPD1 Taybi syndrome oto-palato-digital syndrome type 1 otopalatodigital syndrome, type 1 otopalatodigital syndrome, type I otopalatodigital syndrome, type I, X-linked dominant Oto-palato-digital syndrome, type I Teebi-Kaurah syndrome Anonychia-microcephaly syndrome aarskog-like syndrome autosomal recessive facio-digito-genital syndrome facio-digito-genital syndrome kuwait type facio-digito-genital syndrome, kuwait type teebi naguib alawadi syndrome teebi-naguib-alawadi syndrome Autosomal recessive faciodigitogenital syndrome Teebi-shaltout syndrome Trigonocephaly-bifid nose-acral anomalies syndrome camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome Tel hashomer camptodactyly syndrome piebald trait with neurologic defects syndrome telfer-sugar-jaeger syndrome Piebald trait-neurologic defects syndrome epilepsy of temporal lobe epilepsy, familial temporal lobe epilepsy, temporal lobe familial temporal lobe epilepsy syndrome temporal lobe epileptic seizure temporal lobe seizure tle - temporal lobe epilepsy Temporal lobe epilepsy borrone di rocco crovato syndrome ter haar syndrome Frank-ter haar syndrome curran syndrome Acrorenal syndrome carcinoma, embryonal, malignant embryonal adenocarcinoma Embryonal carcinoma clostridial tetanus clostridium tetani caused infectious disease of the nervous system clostridium tetani infectious disease of the nervous system infection caused by clostridium tetani infection due to clostridium tetani Tetanus tetra-amelia total amelia Tetraamelia tetraploidy Tetraploidy syndrome duplication/inversion type 15q11 idic (15) syndrome idic(15) inv dup (15) syndrome inv dup(15) invdup(15) inverted duplicated chromosome 15 syndrome isodicentric 15 chromosome non-distal tetrasomy 15q non-telomeric tetrasomy 15q Duplication/inversion 15q11 Dysmorphism-multiple structural anomalies syndrome Thakker-Donnai syndrome progressive hearing loss with stapes fixation stapedo-vestibular ankylosis thies-reis syndrome Progressive deafness with stapes fixation inborn error of thiopurine s-methyltransferase activity inborn thiopurine s-methyltransferase activity disorder poor metabolism of thiopurines-1 rare inborn error of thiopurine s-methyltransferase activity Thiopurine s-methyltransferase deficiency potter sequence cleft lip and palate cardiopathy syndrome potter sequence-cleft lip/palate-cardiopathy syndrome Thomas syndrome X-linked thrombocytopenia with normal platelets thrombocytopenia type 1 thrombocytopenia, X-linked, X-linked recessive thrombocytopenia, X-linked, intermittent, X-linked recessive Thrombocytopenia 1 Thompson Baraitser syndrome Thompson-Baraitser syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome thoracic dysplasia and hydrocephalus syndrome Thoracic dysplasia-hydrocephalus syndrome Thoraco-abdominal enteric duplication diffuse palmoplantar keratoderma, bothnian type krt1-related diffuse nonepidermolytic keratoderma neppk non-epidermolytic palmoplantar keratoderma nonepidermolytic palmoplantar hyperkeratosis nonepidermolytic palmoplantar keratoderma palmoplantar keratoderma, nonepidermolytic Diffuse nonepidermolytic palmoplantar keratoderma Thrombocytopathy-asplenia-miosis syndrome thrombocytopathy, asplenia and miosis Stormorken syndrome acute eosinophilic pneumonia iaep idiopathic acute eosinophilic pneumonitis loeffler's pneumonia loffler syndrome loffler's syndrome löffler syndrome Idiopathic acute eosinophilic pneumonia thrombocytopenia type 2 Thrombocytopenia 2 itp primary thrombocytopenic purpura thrombocytopenic purpura, autoimmune Autoimmune thrombocytopenic purpura Familial thrombomodulin anomalies sparse hair, short stature, skin anomalies syndrome sparse hair-short stature-skin anomalies syndrome thumb deformity and alopecia thumb deformity, alopecia, pigmentation anomaly syndrome Thumb deformity-alopecia-pigmentation anomaly syndrome epithelial tumour of the thymus epithelial tumour of thymus ten thymic epithelial tumour thymus epithelial tumour Thymic epithelial neoplasm thymic, renal, anal, lung dysplasia syndrome Thymic-renal-anal-lung dysplasia hereditary thyroglossal duct cyst Familial thyroglossal duct cyst thyroid cancer, nonmedullary, 2, autosomal dominant, somatic mutation thyroid cancer, nonmedullary, 2, susceptibility to thyroid cancer, nonmedullary, type 2 thyroid carcinoma, follicular, autosomal dominant, somatic mutation thyroid carcinoma, follicular, somatic Thyroid cancer, nonmedullary, 2 febrile neutrophilic dermatosis sweet disease Acute febrile neutrophilic dermatosis Holmes-Collins syndrome Absent tibia-polydactyly-arachnoid cyst syndrome central european encephalitis far eastern tbe russian spring-summer encephalitis siberian tick-borne encephalitis taiga encephalitis tbe viral encephalitis transmitted by tick west-siberian encephalitis western european tick-borne encephalitis Tick-borne encephalitis acute lymphatic leukaemia acute lymphoblastic leukaemia acute lymphoblastic leukaemia (all) acute lymphoblastic leukaemia (disease) acute lymphoblastic leukemia (all) acute lymphoblastic leukemia (disease) acute lymphoblastic leukemia/lymphoma acute lymphocytic leukaemia acute lymphocytic leukemias acute lymphogenous leukaemia acute lymphogenous leukemia acute lymphoid leukaemia acute lymphoid leukemia, disease all all - acute lymphoblastic leukemia all - acute lymphocytic leukaemia all - acute lymphocytic leukemia familial acute lymphocytic leukemia leukemia, acute lymphoblastic, somatic leukemia, lymphoblastic, malignant lymphoblastic leukemia, acute precursor cell lymphoblastic leukaemia precursor lymphoblasic leukaemia precursor lymphoblasic leukemia precursor lymphoblastic leukaemia precursor lymphoid neoplasm Acute lymphoid leukemia HNPP current pressure-sensitive neuropathy familial recurrent polyneuropathy hereditary liability to pressure palsies heterozygous microdeletion 17p11.2p12 neuropathy, recurrent, with pressure palsies potato-grubbing palsy tomaculous neuropathy tulip-bulb digger's palsy Hereditary neuropathy with liability to pressure palsies corpus callosum agenesis-blepharophimosis-robin sequence syndrome toriello carey syndrome Toriello-carey syndrome Goeminne TKCR syndrome Torticollis-keloids-cryptorchidism-renal dysplasia syndrome skin fragility, wooly hair, palmoplantar keratoderma syndrome skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome WNS Weismann Netter Stuhl Syndrome Weismann Netter syndrome Weismann-Netter-Stuhl syndrome anterior bowing of legs with dwarfism Weismann-netter syndrome agenesis of trachea congenital absence of trachea Tracheal agenesis tracheobronchopathia osteochondroplastica tracheopathia osteochondroplastica tracheopathia osteoplastica Tracheobroncheopathia osteoplastica Mitchell-Riley syndrome Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Tranebjaerg-Svejgaard syndrome X-linked intellectual disability-seizures-psoriasis syndrome acute m7 myeloid leukaemia acute megakaryoblastic leukaemia (fab type m7) acute megakaryoblastic leukemia, fab m7 acute megakaryoblastic leukemia, morphology acute megakaryocytic leukaemia acute megakaryocytic leukemias acute myeloid leukaemia m7 acute myeloid leukemia m7 amegl amkl aml m7 fab m7 leukemia, megakaryocytic, malignant m7 - acute megakaryoblastic leukemia malignant megakaryocytosis megakaryoblastic leukemia megakaryocytic myelosis thrombocytic leukaemia thrombocytic leukemia Acute megakaryoblastic leukemia adoa plus doa+ optic atrophy type 8 optic atrophy-deafness-polyneuropathy-myopathy syndrome optic atrophy-hearing loss-polyneuropathy-myopathy syndrome Autosomal dominant optic atrophy plus syndrome acute monoblastic leukaemia and acute monocytic leukaemia acute monoblastic leukemia and acute monocytic leukemia acute monoblastic or monocytic leukemia acute monocytic leukaemia acute monocytic leukaemia (fab m5b) acute monocytic leukaemia without mention of remission acute monocytic leukemia without mention of remission acute monocytic leukemia, fab m5 acute monocytic leukemia, morphology acute monocytic leukemia, morphology (morphologic abnormality) aml m5 amol fab m5 fab m5b leukemia, monocytic, malignant monocytic leukemia, acute Acute monocytic leukemia infection caused by larvae of trichinella trichinella caused disease or disorder trichinella disease or disorder trichinella infectious disease trichinelliasis Infection by larvae of Trichinella fatal infantile diarrhea with trichorrhexis nodosa intractable diarrhea with phenotypic anomalies phenotypic diarrhea phenotypic diarrhea of infancy phenotypic diarrhoea sd/the syndromic diarrhea syndromic diarrhea/tricho-hepato-enteric syndrome syndromic diarrhoea the syndrome tricho-hepato-enteric syndrome trichohepatoenteric syndrome type 1 Trichohepatoenteric syndrome acute granulocytic leukaemia without maturation acute granulocytic leukemia without maturation acute m1 myeloid leukaemia acute myeloblastic leukaemia m1 acute myeloblastic leukemia m1 acute myelocytic leukaemia without maturation acute myelocytic leukemia without maturation acute myelogenous leukaemia without maturation acute myeloid leukaemia without maturation acute myeloid leukaemia without maturation (fab m1) acute myeloid leukemia without maturation, fab m1 aml m1 fab m1 m1 - acute myeloblastic leukemia without maturation m1 acute granulocytic leukaemia m1 acute granulocytic leukaemia without maturation m1 acute granulocytic leukemia m1 acute granulocytic leukemia without maturation m1 acute myeloblastic leukaemia m1 acute myeloblastic leukaemia without maturation m1 acute myelocytic leukaemia m1 acute myelocytic leukaemia without maturation m1 acute myelocytic leukemia m1 acute myelocytic leukemia without maturation m1 acute myelogenous leukaemia m1 acute myelogenous leukaemia without maturation m1 acute myeloid leukaemia m1 acute myeloid leukaemia without maturation Acute myeloblastic leukemia without maturation Trichodysplasia-xeroderma syndrome Trichofolliculoma eyelashes long mental retardation long eyelashes-intellectual disability syndrome oliver-mcfarlane syndrome trichomegaly retina pigmentary degeneration dwarfism trichomegaly with retina pigmentary degeneration and dwarfism syndrome Trichomegaly-retina pigmentary degeneration-dwarfism syndrome trichoodontoonychial dysplasia with bone deficiency in frontoparietal region Trichoodontoonychial dysplasia acute granulocytic leukemia with maturation acute m2 myeloid leukaemia acute myeloblastic leukaemia m2 acute myeloblastic leukemia m2 acute myelocytic leukaemia with maturation acute myelogenous leukaemia with maturation acute myeloid leukaemia (aml-m2) acute myeloid leukaemia with maturation acute myeloid leukemia with maturation, fab m2 aml m2 fab m2 m2 - acute myeloblastic leukemia with maturation m2 acute granulocytic leukaemia m2 acute myeloblastic leukaemia m2 acute myeloblastic leukaemia with maturation m2 acute myelocytic leukaemia with maturation m2 acute myelogenous leukaemia m2 acute myelogenous leukaemia with maturation m2 acute myeloid leukaemia m2 acute myeloid leukaemia with maturation Acute myeloblastic leukemia with maturation congenital atresia of tricuspid valve imperforate right atrioventricular valve right atrioventricular valve atresia tricuspid atresia (disease) Tricuspid atresia baraitser-winter cerebrofrontofacial syndrome cerebrooculofacial lymphatic syndrome cofl syndrome fryns-aftimos syndrome (pachygyria, mental retardation, epilepsy, and characteristic facies) Baraitser-Winter syndrome triophthalmia unilateral diplophthalmia unilateral diplophthalmos unilateral ocular duplication Triopia hemolytic anaemia due to triosephosphate isomerase deficiency hemolytic anemia due to triosephosphate isomerase deficiency triose phosphate-isomerase deficiency Triosephosphate isomerase deficiency PPD2 polydactyly, preaxial type 2 polydactyly, preaxial type II preaxial polydactyly type 2 triphalangeal thumb, type i Polydactyly of a triphalangeal thumb acute m4 myeloid leukaemia acute myelomonocytic leukaemia acute myelomonocytic leukaemia (fab type m4) acute myelomonocytic leukemia (clinical) acute myelomonocytic leukemia, fab m4 aml m4 amml amml - acute myelomonocytic leukemia ammol fab m4 m4 - acute myelomonocytic leukemia Acute myelomonocytic leukemia M4 carnevale hernandez del castillo syndrome carnevale-hernández-del castillo syndrome triphalangeal thumb with brachyectrodactyly syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Triploidy chromosome 10, trisomy 10p trisomy type 10p Trisomy 10p mosaic trisomy 12 syndrome mosaic trisomy chromosome 12 mosaic trisomy type 12 trisomy 12 mosaicism Mosaic trisomy 12 Duplication 12p trisomy type 12p Trisomy 12p mosaic trisomy 15 syndrome mosaic trisomy chromosome 15 mosaic trisomy type 15 trisomy 15 mosaicism uniparental disomy of 15 Mosaic trisomy 15 partial duplication of chromosome 15q partial duplication of the long arm of chromosome type 15 partial trisomy of chromosome 15q partial trisomy of the long arm of chromosome 15 Partial duplication of the long arm of chromosome 15 partial duplication of chromosome 16p partial duplication of the short arm of chromosome type 16 partial trisomy of chromosome 16p partial trisomy of the short arm of chromosome 16 Partial duplication of the short arm of chromosome 16 mosaic trisomy 17 syndrome mosaic trisomy chromosome 17 mosaic trisomy type 17 trisomy 17 mosaicism Mosaic trisomy 17 dup(17p) trisomy type 17p Trisomy 17p Duplication 18p Duplication of the short arm of chromosome 18 trisomy of the short arm of chromosome 18 trisomy type 18p Trisomy 18p mosaic trisomy 2 syndrome mosaic trisomy chromosome 2 mosaic trisomy type 2 trisomy 2 mosaicism Mosaic trisomy 2 chromosome 20 trisomy mosaic trisomy 20 syndrome mosaic trisomy chromosome 20 Complete trisomy 20 syndrome Duplication of 20p dup(20p) partial duplication of chromosome 20p partial duplication of the short arm of chromosome 20 partial trisomy of chromosome 20p partial trisomy of the short arm of chromosome 20 trisomy type 20p Trisomy 20p complete trisomy 22 syndrome Trisomy 22 partial duplication of chromosome 2p partial duplication of the short arm of chromosome type 2 partial trisomy of chromosome 2p Partial duplication of the short arm of chromosome 2 partial duplication of chromosome 2q partial duplication of the long arm of chromosome type 2 partial trisomy of chromosome 2q partial trisomy of the long arm of chromosome 2 Partial duplication of the long arm of chromosome 2 mosaic trisomy 3 syndrome mosaic trisomy chromosome 3 mosaic trisomy type 3 trisomy 3 mosaicism Mosaic trisomy 3 partial duplication of chromosome 3p partial duplication of the short arm of chromosome type 3 partial trisomy of chromosome 3p partial trisomy of the short arm of chromosome 3 Partial duplication of the short arm of chromosome 3 partial duplication of chromosome 3q partial duplication of the long arm of chromosome type 3 partial trisomy of chromosome 3q Partial duplication of the long arm of chromosome 3 Duplication 4q syndrome, partial chromosome 4, partial trisomy 4q distal 4q trisomy dup(4q) syndrome, partial partial duplication of chromosome 4q partial duplication of the long arm of chromosome type 4 partial trisomy 4q syndrome partial trisomy of chromosome 4q partial trisomy of the long arm of chromosome 4 Partial duplication of the long arm of chromosome 4 partial duplication of chromosome 5q partial duplication of the long arm of chromosome 5 partial trisomy of chromosome 5q partial trisomy of the long arm of chromosome type 5 Partial trisomy of the long arm of chromosome 5 partial duplication of chromosome 6p partial duplication of the short arm of chromosome type 6 partial trisomy of chromosome 6p partial trisomy of the short arm of chromosome 6 Partial duplication of the short arm of chromosome 6 partial duplication of chromosome 6q partial duplication of the long arm of chromosome type 6 partial trisomy of chromosome 6q partial trisomy of the long arm of chromosome 6 Partial duplication of the long arm of chromosome 6 mosaic trisomy 7 syndrome mosaic trisomy type 7 uniparental disomy of 7 Mosaic trisomy 7 7p partial trisomy partial duplication of chromosome 7p partial duplication of the short arm of chromosome type 7 partial trisomy of chromosome 7p partial trisomy of the short arm of chromosome 7 Partial duplication of the short arm of chromosome 7 7q partial trisomy partial duplication of chromosome 7q partial duplication of the long arm of chromosome type 7 partial trisomy of chromosome 7q partial trisomy of the long arm of chromosome 7 Partial duplication of the long arm of chromosome 7 mosaic trisomy 8 syndrome mosaic trisomy type 8 warkany syndrome Mosaic trisomy 8 16)(p13 16)(p13.1 acute myeloid leukemia with cbfb::myh11 fusion acute myeloid leukemia with inv(16)(p13.1q22) acute myeloid leukemia with t(16 acute myelomonocytic leukemia - eosinophilic variant aml with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16 q22) Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) partial duplication of chromosome 8p partial duplication of the short arm of chromosome type 8 partial duplication short arm chromosome 8 partial trisomy of chromosome 8p partial trisomy of short arm of chromosome 8 partial trisomy of the short arm of chromosome 8 Partial duplication of the short arm of chromosome 8 Duplication 8q trisomy type 8q Trisomy 8q partial duplication of chromosome xq partial duplication of the long arm of chromosome type x partial trisomy of chromosome xq partial trisomy of chromosome xq partial trisomy of the long arm of chromosome x Partial duplication of the long arm of chromosome X SPG20 autosomal recessive spastic paraplegia 20 autosomal recessive spastic paraplegia Troyer type autosomal recessive spastic paraplegia type 20 childhood-onset spastic paraparesis with distal muscle wasting childhood-onset spastic paraparesis-distal muscle wasting syndrome hereditary spastic paraplegia 20 spastic paraplegia 20 (Troyer syndrome) spastic paraplegia type 20 Troyer syndrome Trueb-Burg-Bottani syndrome Autosomal dominant trichoodontoonychodysplasia-syndactyly (pml/raralpha) and variants 17)(q22 acute myeloblastic leukaemia 3 acute myeloblastic leukaemia type 3 acute myeloblastic leukemia 3 acute myeloblastic leukemia type 3 acute myeloid leukaemia m3 acute myeloid leukaemia with t(15 acute myeloid leukemia m3 acute myeloid leukemia with t(15 acute promyelocytic leukaemia acute promyelocytic leukaemia with pml-rara acute promyelocytic leukaemia with t(15 acute promyelocytic leukemia (clinical) acute promyelocytic leukemia with pml-rara acute promyelocytic leukemia with t(15 acute promyelocytic leukemia, fab m3 aml m3 aml with t(15 apl apl - acute promyelocytic leukemia apml apml - acute promyelocytic leukaemia apml - acute promyelocytic leukemia fab m3 leukemia, acute promyelocytic, somatic m3 - acute promyelocytic leukemia pml-rara pml/rara promyelocytic leukaemia promyelocytic leukemia q12) Acute promyelocytic leukemia neonatal tyrosinemia transient neonatal hypertyrosinemia transient neonatal tyrosinemia transient tyrosinemia of the neonate transitory neonatal tyrosinemia Transient tyrosinemia of the newborn epimerase deficiency epimerase deficiency galactosemia galactose epimerase deficiency galactosemia - epimerase deficiency galactosemia iii galactosemia type 3 gale (udp-galactose-4-epimerase) deficiency gale-d udp (uridine diphosphate) galactose-4-epimerase deficiency udp (uridine diphosphate) glucose-4-epimerase deficiency udp-galactose-4-epimerase deficiency udpglucose 4-epimerase deficiency disease uridine diphosphate galactose-4 epimerase deficiency uridine diphosphate galactose-4-epimerase deficiency uridine diphosphate glucose-4-epimerase deficiency UDPglucose-4-epimerase deficiency renal dysplasia with limb defect syndrome renal dysplasia, mesomelia, radiohumeral fusion syndrome renal dysplasia-limb defects syndrome renal dysplasia-mesomelia-radiohumeral fusion syndrome Ulbright-Hodes syndrome ulerythema ophryogenes ulerythema ophryogenes with multiple congenital anomalies Ulerythema ophryogenesis Ulna hypoplasia-intellectual disability syndrome absence or narrowing of first part of small bowel congenital atresia of duodenum duodenal atresia (disease) duodenal atresia or stenosis Duodenal atresia acadm deficiency acyl-coa dehydrogenase, medium chain, deficiency of mcad mcad - medium chain acyl-coa dehydrogenase deficiency mcad deficiency mcadd medium chain acyl-coenzyme a dehydrogenase deficiency Medium chain acyl-coa dehydrogenase deficiency Van den Berghe-Dequecker syndrome ulnar hypoplasia-lobster-claw deformity of feet syndrome Ulnar hypoplasia-split foot syndrome Umbilical cord ulceration-intestinal atresia syndrome pili trianguli et canaliculi Uncombable hair syndrome 17q11 deletion syndrome 17q11 microdeletion syndrome chromosome 17q11.2 deletion syndrome chromosome 17q11.2 deletion syndrome, 1.4 mb chromosome 17q11.2 deletion syndrome, 1.4-mb del(17)(q11) macrocephaly, macrosomia, and facial dysmorphism syndrome mmfd monosomy 17q11 neurofibromatosis 1 microdeletion syndrome neurofibromatosis type 1 microdeletion syndrome nf1 microdeletion syndrome nf1 microduplication syndrome overgrowth-macrocephaly-facial dysmorphism syndrome rnf135-related overgrowth syndrome van asperen syndrome Chromosome 17q11.2 deletion syndrome, 1.4Mb kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14 paternal uniparental disomy of chromosome type 14 upd(14)pat upd14, paternal Paternal uniparental disomy of chromosome 14 hip dysplasia with enchondromata and ecchondroma syndrome hip dysplasia-enchondromata-ecchondroma syndrome Upington disease congenital cyst of urachus congenital urachal cyst urachal cyst (disease) Urachal cyst intellectual disability and short stature with hand contracture and genital anomaly syndrome intellectual disability-short stature-hand contractures-genital anomalies syndrome prader willi habitus with osteopenia and camptodactyly prader-willi habitus-osteopenia-camptodactyly syndrome urban rogers meyer syndrome Urban-rogers-meyer syndrome HMD Urban-Schosser-Spohn syndrome mucoepithelial dysplasia, hereditary Hereditary mucoepithelial dysplasia urethral obstruction sequence Early urethral obstruction sequence orotic aciduria oroticaciduria orotidylic decarboxylase deficiency uridine monophosphate synthetase deficiency Hereditary orotic aciduria Mullerian derivatives-lymphangiectasia-polydactyly syndrome US1 USH1 Usher syndrome, type 1 retinitis pigmentosa and congenital deafness Usher syndrome type 1 ush2 usher syndrome, type ii Usher syndrome type 2 retinitis pigmentosa-deafness syndrome type 3 ush3 usher syndrome, type iii Usher syndrome type 3 vacterl syndrome vacterl/vater association vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects (vacterl) syndrome vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome VATER association cauv congenital absence of uterus and vagina mayer rokitansky küster hauser syndrome mrkh mrkh syndrome mullerian aplasia/dysgenesis rokitansky kuster hauser syndrome rokitansky sequence rokitansky syndrome Mayer-Rokitansky-Kuster-Hauser syndrome Van den bosch syndrome cerebro-facio-articular syndrome cerebrofacioarticular syndrome Van maldergem syndrome 2,8-dihydroxyadenine urolithiasis 2,8-dihydroxyadeninuria disease adenine phosphoribosyl transferase deficiency aprt deficiency deficiency of adenine phosphoribosyltransferase deficiency of amp pyrophorylase Adenine phosphoribosyltransferase deficiency congenital bilateral agenesis of vas deferens congenital bilateral aplasia of vas deferens Congenital bilateral absence of vas deferens aneurysm of the vein of galen median prosencephalic arteriovenous fistula vein of galen aneurysm vein of galen arteriovenous malformations vein of galen malformation Vein of Galen aneurysmal malformation Velo-facial-skeletal syndrome amp deaminase deficiency deficiency of adenosine monophosphate deaminase deficiency of adenylic acid deaminase deficiency of amp aminase deficiency of amp deaminase myoadenylate deaminase deficiency Adenosine monophosphate deaminase deficiency congenital velopharyngeal incompetence velopharyngeal dysfunction vpi - velopharyngeal incompetence Velopharyngeal insufficiency Stoll-Kieny-Dott syndrome Ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome congenitally uncorrected transposition of the great arteries congenitally uncorrected transposition of the great vessels d-loop transposition of the great arteries d-tga dextrotransposition of the great arteries dtga isolated ventriculoarterial discordance ventriculoarterial discordance with atrioventricular concordance Dextro-looped transposition of the great arteries autosomal recessive brachyolmia and amelogenesis imperfecta syndrome brachyolmia and amelogenesis imperfecta syndrome dass dental anomalies and short stature platyspondyly amelogenesis imperfecta platyspondyly with amelogenesis imperfecta platyspondyly-amelogenesis imperfecta syndrome selective tooth agenesis 5 sthag6 tooth agenesis, selective, 6 verloes-bourguignon syndrome Brachyolmia-amelogenesis imperfecta syndrome Adenosine triphosphatase deficiency, anemia due to Verloes-Van Maldergem-de Marneffe syndrome Microspherophakia-metaphyseal dysplasia syndrome cleft lip, limb and heart malformation syndrome cleft lip-limb and heart malformations syndrome cleft-limb-heart malformation syndrome syndrome Verloove Vanhorick-Brubakk syndrome ilven ilven - inflammatory linear verrucous epidermal nevus Inflammatory linear verrucous epidermal nevus charcot-marie-tooth disease, foot deformity of congenital convex foot congenital convex pes valgus congenital rocker-bottom foot convex pes valgus cvt - congenital vertical talus rocker bottom feet rocker-bottom feet rockerbottom feet Congenital vertical talus microcephalus with brachydactyly and kyphoscoliosis syndrome microcephaly with brachydactyly and kyphoscoliosis syndrome viljoen-kallis-voges syndrome Microcephaly-brachydactyly-kyphoscoliosis syndrome haemorrhagic fevers, viral vhf vhf - viral hemorrhagic fever vhfs viral haemorrhagic fever Viral hemorrhagic fever androblastoma arrhenoblastoma ovarian malignant sertoli-leydig cell tumor ovarian malignant sertoli-leydig cell tumour ovarian sertoli-leydig cell cancer ovarian sertoli-leydig cell tumor, malignant primary malignant sertoli-leydig cell tumor of ovary virilizing ovarian tumor virilizing ovarian tumour Malignant Sertoli-Leydig cell tumor of ovary visceral myopathy with familial external ophthalmoplegia syndrome visceral myopathy-familial external ophthalmoplegia syndrome Oculogastrointestinal muscular dystrophy adenylosuccinase deficiency adenylosuccinate deficiency asase - adenylosuccinate lyase deficiency deficiency of adenylosuccinate lyase inborn (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity disorder inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity rare inborn error of (s)-2-(5-amino-1-(5-phospho-d-ribosyl)imidazole-4-carboxamido)succinate amp-lyase (fumarate-forming) activity succinyladenosinuria succinylpurinemic autism Adenylosuccinate lyase deficiency degenerative vitreoretinopathy vitreoretinal abnormality vitreoretinal degeneration Vitreoretinopathy advirc autosomal dominant vitreoretinochoroidopathy with nanophthalmos vitreoretinochoroidopathy with microcornea, glaucoma and cataract Autosomal dominant vitreoretinochoroidopathy very long chain acyl coa dehydrogenase deficiency (lcad) very long chain acyl-coenzyme a dehydrogenase deficiency vlcad vlcad - very long chain acyl-coa dehydrogenase deficiency vlcad deficiency vlcadd Very long chain acyl-coa dehydrogenase deficiency congenital laryngeal abductor paralysis familial vocal cord dysfunction gerhardt syndrome laryngeal abductor paralysis laryngeal abductor paralysis, x-linked Congenital laryngeal abductor palsy atypical mrkh (mayer rokitansky kuster hauser) syndrome atypical mrkh syndrome mayer-rokitansky-kuster-hauser syndrome, type ii mrkh syndrome type 2 mrkh, type ii mullerian duct aplasia, renal dysplasia, cervical somite anomalies syndrome mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome murcs association müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome Mayer-Rokitansky-Küster-Hauser syndrome type 2 Ferlini-Ragno-Calzolari syndrome Waaler-Aarskog syndrome Hydrocephalus-costovertebral dysplasia-sprengel anomaly syndrome ws1 Waardenburg syndrome type 1 ws2 Waardenburg syndrome type 2 klein-waardenberg syndrome klein-waardenberg's syndrome klein-waardenburg syndrome waardenburg syndrome type iii waardenburg syndrome with limb anomalies waardenburg syndrome with upper limb anomalies ws3 Waardenburg syndrome type 3 Shah-Waardenburg syndrome WS4 Waardenburg syndrome type 4 Waardenburg syndrome type IV Waardenburg-Hirschsprung syndrome Waardenburg-Shah syndrome Waardenburg Shah syndrome Waardenburg's syndrome van der Hoeve Halbertsona Waardenburg syndrome Waardenburg syndrome del(11)(p13) deletion 11p13 monosomy 11p13 wagr (wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome wagr (wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome wagr 11p13 deletion syndrome wagr syndrome/11p deletion syndrome wilms tumor, aniridia, genitourinary anomalies and developmental delay syndrome wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome, autosomal dominant, somatic mutation wilms tumor-aniridia-genital anomalies-retardation syndrome wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome 11p partial monosomy syndrome aniridia and intellectual disability syndrome aniridia-intellectual disability syndrome walker-dyson syndrome Aniridia - intellectual disability syndrome Wallis-Zieff-Goldblatt syndrome rhizomelic shortness with clavicular defect Cleidorhizomelic syndrome WARBM Warburg-Sjo-Fledelius syndrome micro syndrome Warburg micro syndrome deaf blind hypopigmentation syndrome yemenite type warburg-thomsen syndrome yemenite deaf-blind hypopigmentation syndrome Deaf blind hypopigmentation syndrome, yemenite type craniosynostosis boston type craniosynostosis type 2 craniosynostosis, boston type craniosynostosis, warman type crs2 msx2-related craniosynostosis warman-mulliken-hayward syndrome Craniosynostosis 2 AFND Toriello syndrome Acromelic frontonasal dysostosis weaver williams syndrome Weaver-Williams syndrome adrenal hypoplasia, congenital, x-linked recessive congenital adrenal hypoplasia, x-linked isolated x-linked adrenal hypoplasia congenita x-linked congenital adrenal hypoplasia X-linked adrenal hypoplasia congenita distal myopathy, welander type gower's muscular dystrophy wdm Welander distal myopathy Wellesley-Carman-French syndrome Cataract-aberrant oral frenula-growth delay syndrome spastic paraparesis co-occurrent with deafness spastic paraparesis-hearing loss syndrome wells jankovic syndrome wells-jankovic syndrome Spastic paraparesis-deafness syndrome osteopathia striata, pigmentary dermopathy, white forelock syndrome whyte-murphy syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome growth deficiency and mental retardation with facial dysmorphism hypertrichosis, short stature, facial dysmorphism, developmental delay syndrome hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome wiedemann steiner syndrome Wiedemann-steiner syndrome hirsutism, skeletal dysplasia, and impaired intellectual development wiedemann-oldigs-oppermann syndrome Hirsutism-skeletal dysplasia-intellectual disability syndrome cervico-oculofacial syndrome cervicooculoacoustic syndrome wildervanck's syndrome Wildervanck syndrome acquired von willebrand disease acquired von willebrand disease (hereditary or acquired) acquired von willebrand's disease avws Acquired von willebrand syndrome prader labhart willi syndrome prader willi syndrome prader-labhart-willi syndrome prader-willi-labhart syndrome willi-prader syndrome Prader-willi syndrome denys-drash syndrome, autosomal dominant, somatic mutation drash syndrome nephrotic syndrome type 4 nephrotic syndrome with pseudohermaphroditism wilms tumor and pseudohermaphroditism wilms tumor-disorder of sex development syndrome wilms tumor-dsd syndrome wilms tumour and pseudohermaphroditism wilms' tumor and nephrotic syndrome with pseudohermaphroditism Denys-drash syndrome intellectual developmental disorder, x-linked, syndromic, wilson-turner type intellectual disability, x-linked, syndromic 6 intellectual disability, x-linked, with gynecomastia and obesity mrxs6 wilson turner syndrome wilson-turner syndrome, x-linked recessive wts x-linked intellectual disability-gynecomastia-obesity syndrome Wilson-Turner syndrome acc adenocarcinoma, adrenocortical, malignant adrenal cortical carcinoma (morphologic abnormality) adrenal gland carinoma adrenocortical carcinoma (disease) carcinoma, adrenocortical, malignant cortical cell carcinoma Adrenal cortex carcinoma agenesis of corpus callosum with polysyndactyly syndrome corpus callosum agenesis-polysyndactyly syndrome curry-jones syndrome, somatic mosaic Curry-jones syndrome hnd hypodontia-nail dysgenesis syndrome witkop's syndrome witkop-brearley-gentry syndrome Hypoplastic enamel-onycholysis-hypohidrosis syndrome early-onset diabetes mellitus with multiple epiphyseal dysplasia epiphyseal dysplasia, multiple, with early onset diabetes mellitus multiple epiphyseal dysplasia with early-onset diabetes mellitus wolcott-rallison dysplasia wrs Wolcott-rallison syndrome diabetes, hypogonadism, deafness, intellectual disability syndrome diabetes-hypogonadism-deafness-intellectual disability syndrome diabetes-hypogonadism-hearing loss-intellectual disability syndrome hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities Woodhouse-sakati syndrome Intrauterine growth retardation with increased mitomycin c sensitivity salamon's syndrome Wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome arrhythmogenic cardiomyopathy with woolly hair and keratoderma carvajal syndrome dcwhk dilated cardiomyopathy with woolly hair and keratoderma dilated cardiomyopathy with wooly hair and keratoderma keratoderma with woolly hair type ii keratoderma with wooly hair type ii kwwh type ii palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome Arrhythmogenic cardiomyopathy with wooly hair and keratoderma afro-textured hair familial woolly hair syndrome familial wooly hair syndrome hereditary woolly hair syndrome hereditary wooly hair syndrome isolated familial woolly hair disorder isolated familial wooly hair disorder kinked hair kinky hair texture nappy hair texture woolly hair Wooly hair congenital suprabulbar paresis Worster-drought syndrome intellectual developmental disorder with optic atrophy, deafness, and seizures mrxsg Severe x-linked intellectual disability, gustavson type acsl4 non-syndromic x-linked intellectual disability intellectual developmental disorder, x-linked 63 intellectual developmental disorder, x-linked 63, x-linked dominant intellectual disability, x-linked type 63 non-syndromic x-linked intellectual disability caused by mutation in acsl4 xlid63 Intellectual disability, X-linked 63 arx-related intellectual disability intellectual developmental disorder, x-linked 29 intellectual developmental disorder, x-linked 29, x-linked recessive Intellectual disability, x-linked, with or without seizures, arx-related intellectual developmental disorder, x-linked syndromic, snyder-robinson type, x-linked recessive intellectual developmental disorder, x-linked, syndromic, snyder-robinson type intellectual disability, x-linked, snyder-robinson type snyder-robinson intellectual disability syndrome snyder-robinson syndrome snyder-robinson x-linked mental retardation syndrome spermine synthase deficiency srs x-linked intellectual disability snyder type x-linked mental retardation snyder - robinson type Syndromic X-linked intellectual disability Snyder type ahds mct8 (slc16a2)-specific thyroid hormone cell transporter deficiency mct8 deficiency mct8-specific thyroid hormone cell membrane transporter deficiency mct8-specific thyroid hormone cell transporter deficiency mct8-specific thyroid hormone cell-membrane transporter deficiency monocarboxylate transporter 8 deficiency passos-bueno syndrome x-linked intellectual disability-hypotonia syndrome Allan-herndon-dudley syndrome scid-x1 scidx1 severe combined immunodeficiency, x-linked, x-linked recessive t-b+ scid due to gamma chain deficiency t-b+ severe combined immunodeficiency, x-linked thymic epithelial hypoplasia x-linked combined immunodeficiency diseases xscid T-B+ severe combined immunodeficiency due to gamma chain deficiency Adrenomyodystrophy XAN2 XDH and AOX dual deficiency xanthine dehydrogenase and aldehyde oxidase, combined deficiency of xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency Xanthinuria type ii deficiency of hypoxanthine oxidase deficiency of xanthine oxidase hereditary xanthinuria type 1 isolated xanthine oxidase deficiency xan1 xanthinuria type 1 xanthinuria, type 1 xanthinuria, type i Xanthinuria type i cerebrotendinous cholesterinosis cholestanol storage disease cholestanolosis ctx ctx - cerebrotendinous xanthomatosis ctx: cerebrotendinous xanthomatosis sterol 27-hydroxylase deficiency van bogaert-scherer-epstein disease van bogaert-scherer-epstein syndrome Cerebrotendinous xanthomatosis dehydrated hereditary stomatocytosis dessicocytosis hereditary xerocytosis Xerocytosis photosensitivity with defective dna synthesis polh-related xeroderma pigmentosum xeroderma pigmentosum with normal dna repair rates xpv Xeroderma pigmentosum variant type aase smith i syndrome aase smith type 1 syndrome aase-smith i syndrome aase-smith syndrome type 1 hydrocephalus with cleft palate and joint contracture syndrome hydrocephalus-cleft palate-joint contractures syndrome Aase-smith syndrome dentatorubral-pallidoluysian atrophy (drpla) dentatorubropallidoluysian degeneration drpla drpla - dentatorubropallidoluysian atrophy haw river syndrome naito-oyanagi disease Dentatorubral-pallidoluysian atrophy cardiomyopathy dilated with conduction defect type 2 cardiomyopathy, dilated, 1e cardiomyopathy, dilated, type 1e cardiomyopathy, dilated, with conduction defect 2 cardiomyopathy, dilated, with conduction disorder and arrhythmia cdcd2 cmd1e dilated cardiomyopathy type 1e dilated cardiomyopathy with conduction defect 2 dilated cardiomyopathy with conduction disorder and arrhythmia familial isolated dilated cardiomyopathy caused by mutation in scn5a scn5a familial isolated dilated cardiomyopathy scn5a-associated dilated cardiomyopathy scn5a-related dilated cardiomyopathy Dilated cardiomyopathy 1E photic epilepsy photoparoxysmal response photosensitive epilepsy ppr reflex epilepsy, photosensitive television epilepsy Photogenic epilepsy glioblastoma with sarcomatous component Gliosarcoma ASPS adult alveolar soft part sarcoma adult alveolar soft-Part sarcoma alveolar soft part sarcoma (disease) alveolar soft-part sarcoma Alveolar soft part sarcoma marshall syndrome with periodic fever periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome periodic fever, aphthous stomatitis, pharyngitis and adenitis periodic fever-aphtous stomatitis-pharyngitis-adenopathy periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome pfapa PFAPA syndrome 11-beta-hydroxylase-deficient congenital adrenal hyperplasia adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency adrenogenital disorder due to 11-beta-hydroxylase deficiency cah - 11 beta-hydroxylase deficiency cah due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency congenital adrenal hyperplasia, type 3 cyp11b1 cyp11b1 deficiency deficiency of steroid 11-beta-hydroxylase hypertensive congenital adrenal hyperplasia steroid 11-beta-monooxygenase deficiency Deficiency of steroid 11-beta-monooxygenase 17-ketoreductase deficiency 17-ketosteroid reductase deficiency 17-ketosteroidreductase deficiency 17b-hsd deficiency male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency pseudohermaphroditism male with gynecomastia testosterone 17-beta-dehydrogenase deficiency 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency aldosterone deficiency i corticosterone methyloxidase type 1 deficiency hypoaldosteronism, congenital, due to cmo i deficiency Corticosterone 18-monooxygenase deficiency d-2(oh) glutaric aciduria d-2-hga d-2-hydroxyglutaric acidemia d-2-hydroxyglutaric aciduria type 1 D-2-hydroxyglutaric aciduria 3-hydroxyisobutyric aciduria 3-methylglutaconic aciduria caused by mutation in opa3 3-methylglutaconic aciduria type iii autosomal recessive optic atrophy plus syndrome autosomal recessive optic atrophy type 3 costeff optic atrophy syndrome costeff syndrome infantile optic atrophy with chorea and spastic paraplegia iraqi-jewish optic atrophy plus mga3 opa3 3-methylglutaconic aciduria opa3-related 3-methylglutaconic aciduria 3-methylglutaconic aciduria type 3 3c syndrome ccc dysplasia cranio-cerebello-cardiac dysplasia syndrome craniocerebellocardiac dysplasia rtsc1 Ritscher-Schinzel syndrome Le Merrer syndrome Miller-McKusick-Malvaux syndrome Yakut short stature syndrome dolichospondylic dysplasia gloomy face syndrome three m syndrome 3-M syndrome 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hppd deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency hawkinsin high in urine hpd-gene related hawkinsinuria Hawkinsinuria 46,xx complete gonadal dysgenesis 46,xx gonadal dysgenesis 46,xx ovarian dysgenesis 46,xx pure gonadal dysgenesis follicular stimulating hormone-resistant ovaries fsh-ro hypergonadotropic ovarian dysgenesis ovarian dysgenesis with normal chromosomes pure gonadal dysgenesis 46,xx xx female gonadal dysgenesis xx-gd 46 XX gonadal dysgenesis 47,xxx karyotype 47, xxx triple x female triple x syndrome triplo-x syndrome trisomy type x xxx syndrome Trisomy X syndrome 47,xyy disomy y double y xyy karyotype y disomy Double Y syndrome 48,XXXY syndrome 48,xxyy syndrome XXYY syndrome 49, XXXXX syndrome 49,XXXXX syndrome Pentasomy type X XXXXX syndrome penta x syndrome penta-X poly-X Pentasomy X 49,XXXXY syndrome 3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 46,xy dsd due to 5-alpha-reductase 2 deficiency familial incomplete male pseudohermaphroditism type 2 male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency ppsh - pseudovaginal perineoscrotal hypospadias steroid 5-alpha-reductase 2 deficiency steroid 5-alpha-reductase deficiency 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 5-oxoprolinase deficiency (disease) 5-oxoprolinuria due to 5-oxoprolinase deficiency inborn 5-oxoprolinase (atp-hydrolyzing) activity disorder inborn error of 5-oxoprolinase (atp-hydrolyzing) activity oxoprolinuria due to oxoprolinase deficiency pyroglutamate hydrolase deficiency rare inborn error of 5-oxoprolinase (atp-hydrolyzing) activity reduced 5-oxoprolinase level reduced circulating 5-oxoprolinase activity 5-oxoprolinase deficiency 6-pyruvoyl-tetrahydrobiopterin synthase deficiency 6-pyruvoyl-tetrahydropterin synthase deficiency 6-pyruvoyltetrahydropterin synthase deficiency 6pts - 6-pyruvoyl-tetrahydrobiopterin synthase deficiency bh4-deficient hyperphenylalaninemia type a hpabh4a hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency pts deficiency tetrahydobioperin-deficient hyperphenylalaninemia due to pts deficiency BH4-deficient hyperphenylalaninemia A 7-dehydrocholesterol reductase deficiency RSH syndrome Rutledge lethal multiple congenital anomaly syndrome SLO syndrome SLOS Smith-Opitz-inborn syndrome Smith-lemli-opitz syndrome glycogen storage disease caused by mutation in pfkm glycogen storage disease type 7 glycogen storage disease, type 7 glycogenosis due to muscle phosphofructokinase deficiency glycogenosis type 7 glycogenosis type vii gsd due to muscle phosphofructokinase deficiency gsd type 7 gsd type vii gsd vii pfkm glycogen storage disease phosphofructokinase myopathy tarui's disease Glycogen storage disease, type VII craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome temtamy shalash syndrome temtamy-shalash syndrome Temtamy syndrome adult refsum disease due to phyh classic refsum disease hereditary motor and sensory neuropathy 4 hereditary motor and sensory neuropathy type 4 hereditary motor and sensory neuropathy type iv hereditary motor and sensory neuropathy, type iv hereditary sensory and motor neuropathy type 4 hereditary sensory-motor neuropathy, type iv heredoataxia hemeralopica polyneuritiformis heredoataxic atactica polyneuritiformis heredoataxic hemeralopica polyneuritiformis heredopathia atactica polyneuritiformis hmsn 4 hmsn iv hmsn type iv hsmn iv hypertrophic neuropathy of refsum pex7-related refsum disease phyh-related refsum disease phytanic acid oxidase deficiency phytanic acid storage disease phytanic-coa hydroxylase deficiency refsum disease, adult, 1 refsum disease, classic refsum syndrome refsum's disease refsum-thiebaut disease refsum-thiébaut disease Adult refsum disease androgen insensitivity, partial androgen insensitivity, partial, with or without breast cancer androgen insensitivity, partial, with or without breast cancer, x-linked recessive familial incomplete male pseudohermaphroditism type 1 familial incomplete male pseudohermaphroditism, type 1 gynecomastia, familial pais pais - partial androgen insensitivity syndrome partial androgen resistance syndrome pseudohermaphroditism, incomplete male, type i reifenstein syndrome reifenstein syndrome, partial Partial androgen insensitivity syndrome arthritis occurring after infection arthritis urethritica fiessinger-leroy disease polyarthritis enterica post-bacterial arthropathy post-infective arthritis post-infective arthropathy postdysenteric arthropathy venereal arthritis Reactive arthritis rp rp - retinitis pigmentosa tapetoretinal degeneration Retinitis pigmentosa premature retinopathy rlf - retrolental fibroplasia rop rop - retinopathy of prematurity terry syndrome terry's syndrome Retinopathy of prematurity cerebroatrophic hyperammonemia classic rett syndrome rett disorder rett syndrome, atypical, x-linked dominant rett syndrome, preserved speech variant, x-linked dominant rett syndrome, x-linked dominant rett's disorder rett’s disease rts rts - rett syndrome rtt Rett syndrome fibrosclerosis, multifocal Multifocal fibrosclerosis acute arthritis due to acute rheumatic fever acute rheumatic arthritis acute rheumatic fever acute rheumatic fever with acute arthritis arf arf - acute rheumatic fever rhf - rheumatic fever Rheumatic fever rachitis rickets (disease) vitamin d hydroxylation-deficient rickets weak and soft bones Rickets Axenfeld syndrome Axenfeldt-Rieger syndrome RGS - Rieger syndrome Rieger syndrome Rieger's anomaly anomaly, Rieger's Axenfeld-Rieger syndrome achalasia cardia idiopathic achalasia of esophagus idiopathic achalasia of oesophagus primary achalasia Idiopathic achalasia acid alpha-glucosidase deficiency acid maltase deficiency alpha-1,4-glucosidase acid deficiency deficiency of glucoamylase deficiency of maltase gaa glycogen storage disease generalised glycogenosis generalized glycogenosis glycogen heart disease glycogen storage disease caused by mutation in gaa glycogen storage disease type 2 glycogen storage disease type ii (pompe disease) glycogen storage disease, type ii glycogenosis due to acid maltase deficiency glycogenosis type 2 glycogenosis type ii glycogenosis, type 2 gsd due to acid maltase deficiency gsd type 2 gsd type ii lysosomal alpha-1,4-glucosidase deficiency pompe disease pompe's disease Glycogen storage disease ii agranulocytosis, acquired Acquired agranulocytosis acls acs kif7-related joubert syndrome schinzel acrocallosal syndrome schinzel syndrome 1 Acrocallosal syndrome acrodermatitis enteropathica, zinc deficiency type ae - acrodermatitis enteropathica aez danbolt-close syndrome danbolt-closs syndrome hereditary acrodermatitis enterohepatica hereditary acrodermatitis enteropathica inherited zinc deficiency primary zinc malabsorption primary zinc malabsorption syndrome Acrodermatitis enteropathica Arkless-Graham syndrome Maroteaux-Malamut syndrome acrodysplasia Acrodysostosis acromegalia anterior pituitary adenoma syndrome growth hormone hypersecretion syndrome marie disease sth hypersecretion syndrome Acromegaly adrenocorticotropic hormone (acth) deficiency congenital isolated adrenocorticotropic hormone deficiency (disease) corticotropin deficiency secondary hypoadrenalism Congenital isolated adrenocorticotropic hormone deficiency Actinomyces infection Madura foot due to Actinomadura actinomycotic madura foot actinomycotic mycetema actinomycotic mycetoma of foot Actinomycotic infection acute porphyria aip - acute intermittent porphyria intermittent acute porphyria intermittent acute porphyria syndrome porphyria intermittent acute pyrroloporphyria swedish porphyria Acute intermittent porphyria adams oliver syndrome aos congenital absence of skin on scalp with limb-reduction anomaly congenital scalp defects with distal limb anomalies congenital scalp defects with distal limb reduction anomalies limb, scalp and skull defects type 2 aplasia cutis Adams-Oliver syndrome addison disease due to autoimmunity addison's disease due to autoimmunity autoimmune adrenal atrophy classic addison disease primary addison disease Autoimmune primary adrenal insufficiency adenocarcinoma, cylindroid adenoid cystic cancer cylindroma (except cylindroma of skin, m-82000) Adenoid cystic carcinoma ameloblastoma of jaw benign adamantinoma Ameloblastoma ada ada deficiency ada-scid adenosine deaminase deficiency adenosine deaminase deficiency, partial, autosomal recessive, somatic mosaicism adenosine deaminase deficient severe combined immunodeficiency adenosine deaminase-deficient severe combined immunodeficiency disease (scid) scid due to ada deficiency scid due to ada deficiency, early-onset scid due to adenosine deaminase deficiency severe combined immunodeficiency due to ada deficiency, autosomal recessive, somatic mosaicism Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency adie's pupil adie's pupil or syndrome adie's pupil syndrome adie's syndrome tonic pupil-tendon areflexia syndrome Holmes-Adie syndrome cree encephalitis encephalopathy with basal ganglia calcification encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid Aicardi Goutieres syndrome adiposalgia adipose tissue rheumatism neurolipomatosis Lipomatosis dolorosa adrenal cancer adrenal gland malignancy ca - cancer of adrenal gland cancer of adrenal gland malignant adrenal gland tumour malignant adrenal tumour malignant tumour of adrenal gland malignant tumour of the adrenal gland Adrenal gland cancer cancer of adrenal medulla malignant adrenal medulla tumour malignant tumour of adrenal medulla malignant tumour of the adrenal medulla Adrenal medulla cancer abcd1 deficiency addison disease and cerebral sclerosis adrenoleukodystrophy, x-linked adrenoleukodystrophy, x-linked recessive adrenomyeloneuropathy, adult adrenomyeloneuropathy, adult, x-linked recessive ald ald - adrenoleukodystrophy bronze schilder disease bronze-schilder disease diffuse cerebral sclerosis of schilder encephalitis periaxialis concentrica encephalitis periaxialis, schilder's melanodermic leukodystrophy schilder-addison complex siemerling-creutzfeldt disease sudanophilic cerebral sclerosis x-ald x-linked adrenoleukodystrophy x-linked ald Adrenoleukodystrophy congenital hypofibrinogenemia fibrinogen deficiency Congenital afibrinogenemia agenesis of corpus callosum with chorioretinal abnormality aic aic - aicardi syndrome aicardi syndrome, x-linked dominant aicardi's syndrome aicardi’s syndrome corpus callosum agenesis of with chorioretinal abnormality corpus callosum, agenesis of, with chorioretinal abnormality Aicardi syndrome alexander's disease axd axd - alexander disease fibrinoid leukodystrophy Alexander disease alcaptonuria deficiency of homogentisate 1,2-dioxygenase deficiency of homogentisate oxygenase hereditary ochronosis hgd-gene related homogentisate 1,2-dioxygenase deficiency homogentisate 1,2-dioxygenase deficiency homogentisic acid oxidase deficiency homogentisicaciduria Alkaptonuria ahd ahs alper's disease alpers disease alpers progressive infantile poliodystrophy alpers progressive sclerosing poliodystrophy alpers syndrome alpers' disease alpers' disease or gray-matter degeneration alpers-huttenlocher alpers-huttenlocher syndrome gray matter degeneration mitochondrial dna depletion syndrome 4a mitochondrial dna depletion syndrome type 4a poliodystrophy progressive neuronal degeneration of childhood with liver disease progressive neuronal degeneration with liver cirrhosis spongy glioneuronal dystrophy Progressive sclerosing poliodystrophy a-1atd a1ad aat deficiency alpha-1-proteinase inhibitor deficiency alpha1-antitrypsin deficiency deficiency in alpa-1-proteinase inhibitor emphysema due to aat deficiency emphysema-cirrhosis, due to aat deficiency hemorrhagic diathesis due to antithrombin pittsburgh Alpha 1-antitrypsin deficiency alport deafness-nephropathy alport hearing loss-nephropathy congenital hereditary hematuria hemorrhagic familial nephritis hemorrhagic hereditary nephritis Alport syndrome als als - amyotrophic lateral sclerosis bulbar motor neuron disease charcot disease lou gehrig's disease motor neuron disease, bulbar Amyotrophic lateral sclerosis alms alss alstrom's syndrome Alstrom syndrome ai ai - amelogenesis imperfecta congenital enamel hypoplasia Amelogenesis imperfecta al amyloid light-chain amyloidosis amyloidosis, systemic light-chain amyloidosis primary amyloidosis of light chain type AL amyloidosis benign congenital hypotonia congenital atonic pseudoparalysis oppenheim's amyotonia oppenheim's disease Amyotonia congenita opd 2 syndrome opd ii syndrome opd syndrome 2 otopalatodigital syndrome type 2 otopalatodigital syndrome type i and ii otopalatodigital syndrome, type ii, x-linked dominant Oto-palato-digital syndrome, type II ais - androgen insensitivity syndrome androgen insensitivity androgen insensitivity syndrome due to coactivator deficiency androgen insensitivity, complete androgen insensitivity, x-linked recessive androgen-insensitivity syndrome goldberg - maxwell syndrome goldberg maxwell syndrome goldberg-maxwell syndrome morris syndrome testicular feminization Androgen resistance syndrome isolated anencephaly/exencephaly Anencephaly 1 angelman's syndrome angelman’s syndrome Angelman syndrome angiosarcoma (disease) of liver liver angiosarcoma (disease) Liver angiosarcoma nonsyndromic aniridia Isolated aniridia agomphiasis agomphosis anodontia vera anodontism complete absence of teeth complete agenesis of all teeth complete anodontia complete congenital absence of teeth complete dental agenesis congenital absence of teeth congenital edentia developmental absence of tooth failure of development of all teeth missing all teeth total absence of all teeth total anodontia total anodontia of permanent and deciduous teeth Anodontia absent testicle (congenital) agenesis of testis bilateral anorchia congenital absence of testis Testicular agenesis anticardiolipin syndrome apl - antiphospholipid syndrome apls aps - antiphospholipid syndrome classic antiphospholipid syndrome classic apls familial lupus anticoagulant hughes syndrome Antiphospholipid syndrome abs trapezoidocephaly-synostosis syndrome Antley-Bixler syndrome aorta coarctation coarctation narrowing of aorta narrowing of the aorta Coarctation of aorta al gazali-aziz-salem syndrome short stature with webbed neck and congenital heart disease syndrome Short stature-webbed neck-heart disease syndrome acrocephalosyndactyly (apert) acrocephalosyndactyly type 1 acs1 Acrocephalosyndactyly type I absence of part of skin at birth acc - aplasia cutis congenita aplasia cutis congenita (disease) aplasia cutis congenita recessive aplasia of skin congenital absence of skin congenital scars cutis aplasia epitheliogenesis imperfecta Aplasia cutis congenita adhesive arachnoiditis arachnoid mater inflammation chronic arachnoiditis inflammation of arachnoid mater Arachnoiditis al gazali donnai muller syndrome al gazali-donnai-muller syndrome hirschsprung disease with nail hypoplasia and dysmorphism hirschsprung's disease, hypoplastic nails, and dysmorphic facial features Hirschsprung disease-nail hypoplasia-dysmorphism syndrome arg1-gene related arginase deficiency argi deficiency arginase 1-gene related arginase deficiency deficiency of arginase deficiency of canavanase Arginase deficiency argininosuccinase deficiency argininosuccinatelyase deficiency argininosuccinic acid lyase deficiency argininosuccinic acidemia arginosuccinase deficiency asa deficiency asal deficiency asl deficiency asl-gene related argininosuccinate lyase deficiency deficiency of argininosuccinate lyase Argininosuccinic aciduria arrhythmogenic right ventricular dysplasia/cardiomyopathy arvc arvc cardiomyopathy arvd cardiomyopathy, arvc Arrhythmogenic right ventricular cardiomyopathy amianthosis asbestos dust pneumoconiosis asbestos pneumoconiosis pneumoconiosis from asbestos dust pulmonary asbestosis Asbestosis asherman syndrome intrauterine adhesions intrauterine synechiae traumatic intrauterine synechiae syndrome Uterine synechiae aspartylglucos-amidase (aga) deficiency aspartylglucos-aminuria aspartylglucosaminidase deficiency aspartylglycosylaminase deficiency glycosylasparaginase deficiency high urine aspartylglucosamine levels Aspartylglucosaminuria infection due to Aspergillus Aspergillosis Al Gazali Khidr Prem Chandran syndrome astrocytoma, anaplastic, malignant grade iii astrocytic tumour Astrocytoma, anaplastic ataxia - telangiectasia ataxia-telangiectasia, complementation group a ataxia-telangiectasia, complementation group d ataxia-telangiectasia, complementation group e ataxia-telangiectasia, fresno variant boder-sedgwick syndrome louis bar syndrome Ataxia telangiectasia alpha thalassemia x-linked intellectual deficit alpha thalassemia x-linked intellectual disability syndrome alpha thalassemia/intellectual disability syndrome x-linked alpha-thalassemia x-linked intellectual disability syndrome alpha-thalassemia/impaired intellectual development syndrome, x-linked alpha-thalassemia/intellectual disability syndrome nondeletion type alpha-thalassemia/mental retardation syndrome, x-linked dominant atr-x syndrome x-linked alpha-thalassemia-mental retardation syndrome Alpha thalassemia-X-linked intellectual disability syndrome 2 asd - secundum atrial septal defect asd ii asd ii - secundum atrial septal defect asd, ostium secundum type asd2 - secundum atrial septal defect atrial septal defect of fossa ovalis atrial septal defect within oval fossa fossa ovalis defect ostium secundum defect ostium secundum type atrial septal defect patent ostium secundum secundum atrial septal defect Atrial septal defect, ostium secundum type atrophoderma of pasini and pierini Atrophoderma of Pierini and Pasini Localized lipodystrophy al gazali nair syndrome al gazali-nair syndrome osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome aha aiha anemia, hemolytic, acquired autoimmune autoimmune haemolytic anaemia autoimmune haemolytic anemia autoimmune hemolytic anaemia hemolytic anemia, autoimmune Autoimmune hemolytic anemia Autoimmune hepatitis b cell lymphoma b-cell lymphocytic neoplasm b-cell lymphoma (clinical) b-cell lymphomas b-cell neoplasm B-cell lymphoma Babesia caused disease or disorder Babesia disease or disorder Babesia infectious disease babesiasis infection by Babesia piroplasmosis Babesiosis Alar cartilages hypoplasia-coloboma-telecanthus syndrome bacteria caused infectious meningitis bacteria infectious meningitis bm - bacterial meningitis Bacterial meningitis balo's concentric sclerosis balos concentric sclerosis concentric demyelination concentric sclerosis Balo concentric sclerosis brrs myhre-riley-smith syndrome riley smith syndrome ruvalcaba myhre smith syndrome Bannayan-Riley-Ruvalcaba syndrome Banti syndrome Banti's disease Banti's spleen Banti's syndrome Congestive splenomegaly albinism with deafness syndrome woolf's syndrome ziprkowski–margolis syndrome Albinism-hearing loss syndrome 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type ii barth syndrome, x-linked recessive bths cardioskeletal myopathy with neutropenia and abnormal mitochondria cardioskeletal myopathy-neutropenia syndrome mga type 2 mga type ii mga2 taz-related dilated cardiomyopathy x-linked cardioskeletal myopathy and neutropenia Barth syndrome aldosteronism with hyperplasia of the adrenal cortex bartter disease bartter syndrome with hypercalciuria and nephrocalcinosis renal tubular normotensive hypokalemic alkalosis with hypercalciuria salt-losing tubular disorder, henle's loop type salt-wasting tubulopathy, henle's loop type Bartter syndrome basilar artery migraine with aura migraine with brainstem aura Basilar migraine amaurotic idiocy juvenile type amaurotic idiocy, juvenile type batten-mayou disease batten-mayou syndrome batten-spielmeyer-vogt disease cerebral lipidosis myoclonic variant cerebral lipidosis, myoclonic variant ceroid lipofuscinosis, neuronal, type 3 classic juvenile ncl classic juvenile neuronal ceroid lipofuscinosis cln3 cln3 neuronal ceroid lipofuscinosis cln3-related neuronal ceroid-lipofuscinosis juvenile cln3 disease neuronal ceroid lipofuscinosis caused by mutation in cln3 spielmeyer-vogt disease spielmeyer-vogt type neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis 3 congenital myopathy, undefined/nonspecific Congenital myopathy beals hecht syndrome beals-hecht syndrome cca cca - congenital contractural arachnodactyly cca syndrome distal arthrogryposis type 9 Congenital contractural arachnodactyly SCA34 erythrokeratodermia with ataxia spinocerebellar ataxia and erythrokeratodermia Spinocerebellar ataxia type 34 becker dystrophinopathy becker muscular dystrophy, x-linked recessive becker's disease benign congenital myopathy benign pseudohypertrophic muscular dystrophy bmd bmd - becker muscular dystrophy Becker muscular dystrophy bns pigmentary hairy epidermal nevus Becker nevus syndrome Njovera Treponema pallidum subsp. endemicum caused disease or disorder Treponema pallidum subsp. endemicum disease or disorder Treponema pallidum subsp. endemicum infectious disease nonvenereal endemic syphilis Bejel astrocytoma, diffuse astrocytoma, diffuse, malignant grade ii astrocytic tumour Diffuse astrocytoma cicatricial pemphigoid mucosal pemphigoid mucosynechia atrophic bullous dermatitis mucosynechial pemphigoid mucous membrane pemphigoid scarring pemphigoid Benign mucous membrane pemphigoid ocular albinism with late-onset sensorineural hearing loss Ocular albinism with late-onset sensorineural deafness biliary tree cancer cancer of biliary tree malignant biliary tree neoplasm malignant neoplasm of biliary tree malignant tumor of biliary tract malignant tumour of biliary tract Biliary tract cancer birdshot chorioretinitis birdshot choroidal lesions birdshot laesions birdshot lesions birdshot retinochoroiditis birdshot retinochoroidopathy vitiliginous chorioretinitis vitiliginous choroiditis Birdshot chorioretinopathy blue diaper syndrome drummond syndrome familial hypercalcemia-nephrocalcinosis-indicanuria syndrome Tryptophan malabsorption syndrome albinism, yellow mutant type amish albinism oca1b oculocutaneous albinism, amish type platinum oculocutaneous albinism xanthous albinism yellow mutant oculocutaneous albinism yellow oculocutaneous albinism yellow-type albinism Oculocutaneous albinism type 1b brbn brbns Blue rubber bleb nevus bd - bowen's disease bowen's disease bowens disease disease, bowen disease, bowen's intraepidermal squamous cell carcinoma, bowen's type scc - intraepidermal squamous cell carcinoma - bowen's type Bowen disease of the skin bowen hutterite syndrome bowen hutterite syndrome (formerly) bowen hutterite syndrome, formerly bowen syndrome, hutterite type bowen-conradi hutterite syndrome bwcns hutterite syndrome Bowen-conradi syndrome Bowenoid papulosis boop bronchiolitis fibrosa obliterans bronchiolitis obliterans syndrome constrictive bronchiolitis ob - obliterative bronchiolitis organised pneumonia organized pneumonia Bronchiolitis obliterans with obstructive pulmonary disease bpd bpd - bronchopulmonary dysplasia bronchopulmonary dysplasia chronic lung disease of prematurity perinatal bronchopulmonary dysplasia ventilator lung in newborn Bronchopulmonary dysplasia of newborn Maltese fever undulant fever Brucellosis budd chiari syndrome budd-chiari syndrome, somatic f5-related budd-chiari syndrome hepatic vein obstruction jak2-related budd-chiari syndrome Budd-chiari syndrome presenile gangrene thromboangiitis obliterans [buerger's disease] Thromboangiitis obliterans bp - bullous pemphigoid Bullous pemphigoid bl - burkitt's lymphoma burkitt lymphoma, somatic burkitt lymphoma/leukemia burkitt's lymphoma (clinical) burkitt's lymphoma - disorder burkitt's tumor burkitt's tumor or lymphoma burkitt's tumour burkitt's tumour or lymphoma burkitt's type malignant lymphoma - small non-cleaved burkitt's type malignant lymphoma - undifferentiated malignant lymphoma, burkitt's type malignant lymphoma, small noncleaved, burkitt's, diffuse small non-cleaved cell lymphoma small non-cleaved cell lymphoma, burkitt's type Burkitt lymphoma bms bms - burning mouth syndrome orodynia stomatodynia stomatopyrosis Burning mouth syndrome buschke scleredema buschke's scleredema buschkes scleredema diabeticorum, scleredema diabeticorums, scleredema scleredema adultorum of buschke scleredema diabeticorum scleredema diabeticorum of buschke scleredema diabeticorums scleredema, buschke's scleredemas Scleredema cotton dust pneumoconiosis cotton mill fever cotton workers' lung disease cotton-dust asthma flax-dressers' disease mill fever pneumoconiosis from cotton dust stripper's asthma Byssinosis OTCS Opitz C trigonocephaly Opitz trigonocephaly C syndrome Opitz trigonocephaly syndrome trigonocephaly C syndrome C syndrome angioedema, hereditary, type i angioedemas, hereditary c1 esterase inhibitor deficiency familial angioneurotic edema familial angioneurotic oedema hae hae - hereditary angioedema hane hane - hereditary angioneurotic edema hereditary angioneurotic oedema hereditary bradykinine-induced angioedema hereditary non histamine-induced angioedema hereditary quincke's edema Hereditary angioneurotic edema Calciphylaxis aminoacylase 2 deficiency aspartoacylase deficiency canavan's disease canavan-van-bogaert-bertrand disease spongiform leucodystrophy spongy degeneration of the brain spongy degeneration of white matter spongy degeneration of white matter in infancy Canavan disease excessive serotonin secretion hormonal tumor hormone secretion by carcinoid tumor malignant carcinoid syndrome Carcinoid syndrome acromesomelic dysplasia group acromesomelic dysplasia syndrome Acromesomelic dysplasia ice (irido-corneo-endothelial) syndrome ice (iridocorneal endothelial) syndrome ice syndrome irido-corneo-endothelial syndrome Iridocorneal endothelial syndrome glycogen storage disease type 12 glycogen storage disease type xii glycogenosis due to aldolase a deficiency glycogenosis type 12 glycogenosis type xii gsd due to aldolase a deficiency gsd type 12 gsd type xii gsd xii hnsha due to aldolase a deficiency Glycogen storage disease due to aldolase a deficiency Carnosinemia Caroli disease acps2 acrocephalopolysyndactyly type 2 carpenter 's syndrome Carpenter syndrome cancer of cartilage tissue cartilage tissue cancer cartilaginous cancer malignant cartilage neoplasm malignant cartilage tissue neoplasm malignant neoplasm of cartilage tissue Cartilage cancer localised angiofollicular lymphoid hyperplasia Localized castleman disease caudal dysgenesis syndrome caudal dysplasia caudal dysplasia sequence sacral agenesis syndrome sacral regression syndrome Caudal regression sequence cavernous lymphatic malformation macrocystic lymphangioma macrocystic lymphatic malformation Cavernous lymphangioma bilateral perisylvian polymicrogyria perisylvian syndrome Congenital bilateral perisylvian syndrome central core disease cmyo1a congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia Central core myopathy arginine vasopressin deficiency avp-d - arginine vasopressin deficiency cdi cranial diabetes insipidus diabetes insipidus - pituitary pituitary diabetes insipidus vasopressin deficiency Central diabetes insipidus ABPA Hinson-Pepys disease allergic aspergillosis pulmonary aspergillus disease Allergic bronchopulmonary aspergillosis Cerebro-costo-mandibular syndrome camak - cerebro-oculo-facio-skeletal syndrome camfak - cerebro-oculo-facio-skeletal syndrome cerebro oculo facio skeletal syndrome cofs cofs - cerebro-oculo-facio-skeletal syndrome pena-shokeir syndrome type 2 pena-shokeir syndrome, type ii COFS syndrome chandler's syndrome dystrophy of corneal endothelium endothelial corneal dystrophy posterior membrane corneal dystrophy Chandler syndrome charcot marie tooth muscular atrophy charcot-marie-tooth hereditary neuropathy charcot-marie-tooth neuropathy cmt cmt - charcot-marie-tooth disease cmt/hmsn peroneal muscular atrophy Charcot-Marie-Tooth disease beguez cesar disease béguez césar disease chediak - steinbrinck anomaly chediak anomaly chediak higashi syndrome chediak-steinbrinck anomaly chediak-steinbrinck-higashi syndrome chs chédiak anomaly chédiak-higashi disease chédiak-higashi syndrome chédiak-higashi-steinbrink syndrome chédiak-steinbrinck anomaly congenital gigantism of peroxidase granules granulation anomaly of leukocytes hereditary gigantism of cytoplasmic organelles hereditary leukomelanopathy steinbrinck anomaly Chediak-higashi syndrome familial fibrous dysplasia of jaw Fibrous dysplasia of jaw pregnancy-related a-g syndrome Postpartum amenorrhea-galactorrhea syndrome chikungunya hemorrhagic fever chikungunya virus caused disease or disorder chikungunya virus disease or disorder chikungunya virus infectious disease Chikungunya fever child (congenital hemidysplasia, ichthyosiform erythroderma, limb defects) syndrome child nevus child syndrome, x-linked dominant congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome congenital hemidysplasia with ichthyosiform nevus and limbs defects Child syndrome autosomal dominant palmoplantar hyperkeratosis and congenital alopecia palmoplantar keratoderma and congenital alopecia stevanovic type palmoplantar keratoderma and congenital alopecia type 1 palmoplantar keratoderma and congenital alopecia, stevanovic type palmoplantar keratoderma with congenital alopecia ppk-ca, stevanovic type Autosomal dominant palmoplantar keratoderma and congenital alopecia cdd - childhood disintegrative disorder childhood disintegrative disease dementia infantilis disintegrative psychosis heller syndrome heller's syndrome symbiotic psychosis Childhood disintegrative disorder cholangiocarcinoma of intrahepatic biliary tract cholangiocarcinoma, intrahepatic, malignant icc intrahepatic bile duct cancer (cholangiocarcinoma) intrahepatic cholangiocarcinoma (bile duct cancer) intrahepatic cholangiocellular carcinoma peripheral cholangiocarcinoma Intrahepatic cholangiocarcinoma Vibrio cholerae Vibrio cholerae caused disease or disorder Vibrio cholerae disease or disorder Vibrio cholerae infectious disease cholera - Vibrio cholerae cholera due to Vibrio cholerae Cholera chondroblastoma (disease) chondroblastoma morphology chondroblastoma of bone chondromatous giant cell tumor codman's tumor Chondroblastoma CCAL1 Chondrocalcinosis 1 PEX7 rhizomelic chondrodysplasia punctata Pbd9 peroxisome biogenesis disorder 9 rcdp1 rhizomelic chondrodysplasia punctata caused by mutation in PEX7 rhizomelic chondrodysplasia punctata, type 1 Rhizomelic chondrodysplasia punctata type 1 acd-intellectual disability syndrome alopecia-contractures-dwarfism-intellectual disability syndrome Alopecia - contractures - dwarfism - intellectual disability syndrome chondrosarcoma (disease) chondrosarcoma, malignant chondrosarcoma, somatic chondrosarcoma, somatic mutation fibrochondrosarcoma Chondrosarcoma chorioblastoma choriocarcinoma (disease) choriocarcinoma, malignant chorion carcinoma chorionepithelioma chorionic carcinoma Choriocarcinoma alopecia, epilepsy, intellectual disability syndrome moynahan type alopecia-epilepsy-intellectual disability syndrome, moynahan type moynahan's syndrome Moynahan syndrome chorioretinal inflammation chorioretinitis (disease) choroiditis and retinitis retinochoroiditis Chorioretinitis chm tapetochoroidal dystrophy Choroideremia chromophobe cell renal carcinoma chromophobe renal cell adenocarcinoma chromophobe renal cell cancer kidney chromophobe renal carcinoma, chromophobe, somatic renal cell carcinoma, chromophobe cell Chromophobe renal cell carcinoma Ring chromosome type 13 Ring chromosome 13 alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome shokeir syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome ring 14 syndrome ring chromosome 14 syndrome, isolated cases ring chromosome type 14 Ring chromosome 14 ring chromosome type 18 Ring chromosome 18 1p36 1p36 microdeletion syndrome 1p36.33 deletion chromosome 1p36 deletion syndrome, distal, isolated cases del(1)(p36) deletion 1p36 deletion 1pter distal monosomy 1p36 monosomy 1p36 monosomy 1pter subtelomeric 1p36 deletion Chromosome 1p36 deletion syndrome chromosome 21 en anneau ring chromosome type 21 Ring chromosome 21 mosaic trisomy type 22 uniparental disomy of 22 Mosaic trisomy 22 Duplication 4p Duplication of the short arm of chromosome 4 trisomy of the short arm of chromosome 4 trisomy type 4p Trisomy 4p 5p partial trisomy chromosome 5, trisomy 5p duplication 5p duplication of the short arm of chromosome 5 partial trisomy of short arm of chromosome 5 trisomy of the short arm of chromosome 5 trisomy type 5p Trisomy 5p ring chromosome type 6 rose cluster 6 Ring chromosome 6 femoral facial syndrome femoral hypoplasia-unusual facies syndrome femoral-facial syndrome ffs fhufs Femoral hypoplasia - unusual facies syndrome bridges-good syndrome cgd - chronic granulomatous disease chronic septic granulomatosis congenital dysphagocytosis quie syndrome Chronic granulomatous disease chronic relapsing polyneuropathy cidp cidp - chronic inflammatory demyelinating polyneuropathy cidp - chronic inflammatory demyelinating polyradiculoneuropathy Chronic inflammatory demyelinating polyradiculoneuropathy b cell chronic lymphocytic leukaemia b cell lymphocytic leukaemia b-cell chronic lymphocytic leukemia/small lymphocytic lymphoma b-cell chronic lymphogenous leukaemia b-cell chronic lymphogenous leukemia b-cell chronic lymphoid leukaemia b-cell cll/sll (chronic lymphocytic leukemia/small lymphocytic lymphoma) b-cell lymphocytic leukaemia b-cll bcll chronic b-cell lymphocytic leukaemia chronic lymphatic leukaemia chronic lymphatic leukemia chronic lymphocytic leukaemia chronic lymphocytic leukaemia (cll) chronic lymphocytic leukemia (cll) chronic lymphocytic leukemia, b-cell type chronic lymphogenous leukaemia chronic lymphogenous leukemia chronic lymphoid leukemia chronic lymphoid leukemia, disease cll cll - chronic lymphocytic leukemia familial chronic lymphocytic leukemia hematopoeitic - chronic lymphocytic leukaemia (cll) leukemia, b-cell, chronic lymphoplasmacytic leukaemia lymphoplasmacytic leukemia malignant lymphoma lymphocytic well differentiated diffuse B-cell chronic lymphocytic leukemia bcr-abl positive chronic myelogenous leukaemia bcr-abl positive chronic myelogenous leukemia cgl - chronic granulocytic leukemia chronic granulocytic leukaemia chronic granulocytic leukemia chronic myelocytic leukaemia chronic myelocytic leukemia chronic myelogenous leukaemia chronic myelogenous leukaemia (cml) chronic myelogenous leukemia chronic myelogenous leukemia (cml) chronic myelogenous leukemias chronic myeloid leukaemia chronic myeloid leukemia chronic myeloid leukemia, disease cml cml - chronic myelogenous leukaemia cml - chronic myelogenous leukemia cml - chronic myeloid leukemia familial chronic myelocytic leukemia hematopoeitic - chronic myelocytic leukaemia (cml) hematopoeitic - chronic myelocytic leukemia (cml) leukemia, chronic myeloid, philadelphia chromosome positive, somatic leukemia, philadelphia chromosome-positive, resistant to imatinib, somatic mutation myeloid leukemia, chronic Chronic myelogenous leukemia, bcr-abl1 positive Neutropenia, lethal congenital, with eosinophilia chronic recurrent multifocal osteomyelitis (disease) cno/crmo crmo nbo Chronic multifocal osteomyelitis allergic angiitides allergic angiitides, granulomatous allergic angiitis allergic angiitis and granulomatosis allergic angiitis, granulomatous allergic granulomatoses allergic granulomatosis angiitis allergic granulomatous and angiitis allergic granulomatous angiitides angiitides, allergic angiitides, allergic granulomatous angiitides, granulomatous allergic angiitis, allergic angiitis, allergic granulomatous angiitis, granulomatous allergic churg strauss syndrome churg-strauss vasculitis css css - churg-strauss syndrome egpa egpa - eosinophilic granulomatosis with polyangiitis eosinophilic granulomatous vasculitides eosinophilic granulomatous vasculitis granulomatoses, allergic granulomatosis, allergic granulomatous allergic angiitides granulomatous allergic angiitis granulomatous angiitides, allergic granulomatous angiitis, allergic granulomatous vasculitides, eosinophilic granulomatous vasculitis, eosinophilic syndrome, churg-strauss vasculitides, eosinophilic granulomatous vasculitis, churg strauss vasculitis, churg-strauss vasculitis, eosinophilic granulomatous Eosinophilic granulomatosis with polyangiitis argininosuccinate synthase 1-gene related citrullinemia type i argininosuccinic acid synthase deficiency argininosuccinic acid synthetase deficiency ass deficiency ass1-gene related citrullinemia type i citrullinemia type 1 classic citrullinemia ctln1 Citrullinemia type i ccd - cleidocranial dysplasia clcd - cleidocranial dysplasia clcd1 cleidocranial dysplasia 1 craniocleidodysostosis marie-sainton disease Cleidocranial dysostosis alopecia and intellectual disability syndrome alopecia-intellectual disability syndrome perniola krajewska carnevale syndrome perniola-krajewska-carnevale syndrome Alopecia - intellectual disability syndrome coats disease coats' disease coats' syndrome congenital retinal telangiectasia leber miliary aneurysm Exudative retinopathy Neill-Dingwall syndrome Cockayne syndrome cls cls - coffin-lowry syndrome coffin lowry syndrome coffin-lowry syndrome, mild coffin-lowry syndrome, x-linked dominant Coffin-lowry syndrome CSS dwarfism-onychodysplasia fifth digit syndrome short stature-onychodysplasia. Coffin-Siris syndrome iris nevus syndrome nodular unilateral glaucoma Cogan-Reese syndrome cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness Cohen syndrome alopecia (capitis) totalis total alopecia Alopecia totalis CAD CAS chronic cold agglutinin disease cold agglutinin syndrome Cold agglutinin disease atrichia, generalised atrichia, generalized Alopecia universalis congenita common variable agammaglobulinemia cvid - common variable immunodeficiency secondary hypogammaglobulinemia sporadic hypogammaglobulinemia Common variable immunodeficiency compartmental syndrome Compartment syndrome CORD2 CRD2 CRX cone-rod dystrophy RCRD2 cone-rod dystrophy caused by mutation in CRX cone-rod dystrophy type 2 cone-rod retinal dystrophy 2 cone-rod retinal dystrophy-2 retinal cone-rod dystrophy 2 Cone-rod dystrophy 2 anti-thrombin iii deficiency antithrombin 3 deficiency antithrombin deficiency at (antithrombin) deficiency at iii deficiency at3d congenital antithrombin iii deficiency congenital at-iii deficiency decreased antithrombin iii hereditary thrombophilia due to congenital antithrombin 3 deficiency hereditary thrombophilia due to congenital antithrombin deficiency inherited antithrombin deficiency reduced antithrombin iii activity thrombophilia 7 due to antithrombin iii deficiency thrombophilia due to antithrombin 3 deficiency thrombophilia due to antithrombin iii deficiency Hereditary antithrombin deficiency Alopecia universalis onychodystrophy vitiligo cftdm congenital myopathy with fibre type disproportion Congenital myopathy with fiber type disproportion congenital atrioventricular block Congenital heart block congenital haemolytic anaemia congenital haemolytic anemia congenital hemolytic anaemia hereditary hemolytic anaemia neonatal hemolytic anaemia neonatal hemolytic anemia Familial hemolytic anemia polycystic kidney disease 4, with or without hepatic disease Polycystic kidney disease 4 hep homozygous porphyria cutanea tarda Hepatoerythropoietic porphyria deficiency of alpha-ketoglutarate dehydrogenase oxoglutarate dehydrogenase deficiency Oxoglutaricaciduria Ligneous conjunctivitis cdpx2 cdpxd chondrodysplasia punctata 2, x-linked dominant chondrodysplasia punctata caused by mutation in ebp chondrodysplasia punctata, conradi-hunermann type chondrodysplasia punctata, conradi-hünermann type chondrodysplasia punctata, x-linked dominant type chondrodysplasia punctata, x-linked dominant, x-linked dominant conrad hunermann happle syndrome conradi disease conradi hunermann syndrome conradi hünermann happle syndrome conradi hünermann syndrome conradi's syndrome conradi-hunermann syndrome conradi-hunermann-happle syndrome conradi-hünermann syndrome conradi-hünermann-happle syndrome cpxd ebp chondrodysplasia punctata happle syndrome hunermann-conradi syndrome x-linked chondrodysplasia punctata 2 x-linked chondrodysplasia punctata type 2 x-linked dominant chondrodysplasia punctata Chondrodysplasia punctata 2 X-linked dominant accessory atrium cor triatriatum sinistrum subdivided left atrium Triatrial heart autosomal recessive ched autosomal recessive congenital hereditary endothelial dystrophy ched ched ii - congenital hereditary endothelial dystrophy ii ched2 chedii congenital hereditary endothelial dystrophy type 2 congenital hereditary endothelial dystrophy, autosomal recessive form corneal endothelial dystrophy, autosomal recessive infantile hereditary endothelial dystrophy maumenee corneal dystrophy Congenital hereditary endothelial dystrophy of cornea type 1 syndactyly, microcephaly, intellectual disability syndrome type 1 syndactyly-microcephaly-intellectual disability syndrome Filippi syndrome cowden cowden's syndrome cs multiple hamartoma syndrome Cowden syndrome benign fasciculation cramp syndrome benign fasciculation-cramp syndrome syndrome of foley and denny-brown Cramp-fasciculation syndrome craniofacial dysostosis, type i crouzon craniofacial dysostosis Crouzon syndrome congenital ossification of cranial sutures congenital ossification of sutures of skull cranial suture synostosis craniostenosis craniostosis craniosyostosis cso - craniosynostosis deformity of the skull early fusion of cranial sutures premature closure of cranial sutures premature cranial suture closure premature suture closure Craniosynostosis syndrome alpha thalassaemia alpha thalassemia syndrome alpha-thalassemia thalassemia, alpha- thalassemias, alpha- Alpha thalassemia spectrum chromosome 5 short arm deletion syndrome cri-du-chat syndrome deletion 5p lejeune syndrome monosomy type 5p partial deletion of short arm of chromosome 5 syndrome 5p partial monosomy syndrome busse-buschke disease busse-buschke's disease cryptococcal infection cryptococcus neoformans caused disease or disorder cryptococcus neoformans disease or disorder cryptococcus neoformans infectious disease european blastomycosis european cryptococcosis infection by cryptococcus neoformans torula torulosis Cryptococcosis cortisol excess pituitary basophilism Cushing syndrome Cutaneous lupus erythematosus ctcl - cutaneous t-cell lymphoma cutaneous lymphoma cutaneous t-cell lymphoma Primary cutaneous t-cell lymphoma chalazoderma chalazodermia cutaneous laxity dermatochalasia dermatolysis dermatomegaly hanging skin hypoelastic skin inelastic skin lax skin loose and inelastic skin loose skin primary elastolysis skin laxity Cutis laxa cmtc cmtc - cutis marmorata telangiectatica congenita cutis marmorata telangiectasia congenita cutis marmorata telangiectatica congenita cutis marmorata telangiectatica congenita (disease) van lohuizen's syndrome Congenital livedo reticularis ch cn cyclically decreased total neutrophil count cyn neutropenia, cyclic neutropenia, periodic Cyclical neutropenia cf cf - cystic fibrosis cystic fibrosis lung disease, modifier of fibrocystic disease mucoviscidosis pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis Cystic fibrosis cystic hygroma of the neck cystic lymphangioma hygroma Cystic hygroma Protein defect of cystin transport cystine storage disease Cystinosis csnu - cystinuria cystinuria (disease) cystinuria, non-type i cystinuria-lysinuria syndrome high urine cystine levels nitroprusside-cyanide urine test positive Cystinuria alport syndrome 3, autosomal dominant alport syndrome 3a, autosomal dominant alport syndrome, autosomal dominant ats3a col4a3 alport syndrome and thin basement membrane nephropathy Autosomal dominant alport syndrome atresia of foramina of magendie and luschka dandy walker malformation dandy-walker deformity dandy-walker syndrome, isolated cases dws-related dandy walker syndrome Dandy-walker syndrome darier's disease darier-white disease dyskeratosis follicularis psorospermosis psorospermosis follicularis vegetans Keratosis follicularis degos' disease kohlmeier-degos disease kohlmeier-degos syndrome kohlmeier-degos-delort-tricort syndrome köhlmeier-degos disease köhlmeier-degos-delort-tricort syndrome lethal cutaneous and gastrointestinal arteriolar thrombosis malignant atrophic papulosis of degos map - malignant atrophic papulosis papulosis atrophican maligna Malignant atrophic papulosis alport syndrome 2, autosomal recessive alport syndrome, autosomal recessive ats2 col4a4 alport syndrome and thin basement membrane nephropathy Autosomal recessive alport syndrome break bone fever breakbone fever classic dengue dengue virus caused disease or disorder dengue virus disease or disorder dengue virus infection dengue virus infectious disease df Dengue disease dentinogenesis imperfecta (disease) dentinogenesis imperfecta without osteogenesis imperfecta dgi dgi without oi di hereditary opalescent dentin non-syndromic dentinogenesis imperfecta non-syndromic dgi opalescent teeth without oi opalescent teeth without osteogenesis imperfecta Dentinogenesis imperfecta dermatopolymyositis dm dm - dermatomyositis polymyositis with skin involvement wagner-unverricht syndrome Dermatomyositis desmoplas. small round cell tumor desmoplas. small round cell tumour desmoplastic small round cell tumour desmoplastic small round-cell tumour dsrct dsrct - desmoplastic small round cell tumor polyphenotypic small round cell tumour Desmoplastic small round cell tumor devic disease devic's disease devic's syndrome neuromyelitis optica spectrum disorder nmosd optic neuromyelitis smon - subacute myelo-optico-neuropathy Neuromyelitis optica aase syndrome aase-smith ii syndrome blackfan - diamond syndrome blackfan-diamond anaemia blackfan-diamond anemia chronic constitutional pure red cell anaemia chronic constitutional pure red cell anemia chronic constitutional pure red cell aplasia congenital dyserythropoietic anaemia congenital hypoplastic anaemia congenital hypoplastic anemia congenital hypoplastic anemia, blackfan-diamond type congenital prca congenital pure red cell anemia congenital red cell aplasia dba erythrogenesis imperfecta inherited erythroblastopenia Diamond-Blackfan anemia dd - diastrophic dysplasia diastrophic dwarf diastrophic dysplasia syndrome diastrophic nanism syndrome dtd - diastrophic dysplasia Diastrophic dysplasia Russell diencephalic cachexia Russell syndrome diencephalic cachexia diencephalic syndrome of childhood diencephalic syndrome of emaciation diencephalic syndrome of infancy Diencephalic syndrome dracontiasis dracontiasis - guinea-worm dracunculosis dracunculus medinensis caused disease or disorder dracunculus medinensis disease or disorder dracunculus medinensis infectious disease guinea-worm infection infection caused by dracunculus medinensis medina worm disease medinensis Infection by Dracunculus medinensis drs duane's retraction syndrome duane's syndrome durs eye retraction syndrome globe retraction and deviation on adduction limited eye motility from duane anomaly limited eye movement from duane anomaly stilling-turk-duane syndrome Duane retraction syndrome Dubowitz's syndrome Dubowitz syndrome dmd dmd - duchenne muscular dystrophy duchenne muscular dystrophy, x-linked recessive muscular dystrophy, duchenne pseudohypertrophic muscular dystrophy severe dystrophinopathy, duchenne type Duchenne muscular dystrophy dmc disease dyggve melchior clausen syndrome dyggve-melchior-clausen dysplasia pseudo-morquio disease type i Dyggve-Melchior-Clausen syndrome dyskeratosis congenita, autosomal dominant type 1 Dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita, autosomal recessive type 1 Dyskeratosis congenita, autosomal recessive 1 autosomal recessive dystrophic epidermolysis bullosa generalisata gravis autosomal recessive dystrophic epidermolysis bullosa, hallopeau-siemens type autosomal recessive generalized dystrophic epidermolysis bullosa, severe form dysplastic epidermolysis bullosa dystrophica ebd inversa epidermolysis bullosa distrophica autosomal recessive (rdeb) epidermolysis bullosa dystrophica, ar epidermolysis bullosa dystrophica, autosomal recessive, modifier of generalized rdeb, severe form hallopeau-siemens disease polydysplastic epidermolysis bullosa rdeb generalisata gravis rdeb, hallopeau-siemens type rdeb-sev gen Recessive dystrophic epidermolysis bullosa eales' disease idiopathic retinal perivasculitis idiopathic retinal vasculitis Eales disease ebstein anomaly (disease) ebstein anomaly of the tricuspid valve ebstein anomaly of tricuspid valve ebstein malformation of the tricuspid valve ebstein's anomaly (disorder) [ambiguous] ebstein's anomaly of common atrioventricular valve ebstein's anomaly of right atrioventricular valve ebstein's anomaly of the tricuspid valve ebstein's anomaly of tricuspid valve ebstein's malformation of tricuspid valve ebsteins anomaly Ebstein anomaly congenital ectodermal defect ectodermal dysplasia (select examples) ectodermal dysplasia syndrome Ectodermal dysplasia cleft hand fewer digits lobster claw deformity lobster claw hand lobster-claw deformity shfm split hand foot malformation split hand-foot malformation split hand/split foot malformation split-hand deformity Ectrodactyly E3 trisomy Edwards syndrome chromosome 18 duplication complete trisomy 18 syndrome trisomy type 18 Trisomy 18 cutis elastica cutis hyperelastica cutis hyperelastica dermatorrhexis danlos disease danlos disease, ehlers danlos ehlers syndrome disease, ehlers danlos disease, ehlers-danlos dystrophia mesodermalis congenita eds ehler danlos syndrome ehlers danlos disease ehlers danlos syndrome ehlers-danlos disease ehlers-danlos syndromes elastic skin fibrodysplasia elastica generalisata hereditary collagen dysplasia india rubber skin meekeren-ehlers-danlos syndrome skin elastic syndrome, ehlers-danlos Ehlers-Danlos syndrome eisenmenger complex eisenmenger's complex Eisenmenger syndrome benign scapuloperoneal muscular dystrophy with early contractures emd - emery-dreifuss muscular dystrophy emery dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy epidemic encephalitis lethargic encephalitis von economo disease von economo encephalitis von economo's disease von economo's encephalitis Encephalitis lethargica Isolated encephalocele efe - endocardial fibroelastosis elastomyofibrosis Endocardial fibroelastosis endocarditis infective ie - infective endocarditis infectious endocarditis Infective endocarditis empty sella syndrome endometrial sarcoma endometrial stromal sarcoma, high grade endometrial stromal sarcomas ess sarcomas, endometrial stromal stromal sarcoma of the corpus uteri stromal sarcoma, endometrial stromal sarcoma, endometrial, malignant stromal sarcomas, endometrial undifferentiated endometrial sarcoma Endometrial stromal sarcoma amaurosis congenita of leber crb - congenital retinal blindness lca leber amaurosis leber's amaurosis leber's congenital amaurosis leber's disease Leber congenital amaurosis african endomyocardial fibrosis endocardial fibrosis endomyocardial sclerosis obscure african cardiomyopathy Endomyocardial fibrosis ems - eosinophilia myalgia syndrome eosinophilia-myalgia syndrome Eosinophilia myalgia syndrome diffuse fasciitis with eosinophilia eosinophilic fasciitis (disease) shulman syndrome shulman's syndrome Fasciitis with eosinophilia syndrome embryonal neoplasm with multilayered rosettes etmr - embryonal tumor with multilayered rosettes Embryonal tumor with multilayered rosettes benign ependymoma cellular ependymoma (histologic variant) classic ependymoma epithelial ependymoma Ependymoma disorder caused by venezuelan equine encephalitis virus venezuelan equine encephalitis venezuelan equine encephalitis virus caused disease or disorder venezuelan equine encephalitis virus disease or disorder venezuelan equine encephalitis virus infectious disease Venezuelan equine encephalitis virus infection lewandowsky-lutz disease lewandowsky-lutz syndrome lutz-lewandowsky epidermodysplasia verruciformis Epidermodysplasia verruciformis acantholysis bullosa acanthosis bullosa bullous recurrent eruption dermatitis bullosa hereditaria eb - epidermolysis bullosa fox disease keratolysis bullosa hereditaria Epidermolysis bullosa amaurosis congenita of leber ii lca2 leber congenital amaurosis caused by mutation in rpe65 leber congenital amaurosis type 2 rpe65 leber congenital amaurosis rpe65-related leber congenital amaurosis Leber congenital amaurosis 2 eba eba - epidermolysis bullosa acquisita epidermolysis bullosa aquisita Acquired epidermolysis bullosa erdheim-chester syndrome Erdheim-Chester disease Amaurosis-hypertrichosis syndrome erythromelalgia type ii perythm scn9a-related inherited erythromelalgia Primary erythromelalgia abnormal connection between trachea and esophagus abnormal connection between trachea and oesophagus esophageal atresia esophageal atresia and/or tracheoesophageal fistula tof - tracheoesophageal fistula tracheoesophageal fistula with or without esohageal atresia Esophageal atresia/tracheoesophageal fistula carcinoma of the oesophagus oesophageal carcinoma oesophagus carcinoma Carcinoma of esophagus MC essential cryoglobulinemia essential mixed cryoglobulinemia mixed cryoglobulinemia primary cryoglobulinemia Cryoglobulinemic vasculitis Evans' syndrome autoimmune hemolytic anaemia and autoimmune thrombocytopenia autoimmune hemolytic anemia and autoimmune thrombocytopenia immune pancytopenia Evans syndrome ewing's family localised tumour ewing's family localized tumor ewing's tumour ewings sarcoma osseous ewing sarcoma pnet of thoracopulmonary region skeletal ewing sarcoma Ewing sarcoma eian exercise anaphylaxis exercise-induced anaphylaxis Exercise induced anaphylaxis bladder exstrophy (disease) bladder exstrophy-epispadias-cloacal exstrophy complex classic exstrophy of the bladder congenital ectopic bladder congenital extroversion of urinary bladder ectopia vesicae exstrophy of bladder sequence exstrophy of urinary bladder exstrophy of urinary bladder sequence Bladder exstrophy deafness with skeletal dysplasia and lip granuloma syndrome deafness, skeletal dysplasia, coarse face with full lips syndrome deafness-skeletal dysplasia-coarse face with full lips syndrome deafness-skeletal dysplasia-lip granuloma syndrome hearing loss-skeletal dysplasia-coarse face with full lips syndrome hearing loss-skeletal dysplasia-lip granuloma syndrome Fountain syndrome CAMT1 amegakaryocytic thrombocytopenia, congenital 1 congenital amegakaryocytic thrombocytopenic purpura thrombocytopenia, congenital amegakaryocytic Congenital amegakaryocytic thrombocytopenia 1 alpha galactosidase deficiency alpha-galactosidase-a deficiency anderson-fabry disease angiokeratoma corporis diffusum angiokeratoma corporis diffusum universale atypical variants of fabry disease cardiovasorenal syndrome ceramide lactoside lipidosis ceramide trihexosidosis classic fabry disease deficiency of alpha-galactosidase deficiency of melibiase diffuse angiokeratoma fabry syndrome fabry's disease fd lactosyl ceramidosis ruiter-pompen syndrome sweeley-klionsky disease thesaurismosis hereditaria thesaurismosis lipoidica Fabry disease congenital stuart factor deficiency disease, stuart-prower hereditary factor x deficiency disease hereditary stuart factor deficiency disease hereditary stuart-prower deficiency disease Congenital factor x deficiency acquired f8 deficiency acquired hemophilia a aha Acquired factor VIII deficiency disease BSPDC PFBC basal ganglia calcification basal ganglia degeneration with calcification cerebrovascular ferrocalcinosis primary familial brain calcification Bilateral striopallidodentate calcinosis adenomatous polyposis adenomatous polyposis of the colon classic fap colorectal adenomatous polyposis familial intestinal polyposis familial multiple polyposis syndrome familial polyposis familial polyposis coli fap fap - familial adenomatous polyposis fpc - familial polyposis coli map - myh associated polyposis myh-associated polyposis Classic familial adenomatous polyposis Familial chylomicronemia syndrome benign paroxysmal peritonitis benign recurrent polyserositis familial mediterranean fever type 1 familial mediterranean fever type 2 familial paroxysmal polyserositis familial recurrent polyserositis fiebre mediterránea familiar fmf fmf - familial mediterranean fever mef - familial mediterranean fever paroxysmal polyserositis periodic disease periodic familial peritonitis periodic peritonitis periodic polyserositis polyserositis, familial paroxysmal polyserositis, recurrent recurrent polyserositis Familial mediterranean fever fa fanconi pancytopenia fanconi pancytopenia syndrome fanconi panmyelopathy fanconi's anaemia fanconi's familial refractory anemia fanconi's hypoplastic anemia Fanconi anemia acid ceramidase deficiency acylsphingosine deacylase deficiency disseminated lipogranulomatosis farber disease farber's lipogranulomatosis farber-uzman syndrome Farber lipogranulomatosis farmer lung farmers' lung farmers' lung disease moldy hay disease moldy hay hypersensitivity pneumonitis moldy-hay disease Farmers lung ffi - familial fatal insomnia Fatal familial insomnia fibrous dysplasia of the bones jaffe-lichtenstein syndrome osteitis fibrosa Fibrous dysplasia diffuse progressive ossifying polymyositis fibrodysplasia ossificans congenita fop fop - fibrodysplasia ossificans progressiva münchmeyer disease progressive ossifying myositis stone man syndrome Progressive myositis ossificans Severe primary trimethylaminuria amelogenesis imperfecta - hypoplastic amelogenesis imperfecta, hypoplastic type hypoplastic amelogenesis imperfecta Amelogenesis imperfecta type 1 fed fed - fish-eye disease fish eye disease partial lcat (lecithin-cholesterol acyltransferase) deficiency partial lcat deficiency Fish-eye disease Floating Harbor Syndrome Floating-harbor syndrome fdh - focal dermal hypoplasia focal dermal hypoplasia, x-linked dominant fodh - focal dermal hypoplasia goltz syndrome goltz-gorlin syndrome Focal dermal hypoplasia dystonia, focal, task-specific ftsd musician's cramp Occupational dystonia ai1g aigfs amelogenesis imperfecta and gingival fibromatosis syndrome amelogenesis imperfecta caused by mutation in fam20a amelogenesis imperfecta hypoplastic with nephrocalcinosis amelogenesis imperfecta type ig amelogenesis imperfecta, hypoplastic, and nephrocalcinosis amelogenesis imperfecta, nephrocalcinosis and impaired renal concentration amelogenesis imperfecta, type ig (enamel-renal syndrome) amelogenesis imperfecta-gingival hyperplasia syndrome enamel-renal syndrome enamel-renal-gingival syndrome ers fam20a amelogenesis imperfecta mcgibbon lubinsky syndrome Amelogenesis imperfecta type 1G fragile x intellectual disability syndrome fragile x syndrome, type a fragile x syndrome, x-linked dominant frax syndrome fraxa (fragile x) syndrome fraxa syndrome fxs marker x syndrome martin-bell syndrome Fragile x syndrome cryptophthalmos, defect of auricle and genital anomaly Fraser syndrome arthrogryposis, distal, type 2a (freeman-sheldon) craniocarpotarsal dystrophy freeman-burian syndrome whistling face syndrome whistling face-windmill vane hand syndrome Freeman-sheldon syndrome fa fa - friedreich ataxia familial ataxia frda frda - friedreich ataxia friedreich's disease friedreich's tabes Friedreich ataxia ameloonychohypohidrotic ectodermal dysplasia Ameloonychohypohidrotic syndrome benign fructosemia deficiency of fructokinase deficiency of ketohexokinase ef - essential fructosemia essential benign fructosuria essential fructosemia fructokinase deficiency fructosuria fructosuria, essential ketohexokinase deficiency Essential fructosuria a-fucosidase deficiency alpha fucosidase deficiency alpha-l-fucosidase deficiency fucosidase deficiency Fucosidosis cerebromuscular dystrophy, fukuyama type congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a4 fcmd fktn-related congenital muscular dystrophy fukuyama congenital muscular dystrophy fukuyama muscular dystrophy fukuyama type congenital muscular dystrophy mddga4 muscle-eye-brain-fktn related muscular dystrophy, congenital progressive, with mental retardation muscular dystrophy, congenital, with central nervous system involvement walker-warburg syndrome or muscle-eye-brain disease, fktn-related walker-warburg syndrome, fktn-related Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 4 fumaric aciduria Fumarase deficiency deficiency of beta-galactosidase isoenzymes a, b and c generalized gangliosidosis gm1 gangliosidosis type 1 gm>1< gangliosidosis, type 1 infantile gangliosidosis with bony involvement infantile gm>1< gangliosidosis norman-landing disease Infantile GM1 gangliosidosis auto-erythrocyte sensitization syndrome autoerythrocyte sensitivity disorder factitious purpura gardner-diamond syndrome gds painful bruising syndrome psychogenic purpura Autoerythrocyte sensitization syndrome gs gs - gardner's syndrome Gardner syndrome extranodal marginal zone b-cell lymphoma extranodal marginal zone b-cell lymphoma of mucosa-associated lymphoid tissue (malt-lymphoma) immunocytoma lymphoma of mucosa-associated lymphoid tissue lymphoma, malt, somatic malt lymphoma, somatic malt-lymphoma mucosa-associated lymphatic tissue lymphoma Mucosa-associated lymphoma dermatitis herpetiformis of pregnancy Herpes gestationis gestational trophoblastic neoplasia gestational trophoblastic tumour gtn gtt persistent gestational trophoblastic disease persistent trophoblastic disease Gestational trophoblastic neoplasm galloway syndrome microcephaly, hiatal hernia and nephrotic syndrome microcephaly, hiatus hernia, nephrotic syndrome microcephaly-hiatus hernia-nephrotic syndrome nephrosis, neuronal dysmigration syndrome nephrosis-microcephaly syndrome nephrosis-neuronal dysmigration syndrome spinocerebellar ataxia, autosomal recessive 5 Galloway-Mowat syndrome gan gan giant axonal neuropathy giant axonal neuropathy caused by mutation in gan giant axonal neuropathy type 1 giant axonal neuropathy-1 Giant axonal neuropathy 1 Giant cell myocarditis genetic giant giant giantism hypophyseal gigantism infantile and juvenile forms of acromegaly normal giant pituitary gigantism primordial giant Gigantism SOS1 gingival fibromatosis SOS1 hereditary gingival fibromatosis fibromatosis, gingival, type 1 gingival fibromatosis caused by mutation in SOS1 hereditary gingival fibromatosis caused by mutation in SOS1 Fibromatosis, gingival, 1 glial tumour neuroglial tumour tumour of neuroglia tumour of the neuroglia Glioma gliomatosis cerebri (morphologic abnormality) Gliomatosis cerebri glomerular nephritis glomerulonephritis (disease) gn - glomerulonephritis nephritis of renal glomerulus renal glomerulus nephritis Glomerulonephritis fgs fgs (focal glomerular sclerosis) fgs - focal glomerulosclerosis focal and segmental glomerular sclerosis focal and segmental glomerulosclerosis focal glomerular sclerosis focal glomerulosclerosis focal sclerosis with hyalinosis fsgs glomerulosclerosis, focal Focal segmental glomerulosclerosis Glossovasopharyngeal neuralgia glossopharyngeal nerve neuralgia neuralgia of glossopharyngeal nerve Glossopharyngeal neuralgia anemia, congenital, nonspherocytic hemolytic, 1 anemia, congenital, nonspherocytic hemolytic, 1, g6pd deficient class i g6pd deficiency class i glucose-6-phosphate dehydrogenase deficiency cnsha1 favism, susceptibility to hemolytic anaemia due to g6pd deficiency hemolytic anemia due to g6pd deficiency hemolytic anemia, g6pd deficient (favism), x-linked dominant severe hemolytic anaemia due to g6pd deficiency severe hemolytic anemia due to g6pd deficiency Anemia, nonspherocytic hemolytic, due to g6pd deficiency congenital glucose-galactose malabsorption sglt1 deficiency Glucose-galactose malabsorption ga i ga i - glutaric aciduria type 1 ga1 gcdh-gene related glutaryl-coenzyme a dehydrogenase deficiency gcdhd glutaric aciduria type 1 glutaric aciduria, type 1 glutaricacidemia type 1 glutaricaciduria, type i glutaryl-coenzyme a dehydrogenase deficiency Glutaryl-coa dehydrogenase deficiency electron transfer flavoprotein deficiency electron transfer flavoprotein ubiquinone oxidoreductase deficiency ga ii glutaric acidemia type ii glutaric acidemia, type 2 glutaric aciduria type 2 glutaric aciduria type ii glutaric aciduria, type 2 mad - multiple acyl-coa dehydrogenase deficiency mad deficiency madd madd - multiple acyl-coa dehydrogenase deficiency Multiple acyl-coa dehydrogenase deficiency glycogen storage disease caused by mutation in pygm glycogen storage disease type 5 glycogen storage disease, type v glycogenosis due to muscle glycogen phosphorylase deficiency glycogenosis type 5 glycogenosis type v glycogenosis, type 5 gsd due to muscle glycogen phosphorylase deficiency gsd type 5 gsd type v gsd v mcardle disease mcardle's disease myophosphorylase deficiency myophosphorylase deficiency glycogenosis pygm glycogen storage disease Glycogen storage disease v glycogen storage disease caused by mutation in pygl glycogen storage disease type 6 glycogen storage disease type 6, due to phosphorylation glycogen storage disease vi glycogenosis due to liver glycogen phosphorylase deficiency glycogenosis type 6 glycogenosis type vi gsd due to liver glycogen phosphorylase deficiency gsd type 6 gsd type vi gsd vi hepatic glycogen phosphorylase deficiency hepatic phosphorylase deficiency hepatophosphorylase deficiency glycogenosis hers disease hers' disease liver glycogen phosphorylase deficiency pygl glycogen storage disease Glycogen storage disease, type VI 3-mercaptopyruvate sulfurtransferase deficiency Ampola syndrome Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria gorham disease gorham syndrome gorham's disease hemangiomata with osteolysis idiopathic massive osteolysis massive osteolysis osteolysis and angiomatous nevi phantom bone disease progressive massive osteolysis vanishing bone disease Gorham-stout disease acrogeria acrogeria, gottron type acrometageria gottron syndrome Metageria acute graft vs. host disease acute graft-versus-host disease graft versus host disease, acute gvhd, acute Acute graft versus host disease Granulocytopenic disorder Granulopenia granulocytopenia Agranulocytosis gcps polysyndactyly with peculiars skull shape Greig cephalopolysyndactyly syndrome acute postinfectious polyneuropathy gbs guillain-barre-strohl syndrome guillain-barré-strohl syndrome landry-guillain-barre syndrome landry-guillain-barré syndrome Guillain-Barre syndrome gacr gyrate atrophy of choroid and retina with or without ornithinemia gyrate atrophy of the choroid and/or retina gyrate atrophy of the retina hoga hyperornithinemia hyperornithinemia-gyrate atrophy of choroid and retina syndrome ornithinemia with gyrate atrophy Ornithine aminotransferase deficiency congenital hageman factor deficiency deficiency, hageman factor xii deficiency disease hageman factor deficiency reduced factor xii activity Congenital factor xii deficiency benign chronic familial pemphigus of hailey-hailey benign chronic pemphigus benign familial chronic pemphigus hailey hailey disease hhd pemphigus, benign familial Familial benign pemphigus hairy cell leukemia (clinical) hcl hcl - hairy cell leukemia hcl-c lre - leukemic reticuloendotheliosis Hairy cell leukemia harp syndrome nbia1 neurodegeneration with brain iron accumulation 1 neurodegeneration with brain iron accumulation type 1 pigmentary pallidal atrophy pkan Pigmentary pallidal degeneration arci4b autosomal recessive congenital ichthyosis type 4b harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis hi ichthyosis , congenital, autosomal recessive 4b (harlequin) ichthyosis congenita, harlequin type ichthyosis fetalis, harlequin type ichthyosis, congenital, autosomal recessive 4b (harlequin) ichthyosis, congenital, autosomal recessive type 4b Autosomal recessive congenital ichthyosis 4B Hartnup disorder aminoaciduria, Hartnup type deficiency of tryptophan oxygenase neutral 1 amino acid transport defect neutral amino acid transport defect Hartnup disease aec - ankyloblepharon, ectodermal defects, cleft lip and palate aec syndrome ankyloblepharon, ectodermal defects, cleft lip and palate ankyloblepharon-ectodermal defects, cleft lip/palate ankyloblepharon-ectodermal defects-cleft lip and palate syndrome ankyloblepharon-ectodermal dysplasia-clefting syndrome hay wells syndrome of ectodermal dysplasia hay-wells syndrome hay-wells syndrome of ectodermal dysplasia Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome double heterozygous for hb s and hb d hbs-hbc disease hbsc disease hemoglobin s-c disease hemoglobin s/c hemoglobin s/c disease hemoglobin sc sickle cell anemia with hemoglobin c disease sickle cell hemoglobin c sickle cell-hemoglobin c disease syndrome Sickle cell-hemoglobin C disease familial erythrophagocytic lymphohistiocytosis familial hemophagocytic histiocytosis familial hemophagocytic reticulosis familial histiocytic reticulosis familial hlh fel - familial erythrophagocytic lymphohistiocytosis fhl fhl - familial hemophagocytic lymphohistiocytosis genetic hemophagocytic syndrome hereditary hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis fhl1 Familial hemophagocytic lymphohistiocytosis type 1 ahg deficiency disease congenital f8 deficiency congenital factor viii deficiency congenital factor viii deficiency disease congenital factor viii disorder congenital fviii deficiency factor 8 deficiency, congenital factor viii deficiency haemophilia a, x-linked recessive haemophilia type a hemophilia a, x-linked recessive hemophilia type a hereditary factor viii deficiency disease sex-linked factor viii deficiency subhemophilia Hemophilia a essential hemorrhagic thrombocythemia essential thrombocythaemia essential thrombocythemia (clinical disorder) hemorrhagic thrombocythemia idiopathic hemorrhagic thrombocythemia suspected essential thromboythemia Essential thrombocythemia adult hcc adult hcc (hepatocellular carcinoma) hepatocellular carcinoma of adults Adult hepatocellular carcinoma hereditary amyloidosis (disease) Hereditary amyloidosis CLN9 neuronal ceroid lipofuscinosis type 9 Neuronal ceroid lipofuscinosis 9 berger-goldberg syndrome coproporphyrinogen oxidase deficiency cpo - coproporphyrinogen oxidase deficiency hcp - hereditary coproporphyria hereditary coproporphyria porphyria Hereditary coproporphyria congenital elliptocytosis hashimoto encephalopathy he he - hereditary elliptocytosis hereditary ovalocytosis ovalocytosis Hereditary elliptocytosis aldb - aldolase b deficiency aldb deficiency fructosaemia fructose intolerance, hereditary fructose malabsorption fructose-biphosphate aldolase b deficiency fructosemia hereditary fructose intolerance syndrome hereditary fructose-1-phosphate aldolase deficiency hereditary fructosemia hereditary fructosuria Hereditary fructose intolerance hht hht - hereditary hemorrhagic telangiectasia orw disease osler hemorrhagic telangiectasia syndrome osler weber rendu syndrome osler-rendu-weber disease osler-rendu-weber syndrome rendu-osler disease rendu-osler-weber disease telangiectasia, hereditary hemorrhagic Hereditary hemorrhagic telangiectasia familial chronic pancreatitis Hereditary chronic pancreatitis acrodystrophic neuropathy autosomal dominant sensory neuropathy dominant hereditary sensory neuropathy, type i hereditary sensory and autonomic neuropathy type i hereditary sensory and autonomic neuropathy, type i hereditary sensory neuropathy type i hsan1 hsn type i Hereditary sensory and autonomic neuropathy type 1 familial spastic paraplegia familial spastic paraplegia syndrome french settlement disease hereditary spastic paraparesis hsp hsp - hereditary spastic paraplegia spastic congenital paraplegia spg strumpell-lorrain disease strümpell-lorrain disease Hereditary spastic paraplegia congenital spherocytic hemolytic anaemia congenital spherocytic hemolytic anemia familial acholuric jaundice familial spherocytosis hs - hereditary spherocytosis minkowski chauffard syndrome minkowski-chauffard disease minkowsky-chauffard syndrome sph spherocytic anaemia spherocytic anemia Hereditary spherocytosis thyroid carcinoma, anaplastic, somatic thyroid gland undifferentiated carcinoma undifferentiated (anaplastic) thyroid gland cancer undifferentiated thyroid tumor undifferentiated thyroid tumour Thyroid gland undifferentiated (anaplastic) carcinoma albinism with hemorrhagic diathesis albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells alpha storage pool disease hepatopulmonary syndrome hps hps (hermansky pudlak syndrome) Hermansky-Pudlak syndrome encephalitis caused by herpesviridae encephalitis caused by herpesvirus encephalitis, herpes simplex herpes encephalitis herpes simplex meningo-encephalitis herpes simplex neuroinvasion herpetic encephalitis hse hsv encephalitis hsve simplexvirus caused infectious encephalitis simplexvirus infectious encephalitis Herpes simplex encephalitis chronic hiccough chronic hiccoughs hiccups, chronic Chronic hiccup aganglionosis colonic aganglionosis congenital aganglionic megacolon congenital intestinal aganglionosis congenital megacolon enlarged colon lacking nerve cells hd - hirschsprung's disease hirschsprung disease susceptibility hirschsprung megacolon hscr pelvirectal achalasia Aganglionic megacolon deficiency of histidase deficiency of histidinase deficiency of histidine a-deaminase deficiency of histidine ammonia-lyase hal deficiency high blood histidine level his deficiency histidase deficiency histidine ammonia-lyase deficiency histidinuria hyperhistidinemia Histidinemia arhinencephaly familial alobar holoprosencephaly holoprosencephaly, familial alobar hpe hpe - holoprosencephaly hpe, familial single brain ventricle Holoprosencephaly sequence atriodigital dysplasia type 1 heart-hand syndrome type 1 holt oram syndrome hos tbx5-related holt-oram syndrome Holt-oram syndrome cystathionine beta-synthase deficiency deficiency of beta-thionase deficiency of methylcysteine synthase deficiency of serine sulfhydrase homocystinuria caused by cystathionine beta-synthase deficiency homocystinuria due to cystathionine beta-synthase deficiency homocystinuria, b6-responsive and nonresponsive types thrombosis, hyperhomocysteinemic Classic homocystinuria congenital claude bernard horner syndrome congenital claude-bernard-horner syndrome congenital horner syndrome (disease) Congenital horner syndrome attenuated mps (subtype deficiency of iduronate-2-sulfatase deficiency of iduronate-2-sulphatase formerly known as mild mps ii) hunter disease hunter's syndrome i2s deficiency ids deficiency iduronate 2-sulfatase deficiency iduronate sulfatase deficiency mps 2 mps 2 - mucopolysaccharidosis 2 mps ii mps ii - hunter syndrome mps2 mpsii mpsii - mucopolysaccharidosis type ii mucopolysaccharidosis ii mucopolysaccharidosis ii, x-linked recessive mucopolysaccharidosis, mps-ii mucopolysaccharidosis, type 2 mucopolysaccharidosis, type ii severe mps ii sids deficiency sulfo-iduronate sulfatase deficiency sulfoiduronate sulfatase deficiency sulfoiduronidate sulfatase deficiency Mucopolysaccharidosis type 2 chronic progressive chorea chronic progressive hereditary chorea hc - huntington chorea hd hd - huntington chorea huntington chorea Huntington disease anaemia sideroblastic and spinocerebellar ataxia anemia sideroblastic and spinocerebellar ataxia anemia, sideroblastic, with ataxia, x-linked recessive asat pagon-bird-detter syndrome scax6 sideroblastic anaemia with spinocerebellar ataxia sideroblastic anemia with spinocerebellar ataxia spinocerebellar ataxia, x-linked 6, with or without sideroblastic anemia x-linked sideroblastic anaemia with spinocerebellar ataxia x-linked sideroblastic anemia with spinocerebellar ataxia X-linked sideroblastic anemia with ataxia congenital absence of cerebral hemispheres hydrancephaly hydranencephaly (disease) Hydranencephaly congenital dilatation of cerebral ventricles congenital hydrencephalus congenital hydrencephaly congenital hydrocephaly hydrocephalus in newborn primary hydrocephalus primary hydrocephaly Congenital hydrocephalus Salonen-Herva-Norio syndrome Hydrolethalus syndrome Neural tube defects, x-linked Aneurysm of sinus of valsalva apolipoprotein e deficiency broad-beta disease broad-betalipoproteinemia carbohydrate induced hyperlipemia dyslipidaemia type 3 dyslipidemia type 3 familial dysbetalipoproteinemia familial dyslipidemia type 3 familial hyperbetalipoproteinemia and hyperprebetalipoproteinemia familial hyperlipoproteinemia type 3 floating beta disease fredrickson type iii hyperlipoproteinemia hlp type 3 hyperlipidemia type 3 hyperlipoproteinemia type 3 hyperlipoproteinemia type iii primary dysbetalipoproteinemia remnant disease remnant hyperlipoproteinemia Familial type 3 hyperlipoproteinemia familial apoa5 deficiency familial apolipoprotein a-v deficiency familial apolipoprotein a5 deficiency familial hyperlipoproteinemia type v familial type v hyperlipoproteinemia fredrickson type v hyperlipoproteinemia fredrickson type v lipaemia hlp type 5 hyperlipoproteinemia type v major hyperlipidemia Familial type 5 hyperlipoproteinemia asped asped - angel-shaped phalango-epiphyseal dysplasia Angel-shaped phalango-epiphyseal dysplasia 1-pyrroline-5-carboxylate dehydrogenase activity disease aldh4a1 hyperprolinemia deficiency of pyrroline-5-carboxylate reductase delta'-pyrroline-5-carboxylate dehydrogenase deficiency delta-1-pyrroline-5-carboxylate dehydrogenase deficiency delta1-pyrroline-5-carboxylate dehydrogenase deficiency disorder of 1-pyrroline-5-carboxylate dehydrogenase activity hyperprolinemia caused by mutation in aldh4a1 hyperprolinemia type ii pyrroline-5-carboxylate reductase deficiency Hyperprolinemia type 2 hypochondrodysplasia Hypochondroplasia anti-c1q vasculitis hypocomplementemic vasculitis mac duffie hypocomplementemic urticarial vasculitis mac duffie syndrome mcduffie hypocomplementemic urticarial vasculitis mcduffie syndrome Hypocomplementemic urticarial vasculitis familial hypokalemic periodic paralysis familial periodic paralysis (& [hypokalaemic]) hkpp hokpp hokpp - hypokalemic periodic paralysis hypokalemic familial periodic paralysis hypopp periodic hypokalemic paralysis westphall disease Hypokalemic periodic paralysis decreased parathyroid hormone secretion deficiency of parathyrin deficiency of parathyroid hormone deficiency of pth (parathyroid hormone) low parathyroid hormone Hypoparathyroidism alkaline phosphatase deficiency deficiency of alkaline phosphatase deficiency of alkaline phosphatase (disorder) [ambiguous] hpp phosphoethanolaminuria rathbun disease rathburn disease Hypophosphatasia Hereditary hypophosphatemic rickets panhypopituitarism - x-linked x-linked panhypopituitarism Panhypopituitarism, x-linked heart left ventricle hypoplasia hlh - hypoplastic left heart syndrome hlhs hlhs - hypoplastic left heart syndrome hypoplastic left heart left ventricular hypoplasia underdeveloped left heart Hypoplastic left heart syndrome i-cell disease ml ii alpha/beta mucolipidosis ii mucolipidosis type ii alpha/beta n-acetylglucosamine 1-phosphotransferase deficiency Mucolipidosis type ii dominant ichthyosis vulgaris ichthyosis simplex Ichthyosis vulgaris Idiopathic pulmonary artery dilatation hereditary neurocutaneous angioma hereditary neurocutaneous vascular malformations Hereditary neurocutaneous angiomata idiopathic osteoporosis ijo juvenile osteoporosis paediatric osteoporosis Idiopathic juvenile osteoporosis brown induration brown induration of lung brown lung iph - idiopathic pulmonary hemosiderosis pulmonary hemosiderosis pulmonary siderosis Idiopathic pulmonary hemosiderosis absent anus anorectal stenosis anus, imperforate aproctia atresia ani congenital atresia of anus congenital imperforate anus congenital or infantile occlusion of anus Imperforate anus amino acid disorder amino acidopathy disorders of amino acid transport and metabolism inborn cellular amino acid metabolic process disorder inborn disorder of amino acid metabolism inborn error of amino acid metabolism inborn error of cellular amino acid metabolic process inborn errors of amino acid metabolism inherited amino acid metabolic disorder rare inborn error of cellular amino acid metabolic process Disorder of amino acid metabolism bloch-siemens syndrome bloch-sulzberger syndrome incontinentia pigmenti of bloch-sulzberger incontinentia pigmenti syndrome incontinentia pigmenti, x-linked dominant ip - incontinentia pigmenti Incontinentia pigmenti apnea of infancy Infantile apnea Chronic intestinal pseudo-obstruction. intestine pseudoobstruction pseudo-obstruction of intestine Intestinal pseudo-obstruction fhi fuch's heterochromic iridocyclitis fuchs heterochromic cyclitis fuchs heterochromic uveitis fuchs uveitis syndrome fuchs' heterochromic cyclitis fuchs' heterochromic iridocyclitis fuchs' heterochromic uveitis Fuchs heterochromic iridocyclitis acquired neuromyotonia continuous muscle fiber activity continuous muscle fiber activity syndrome continuous muscle fibre activity syndrome isaacs' syndrome isaacs-mertens syndrome peripheral nerve hyperexcitability quantal squander syndrome Isaac syndrome asplenia with cardiovascular anomalies isomerism of right atrial appendage ivemark syndrome right atrial isomerism (disease) right atrial isomerism (ivemark) right sided atrial isomerism Right atrial isomerism JWS craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome Jackson-weiss syndrome encephalitis, japanese jbe - japanese b encephalitis je - japanese encephalitis Japanese encephalitis virus disease Jarcho-Levin syndrome spondylocostal dysostosis, autosomal recessive Autosomal recessive spondylocostal dysostosis aglossia-adactylia syndrome hanhart syndrome hypoglossia-hypodactyly syndrome jussieu syndrome Aglossia-adactyly syndrome ad hyperimmunoglobulin e syndrome ad-hies autosomal dominant hies autosomal dominant hyper ige syndrome autosomal dominant hyper-ige syndrome autosomal dominant hyper-ige syndrome due to stat3 deficiency autosomal dominant hyperimmunoglobulin e syndrome autosomal dominant hyperimmunoglobulin e syndrome due to signal transducer and activator of transcription 3 protein deficiency buckley syndrome hies autosomal dominant hies, autosomal dominant hyper ig e syndrome, autosomal dominant hyper-ige recurrent infection syndrome 1 hyper-ige recurrent infection syndrome, autosomal dominant hyper-ige syndrome 1, autosomal dominant, with recurrent infections hyper-ige syndrome, autosomal dominant hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant hyperimmunoglobulin e syndrome type 1 immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist job syndrome autosomal dominant job's syndrome Hyper-ige recurrent infection syndrome 1, autosomal dominant autosomal dominant striatonigral degeneration azorean disease of the nervous system machado disease machado joseph disease mjd mjd - machado-joseph disease nigro-spino-dentatal degeneration with nuclear ophthalmoplegia portuguese-azorean disease sca3 spinocerebellar ataxia 3 spinocerebellar atrophy iii Azorean disease cerebelloparenchymal disorder iv classic joubert syndrome cpd iv familial aplasia of the vermis jbts joubert syndrome type a joubert-boltshauser syndrome pure joubert syndrome Joubert syndrome inflammation of myoseptum juvenile dm myoseptum inflammation myoseptumitis Childhood type dermatomyositis efhc1-related juvenile myoclonic epilepsy ejm epilepsy, myoclonic juvenile jme jme - juvenile myoclonic epilepsy juvenile myoclonus epilepsy myoclonic epilepsy, juvenile myoclonic epilepsy, juvenile, 1 Juvenile myoclonic epilepsy kabuki make up syndrome Kabuki syndrome kaposi's sarcoma (clinical) kaposi's sarcoma (disease) kaposi's sarcoma of conjunctiva kaposi's sarcoma of cornea kaposi's sarcoma of lung kaposi's sarcoma of palate kaposi's sarcoma of soft tissue kaposi's sarcoma of soft tissues ks ks - kaposi's sarcoma Kaposi sarcoma acute febrile mcls acute febrile mucocutaneous lymph node syndrome [mcls] infantile polyarteritis nodosa kawasaki's disease kawasaki's syndrome mlns Acute febrile mucocutaneous lymph node syndrome chronic progressive external ophthalmoplegia with myopathy, somatic kearns sayre syndrome kearns-sayre mitochondrial cytopathy kss - kearns-sayre syndrome mitochondrial ocular myopathy Kearns-sayre syndrome kennedy's disease smax1 spinal and bulbar muscular atrophy of kennedy, x-linked recessive spinal and bulbar muscular atrophy, x-linked type 1 spinal bulbar muscular atrophy spinobulbar muscular atrophy x-linked bsma x-linked bulbo-spinal atrophy x-linked bulbospinal amyotrophy x-linked bulbospinal muscular atrophy x-linked spinal and bulbar muscular atrophy Kennedy disease mlh1-related muir-torre syndrome msh2-related muir-torre syndrome torre-muir syndrome torré-muir syndrome Muir-Torré syndrome keratosis follicularis spinulosa decalvans cum ophiasi keratosis pilaris decalvans Keratosis follicularis spinulosa decalvans Angiostrongyliasis kernicterus of newborn nuclear jaundice Bilirubin encephalopathy histiocytic necrotizing lymphadenopathy kikuchi disease Kikuchi-Fujimoto disease eosinophilic lymphogranuloma Kimura disease KLüver-Bucy syndrome Klver-Bucy syndrome Kluver-Bucy syndrome kniest chondrodystrophy kniest syndrome swiss cheese cartilage dysplasia Kniest dysplasia aseptic necrosis of the tarsal bone avascular necrosis of the tarsal bone juvenile osteochondrosis of foot juvenile osteochondrosis of the foot kohler disease kohler's disease osteochondrosis of the tarsal bone Osteochondritis of tarsal/metatarsal bone beta galactocerebrosidase deficiency diffuse globoid body sclerosis diffuse globoid cell cerebral sclerosis galactocerebrosidase deficiency galactocerebroside beta-galactosidase deficiency galactosylceramidase deficiency galc deficiency galc enzyme deficiency gcl - globoid cell leucodystrophy globoid cell leucodystrophy globoid cell leukoencephalopathy krabbe leucodystrophy krabbe's disease krabbe's leukodystrophy leukodystrophy, globoid cell leukodystrophy, krabbe's Krabbe disease lacrimo-auriculo-dento-digital syndrome lacrimoauriculodento-digital syndrome lacrimoauriculodentodigital syndrome lacrimoauriculoradiodental syndrome ladd syndrome lard syndrome levy hollister syndrome Levy-Hollister syndrome aniridia and absent patella syndrome Aniridia-absent patella syndrome eaton lambert syndrome lambert eaton syndrome lambert-eaton myasthenic syndrome lambert-eaton syndrome lems lems - lambert-eaton myasthenic syndrome myasthenic syndrome myasthenic syndrome of lambert-eaton myasthenic-myopathic syndrome of lambert-eaton Eaton-Lambert syndrome acquired aphasia with epilepsy aphasia co-occurrent with epilepsy epilepsy, focal, with speech disorder and with or without impaired intellectual development lks Landau-Kleffner syndrome differentiated progressive histiocytosis histiocytosis x langerhan's cell histiocytosis langerhans cell disease langerhans cell histiocytosis, nos langerhans cell histiocytosis, not otherwise specified langerhans' cell histiocytosis lch - langerhan's cell histiocytosis letterer-siwe disease involving intra-abdominal lymph nodes letterer-siwe disease involving intrapelvic lymph nodes letterer-siwe disease involving intrathoracic lymph nodes letterer-siwe disease involving lymph nodes of axilla and upper limb letterer-siwe disease involving lymph nodes of head, face and neck letterer-siwe disease involving lymph nodes of head, face, and neck letterer-siwe disease involving lymph nodes of inguinal region and lower limb letterer-siwe disease involving lymph nodes of multiple sites letterer-siwe disease involving spleen letterer-siwe disease of intra-abdominal lymph nodes letterer-siwe disease of intrapelvic lymph nodes letterer-siwe disease of intrathoracic lymph nodes letterer-siwe disease of lymph nodes of axilla and upper limb letterer-siwe disease of lymph nodes of axilla and/or upper limb letterer-siwe disease of lymph nodes of head, face and neck letterer-siwe disease of lymph nodes of head, face and/or neck letterer-siwe disease of lymph nodes of inguinal region amd/or lower limb letterer-siwe disease of lymph nodes of inguinal region and lower limb letterer-siwe disease of lymph nodes of inguinal region and/or lower limb letterer-siwe disease of lymph nodes of multiple sites letterer-siwe disease of spleen Langerhans cell histiocytosis complete growth hormone insensitivity gh receptor deficiency growth hormone binding protein deficiency or dysfunction growth hormone insensitivity growth hormone receptor deficiency growth hormone receptor deficiency or dysfunction laron-type dwarfism laron-type pituitary dwarfism primary gh insensitivity primary gh resistance primary growth hormone insensitivity primary growth hormone resistance short stature due to growth hormone resistance Laron-type isolated somatotropin defect bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers and characteristic facies dominant larsen syndrome Larsen syndrome laryngeal papilloma laryngeal papillomas Laryngeal papillomatosis softening of voice box tissue Congenital laryngomalacia bbs biedl-bardet syndrome lmbb - laurence-moon-bardet-biedl syndrome Bardet-Biedl syndrome deficiency of long-chain 3-hydroxyacyl-coenzyme a dehydrogenase fatty liver, acute, of pregnancy hellp syndrome, maternal, of pregnancy lchadd lchadd - long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency long chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency Long chain 3-hydroxyacyl-coa dehydrogenase deficiency leber hereditary optic neuropathy leber optic atrophy features leber optic degeneration leber's disease leber's hereditary optic neuropathy leber's optic atrophy lhon lhon - leber hereditary optic neuropathy lhon - leber's hereditary optic neuropathy optic atrophy, hereditary, leber Leber optic atrophy dupuytren disease of foot dupuytren's contracture of foot lederhose disease plantar part of pes superficial fibromatosis superficial fibromatosis of plantar part of pes Plantar fibromatosis aseptic necrosis of capital femoral epiphysis aseptic necrosis of the capital femoral epiphysis avascular necrosis of capital femoral epiphysis avascular necrosis of the capital femoral epiphysis calve - perthes' disease coxa plana juvenile osteochond-hip/pelvis juvenile osteochondrosis of hip and pelvis juvenile osteochondrosis of hip and/or pelvis legg calvé perthes disease legg-calve-perthes symptom legg-calve-perthes syndrome legg-calvé-perthes disease legg-perthes disease morbus legg-calve-perthes osteochondritis of the capital femoral epiphysis osteochondrosis of legg-calve-perthes osteochondrosis of the capital femoral epiphysis osteochondrosis of the femoral head osteonecrosis of capital femoral epiphysis osteonecrosis of the femoral head perthe's disease perthes disease of hip perthes-like femoral head changes pseudocoxalgia Legg-calve-perthes disease infantile necrotizing encephalomyelopathy infantile subacute necrotizing encephalopathy juvenile subacute necrotizing encephalomyelopathy leigh disease leigh syndrome spectrum leigh syndrome, nuclear leigh's disease leigh's syndrome ls lss necrotizing encephalopathy infantile subacute of leigh nuls Leigh syndrome generalized seborrheic dermatitis of infants infantile seborrheic dermatitis leiner disease leiner's disease Erythroderma desquamativum Leiomyosarcomas leiomyosarcoma (excluding uterine leiomyosarcoma) leiomyosarcoma - not uterine leiomyosarcoma, malignant Leiomyosarcoma leishmaniosis Leishmaniasis human necrobacillosis lemierre postanginal sepsis lemierre syndrome postanginal sepsis postanginal sepsis secondary to orophyngeal infection septic phlebitis of the internal jugular vein Necrobacillosis donohue's syndrome Leprechaunism syndrome hansen disease infection due to mycobacterium leprae mycobacterium leprae caused disease or disorder mycobacterium leprae disease or disorder mycobacterium leprae infection mycobacterium leprae infectious disease Leprosy aniridia, ptosis, intellectual disability, familial obesity syndrome Aniridia-ptosis-intellectual disability-familial obesity syndrome Aleukemic leukemia cutis itgb2 leukocyte adhesion deficiency lad - leukocyte adhesion deficiency type 1 lad-i leukocyte adhesion deficiency - type 1 leukocyte adhesion deficiency caused by mutation in itgb2 leukocyte adhesion deficiency type i leukocyte adhesion molecule deficiency - type 1 lfa-1 deficiency lymphocyte function-associated antigen 1 immunodeficiency mo-1 deficiency Leukocyte adhesion deficiency 1 degeneration of white matter of brain hld hypomyelinating leukodystrophy Leukodystrophy Hantavirus pulmonary syndrome Sommer-Rathbun-Battles syndrome Aniridia-renal agenesis-psychomotor retardation syndrome dysplastic gangliocytoma of cerebellum (lhermitte-duclos) ldd lhermitte-duclos syndrome Lhermitte-Duclos disease lfs li fraumeni syndrome li-fraumeni familiar cancer susceptibility syndrome li-fraumeni syndrome caused by mutation in tp53 sarcoma, breast, leukaemia and adrenal gland syndrome sarcoma, breast, leukemia and adrenal gland syndrome sbla syndrome tp53 li-fraumeni syndrome Li-fraumeni syndrome lcdd Light chain deposition disease erb's muscular dystrophy leyden-mbius muscular dystrophy leyden-mobius muscular dystrophy lgmd limb girdle muscular dystrophy muscular dystrophies, limb-girdle muscular dystrophy with predominantly proximal limb girdle distribution Limb-girdle muscular dystrophy fibroliposarcoma lip sarcoma liposarcoma, malignant malignant lipomatous tumor sarcoma of lip Liposarcoma dcx-related lissencephaly lissencephaly, x-linked lissencephaly, x-linked, type 1 subcortical laminal heterotopia, x-linked x-linked lissencephaly type 1 Lissencephaly type 1 due to doublecortin gene mutation circling disease infection by listeria monocytogenes infection caused by listeria listerellosis listeria infection listeria monocytogenes caused disease or disorder listeria monocytogenes disease or disorder listeria monocytogenes infectious disease Listeriosis cerebromedullospinal disconnection locked in syndrome Locked-in syndrome anisakis simplex infection infection by anisakis larva infection caused by anisakis larva Anisakiasis lymph node neoplasm (disease) lymph node tumor lymph node tumour neoplasm of lymph node tumor of lymph node tumour of lymph node Lymph node neoplasm benign lymphocytic infiltration of jessner jessner's lymphocytic infiltrate jessner's lymphocytic infiltration jessner's lymphocytic infiltration of skin jessner-kanof lymphocytic infiltration of the skin jessners lymphocytic infiltrate lymphocytic infiltration of jessner-kanof Jessner lymphocytic infiltration of the skin Vasculitis, lymphocytic, nodular lg - lymphomatoid granulomatosis lyg Lymphomatoid granulomatosis Lymphomatoid papulosis diffuse lymphoma Lymphosarcoma m-cm (macrocephaly-capillary malformation) macrocephaly-capillary malformation syndrome macrocephaly-capillary malformation syndrome (m-cm, mcap) macrocephaly-cutis marmorata telangiectatica congenita syndrome mcap mcap - megalencephaly capillary malformation mcm mcmtc megalencephaly capillary malformation megalencephaly, capillary malformation, polymicrogyria syndrome megalencephaly-capillary malformation megalencephaly-capillary malformation (mcap) syndrome megalencephaly-capillary malformation syndrome megalencephaly-capillary malformation syndrome (mcap syndrome) megalencephaly-capillary malformation-polymicrogyria syndrome, somatic megalencephaly-cutis marmorata telangiectatica congenita syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome foot macrodactyly macrodactyly of foot macrodactyly of toes Macrodactyly of toe corneal dystrophy groenouw type ii fehr corneal dystrophy macular corneal dystrophy type i macular dystrophy, corneal, 1 mcd Macular corneal dystrophy scjd sporadic cjd sporadic creutzfeldt-jakob disease sporadic jakob-creutzfeldt disease Creutzfeldt-Jakob disease, sporadic cephalothoracic lipodystrophy familial benign cervical lipomatosis launois bensaude lipomatosis launois-bensaude lipomatosis launois-bensaude's lipomatosis lipodystrophy, cephalothoracic lipomatosis, familial benign cervical lms - multiple symmetrical lipomatosis madelung neck madelung's neck Multiple symmetric lipomatosis maffucci type enchondromatosis maffucci's syndrome Maffucci syndrome MDD MdDS disembarkment syndrome sickness of disembarkment Mal de Debarquement ankyloblepharon filiforme adnatum ankyloblepharon filiforme adnatum with cleft palate syndrome Ankyloblepharon filiforme adnatum-cleft palate syndrome Malakoplakia disease caused by plasmodiidae malarial fever paludism Malaria adult malignant fibrous histiocytoma adult unclassified pleomorphic sarcoma adult undifferentiated pleomorphic sarcoma fibrous histiocytoma, malignant fibrous histiocytoma, malignant (morphologic abnormality) fibroxanthoma, malignant fibroxanthosarcoma fibroxanthosarcoma (morphologic abnormality) histiocytoma, fibrous, malignant malignant fibrous cytoma malignant fibrous histiocytoma of soft tissue and bone malignant fibrous histiocytoma of the soft tissue and bone malignant fibroxanthoma mfh storiform-pleomorphic fibrous histiocytoma storiform-pleomorphic mfh undifferentiated high grade pleomorphic sarcoma ups Malignant fibrous histiocytoma anaesthesia related hyperthermia anesthesia related hyperthermia anesthesic-triggered malignant hyperthermia hyperthermia of anaesthesia hyperthermia of anesthesia malignant hyperpyrexia malignant hyperpyrexia caused by anesthesia malignant hyperpyrexia caused by anesthetic malignant hyperpyrexia due to anaesthesia malignant hyperpyrexia due to anesthesia malignant hyperthermia malignant hyperthermia caused by anesthesia malignant hyperthermia caused by anesthetic malignant hyperthermia syndrome malignant hyperthermia with anaesthesia malignant hyperthermia with anesthesia Malignant hyperthermia of anesthesia MMMT carcinosarcoma, malignant malignant mixed Mullerian tumor malignant mixed Mullerian tumour malignant mixed mesodermal (mullerian) tumor malignant mixed mesodermal (mullerian) tumour mesodermal mixed tumor mesodermal mixed tumor (morphologic abnormality) mesodermal mixed tumour mesodermal mixed tumour (morphologic abnormality) mixed mesodermal (mullerian) tumor mixed mesodermal (mullerian) tumour mullerian mixed tumor mullerian mixed tumor (morphologic abnormality) mullerian mixed tumour mullerian mixed tumour (morphologic abnormality) Carcinosarcoma alpha-d-mannosidosis alpha-mannosidase deficiency deficiency of alpha-mannosidase mannosidosis, alpha-, types i and ii Alpha-mannosidosis lcm mantle zone lymphoma mcl Mantle cell lymphoma ankyloblepharon filiforme adnatum with imperforate anus syndrome aughton hufnagle syndrome aughton-hufnagle syndrome Ankyloblepharon filiforme-imperforate anus syndrome marchiafava bignami disease marchiafava disease Marchiafava-Bignami disease abnormal eyelid innervation syndrome jaw winking jaw-blinking jaw-winking mandibulo-palpebral synkinesis-ptosis syndrome marcus gunn jaw winking synkinesis marcus gunn jaw-winking syndrome marcus gunn phenomenon marcus gunn phenonemon marcus gunn syndrome marcus-gunn jaw winking marcus-gunn phenomenon marcus-gunn syndrome maxillopalpebral synkinesis pterygoid-levator synkinesis trigemino-oculomotor synkinesis Jaw-winking syndrome Marden Walker Syndrome Marden-walker syndrome marshall's syndrome Marshall syndrome accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome Marshall-smith syndrome hereditary spastic paraplegia 1 intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome masa (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome masa syndrome (mental retardation, adducted thumbs, shuffling gait, and aphasia) masa syndrome, x-linked recessive mental retardation, adducted thumbs, shuffling gait, aphasia syndrome x-linked complicated hereditary spastic paraplegia type 1 x-linked corpus callosum agenesis x-linked spastic paraplegia 1 Masa syndrome mast cell hyperplasia Mastocytosis binder type maxillonasal dysplasia maxillonasal dysostosis maxillonasal dysplasia syndrome Binder syndrome albright's disease albright's syndrome gonadotropin-independent female-limited sexual precocity mas mccune albright syndrome mccune-albright syndrome, somatic, mosaic Mccune-albright syndrome autosomal recessive metaphyseal chondrodysplasia cartilage hair syndrome cartilage-hair hypoplasia syndrome mckusick type metaphyseal chondrodysplasia Cartilage-hair hypoplasia Acromicric dysplasia hemangioma-thrombocytopenia syndrome kasabach merritt phenomenon kasabach merritt syndrome kasabach-merritt phenomenon Kasabach-merritt syndrome adtkd-muc1 adtkd2 autosomal dominant medullary cystic kidney disease without hyperuricemia autosomal dominant tubulointerstitial kidney disease due to mutations in muc1 mckd1 medullary cystic kidney disease 1 medullary cystic kidney disease type 1 medullary cystic kidney disease, autosomal dominant muc1-related autosomal dominant medullary cystic kidney disease muc1-related medullary cystic kidney disease muci-related adtkd mucin 1 related autosomal dominant tubulointerstitial kidney disease Tubulointerstitial kidney disease, autosomal dominant, 2 c cell neuroendocrine neoplasm carcinoma of parafollicular cell carcinoma, c-cell, malignant mtc mtc - medullary thyroid carcinoma thyroid gland medullary cancer ultimobranchial thyroid tumor ultimobranchial thyroid tumour Medullary thyroid carcinoma brain medulloblastoma cerebellar medulloblastoma cerebellum embryonal neoplasm mdb - medulloblastoma medulloblastoma predisposition syndrome medulloblastoma, autosomal recessive, autosomal dominant, somatic mutation medulloblastoma, desmoplastic, autosomal recessive, autosomal dominant, somatic mutation medulloblastoma, malignant medulloblastoma, somatic medulloblastoma, sufu-related medulloblastomas Medulloblastoma enterocyte intrinsic factor receptor, defect of familial megaloblastic anaemia familial megaloblastic anemia imerslund disease imerslund's syndrome imerslund-grasbeck anemia imerslund-grasbeck disease imerslund-gräsbeck syndrome imerslund-najman-grasbeck syndrome juvenile megaloblastic anaemia juvenile megaloblastic anemia megaloblastic anemia due to inborn errors of metabolism pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria selective cobalamin malabsorption with proteinuria selective malabsorption of cyanocobalamin vitamin b12 deficiency anemia due to selective malabsorption of cyanocobalamin Imerslund-Grasbeck syndrome Meige dystonia meige syndrome Blepharospasm-oromandibular dystonia syndrome juvenile myopathy, encephalopathy, lactic acidosis, stroke melas - mitochondrial encephalopathy, lactic acidosis and stroke-like episodes mitochondrial encephalomyopathy, lactic acidosis and stroke mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Melas syndrome ankylosis (disease) of calcareous tooth ankylosis of teeth calcareous tooth ankylosis (disease) tooth ankylosis Ankylosis of tooth cheilitis granulomatosa of mescher-melkersson-rosenthal cheilitis granulomatosa of miescher-melkersson-rosenthal macrocheilia, facial palsy and edema syndrome melkersson's syndrome Melkersson-rosenthal syndrome melnick needles syndrome melnick-needles osteodysplasty melnick-needles syndrome, x-linked dominant osteodysplasty Melnick-needles syndrome meningioma (disease) meningioma, somatic noncancerous growth of membranes covering brain Meningioma cancer, mesothelioma malignant mesothelial tumour malignant mesothelioma (disease) malignant tumour of mesothelium malignant tumour of the mesothelium mesothelioma (malignant, clinical disorder) mesothelioma, somatic pleural mesothelioma Mesothelioma, malignant japanese type spondylometaphyseal dysplasia mcds metaphyseal chondrodysplasia schmid type metaphyseal dysplasia, schmid type schmid metaphyseal chondrodysplasia schmid type metaphyseal dysplasia spondylometaphyseal dysplasia, japanese type Metaphyseal chondrodysplasia, Schmid type elevated circulating methylmalonic acid concentration isolated methylmalonic acidemia mma mma - methylmalonic aciduria Methylmalonic acidemia asymptomatic monoclonal gammopathy benign monoclonal gammopathy mgus mgus - monoclonal gammopathy of uncertain significance mgus - monoclonal gammopathy of undetermined significance monoclonal gammopathy of uncertain significance monoclonal gammopathy of undetermined significance (morphologic abnormality) monoclonal gammopathy of unknown significance monoclonal gammopathy, benign Monoclonal gammopathy of undetermined significance bessel-hagen disease diaphyseal aclasia exostoses, multiple hereditary multiple osteochondromas multiple cartilaginous exostoses multiple exostoses type i multiple exostosis syndromes multiple ostechondromas multiple osteochondromas multiple osteochondromatosis osteochondromatosis osteochondromatosis syndrome osteochondromatosis syndrome (disorder) [ambiguous] Multiple congenital exostosis congenital microvillous atrophy congenital microvillus atrophy davidson disease diarrhea 2 with microvillus atrophy diarrhea 2 with microvillus atrophy, with or without cholestasis diarrhea with microvillus atrophy 2 diarrhoea 2 with microvillus atrophy microvillous inclusion disease mvd mvid myo5b secretory diarrhea myo5b secretory diarrhoea secretory diarrhea caused by mutation in myo5b secretory diarrhoea caused by mutation in myo5b Microvillus inclusion disease extranodal natural killer/t-cell lymphoma, nasal type extranodal nk/t lymphoma-nasal lethal midline granuloma nasal t/natural killer-cell lymphoma natural killer cell and t-cell malignant lymphoma nasal type nk/t-cell lymphoma nktcl reticulosis, malignant t/nk-cell lymphoma Extranodal nasal nk/t cell lymphoma chronic dacryoadenitis and sialadenitis mikulicz syndrome mikulicz' disease mikulicz's disease mikulicz's syndrome non-sjogren syndrome salivary gland hyperplasia IgG4-related dacryoadenitis and sialadenitis Annular pancreas connective tissue disease overlap syndrome mctd mctd - mixed connective tissue disease mixed collagen vascular disease sharp syndrome sharp's syndrome Mixed connective tissue disease multiple mononeuropathy Mononeuritis multiplex addison's keloid circumscribed scleroderma localised fibrosing scleroderma localised morphea localised morphoea localised scleroderma (disorder) [ambiguous] localized dermatosclerosis localized fibrosing scleroderma localized morphea localized morphoea localized scleroderma (disorder) [ambiguous] morphea scleroderma scleroderma, circumscribed or localised scleroderma, circumscribed or localized Localized scleroderma Chromosome 16 trisomy idiopathic moyamoya disease moyamoya syndrome progressive intracranial arterial occlusion Moyamoya disease mps - mucopolysaccharidosis mucopolysaccharidoses Mucopolysaccharidosis heparan sulfamidase deficiency heparan-n-sulfatase deficiency mps iii a mps iii-a - mucopolysaccharidosis iii-a mps3a mpsiiia mpsiiia - mucopolysaccharidosis type iiia mucopolysaccharidosis iii-a mucopolysaccharidosis type iiia (sanfilippo a) mucopolysaccharidosis, mps-iii-a mucopolysaccharidosis, type iiia, attenuated n-sulfoglucosamine sulfohydrolase deficiency sanfilippo syndrome a sanfilippo syndrome type a sanfilippo syndrome, type a Mucopolysaccharidosis type 3a alpha-n-acetylglucosaminidase deficiency mps iii b mps iii-b - mucopolysaccharidosis iii-b mps3b mpsiiib mpsiiib - mucopolysaccharidosis type iiib mucopolysaccharidosis iii-b mucopolysaccharidosis type iiib (sanfilippo b) mucopolysaccharidosis, mps-iii-b n-acetyl-alpha-glucosaminidase deficiency sanfilippo syndrome b sanfilippo syndrome type b sanfilippo syndrome, type b Mucopolysaccharidosis type 3b acetyl-coa alpha-glucosaminide acetyltransferase deficiency acetyl-coa: heparan-alpha-d-glucosaminide n-acetyltransferase deficiency heparan-alpha-glucosaminide acetyltransferase deficiency heparan-alpha-glucosaminide n-acetyltransferase deficiency hgsnat deficiency mps iii c mps iii-c - mucopolysaccharidosis iii-c mps3c mpsiiic mpsiiic - mucopolysaccharidosis type iiic mucopolysaccharidosis iii-c mucopolysaccharidosis type iiic (sanfilippo c) mucopolysaccharidosis, mps-iii-c n-acetyl transferase deficiency sanfilippo syndrome type c sanfilippo syndrome, type c Mucopolysaccharidosis type 3c deficiency of n-acetylglucosamine-6-sulfatase glucosamine n-acetyl-6-sulfatase deficiency gns deficiency mps iii d mps iii-d - mucopolysaccharidosis iii-d mps3d mpsiiid mpsiiid - mucopolysaccharidosis type iiid mucopolysaccharidosis iii-d mucopolysaccharidosis, mps-iii-d sanfilippo syndrome d sanfilippo syndrome type d sanfilippo syndrome, type d Mucopolysaccharidosis type 3d msa msa - multiple system atrophy multisystem atrophy Multiple system atrophy arsb - arylsulfatase b deficiency arylsulfatase b deficiency asb deficiency deficiency of n-acetylgalactosamine-4-sulfatase maroteaux - lamy syndrome maroteaux-lamy disease mps vi - maroteaux-lamy syndrome mps vi - mucopolysaccharidosis vi mps6 mpsvi mucopolysaccharidosis chondroitin sulfate b mucopolysaccharidosis type vi (maroteaux-lamy) mucopolysaccharidosis, mps-vi n-acetylgalactosamine 4-sulfatase deficiency polydystrophic dwarfism Mucopolysaccharidosis type 6 deficiency of beta-glucuronidase mps vii - sly syndrome mps7 mpsvii mucopolysaccharidosis vii mucopolysaccharidosis, mps-vii sly disease Mucopolysaccharidosis type 7 fibroblast growth factor receptor 3 (fgfr3) related craniosynostosis fibroblast growth factor receptor 3-related craniosynostosis Muenke syndrome human anaplasmosis due to Anaplasma phagocytophilum human granulocytic anaplasmosis Human granulocytic ehrlichiosis absent nails and dystrophic nails anonychia/hyponychia and onychodystrophy Anonychia-onychodystrophy syndrome aplasia of müllerian ducts aplasia of the mullerian ducts aplasia of the müllerian ducts mullerian duct failure müllerian duct failure Mullerian aplasia giant cell histiocytomatosis lipoid dermatoarthritis nicolau-balus syndrome Multicentric reticulohistiocytosis familial myeloma kahler disease kahler's disease medullary plasmacytoma mm multiple myeloma (clinical) multiple myeloma, resistance to, somatic mutation multiple myeloma, somatic multiple myeloma, susceptibility to, somatic mutation myeloid neoplasm of plasma cell myeloma, multiple myeloma, plasma cell, malignant myelomatosis plasma cell myeloid neoplasm plasmacytic myeloma plasmocytoma Multiple myeloma Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly autosomal recessive non-lethal multiple pterygium syndrome escobar variant multiple pterygium syndrome evmps multiple pterygium syndrome, autosomal recessive Autosomal recessive multiple pterygium syndrome acquired myasthenia autoimmune myasthenia gravis congenital mg erb-goldflam disease erb-goldflam syndrome mg - myasthenia gravis myasthenia gravis congenital myasthenia gravis pseudoparalytica Myasthenia gravis anophthalmia with pulmonary hypoplasia syndrome anophthalmia-pulmonary hypoplasia syndrome mcops9 microphthalmia syndromic type 9 microphthalmia, syndromic type 9 pdac syndrome pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome syndromic microphthalmia type 9 Matthew-wood syndrome hematopoeitic - myelodysplastic syndrome (mds) mds mds - myelodysplastic syndrome mds, unclassifiable mds-u myelodysplastic syndrome (clinical) myelodysplastic syndrome, somatic myelodysplastic syndrome, susceptibility, gata2-related myelodysplastic syndrome, unclassifiable myelodysplastic syndromes oligoblastic leukaemia preleukemia smouldering leukaemia Myelodysplastic syndrome inflammation of heart muscle inflammation of myocardium myocardial inflammation myocardial inflammation (finding) myocardium inflammation Myocarditis dystonia with myoclonus dyt-sgce myoclonic dystonia Myoclonus-dystonia syndrome epilepsy, progressive myoclonic myoclonic epilepsies, progressive myoclonus epilepsy pme progressive myoclonic epilepsy progressive myoclonic epilepsy (disorder) [ambiguous] Progressive myoclonus epilepsy fukuhara syndrome merrf merrf - myoclonic epilepsy with ragged red fibers myoclonic epilepsy - ragged red fibers myoclonic epilepsy - ragged red fibres myoclonus epilepsy and ragged red fibers myoclonus epilepsy and ragged red fibres myoclonus epilepsy associated with ragged-red fibers myoclonus epilepsy associated with ragged-red fibres myoclonus with epilepsy and with ragged red fibers myoclonus with epilepsy and with ragged red fibers (merrf syndrome) myoclonus with epilepsy and with ragged red fibres myoclonus with epilepsy and with ragged red fibres (merrf syndrome) myoclonus with epilepsy with ragged red fibers Merrf syndrome imt inflammatory fibrosarcoma inflammatory pseudotumor Inflammatory myofibroblastic tumor Hyaline body myopathy amino acid acetyltransferase deficiency congenital aga deficiency hyperammonemia, type iii n-acetylglutamate transferase deficiency nags - n-acetylglutamate synthase deficiency nags-gene related hyperammonemia type iii Hyperammonemia due to n-acetylglutamate synthase deficiency fong disease hereditary onychoostedysplasia iliac horn syndrome nail patella syndrome nps 1 nps1 onychoosteodysplasia osteo-onychodysplasia turner kieser syndrome turner-kieser syndrome turner-kiser syndrome Nail-patella syndrome nance-horan syndrome, X-linked dominant Nance-horan syndrome nasopharyngeal carcinoma, somatic nasopharynx carcinoma npc squamous cell carcinoma of the nasopharynx Nasopharyngeal carcinoma basal cell carcinoma syndrome bcns - basal cell nevus syndrome gorlin's syndrome nbccs nbccs - nevoid basal cell carcinoma syndrome nevoid basal cell cancer syndrome Nevoid basal cell carcinoma syndrome anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome anophthalmia megalocornea cardiopathy skeletal anomalies cassia stocco dos santos syndrome Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome dermal ridges-off-the-end nelson's syndrome roes Nelson syndrome mild nemaline myopathy Childhood-onset nemaline myopathy Neonatal hemochromatosis arginine vasopressin resistance avp-r - arginine vasopressin resistance ndi - nephrogenic diabetes insipidus vasopressin resistance Nephrogenic diabetes insipidus axial osteosclerosis with bamboo hair bamboo hair syndrome comèl-netherton syndrome ichthyosis, netherton syndrome netherton's syndrome ns Netherton syndrome deficiency of neuraminidase deficiency of sialidase dysmorphic sialidosis dysmorphic sialidosis with renal involvement infantile dysmorphic sialidosis ml i mucolipidosis i nephrosialidosis neu1 sialidosis sialidosis caused by mutation in neu1 sialidosis type ii sialidosis, type 2 sialidosis, type i Sialidosis type 2 cancer of early nerve cells nb - neuroblastoma neural crest tumor, malignant neuroblastoma, malignant Neuroblastoma ncm neurocutaneous melanosis, somatic Neurocutaneous melanocytosis Fryns microphthalmia syndrome microphthalmia with facial clefting Anophthalmia plus syndrome ad15 alzheimer disease 15 alzheimer disease, type 15 alzheimer disease-15 alzheimer's disease 15 alzheimer's disease type 15 Alzheimer disease without neurofibrillary tangles benign neurofibroma multiple neurofibromas neurofibroma, benign neurofibromata Neurofibroma banf - bilateral acoustic neurofibromatosis familial acoustic neuroma familial vestibular schwannoma full neurofibromatosis type 2 full nf2 full nf2-related schwannomatosis nf2 nf2-related schwannomatosis nonmosaic neurofibromatosis type 2 nonmosaic nf2-related schwannomatosis schwannomatosis, vestibular swnv vestibular schwannomatosis Neurofibromatosis, type 2 malignant neuroleptic syndrome nms nms - neuroleptic malignant syndrome Neuroleptic malignant syndrome Human Monocytic Ehrlichiosis (HME) human ehrlichiosis due to Ehrlichia chaffeensis Human monocytic ehrlichiosis congenital thymic dysplasia syndrome nezelof syndrome nezelof's syndrome T-lymphocyte deficiency classical niemann-pick disease infantile neurovisceral acid sphingomyelinase deficiency infantile neurovisceral asmd niemann-pick disease neuropathic type niemann-pick disease type a niemann-pick disease, acute neuropathic form niemann-pick disease, acute neurovisceral form npd-a Niemann-Pick disease, type A niemann pick disease type c niemann-pick disease type c supraoptic vertical ophthalmoplegia Niemann-Pick disease, type C nocardia caused disease or disorder nocardia disease or disorder nocardia infections nocardia infectious disease Nocardiosis amt-related glycine encephalopathy disorder of glycine cleavage enzyme complex gldc-related glycine encephalopathy nka nkh - non-ketotic hyperglycinemia non ketotic hyperglycinemia non-ketotic hyperglycinemia Glycine encephalopathy anophthalmia-syndactyly syndrome anophthalmia-waardenburg syndrome anophthalmos-limb anomalies syndrome microphthalmia and limb anomalies mla oas ophthalmo-acromelic syndrome ophthalmoacromelic syndrome syndactyly-anophthalmos syndrome waardenburg anophthalmia syndrome Microphthalmia with limb anomalies atrophia bulborum hereditaria episkopi blindness norrie disease, x-linked recessive norrie's disease norrie-warburg disease oligophrenia microphthalmus Norrie disease choreoathetosis self-mutilation syndrome complete hgprt deficiency complete hypoxanthine-guanine phosphoribosyltransferase deficiency hg-prt deficiency hgprt deficiency hprt - hypoxanthine-guanine phosphoribosyltransferase deficiency hprt complete deficiency hprt deficiency grade iv hypoxanthine guanine phosphoribosyltransferase complete deficiency hypoxanthine guanine phosphoribosyltransferase deficiency, grade iv lesch - nyhan syndrome lesch-nyhan disease lesch-nyhan syndrome, x-linked recessive total hgprt deficiency x-linked hyperuricemia x-linked hyperuricemia (disorder) [ambiguous] Lesch-nyhan syndrome eye melanoma (disease) eyeball of camera-type eye melanoma eyeball of camera-type eye melanoma (disease) malignant melanoma of eye melanoma (disease) of eyeball of camera-type eye mm (malignant melanoma) of eye Ocular melanoma curtius' syndrome i ectodermal dysplasia-ocular malformation syndrome meyer-schwickerath syndrome oculo-dento-digital dysplasia oculodentoosseous dysplasia odd syndrome oddd syndrome Oculodentodigital dysplasia muscular dystrophy, oculopharyngeal oculopharyngeal dystrophy opmd Oculopharyngeal muscular dystrophy primary chronic pseudo-obstruction of colon pseudo-obstruction of colon Colonic pseudo-obstruction congenital enchondromatosis enchondromatosis with haemangiomata enchondromatosis, multiple kast's syndrome multiple enchondromata ollier type enchondromatosis osteochondromatosis Enchondromatosis Onchocerca volvulus infection infection by Onchocerca volvulus volvulosis Onchocerciasis OSMF oral cavity submucous fibrosis oral submucosal fibrosis oral submucosal fibrosis, including of tongue Oral submucous fibrosis carbamoyl phosphate synthetase deficiency carbamoyl-phosphate synthase deficiency disease carbamoyl-phosphate synthase i deficiency carbamoyl-phosphate synthetase deficiency carbamoyl-phosphate synthetase i deficiency carbamoylphosphate synthetase i deficiency congenital hyperammonemia, type i cps i deficiency cps1 deficiency cps1d Carbamoyl phosphate synthetase I deficiency disease osteogenic sarcoma osteosarcoma osteosarcoma, somatic osteosarcoma, somatic mutation primary osteosarcoma of bone Bone osteosarcoma bone infection om - osteomyelitis osteomyelitis (disease) ostm - osteomyelitis pyogenic inflammation of bone Osteomyelitis oto-palatal-digital syndrome oto-palato-digital syndrome Otopalatodigital syndrome cancer of ovary cancer of the ovary malignant neoplasm of ovary malignant neoplasm of the ovary malignant ovarian neoplasm malignant ovarian tumor malignant ovarian tumour malignant ovary neoplasm malignant tumor of ovary malignant tumor of the ovary malignant tumour of ovary malignant tumour of the ovary ovarian cancer, somatic ovarian malignant tumor ovarian malignant tumour ovary cancer Ovarian cancer malignant mixed mesodermal mullerian tumour of ovary malignant mixed mesodermal mullerian tumour of the ovary malignant mixed mesodermal müllerian tumour of ovary malignant mixed mesodermal müllerian tumour of the ovary mmmt of the ovary ovarian malignant mesodermal (mullerian) mixed tumour ovarian malignant mesodermal (müllerian) mixed tumour ovarian malignant mixed epithelial mesenchymal tumor ovarian malignant mixed epithelial mesenchymal tumour ovarian malignant mixed mesodermal (mullerian) tumour ovarian malignant mixed mesodermal (müllerian) tumour ovarian malignant mixed mesodermal mullerian tumour ovarian malignant mixed mesodermal müllerian tumour ovarian malignant mixed mullerian tumour ovarian malignant mixed müllerian tumour ovarian mmmt ovary carcinosarcoma Ovarian carcinosarcoma higm1 higmx-1 hyper igm syndromes hyper-igm immunodeficiency syndrome, type 1 hyper-igm syndrome due to cd40 ligand deficiency hyper-igm syndrome due to cd40l deficiency hyper-igm syndrome, x-linked immunodeficiency, x-linked, with hyper-igm immunodeficiency, x-linked, with hyper-igm, x-linked recessive x-linked hyper-immunoglobulin m syndrome x-linked with hyper-igm immunodeficiency xhigm Hyper-igm syndrome type 1 anti-human leukocyte antigen hyperimmunization highly hla (human leukocyte antigen) sensitized patient Anti-HLA hyperimmunization paget disease of nipple paget's disease of the breast Paget disease of the nipple PHS Pallister Hall syndrome ano-cerebro-digital syndrome hypothalamic hamartoblastoma syndrome hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly Pallister-hall syndrome antiplasmin defiency plasmin inhibitor deficiency Alpha-2-plasmin inhibitor deficiency paediatric autoimmune disorders associated with streptococcus infections paediatric autoimmune neuropsychiatric disorders associated with streptococcus infections pandas - pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection pediatric autoimmune disorders associated with streptococcus infections pediatric autoimmune neuropsychiatric disorder associated with streptococcal infection pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections PANDAS focal lichen myxedematosus localized lichenoid myxedema papular mucinosis Localized lichen myxedematosus brazilian blastomycosis infection by blastomyces brasiliensis infection by paracoccidioides brasiliensis mucocutaneous south american blastomycosis mucocutaneous-lymphangitic paracoccidioidomycosis paracoccidioidal mycosis Paracoccidioidomycosis glomus tumors familial 1 paraganglioma - glomus jugulare paraganglioma caused by mutation in sdhd paragangliomas 1, with or without deafness paragangliomas familial 1 paragangliomas type 1 pgl 1 sdhd paraganglioma sdhd-related hereditary paraganglioma-pheochromocytoma syndrome Paragangliomas 1 eulenburg syndrome eulenburg's disease Paramyotonia congenita of von eulenburg cdc73-related parathyroid carcinoma Parathyroid carcinoma cold agglutinin hemoglobinuria cold donath landsteiner type autoimmune hemolytic anemia cold hemoglobinuria donath-landsteiner hemolytic anaemia donath-landsteiner hemolytic anemia donath-landsteiner syndrome pch pch - paroxysmal cold hemoglobinuria Paroxysmal cold hemoglobinuria acquired paroxysmal nocturnal hemoglobinuria hereditary paroxysmal nocturnal hemoglobinuria inherited paroxysmal nocturnal hemoglobinuria marchiafava-micheli disease marchiafava-micheli syndrome paroxysmal nocturnal haemoglobinuria pnh pnh - paroxysmal nocturnal hemoglobinuria Paroxysmal nocturnal hemoglobinuria atrophy of half of face atrophy of one side of the face facial trophoneurosis hemifacial atrophy parry romberg syndrome progressive facial hemiatrophy romberg syndrome Facial hemiatrophy inflammation of pars plana of ciliary body pars plana of ciliary body inflammation pars plana of ciliary bodyitis posterior cyclitis Pars planitis d>1< trisomy syndrome patau's syndrome t13 trisomy 13 trisomy 13 syndrome trisomy type 13 Complete trisomy 13 syndrome patent ductus arteriosus, susceptibility to PDA1 Pearson marrow-pancreas syndrome Pearson syndrome childhood precursor t-lymphoblastic leukaemia childhood t acute lymphoblastic leukaemia childhood t-all childhood t-cell acute lymphoblastic leukaemia t-cell childhood acute lymphoblastic leukaemia t-cell paediatric acute lymphoblastic leukaemia t-cell paediatric acute lymphocytic leukaemia t-cell paediatric all t-cell pediatric acute lymphocytic leukemia T-cell childhood acute lymphocytic leukemia PSS deciduous skin familial continuous skin peeling syndrome idiopathic deciduous skin keratosis exfoliativa congenita peeling skin disease Peeling skin syndrome Cerebral sclerosis similar to pelizaeus-merzbacher disease AS syndrome anti-Jo1 syndrome Antisynthetase syndrome Pemphigus Brazilian pemphigus foliaceus Pemphigus and fogo selvagem pemphigus foliaceous pf - pemphigus foliaceous Pemphigus foliaceus familial pemphigus vulgaris pv - pemphigus vulgaris Pemphigus vulgaris Cantrell deformity Cantrell syndrome thoraco-abdominal syndrome Pentalogy of cantrell classic polyarteritis nodosa küssmaul-maier disease pan pan - polyarteritis nodosa Polyarteritis nodosa mature t-cell lymphoma ptcl Mature T-cell and NK-cell non-Hodgkin lymphoma heterotopia, periventricular, 1 heterotopia, periventricular, 1, x-linked dominant heterotopia, periventricular, ehlers-danlos variant Heterotopia, periventricular, x-linked dominant anterior segment dysgenesis 5, multiple subtypes peter's anomaly peters anomaly peters anomaly (disease) peters congenital glaucoma Irido-corneo-trabecular dysgenesis colonic hamartomatous polyp gastric peutz-jeghers polyp hamartomatous intestinal polyposis perioral lentiginosis peutz jeghers colon polyp peutz jeghers syndrome peutz-jeghers polyp of small intestine peutz-jeghers polyposis peutz-jeghers small bowel hamartoma pjs pjs - peutz-jeghers syndrome polyps and spots syndrome Peutz-jeghers syndrome congenital aortopulmonary artery fistula congenital aortopulmonary septal defect Congenital aortopulmonary window acrocephalosyndactylia type v acrocephalosyndactyly type 5 acs v acs5 fgfr1-related craniosynostosis pfeiffer-type acrocephalosyndactyly Pfeiffer syndrome liddle's syndrome pseudoaldosteronism pseudoprimary hyperaldosteronism Liddle syndrome folling disease hyperphenylalaninemia, non-pku mild pah (phenylalanine hydroxylase) deficiency pah deficiency pah-gene related phenylketonuria phenylalanine hydroxylase deficiency phenylalaninemia phenylketonurias pku pku - phenylketonuria Phenylketonuria appelt-gerken-lenz syndrome esco2 spectrum disorder hypomelia-hypotrichosis-facial hemangioma syndrome long bone deficiencies associated with cleft lip-palate rbs robert's syndrome roberts syndrome/sc phocomelia roberts tetraphocomelia syndrome tetraphocomelia-cleft palate syndrome Roberts-sc phocomelia syndrome glycogen storage disease caused by mutation in pgk1 glycogenosis due to phosphoglycerate kinase 1 deficiency gsd due to phosphoglycerate kinase 1 deficiency pgk1 glycogen storage disease phosphoglycerate kinase 1 deficiency with levo-dopa-responsive parkinsonism phosphoglycerate kinase 1 deficiency, x-linked recessive Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome bv-FTD Behavioral variant of frontotemporal dementia diffuse giant cell tumour of tendon sheath diffuse giant cell tumour of tenosynovium diffuse giant cell tumour of the tenosynovium diffuse tenosynovial giant cell tumor of uncertain behavior diffuse tenosynovial giant cell tumour pigmented villonodular synovitis tenosynovial giant cell tumor, diffuse tgct tsgct villous tenosynovitis Tenosynovial giant cell tumor, diffuse type Pinta disease ateliotic dwarfism autosomal recessive isolated growth hormone deficiency congenital ighd type ia congenital isolated gh deficiency type ia congenital isolated growth hormone deficiency type ia growth hormone deficiency, isolated, type ia hypopituitary dwarfism with normal sexual characteristics idiopathic pituitary dwarfism ighd ia isolated growth hormone deficiency type ia pituitary dwarfism i primordial dwarfism sexual ateleiotic dwarfism sexual ateliotic dwarfism sexual dwarfism Ateleiotic dwarfism aortic arch obstruction atretic transverse aortic arch iaa - interrupted aortic arch Aortic arch interruption devergie's disease lichen ruber acuminatus pityriasis rubra pilaris--familial type prp prp - pityriasis rubra pilaris Pityriasis rubra pilaris placental site gestational trophoblastic tumour placental site trophoblastic tumor (morphologic abnormality) placental site trophoblastic tumour (morphologic abnormality) placental-site gestational trophoblastic tumour psst Placental site trophoblastic tumor Aortic arch defects osteosclerotic myeloma pep syndrome poems - polyneuropathy organomegaly endocrinopathy monoclonal and skin changes polyneuropathy organomegaly endocrinopathy monoclonal gammopathy and skin changes polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (poems) syndrome polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes syndrome polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome takatsuki syndrome POEMS syndrome poland anomalad poland sequence poland's syndactyly unilateral defect of pectoralis muscle and syndactyly of hand Poland anomaly epidemic acute poliomyelitis pm - poliomyelitis polia Poliomyelitis cutaneous livedo with nodules cutaneous periarteritis nodosa nodular livedo Cutaneous polyarteritis nodosa chondromalacia, systemic chronic polychondritis meyenburg's disease polychondropathia systemic chondromalacia Relapsing polychondritis acquired primary erythrocytosis osler-vaquez disease osler-vaquez syndrome polycythaemia rubra vera polycythemia vera (clinical) polycythemia vera, somatic ppp - primary proliferative polycythemia primary proliferative polycythemia proliferative polycythaemia proliferative polycythemia prv - polycythemia rubra vera pv suspected polycythemia vera vaquez disease vaquez's disease Acquired polycythemia vera neuromyositis pm pm - polymyositis Polymyositis supra-valvular aortic stenosis supravalvar aortic stenosis supravalvular aortic stenosis (disease) svas svas - supravalvar aortic stenosis Supravalvular aortic stenosis Porencephaly eccrine poroma, malignant Eccrine porocarcinoma chp - cutaneous hepatic porphyria cutaneous hepatic porphyria pct pct - porphyria cutanea tarda porphyria cutanea tarda symptomatica porphyria, hepatocutaneous type symptomatic porphyria urocoproporphyria Porphyria cutanea tarda congenital obstructing posterior urethral membranes congenital posterior urethral valves copum puv puv - posterior urethral valve Congenital posterior urethral valve biliary liver cirrhosis cholestatic cirrhosis hanot syndrome hanot's cirrhosis pbc primary bilary cirrhosis (pbc) Primary biliary cholangitis angina inversa angina pectoris, variant coronary artery spasm angina prinzmetal's variant angina Prinzmetal angina hgps hutchinson gilford syndrome hutchinson-gilford progeria progeria syndrome progeroid laminopathies Hutchinson-Gilford syndrome multifocal leukoencephalopathy pml - progressive multifocal leukoencephalopathy pmle - progressive multifocal leukoencephalopathy progressive multifocal leukoencephalitis Progressive multifocal leukoencephalopathy progressive supranuclear ophthalmoplegia psp - progressive supranuclear palsy psp syndrome steele-richardson-olszewski disease Progressive supranuclear palsy deficiency of imidodipeptidase deficiency of prolidase deficiency of proline dipeptidase deficiency of xaa-pro dipeptidase hyperimidodipeptiduria hyperimidodipeptiduria due to proline dipeptidase deficiency iminodipeptiduria Prolidase deficiency macrocephaly mesodermal hamartoma spectrum partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome proteus syndrome, somatic wiedemann's syndrome Proteus syndrome epp epp (erythropoietic protoporphyria porphyria) epp - erythropoietic protoporphyria erythrohepatic protoporphyria magnus syndrome protoporphyria Erythropoietic protoporphyria abdominal muscle deficiency syndrome eagle-barret syndrome obrinsky syndrome obrisnksy syndrome prune belly syndrome of agenesis of abdominal muscles triad syndrome Prune belly syndrome Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4 Aphalangy-syndactyly-microcephaly syndrome apnea, postanesthetic, susceptibility to, due to bche deficiency bche, silent 1 deficiency of benzoylcholinesterase deficiency of butyrylcholine esterase deficiency of butyrylcholinesterase Butyrylcholinesterase deficiency aho-php syndrome ia albright hereditary osteodystrophy albright hereditary osteodystrophy, classical type albright hereditary osteodystrophy-php syndrome ia php ia pseudohypoparathyroidism ia pseudohypoparathyroidism ia (php-ia) pseudohypoparathyroidism type 1a pseudohypoparathyroidism type ia Pseudohypoparathyroidism type I A adenomucinosis pmp pseudomyxoma peritonei (morphologic abnormality) well differentiated peritoneal mucinous adenocarcinoma Pseudomyxoma peritonei APAP Pulmonary Alveolar Proteinosis autoimmune PAP iPAP idiopathic PAP idiopathic pulmonary alveolar proteinosis Autoimmune pulmonary alveolar proteinosis hypertensive pulmonary arterial disease increased blood pressure in blood vessels of lungs primary pulmonary hypertension pulmonary artery hypertension pulmonary hypertensive arterial disease Pulmonary arterial hypertension pic - punctate inner choroidopathy punctate inner choroiditis Punctate inner choroidopathy prca primary red cell aplasia pure red cell anemia pure red cell aplasia, acquired red cell aplasia red cell hypoplasia Pure red-cell aplasia Pyoderma gangrenosum ataxia with lactic acidosis ii ataxia with lactic acidosis type 2 ataxia with lactic acidosis type ii deficiency of pyruvate carboxylase deficiency of pyruvic carboxylase leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency leigh syndrome due to pc deficiency leigh syndrome due to pyruvate carboxylase deficiency pc - pyruvate carboxylase deficiency Pyruvate carboxylase deficiency disease ataxia with lactic acidosis ataxia with lactic acidosis 1 ataxia with lactic acidosis i deficiency of alpha-carboxylase deficiency of alpha-ketoacid carboxylase deficiency of pyruvate decarboxylase deficiency of pyruvate dehydrogenase (cytochrome) deficiency of pyruvic decarboxylase deficiency of pyruvic dehydrogenase pdh pdh - pyruvate dehydrogenase deficiency pdh deficiency pdhc pyruvate decarboxylase deficiency pyruvate dehydrogenase complex deficiency disease Pyruvate dehydrogenase complex deficiency anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient cnsha2 deficiency of phosphoenol transphosphorylase deficiency of phosphoenolpyruvate kinase deficiency of pyruvate kinase hemolytic anaemia due to pyruvate kinase deficiency hemolytic anaemia due to red cell pyruvate kinase deficiency hemolytic anemia due to pyruvate kinase deficiency hemolytic anemia due to red cell pyruvate kinase deficiency pk - pyruvate kinase deficiency pk deficiency pyruvate kinase deficiency of erythrocyte pyruvate kinase deficiency of erythrocytes pyruvate kinase deficiency, amish type Pyruvate kinase deficiency of red cells abattoir fever balkan grippe balkan influenza coxiella burnetii caused disease or disorder coxiella burnetii disease or disorder coxiella burnetii infectious disease coxiellosis infection due to coxiella burnetii nine mile fever quadrilateral fever query fever Q fever hydrophobia lyssa Rabies cherubism-gingival fibromatosis-intellectual disability syndrome Ramon syndrome facial nerve palsy due to herpes zoster infection facial nerve palsy due to vzv facial nerve paralysis due to vzv geniculate herpes zoster infection geniculate neuralgia herpes zoster auricularis herpes zoster cephalicus herpetic geniculate ganglionitis hzo - herpes zoster oticus nervus intermedius neuralgia postherpetic geniculate ganglionitis ramsay hunt syndrome ramsay hunt syndrome - auricular ramsay hunt syndrome 2 ramsey hunt syndrome Geniculate herpes zoster Bronspiegel-Zelnick syndrome autosomal recessive aplasia cutis Aplasia cutis congenita-intestinal lymphangiectasia syndrome autosomal recessive aplasia cutis congenita of limb Recessive aplasia cutis congenita of limbs familial renal glycosuria renal diabetes renal glucosuria, autosomal dominant sglt2 deficiency Familial renal glucosuria renal bone disease renal rickets rod - renal osteodystrophy Renal osteodystrophy accumulation of acid in body due to kidney problem rta - renal tubular acidosis Renal tubular acidosis Gershoni-Baruch-Leibo syndrome aplasia cutis myopia Aplasia cutis-myopia syndrome rb - retinoblastoma retina tumor retina tumour retinoblastoma - morphology retinoblastoma, malignant retinoblastoma, somatic Retinoblastoma fatty liver with encephalopathy reye's encephalopathy Reye syndrome malignant rhabdoid tumor malignant rhabdoid tumour rdt rhabdoid sarcoma Rhabdoid tumor rheumatoid arthritis with vasculitis Rheumatoid vasculitis richter transformation Richter syndrome dominant hereditary sensory neuropathy, type iii fd hereditary sensory and autonomic neuropathy 3 hereditary sensory and autonomic neuropathy type 3 hereditary sensory and autonomic neuropathy, type iii hereditary sensory neuropathy type 3 hsan 3 hsan iii hsan3 hsn 3 neuropathy, hereditary sensory and autonomic, type 3 riley day syndrome Familial dysautonomia brazilian spotted fever rmsf - rocky mountain spotted fever rocky mountain tick fever sao paulo fever Rocky mountain spotted fever destombes-rosac/-dorfman disease destombes-rosaï-dorfman disease histiocytosis, sinus rdd rosac/-dorfman-destombes disease rosai-dorfman disease rosaï-dorfman disease rosaï-dorfman-destombes disease shml Sinus histiocytosis with massive lymphadenopathy familial apoc-ii deficiency familial apoc2 deficiency hyperlipoproteinemia, type ib Familial apolipoprotein c-ii deficiency Broad thumb-hallux syndrome Broad thumbs-halluces syndrome Rubinstein syndrome proximal chromosome 16p13.3 deletion syndrome Rubinstein-taybi syndrome disease of sacral nerve plexus disease or disorder of sacral nerve plexus disorder of sacral nerve plexus sacral nerve plexus disease sacral nerve plexus disease or disorder sacral plexopathy Sacral nerve plexus disorder acrocephalosyndactyly type 3 acrocephalosyndactyly, type iii acs iii acs3 saethre chotzen syndrome saethre-chotzen syndrome with or without eyelid anomalies saethre-chotzen syndrome, fgfr2-related scs Saethre-chotzen syndrome HED anhidrotic ectodermal dysplasia anhidrotic ectodermal dysplasia 1 anhidrotic ectodermal dysplasia 3 ectodermal dysplasia 1, Anhydrotic hypohidrotic X-linked ectodermal dysplasia Hypohidrotic ectodermal dysplasia pphs sapho - synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome synovitis acne pustulosis hyperostosis osteomyelitis syndrome synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome synovitis-acne-pustulosis-hyperostosis-osteitis syndrome SAPHO syndrome Besnier-Boeck-Schaumann disease Boeck sarcoid Boeck's sarcoid Boeck's sarcoidosis Darier-Roussy sarcoid besnier-Boeck-Schaumann syndrome lymphogranulomatosis sarcoid Sarcoidosis X-linked SPMD X-linked scapuloperoneal syndrome scapuloperoneal myopathy, X-linked dominant, X-linked dominant X-linked scapuloperoneal muscular dystrophy familial capillaritis pigmented purpuric eruption Pigmented purpuric lichenoid dermatitis of Gougerot and Blum addison's disease with struma lymphomatosa aps ii aps type 2 aps2 autoimmune polyendocrine syndrome type 2 autoimmune polyendocrine syndrome type ii autoimmune polyendocrinopathy type 2 autoimmune thyroid disease and/or type 1 diabetes-addison disease syndrome diabetes mellitus, addison's disease and myxedema pga - polyglandular autoimmune syndrome - type ii pga ii polyglandular autoimmune syndrome - type ii polyglandular type ii autoimmune syndrome primary hypothyroidism and adrenocortical insufficiency schmidt syndrome type 2 polyendocrine autoimmunity syndrome Polyglandular autoimmune syndrome, type 2 arndt-gottron disease arndt-gottron syndrome generalised lichenoid papular eruption generalised papular and sclerodermoid lichen myxedematosus generalized lichenoid papular eruption generalized papular and sclerodermoid lichen myxedematosus scleromyxoedema Scleromyxedema kuru encephalitis kuru encephalopathy Kuru hesx1-related combined pituitary hormone deficiency septo optic dysplasia septooptic dysplasia sod Septo-optic dysplasia sequence combined t and b cell inborn immunodeficiency combined t-cell and b-cell immunodeficiency immunodeficiency, severe combined scid scid - severe combined immunodeficiency severe combined immunodeficiency (disease) severe combined immunodeficiency disease Severe combined immunodeficiency ctcl / sezary syndrome cutaneous t-cell lymphoma/sezary syndrome sezary disease sezary lymphoma sezary syndrome, somatic sézary disease sézary lymphoma sézary's disease sézary's syndrome Sezary syndrome Sheehan syndrome Aarskog-Ose-Pande syndrome Rieger anomaly-partial lipodystrophy syndrome lipodystrophy-Rieger anomaly-diabetes syndrome Short syndrome shwartzman reaction shwartzman reaction (function) shwartzman reaction, function Shwartzman phenomenon Normomorphic sialidosis cherry-red spot-myoclonus syndrome lipomucopolysaccharidosis normosomatic sialidosis Sialidosis type 1 arachnodactyly and intellectual disability with facial dysmorphism syndrome de die, smulders, vles, fryns syndrome de die-smulders-vles-fryns syndrome die smulders vles fryns syndrome Arachnodactyly-intellectual disability-dysmorphism syndrome pneumoconiosis due to silica pneumoconiosis due to silicates silica pneumoconiosis silicotic fibrosis of lung Silicosis bulldog syndrome dgsx golabi-rosen syndrome sara angers syndrome sdys sgb syndrome sgbs1 simpson dysmorphia syndrome x-linked dysplasia gigantism syndrome Simpson-Golabi-Behmel syndrome symmelia sympodia Sirenomelia phytosterolemia Sitosterolemia fao - fatty alcohol-nicotinamide adenine dinucleotide oxidase-reductase deficiency fatty acid alcohol oxidoreductase deficiency fatty alcohol-nicotinamide adenine dinucleotide oxidoreductase deficiency senior-løken syndrome sjogren larsson syndrome sjogren-larsson's syndrome sls Sjogren-larsson syndrome ehrmann sneddon syndrome ehrmann-sneddon syndrome idiopathic livedo reticularis with systemic involvement livedo racemosa and cerebrovascular accident livedo racemosa-cerebrovascular accident syndrome livedo reticularis and cerebrovascular accident syndrome livedo reticularis-cerebrovascular accident syndrome sndns Sneddon syndrome sphingolipidoses Sphingolipidosis isolated spina bifida (disease) nonsyndromic spina bifida (disease) rachischisis Isolated spina bifida sma sma - spinal muscular atrophy spinal muscle degeneration spinal muscle wasting spinal muscular atrophy (smn1) spinal muscular atrophy (smn2) Spinal muscular atrophy neoplasm of spleen spleen tumor spleen tumour tumor of spleen tumour of spleen Spleen neoplasm sed sed and semd spondylo-epi-(meta)-physeal dysplasia spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia Spondyloepiphyseal dysplasia gss - gerstmann-straussler-scheinker syndrome prion dementia spinocerebellar ataxia and plaque-like deposits spongiform encephalopathy subacute spongiform encephalopathy, gerstmann-straussler type Gerstmann-Straussler-Scheinker syndrome infection by sporothrix schenkii Sporotrichosis congenital, upward displacement of the scapula high scapula high shoulder blade sprengel anomaly sprengel deformity sprengel deformity (disease) undescended shoulder Congenital elevation of scapula 4-hydroxybutyric aciduria gabauria gamma-hydroxybutyric acidemia gamma-hydroxybutyric aciduria ssadh ssadh (succinic semialdehyde dehydrogenase) deficiency succinate-semialdehyde dehydrogenase deficiency Succinic semialdehyde dehydrogenase deficiency aromatic l-amino acid decarboxylase deficiency deficiency of dopa decarboxylase deficiency of hydroxytryptophan decarboxylase deficiency of tryptophan decarboxylase Deficiency of aromatic-L-amino-acid decarboxylase Dermatostomatitis, Stevens Johnson type Stevens Johnson syndrome Stevens-Johnson syndrome angiomatosis oculo-orbital-thalamo-encephalic syndrome encephalocutaneous angiomatosis encephalofacial angiomatosis encephalofacial hemangiomatosis encephalotrigeminal angiomatosis neuroretinoangiomatosis sturge weber syndrome sturge-kalischer-weber syndrome sturge-weber sequence sturge-weber syndrome, somatic, mosaic sturge-weber-dimitri syndrome sturge-weber-krabbe angiomatosis sturge-weber-krabbe syndrome sws Sturge-weber syndrome dawson's encephalitis dawson's inclusion body encephalitis immunosuppressive measles encephalitis measles inclusion body encephalitis mibe - measles inclusion body encephalitis sspe sspe - subacute sclerosing panencephalitis subacute inclusion body encephalitis subacute sclerosing leukoencephalopathy subacute sclerosing panencephalitis (disorder) [ambiguous] van bogaert disease van bogaert encephalitis van bogaert sclerosing leukoencephalitis van bogaert's sclerosing leukoencephalitis Subacute sclerosing panencephalitis smas smas - superior mesenteric artery syndrome superior mesenteric artery syndromic disease syndromic disease of superior mesenteric artery Superior mesenteric artery syndrome RED-M Retinocochleocerebral vasculopathy SICRET syndrome retinopathy-encephalopathy-deafness associated with microangiopathy small infarctions of cochlear, retinal and encephalic tissue Susac syndrome rheumatic chorea sydenham's chorea Sydenham chorea malignant synovioma sarcoma, synovial, malignant synovial sarcoma (disease) synovialosarcoma synovioma synovioma, malignant Synovial sarcoma fluid-filled cyst in spinal cord myelosyringosis syringomyelia-anesthesia syndrome syrinx Syringomyelia acquired aortoarteritis aortic arch arteritis aortic arch syndrome arteritis, takayasu atypical coarctation idiopathic aortitis idiopathic medial aortopathy and arteriopathy martorell syndrome nonspecific aortoarteritis nonspecific arteritis occlusive thromboarteriopathy pharyngeal arch artery syndromic disease primary arteritis raeder-harbitz syndrome reverse coarctation sclerosing aortitis and arteritis takayasu's arteriopathy takayasu's disease Takayasu arteritis atp-binding cassette transporter a1 deficiency defective adenosine triphosphate-binding cassette transporter a1 familial alpha-lipoprotein deficiency familial high density lipoprotein deficiency Tangier disease tarsal tunnel syndrome (ankle condition) tts - tarsal tunnel syndrome Tarsal tunnel syndrome disease, tay-sachs gm2 gangliosidosis, b, b1 variant gm2-gangliosidosis, several forms hex a pseudodeficiency severe hexosaminidase a deficiency Tay-sachs disease ators Arterial tortuosity syndrome deficiency of tetrahydrobiopterin hyperphenylalaninemia due to bh4 (tetrahydrobiopterin) deficiency hyperphenylalaninemia due to bh4 deficiency non-phenylketonuric hyperphenylalaninemia tetrahydrobiopterin deficiency tetrahydrobiopterin synthesis defect Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 48,xxxx syndrome quadruple x tetra x tetrasomy type x tetrasomy x xxxx syndrome Four X syndrome hereditary leptocytosis sickle-cell thalassemia with crisis sickle-cell thalassemia without crisis thalassemia hb-s disease with crisis thalassemia hb-s disease without crisis thalassemia syndrome Thalassemia amc amc - arthrogryposis multiplex congenita arthrogryposis arthrogryposis multiplex arthrogryposis, congenital arthromyodysplasia congenita congenital arthromyodysplasia congenital multiple arthrogryposis multiple congenital arthrogryposis multiple congenital contractures myodysplasia Arthrogryposis multiplex congenita Tick paralysis albinism-deafness of tietz albinism-deafness syndrome of tietz hypopigmentation-deafness syndrome hypopigmentation-hearing loss syndrome hypopigmentation/deafness of tietz tietz albinism-deafness syndrome Tietz syndrome painful ophthalmoplegia tolosa hunt syndrome Tolosa-Hunt syndrome imperforate anus with hand, foot and ear anomalies imperforate anus-hand, foot and ear anomalies syndrome rear syndrome sensorineural deafness with imperforate anus and hypoplastic thumbs sensorineural hearing loss with imperforate anus and hypoplastic thumbs tbs townes brocks syndrome townes syndrome Townes-Brocks syndrome congenital muscular dystrophy producing arthrogryposis congenital muscular dystrophy, producing arthrogryposis Arthrogryposis due to muscular dystrophy tec - transient erythroblastopenia of childhood transient acquired pure red cell aplasia Transient erythroblastopenia of childhood carcinoma of transitional epithelial cell carcinoma of urothelial cell carcinoma, urothelial, malignant tcc - transitional cell carcinoma transitional epithelial cell carcinoma urothelial cell carcinoma Transitional cell carcinoma classical transposition of great vessels complete transposition complete transposition of great vessels tga tgv total great vessel transposition transposition of the great vessels Transposition of the great arteries amelogenesis imperfecta - osteosclerosis syndrome taurodontism - curly hair - osteosclerosis syndrome tdo tdo - trichodento-osseous syndrome tdo syndrome tricho dento osseous syndrome trichodento-osseous syndrome trichodentoosseous syndrome trichodontoosseous syndrome Tricho-dento-osseous syndrome sugio-kajii syndrome trichorhinophalangeal dysplasia (syndrome) types 1/3 trichorhinophalangeal dysplasia type i trichorhinophalangeal dysplasia types 1/3 trichorhinophalangeal syndrome i trichorhinophalangeal syndrome type 1 trichorhinophalangeal syndrome, type 1 trichorhinophalangeal syndrome, type i trps 1 trps i trps i - trichorhinophalangeal syndrome i trps1 type i trichorhinophalangeal syndrome type iii trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type I deletion 8q24.1 monosomy 8q24.1 trichorhinophalangeal dysplasia type ii trichorhinophalangeal syndrome ii trichorhinophalangeal syndrome type 2 trichorhinophalangeal syndrome with exostosis trps ii - trichorhinophalangeal syndrome ii Langer-Giedion syndrome TRPS 3 TRPS3 Trichorhinophalangeal Syndrome Type III trichorhinophalangeal syndrome type 3 trichorhinophalangeal syndrome, type 3 Trichorhinophalangeal syndrome, type iii fothergill's neuralgia neuralgia of trigeminal nerve tn - trigeminal neuralgia trifacial neuralgia trifocal neuralgia trigeminal nerve neuralgia Trigeminal neuralgia mosaic trisomy 6 Trisomy 6 africam sleeping sickness african sleeping sickness sleeping sickness Human African trypanosomiasis meningitis, tuberculous tb - tuberculous meningitis tb meningitis tbm - tuberculous meningitis Tuberculosis of meninges bourneville disease bourneville syndrome bourneville's syndrome epiloia ts - tuberous sclerosis tsc tuberose sclerosis tuberous sclerosis syndrome Tuberous sclerosis 45,x gonadal dysgenesis 45,x syndrome 45,x/46,xx syndrome 45,x0 syndrome 45x syndrome gonadal dysgenesis - turner karyotype 45, x monosomy x syndrome mx pterygolymphangiectasia syndrome ts - turner's syndrome turner's syndrome Turner syndrome disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia disorder of urea cycle disorder of urea cycle metabolism inborn disorder of urea cycle metabolism and ammonia detoxification urea cycle defect urea cycle disorder urea cycle disorders Disorder of the urea cycle metabolism arthrogryposis-like hand anomaly and sensorineural deafness syndrome arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome distal arthrogryposis type 6 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome cm cutaneous (skin) mastocytosis cutaneous mastocytosis (disease) mastocytosis, cutaneous mastocytosis, diffuse cutaneous mastocytosis, maculopapular cutaneous mastocytosis, systemic, somatic Cutaneous mastocytosis retinitis pigmentosa-hearing loss syndrome ush usher syndromes usher's syndrome Usher syndrome GRHL3 van der Woude syndrome Van Der Woude syndrome type 2 van der Woude syndrome caused by mutation in GRHL3 Van der woude syndrome 2 dean-barnes syndrome mixed porphyria protocoproporphyria protoporphyrinogen oxidase deficiency south african genetic porphyria south african porphyria vp - variegate porphyria Variegate porphyria cutaneous hypersensitivity vasculitis hypersensitivity angiitis Cutaneous leukocytoclastic angiitis Spring catarrh Vernal Keratonconjunctivitis Vernal keratoconjunctivitis familial cerebello-retinal angiomatosis familial cerebelloretinal angiomatosis hippel lindau syndrome lindau disease lindau' disease lindau's disease vhl vhl (von hippel-lindau) syndrome vhls von hippel-lindau von hippel-lindau syndrome, modifier of Von hippel-lindau disease aho-pphp syndrome albright hereditary osteodystrophy-pphp syndrome normocalcemic pseudohypoparathyroidism normocalcemic pseudohypoparathyroidism (disorder) [ambiguous] Pseudopseudohypoparathyroidism harada disease harada's disease uveomenigitic syndrome vkh - vogt-koyanagi-harada syndrome vogt's disease vogt-koyanagi syndrome Vogt-Koyanagi-Harada disease g6p deficiency type 1a g6pc glycogen storage disease glycogen storage disease caused by mutation in g6pc glycogen storage disease due to g6p deficiency type ia glycogen storage disease type 1a glycogenosis due to glucose-6-phosphatase deficiency type 1a glycogenosis due to glucose-6-phosphatase deficiency type ia glycogenosis type ia gsd due to g6p deficiency type 1a gsd due to g6p deficiency type ia gsd type 1a gsdia Glycogen storage disease due to glucose-6-phosphatase deficiency type ia multiple non-ossifying fibromatosis neurofibromatosis type i neurofibromatosis, type 1 neurofibromatosis, type i, somatic nf1 nf1 - neurofibromatosis type 1 nf1-microdeletion syndrome nonmosaic neurofibromatosis type 1 nonmosaic nf1 peripheral type neurofibromatosis Neurofibromatosis type 1 DA1 arthrogryposis multiplex congenita distal type 1 distal arthrogryposis type 1 Digitotalar dysmorphism VCAN-related vitreoretinopathy Wagner syndrome dominant hyaloideoretinal dystrophy of Wagner vitreoretinal degeneration, Wagner type Wagner disease lymphoplasmacytic lymphoma with igm gammopathy macroglobulinemia primary macroglobulinemia Waldenstrom macroglobulinemia intestinal lymphatic obstruction primary lymphangiectasis of intestine waldmann disease Primary intestinal lymphangiectasia aiha - warm autoimmune hemolytic anemia hemolytic anemia due to warm antibody waha waiha warm aiha warm autoimmune hemolytic anemia warm type hemolytic anemia Autoimmune hemolytic anemia, warm type gave gave - gastric antral vascular ectasia watermelon stomach Vascular ectasia of gastric antrum camptodactyly-overgrowth-unusual facies syndrome Weaver syndrome idiopathic lobular panniculitis idiopathic nodular panniculitis nodular non-suppurative febrile panniculitis nodular nonsuppurative panniculitis pfeiffer-weber-christian syndrome relapsing febrile nodular nonsuppurative panniculitis relapsing febrile nodular panniculitis relapsing panniculitis systemic nodular panniculitis wcd weber - christian disease weber christian panniculitis weber-christian panniculitis weber-kindler syndrome Nodular non-suppurative panniculitis GPA Wegener's syndrome necrotizing respiratory granulomatosis pauci-immune glomerulonephritis associated with granulomatosis with polyangiitis Granulomatosis with polyangiitis Leptospira caused disease or disorder Leptospira disease or disorder Leptospira infectious disease fort Bragg fever leptospirosis icterohaemorrhagica nanukayami fever rat catcher's yellows spirochetal jaundice Leptospirosis hereditary motor neuropathy proximal type i hmn (hereditary motor neuropathy) proximal type i infantile-onset spinal muscular atrophy progressive muscular atrophy of infancy sma i sma type 1 sma type i sma-i sma1 smni spinal muscular atrophy type i spinal muscular atrophy, type 1 spinal muscular atrophy-1 survival motor neuron spinal muscular atrophy werdnig hoffmann disease werdnig-hoffman disease whd - werdnig-hoffmann disease Werdnig-Hoffmann disease adult premature ageing syndrome adult premature aging syndrome pangeria progeria of the adult ws Werner syndrome iess infantile epileptic spasms syndrome infantile spasms intellectual disability-hypsarrhythmia syndrome lightning spasms west's syndrome West syndrome encephalitis, western equine wee - western equine encephalitis western equine encephalitis virus caused infectious encephalitis western equine encephalitis virus infectious encephalitis Western equine encephalitis intestinal lipodystrophy intestinal lipophagic granulomatosis intestinal whipple's disease secondary non-tropical sprue tropheryma whipplei caused disease or disorder tropheryma whipplei disease or disorder tropheryma whipplei infectious disease wd - whipple's disease Whipple's disease apraxia, oculomotor, with congenital contractures and muscle atrophy contractures of feet, muscle atrophy, and oculomotor apraxia foot contracture, muscle atrophy, oculomotor apraxia syndrome foot contractures-muscle atrophy-oculomotor apraxia syndrome intellectual disability, developmental delay, contracture syndrome intellectual disability-developmental delay-contractures syndrome miles-carpenter syndrome mrxs4 wieacker syndrome wieacker wolff syndrome wieacker-wolff syndrome, x-linked wieacker-wolff syndrome, x-linked recessive wieacker-wolff, x-linked recessive wrwf wrwfxlr x-linked intellectual disability, miles-carpenter type zc4h2-associated rare disorders (zard) Wieacker-wolff syndrome deletion 7q11.23 fanconi schlesinger syndrome monosomy 7q11.23 william syndrome williams beuren syndrome Williams syndrome nephroblastoma nephroblastoma, malignant renal embryonic tumor renal embryonic tumour renal wilms tumor renal wilms tumour renal wilms' tumor renal wilms' tumour wilms tumor of the kidney wilms tumour of the kidney wilms' tumor of the kidney wilms' tumour of the kidney Kidney Wilms tumor cerebral pseudosclerosis copper storage disease hepatocerebral degeneration hepatolenticular degeneration syndrome kinnier-wilson disease neurohepatic degeneration progressive lenticular degeneration pseudosclerotic type of wilson's disease wd - wilson's disease westphal pseudosclerosis westphal-strumpell cerebral pseudosclerosis westphal-strumpell form of wilson's disease westphal-strumpell syndrome Wilson disease MMP14-related multicentric osteolysis, nodulosis, and arthropathy MONA, MMP14-related WNCHRS multicentric osteolysis, nodulosis and arthropathy, MMP14-related Winchester syndrome eczema, thrombocytopenia, immunodeficiency syndrome eczema-thrombocytopenia-immunodeficiency syndrome immunodeficiency 2 immunodeficiency with thrombocytopenia and eczema was was - wiskott-aldrich syndrome wiskott syndrome wiskott-aldrich syndrome 1 wiskott-aldrich syndrome, somatic wiskott-aldrich syndrome, x-linked recessive Wiskott-aldrich syndrome 4p minus syndrome 4p partial monosomy syndrome 4p- syndrome chromosome 4 short arm deletion syndrome deletion of short arm of chromosome 4 distal deletion 4p distal monosomy 4p midline fusion defect syndrome pitt syndrome pitt-rogers-danks syndrome telomeric deletion 4p wittwer syndrome wolf hirschhorn syndrome wolf-hirschhorn syndrome, isolated cases Wolf-hirschhorn syndrome diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome diabetes mellitus and insipidus with optic atrophy and deafness didmoad didmoad (diabetes insipidus, diabetes mellitus, optic atrophy, deafness) syndrome didmoad syndrome marquardt-loriaux syndrome wfs Wolfram syndrome acid cholesteryl ester hydrolase deficiency, wolman type acid esterase deficiency acid lipase deficiency acid lipase disease cholesterol ester hydrolase deficiency, complete lal deficiency, complete lipa deficiency, complete lysosomal acid lipase deficiency, acute infantile lysosomal acid lipase deficiency, complete wold wolman disease with hypolipoproteinemia and acanthocytosis wolman disease, cesd wolman xanthomatosis wolman's disease wolman's or triglyceride storage type iii disease xanthomatosis, familial Wolman disease jansen disease jansen metaphyseal chondrodysplasia jansen metaphyseal dysostosis jansen type metaphyseal chondrodysplasia jansen's metaphyseal chondrodysplasia metaphyseal chondrodysplasia murk jansen type metaphyseal chondrodysplasia, murk jansen type metaphyseal dysostosis, jansen type murk jansen type metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, jansen type amc neurogenic type amc2 amcn arthrogryposis multiplex congenita neurogenic type neurogenic arthrogryposis multiplex congenita Arthrogryposis multiplex congenita 2, neurogenic type cams2 cerebral-retinal arteriovenous aneurysm cerebrofacial arteriovenous metameric syndrome type 2 wyburn-mason's syndrome Wyburn-Mason syndrome ichthyosis (disease), x-linked ichthyosis , x-linked, x-linked recessive ichthyosis, x linked rxli sex-linked ichthyosis steroid sulfatase deficiency x-linked ichthyosis with steryl-sulfatase deficiency x-linked ichthyosis with steryl-sulphatase deficiency x-linked placental steryl-sulphatase deficiency x-linked recessive ichthyosis xli Recessive x-linked ichthyosis angioma pigmentosum atrophicum atrophoderma pigmentosum kaposi dermatosis kaposi disease melanosis lenticularis progressiva pigmented epitheliomatosis xeroderma of kaposi xeroderma pigmentosum syndrome xp xp - xeroderma pigmentosum Xeroderma pigmentosum bouba buba frambesia frambesia tropica frambosie infection by treponema pertenue pian polypapilloma tropicum thymosis treponema pallidum subsp. pertenue caused disease or disorder treponema pallidum subsp. pertenue disease or disorder treponema pallidum subsp. pertenue infectious disease Yaws bronze john jungle yellow fever sylvatic yellow fever urban yellow fever yellow fever virus caused disease or disorder yellow fever virus disease or disorder yellow fever virus infectious disease yellow fever, sylvan yellow jack yf yf - yellow fever Yellow fever cerebrohepatorenal syndrome congenital iron overload severe pbd-zsd severe peroxisome biogenesis disorder-zellweger spectrum disorder zellweger spectrum zellweger spectrum disorder zellweger's syndrome zs zws Zellweger spectrum disorders excessive gastrin secretion ze - zollinger-ellison syndrome zollinger-ellison syndrome (disease) Zollinger-Ellison syndrome arthrogryposis multiplex congenita and whistling face syndrome illium syndrome Arthrogryposis multiplex congenita-whistling face syndrome md - muscular dystrophy muscle biopsy shows dystrophic changes pmd - progressive muscular dystrophy Muscular dystrophy arc (arthrogryposis, renal dysfunction, cholestasis) syndrome arc syndrome arthrogryposis, renal dysfunction and cholestasis (arc) syndrome arthrogryposis, renal dysfunction, and cholestasis arthrogryposis-renal dysfunction-cholestasis arthrogryposis-renal dysfunction-cholestasis syndrome Arthrogryposis with renal dysfunction and cholestasis syndrome JBS pancreatic insufficiency, combined exocrine Johanson-blizzard syndrome avc defect Familial atrioventricular septal defect alagille-watson syndrome syndromic bile duct paucity watson-alagille syndrome Arteriohepatic dysplasia bahemuka-brown syndrome spastic paraplegia, facial cutaneous lesion syndrome Spastic paraplegia-facial-cutaneous lesions syndrome balantidial dysentery balantidiosis ciliary dysentery disease caused by balantidiidae Balantidiasis brooks wisniewski brown syndrome brooks-wisniewski-brown syndrome intellectual developmental disorder, x-linked, syndromic, turner type mrxst syndromic x-linked intellectual disability turner type x-linked intellectual disability brooks type x-linked intellectual disability, brooks type Intellectual disability, X-linked syndromic, Turner type ataxia-diabetes-goiter-gonadal insufficiency syndrome bangstad syndrome Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency Banki syndrome elevated urine 4-hydroxyphenylacetic acid level 4-hydroxyphenylacetic aciduria baraitser burn syndrome baraitser-burn syndrome mohr majewski syndrome mohr-majewski syndrome ofd iv - orofacial-digital syndrome iv ofd4 ofds iv oral-facial-digital syndrome type 4 oral-facial-digital syndrome, type iv orofaciodigital syndrome iv orofaciodigital syndrome type 4 orofaciodigital syndrome type iv Orofacial-digital syndrome IV idiopathic sclerosing mesenteritis igg4-related mesenteritis isolated mesenteric lipodystrophy lipomatous mesenteritis liposclerotic mesenteritis mesenteric fibromatosis mesenteric lipodystrophy mesenteric lipogranuloma mesenteric panniculitis peritoneal retractile mesenteritis retractile mesenteritis Sclerosing mesenteritis ach achondroplastic dwarf achondroplastic physique chondrodystrophia chondrodystrophia fetalis congenital osteosclerosis osteosclerosis congenita Achondroplasia cryptomicrotia, brachydactyly, excess fingertip arch syndrome tonoki-ohura-niikawa syndrome Cryptomicrotia-brachydactyly-excess fingertip arch syndrome HYPT7 LIPH hypotrichosis Lah2 hypotrichosis caused by mutation in LIPH hypotrichosis type 7 hypotrichosis, localized, autosomal recessive 2 total Mari type hypotrichosis, woolly hair, autosomal recessive 2 with or without hypotrichosis wooly hair, autosomal recessive 2 with or without hypotrichosis Hypotrichosis 7 cushing symphalangism cushing's symphalangism proximal interphalangeal joint symphalangism cushing type proximal symphalangism (disease) symphalangism cushing type symphalangism, cushing type vessel's syndrome Proximal symphalangism cfc1-related conotruncal heart malformations conotruncal heart malformations, variable taussig-bing syndrome or defect Conotruncal heart malformations hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Barber-say syndrome cysticerciasis infection by tapeworm larvae infection caused by tapeworm larvae intestinal taenia solium infection larval tapeworm infection larval teniasis pork tapeworm infection tapeworm infection: [intestinal taenia solium] or [pork] tapeworm infection: intestinal taenia solum tapeworm infection: pork tenia solium infectious disease Cysticercosis anguilluliasis anguillulosis disseminated strongyloidiasis infection caused by strongyloides strongyloidosis Infection by Strongyloides 17p11.2 microdeletion syndrome smith magenis syndrome smith-magenis syndrome, isolated cases sms Smith-magenis syndrome combined immunodeficiency with hypereosinophilia histiocytic medullary reticulosis Omenn syndrome short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome Kbg syndrome BBS1 Bardet-Biedl syndrome 1, modifier of Bardet-Biedl syndrome type 1 Bardet-biedl syndrome 1 acute vascular purpura allergic purpura anaphylactoid purpura autoimmune purpura henoch's purpura henoch-schoenlein purpura henoch-schoenlein vasculitis henoch-scholein purpura henoch-schonlein purpura hsp hsp - henoch-schonlein purpura iga (immunoglobulin a) vasculitis iga vasculitis purpura rheumatica purpura, autoimmune rheumatoid purpura spring fever Immunoglobulin a vasculitis Ambras syndrome HTC1 Ambras type hypertrichosis universalis congenita benign pinealoma pinealocytoma pineocytoma (disease) pineocytoma, benign Pineocytoma ham/tsp htlv-1-associated myelopathy/tropical spastic paraparesis htlv-associated myelopathy htlv-i-associated myelopathy human t-cell lymphotropic virus 1-associated myelopathy human t-lymphotropic virus type i-associated myelopathy/tropical spastic paraparesis human t-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis myelopathy caused by human t-lymphotropic virus 1 paraparesis, tropical spastic tropical spastic paralysis tropical spastic paraparesis tropical spastic paraplegia tsp HTLV-1-associated myelopathy-tropical spastic paraparesis BBS2 BBS2 Bardet-Biedl syndrome Bardet-Biedl syndrome caused by mutation in BBS2 Bardet-Biedl syndrome type 2 Bardet-biedl syndrome 2 malignant peripheral nerve sheath tumour malignant schwannoma neurosarcoma neurosarcoma [obs] Neurofibrosarcoma epilepsy progressive myoclonic 2 epilepsy, progressive myoclonic 2a (lafora) epilepsy, progressive myoclonic 2b (lafora) lafora progressive myoclonic epilepsy lafora's disease myoclonic epilepsy of lafora pme type 2 progressive myoclonic epilepsy type 2 progressive myoclonus epilepsy type 2 progressive myoclonus epilepsy, lafora type Lafora disease Mansonellosis Mansonelliasis Large-cell immunoblastic lymphoma BBS3 Bardet-Biedl syndrome type 3 Bardet-biedl syndrome 3 b prolymphocytic leukaemia b-pll prolymphocytic leukemia of b-cell type prolymphocytic leukemia, b-cell type B-cell prolymphocytic leukemia chronic myelomonocytic leukaemia chronic myelomonocytic leukaemia (cmml) chronic myelomonocytic leukemia (cmml) cmml Chronic myelomonocytic leukemia granulocytic leukemia leukaemia granulocytic leukaemia myelogenous leukaemia myeloid leukemia granulocytic leukemia myelogenous leukemia myeloid leukemia, granulocytic, malignant myelocytic leukaemia myelocytic leukemia myelogenous leukaemia myeloid granulocytic leukaemia myeloid granulocytic leukemia myeloid leukaemia non-lymphoblastic leukaemia non-lymphoblastic leukemia non-lymphocytic leukaemia non-lymphocytic leukemia Myeloid leukemia BBS4 Bardet-Biedl syndrome type 4 Bardet-biedl syndrome 4 homocysteinemia Hyperhomocysteinemia non-Langerhans-cell histiocytosis Non-langerhans cell histiocytosis haemangioblastoma Hemangioblastoma acid beta-glucosidase deficiency adult gaucher disease chronic adult gaucher's disease chronic non-neuropathic gaucher disease chronic non-neuropathic gaucher's disease gaucher syndrome gaucher's disease glocucerebrosidase deficiency glucocerebrosidase deficiency glucocerebrosidosis glucosylceramidase deficiency glucosylceramidase deficiency, chronic type glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis lipoid histiocytosis (kerasin type) Gaucher disease rheumatoid arthritis with splenoadenomegaly and leukopenia rheumatoid arthritis, leukopenia and splenomegaly splenomegaly-neutropenia-rheumatoid arthritis syndrome Felty syndrome anaplastic choroid plexus papilloma carcinoma, choroid plexus, malignant choroid plexus carcinoma (morphologic abnormality) choroid plexus papilloma, anaplastic choroid plexus papilloma, malignant cpc Choroid plexus carcinoma hla class 2-negative scid hla class 2-negative severe combined immunodeficiency immunodeficiency by defective expression of hla class type 2 immunodeficiency by defective expression of mhc class ii major histocompatibility complex class ii expression deficiency mhc class ii expression deficiency scid due to absent class ii hla antigens severe combined immunodeficiency, hla class ii negative MHC class II deficiency sea-blue histiocyte Sea-blue histiocyte syndrome 5-nucleotidase syndrome AISA MDS with ring sideroblasts MDS-RS Pure sideroblastic Anaemia Pure sideroblastic Anemia RARS acquired idiopathic sideroblastic anaemia acquired idiopathic sideroblastic anemia primary acquired sideroblastic anaemia primary acquired sideroblastic anemia refractory Anaemia with Ring sideroblasts refractory Anemia with Ring sideroblasts refractory anaemia with ringed sideroblasts refractory anemia with ringed sideroblasts Myelodysplastic syndrome with ring sideroblasts aids (acquired immunodeficiency syndrome) dementia complex dementia with acquired immunodeficiency syndrome dementia with aids (acquired immunodeficiency syndrome) Dementia associated with AIDS ohf - omsk hemorrhagic fever Omsk hemorrhagic fever kf - kyasanur forest disease kfd - kyasanur forest disease kyasanur forest disease virus caused disease or disorder kyasanur forest disease virus disease or disorder kyasanur forest disease virus infectious disease kyasanur hemorrhagic fever Kyasanur forest disease endodermal sinus tumour of mediastinum endodermal sinus tumour of the mediastinum mediastinal endodermal sinus tumour mediastinal yolk sac tumour mediastinum yolk sac tumor mediastinum yolk sac tumour yolk sac tumour of mediastinum yolk sac tumour of the mediastinum Mediastinal yolk sac tumor brown-kelly-paterson syndrome kelly-paterson syndrome plummer-vinson-patterson-kelly syndrome sideropenic dysphagia Plummer-Vinson syndrome fmd - frontometaphyseal dysplasia fmd1 Frontometaphyseal dysplasia hoffmann syndrome kocher debre semelaigne syndrome kocher-debré-semelaigne syndrome muscular pseudohypertrophy and hypothyroidism syndrome Muscular pseudohypertrophy-hypothyroidism syndrome erythrokeratolysis hiemalis oudtshoorn disease winter erythrokeratolysis Keratolytic winter erythema de sanctis cacchione syndrome ercc6 De sanctis-cacchione syndrome CTRCT40 NHS early-onset non-syndromic cataract cataract 40 X-linked cataract 40 with or without microcornea cataract type 40 early-onset non-syndromic cataract caused by mutation in NHS Cataract 40 amyld2 amyloid nephropathy of ostertag amyloidosis, 3 or more types amyloidosis, familial renal amyloidosis, hepatic and systemic amyloidosis, hereditary systemic 2 amyloidosis, ostertag type amyloidosis, renal apoa1-related familial visceral amyloidosis familial amyloid nephropathy familial renal amyloidosis familial visceral amyloidosis fga-related familial visceral amyloidosis german type amyloidosis hereditary amyloid nephropathy hereditary amyloidosis with primary renal involvement hereditary renal amyloidosis lyz-related familial visceral amyloidosis ostertag type amyloidosis systemic nonneuropathic amyloidosis Familial visceral amyloidosis, Ostertag type Diamond-blackfan anemia 2 deficiency of isolated coq cytochrome c reductase deficiency of mitochondrial complex iii deficiency of ubiquinone cytochrome c oxidoreductase isolated coenzyme q-cytochrome c reductase deficiency isolated coq-cytochrome c reductase deficiency isolated mitochondrial respiratory chain complex iii deficiency isolated ubiquinone-cytochrome c reductase deficiency mc3dn1 Mitochondrial complex III deficiency kenny-caffey syndrome, autosomal dominant Autosomal dominant kenny-caffey syndrome absent tibia-polydactyly syndrome hypoplastic or aplastic tibia with polydactyly hypoplastic tibiae-postaxial polydactyly syndrome mesomelic dysplasia, werner type werner mesomelic spectrum werner mesomelic syndrome Tibia, hypoplasia or aplasia of, with polydactyly dm1 dmpk myotonic dystrophy md1 myotonic dystrophy caused by mutation in dmpk myotonic dystrophy of steinert myotonic dystrophy type 1 steinert disease steinert syndrome Steinert myotonic dystrophy syndrome bdplt3 platelet type pseudo-von willebrand disease platelet type-von willebrand disease pseudo-von willebrand disease type 2b pt-vwd pt-vwd - platelet type-von willebrand disease von willebrand disease platelet-type Pseudo von Willebrand disease Dendritic cell tumor ao2 aoii atelosteogenesis de la chapelle type atelosteogenesis type 2 neonatal osseous dysplasia i neonatal osseous dysplasia type 1 Atelosteogenesis type ii ddon syndrome deafness dystonia optic atrophy syndrome deafness dystonia optic neuronopathy syndrome deafness dystonia optic neuronopathy syndrome (ddon) deafness-dystonia syndrome deafness-dystonia-optic neuronopathy syndrome dystonia deafness syndrome dystonia-deafness syndrome, x-linked hearing loss-dystonia-optic neuronopathy syndrome mohr-tranebjaerg syndrome, x-linked recessive nerve deafness optic nerve atrophy, and dementia opticoacoustic nerve atrophy with dementia opticoacustic nerve atrophy with dementia syndrome of opticoacoustic nerve atrophy with dementia Deafness dystonia syndrome ABSD Athabascan brainstem dysgenesis syndrome Athabaskan brainstem dysgenesis syndrome Navajo brainstem syndrome Human hoxa1 syndromes amish nemaline myopathy anm nem5 nem5a nemaline myopathy 5, amish type nemaline myopathy 5a, autosomal recessive, severe infantile nemaline myopathy caused by mutation in tnnt1 nemaline myopathy type 5 tnnt1 nemaline myopathy Nemaline myopathy 5 fibrosing mediastinitis fibrosis of mediastinum fibrous mediastinitis idiopathic hilar fibrosis mediastinal fibrosis sclerosing mediastinitis IgG4-related mediastinitis pascual-castroviejo syndrome type 2 phaces syndrome PHACE syndrome garland-moorhouse syndrome hereditary oligophrenic cerebello-lental degeneration marinesco-garland syndrome marinesco-sjã¶gren syndrome marshall smith syndrome oligophrenic cerebellolenticular degeneration Marinesco-sjogren syndrome spondylometaphyseal dysplasia golden type x-linked spondylometaphyseal dysplasia Spondylometaphyseal dysplasia, golden type cerebral amyloid angiopathy, british type cerebral amyloid angiopathy, itm2b-related, type 1 familial british dementia familial british dementia with amyloid angiopathy familial dementia british type familial dementia, british type fbd presenile dementia with spastic ataxia ABri amyloidosis BDPLT5 factor V Quebec platelet-type bleeding disorder 5 Quebec platelet disorder amelogenesis imperfecta - hypomaturation amelogenesis imperfecta, hypomaturation type hypomaturation amelogenesis imperfecta Amelogenesis imperfecta type 2 Bassoe syndrome Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome kaolin workers pneumoconiosis Kaolinosis Graphite pneumoconiosis Battaglia-Neri syndrome Epilepsy-microcephaly-skeletal dysplasia syndrome aldred syndrome chromosome xp11.3 deletion syndrome, x-linked recessive retinitis pigmentosa and intellectual disability due to del(x)(p11.3) retinitis pigmentosa and intellectual disability due to monosomy xp11.3 retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion xp11.3 deletion syndrome X-linked intellectual disability-retinitis pigmentosa syndrome kenny-caffey syndrome, autosomal recessive Autosomal recessive kenny-caffey syndrome congenital lactic acidosis saguenay-lac-saint-jean type cox deficiency, french-canadian type cytochrome c oxidase deficiency french-canadian type cytochrome c oxidase deficiency, french-canadian type cytochrome oxidase deficiency saguenay-lac-saint-jean type cytochrome oxidase deficiency, saguenay-lac-saint-jean type leigh syndrome french-canadian type leigh syndrome, french-canadian type leigh syndrome, saguenay-lac-saint-jean type mc4dn5 mitochondrial complex iv deficiency, nuclear type 5 mitochondrial complex iv deficiency, nuclear type 5, (french-canadian) slsj-cox deficiency Congenital lactic acidosis, saguenay-lac-saint-jean type barium lung barium lung disease barium pneumoconiosis baryta miners' disease barytosis Baritosis siderosilicosis Silicosiderosis Mixed dust pneumoconiosis ar polycystic kidney disease ar-pkd arpkd arpkd - autosomal recessive polycystic kidney disease autosomal recessive infantile polycystic kidney disease infantile polycystic kidney disease ipkd - infantile polycystic kidney disease polycystic kidney disease, autosomal recessive polycystic kidney disease, infantile type Autosomal recessive polycystic kidney disease acrokeratosis of bazex acrokeratosis paraneoplastica acrokeratosis paraneoplastica of bazex bazex syndrome bazex syndrome, x-linked dominant bazex-dupre-christol syndrome bazex-dupré-christol syndrome bdcs follicular atrophoderma and basal cell carcinomas Follicular atrophoderma and basal cell epitheliomata generalised arterial calcification of infancy generalized arterial calcification of infancy idiopathic infantile arterial calcification idiopathic obliterative arteriopathy infantile arteriosclerosis occlusive infantile arteriopathy Arterial calcification of infancy 2-methylacetoacetyl CoA thiolase deficiency 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency deficiency of hydroxymethylglutaryl-coa lyase hydroxymethylglutaric aciduria 3-hydroxy-3-methylglutaric aciduria deficiency of citrulline phosphorylase deficiency of ornithine carbamoyltransferase deficiency of ornithine transcarbamylase oct (ornithine carbamoyltransferase) deficiency oct deficiency ornithine transcarbamoylase deficiency otc (ornithine transcarbamylase) deficiency otc deficiency otc-gene related ornithine carbamoyltransferase deficiency otcd Ornithine carbamoyltransferase deficiency hypolipoproteinaemia hypolipoproteinemia (disease) lack of fat in blood lipoprotein deficiency disorder Hypolipoproteinemia brain demyelination due to methionine adenosyltransferase deficiency deficiency of methionine adenosyltransferase hepatic methionine adenosyltransferase deficiency hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase i/iii deficiency methionine adenosyltransferase deficiency, autosomal recessive Methionine adenosyltransferase deficiency AGPAT2 congenital generalised lipodystrophy (disease) AGPAT2 congenital generalized lipodystrophy (disease) BSCL1 Berardinelli-Seip congenital lipodystrophy, type 1 Brunzell syndrome AGPAT2-related CGL1 congenital generalised lipodystrophy (disease) caused by mutation in AGPAT2 congenital generalized lipodystrophy (disease) caused by mutation in AGPAT2 Congenital generalized lipodystrophy type 1 Galactorrhoea-hyperprolactinaemia Del Castillo syndrome Germinal cell aplasia SPGFX1 Sertoli cell-only syndrome spermatogenic failure, X-linked, type 1 X-linked spermatogenic failure 1 brunner-winter syndrome digital anomalies with short palpebral fissures and atresia of esophagus or duodenum digital anomalies with short palpebral fissures and atresia of oesophagus or duodenum fglds fs microcephaly-digital anomalies-normal intelligence syndrome microcephaly-intellectual disability-tracheoesophageal fistula syndrome microcephaly-mesobrachyphalangy-tracheoesophageal fistula syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome microcephaly-oculo-digito-oesophageal-duodenal syndrome mmt moded syndrome oculo-digito-esophageal-duodenal syndrome oculo-digito-esophagoduodenal syndrome oculo-digito-oesophagoduodenal syndrome oded syndrome Feingold syndrome acrofacial dysostosis, genee-wiedemann type acrofacial dysostosis, genee-wiedmann type mandibulfacial dysostosis with postaxial limb anomalies mandibulofacial dysostosis with postaxial limb anomalies miller syndrome poads postaxial acrodysostosis postaxial acrofacial dysostosis syndrome Postaxial acrofacial dysostosis cleft lip/palate with mucous cysts of lower lip lip-pit syndrome lip-pit-cleft lip syndrome vws Van der woude syndrome ffdd ffdd - focal facial dermal dysplasia Focal facial dermal dysplasia familial bilateral optic nerve hypoplasia optic nerve hypoplasia, bilateral optic nerve hypoplasia, familial bilateral Isolated optic nerve hypoplasia ankylosing hyperostosis ankylosing vertebral hyperostosis dish dish - diffuse idiopathic skeletal hyperostosis disseminated idiopathic skeletal hyperostosis Diffuse idiopathic skeletal hyperostosis isochromosome 12p mosaicism killian-teschler-nicola syndrome pallister killian mosaic syndrome pallister-killian syndrome, somatic mosaicism tetrasomy 12p tetrasomy 12p syndrome tetrasomy type 12p Pallister-Killian syndrome krause-kivlin syndrome krause-van schooneveld-kivlin syndrome peters anomaly with short limb dwarfism peters anomaly-short limb dwarfism syndrome Peters plus syndrome ketoaciduria-intellectual disability-ataxia-deafness syndrome ketoaciduria-intellectual disability-ataxia-hearing loss syndrome Richards-rundle syndrome iminoglycinuria, digenic Iminoglycinuria hypoplasia of thyroid hypoplastic thyroid small thyroid gland Thyroid hypoplasia crane heise syndrome Crane-heise syndrome Axial osteomalacia cmyo13 congenital myopathy 13 congenital myopathy, cleft palate. malignant hyperthermia syndrome congenital myopathy-cleft palate-malignant hyperthermia syndrome myopathy, congenital, baily-bloch stac3 disorder Bailey-Bloch congenital myopathy kds king-denborough syndrome koussef nichols syndrome koussef-nichols syndrome King Denborough syndrome PMDS persistent Muellerian duct syndrome persistent Mullerian derivatives persistent Müllerian derivatives persistent mullerian duct syndrome, type I persistent mullerian duct syndrome, type II Persistent Mullerian duct syndrome dementia, frontotemporal, with or without parkinsonism frontotemporal dementia with parkinsonism frontotemporal dementia with parkinsonism-17 frontotemporal lobar degeneration frontotemporal lobar degeneration with tau inclusions frontotemporal lobe dementia ftd ftd1 ftld with tau inclusions multiple system tauopathy with presenile dementia pallidopontonigral degeneration wilhelmsen-lynch disease wilhemsen-lynch disease Frontotemporal dementia congenital cervical hypertrichosis hairy throat syndrome hypertrichosis, congenital anterior cervical tsukahara-kajii syndrome Isolated anterior cervical hypertrichosis pulmonic stenosis, brachytelephalangism, calcification of cartilage syndrome pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome Keutel syndrome familial autosomal dominant periodic fever familial hibernian fever fhf hibernian fever, familial tnf receptor 1-associated periodic syndrome tnf receptor-associated periodic fever syndrome tnf receptor-associated periodic fever syndrome (traps) tnf receptor-associated periodic syndrome traps traps - tnf receptor-associated periodic fever syndrome traps syndrome tumor necrosis factor (tnf) receptor-associated periodic fever syndrome tumor necrosis factor receptor 1 associated periodic syndrome tumor necrosis factor receptor 1-associated periodic syndrome tumor necrosis factor receptor-associated periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome tumour necrosis factor receptor 1 associated periodic syndrome tumour necrosis factor receptor 1-associated periodic syndrome tumour necrosis factor receptor-associated periodic syndrome TNF receptor 1-associated periodic fever syndrome hydrocephalus, cardiac malformation, dense bone syndrome lethal hydrocephalus-cardiac malformation-dense bones syndrome Beemer-Ertbruggen syndrome aire autoimmune polyendocrinopathy apeced - autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy apeced syndrome aps i aps type 1 aps1 autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome autoimmune polyendocrine syndrome type 1 autoimmune polyendocrinopathy caused by mutation in aire autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia autoimmune polyendocrinopathy syndrome, type i autoimmune polyendocrinopathy, candidosis and ectodermal dystrophy autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome autoimmune polyglandular syndrome i candidiasis-endocrinopathy syndrome ham syndrome hypoadrenocorticism, hypoparathyroidism and superficial moniliasis hypoparathyroidism, addison's disease and moniliasis hypoparathyroidism-addison disease-mucocutaneous candidiasis syndrome juvenile familial endocrinopathy medac syndrome multiple endocrine deficiency-addison disease-candidiasis syndrome pga i polyglandular autoimmune syndrome - type 1 polyglandular autoimmune syndrome type 1 polyglandular deficiency associated with mucocutaneous candidiasis type 1 polyendocrine autoimmunity syndrome whitaker syndrom Polyglandular autoimmune syndrome, type 1 Melanoma and neural system tumor syndrome oa1 - x-linked ocular albinism ocular albinism, nettleship-falls type ocular albinism, type i, nettleship-falls type x linked ocular albinism x-linked ocular albinism, nettleship type x-linked recessive ocular albinism xloa Ocular albinism, type I amyloid nephropathy with deafness and urticaria muckle-wells type amyloidosis neutrophilic urticaria Familial amyloid nephropathy with urticaria AND deafness LHON plus disease Leber plus disease familial multiple discoid fibroma familial multiple trichodiscoma fmdf Familial multiple discoid fibromas adamantiades-behcet disease bechet syndrome behet's syndrome behçet disease behçet's syndrome behçet-adamantiades syndrome morbus behçet's syndrome silk road disease triple symptom complex Behcet disease arcl1 autosomal recessive cutis laxa with severe systemic involvement autosomal recessive cutis laxa, pulmonary emphysema type cutis laxa, recessive, type i Autosomal recessive cutis laxa type 1 acrp syndrome syndactyly with preaxial polydactyly and sternal deformity syndrome syndactyly-preaxial polydactyly-sternal deformity syndrome Acropectoral syndrome adducted thumb, clubfoot, progressive joint and skin laxity syndrome adducted thumb-clubfoot syndrome adducted thumbs, arthrogryposis syndrome, dundar type adducted thumbs-arthrogryposis syndrome, dundar type atcs chst14-related eds chst14-related ehlers-danlos syndrome d4st1-deficient eds d4st1-deficient ehlers-danlos syndrome distal arthrogryposis with peculiar facies and hydronephrosis dündar syndrome eds, arthrogryposic type eds, kosho type eds, musculocontractural type ehlers-danlos syndrome arthrogryposic type ehlers-danlos syndrome kosho type ehlers-danlos syndrome musculocontractural type ehlers-danlos syndrome, arthrogryposic type ehlers-danlos syndrome, kosho type mceds musculocontractural ehlers-danlos syndrome Ehlers-Danlos syndrome, musculocontractural type digital fibrous tumour of reye inclusion body fibromatosis (disease) infantile digital fibroma infantile digital myofibroblastoma recurring digital fibrous tumor of childhood recurring digital fibrous tumour of childhood reye tumour reye's tumour Infantile digital fibromatosis familial nonmedullary primary thyroid carcinoma familial pure nonmedullary thyroid carcinoma fnmtc fnmtc - familial nonmedullary thyroid carcinoma Familial papillary or follicular thyroid carcinoma MASS phenotype Mass syndrome Abortive cerebellar ataxia Radiation-induced meningioma african iron overload bantu siderosis iron overload in africa African nutritional hemochromatosis fgfr3-related thanatophoric dysplasia td td - thanatophoric dwarfism thanatophoric dwarf thanatophoric dwarfism thanatophoric dwarfism syndrome thanatophoric short stature Thanatophoric dysplasia familial white folded mucosal dysplasia hereditary leukokeratosis of mucosa hereditary oral keratosis hereditary white sponge nevus white sponge nevus of mucosa White sponge nevus craniocervical region squamous cell carcinoma hnscc scchn squamous cell carcinoma, head and neck, somatic squamous cell carcinomas of head and neck Squamous cell carcinoma of the head and neck eds v ehlers-danlos syndrome type 5 ehlers-danlos syndrome type v ehlers-danlos syndrome, x-linked x-linked eds X-linked Ehlers-Danlos syndrome classical-like eds type 1 classical-like ehlers-danlos syndrome type 1 cleds type 1 eds, classic-like type edscll1 ehlers-danlos syndrome classic-like type ehlers-danlos syndrome, classic-like type ehlers-danlos syndrome, classic-like, 1 Ehlers-danlos syndrome due to tenascin-x deficiency eds x ehlers-danlos syndrome type 10 ehlers-danlos syndrome type 10 (formerly) ehlers-danlos syndrome with platelet dysfunction from fibronectin abnormality ehlers-danlos syndrome, fibronectin-deficient ehlers-danlos syndrome, type x Ehlers-Danlos syndrome, fibronectinemic type acrorenal defect-ectodermal dysplasia-diabetes syndrome aredyld syndrome Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes DMJDS1 microcephaly with spastic quadriplegia Diencephalic-mesencephalic junction dysplasia syndrome 1 keratoderma with scleroatrophy of extremities palmoplantar hyperkeratosis sclerodactyly syndrome palmoplantar hyperkeratosis-sclerodactyly syndrome palmoplantar keratoderma sclerodactyly syndrome palmoplantar keratoderma-sclerodactyly syndrome scleroatrophic syndrome Keratoderma with scleroatrophy of the extremities intellectual disability, x-linked syndromic 5 mrx59 mrxs21 pettigrew syndrome, x-linked recessive syndromic x-linked intellectual disability 21 syndromic x-linked intellectual disability 5 syndromic x-linked intellectual disability fried type syndromic x-linked intellectual disability type 5 x-linked dandy-walker malformation with intellectual disability, basal ganglia disease and seizure syndrome x-linked intellectual disability 59 x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behaviour syndrome x-linked metal retardation with dandy-walker malformation, basal ganglia disease, and seizures Pettigrew syndrome arthrogryposis, x-linked, type i smax2 spinal muscular atrophy with arthrogryposis spinal muscular atrophy, x-linked 2, infantile, x-linked recessive spinal muscular atrophy, x-linked infantile spinal muscular atrophy, x-linked type 2 x-linked distal arthrogryposis multiplex congenita x-linked spinal muscular atrophy type 2 Infantile-onset x-linked spinal muscular atrophy Diffuse panbronchiolitis hellp hellp - syndrome of hemolysis, elevated liver enzymes and low platelet hemolysis, elevated liver enzymes, low platelets in pregnancy hemolysis-elevated liver enzymes-low platelet count syndrome hemolysis-elevated liver enzymes-low platelets syndrome HELLP syndrome macrodactyly of hand Macrodactyly of fingers benallegue-lacete syndrome cloverleaf skull, asphyxiating thoracic dysplasia syndrome Cloverleaf skull-asphyxiating thoracic dysplasia syndrome aapc afap attenuated familial polyposis coli attenuated fap hfas Attenuated familial adenomatous polyposis hereditary colorectal cancer Familial colorectal cancer Eosinophilic pustular folliculitis autonomic control, congenital failure of cchs cchs1 central congenital hypoventilation syndrome central hypoventilation syndrome, congenital, 1 central hypoventilation syndrome, congenital, 1, with or without hirschsprung congenital central alveolar hypoventilation syndrome congenital central hypoventilation congenital central hypoventilation syndrome congenital ondine curse ondine curse ondine curse, congenital ondine syndrome Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 46, xy disorder of sex development (dsd) 46,xy disorders of sex development 46,xy dsd 46,XY disorder of sex development encephalopathy due to urocanase deficiency high urine urocanic acid levels urocanate hydratase deficiency urocanic aciduria (disease) Urocanic aciduria Mesulam syndrome PPA Primary progressive aphasia cdp chondrodysplasia calcificans congenita chondrodysplasia punctata (stippled epiphyses) group chondrodysplasia punctata congenita chondrodysplasia punctata, unclassified Chondrodysplasia punctata hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria primary renal tubular hypokalemic hypomagnesemia with hypocalciuria Gitelman syndrome congenital facial diplegia facial-limb disruptive spectrum hypoglossia-hypodactyly syndrome mbs moebius congenital oculofacial paralysis moebius sequence moebius syndrome, isolated cases Oromandibular-limb hypogenesis spectrum dpr - dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis infantile convulsion and choreoathetosis syndrome paroxysmal kinesigenic dyskinesia and infantile convulsion paroxysmal kinesigenic dyskinesia and infantile convulsions pkd/ic Infantile convulsions and choreoathetosis dense deposit disease / membranoproliferative glomerulonephritis type ii mcgn (mesangiocapillary glomerulonephritis) type ii membranoproliferative glomerulonephritis type 2 mesangiocapillary glomerulonephritis type 2 mpgnii - membranoproliferative glomerulonephritis type ii Mesangiocapillary glomerulonephritis, type II Wilms tumor 2, autosomal dominant, somatic mutation Wilms tumor type 2 Wilms tumour 2, autosomal dominant, somatic mutation Wilms tumour type 2 Wilms tumor 2 Benign familial neonatal-infantile seizures 1 bird-headed dwarf bird-headed dwarf of seckel harper's syndrome nanocephalic dwarf sckl virchow-seckel dwarfism Seckel syndrome pot pot - primary orthostatic tremor Primary orthostatic tremor Situs inversus totalis with cystic dysplasia of kidneys and pancreas benign familial infantile convulsion bfic bfie bfis seizures, benign familial infantile selfie - self-limited familial infantile epilepsy Benign familial infantile epilepsy sreat sreat - steroid-responsive encephalopathy associated with autoimmune thyroiditis Steroid-responsive encephalopathy associated with autoimmune thyroiditis autosomal recessive limb girdle muscular dystrophy type 2f autosomal recessive limb-girdle muscular dystrophy caused by mutation in sgcd delta-sarcoglycan-related lgmd r6 delta-sarcoglycan-related limb-girdle muscular dystrophy r6 lgmd due to delta-sarcoglycan deficiency lgmd type 2f lgmd2f lgmdr6 limb girdle muscular dystrophy due to delta-sarcoglycan deficiency limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency muscular dystrophy, limb-girdle, autosomal recessive 6 sgcd autosomal recessive limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2f autosomal recessive limb girdle muscular dystrophy type 2b autosomal recessive limb-girdle muscular dystrophy caused by mutation in dysf dysf autosomal recessive limb-girdle muscular dystrophy dysferlin-related lgmd r2 dysferlin-related limb-girdle muscular dystrophy r2 lgmd due to dysferlin deficiency lgmd type 2b lgmd2b lgmd3 limb girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy due to dysferlin deficiency limb-girdle muscular dystrophy type 3 muscular dystrophy, limb-girdle, autosomal recessive 2 Autosomal recessive limb-girdle muscular dystrophy type 2b Myasthenia, limb-girdle, autoimmune diffuse uveitis inflammation of the whole uveal tract panuveitis (disease) total uveitis Panuveitis PARK3 Parkinson disease 3 Parkinson disease 3, autosomal dominant Isolated hereditary congenital facial paralysis Calabro syndrome cantu syndrome cantu's syndrome cantú syndrome congenital hypertrichosis-acromegaloid facial features spectrum congenital hypertrichosis-coarse facial features spectrum hypertrichotic osteochondrodysplasia (cantu syndrome) Hypertrichotic osteochondrodysplasia Cantu type cardiocranial syndrome pfeiffer type craniosynostosis with congenital heart disease and intellectual disability syndrome craniosynostosis-congenital heart disease-intellectual disability syndrome pfeiffer-singer-zschiesche syndrome sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis Cardiocranial syndrome, pfeiffer type autosomal recessive distal spinal muscular atrophy type 1 autosomal recessive spinal muscular atrophy with respiratory distress dhmn6 diaphragmatic spinal muscular atrophy distal hereditary motor neuronopathy type vi distal hereditary motor neuropathy type 6 distal spinal muscular atrophy type 1 distal-hmn type 6 dsma1 ighmbp2 spinal muscular atrophy neuronopathy, distal hereditary motor, harding type vi neuropathy, distal hereditary motor, autosomal recessive 1 severe infantile axonal neuropathy with respiratory failure type 1 sianrf smard1 spinal muscular atrophy caused by mutation in ighmbp2 spinal muscular atrophy with respiratory distress spinal muscular atrophy with respiratory distress type 1 spinal muscular atrophy, distal, autosomal recessive, type 1 Autosomal recessive distal spinal muscular atrophy 1 enlargement of the inner surface of the frontal bone excessive growth of inner surface of the frontal bone hyperostosis of the internal surface of the frontal bone hypertrophy of the internal surface of the frontal bone increased ossification of the internal surface of the frontal bone morgagni-stewart-morel syndrome overgrowth of the inner surface of the frontal bone overgrowth of the inside of the frontal bone thick inner surface of the frontal bone thick internal surface of the frontal bone Hyperostosis interna frontalis aved familial isolated deficiency of vitamin type e familial isolated vitamin e deficiency friedreich ataxia phenotype with selective vitamin e deficiency friedreich-like ataxia isolated vitamin e deficiency Familial isolated deficiency of vitamin E gant gastrointestinal stroma tumor gastrointestinal stroma tumour gastrointestinal stromal sarcoma gastrointestinal stromal tumor (gist) gastrointestinal stromal tumor, familial, isolated cases gastrointestinal stromal tumor, isolated cases gastrointestinal stromal tumor, somatic gastrointestinal stromal tumour gastrointestinal stromal tumour (gist) gi stroma tumor gi stroma tumour gist gist - gastrointestinal stromal tumor stromal tumor of gastrointestinal tract stromal tumour of gastrointestinal tract Gastrointestinal stromal tumor chudley mccullough syndrome Chudley-mccullough syndrome cryptorchidism, arachnodactyly, intellectual disability syndrome van benthem driessen hanveld syndrome van benthem-driessen-hanveld syndrome Cryptorchidism-arachnodactyly-intellectual disability syndrome AAE acquired C1 inhibitor deficiency acquired angioneurotic edema acquired angioneurotic oedema acquired bradykinine-induced angioedema acquired non histamine-induced angioedema Acquired angioedema amish microcephaly Amish lethal microcephaly cfa cryptogenic fibrosing alveolitis familial pulmonary fibrosis fibrocystic pulmonary dysplasia fibrosing alveolitis, cryptogenic idiopathic pulmonary fibrosis idiopathic pulmonary fibrosis, familial ild2 interstitial pneumonitis, usual ipf uip usual interstitial pneumonia Interstitial lung disease 2 progressive isolated segmental anhidrosis Harlequin syndrome drepanocythemia drepanocytosis haemoglobin s disease without crisis haemoglobin sc disease hb s disease hb sc disease hb-s/hb-c disease hb-ss disease without crisis hemoglobin s disease without crisis hemoglobin s-s disease hemoglobin sc disease hemoglobin ss hereditary hemoglobinopathy disorder homozygous for hemoglobin s scd sickle cell syndrome sickle cell-hemoglobin ss disease sickle-cell/hb-c disease without crisis sickling disorder due to haemoglobin s sickling disorder due to hemoglobin s Hb SS disease smcd - systemic mast cell disease Systemic mast cell disease aleukemic myelosis amm bone marrow fibrosis chronic idiopathic myelofibrosis cimf megakaryocytic myelosclerosis myelofibrosis as a result of myeloproliferative disease myelofibrosis with myeloid metaplasia, somatic myelofibrosis, somatic myelosclerosis osteomyelofibrosis suspected idiopathic myelofibrosis Primary myelofibrosis glomus vagale paraganglioma glomus vagale tumor glomus vagale tumour vagal nerve tumors vagal nerve tumours Vagus nerve paraganglioma melanoma (disease) of uvea melanoma, uveal, malignant uvea melanoma uvea melanoma (disease) Uveal melanoma good syndrome good's syndrome thymoma with hypogammaglobulinemia thymoma-immunodeficiency thymoma-immunodeficiency syndrome Immunodeficiency with thymoma halal syndrome microcephalus cleft palate syndrome microcephaly cleft palate syndrome Microcephaly-cleft palate syndrome ak2 deficiency congenital aleukocytosis de vaal disease generalised haematopoietic hypoplasia generalized hematopoietic hypoplasia scid - severe combined immunodeficiency, neutropenia and thrombocytopenia scid with leukopenia severe combined immunodeficiency with leukopenia severe combined immunodeficiency, neutropenia and thrombocytopenia Reticular dysgenesis krukenberg tumour krukenberg's tumor Krukenberg carcinoma acute haemorrhagic leucoencephalitis of weston hurst acute hemorrhagic encephalomyelitis acute hemorrhagic leukoencephalitis of weston hurst acute necrotizing hemorrhagic leukoencephalitis hurst's disease weston-hurst syndrome Acute hemorrhagic leukoencephalitis berger's disease berger's iga or igg nephropathy igan - iga nephropathy immunoglobulin a nephropathy nephritis, iga type non rare in europe: berger disease primary iga nephropathy segmental glomerulonephritis IgA glomerulonephritis acute leukaemia of indeterminate lineage hybrid acute leukaemia hybrid acute leukemia mixed lineage acute leukaemia mixed lineage acute leukemia Acute leukemia of ambiguous lineage acute disseminated encephalitis adem adem - acute disseminated encephalomyelitis post-infectious encephalomyelitis Acute disseminated encephalomyelitis aaoor - acute annular occult outer retinopathy acute annular occult outer retinopathy acute local occult outer retinopathy azoor azoor - acute zonal occult outer retinopathy Acute zonal occult outer retinopathy ACDMPV alveolar capillary dysplasia alveolar capillary dysplasia with misalignment of pulmonary vessels congenital alveolar capillary dysplasia congenital alveolar capillary dysplasia with misalignment of pulmonary veins fetal circulation foetal circulation Alveolar capillary dysplasia with misalignment of pulmonary veins DIG Desmoplastic infantile ganglioglioma UES embryonal sarcoma embryonal sarcoma (undifferentiated sarcoma) embryonal sarcoma, undifferentiated sarcoma, undifferentiated, malignant undifferentiated sarcoma Undifferentiated (embryonal) sarcoma eed - erythema elevatum diutinum Erythema elevatum diutinum tympanic nerve tumor tympanic nerve tumors tympanic nerve tumour tympanic nerve tumours Tympanic paraganglioma congenital longitudinal deficiency of the fibula fibular longitudinal meromelia longitudinal deficiency of fibula longitudinal reduction defect of fibula Fibular hemimelia aphasia-angular gyrus syndrome gerstmann's syndrome Gerstmann syndrome laparoschisis Gastroschisis Auriculoosteodysplasia partial deletion of chromosome 1q partial deletion of the long arm of chromosome 1 partial deletion of the long arm of chromosome type 1 partial monosomy of chromosome 1q partial monosomy of the long arm of chromosome 1 Chromosome 1q deletion berylliosis beryllium granuloma beryllium poisoning chronic berylliosis chronic beryllium lung chronic beryllium lung disease chronic beryllium poisoning Chronic beryllium disease 9Q subtelomeric deletion syndrome 9Q- syndrome 9q-syndrome 9q34 deletion syndrome 9q34.3 microdeletion syndrome chromosome 9Q34.3 deletion syndrome chromosome 9q deletion syndrome Kleefstra syndrome Weber-Gubler syndrome Weber syndrome arias syndrome bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 bilirubin-ugt deficiency type 2 crigler-najjar syndrome type 2 crigler-najjar syndrome type ii crigler-najjar type 2 hereditary unconjugated hyperbilirubinemia type 2 hyperbilirubinemia, crigler-najjar type ii mutation in the udp-glucuronosyl-transferase gene ugt deficiency type 2 Crigler-Najjar syndrome, type II ALPS ALPS (autoimmune lymphoproliferative syndrome) Canale-Smith syndrome FAS deficiency Autoimmune lymphoproliferative syndrome immune-mediated protracted diarrhea of infancy immune-mediated protracted diarrhoea of infancy severe immune-mediated enteropathy Autoimmune enteropathy beta-mannosidase deficiency mannosidosis, beta Beta-D-mannosidosis bordetella pertussis caused disease or disorder bordetella pertussis disease or disorder bordetella pertussis infection bordetella pertussis infectious disease wc - whooping cough Pertussis adair-dighton syndrome classic non-deforming osteogenesis imperfecta with blue sclerae col1a1-related osteogenesis imperfecta lobstein's disease mild osteogenesis imperfecta non-deforming osteogenesis imperfecta oi type 1 oi, type i oi1 van de hoeve syndrome van der hoeve syndrome Osteogenesis imperfecta type 1 oi type 3 progressive deforming osteogenesis imperfecta progressively deforming osteogenesis imperfecta progressively deforming osteogenesis imperfecta with normal sclera severe osteogenesis imperfecta Osteogenesis imperfecta type 3 common variable osteogenesis imperfecta with normal sclerae oi type 4 oi4 osteogenesis imperfecta type 4 osteogenesis imperfecta with normal sclera osteogenesis imperfecta, type iv, with dentinogenesis imperfecta Osteogenesis imperfecta with normal sclerae, dominant form gdd gnathodiaphyseal dysplasia syndrome Gnathodiaphyseal dysplasia IFITM5 osteogenesis imperfecta OI type 5 OI5 osteogenesis imperfecta caused by mutation in IFITM5 osteogenesis imperfecta type V Osteogenesis imperfecta type 5 lenz microphthalmia lenz microphthamia syndrome microphthalmia, lenz type Lenz microphthalmia syndrome oi6 osteogenesis imperfecta caused by mutation in serpinf1 osteogenesis imperfecta type vi serpinf1 osteogenesis imperfecta serpinf1-related osteogenesis imperfecta Osteogenesis imperfecta type 6 crtap osteogenesis imperfecta crtap-related osteogenesis imperfecta oi type 2b oi type iib oi7 osteogenesis imperfecta caused by mutation in crtap osteogenesis imperfecta type 2b osteogenesis imperfecta type vii osteogenesis imperfecta, perinatal lethal autosomal recessive Osteogenesis imperfecta type 7 ahus ahus - atypical hemolytic uremic syndrome atypical hus d-hus hemolytic-uremic syndrome without diarrhea hemolytic-uremic syndrome without diarrhoea non-diarrhea-associated hemolytic uremic syndrome Atypical hemolytic-uremic syndrome idiopathic angiitis of central nervous system isolated angiitis of the central nervous system pacns pacns - primary angiitis of central nervous system pcnsv primary angiitis of central nervous system primary angiitis of the central nervous system primary vasculitis of the central nervous system Primary central nervous system vasculitis Benign angiitis of the central nervous system agenesis of tibia congenital absence of tibia congenital aplasia and dysplasia of the tibia with intact fibula congenital longitudinal deficiency of the tibia tibial longitudinal meromelia Tibial hemimelia absent or hypoplastic patellae absent/hypoplastic patella absent/small kneecap absent/underdeveloped kneecap aplasia/hypoplasia of the patella aplastic or hypoplastic patellae hypoplastic or absent patella patella aplasia or hypoplasia patellar aplasia/hypoplasia ptlah small to absent patellae Patella aplasia/hypoplasia beta thalassemia syndrome beta-thalassemia bthal cooley's anemia mediterranean anemia Beta thalassemia chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome odcd Odontochondrodysplasia 1 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome 2-methyl-3-hydroxybutyricacidemia 3-methylhydroxybutyric acidemia 3-oxothiolase deficiency acetoacetyl-coa thiolase deficiency alpha methylacetoacetic aciduria alpha-methyl-acetoacetyl-coa thiolase deficiency alpha-methylacetoaceticaciduria bkt deficiency of acetoacetyl-coa thiolase deficiency of acetyl-coa acetyltransferase deficiency of acetyl-coenzyme a acetyltransferase ketothiolase deficiency mitochondrial 2-methylacetoacetyl-coa thiolase deficiency - potassium stimulated mitochondrial acetoacetyl-coenzyme a thiolase deficiency peroxisomal thiolase deficiency t2 deficiency Beta-ketothiolase deficiency Axial spondylometaphyseal dysplasia familial paroxysmal kinesigenic dyskinesia familial pkd paroxysmal kinesigenic choreathetosis paroxysmal kinesigenic choreoathetosis paroxysmal kinesigenic dyskinesia Episodic kinesigenic dyskinesia familial paroxysmal choreoathetosis mount-reback syndrome paroxystic non-kinesigenic choreoathetosis Paroxysmal nonkinesigenic dyskinesia 5Q minus syndrome 5q- syndrome 5q- syndrome, refractory macrocytic anaemia due to 5q deletion 5q- syndrome, refractory macrocytic anemia due to 5q deletion chromosome 5q deletion syndrome macrocytic anemia, refractory, due to 5q deletion, somatic myelodysplastic syndrome associated with isolated del (5q) chromosome Abnormality myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality myelodysplastic syndrome with 5q deletion myelodysplastic syndrome with isolated del(5q) Myelodysplastic syndrome associated with isolated del(5q) late neurosyphilis syphilis of central nervous system tertiary neurosyphilis Neurosyphilis Bethlem myopathy type 1 benign autosomal dominant myopathy benign congenital muscular dystrophy Bethlem myopathy posterior spinal sclerosis syphilitic posterior spinal sclerosis tabes dorsalis - neurosyphilis tabetic neurosyphilis Tabes dorsalis Treponema caused infectious meningitis Treponema infectious meningitis Syphilitic meningitis christmas disease congenital f9 deficiency congenital factor ix deficiency congenital factor ix disorder deficiency, functional factor ix haemophilia b, x-linked recessive haemophilia type b hemophilia b, x-linked recessive hemophilia type b hereditary factor ix deficiency hereditary factor ix deficiency disease ptc deficiency disease sex-linked factor ix deficiency disease Hemophilia b idiopathic excessive sleepiness primary hypersomnia Idiopathic hypersomnia limbic encephalopathy Limbic encephalitis meckel syndrome caused by mutation in tmem216 meckel-gruber syndrome, type 2 mks2 mks2-related meckel syndrome tmem216 meckel syndrome tmem216-related meckel syndrome Meckel syndrome, type 2 meckel syndrome caused by mutation in tmem67 meckel-gruber syndrome, type 3 mks3 tmem67 meckel syndrome tmem67-related meckel syndrome Meckel syndrome, type 3 hem dysplasia hydrops-ectopic calcification-motheaten syndrome skeletal dysplasia, Greenberg type Greenberg dysplasia bosma arhinia microphthalmia syndrome Arrhinia-choanal atresia-microphthalmia syndrome arts arts syndrome and phosphoribosylpyrophosphate synthetase superactivity arts syndrome, x-linked recessive fatal x-linked ataxia with deafness and loss of vision lethal ataxia with deafness and optic atrophy lethal ataxia with hearing loss and optic atrophy mrxs18 mrxsarts syndromic x-linked intellectual disability 18 syndromic x-linked intellectual disability arts type Arts syndrome childhood pulmonary blastoma paediatric pulmonary blastoma pediatric pulmonary blastoma pleuro-pulmonary blastoma pleuropulmonary blastoma (morphologic abnormality) Pleuropulmonary blastoma cicatricial pemphigoid with ocular involvement ocp - ocular cicatricial pemphigoid ocular pemphigoid Ocular cicatricial pemphigoid Keshan disease leri pleonosteosis chromosome duplication syndrome Leri pleonosteosis hypogonadism-short stature-coloboma-preaxial polydactyly syndrome Biemond syndrome type 2 bifid nasal bridge cleft nasal bridge cleft nose indentation or clefting of the nose indented bridge of nose Bifid nose non-hodgkin lymphoma of stomach stomach non-hodgkin lymphoma Gastric non-hodgkin lymphoma bindewald-ulmer-müller syndrome fallot complex with intellectual disability and growth delay syndrome Fallot complex-intellectual disability-growth delay syndrome btd deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency late-onset multiple carboxylase deficiency multiple carboxylase deficiency - late onset Biotinidase deficiency bird-headed dwarfism montreal type microcephalic primordial dwarfism montreal type Bird headed-dwarfism, Montreal type bixler christian gorlin syndrome bixler syndrome bixler-christian-gorlin syndrome hmc (hypertelorism, microtia, clefting) syndrome hmc syndrome hypertelorism with microtia and facial clefting syndrome hypertelorism-microtia-clefting syndrome hypertelorism-microtia-facial clefting syndrome Hypertelorism, microtia, facial clefting syndrome Frydman-Cohen-Karmon syndrome Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome childhood melanoma (disease) melanoma (disease) of childhood paediatric melanoma (disease) pediatric melanoma (disease) Childhood malignant melanoma congenital fanconi syndrome de toni-fanconi-debre syndrome detoni-debré-fanconi syndrome primary fanconi renal syndrome primary toni-debre-fanconi syndrome renal fanconi syndrome renal tubular fanconi syndrome Primary Fanconi syndrome agenesis of lung aplasia of lung apulmonism congenital absence of lung congenital aplasia of lung Pulmonary agenesis Blepharoptosis-myopia-ectopia lentis syndrome franceschetti klein syndrome franceschetti syndrome franceschetti-klein syndrome mandibulofacial dysostosis without limb anomalies treacher collins-franceschetti syndrome Treacher-Collins syndrome polr1c treacher-collins syndrome polr1c-related treacher collins syndrome treacher collins syndrome type 3 treacher-collins syndrome caused by mutation in polr1c Treacher collins syndrome 3 agnathia-holoprosencephaly-situs inversus syndrome holoprosencephaly-agnathia otocephalic syndrome otocephalus Agnathia-otocephaly complex idiopathic inflammatory myopathies iim imm Acquired idiopathic inflammatory myopathy Infectious myositis Congenital myotonic dystrophy CMD MDC Congenital muscular dystrophy blc blomstrand chondrodysplasia blomstrand lethal chondrodysplasia blomstrand osteochondrodysplasia bocd chondrodysplasia, blomstrand type Chondrodysplasia Blomstrand type ege eosinophilic enteritis eosinophilic enteropathy eosinophilic gastroenterocolitis eosinophilic gastroenteropathy eosinophilic gastrointestinal disorders gastrointestinal eosinophilia gi eosinophilia Eosinophilic gastroenteritis Retinoschisis of fovea autosomal dominant retinoschisis Retinoschisis, autosomal dominant autosomal dominant pha 1 autosomal dominant pha1 pha1a pseudohypoaldosteronism type i, autosomal dominant pseudohypoaldosteronism, type i, dominant Autosomal dominant pseudohypoaldosteronism type 1 cardio-facial-cutaneous syndrome cfc cfc syndrome Cardiofaciocutaneous syndrome light negative glomerulonephritis lipid nephrosis mcd - minimal change disease mcgn - minimal change glomerulonephritis mcn - minimal change nephropathy minimal change nephropathy nil disease Lipoid nephrosis Pelger-Huët anomaly bloom-torre-machacek syndrome bs - bloom syndrome bsyn Bloom syndrome 3 beta-hsd deficiency 3-beta hsd deficiency 3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia cah - 3 beta-dehydrogenase deficiency cah due to 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia, type 4 3 beta-Hydroxysteroid dehydrogenase deficiency intellectual disability, x-linked syndromic 7 mrxs7 syndromic x-linked intellectual disability type 7 x-linked intellectual disability ahmad type x-linked intellectual disability, ahmad type Syndromic x-linked intellectual disability 7 MRXSAB intellectual disability, X-linked syndromic, Abidi type Syndromic X-linked intellectual disability Abidi type Brody myopathy 46,xy sex reversal type 2 46xy sex reversal 2, dosage-sensitive nr0b1-related 46,xy cgd nr0b1-related 46,xy complete gonadal dysgenesis 46,xy sex reversal 2 familial infantile type osteochondrosis deformans tibiae infantile tibia vara juvenile osteochondrosis of proximal tibia osteochondrosis deformans tibiae tibia vara blount Tibia vara adult-onset alpha-n-acetylgalactosaminidase deficiency alpha-n-acetylgalactosaminidase deficiency, type ii naga (alpha-n-acetylgalactosaminidase) deficiency type 2 naga deficiency type 2 naga deficiency, type ii schindler disease type 2 schindler disease, type ii Alpha-n-acetylgalactosaminidase deficiency type 2 rfmn spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome Roifman syndrome autosomal dominant limb-girdle muscular dystrophy caused by mutation in cav3 cav3 rippling muscle disease cav3-related rippling muscle disease limb-girdle muscular dystrophy, type 1c rippling muscle disease caused by mutation in cav3 rippling muscle disease type 2 rmd2 Rippling muscle disease 2 RMD1 rippling muscle disease-1 Rippling muscle disease 1 Autosomal dominant nonsyndromic hearing loss 24 dfna22 nonsyndromic hearing loss and deafness Autosomal dominant nonsyndromic hearing loss 22 hereditary expansile polyostotic osteolytic dysplasia Familial expansile osteolysis cerebral amyloid angiopathy, itm2b-related, type 2 familial danish dementia familial dementia danish type familial dementia, danish type fdd heredopathia ophthalmootoencephalica hooe ADan amyloidosis atypical x-linked achromatopsia blue cone monochromacy blue cone monochromacy, x-linked recessive blue cone monochromatism blue-mono-cone-monochromatic type colorblindness color blindness, blue monocone monochromatic type colour blindness, blue monocone monochromatic type incomplete achromatopsia s cone monochromacy s cone monochromatism s-cone monochromacy x-linked incomplete achromatopsia Cone monochromatism Hypotrichosis simplex Iris hypoplasia with glaucoma keratoderma, palmoplantar, striate form i keratosis palmoplantaris striata i keratosis palmoplantaris striata i, ad palmoplantar keratoderma i, focal palmoplantar keratoderma i, striate or diffuse striate palmoplantar keratoderma i Palmoplantar keratoderma i, striate, focal, or diffuse keratoderma, palmoplantar, striate form iii keratosis palmoplantaris striata type 3 krt1 striate palmoplantar keratoderma striate palmoplantar keratoderma caused by mutation in krt1 striate palmoplantar keratoderma iii Keratosis palmoplantaris striata 3 autosomal recessive juvenile onset parkinson disease 9 autosomal recessive parkinson disease 9 kufor rakeb syndrome park9 park9 - parkinson disease 9 Kufor-rakeb syndrome autosomal recessive early-onset parkinson disease 15 autosomal recessive early-onset parkinson disease type 15 pallidopyramidal syndrome parkinson disease 15, autosomal recessive parkinsonian pyramidal syndrome Parkinsonian-pyramidal syndrome familial recurrent arthritis fra papa papa (pyogenic arthritis, pyoderma gangrenosum, acne) syndrome papa syndrome pyogenic arthritis, pyoderma gangrenosum, acne syndrome Pyogenic arthritis-pyoderma gangrenosum-acne syndrome erbb3 lethal congenital contracture syndrome lccs2 lethal congenital contractural syndrome 2 lethal congenital contracture syndrome caused by mutation in erbb3 lethal congenital contracture syndrome type 2 multiple contracture syndrome israeli-bedouin type multiple contracture syndrome, israeli-bedouin type Lethal congenital contracture syndrome 2 intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome intellectual disability, x-linked, syndromic 20 intellectual disability, x-linked, syndromic 25 intellectual disability, x-linked, syndromic, borck type mehmo mehmo (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity) syndrome mehmo syndrome, x-linked recessive mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome mrxs20 mrxs25 mrxsbrk syndromic x-linked intellectual disability 20 syndromic x-linked intellectual disability 25 x-linked intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, obesity syndrome x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome Mehmo syndrome CAPE dystrophy MCDR1 NCMD North Carolina macular dystrophy, retinal 1 caped central areolar pigment epithelial dystrophy central retinal pigment epithelial dystrophy macular dystrophy 1, North Carolina type progressive foveal dystrophy North carolina macular dystrophy bod (brachymorphism, onychodysplasia, dysphalangism) syndrome bod syndrome brachymorphism with onychodysplasia and dysphalangism syndrome senior syndrome Brachymorphism-onychodysplasia-dysphalangism syndrome primary membranous glomerulonephritis primary membranous nephropathy Idiopathic membranous glomerulonephritis aneurysm, abdominal aortic aortic aneurysm, familial abdominal hereditary abdominal aortic aneurysm Familial abdominal aortic aneurysm acro-renal-ocular syndrome acrorenocular syndrome acrorenoocular syndrome dr syndrome drrs drrs - duane-radial ray syndrome duane anomaly with radial ray abnormalities and deafness duane-radial ray syndrome/okihiro syndrome okihiro syndrome Duane-radial ray syndrome pprd spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome Progressive pseudorheumatoid arthropathy of childhood charcot-marie-tooth disease type 1 caused by mutation in egr2 charcot-marie-tooth disease type id charcot-marie-tooth disease, type 1d charcot-marie-tooth neuropathy type 1d cmt1d egr2 charcot-marie-tooth disease type 1 hereditary motor and sensory neuropathy 1d hmsn id hmsn1d Charcot-Marie-Tooth disease type 1D autosomal dominant charcot-marie-tooth neuropathy and deafness charcot-marie-tooth disease and deafness charcot-marie-tooth disease demyelinating type 1e charcot-marie-tooth disease, type 1e charcot-marie-tooth disease-deafness charcot-marie-tooth disease-deafness syndrome charcot-marie-tooth disease-hearing loss syndrome charcot-marie-tooth neuropathy type 1e cmt1e Charcot-Marie-Tooth disease type 1E charcot-marie-tooth disease type 1 caused by mutation in nefl charcot-marie-tooth disease type if charcot-marie-tooth disease, type 1f charcot-marie-tooth neuropathy type 1f charcot-marie-tooth neuropathy type 1f/2e cmt1f nefl charcot-marie-tooth disease type 1 Charcot-Marie-Tooth disease type 1F autosomal dominant charcot-marie-tooth disease type 2b charcot-marie-tooth disease type 2 caused by mutation in rab7a charcot-marie-tooth disease, type 2b charcot-marie-tooth neuropathy type 2b cmt2b hereditary motor and sensory neuropathy iib hereditary motor and sensory nueropathy iib hmsn iib hmsn2b rab7a charcot-marie-tooth disease type 2 Charcot-Marie-Tooth disease type 2B CMT2E Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL Charcot-Marie-Tooth disease, type 2E Charcot-Marie-Tooth neuropathy type 2E NEFL Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease type 2E CMT2F Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1 Charcot-Marie-Tooth neuronal type 2F Charcot-Marie-Tooth neuropathy type 2F HSPB1 Charcot-Marie-Tooth disease type 2 autosomal dominant Charcot-Marie-Tooth disease type 2F Charcot-Marie-Tooth disease axonal type 2F AR-CMT2C CMT2H Charcot-Marie-Tooth disease type 2H autosomal recessive axonal CMT4C2 autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features axonal Charcot-Marie-Tooth disease with pyramidal involvement Charcot-Marie-Tooth disease axonal type 2H CMT2I Charcot-Marie-Tooth disease, type 2I Charcot-Marie-Tooth neuropathy type 2I Charcot-Marie-Tooth disease type 2I CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities Charcot-Marie-Tooth disease, type 2J Charcot-Marie-Tooth neuropathy type 2J Charcot-Marie-Tooth disease type 2J acroerythrokeratoderma keratosis palmoplantaris transgrediens of siemens meleda disease palmoplantar keratoderma, gamborg nielsen type palmoplantar keratoderma, norrbotten recessive type transgrediens palmoplantar keratoderma of siemens Mal de meleda autosomal recessive charcot-marie-tooth disease with focally folded myelin sheaths type 4b2 charcot-marie-tooth disease type 4 caused by mutation in sbf2 charcot-marie-tooth disease, demyelinating, type 4b2 charcot-marie-tooth neuropathy type 4b2 charcot-marie-tooth neuropathy type 4b2 (cmt4b2) cmt4b2 sbf2 charcot-marie-tooth disease type 4 Charcot-Marie-Tooth disease type 4B2 autosomal recessive demyelinating charcot-marie-tooth disease type 4c charcot-marie-tooth disease type 4 caused by mutation in sh3tc2 charcot-marie-tooth disease, demyelinating, type 4c charcot-marie-tooth neuropathy type 4c charcot-marie-tooth neuropathy type 4c (cmt4c) cmt4c sh3tc2 charcot-marie-tooth disease type 4 Charcot-Marie-Tooth disease type 4C autosomal recessive congenital hypomyelinating neuropathy autosomal recessive congenital hypomyelinating or amyelinating neuropathy charcot-marie-tooth disease, demyelinating, type 4e charcot-marie-tooth neuropathy type 4e cmt4e congenital hypomyelinating neuropathy 1, autosomal recessive congenital hypomyelination hypomyelinating neuropathy, congenital, 1 neuropathy, congenital hypomyelinating, 1 neuropathy, congenital hypomyelination Charcot-Marie-Tooth disease type 4E charcot-marie-tooth disease type 3 cmt3 dejerine-sottas syndrome déjérine-sottas disease hereditary hypertrophic neuropathy hereditary motor and sensory neuropathy type 3 hereditary motor and sensory neuropathy, type iii hereditary sensory-motor neuropathy, type iii hmsn 3 hmsn iii hmsn type iii hmsn3 hsmn iii hypertrophic demyelinative neuropathy of infancy hypertrophic hereditary neuropathy progressive hypertrophic interstitial neuropathy Dejerine-Sottas disease CMTDIF Charcot-Marie-Tooth disease dominant intermediate type F Charcot-Marie-Tooth disease, dominant Intermediate type F autosomal dominant intermediate Charcot-Marie-Tooth disease type F Charcot-Marie-Tooth disease dominant intermediate F autosomal dominant intermediate charcot-marie-tooth disease type d charcot-marie-tooth disease caused by mutation in mpz charcot-marie-tooth disease dominant intermediate 3 charcot-marie-tooth disease dominant intermediate type d charcot-marie-tooth disease, dominant intermediate type d charcot-marie-tooth neuropathy dominant intermediate d cmt di3 cmtdid mpz charcot-marie-tooth disease Charcot-Marie-Tooth disease dominant intermediate D charcot-marie-tooth disease, pyramidal features syndrome charcot-marie-tooth disease-pyramidal features syndrome hereditary motor and sensory neuropathy type 5 hereditary motor and sensory neuropathy type v hereditary motor and sensory neuropathy with pyramidal features hereditary sensory-motor neuropathy type v hmsn 5 hmsn v Charcot-Marie-Tooth disease type 5 rogers syndrome thiamine metabolism dysfunction syndrome 1 thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type) thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia syndrome thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss thiamine-responsive myelodysplasia thmd1 trma Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness al awadi-raas-rothschild syndrome aplasia/hypoplasia of limbs and pelvis congenital absence of ulna and fibula phocomelia schinzel type phocomelia, schinzel type severe limb deficit Schinzel phocomelia syndrome Lymphedema-cerebral arteriovenous anomaly syndrome autosomal recessive lethal chondrodysplasia round femoral inferior epiphysis type autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type Bone dysplasia, lethal holmgren type nog gene-related symphalangism spectrum disorder Tarsal-carpal coalition syndrome absent kidney absent/small kidney absent/underdeveloped kidney congenital absence of the kidney hereditary renal aplasia hereditary urogenital adysplasia missing kidney renal adysplasia renal agenesis (disease) renal agenesis/hypoplasia renal aplasia Renal agenesis arnold chiari type 2 arnold-chiari malformation type 2 arnold-chiari malformation type ii arnold-chiari type ii malformation chiari malformation type 2 chiari malformation type ii Chiari type II malformation arnold chiari type 1 arnold chiari type i malformation arnold-chiari malformation type 1 arnold-chiari malformation type i arnold-chiari type i malformation chiari 1 malformation chiari i malformation chiari malformation type 1 chiari malformation type i Chiari type I malformation acute respiratory coronavirus infection sars sars coronavirus caused disease or disorder sars coronavirus disease or disorder sars coronavirus infectious disease sars-1 sars-cov infection Severe acute respiratory syndrome amyotrophic lateral sclerosis, parkinsonism, dementia complex amyotrophic lateral sclerosis, parkinsonism, dementia of guam syndrome amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome amyotrophic lateral sclerosis-parkinsonism/dementia complex type 1 g-pdc guam disease guam parkinsonism-dementia complex lytico bodig disease lytico-bodig disease lytigo-bodig disease parkinson-dementia complex of guam parkinsonism-dementia-als complex pdals pdals (parkinsonism, dementia, amyotrophic lateral sclerosis) complex Amyotrophic lateral sclerosis-parkinsonism-dementia complex childhood acute lymphocytic leukaemia childhood acute lymphocytic leukemia childhood acute lymphogenous leukaemia childhood acute lymphogenous leukemia childhood acute lymphoid leukaemia childhood acute lymphoid leukemia childhood precursor lymphoblastic leukaemia paediatric acute lymphoblastic leukaemia paediatric acute lymphocytic leukaemia paediatric acute lymphocytic leukaemia (all) paediatric acute lymphogenous leukaemia paediatric acute lymphoid leukaemia paediatric all pediatric acute lymphocytic leukemia pediatric acute lymphocytic leukemia (all) pediatric acute lymphogenous leukemia pediatric acute lymphoid leukemia Childhood acute lymphoblastic leukemia FASPS familial advanced sleep-phase syndrome Advanced sleep phase syndrome cin - cervical intraepithelial neoplasia Cervical intraepithelial neoplasia PEL body cavity-based lymphoma Primary effusion lymphoma acute tubulointerstitial nephritis and uveitis syndrome dobrin syndrome tinu - tubulointerstitial nephritis with uveitis syndrome tinu syndrome tubulointerstitial nephritis with uveitis syndrome Tubulointerstitial nephritis and uveitis syndrome absence of septum pellucidum absence of the septum pellucidum agenesis of the septum pellucidum congenital absence of septum pellucidum missing septum pellucidum Absent septum pellucidum Genetic developmental and epileptic encephalopathy cerebelloparenchymal disorder type 5 dyssynergia cerebellaris myoclonica myoclonus and ataxia progressive cerebellar tremor Myoclonic cerebellar dyssynergia short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing syndrome short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing sunct (short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing) syndrome sunct headache SUNCT syndrome classic glucose transporter type 1 deficiency syndrome classic glut1 deficiency syndrome classic glut1-ds de vivo disease glucose transporter type 1 deficiency glut-1 deficiency syndrome glut1 deficiency syndrome 1, infantile onset, severe glut1 deficiency syndrome type 1 glut1-ds Encephalopathy due to glut1 deficiency anaplastic carcinoma of the skin apudoma of skin carcinoma of merkel cell cutaneous apudoma mcc merkel cell cancer merkel cell cancer of the skin merkel cell skin cancer merkel cell tumor merkel cell tumour neuroendocrine carcinoma of skin neuroendocrine carcinoma of the skin neuroendocrine skin carcinoma neuroendocrine tumor of the skin neuroendocrine tumour of the skin primary cutaneous neuroendocrine carcinoma primary small cell carcinoma of the skin primary undifferentiated carcinoma of the skin trabecular cancer trabecular skin carcinoma Cutaneous neuroendocrine carcinoma familial lobular glomerulopathy gfnd1 Glomerulopathy with fibronectin deposits 1 ANSD auditory dys-synchrony auditory neuropathy spectrum disorder Auditory neuropathy anterior limiting membrane dystrophy type 2 anterior limiting membrane dystrophy type ii cdb type ii-corneal dystrophy of bowman's membrane, type ii corneal dystrophy honeycomb-shaped corneal dystrophy of bowman layer type 2 corneal dystrophy of bowman layer type ii curly fiber corneal dystrophy curly fibre corneal dystrophy honeycomb corneal dystrophy tbcd waardenburg-jonker corneal dystrophy Thiel-behnke corneal dystrophy anterior limiting membrane dystrophy type 1 anterior limiting membrane dystrophy type i atypical granular corneal dystrophy cdb type i corneal dystrophy corneal dystrophy of bowman layer type 1 corneal dystrophy of bowman layer type i geographic corneal dystrophy granular corneal dystrophy type 3 granular corneal dystrophy type iii granular corneal dystrophy, type iii rbcd reis-bucklers corneal dystrophy superficial granular corneal dystrophy Reis-Bucklers' corneal dystrophy corneal dystrophy crystalline of schnyder corneal dystrophy, schnyder type crystalline corneal dystrophy crystalline stromal dystrophy hereditary crystalline stromal dystrophy of schnyder sccd scd schnyder corneal dystrophy schnyder crystalline cornea dystrophy schnyder crystalline dystrophy sine crystals schnyder's crystalline corneal dystrophy Schnyder crystalline corneal dystrophy cgd2 combined granular-lattice corneal dystrophy gcd2 gcdii granular corneal dystrophy type 2 granular corneal dystrophy type ii granular corneal dystrophy, type ii granular-lattice corneal dystrophy Avellino corneal dystrophy deficiency of glutamate formiminotransferase deficiency of glutamate formyltransferase figluria formiminotransferase cyclodeaminase deficiency ftcd deficiency glutamate formiminotransferase deficiency Formiminoglutamic aciduria cholestasis with pigmentary retinopathy and cleft palate syndrome hdkr Cholestasis-pigmentary retinopathy-cleft palate syndrome b-k mole syndrome familial atypical mole syndrome familial atypical multiple mole melanoma-pancreatic carcinoma syndrome familial clark nevus syndrome familial dysplastic nevus syndrome famm-pc syndrome fammm syndrome Familial atypical multiple mole melanoma syndrome White platelet syndrome aoa1 aoa1 (ataxia oculomotor apraxia type 1) aptx oculomotor apraxia or related oculomotor disease ataxia oculomotor apraxia type 1 ataxia with oculomotor apraxia type 1 autosomal recessive ataxia with oculomotor apraxia type 1 autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 oculomotor apraxia or related oculomotor disease caused by mutation in aptx Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia acanthamoeba caused keratitis amoebic keratitis keratitis, acanthamoeba Acanthamoeba keratitis AO1 AOI atelosteogenesis type 1 giant cell chondrodysplasia spondylo-humero-femoral dysplasia Atelosteogenesis type i schimke syndrome X-linked intellectual disability, Schimke type baby rattle pelvic dysplasia Baby rattle pelvis dysplasia mcops10 microphthalmia with brain atrophy syndrome moba syndrome syndromic microphthalmia type 10 Microphthalmia-brain atrophy syndrome TS long QT syndrome-syndactyly syndrome Timothy syndrome td1 thanatophoric dwarfism type 1 thanatophoric dysplasia, type 1 Thanatophoric dysplasia type 1 SPG24 autosomal recessive spastic paraplegia 24 autosomal recessive spastic paraplegia type 24 hereditary spastic paraplegia type 24 Hereditary spastic paraplegia 24 myelokathexis, isolated warts, hypogammaglobulinemia, infections, and myelokathexis warts, hypogammaglobulinemia, infections, and myelokathexis syndrome warts-hypogammaglobulinemia-infections-myelokathexis syndrome warts-infections-leukopenia-myelokatexis syndrome whims whims1 wilm Whim syndrome 1 antiquitin deficiency epeo4 epilepsy, early-onset, 4, vitamin b6-dependent pyridoxine-dependent seizures vitamin b6-dependent seizures Pyridoxine-dependent epilepsy beaded hair congenital beaded hair moniliform hair syndrome Monilethrix cerebellum childhood astrocytic tumor cerebellum childhood astrocytic tumour cerebellum juvenile astrocytoma childhood astrocytic tumor of cerebellum childhood astrocytic tumour of cerebellum paediatric astrocytoma of cerebellum paediatric astrocytoma of the cerebellum paediatric cerebellar astrocytoma Childhood cerebellar astrocytic neoplasm childhood astrocytic tumor of telencephalon childhood astrocytic tumour of telencephalon paediatric astrocytoma of cerebrum paediatric astrocytoma of the cerebrum paediatric cerebral astrocytoma telencephalon childhood astrocytic tumor telencephalon childhood astrocytic tumour telencephalon juvenile astrocytoma Childhood cerebral astrocytoma adult primary cholangiocarcinoma adult primary cholangiocellular carcinoma cc cca cholangiocar.- intra/extrahepatic cholangiocarcinoma of biliary tract cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma) cholangiocarcinoma, malignant cholangiocellular carcinoma cholangiosarcoma Cholangiocarcinoma brain stem glioma of childhood paediatric brain stem glioma paediatric brainstem glioma paediatric glioma of brain stem paediatric glioma of brainstem paediatric glioma of the brain stem paediatric glioma of the brainstem Childhood brain stem glioma childhood optic tract glioma glioma of paediatric visual pathway glioma of the paediatric visual pathway optic nerve glioma of childhood paediatric optic nerve glioma paediatric optic tract glioma paediatric visual pathway glioma pediatric optic nerve glioma pediatric optic tract glioma Childhood optic nerve glioma carcinoid tumor (disease) of childhood carcinoid tumour (disease) of childhood childhood carcinoid tumor (disease) childhood carcinoid tumour (disease) paediatric carcinoid tumour (disease) pediatric carcinoid tumor (disease) Childhood carcinoid tumor apudoma nen - neuroendocrine neoplasm neuroendocrine neoplasia neuroendocrine tumor neuroendocrine tumour well-differentiated neuroendocrine tumor Neuroendocrine neoplasm central nervous system lymphoma cns lymphoma lymphoma of central nervous system malignant lymphomas of cns malignant lymphomas of the cns microglioma pcnsl pcnsl - primary cns lymphoma primary brain lymphoma primary cns lymphoma Primary central nervous system lymphoma chronic myeloproliferative disease chronic myeloproliferative disorder (clinical) cmpd mpd mpn myeloproliferative neoplasm, chronic myeloproliferative tumour Myeloproliferative neoplasm book syndrome böök syndrome Hyperhidrosis, premature cavities and premolar aplasia primary extragonadal germ cell tumour tumour of extragonadal germ cell tumour of the extragonadal germ cell Extragonadal germ cell tumor cancer of gall bladder gall bladder cancer gallbladder ca malignant gall bladder neoplasm malignant gallbladder tumour malignant neoplasm of gall bladder malignant tumour of gallbladder malignant tumour of the gallbladder Gallbladder cancer Boomerang dysplasia malignant germ cell tumour of the ovary malignant ovarian germ cell tumour mogct ovary malignant germ cell tumor ovary malignant germ cell tumour Malignant germ cell tumor of ovary childhood-onset hcc childhood-onset hcc (hepatocellular carcinoma) childhood-onset hepatocellular carcinoma paediatric carcinoma of the liver cell paediatric hcc pediatric hcc pediatric hcc (hepatocellular carcinoma) Pediatric hepatocellular carcinoma Lip and oral cavity carcinoma lung oat cell carcinoma oat cell carcinoma of lung oat cell carcinoma of the lung oat cell lung cancer oat cell lung carcinoma sclc - small cell lung cancer small cell cancer of the lung, somatic small-cell cancer of lung Small cell lung carcinoma Vaginal carcinoma carcinoma of mammalian vulva mammalian vulva carcinoma Vulvar carcinoma medulloblastoma of childhood paediatric medulloblastoma Childhood medulloblastoma Myelodysplastic/myeloproliferative disease cancer of paranasal sinus Paranasal sinus carcinoma BFLS BORJ Borjeson syndrome Borjeson-Forssman-Lehmann syndrome, X-linked recessive Börjeson-Forssman-Lehman Syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome intellectual disability, epilepsy, and endocrine disorder intellectual disability-epilepsy-endocrine disorders syndrome syndromic X-linked intellectual disability Borjeson-Forssman-Lehmann type Borjeson-forssman-lehmann syndrome carcinoma of ovary epithelial cancer of ovary malignant ovarian epithelial tumor malignant ovarian epithelial tumour malignant ovarian surface epithelial-stromal neoplasm malignant ovarian surface epithelial-stromal tumor malignant ovarian surface epithelial-stromal tumour ovarian epithelial cancer ovarian epithelial tumor, malignant ovarian malignant epithelial tumor ovarian malignant epithelial tumour ovarian stromal cancer Malignant epithelial tumor of ovary borderline epithelial tumour of the ovary borderline ovarian epithelial tumour borderline ovarian surface epithelial-stromal tumour epithelial ovarian tumour of borderline malignancy epithelial tumour of ovary of borderline malignancy epithelial tumour of the ovary of borderline malignancy low malignant potential ovarian tumor low malignant potential ovarian tumour ovarian borderline malignant tumor ovarian borderline malignant tumour ovarian low malignant potential tumor ovarian low malignant potential tumour ovarian tum. of low malig. poten. ovarian tumors of low malignant potential ovarian tumour of low malignant potential ovarian tumours of low malignant potential Borderline epithelial tumor of ovary ca - cancer of penis ca penis cancer of penis malignant neoplasm of body of penis malignant penile tumour malignant penis neoplasm malignant tumour of penis malignant tumour of the penis penile ca penis cancer Penile cancer pineal gland primitive neuroectodermal tumour pineal primitive neuroectodermal tumour pinealoblastoma pineoblastoma, malignant primitive neuroectodermal tumour of pineal gland primitive neuroectodermal tumour of the pineal gland Pineoblastoma pituitary adenocarcinoma pituitary adenocarcinoma (disease) pituitary gland carcinoma Pituitary carcinoma leukaemia plasmacytic pcl plasma cell leukemia, disease plasma cell leukemia, morphology plasmacytic leukaemia Plasma cell leukemia renal pelvis and ureter tcc renal pelvis and ureter transitional cell cancer renal pelvis and ureter transitional cell carcinoma renal pelvis and ureter urothelial carcinoma tcc of renal pelvis and ureter tcc of the renal pelvis and ureter transitional cell cancer of renal pelvis and ureter transitional cell cancer of the renal pelvis and ureter transitional cell carcinoma of renal pelvis and ureter transitional cell carcinoma of the pelvis and ureter transitional cell carcinoma of the upper urinary tract upper tract urothelial carcinoma urothelial carcinoma of the renal pelvis and ureter utuc Renal pelvis/ureter urothelial carcinoma bork syndrome tricho-retino-dento-digital syndrome uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome cancer of small intestine malignant small bowel tumour malignant small intestine tumour malignant tumour of small bowel malignant tumour of small intestine malignant tumour of the small bowel malignant tumour of the small intestine small intestine cancer Malignant tumor of small intestine brenner tumour of ovary brenner tumour of the ovary ovary brenner tumor ovary brenner tumour Ovarian Brenner tumor botryoid sarcoma botryoid sarcoma (morphologic abnormality) botryoid-type embryonal rhabdomyosarcoma sarcoma botryoides Botryoid rhabdomyosarcoma ml iv mliv mucolipidosis type 4 Mucolipidosis type iv ampulla cardiomyopathy apical ballooning syndrome ballooning cardiomyopathy broken heart syndrome left ventricular ballooning syndrome stress cardiomyopathy tako-tsubo syndrome transient left ventricular apical ballooning syndrome Takotsubo cardiomyopathy cystic epithelial stromal tumor of prostate cystic epithelial-stromal tumors of the prostate cystosarcoma phyllodes of the prostate phyllodes tumour of prostate phyllodes tumour of the prostate phyllodes type of atypical prostatic hyperplasia prostate gland phyllodes tumor prostate gland phyllodes tumour Prostate phyllodes tumor x-cald X-linked cerebral adrenoleukodystrophy Meralgia paresthetica cochleosaccular degeneration and cataract syndrome cochleosaccular degeneration with progressive cataract Cochleosaccular degeneration-cataract syndrome bothriocephalosis diphyllobothrium caused disease or disorder diphyllobothrium disease or disorder diphyllobothrium infection diphyllobothrium infectious disease fish tapeworm fish tapeworm infection intestinal diphyllobothriasis Diphyllobothriasis microcoria and congenital nephrosis syndrome microcoria-congenital nephrosis syndrome Pierson syndrome cancer of thyroid, hurthle cell thyroid carcinoma, hurthle cell Hurthle cell carcinoma of thyroid botulism poisoning infection caused by clostridium botulinum infection due to clostridium botulinum lame sickness Botulism congenital adamts13 deficiency congenital ttp familial thrombotic thrombocytopenia purpura familial thrombotic thrombocytopenic purpura / hemolytic uremic syndrome familial ttp familial ttp/hus hereditary thrombotic thrombocytopenic purpura thrombotic thrombocytopenic purpura, hereditary upshaw-schulman syndrome Congenital thrombotic thrombocytopenic purpura inborn error of organic acid metabolic process inborn organic acid metabolic process disorder organic acidemia organic aciduria rare inborn error of organic acid metabolic process Inborn organic aciduria bnhs boucher neuhäuser syndrome boucher-neuhauser syndrome boucher-neuhchäuser syndrome boucher-neuhäuser syndrome cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy Ataxia-hypogonadism-choroidal dystrophy syndrome severe intellectual disability, hypoplasia of thumb and hallux syndrome severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome temple baraitser syndrome tmbts Temple-baraitser syndrome agl glycogen storage disease amylo 1,6 glucosidase deficiency amylo-1,6-glucosidase deficiency cori disease cori's disease cori-forbes disease debrancher deficiency glycogen storage disease debrancher enzyme deficiency deficiency of debranching enzyme deficiency of dextrin forbes disease glycogen storage disease caused by mutation in agl glycogen storage disease iii glycogen storage disease type 3 glycogen storage disease, type iii glycogenosis due to glycogen debranching enzyme deficiency glycogenosis type 3 glycogenosis type iii gsd due to glycogen debranching enzyme deficiency gsd iii gsd type 3 gsdiii limit dextrin - glycogen limit dextrinosis Glycogen storage disease type III SADDAN SADDAN dysplasia severe achondroplasia with developmental delay and acanthosis nigricans Severe achondroplasia-developmental delay-acanthosis nigricans syndrome green monkey disease marburg disease marburg hemorrhagic fever mhf vervet monkey disease viral hemorrhagic fever, marburg Marburg virus disease classic infantile cln1 disease hagberg-santavouri type neuronal ceroid lipofuscinosis haltia-santavouri type neuronal ceroid lipofuscinosis polyunsaturated acid lipidosis polyunsaturated fatty acid lipidosis Infantile neuronal ceroid lipofuscinosis Camptodactyly of fingers acute adrenal insufficiency with meningococcemia meningococcal adrenal syndrome meningococcal hemorrhagic adrenalitis meningococcal waterhouse-friderichsen syndrome waterhouse-friderichsen disease wfs Waterhouse-Friderichsen syndrome adolescent macromastia diffuse hypertrophy of breast familial juvenile gigantomastia juvenile gigantomastia juvenile macromastia juvenile mammary hypertrophy pubertal breast hypertrophy virginal breast hypertrophy virginal mammary hypertrophy Familial juvenile hypertrophy of the breast benign calcifying epithelioma benign calcifying epithelioma of malherbe calcifying epitherlioma of malherbe epithelioma calcificans of malherbe pilomatricoma, somatic pilomatrixoma, benign Pilomatrixoma andersen cardiodysrhythmic periodic paralysis long qt syndrome type 7 lqt7 potassium-sensitive cardiodysrhythmic type Andersen Tawil syndrome Arima syndrome CORS Cerebellooculorenal syndrome Dekaban-Arima syndrome JS type B JS-OR Joubert syndrome with Senior-Loken syndrome Joubert syndrome with oculorenal defect anemia, hereditary sideroblastic 1, pyridoxine refractory anemia, sideroblastic, 1, pyridoxine refractory anemia, sideroblastic, 1, x-linked recessive congenital sideroblastic anemia sideroblastic anemia, x-linked x-linked pyridoxine-refractory sideroblastic anemia x-linked sideroblastic anaemia x-linked sideroblastic anemia xlsa X-linked sideroblastic anemia 1 ad polycystic liver disease adpcld adpld congenital cystic disease of liver congenital cystic liver congenital polycystic disease of liver congenital polycystic liver disease cystic disease of liver fibrocystic disease of liver isolated congenital polycystic liver disease isolated polycystic liver disease pcld pld - polycystic liver disease Autosomal dominant polycystic liver disease loeys-dietz syndrome caused by mutation in tgfbr1 loeys-dietz syndrome type 1 tgfbr1 loeys-dietz syndrome tgfbr1-related loeys-dietz syndrome tgfbr1-related thoracic aortic aneurysms and aortic dissections Loeys-dietz syndrome 1 Pseudodiastrophic dysplasia oligodendroglioma, anaplastic oligodendroglioma, anaplastic, malignant who grade iii oligodendroglial tumour Anaplastic oligodendroglioma melorheostosis, isolated, somatic mosaic Melorheostosis small cell variant of anaplastic large cell lymphoma Small cell variant anaplastic large cell lymphoma tsc2/pkd1 contiguous gene syndrome tuberous sclerosis, polycystic kidney disease contiguous gene syndrome tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis hemosiderosis of the central nervous system superficial hemosiderosis of the central nervous system superficial hemosiderosis of the cns superficial siderosis of central nervous system superficial siderosis of the central nervous system superficial siderosis of the cns Superficial siderosis glaucoma 1, open angle, type a glaucoma 1a, primary open angle glaucoma, dominant (juvenile onset) joag1a juvenile glaucoma caused by mutation in myoc juvenile open angle glaucoma caused by mutation in myoc myoc juvenile glaucoma myoc juvenile open angle glaucoma Glaucoma 1, open angle, a isolated congenital anosmia Congenital anosmia Cyprus facial-neuromusculoskeletal syndrome amazia aplasia or hypoplasia of breasts and/or nipples breasts and/or nipples, aplasia or hypoplasia of congenital absence of breast with absent nipple isolated congenital amastia Isolated congenital breast hypoplasia/aplasia CATCN1 CTRCT35 autosomal recessive congenital nuclear cataract 1 cataract 35, congenital nuclear cataract type 35 Cataract 35 distal myopathy with rimmed vacuoles distal myopathy, nonaka type dmrv hereditary inclusion body myopathy hereditary inclusion body myopathy type 2 hibm2 ibm 2 ibm2 inclusion body myopathy 2 inclusion body myopathy autosomal recessive inclusion body myopathy quadriceps sparing inclusion body myopathy type 2 quadricep sparing inclusion body myopathy quadriceps-sparing myopathy Gne myopathy hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome hibm3 ibm3 inclusion body myopathy type 3 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome AI2A1 KLK4 amelogenesis imperfecta amelogenesis imperfecta caused by mutation in KLK4 amelogenesis imperfecta pigmented hypomaturation type 1 amelogenesis imperfecta type IIA1 amelogenesis imperfecta, type IIA1 Amelogenesis imperfecta type 2A1 hereditary renal hypouricemia Familial renal hypouricemia acep aceruloplasminaemia deficiency of ceruloplasmin deficiency of ferroxidase hereditary ceruloplasmin deficiency hypoceruloplasminemia, hereditary neurodegeneration with brain iron accumulation 10 Aceruloplasminemia mul mulibrey dwarfism mulibrey growth disorder mulibrey nanism syndrome muscle, liver, brain, eye nanism syndrome muscle-liver-brain-eye nanism pericardial constriction-growth failure syndrome Mulibrey nanism chin myoclonus chin spasms familial trembling of the chin hereditary chin myoclonus hereditary chin-trembling Hereditary geniospasm porok4 porokeratosis 4, disseminated superficial actinic porokeratosis, disseminated superficial actinic 2 Porokeratosis 4, disseminated superficial actinic type porokeratosis 3, mibelli type Porokeratosis 3, disseminated superficial actinic type cap syndrome cdags (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome cdags syndrome craniosynostosis, anal anomaly, porokeratosis syndrome Craniosynostosis-anal anomalies-porokeratosis syndrome blue-dot cataract cataracts, congenital, cerulean cerulean cataract Congenital blue dot cataract golabi-ito-hall syndrome hamel cerebropalatocardiac syndrome mental retardation, x-linked renpenning type porteous syndrome renpenning syndrome type 1 renpenning syndrome, x-linked recessive sutherland-haan x-linked intellectual disability syndrome syndromic x-linked intellectual disability 8 x-linked intellectual deficit due to pqbp1 mutation x-linked intellectual disability due to pqbp1 mutations x-linked intellectual disability renpenning type x-linked intellectual disability with spastic diplegia x-linked intellectual disability, renpenning type Renpenning syndrome foamy myocardial transformation foamy myocardial transformation of infancy infantile cardiomyopathy with histiocytoid change infantile cardiomyopathy with histiocytoid changes myocardial or conduction system hamartoma Histiocytoid cardiomyopathy Linear scleroderma benign phyllodes tumour of breast benign phyllodes tumour of the breast breast phyllodes tumor, benign cystosarcoma phyllode of the breast cystosarcoma phylloide of the breast phyllodes tumor of the breast phylloide tumor of the breast phylloide tumour of the breast Benign breast phyllodes tumor Linear porokeratosis febrile ulceronecrotic pityriasis lichenoides acuta Febrile ulceronecrotic Mucha-Habermann disease bilateral mcdk bilateral multicystic renal dysplasia multicystic renal dysplasia, bilateral Bilateral multicystic dysplastic kidney Autoimmune myocarditis bairnsdale ulcer buruli ulcer disease cutaneous mycobacterium ulcerans infection daintree ulcer infection due to mycobacterium ulcerans mossman ulcer mycobacterium ulcerans caused disease or disorder mycobacterium ulcerans disease or disorder mycobacterium ulcerans infectious disease searl ulcer searle's ulcer searles's ulcer Buruli ulcer chancroidal bubo ducrey's chancre soft chancre - chancroid soft sore - chancroid ulcus molle, skin Chancroid CD4 Deficiency IMD79 Immunodeficiency 79 california disease coccidioides immitis caused disease or disorder coccidioides immitis disease or disorder coccidioides immitis infection coccidioides immitis infectious disease coccidioides infection coccidioidomycosis infection desert fever desert rheumatism posadas-wernicke disease primary extrapulmonary coccidioidomycosis san joaquin fever san joaquin valley fever Coccidioidomycosis classic complement early component deficiency genetic deficiency of early component of the classical complement pathway Complement component deficiency Complement receptor deficiency Cyclospora caused disease or disorder Cyclospora cayetanensis caused disease or disorder Cyclospora cayetanensis disease or disorder Cyclospora cayetanensis infectious disease Cyclospora disease or disorder Cyclospora infectious disease cyclosporosis infection of intestine caused by Cyclospora cayetanensis intestinal infection caused by Cyclospora cayetanensis Cyclosporiasis Congenital bowing of long bones cmv - cytomegalovirus retinitis cmv retinitis cytomegalovirus caused retinitis retinitis, cytomegaloviral Cytomegalovirus retinitis caebv (chronic active epstein-barr virus infection) syndrome caebv syndrome chronic ebv (epstein-barr virus) infection syndrome chronic ebv infection syndrome chronic epstein-barr virus infection syndrome imd32b immunodeficiency 32b, monocyte and dendritic cell deficiency, autosomal recessive immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive irf8 deficiency, autosomal recessive monocyte and dendritic cell deficiency, autosomal recessive Immunodeficiency 32b cold-induced autoinflammatory syndrome, familial fcas fcas - familial cold autoinflammatory syndrome fcu fcu - familial cold urticaria Familial cold autoinflammatory syndrome Boylan dew greco syndrome acute and fulminating melioidosis burkholderia pseudomallei caused disease or disorder burkholderia pseudomallei disease or disorder burkholderia pseudomallei infectious disease infection due to burkholderia pseudomallei infection due to malleomyces pseudomallei infection due to pseudomonas pseudomallei infection due to whitmore's bacillus nightcliff gardener's disease pseudoglanders subacute and chronic melioidosis whitmore's disease Melioidosis infection due to neisseria meningitidis meningococcal infectious disease neisseria meningitidis infection Meningococcal infection bare lymphocyte syndrome type i bls, type i blsi hla class i deficiency immunodeficiency by defective expression of hla (human leukocyte antigen) class 1 immunodeficiency by defective expression of hla class 1 immunodeficiency by defective expression of hla class type 1 immunodeficiency by defective expression of human leukocyte antigen class 1 immunodeficiency by defective expression of human leukocyte antigen class i immunodeficiency by defective expression of major histocompatibility complex class i major histocompatibility complex class i deficiency mhc (major histocompatibility complex) class i deficiency MHC class I deficiency brachioskeletogenital syndrome branchioskeletogenital syndrome bsg syndrome esws hypospadias, hypertelorism, upper 51d coloboma, and mixed-type hearing loss hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss hypospadias-hypertelorism-coloboma and deafness syndrome Elsahy-waters syndrome creutzfeldt-jakob variant disease new variant creutzfeldt-jakob disease nvcjd - new variant of creutzfeldt-jakob disease variant mcj vcjd vcjd - variant creutzfeldt-jakob disease Variant creutzfeldt-jakob disease lymphoproliferative disorder following transplantation post-transplantation lymphoproliferation post-transplantation lymphoproliferative syndrome ptld ptld - post-transplant lymphoproliferative disorder Post-transplant lymphoproliferative disease Naegleria fowleri infection Primary amebic meningoencephalitis Streptobacillosis spirillosis Rat-bite fever severe congenital neutropenia, autosomal dominant Autosomal dominant severe congenital neutropenia bacterial toxic-shock syndrome bacterial tss gram-positive septic shock shock syndrome (tss), toxic syndrome (tss), toxic shock toxic shock toxic shock syndrome, (tss) tss tss - toxic shock syndrome tss, toxic shock syndrome Toxic shock syndrome infection by salmonella typhi typhoid typhoidal salmonellosis Typhoid fever idiopathic retroperitoneal fibrosis ormond disease rpf - retroperitoneal fibrosis sclerosing retroperitonitis IgG4-related retroperitoneal fibrosis dermatofibrosarcoma dermatofibrosarcoma protuberans, somatic dfsp giant cell fibroblastoma of skin Dermatofibrosarcoma protuberans brachycephalofrontonasal dysplasia craniofrontonasal dysplasia, teebi type specc1l-related hypertelorism syndrome Teebi hypertelorism syndrome 1 hereditary clear cell renal carcinoma hereditary clear cell renal cell adenocarcinoma hereditary clear cell renal cell cancer hereditary primary clear cell renal cell adenocarcinoma hereditary primary clear cell renal cell carcinoma Hereditary clear cell renal cell carcinoma HPRCC chromophil carcinoma of kidney chromophil carcinoma of the kidney chromophil renal cell carcinoma papillary (chromophil) renal cell carcinoma papillary kidney carcinoma papillary renal cell adenocarcinoma papillary renal cell cancer renal cell carcinoma, papillary, type 1 sporadic papillary renal cell carcinoma Papillary renal cell carcinoma bdc bellini carcinoma bellini duct carcinoma carcinoma of collecting duct of renal tubule carcinoma of the collecting ducts of bellini cdc collecting duct carcinoma of kidney collecting duct of renal tubule carcinoma collecting duct renal cancer collecting duct renal cell carcinoma renal carcinoma, collecting duct type Collecting duct carcinoma ccrcc clear cell adenocarcinoma of kidney clear cell adenocarcinoma of the kidney clear cell adenocarcinoma, kidney clear cell kidney carcinoma clear cell renal carcinoma clear cell renal cell adenocarcinoma clear cell renal cell cancer clear-cell metastatic renal cell carcinoma (subtype) conventional (clear cell) renal cell adenocarcinoma cystic-multilocular variant grawitz tumour kidney clear cell adenocarcinoma rcc, clear cell adenocarcinoma renal cell carcinoma, clear cell adenocarcinoma renal clear cell adenocarcinoma Clear cell carcinoma of kidney aflp aflp - acute fatty liver of pregnancy nonalcoholic fatty liver during pregnancy Acute fatty liver of pregnancy aymé-gripp syndrome brachycephaly, deafness, cataract, intellectual disability syndrome brachycephaly, deafness, cataract, microstomia, and impaired intellectual development brachycephaly-deafness-cataract-intellectual disability syndrome brachycephaly-hearing loss-cataract-intellectual disability syndrome fine lubinsky syndrome Fine-lubinsky syndrome Mesangial proliferative glomerulonephritis autosomal recessive complex spastic paraplegia caused by mutation in zfyve26 autosomal recessive spastic paraplegia 15 autosomal recessive spastic paraplegia type 15 hereditary spastic paraparesis type 15 hereditary spastic paraplegia type 15 kjellin syndrome spastic paraplegia, retinal degeneration syndrome spastic paraplegia-retinal degeneration syndrome spg15 zfyve26 autosomal recessive complex spastic paraplegia Hereditary spastic paraplegia 15 autosomal recessive spastic paraplegia 25 autosomal recessive spastic paraplegia disc herniation syndrome autosomal recessive spastic paraplegia type 25 autosomal recessive spastic paraplegia-disc herniation syndrome hereditary spastic paraplegia type 25 spg25 Hereditary spastic paraplegia 25 ad-spg9a autosomal dominant complex spastic paraplegia type 9a autosomal dominant spastic paraplegia 9a autosomal dominant spastic paraplegia type 9a cataracts motor neuropathy-short stature-skeletal anomalies syndrome cataracts with motor neuronopathy, short stature and skeletal abnormalities cataracts, motor neuropathy, short stature, skeletal anomalies syndrome hereditary spastic paraplegia type 9a spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux spastic paraparesis, amyotrophy, cataracts, gastroesophageal reflux syndrome spg9a Hereditary spastic paraplegia 9A SPG16 X-linked spastic paraplegia 16 X-linked spastic paraplegia type 16 hereditary spastic paraplegia type 16 spastic paraplegia 16, X-linked, complicated, X-linked recessive Hereditary spastic paraplegia 16 RTN2 hereditary spastic paraplegia SPG12 autosomal dominant spastic paraplegia 12 autosomal dominant spastic paraplegia type 12 hereditary spastic paraplegia caused by mutation in RTN2 hereditary spastic paraplegia type 12 Hereditary spastic paraplegia 12 GM2 synthase deficiency SPG26 autosomal recessive spastic paraplegia 26 autosomal recessive spastic paraplegia type 26 hereditary spastic paraplegia type 26 Hereditary spastic paraplegia 26 SPG19 autosomal dominant spastic paraplegia 19 autosomal dominant spastic paraplegia type 19 hereditary spastic paraplegia type 19 Hereditary spastic paraplegia 19 SPG14 autosomal recessive spastic paraplegia 14 autosomal recessive spastic paraplegia type 14 hereditary spastic paraplegia type 14 spastic paraplegia 14 spastic paraplegia 14, autosomal recessive Hereditary spastic paraplegia 14 autosomal dominant spastic paraplegia 10 autosomal dominant spastic paraplegia type 10 hereditary spastic paraplegia caused by mutation in kif5a hereditary spastic paraplegia type 10 kif5a hereditary spastic paraplegia spastic paraplegia 10 with peripheral neuropathy spg10 Hereditary spastic paraplegia 10 SPG8 WASHC5 hereditary spastic paraplegia autosomal dominant spastic paraplegia 8 autosomal dominant spastic paraplegia type 8 hereditary spastic paraplegia caused by mutation in WASHC5 hereditary spastic paraplegia type 8 Hereditary spastic paraplegia 8 congenital atransferrinaemia congenital hypotransferrinemia Atransferrinemia Basal ganglia calcification, idiopathic, childhood-onset Brachydactylous dwarfism, mseleni type cacna1a hereditary episodic ataxia episodic ataxia type 2 (ea2) hereditary episodic ataxia caused by mutation in cacna1a Episodic ataxia type 2 NYS4 nystagmus 4, congenital, autosomal dominant Spinocerebellar ataxia 27a Chorea, remitting, with nystagmus and cataract MCOPCT1 Microphthalmia, isolated, with cataract 1 sca13 spinocerebellar ataxia type13 Spinocerebellar ataxia type 13 giant cell arteritis horton disease horton's disease horton's syndrome horton-gilmour disease horton-magath-brown syndrome hutchinson-horton-syndrome inflammation of temporal artery ta - temporal arteritis temporal artery inflammation temporal giant cell arteritis temporal megacellular arteritis Temporal arteritis HSPD1 hereditary spastic paraplegia SPG13 autosomal dominant spastic paraplegia 13 hereditary spastic paraplegia caused by mutation in HSPD1 hereditary spastic paraplegia type 13 Hereditary spastic paraplegia 13 dia Desmoplastic infantile astrocytoma Abrikossoff tumor Abrikossoff tumour Abrikossoff's tumor Abrikossoff's tumour granular cell myoblastoma granular cell neoplasm granular cell nerve sheath tumor granular cell nerve sheath tumour granular cell schwannoma granular cell tumor (morphologic abnormality) granular cell tumour (morphologic abnormality) Granular cell tumor acute erythroblastic leukaemia acute erythroleukemia - m6a subtype acute erythroleukemia - m6b subtype acute myeloid leukaemia m6 acute myeloid leukemia m6 ael aml (acute myeloid leukemia), m6 type aml m6 di guglielmo's disease erythremic myelosis erythroblastic leukaemia erythroleukemia, fab m6 fab m6 leukemia, erythroid, malignant m6 - acute erythroleukemia m6 acute myeloid leukaemia Acute myeloid leukemia, M6 type embryonal carcinoma - polyembryonal type embryonal carcinoma, polyembryonal type Polyembryoma T-cell and NK-cell neoplasm Pigmented dermatofibrosarcoma protuberans atp1a3 dystonic disorder dystonia type 12 dystonia-12 dystonic disorder caused by mutation in atp1a3 dyt-atp1a3 dyt12 dyt12 - dystonia 12 rapid onset dystonia parkinsonism Dystonia 12 BDA3 brachydactyly-clinodactyly brachymesophalangy V Brachydactyly type A3 dyt-thap1 dyt6 generalised cervical and upper-limb-onset dystonia generalised isolated dystonia caused by mutation in thap1 generalized cervical and upper-limb-onset dystonia generalized isolated dystonia caused by mutation in thap1 idiopathic torsion dystonia of mixed type thap1 dystonia thap1 generalised isolated dystonia thap1 generalized isolated dystonia torsion dystonia type 6 Torsion dystonia 6 dentoleukoencephalopathy Odontoleukodystrophy Fundus dystrophy, pseudoinflammatory, recessive form FADS arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome Fetal akinesia deformation sequence pep - polymorphic eruption of pregnancy polymorphic eruption of pregnancy puppp - pruritic urticarial papules and plaques of pregnancy Pruritic urticarial papules and plaques of pregnancy agammaglobulinemia, non-bruton type agm agm1 Autosomal agammaglobulinemia autosomal recessive juvenile parkinson disease type 2 parkin type of early-onset parkinson disease parkin type of juvenile parkinson disease parkinson disease, juvenile, type 2 prkn young-onset parkinson disease young-onset parkinson disease caused by mutation in prkn Autosomal recessive juvenile Parkinson disease 2 inherited Gronblad Strandberg syndrome inherited PXE Inherited pseudoxanthoma elasticum htlv 1 infection htlv i infection human t-cell lymphotropic virus (htlv) 1 infection human t-cell lymphotropic virus 1 infection human t-lymphotropic virus 1 caused disease or disorder human t-lymphotropic virus 1 disease or disorder human t-lymphotropic virus 1 infection Human t-lymphotropic virus 1 infectious disease Spinal muscular atrophy, ryukyuan type corneal amyloidosis gdcd gelatinous droplike corneal dystrophy lattice corneal dystrophy type iii primary familial amyloidosis of the cornea subepithelial amyloidosis of the cornea Gelatinous drop-like corneal dystrophy achm2 achromatopsia caused by mutation in cnga3 achromatopsia type 2 cnga3 achromatopsia rmch2 Achromatopsia 2 ACHM1 ACHM3 CNGB3 achromatopsia RMCH1 achromatopsia caused by mutation in CNGB3 achromatopsia type 3 rod monochromacy 1 rod monochromatism 1 Achromatopsia 3 oncogenic hypophosphatemic osteomalacia osteomalacia due to neoplasm osteomalacia due to neoplastic disease tio Tumor-induced osteomalacia acute vesiculation and crusting and scarring following sun exposure bazin's hydroa vacciniforme Hydroa vacciniforme anauxetic dysplasia type 1 spondyloepimetaphyseal dysplasia anauxetic type spondyloepimetaphyseal dysplasia menger type spondyloepimetaphyseal dysplasia, anauxetic type spondyloepimetaphyseal dysplasia, menger type spondylometaepiphyseal dysplasia, menger type Anauxetic dysplasia adult bartter syndrome barts3 bartter syndrome type 3 bartter syndrome type iii bartter's syndrome type 3 classic bartter syndrome Bartter disease type 3 brachydactyly-joint dysplasia syndrome Brachydactyly-elbow wrist dysplasia syndrome anogenital verrucous carcinoma of buschke-lowenstein anogenital verrucous carcinoma of buschke-löwenstein buschke-löwenstein giant condyloma giant acuminate warts Buschke Lowenstein tumor Ovarian gynandroblastoma encephalitis caused by human herpesvirus 6 infection hhv-6 encephalitis Encephalitis due to human herpesvirus 6 infection bilginturan brachydactyly bilginturan syndrome brachydactyly and arterial hypertension syndrome brachydactyly type e, with short stature and hypertension Brachydactyly-arterial hypertension syndrome congenital factor xi deficiency disease factor xi deficiency, autosomal dominant factor xi deficiency, autosomal recessive haemophilia c plasma thromboplastin antecedent deficiency pta deficiency rosenthal factor deficiency rosenthal syndrome rosenthal's disease thromboplastin antecedent deficiency Congenital factor xi deficiency Lipodermatosclerosis Hirschsprung disease intellectual disability syndrome Hirschsprung disease-intellectual disability syndrome microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease Mowat-wilson syndrome kawashima syndrome Isotretinoin-like syndrome MM Miyoshi distal myopathy Miyoshi muscular dystrophy Miyoshi myopathy classic gcd classic granular corneal dystrophy corneal dystrophy groenouw type i gcd1 gcdi granular corneal dystrophy type 1 granular corneal dystrophy type i granular corneal dystrophy, type i Groenouw corneal dystrophy type I Biber-Haab-Dimmer dystrophy LCDI Lcd1 classic lattice corneal dystrophy lattice corneal dystrophy type 1 Lattice corneal dystrophy type i Temtamy preaxial brachydactyly syndrome brachydactyly, long thumb type long thumb brachydactyly syndrome Brachydactyly-long thumb syndrome retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome rhyns (retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia) syndrome Rhyns syndrome anderson disease anderson syndrome cmrd crd Chylomicron retention disease Sandifer syndrome bilharzia bilharziasis blood fluke infection disease caused by schistosomatidae hemic distomiasis infection by schistosoma infection caused by schistosoma schistosomiasis - bilharziasis schistosomosis snail fever Schistosomiasis juvenile epithelial corneal dystrophy juvenile hereditary epithelial dystrophy juvenile hereditary epithelial dystrophy of meesmann mecd meesman's corneal dystrophy meesman's epithelial corneal dystrophy stocker-holt dystrophy Meesmann corneal dystrophy aseptic necrosis of the lunate bone keinbock disease keinbock's disease kienbock disease kienboeck's disease kienböck disease kienböck's disease lunatomalacia osteochondritis of the lunate bone osteochondrosis of the lunate bone progressive avascular necrosis of lunate progressive avascular necrosis of the lunate bone Morbus Kienboeck congenital dislocation of patella Congenital patella dislocation carmi syndrome epidermolysis bullosa, junctional 5b, with pyloric atresia epidermolysis bullosa, junctional, with pyloric stenosis itga6-related epidermolysis bullosa with pyloric atresia itgb4-related epidermolysis bullosa with pyloric atresia jeb with pyloric atresia junctional epidermolysis bullosa-pyloric atresia syndrome Junctional epidermolysis bullosa with pyloric atresia Ring dermoid syndrome Ring dermoid of cornea Hirayama disease JMADUE benign focal amyotrophy juvenile muscular atrophy of distal upper extremity juvenile muscular atrophy of the distal upper limb Monomelic amyotrophy duplication 8q/deletion 8p rec(8) syndrome rec8 syndrome san luis valley syndrome Recombinant 8 syndrome inborn error of long-chain-acyl-coa dehydrogenase activity inborn long-chain-acyl-coa dehydrogenase activity disorder lcad lcad - long chain acyl-coa dehydrogenase deficiency long chain acyl-coenzyme a dehydrogenase deficiency rare inborn error of long-chain-acyl-coa dehydrogenase activity Long chain acyl-CoA dehydrogenase deficiency spinal intradural arachnoid cysts Intradural spinal arachnoid cyst intellectual developmental disorder, x-linked, syndromic, siderius type intellectual developmental disorder, x-linked, syndromic, siderius type, x-linked recessive intellectual disability syndrome, x-linked, siderius type mrxssd siderius x-linked intellectual disability syndrome siderius-hamel syndrome Syndromic X-linked intellectual disability Siderius type dsp-related ectodermal dysplasia/skin fragility syndrome ectodermal dysplasia-skin fragility syndrome pkp1-related ectodermal dysplasia/skin fragility syndrome Epidermolysis bullosa simplex due to plakophilin deficiency snowflake retinal degeneration Snowflake vitreoretinal degeneration Biemond syndrome Brachydactyly-nystagmus-cerebellar ataxia syndrome sterol c5 desaturase deficiency sterol c5-desaturase deficiency Lathosterolosis epithelioid hemangioendothelioma of spleen littoral cell angioma of the spleen Littoral cell angioma griscelli-pruni??ras syndrome type 3 griscelli-pruniéras syndrome type 3 gs3 hypopigmentation-immunodeficiency disease type 3 Griscelli syndrome type 3 infection by aspergillus niger infection caused by aspergillus niger Aspergillus niger infection lymphoma of the orbit Orbital lymphoma Christian brachydactyly preaxial brachydactyly with hallux varus and thumb abduction Brachydactyly-preaxial hallux varus syndrome herpes zoster ophthalmicus herpes zoster with ophthalmic complications herpetic keratitis ocular herpes zoster ocular disease zoster ophthalmicus Ophthalmic herpes zoster ectodermal dysplasia-sensorineural hearing loss syndrome Ectodermal dysplasia-sensorineural deafness syndrome nephrogenic fibrosing dermopathy Nephrogenic systemic fibrosis dfna17 nonsyndromic hearing loss and deafness Autosomal dominant nonsyndromic hearing loss 17 cnbp myotonic dystrophy myotonic dystrophy caused by mutation in cnbp proximal myotonic dystrophy ricker disease ricker syndrome Myotonic dystrophy type 2 SPG29 autosomal dominant spastic paraplegia 29 hereditary spastic paraplegia type 29 Hereditary spastic paraplegia 29 danon disease, x-linked dominant glycogen storage disease due to lysosomal associated membrane protein 2 deficiency glycogenosis due to lamp-2 deficiency gsd due to lamp-2 deficiency lamp2 lysosomal glycogen storage disease lysosomal glycogen storage disease caused by mutation in lamp2 lysosomal glycogen storage disease with normal acid maltase activity pseudoglycogenosis ii Danon disease anterior basement membrane dystrophy cogan corneal dystrophy cogan microcystic epithelial dystrophy corneal dystrophy, cogan type corneal epithelial and basement membrane dystrophy corneal epithelial dystrophy ebmd ebmd - epithelial basement membrane dystrophy map-dot-fingerprint corneal dystrophy map-dot-fingerprint dystrophy mdf - map dot fingerprint dystrophy microcystic corneal dystrophy microscopic cystic corneal dystrophy Epithelial basement membrane dystrophy ARCI4A ICR2B autosomal recessive congenital ichthyosis type 4A ichthyosis congenita IIB ichthyosis, congenital, autosomal recessive type 4A lamellar ichthyosis 2 Autosomal recessive congenital ichthyosis 4A ARCI5 autosomal recessive congenital ichthyosis type 5 autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis ichthyosis, congenital, autosomal recessive type 5 Autosomal recessive congenital ichthyosis 5 ichthyosis, lamellar, autosomal dominant Autosomal dominant lamellar ichthyosis alligator skin cie collodion baby congenital ichthyosiform erythroderma congenital ichthyosiform erythroderma (disease) congenital lamellar ichthyosis congenital non bullous ichthyosiform erythroderma congenital non-bullous ichthyosiform erythroderma congenital non-bullous ichthyosis erythrodermic ichthyosis ichthyosiform erythroderma ichthyosis lammellaris ichthyosis, congenital, nonblistering non-bullous congenital ichthyosiform erythroderma nonbullous congenital ichthyosiform erythroderma nonbullous congenital ichthyosis Congenital nonbullous ichthyosiform erythroderma ebs-mp ebs2f epidermolysis bullosa simplex 2f, with mottled pigmentation simple epidermolysis bullosa with mottled pigmentation Epidermolysis bullosa simplex with mottled pigmentation ATFB hereditary atrial fibrillation (disease) Familial atrial fibrillation acy1d deficiency of aminoacylase 1 n-acyl-l-amino acid amidohydrolase deficiency neurological conditions associated with aminoacylase 1 deficiency Aminoacylase 1 deficiency ancylostoma caused disease or disorder ancylostoma disease or disorder ancylostoma infectious disease ankylostomiasis Ancylostomiasis acne vermoulante atrophoderma vermiculata folliculitis ulerythematosa reticulate honeycomb atrophy of face keratosis pilaris affecting the follicles of the eyebrow hairs type of genodermatosis vermiculata atrophoderma Atrophoderma vermiculatum cercarial dermatitis clam digger's itch clam-digger's itch duck itch infection by cercariae of schistosoma lake itch marine dermatitis schistosomal cercarial dermatitis schistosome dermatitis sea bather's eruption sea lice rash swamp itch swimmers' itch Cutaneous schistosomiasis pss (progressive systemic sclerosis) scleroderma (& [systemic sclerosis]) scleroderma syndrome ss - systemic sclerosis ssc ssc, diffuse sclerosis Systemic sclerosis limited systemic sclerosis systemic sclerosis without skin thickening Systemic sclerosis sine scleroderma dSSc diffuse cutaneous systemic scleroderma progressive cutaneous systemic scleroderma progressive cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis familial benign hypercalcemia, type ii familial hypocalciuric hypercalcemia type 2 fhh type 2 hhc2 hpocalciuric hypercalcemia, type ii hypocalciuric hypercalcemia type ii hypocalciuric hypercalcemia, type ii Familial hypocalciuric hypercalcemia 2 porcelain nails Leukonychia totalis nonsyndromic congenital nail disorder type 2 Nonsyndromic congenital nail disorder 2 coif coif syndrome congenital isolated onychodysplasia congenital onychodysplasia of the index fingers iso-kikuchi syndrome nonsyndromic congenital nail disorder type 7 Nonsyndromic congenital nail disorder 7 11p11.2 deletion p11pds p11pds - proximal 11p deletion syndrome Potocki-shaffer syndrome benign neonatal epilepsy 1 benign neonatal seizures caused by mutation in kcnq2 kcnq2 benign neonatal seizures kcnq2-related benign familial neonatal epilepsy seizures, benign familial neonatal, type 1 seizures, benign neonatal, 1 Seizures, benign familial neonatal, 1 limbic encephalitis, neuromyotonia, hyperhidrosis, polyneuropathy syndrome limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome morvan fibrillary chorea morvan's fibrillary chorea Morvan syndrome NEC Necrotizing enterocolitis parapsoriasis varioliformis pityriasis lichenoides acuta pityriasis lichenoides et varioliformis of mucha-habermann pla - pityriasis lichenoides acuta pleva - pityriasis lichenoides et varioliformis acuta Acute lichenoid pityriasis MOA WHO grade II mixed glioma glioma, mixed, benign mixed astrocytic-oligodendroglial neoplasm mixed astrocytic-oligodendroglial tumor mixed astrocytic-oligodendroglial tumour mixed astrocytoma-oligodendroglioma mixed oligo-astrocytoma mixed oligoastrocytoma mixed oligodendroglioma-astrocytoma Oligoastrocytoma Dowling-Degos disease type 1 dark dot disease reticular pigment anomaly of flexures Dowling-Degos disease canda syndrome canomad (chronic ataxic neuropathy, ophthalmoplegia, monoclonal igm protein, cold agglutinins and disialosyl antibodies) syndrome chronic ataxic neuropathy, ophthalmoplegia, monoclonal igm protein, cold agglutinins and disialosyl antibodies chronic ataxic neuropathy, ophthalmoplegia, monoclonal immunoglobulin m protein, cold agglutinin and disialosyl antibody syndrome chronic ataxic neuropathy-ophthalmoplegia-igm paraprotein-cold agglutinins-disialosyl antibodies syndrome chronic sensory ataxic neuropathy with anti-disialosyl igm antibodies chronic sensory ataxic neuropathy with anti-dyalosyl igm antibodies CANOMAD syndrome Aerobic Actinomyces infection bda1 brachydactyly, farabee type farabee type brachydactyly short stature with nonspecific skeletal abnormalities 2 type a1 brachydactyly Brachydactyly type a1 distal duplication xq intellectual developmental disorder, x-linked syndromic, lubs type, x-linked recessive intellectual developmental disorder, x-linked, syndromic, lubs type intellectual disability, x-linked, syndromic, lubs type intellectual disability, x-linked, with recurrent respiratory infections lubs x-linked intellectual disability syndrome methyl-cpg (cytosine phosphate guanine) binding protein-2 duplication syndrome methyl-cytosine phosphate guanine binding protein-2 duplication syndrome mrxsl proximal xq28 duplication syndrome telomeric duplication xq x-linked intellectual disability syndrome, lubs type x-linked intellectual disability-hypotonia-recurrent infections syndrome xq28 (mecp2) duplication Syndromic X-linked intellectual disability Lubs type human t lymphotropic virus type 2 infection human t-cell leukemia virus type 2 infection HTLV-2 infection CMAVM1 PKWS Parkes Weber syndrome Capillary malformation-arteriovenous malformation 1 Basal cell carcinoma with follicular differentiation bda2 brachydactyly mohr wriedt type brachydactyly type a2 brachydactyly, mohr-wriedt type brachymesophalangy ii mohr-wriedt type brachydactyly short index fingers and second toes Type A2 brachydactyly aion - anterior ischemic optic neuropathy ischaemic optic neuropathy ischemic optic neuropathy Anterior ischemic optic neuropathy col9a3 multiple epiphyseal dysplasia (disease) col9a3-related multiple epiphyseal dysplasia epiphyseal dysplasia, multiple, 3, with or without myopathy epiphyseal dysplasia, multiple, type 3 multiple epiphyseal dysplasia (disease) caused by mutation in col9a3 Epiphyseal dysplasia, multiple, 3 autosomal recessive multiple epiphyseal dysplasia edm4 epiphyseal dysplasia, multiple, type 4 med4 multiple epiphyseal dysplasia (disease) caused by mutation in slc26a2 multiple epiphyseal dysplasia, recessive polyepiphyseal dysplasia type 4 recessive multiple epiphyseal dysplasia rmed slc26a2 multiple epiphyseal dysplasia (disease) Multiple epiphyseal dysplasia type 4 BHMED EDM5 MATN3 multiple epiphyseal dysplasia (disease) MED5 Polyepiphyseal dysplasia type 5 bilateral hereditary micro-epiphyseal dysplasia epiphyseal dysplasia, multiple, type 5 multiple epiphyseal dysplasia (disease) caused by mutation in MATN3 Multiple epiphyseal dysplasia type 5 arrhythmogenic right ventricular dysplasia/cardiomyopathy, autosomal dominant keratoderma with wooly hair type i keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome keratosis palmoplantaris with arrythmogenic cardiomyopathy nxd palmoplantar hyperkeratosis with arrhythmogenic cardiomyopathy palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy palmoplantar keratoderma with arrythmogenic cardiomyopathy Naxos disease alps with recurrent viral infections alps2b autoimmune lymphoproliferative syndrome caused by mutation in casp8 autoimmune lymphoproliferative syndrome type iib autoimmune lymphoproliferative syndrome with recurrent viral infection autoimmune lymphoproliferative syndrome with recurrent viral infections autoimmune lymphoproliferative syndrome, type iib casp8 autoimmune lymphoproliferative syndrome caspase 8 deficiency caspase 8 deficiency syndrome caspase eight deficiency state Autoimmune lymphoproliferative syndrome type 2B autoimmune lymphoproliferative syndrome without fas mutations dald dald - dianzani autoimmune lymphoproliferative disease dianzani autoimmune lymphoproliferative syndrome dianzani form of autoimmune lymphoproliferative disease Dianzani autoimmune lymphoproliferative disease auriculo-condylar syndrome question mark ear syndrome question mark ears syndrome Auriculocondylar syndrome Familial cutaneous collagenoma atp8b1-related intrahepatic cholestasis byler disease byler syndrome cholestasis, progressive familial intrahepatic 1 cholestasis, progressive familial intrahepatic, type 1 fic1 deficiency pfic1 pfic1 - progressive familial intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 cholestasis, progressive familial intrahepatic, type 4 pfic4 pfic4 - progressive familial intrahepatic cholestasis type 4 progressive familial intrahepatic cholestasis caused by mutation in tjp2 progressive familial intrahepatic cholestasis type 4 progressive familial intrahepatic cholestasis type iv tjp2 deficit tjp2 progressive familial intrahepatic cholestasis Cholestasis, progressive familial intrahepatic, 4 cholestasis intrahepatic of pregnancy icp gravidic intrahepatic cholestasis icp intrahepatic cholestasis of pregnancy pregnancy related cholestasis pregnancy-related cholestasis recurrent intrahepatic cholestasis of pregnancy recurrent jaundice of pregnancy ricp - recurrent intrahepatic cholestasis of pregnancy Cholestasis of pregnancy ddu dermodistortive urticaria vbu vibratory urticaria vibratory urticaria, autosomal dominant Autosomal dominant vibratory urticaria astrocytoma, benign astrocytoma, pilocytic, benign grade i astrocytic tumour pilocytic astrocytoma, somatic piloid astrocytoma Pilocytic astrocytoma eactl - enteropathy-associated t-cell lymphoma eatl eatl - enteropathy-associated t-cell lymphoma eatl, type i enteropathy type (intestinal) t-cell lymphoma enteropathy-associated t-cell lymphoma, type i ettl intestinal t-cell lymphoma Enteropathy-associated t-cell lymphoma dyssegmental dysplasia - rolland-desbuquois type dyssegmental dysplasia, rolland-desbuquois type Rolland-Debuqois syndrome intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome mental retardation syndrome belgian type Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome large cell granular lymphogenous leukaemia large cell granular lymphogenous leukemia large cell granular lymphoid leukaemia large granular lymphocytic leukaemia leukemia, large granular lymphocytic, malignant lgll proliferation of large granular lymphocytes t-cell large gran. lymph. leuk. t-cell large granular lymphocytic leukaemia t-cell large granular lymphocytosis t-cell lgl leukaemia t-cell lgl leukemia t-gamma lymphoproliferative disease t-lgl t-lgl leukaemia t-lgl leukemia tgamma large granular lymphocyte leukaemia tgamma large granular lymphocyte leukemia T-cell large granular lymphocyte leukemia 3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency type 1 basd1 bile acid synthesis defect, congenital, type 1 cbas1 congenital bile acid synthesis defect caused by mutation in hsd3b7 congenital bile acid synthesis defect type 1 hsd3b7 congenital bile acid synthesis defect Congenital bile acid synthesis defect 1 Tukel syndrome infection caused by paragonimus lung fluke disease lung fluke infection paragonimosis paragonimus westermani caused disease or disorder paragonimus westermani disease or disorder paragonimus westermani infectious disease pulmonary distomatosis pulmonary distomiasis pulmonary paragonimiasis Infection by Paragonimus autosomal dominant dopa responsive dystonia dystonia type 5 dystonia, dopa-responsive, autosomal dominant dystonia, dopa-responsive, with or without hyperphenylalaninemia dystonia, progressive, with diurnal variation dystonia-parkinsonism with diurnal fluctuation dyt-gch1 gtp cyclohydrolase 1-deficient dopa-responsive dystonia segawa syndrome segawa syndrome, autosomal dominant Dystonia 5 dds1 developmental malformations-hearing loss-dystonia syndrome Developmental malformations-deafness-dystonia syndrome brachydactyly type a5 Type A5 brachydactyly asherson's syndrome caps catastrophic aps Catastrophic antiphospholipid syndrome mdpt1 pattern dystrophy Patterned dystrophy of the retinal pigment epithelium acardia Congenital acardia mfc-multifocal choroiditis Multifocal choroiditis carbohydrate deficient glycoprotein syndrome type ia cdg - carbohydrate-deficient glycoprotein syndrome type i cdg 1a cdg ia cdg syndrome type ia cdg-ia cdg1a congenital disorder of glycosylation type 1a phosphomannomutase 2 deficiency pmm2-cdg PMM2-congenital disorder of glycosylation alg3 congenital disorder of glycosylation alg3-cdg alg3-cdg - asparagine-linked glycosylation 3 congenital disorder of glycosylation asparagine-linked glycosylation 3 congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type id cdg syndrome type id cdg-id cdg1d cdgid congenital disorder of glycosylation type 1d mannosyltransferase 6 deficiency ALG3-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type 2a carbohydrate deficient glycoprotein syndrome type iia carbohydrate-deficient glycoprotein syndrome type ii cdg - carbohydrate-deficient glycoprotein syndrome type ii cdg syndrome type iia cdg-iia cdg2a congenital disorder of glycosylation type 2a congenital disorder of glycosylation type iia mgat2-cdg mgat2-cdg - alpha-1,6-mannosyl-glycoprotein beta-1,2-n-acetylglucosaminyltransferase congenital disorder of glycosylation n-acetylglucosaminyl transferase ii deficiency n-acetylglucosaminyltransferase 2 deficiency MGAT2-congenital disorder of glycosylation alg6 congenital disorder of glycosylation alg6-cdg (cdg-ic) alg6-cdg1c carbohydrate deficient glycoprotein syndrome type 1c carbohydrate deficient glycoprotein syndrome type ic carbohydrate deficient glycoprotein syndrome type v cdg syndrome type ic cdg-ic cdg1c cdgic congenital disorder of glycosylation caused by mutation in alg6 congenital disorder of glycosylation type 1c glucosyltransferase 1 deficiency ALG6-congenital disorder of glycosylation 1C bda6 brachydactyly type a6 brachydactyly, type a6 osebold remondini syndrome Osebold-remondini syndrome carbohydrate deficient glycoprotein syndrome type ib cdg syndrome type ib cdg-ib cdg1b congenital disorder of glycosylation type 1b mannose-6-phosphate isomerase congenital disorder of glycosylation mannosephosphate isomerase congenital disorder of glycosylation mpi-cdg mpi-cdg - mannosephosphate isomerase congenital disorder of glycosylation phosphomannose isomerase deficiency MPI-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type ie cdg syndrome type ie cdg-ie cdg1e cdgie congenital disorder of glycosylation caused by mutation in dpm1 dol-p-mannosyltransferase deficiency dolichol-phosphate-mannose synthase 1 deficiency dpm1 congenital disorder of glycosylation dpm1-cdg - dolichyl-phosphate mannosyltransferase 1 catalytic subunit congenital disorder of glycosylation Congenital disorder of glycosylation type 1e carbohydrate deficient glycoprotein syndrome type if cdg syndrome type if cdg-if cdg1f cdgif congenital disorder of glycosylation type 1f mannose-p-dolichol utilization defect 1 mpdu1-cdg mpdu1-cdg - mannose-p-dolichol utilization defect 1 - congenital disorder of glycosylation MPDU1-congenital disorder of glycosylation alg12-cdg carbohydrate deficient glycoprotein syndrome type ig cdg syndrome type ig cdg-ig cdg1g cdgig congenital disorder of glycosylation type 1g mannosyltransferase 8 deficiency ALG12-congenital disorder of glycosylation alg8 congenital disorder of glycosylation alg8-cdg - asparagine-linked glycosylation 8 congenital disorder of glycosylation asparagine-linked glycosylation 8 congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type ih cdg syndrome type ih cdg-ih cdg1h congenital disorder of glycosylation type 1h glucosyltransferase 2 deficiency ALG8-congenital disorder of glycosylation 22) syndrome der(22) syndrome due to 3:1 meiotic disjunction events der(22)t(11 supernumerary der(22) syndrome supernumerary der(22)t(11 supernumerary derivative 22 chromosome syndrome Emanuel syndrome alg2-cdg carbohydrate deficient glycoprotein syndrome type ii cdg 1i cdg ii cdg syndrome type ii cdg-ii cdg1i congenital disorder of glycosylation type 1i congenital disorder of glycosylation, type ii mannosyltransferase 2 deficiency ALG2-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type ij cdg syndrome type ij cdg-ij cdg1j cdgij congenital disorder of glycosylation type 1j dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency dpagt1-cdg dpagt1-cdg - dolichyl-phosphate n-acetylglucosamine phosphotransferase congenital disorder of glycosylation DPAGT1-congenital disorder of glycosylation alg1 congenital disorder of glycosylation alg1-cdg alg1-cdg - asparagine-linked glycosylation 1 congenital disorder of glycosylation asparagine-linked glycosylation 1 congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type ik cdg syndrome type ik cdg-ik cdg1k congenital disorder of glycosylation type 1k congenital disorder of glycosylation type ik mannosyltransferase 1 deficiency ALG1-congenital disorder of glycosylation alg9 congenital disorder of glycosylation alg9-cdg alg9-cdg - asparagine-linked glycosylation 9 congenital disorder of glycosylation asparagine-linked glycosylation 9 congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type 1l cdg syndrome type il cdg-il cdg1l congenital disorder of glycosylation type 1l mannosyltransferase 7-9 deficiency ALG9-congenital disorder of glycosylation brachydactyly, Smorgasbord type Brachydactyly type a7 b4galt1-cdg b4galt1-cdg - beta-1,4-galactosyltransferase deficiency congenital disorder of glycosylation beta-1,4-galactosyltransferase deficiency carbohydrate deficient glycoprotein syndrome type 2d carbohydrate deficient glycoprotein syndrome type iid cdg syndrome type iid cdg-iid cdg2d congenital disorder of glycosylation type 2d congenital disorder of glycosylation type iid B4GALT1-congenital disorder of glycosylation carbohydrate deficient glycoprotein syndrome type iie cdg syndrome type iie cdg-iie cdg2e cog7 (component of oligomeric golgi complex 7) congenital disorder of glycosylation cog7 congenital disorder of glycosylation cog7-cdg component of oligomeric golgi complex 7 congenital disorder of glycosylation congenital disorder of glycosylation type 2e congenital disorder of glycosylation type iie COG7-congenital disorder of glycosylation congenital erythrocytosis due to erythropoietin receptor mutation congenital polycythemia due to erythropoietin receptor mutation epor familial polycythemia erythrocytosis, familial, 1 erythrocytosis, familial, type 1 erythrocytosis, somatic familial erythrocytosis 1 familial erythrocytosis type 1 familial erythrocytosis, 1 familial polycythemia caused by mutation in epor pfcp primary congenital erythrocytosis primary familial and congenital polycythemia primary familial congenital polycythemia Primary familial polycythemia due to EPO receptor mutation majewski osteodysplastic primordial dwarfism type ii mopd (microcephalic osteodysplastic primordial dwarfism) type ii mopd type ii osteodysplastic primordial dwarfism type ii osteodysplastic primordial dwarfism, type ii Microcephalic osteodysplastic primordial dwarfism type ii atriodigital dysplasia slovenian type atriodigital dysplasia, slovenian type cardiac conduction disease with dilated cardiomyopathy and brachydactyly syndrome cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome heart-hand syndrome slovenian type Heart-hand syndrome, slovenian type Tabatznik syndrome atriodigital dysplasia type 2 Heart-hand syndrome type 2 glnd inherited glutamine synthetase deficiency inherited gs deficiency Congenital brain dysgenesis due to glutamine synthetase deficiency goldberg shprintzen megacolon syndrome goldberg-shprintzen megacolon syndrome goshs megacolon microcephaly syndrome megacolon-microcephaly syndrome Goldberg-shprintzen syndrome brachydactyly syndrome type b type b brachydactyly Brachydactyly type b omphalocele syndrome shprintzen goldberg type shprintzen goldberg omphalocele syndrome Omphalocele syndrome, shprintzen-goldberg type Nondystrophic myotonia bdc type c brachydactyly Brachydactyly type c thrombocytopenia, cyclic tidal platelet dysgenesis Cyclic thrombocytopenia synostoses, tarsal, carpal and digital Calcaneonavicular coalition semd-md spondyloepimetaphyseal dysplasia with joint laxicity, hall type spondyloepimetaphyseal dysplasia with joint laxity hall type spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type spondyloepimetaphyseal dysplasia with multiple dislocations, hall type Spondyloepimetaphyseal dysplasia with multiple dislocations sca14 spinocerebellar ataxia type14 Spinocerebellar ataxia type 14 Brachydactyly type e hadh hyperinsulinemic hypoglycemia (disease) hadh-related hyperinsulinism hyperinsulinemic hypoglycemia (disease) caused by mutation in hadh hyperinsulinemic hypoglycemia due to hadh deficiency hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency hyperinsulinemic hypoglycemia, familial, type 4 hyperinsulinism due to glutamodehydrogenase deficiency hyperinsulinism due to schad deficiency hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency hyperinsulinism due to short chain 3-hydroxylacyl-coa dehydrogenase deficiency Hyperinsulinemic hypoglycemia, familial, 4 pyridoxine-responsive sideroblastic anemia Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive Lehman syndrome Lateral meningocele syndrome aortic aneurysm, familial thoracic type 4 familial thoracic aortic aneurysm and aortic dissection caused by mutation in myh11 myh11 familial thoracic aortic aneurysm and aortic dissection myh11-related thoracic aortic aneurysms and aortic dissections Aortic aneurysm, familial thoracic 4 aplasia of fibula co-occurrent with complex brachydactyly du pan syndrome fibular aplasia and complex brachydactyly fibular hypoplasia and complex brachydactyly Acromesomelic dysplasia 2b 11-beta-hydroxysteroid dehydrogenase deficiency type 1 cortrd crd deficiency of (r)-20-hydroxysteroid dehydrogenase deficiency of cortisone reductase hyperandrogenism due to cortisone reductase deficiency Cortisone reductase deficiency jcml jcml - juvenile chronic myeloid leukemia jmml juvenile chronic myelogenous leukaemia juvenile chronic myelogenous leukemia juvenile chronic myeloid leukaemia juvenile chronic myeloid leukemia juvenile chronic myelomonocytic leukaemia juvenile chronic myelomonocytic leukemia juvenile myelomonocytic leukaemia juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation leukemia, juvenile myelomonocytic, somatic Juvenile myelomonocytic leukemia IPS congenital ichthyosis type 4 idiopathic pneumonia syndrome Ichthyosis prematurity syndrome retinitis pigmentosa 91 Benign concentric annular macular dystrophy PDH phosphatase deficiency Pyruvate dehydrogenase phosphatase deficiency CATC2 CTRCT18 FYCO1 cataract (disease) autosomal recessive congenital cataract 2 cataract (disease) caused by mutation in FYCO1 cataract 18 autosomal recessive cataract 18, autosomal recessive cataract type 18 Cataract 18 CMS2A congenital myasthenic syndrome 2A slow-channel congenital myasthenic syndrome type 2A Congenital myasthenic syndrome 2A ataxia, posterior column, with retinitis pigmentosa autosomal recessive posterior column ataxia and retinitis pigmentosa posterior column ataxia with retinitis pigmentosa syndrome retinopathy-sensory neuropathy syndrome retsns Posterior column ataxia-retinitis pigmentosa syndrome Hodgkin disease susceptibility, pseudoautosomal Lymphoma, hodgkin, x-linked pseudoautosomal bda4 brachydactyly, temtamy type brachymesophalangy ii and v temtamy type brachydactyly type a4 brachydactyly Brachydactyly type a4 Diffuse Pulmonary Lymphangiomatosis congenital pulmonary lymphangiectasis pulmonary lymphangiomatosis Congenital pulmonary lymphangiectasia acvrl1 hereditary hemorrhagic telangiectasia acvrl1-related hereditary hemorrhagic telangiectasia hereditary hemorrhagic telangiectasia caused by mutation in acvrl1 telangiectasia, hereditary hemorrhagic, type ii Telangiectasia, hereditary hemorrhagic, type 2 Hereditary hemorrhagic telangiectasia type 3 polydactyly, preaxial type 4 polydactyly, preaxial, type iv ppd4 preaxial polydactyly type 4 preaxial polydactyly type iv Polysyndactyly 4 sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome dermatomyositis sine myositis Amyopathic dermatomyositis laeb lethal acantholytic erosive disorder Lethal acantholytic epidermolysis bullosa GINGF3 Fibromatosis, gingival, 3 LGS Lennox syndrome Lennox-Gastaut syndrome FN1 fibronectin glomerulopathy fibronectin glomerulopathy caused by mutation in FN1 glomerulopathy with fibronectin deposits type 2 Glomerulopathy with fibronectin deposits 2 GDF5 multiple synostoses syndrome multiple synostoses syndrome caused by mutation in GDF5 multiple synostoses syndrome type 2 Multiple synostoses syndrome 2 Autosomal recessive nonsyndromic hearing loss 51 Autosomal recessive nonsyndromic hearing loss 55 BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM anodontia-hypotrichosis syndrome brachymetapody anodontia hypotrichosis albinoidism Oculoosteocutaneous syndrome mitochondrial neurogastrointestinal encephalomyopathy syndrome mitochondrial neurogastrointestingal encephalopathy Mitochondrial neurogastrointestinal encephalomyopathy brain-bone-fat disease nasu-hakola disease nhd plo-sl plosl plosl - polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (plosl) presenile dementia with bone cysts progressive dementia with lipomembranous polycystic osteodysplasia Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly hyperinsulinemic hypoglycemia (disease) caused by mutation in kcnj11 hyperinsulinemic hypoglycemia due to kir6.2 deficiency hyperinsulinemic hypoglycemia, familial, type 2 kcnj11 hyperinsulinemic hypoglycemia (disease) kcnj11-related hyperinsulinism Hyperinsulinemic hypoglycemia, familial, 2 gdh hyperinsulinism glud1 hyperinsulinism glud1 related hyperinsulinism and hyperammonemia syndrome glud1-related hyperinsulinism glutamate dehydrogenase 1 related hyperinsulinism and hyperammonemia syndrome hi/ha syndrome hyperinsulinemic hypoglycemia, familial, type 6 hyperinsulinism and hyperammonemia syndrome hyperinsulinism/hyperammonemia syndrome Hyperinsulinism-hyperammonemia syndrome eihi exercise-induced hyperinsulinemic hypoglycemia hyperinsulinemic hypoglycemia, familial, type 7 hyperinsulinism due to monocarboxylate transporter 1 deficiency hyperinsulinism due to slc16a1 deficiency mct1 hyperinsulinism Exercise-induced hyperinsulinism Autosomal dominant nonsyndromic hearing loss 3A Autosomal dominant nonsyndromic hearing loss 53 deafness, neurosensory, autosomal recessive 47 Autosomal recessive nonsyndromic hearing loss 47 anhidrotic ectodermal dysplasia with immunodeficiency eda-id hed-id hypohidrotic ectodermal dysplasia with immunodeficiency Ectodermal dysplasia and immune deficiency SCO2 myopia (disease) myopia (disease) caused by mutation in SCO2 myopia type 6 Myopia 6 SED, Maroteaux type pseudo-Morquio syndrome type 2 spondyloepiphyseal dysplasia Maroteaux type spondyloepiphyseal dysplasia, Maroteaux type Spondyloepimetaphyseal dysplasia, maroteaux type cednik (cerebral dysgenesis, neuropathy, ichthyosis, keratoderma) syndrome cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome Cednik syndrome facioscapulohumeral dystrophy facioscapulohumeral myopathy fascioscapulohumeral muscular dystrophy fmd - facioscapulohumeral muscular dystrophy fsh - facioscapulohumeral muscular dystrophy fsh dystrophy fshd fshd - facioscapulohumeral muscular dystrophy fshmd1a landouzy dejerine muscular dystrophy landouzy-dejerine dystrophy landouzy-dejerine muscular dystrophy landouzy-dejerine myopathy landouzy-déjérine muscular dystrophy muscular dystrophy, landouzy-dejerine Facioscapulohumeral muscular dystrophy aih1 amelogenesis imperfecta caused by mutation in amelx amelogenesis imperfecta hypomaturationtype with snow-capped teeth amelogenesis imperfecta type ie amelogenesis imperfecta, type 1e, x-linked dominant amelx amelogenesis imperfecta enamel hypoplasia, x-linked 1 x-linked amelogenesis imperfecta 1 x-linked amelogenesis imperfecta hypoplastic/hypomaturation 1 Amelogenesis imperfecta type 1E aih3 aih3 ( formerly) amelogenesis imperfecta type ie x-linked 2 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked type 2 amelogenesis imperfecta, type ie, x-linked 2 enamel hypoplasia, x-linked 2 x-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 intellectual developmental disorder, x-linked syndromic, billuart type, x-linked recessive intellectual developmental disorder, x-linked, syndromic, billuart type oligophrenin-1 syndrome ophn1 syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome sca23 spinocerebellar ataxia type23 Spinocerebellar ataxia type 23 SCA28 Spinocerebellar ataxia type 28 anterior segment dysgenesis 2, multiple subtypes aphakia, congenital primary congenital absence of lens congenital aphakia Congenital primary aphakia WHO grade II oligodendroglial neoplasm WHO grade II oligodendroglial tumor WHO grade II oligodendroglial tumour well differentiated oligodendroglial tumor well differentiated oligodendroglial tumour well differentiated oligodendroglioma Oligodendroglioma West Nile fever encephalitis West Nile fever with encephalitis West Nile virus caused infectious encephalitis West Nile virus infectious encephalitis West-Nile fever west nile encephalitis West-Nile encephalitis sca27 spinocerebellar ataxia type27 Spinocerebellar ataxia type 27 dimauro disease glycogen storage disease caused by mutation in pgam2 glycogen storage disease due to phosphoglycerate mutase deficiency glycogen storage disease type 10 glycogenosis due to phosphoglycerate mutase deficiency gsd due to phosphoglycerate mutase deficiency gsd type 10 gsd x gsd x - glycogen storage disease type x pgam2 glycogen storage disease Glycogen storage disease type X gpibd1 pigm-cdg Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Sertoli-Leydig cell tumor SCA4 Spinocerebellar ataxia type 4 autosomal recessive spinocerebellar ataxia type 3 autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome autosomal recessive spinocerebellar ataxia, blindness, hearing loss syndrome autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome scabd scar3 scar3 - spinocerebellar ataxia autosomal recessive type 3 Autosomal recessive cerebellar ataxia-blindness-deafness syndrome infarction of spleen spleen infarct spleen infarction splenic infarct Splenic infarction angiosarcoma (disease) of breast breast angiosarcoma (disease) Breast angiosarcoma SCA31 Spinocerebellar ataxia type 31 SCA18 Spinocerebellar ataxia type 18 camos (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome scar5 scar5 - spinocerebellar ataxia autosomal recessive 5 CAMOS syndrome spinocerebellar ataxia, X-linked type 2 Spinocerebellar ataxia, x-linked 2 Braddock-Jones-Superneau syndrome Craniosynostosis-dandy-walker malformation-hydrocephalus syndrome spinocerebellar ataxia, x-linked type 4 x-linked ataxia dementia syndrome x-linked ataxia-dementia syndrome X-linked spinocerebellar ataxia type 4 spinocerebellar ataxia, x-linked type 3 x-linked ataxia deafness syndrome x-linked ataxia-deafness syndrome x-linked ataxia-hearing loss syndrome X-linked spinocerebellar ataxia type 3 DCLRE1C severe combined immunodeficiency (disease) SCID due to DCLRE1C deficiency SCID, Athabascan type SCID, Athabaskan type scid due to artemis deficiency severe combined immunodeficiency (disease) caused by mutation in DCLRE1C severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency due to dclre1c deficiency mandibuloacral dysostosis co-occurrent with type b lipodystrophy Mandibuloacral dysplasia with type b lipodystrophy Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy brown-vialetto-van laere syndrome disorder of riboflavin transmembrane transporter activity fazio-londe syndrome pontobulbar palsy with deafness riboflavin transmembrane transporter activity disease sensorineural hearing loss-pontobulbar palsy syndrome Riboflavin transporter deficiency clark baraitser syndrome intellectual disability, autosomal dominant 49 Clark-baraitser syndrome SCA26 Spinocerebellar ataxia type 26 SCA25 Spinocerebellar ataxia type 25 sca20 spinocerebellar ataxia type20 Spinocerebellar ataxia type 20 c10orf2-related ataxia neuropathy spectrum disorders epilepsy, progressive myoclonic, type 5 epm5 mitochondrial recessive ataxia syndrome (includes sando and scae) pme type 5 polg-related ataxia neuropathy spectrum disorders prickle2 progressive myoclonic epilepsy progressive myoclonic epilepsy caused by mutation in prickle2 progressive myoclonus epilepsy type 5 sando sando (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis SCA21 Spinocerebellar ataxia type 21