A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). disease_ontology DOID:0050155 sensory system disease A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). url:http://en.wikipedia.org/wiki/Sensory_system A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. disease_ontology DOID:0050204 Epstein-Barr virus hepatitis A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. url:https://www.ncbi.nlm.nih.gov/pubmed/16711324 url:https://www.ncbi.nlm.nih.gov/pubmed/17602362 A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. disease_ontology DOID:0050338 primary bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. url:http://en.wikipedia.org/wiki/Infectious_disease A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. disease_ontology DOID:0050340 opportunistic bacterial infectious disease A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545 A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. GARD:7910 ICD10CM:Q82.1 MESH:D014983 NCI:C3452 ORDO:910 SNOMEDCT_US_2023_03_01:44600005 UMLS_CUI:C0043346 disease_ontology DOID:0050427 OMIM mapping confirmed by DO. [SN]. xeroderma pigmentosum A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. ICD10CM:E31.22 ICD9CM:258.02 MESH:D018813 NCI:C3226 OMIM:171400 ORDO:247698 SNOMEDCT_US_2023_03_01:721188000 UMLS_CUI:C0025268 MEN2A Sipple syndrome multiple endocrine neoplasia II disease_ontology DOID:0050430 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 2A A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html url:https://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. GARD:12291 ICD10CM:Q04.3 MESH:D054082 NCI:C103921 OMIM:PS607432 ORDO:102009 SNOMEDCT_US_2023_03_01:204036008 SNOMEDCT_US_2023_03_01:23024003 UMLS_CUI:C0266463 UMLS_CUI:C0266483 disease_ontology DOID:0050453 Xref MGI. OMIM mapping confirmed by DO. [SN]. lissencephaly A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. url:http://en.wikipedia.org/wiki/Lissencephaly url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. DOID:6684 GARD:7896 ICD10CM:Q93.3 MESH:D054877 NCI:C35528 OMIM:194190 ORDO:280 SNOMEDCT_US_2023_03_01:17122004 UMLS_CUI:C0796117 UMLS_CUI:C1956097 4p deletion syndrome PITT SYNDROME Pitt-Rogers-Danks Syndrome chromosome 4p16.3 deletion syndrome disease_ontology DOID:0050460 OMIM mapping confirmed by DO. [LS]. Wolf-Hirschhorn syndrome A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. url:https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. MESH:D056266 NCI:C84696 OMIM:PS133200 ORDO:317 SNOMEDCT_US_2023_03_01:70041004 UMLS_CUI:C0265961 UMLS_CUI:C1851480 Erythrokeratodermia Figurata Variabilis Greither Disease disease_ontology DOID:0050467 OMIM mapping confirmed by DO. [SN]. erythrokeratodermia variabilis MESH:D056266 A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. url:https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. GARD:5890 ICD10CM:E78.71 MESH:D056889 NCI:C84585 OMIM:302060 SNOMEDCT_US_2023_03_01:297231002 UMLS_CUI:C0574083 3-methylglutaconicaciduria type 2 3-methylglutaconicaciduria type II MGA Type 2 MGA type II disease_ontology DOID:0050476 OMIM mapping confirmed by DO. [SN]. Barth syndrome MESH:D056889 A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. url:http://en.wikipedia.org/wiki/Barth_syndrome url:http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 url:http://www.ninds.nih.gov/disorders/barth/barth.htm url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. MESH:D014897 NCI:C156310 OMIM:253550 SNOMEDCT_US_2023_03_01:128212001 UMLS_CUI:C0393538 MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE SMA II SMA2 spinal muscular atrophy 2 spinal muscular atrophy type II disease_ontology DOID:0050530 OMIM mapping confirmed by DO. [SN]. intermediate spinal muscular atrophy A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. url:https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2 A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance. MESH:C536911 OMIM:155240 THYROID CARCINOMA, FAMILIAL MEDULLARY disease_ontology DOID:0050547 OMIM mapping confirmed by DO. [SN]. familial medullary thyroid carcinoma A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance. url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:https://www.omim.org/entry/155240 A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. MESH:D009477 OMIM:PS162400 familial dysautonomia, type II hereditary sensory and autonomic neuropathy disease_ontology DOID:0050548 Xref MGI. OMIM mapping confirmed by DO. [SN]. hereditary sensory neuropathy A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. url:http://omim.org/entry/616488?search=616488&highlight=616488 A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. GARD:2599 MESH:D058494 HARD syndrome cerebroocular dysplasia-muscular dystrophy syndrome disease_ontology DOID:0050560 OMIM mapping confirmed by DO. [SN]. Walker-Warburg syndrome A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. url:https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. MESH:C535747 OMIM:PS212066 disease_ontology DOID:0050571 OMIM mapping confirmed by DO. [SN]. congenital disorder of glycosylation type II A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. GARD:5661 OMIM:PS600721 disease_ontology DOID:0050575 D-2-hydroxyglutaric aciduria An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. GARD:13388 OMIM:PS608594 disease_ontology DOID:0050585 OMIM mapping confirmed by DO. [SN]. congenital generalized lipodystrophy A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. url:https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy An intestinal disease characterized by inflammation located in all parts of digestive tract. EFO:0003767 KEGG:05321 MESH:D015212 NCI:C3138 OMIM:PS266600 SNOMEDCT_US_2023_03_01:155759008 UMLS_CUI:C0021390 disease_ontology DOID:0050589 Xref MGI. OMIM mapping confirmed by DO. [SN]. inflammatory bowel disease An intestinal disease characterized by inflammation located in all parts of digestive tract. url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908 An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. DOID:0050761 GARD:656 ICD10CM:E85.82 OMIM:105210 ORDO:85447 ATTR amyloidosis ATTRm amyloidosis Amyloidosis, hereditary, transthyretin-related Corino de Andrade's disease Familial transthyretin amyloidosis TTR amyloidosis familial amyloid polyneuropathy paramyloidosis transthyretin-related hereditary amyloidosis disease_ontology DOID:0050638 OMIM mapping confirmed by DO. [SN]. transthyretin amyloidosis An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis url:http://www.ncbi.nlm.nih.gov/books/NBK1194/ url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 url:http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25 url:https://www.ncbi.nlm.nih.gov/books/NBK1194/ url:https://www.ncbi.nlm.nih.gov/pubmed/19372706 A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. GARD:2322 MESH:D058249 OMIM:135150 disease_ontology DOID:0050676 OMIM mapping confirmed by DO. [SN]. Birt-Hogg-Dube syndrome A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. lschriml 2012-01-03T02:54:11Z ICD10CM:I42 ICD9CM:425 ICD9CM:425.9 MESH:D009202 NCI:C34830 NCI:C53654 SNOMEDCT_US_2023_03_01:266301006 SNOMEDCT_US_2023_03_01:89461002 SNOMEDCT_US_2023_03_01:89600009 UMLS_CUI:C0033141 UMLS_CUI:C0036529 UMLS_CUI:C0878544 Cardiomyopathies disease_ontology DOID:0050700 MESH:D009202 added from NeuroDevNet [WAK]. cardiomyopathy A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. url:http://en.wikipedia.org/wiki/Cardiomyopathy url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. lschriml 2012-09-05T11:48:42Z KEGG:05034 OMIM:103780 SNOMEDCT_US_2021_09_01:66590003 alcoholism disease_ontology DOID:0050741 alcohol dependence A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. url:https://en.wikipedia.org/wiki/Alcohol_dependence An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. GARD:10499 OMIM:608627 ALS8 amyotrophic lateral sclerosis 8 disease_ontology DOID:0050752 amyotrophic lateral sclerosis type 8 An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://omim.org/entry/608627 A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. lschriml 2013-01-17T12:46:38Z OMIM:PS208085 ORDO:2697 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome Arthrogryposis-renal dysfunction-cholestasis disease_ontology DOID:0050763 ARC syndrome A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/16896922 url:https://www.ncbi.nlm.nih.gov/pubmed/22753090 url:https://www.ncbi.nlm.nih.gov/pubmed/24415890 A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. lschriml 2013-02-21T12:06:40Z OMIM:300716 OMIM:PS309530 ORDO:777 non-specific X-linked mental retardation disease_ontology DOID:0050776 Xref MGI. non-syndromic X-linked intellectual disability A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. url:https://www.ncbi.nlm.nih.gov/pubmed/7011032 A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. lschriml 2013-06-24T12:50:06Z GARD:6683 ICD10CM:Q87.8 MESH:C536079 OMIM:PS236680 ORDO:2189 Salonen-Herva-Norio syndrome disease_ontology DOID:0050779 Xref MGI. hydrolethalus syndrome A syndrome characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1 url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33 url:https://www.ncbi.nlm.nih.gov/pubmed/15843405 A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. lschriml 2013-11-12T11:25:28Z GARD:3065 MESH:C537702 OMIM:174900 disease_ontology DOID:0050787 juvenile polyposis syndrome A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. url:http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome url:http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome url:http://www.ncbi.nlm.nih.gov/books/NBK1469/ A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. lschriml 2014-02-24T10:14:57Z GARD:10037 MESH:C536841 OMIM:604218 FENIB disease_ontology DOID:0050831 familial encephalopathy with neuroserpin inclusion bodies A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. url:http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies url:http://www.jbc.org/content/277/19/17367 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. lschriml 2014-03-18T11:58:38Z GARD:29 MESH:D058747 NCI:C75100 OMIM:214800 ORDO:138 SNOMEDCT_US_2023_03_01:47535005 UMLS_CUI:C0265354 UMLS_CUI:C2936502 CHARGE association disease_ontology DOID:0050834 CHARGE syndrome MESH:D058747 A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. url:http://en.wikipedia.org/wiki/CHARGE_syndrome url:http://ghr.nlm.nih.gov/condition/charge-syndrome url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract A dystonia that affects most or all of the body. lschriml 2014-03-18T01:13:36Z DOID:11910 DOID:11911 DOID:11912 DOID:14164 DOID:5159 DOID:531 ICD10CM:G24.1 ICD10CM:G24.2 ICD9CM:333.6 ICD9CM:333.8 MESH:D004422 MESH:D020821 NCI:C34564 NCI:C35437 NCI:C35438 NCI:C35527 SNOMEDCT_US_2023_03_01:192852006 SNOMEDCT_US_2023_03_01:192859002 SNOMEDCT_US_2023_03_01:22451001 SNOMEDCT_US_2023_03_01:230321007 SNOMEDCT_US_2023_03_01:267584007 UMLS_CUI:C0013423 UMLS_CUI:C0154674 UMLS_CUI:C0154675 UMLS_CUI:C0393598 UMLS_CUI:C0393601 UMLS_CUI:C0752207 familial dystonia fragments of torsion dystonia disease_ontology Dystonia 12 DOID:0050835 MESH:C538001 added from NeuroDevNet [WAK]. generalized dystonia A dystonia that affects most or all of the body. url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm Dystonia 12 MESH:C538001 A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. lschriml 2014-08-04T01:52:12Z OMIM:300623 FXTAS syndrome disease_ontology DOID:0050879 fragile X-associated tremor/ataxia syndrome A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. url:http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome url:http://omim.org/entry/300623 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256 url:https://www.ncbi.nlm.nih.gov/pubmed/18195136 A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. lschriml 2014-08-06T12:57:12Z DOID:0070076 GARD:10727 OMIM:610443 ORDO:96169 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KdVS Koolen-De Vries syndrome disease_ontology DOID:0050880 Koolen de Vries syndrome A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. url:http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome url:http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome url:http://omim.org/entry/610443 url:http://www.17q21.com/en/ url:http://www.ncbi.nlm.nih.gov/books/NBK24676/ url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169 url:https://www.ncbi.nlm.nih.gov/pubmed/19447831 url:https://www.ncbi.nlm.nih.gov/pubmed/22544363 url:https://www.ncbi.nlm.nih.gov/pubmed/22544367 A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. lschriml 2014-08-06T02:30:16Z MESH:C563476 OMIM:PS167320 ORDO:52430 IBMPFD inclusion body myopathy with Paget's disease of bone and frontotemporal dementia disease_ontology DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. url:http://omim.org/entry/167320 url:https://www.ncbi.nlm.nih.gov/pubmed/19380227 url:https://www.ncbi.nlm.nih.gov/pubmed/21304887 url:https://www.ncbi.nlm.nih.gov/pubmed/21892620 An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. lschriml 2014-08-06T03:51:03Z GARD:4953 OMIM:600224 disease_ontology DOID:0050882 spinocerebellar ataxia type 5 An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766 url:https://www.ncbi.nlm.nih.gov/pubmed/20368622 A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. lschriml 2014-08-06T04:09:42Z GARD:13264 OMIM:614559 disease_ontology DOID:0050883 infantile cerebellar-retinal degeneration A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. url:http://omim.org/entry/614559 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 url:http://www.uniprot.org/diseases/DI-03409 url:https://www.ncbi.nlm.nih.gov/pubmed/22405087 url:https://www.ncbi.nlm.nih.gov/pubmed/23438437 A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. lschriml 2014-08-07T11:44:31Z GARD:5287 MESH:C566029 OMIM:615512 Triose phosphate-isomerase deficiency disease_ontology DOID:0050884 triosephosphate isomerase deficiency A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. url:http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency url:http://omim.org/entry/615512 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport url:https://www.ncbi.nlm.nih.gov/pubmed/16980388 url:https://www.ncbi.nlm.nih.gov/pubmed/17424909 url:https://www.ncbi.nlm.nih.gov/pubmed/23318931 A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. lschriml 2014-08-07T12:04:30Z GARD:12312 OMIM:614732 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities disease_ontology DOID:0050885 IMAGe syndrome A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. url:http://omim.org/entry/614732 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173 url:https://www.ncbi.nlm.nih.gov/pubmed/14760276 url:https://www.ncbi.nlm.nih.gov/pubmed/22634751 url:https://www.ncbi.nlm.nih.gov/pubmed/23719190 url:https://www.ncbi.nlm.nih.gov/pubmed/24065356 A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. lschriml 2014-08-07T12:18:56Z GARD:5372 ICD10CM:G11.4 OMIM:275900 ORDO:101000 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 hereditary spastic paraplegia 20 spastic paraplegia 20 spastic paraplegia type 20 disease_ontology DOID:0050886 Troyer syndrome A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. url:http://en.wikipedia.org/wiki/SPG20 url:http://ghr.nlm.nih.gov/condition/troyer-syndrome url:http://ghr.nlm.nih.gov/gene/SPG20 url:http://omim.org/entry/275900 url:http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple url:https://www.ncbi.nlm.nih.gov/pubmed/20301556 A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. lschriml 2014-08-11T03:58:35Z GARD:7784 MESH:C536974 OMIM:107480 disease_ontology DOID:0050887 Townes-Brocks syndrome A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. url:http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome url:http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome url:http://www.omim.org/entry/107480 url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple url:https://www.ncbi.nlm.nih.gov/pubmed/12925729 An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. lschriml 2014-08-14T10:55:32Z disease_ontology DOID:0050888 syndromic intellectual disability An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. url:http://en.wikipedia.org/wiki/Intellectual_disability A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. lschriml 2014-08-14T03:29:17Z Synucleinopathies alpha Synucleinopathies disease_ontology DOID:0050890 synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. url:http://en.wikipedia.org/wiki/Synucleinopathies A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. GARD:10248 MESH:D000067877 disease_ontology DOID:0060041 autism spectrum disorder A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. url:http://en.wikipedia.org/wiki/Autism_spectrum_disorder url:http://www.neurodevnet.ca url:https://www.genome.gov/Genetic-Disorders/Autism An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. disease_ontology DOID:0060050 autoimmune disease of blood An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. url:https://www.ncbi.nlm.nih.gov/books/NBK459447/ ls:IEDB A benign neoplasm that is classified by the organ system from which it is arising from. lschriml 2011-07-14T12:12:23Z disease_ontology DOID:0060085 organ system benign neoplasm A benign neoplasm that is classified by the organ system from which it is arising from. url:http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367 A brain cancer that has_material_basis_in glial cells. lschriml 2011-07-22T12:42:50Z lower grade glioma disease_ontology DOID:0060108 brain glioma A brain cancer that has_material_basis_in glial cells. url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma url:http://www.cancer.gov/dictionary?CdrID=45700 A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. lschriml 2011-08-29T01:15:14Z GARD:7674 MESH:D014897 NCI:C85076 ORDO:70 UMLS_CUI:C0700595 spinal muscular atrophies of childhood survival motor neuron spinal muscular atrophy disease_ontology DOID:0060160 childhood spinal muscular atrophy A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. lschriml 2011-08-29T01:31:03Z GARD:6818 MESH:D055534 NCI:C85233 OMIM:313200 SNOMEDCT_US_2023_03_01:230253001 UMLS_CUI:C1839259 Kennedy disease SBMA Spinobulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-linked Spinal and Bulbar Muscular Atrophy spinal bulbar muscular atrophy disease_ontology DOID:0060161 Kennedy's disease A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. url:http://en.wikipedia.org/wiki/Kennedy_disease An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. lschriml 2011-08-29T01:41:48Z GARD:5643 MESH:D020191 NCI:C122653 OMIM:125370 SNOMEDCT_US_2023_03_01:702422004 UMLS_CUI:C0751781 DRPLA Haw River Syndrome Naito-Oyanagi disease disease_ontology DOID:0060162 dentatorubral-pallidoluysian atrophy MESH:D020191 NCI:C122653 UMLS_CUI:C0751781 An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. lschriml 2011-10-28T02:57:50Z ICD10CM:G40.3 MESH:C565808 ORDO:36387 GEFS+ disease_ontology DOID:0060170 Xref MGI. generalized epilepsy with febrile seizures plus An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. url:https://www.ncbi.nlm.nih.gov/pubmed/22011963 A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. lschriml 2011-11-08T02:54:32Z GARD:10975 ICD10CM:G43.8 ICD9CM:346.8 ORDO:569 SNOMEDCT_US_2023_03_01:193037008 UMLS_CUI:C0477373 disease_ontology DOID:0060178 Xref MGI. familial hemiplegic migraine A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. url:http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. lschriml 2011-11-08T03:21:30Z ICD10CM:Q87.5 OMIM:309500 ORDO:3242 Golabi-Ito-Hall syndrome Sutherland-Haan X-linked mental retardation syndrome X-linked intellectual disability due to PQBP1 mutations X-linked intellectual disability, Renpenning type X-linked mental retardation Renpenning type X-linked mental retardation with spastic diplegia syndromic X-linked mental retardation 8 disease_ontology DOID:0060179 Renpenning syndrome An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. url:http://en.wikipedia.org/wiki/Renpenning%27s_syndrome A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. emitraka 2015-01-27T14:10:42Z ICD10CM:E79.8 OMIM:PS278300 ORDO:3467 SNOMEDCT_US_2023_03_01:190919008 UMLS_CUI:C0220988 classic xanthinuria hereditary xanthinuria xanthine dehydrogenase deficiency xanthine oxidase deficiency disease_ontology DOID:0060236 NT MGI. xanthinuria A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. url:http://en.wikipedia.org/wiki/Xanthinuria url:https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/ url:https://www.ncbi.nlm.nih.gov/pubmed/4369449 A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. emitraka 2015-05-11T10:31:37Z MESH:C537943 OMIM:609528 ORDO:66631 SNOMEDCT_US_2023_03_01:722385008 UMLS_CUI:C1836033 cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome disease_ontology DOID:0060337 Flybase. CEDNIK syndrome A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. url:https://www.ncbi.nlm.nih.gov/pubmed/21073448 A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. elvira 2015-07-14T16:24:56Z OMIM:615157 MC3DN2 disease_ontology DOID:0060351 mitochondrial complex III deficiency nuclear type 2 A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. url:http://www.omim.org/entry/615157 url:https://www.ncbi.nlm.nih.gov/pubmed/21278747 A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. elvira 2015-07-14T16:49:09Z DOID:0070075 GARD:8672 MESH:C563043 NCI:C129976 OMIM:610253 ORDO:261494 UMLS_CUI:C0795833 9q subtelomeric deletion syndrome 9q-syndrome 9q34 deletion syndrome disease_ontology DOID:0060352 Kleefstra syndrome 1 A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15264279 url:https://www.ncbi.nlm.nih.gov/pubmed/16826528 url:https://www.ncbi.nlm.nih.gov/pubmed/21245904 An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. elvira 2015-09-17T15:45:20Z OMIM:307030 ORDO:408 SNOMEDCT_US_2023_03_01:297256008 UMLS_CUI:C0574108 disease_ontology DOID:0060363 glycerol kinase deficiency An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/22427807 A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. GARD:4372 MESH:C537403 NCI:C129872 OMIM:610954 ORDO:2896 SNOMEDCT_US_2023_03_01:702344008 UMLS_CUI:C1970431 disease_ontology DOID:0060488 Pitt-Hopkins syndrome A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/17436255 url:https://www.ncbi.nlm.nih.gov/pubmed/26621827 url:https://www.ncbi.nlm.nih.gov/pubmed/728011 A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. lschriml 2015-11-10T16:59:22Z DOID:0110286 ICD10CM:G71.0 OMIM:601419 ORDO:363543 autosomal recessive limb-girdle muscular dystrophy type 2R desminopathy disease_ontology DOID:0080092 myofibrillar myopathy 1 A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. url:https://www.ncbi.nlm.nih.gov/pubmed/23687351 url:https://www.omim.org/entry/601419 A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. DOID:0060171 GARD:10430 OMIM:607208 ORDO:33069 DEE6 DEE6A developmental and epileptic encephalopathy 6 developmental and epileptic encephalopathy 6A early infantile epileptic encephalopathy 6 severe myoclonic epilepsy of infancy disease_ontology DOID:0080422 Dravet syndrome A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. url:https://pubmed.ncbi.nlm.nih.gov/27544470/ url:https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/11359211 A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. OMIM:PS610253 disease_ontology DOID:0080597 Kleefstra syndrome A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. url:http://ghr.nlm.nih.gov/condition/kleefstra-syndrome A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. DOID:0050756 GARD:5897 ICD10CM:E75.4 OMIM:204200 ORDO:228346 Batten disease CLN3 juvenile neuronal ceroid lipofuscinosis disease_ontology DOID:0110731 neuronal ceroid lipofuscinosis 3 A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. url:https://ghr.nlm.nih.gov/condition/cln3-disease url:https://www.ncbi.nlm.nih.gov/pubmed/15965709 url:https://www.ncbi.nlm.nih.gov/pubmed/7553855 An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. DOID:11053 DOID:12112 DOID:12114 ICD10CM:H90.5 ICD9CM:389.1 MESH:D006319 NCI:C26739 SNOMEDCT_US_2023_03_01:60700002 UMLS_CUI:C0018784 High Frequency Hearing Loss High frequency deafness Perceptive deafness Perceptive hearing loss Perceptive hearing loss or deafness Sensorineural Deafness Sensory hearing loss central hearing loss high-frequency hearing loss disease_ontology DOID:10003 sensorineural hearing loss MESH:D006319 An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. url:https://medlineplus.gov/ency/article/003291.htm A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. ICD10CM:E31.23 ICD9CM:258.03 MESH:D018814 NCI:C3227 OMIM:162300 ORDO:247709 SNOMEDCT_US_2023_03_01:61530001 UMLS_CUI:C0025269 MEN type IIB MEN2B Multiple endocrine neoplasia, type 3 Wagenmann-Froboese syndrome mucosal neuroma syndrome disease_ontology DOID:10016 OMIM mapping confirmed by DO. [SN]. multiple endocrine neoplasia type 2B A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html url:https://www.ncbi.nlm.nih.gov/pubmed/15965261 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract A male reproductive organ cancer that is located_in the prostate. DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 SNOMEDCT_US_2023_03_01:126906006 SNOMEDCT_US_2023_03_01:93974005 UMLS_CUI:C0033578 UMLS_CUI:C0376358 NGP - new growth of prostate hereditary prostate cancer malignant tumor of the prostate prostate cancer, familial prostate neoplasm prostatic cancer prostatic neoplasm tumor of the prostate disease_ontology DOID:10283 Xref MGI. OMIM mapping confirmed by DO. [SN]. prostate cancer A male reproductive organ cancer that is located_in the prostate. url:http://www.cancer.gov/dictionary?CdrID=445079 url:https://www.genome.gov/Genetic-Disorders/Prostate-Cancer A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. ICD10CM:A49.9 MESH:D001424 NCI:C2890 SNOMEDCT_US_2023_03_01:87628006 UMLS_CUI:C0004623 disease_ontology DOID:104 bacterial infectious disease A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. url:http://en.wikipedia.org/wiki/Pathogenic_bacteria A gastrointestinal system cancer that is located_in the stomach. DOID:10539 DOID:10542 DOID:10543 DOID:4713 GARD:7704 ICD10CM:C16 ICD10CM:C16.2 ICD10CM:C16.5 ICD10CM:C16.6 ICD9CM:151 ICD9CM:151.4 ICD9CM:151.5 ICD9CM:151.6 MESH:D013274 NCI:C3387 NCI:C9331 OMIM:613659 SNOMEDCT_US_2023_03_01:126824007 SNOMEDCT_US_2023_03_01:269459004 SNOMEDCT_US_2023_03_01:269460009 SNOMEDCT_US_2023_03_01:93717002 SNOMEDCT_US_2023_03_01:94074003 UMLS_CUI:C0024623 UMLS_CUI:C0038356 UMLS_CUI:C0153421 UMLS_CUI:C0153422 UMLS_CUI:C0153423 gastric cancer gastric neoplasm disease_ontology DOID:10534 OMIM mapping confirmed by DO. [SN]. stomach cancer A gastrointestinal system cancer that is located_in the stomach. url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer url:http://en.wikipedia.org/wiki/Stomach A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. DOID:14742 GARD:5694 ICD10CM:H35.52 MESH:C538365 MESH:D012174 NCI:C85045 OMIM:PS268000 ORDO:791 SNOMEDCT_US_2023_03_01:155113002 UMLS_CUI:C0035334 UMLS_CUI:C0220701 pericentral pigmentary retinopathy disease_ontology DOID:10584 Xref MGI. OMIM mapping confirmed by DO. [LS]. retinitis pigmentosa A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. url:http://en.wikipedia.org/wiki/Retinitis_pigmentosa url:http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ url:https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. NCI:C84392 SNOMEDCT_US_2023_03_01:1855002 UMLS_CUI:C0025362 disease_ontology mental retardation DOID:1059 OMIM mapping submitted by NeuroDevNet. [LS]. intellectual disability A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. url:http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU url:https://en.wikipedia.org/wiki/Intellectual_disability A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. GARD:6034 ICD10CM:G60.0 ICD9CM:356.1 MESH:D002607 NCI:C75467 OMIM:PS118220 SNOMEDCT_US_2023_03_01:193158000 UMLS_CUI:C0007959 CMT - Charcot-Marie-Tooth disease disease_ontology DOID:10595 Charcot-Marie-Tooth disease A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. url:https://www.genome.gov/11009201 url:https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. GARD:3603 GARD:7038 ICD10CM:Q02 ICD9CM:742.1 MESH:D008831 NCI:C85874 SNOMEDCT_US_2023_03_01:156893009 UMLS_CUI:C0025958 Microcephalus microencephaly disease_ontology DOID:10907 OMIM mapping confirmed by DO. [SN]. microcephaly MESH:D008831 A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. url:https://en.wikipedia.org/wiki/Microcephaly A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. DOID:4544 ICD10CM:R41.3 ICD9CM:294.0 MESH:D000647 NCI:C2867 SNOMEDCT_US_2023_03_01:247606008 SNOMEDCT_US_2023_03_01:3298001 UMLS_CUI:C0002622 UMLS_CUI:C0002625 Amnestic syndrome Korsakoff's psychosis or syndrome amnesia disease_ontology DOID:10914 amnestic disorder A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. url:http://en.wikipedia.org/wiki/Amnesia url:http://www.minddisorders.com/A-Br/Amnestic-disorders.html A cardiovascular system disease that involves the heart. ICD10CM:I51.9 ICD9CM:429.9 MESH:D006331 NCI:C3079 SNOMEDCT_US_2023_03_01:194707003 UMLS_CUI:C0018799 disease_ontology DOID:114 heart disease A cardiovascular system disease that involves the heart. url:http://en.wikipedia.org/wiki/Heart_disease A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life. ICD10CM:P70.2 ICD9CM:775.1 NCI:C99248 SNOMEDCT_US_2023_03_01:49817004 UMLS_CUI:C0158981 diabetes mellitus syndrome in newborn infant neonatal diabetes mellitus disease_ontology DOID:11717 neonatal diabetes A diabetes mellitus that is characterized by hyperglycemia occuring within the first 6 months of life. url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/ ICD10CM:G71.09 MESH:D039141 NCI:C84942 OMIM:164300 SNOMEDCT_US_2023_03_01:77097004 UMLS_CUI:C0270952 Muscular dystrophy, oculopharyngeal disease_ontology DOID:11719 OMIM mapping confirmed by DO. [SN]. oculopharyngeal muscular dystrophy A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. GARD:8310 ICD10CM:G71.11 ICD9CM:359.21 MESH:D009223 NCI:C84914 OMIM:160900 SNOMEDCT_US_2023_03_01:1177122009 UMLS_CUI:C0027126 Dystrophia myotonica Steinert disease congenital myotonic dystrophy myotonic dystrophy of Steinert disease_ontology DOID:11722 OMIM mapping confirmed by DO. [SN]. myotonic dystrophy type 1 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. url:http://en.wikipedia.org/wiki/Myotonic_dystrophy url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://omim.org/entry/160900 url:http://www.genome.gov/25521207 url:http://www.ncbi.nlm.nih.gov/books/NBK1165/ A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. GARD:6291 MESH:D020388 NCI:C75482 OMIM:310200 SNOMEDCT_US_2023_03_01:155095006 UMLS_CUI:C0013264 Muscular dystrophy, Duchenne disease_ontology DOID:11723 OMIM mapping confirmed by DO. [SN]. Duchenne muscular dystrophy A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. url:http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy url:http://omim.org/entry/300377 url:http://www.genome.gov/19518854 GARD:9941 ICD10CM:G71.02 MESH:D020391 NCI:C84704 SNOMEDCT_US_2023_03_01:56096001 UMLS_CUI:C0238288 Landouzy Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy Muscular dystrophy, Landouzy-Dejerine disease_ontology DOID:11727 OMIM mapping confirmed by DO. [SN]. facioscapulohumeral muscular dystrophy A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. GARD:7674 ICD10CM:G12.9 ICD9CM:335.1 MESH:D009134 NCI:C85075 SNOMEDCT_US_2023_03_01:5262007 UMLS_CUI:C0026847 disease_ontology DOID:12377 spinal muscular atrophy A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. url:http://en.wikipedia.org/wiki/Spinal_muscular_atrophy url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy url:https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy url:https://www.ncbi.nlm.nih.gov/pubmed/26022173 An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. GARD:5862 MESH:D001260 NCI:C2887 OMIM:208900 SNOMEDCT_US_2023_03_01:68504005 UMLS_CUI:C0004135 Boder-Sedgwick syndrome Louis Bar syndrome disease_ontology DOID:12704 OMIM mapping confirmed by DO. [SN]. ataxia telangiectasia MESH:D001260 An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. url:https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia DOID:0050555 GARD:6468 ICD10CM:G11.11 ICD9CM:334.0 MESH:D005621 NCI:C84718 SNOMEDCT_US_2023_03_01:155011003 UMLS_CUI:C0016719 Friedreich's ataxia Friedreich's tabes disease_ontology DOID:12705 Xref MGI. Friedreich ataxia MESH:D005621 A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. GARD:6677 ICD10CM:G10 ICD9CM:333.4 KEGG:05016 MESH:D006816 NCI:C82342 OMIM:143100 SNOMEDCT_US_2023_03_01:58756001 UMLS_CUI:C0020179 HD Huntington disease Huntington's chorea disease_ontology DOID:12858 Huntington's disease A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. url:http://en.wikipedia.org/wiki/Huntington_disease url:http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple A central nervous system disease that results in the progressive deterioration of function or structure of neurons. DOID:4874 ICD10CM:G31.9 MESH:D019636 NCI:C27090 SNOMEDCT_US_2023_03_01:362975008 UMLS_CUI:C0524851 UMLS_CUI:C1285162 degenerative disease disease_ontology DOID:1289 neurodegenerative disease A central nervous system disease that results in the progressive deterioration of function or structure of neurons. url:http://en.wikipedia.org/wiki/Degenerative_disease url:http://en.wikipedia.org/wiki/Neurodegeneration An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. EFO:0000407 GARD:221 ICD10CM:I42.0 KEGG:05414 MESH:D002311 NCI:C84673 OMIM:PS115200 ORDO:217604 SNOMEDCT_US_2023_03_01:74368002 UMLS_CUI:C0007193 primary dilated cardiomyopathy disease_ontology Congestive cardiomyopathy Familial dilated cardiomyopathy Idiopathic dilation cardiomyopathy DOID:12930 Xref MGI. OMIM mapping confirmed by DO. [LS]. dilated cardiomyopathy An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. url:http://en.wikipedia.org/wiki/Dilated_cardiomyopathy Familial dilated cardiomyopathy MESH:C536231 Idiopathic dilation cardiomyopathy MESH:C536277 A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. DOID:2125 DOID:2126 DOID:3543 DOID:6649 DOID:911 ICD10CM:C71 ICD9CM:191 ICD9CM:239.6 MESH:D001932 NCI:C170814 NCI:C2907 NCI:C3568 NCI:C5115 NCI:C7710 SNOMEDCT_US_2023_03_01:126952004 SNOMEDCT_US_2023_03_01:428061005 SNOMEDCT_US_2023_03_01:93727008 UMLS_CUI:C0006118 UMLS_CUI:C0153633 UMLS_CUI:C0220624 UMLS_CUI:C0750974 UMLS_CUI:C0750979 UMLS_CUI:C1334557 BT - Brain tumour adult brain tumor adult malignant brain neoplasm brain neoplasm brain neoplasm, adult malignant brain tumour malignant primary brain neoplasm malignant primary brain tumor malignant tumor of Brain malignant tumor of adult brain neoplasm of brain primary brain neoplasm primary brain tumor primary malignant neoplasm of brain tumor of the Brain disease_ontology DOID:1319 brain cancer A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. url:http://www.cancer.gov/dictionary?CdrID=387264 A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. GARD:5784 ICD10CM:E88.01 ICD9CM:273.4 MESH:D019896 NCI:C84397 OMIM:613490 SNOMEDCT_US_2023_03_01:30188007 UMLS_CUI:C0221757 AAT deficiency disease_ontology DOID:13372 OMIM mapping confirmed by DO. [SN]. alpha 1-antitrypsin deficiency MESH:D019896 A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. url:http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency url:http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm url:https://alpha1.org/what-is-alpha1/ url:https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. GARD:6445 ICD10CM:M61.1 ICD9CM:728.11 MESH:D009221 NCI:C3040 OMIM:135100 ORDO:337 SNOMEDCT_US_2023_03_01:82725007 UMLS_CUI:C0016037 Stone Man Syndrome myositis ossificans progressiva progressive myositis ossificans progressive ossifying myositis disease_ontology DOID:13374 OMIM mapping confirmed by DO. [SN]. fibrodysplasia ossificans progressiva A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. url:http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva url:http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ url:https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. GARD:7830 ICD10CM:Q85.1 ICD9CM:759.5 MESH:D014402 NCI:C3424 OMIM:PS191100 SNOMEDCT_US_2023_03_01:157033002 UMLS_CUI:C0041341 Bourneville's disease Epiloia Tuberose sclerosis Tuberous sclerosis syndrome cerebral sclerosis disease_ontology DOID:13515 OMIM mapping confirmed by DO. [LS]. tuberous sclerosis A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. url:https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. GARD:6425 ICD10CM:D61.09 MESH:D005199 NCI:C62505 OMIM:PS227650 ORDO:84 SNOMEDCT_US_2023_03_01:30575002 UMLS_CUI:C0015625 Fanconi anaemia Fanconi pancytopenia Fanconi panmyelopathy Fanconi's anaemia Fanconi's anemia disease_ontology DOID:13636 Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS]. Fanconi anemia A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. url:http://en.wikipedia.org/wiki/Fanconi_anemia url:http://ghr.nlm.nih.gov/condition/fanconi-anemia url:http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. ICD10CM:A69.22 MESH:D011115 NCI:C26951 SNOMEDCT_US_2023_03_01:193166009 UMLS_CUI:C0152025 disease_ontology DOID:1389 polyneuropathy A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. url:https://en.wikipedia.org/wiki/Polyneuropathy url:https://www.virginiamason.org/polyneuropathy GARD:7855 ICD10CM:Q85.83 MESH:D006623 NCI:C3105 OMIM:193300 SNOMEDCT_US_2023_03_01:46659004 UMLS_CUI:C0019562 Hippel Lindau syndrome von Hippel-Lindau syndrome disease_ontology DOID:14175 OMIM mapping confirmed by DO. [LS]. von Hippel-Lindau disease A male infertility disease characterized by the absence of any measurable level of sperm in semen. EFO:0000279 ICD10CM:N46.0 ICD9CM:606.0 MESH:D053713 NCI:C80076 ORDO:217034 SNOMEDCT_US_2023_03_01:145008007 UMLS_CUI:C0004509 disease_ontology DOID:14227 Xref MGI. azoospermia MESH:D053713 A male infertility disease characterized by the absence of any measurable level of sperm in semen. url:http://en.wikipedia.org/wiki/Azoospermia url:http://ghr.nlm.nih.gov/glossary=azoospermia A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. GARD:10247 ICD10CM:Q90 ICD9CM:758.0 MESH:D004314 NCI:C2993 OMIM:190685 ORDO:870 SNOMEDCT_US_2023_03_01:41040004 UMLS_CUI:C0013080 Complete trisomy 21 syndrome Down's syndrome Down's syndrome - trisomy 21 Downs syndrome G Trisomy trisomy 21 syndrome disease_ontology DOID:14250 OMIM mapping confirmed by DO. [SN]. Down syndrome A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. url:http://en.wikipedia.org/wiki/Down_syndrome url:http://ghr.nlm.nih.gov/condition/down-syndrome url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx url:http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome url:https://research.nhgri.nih.gov/atlas/condition/trisomy-21 A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. GARD:6464 ICD10CM:Q99.2 ICD9CM:759.83 MESH:D005600 NCI:C84717 OMIM:300624 ORDO:908 SNOMEDCT_US_2023_03_01:390007001 UMLS_CUI:C0016667 FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME MARTIN-BELL SYNDROME disease_ontology DOID:14261 OMIM mapping confirmed by DO. [SN]. fragile X syndrome A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. url:http://en.wikipedia.org/wiki/Fragile_X_syndrome url:http://omim.org/entry/300624 url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908 An eye disease characterized by a lack or loss of vision. ICD10CM:H54 ICD9CM:369 SNOMEDCT_US_2023_03_01:193698004 UMLS_CUI:C0155020 vision impairment vision loss visual impairment disease_ontology DOID:1432 blindness An eye disease characterized by a lack or loss of vision. url:https://en.wikipedia.org/wiki/Visual_impairment url:https://nei.nih.gov/eyedata/blind url:https://www.cdc.gov/healthcommunication/toolstemplates/entertainmented/tips/Blindness.html A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. GARD:10251 ICD10CM:G20 ICD9CM:332 KEGG:05012 MESH:D010300 NCI:C26845 OMIM:PS168600 ORDO:2828 SNOMEDCT_US_2023_03_01:49049000 UMLS_CUI:C0030567 Parkinson disease paralysis agitans disease_ontology DOID:14330 Xref MGI. OMIM mapping confirmed by DO. [SN]. Parkinson's disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. url:http://en.wikipedia.org/wiki/Parkinson%27s_disease url:https://pubmed.ncbi.nlm.nih.gov/26474316/ url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877503/ An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. MESH:D017827 NCI:C84830 OMIM:109150 SNOMEDCT_US_2023_03_01:91952008 UMLS_CUI:C0024408 Azorean disease MJD SCA3 spinocerebellar ataxia 3 spinocerebellar ataxia type 3 disease_ontology DOID:1440 OMIM mapping confirmed by DO. [SN]. Machado-Joseph disease MESH:D017827 An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. url:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease url:http://omim.org/entry/109150 url:http://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. DOID:2478 MESH:D020754 NCI:C82341 OMIM:PS164400 ORDO:94 SNOMEDCT_US_2023_03_01:129609000 UMLS_CUI:C0087012 spinocerebellar ataxia disease_ontology DOID:1441 autosomal dominant cerebellar ataxia A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. url:http://www.ncbi.nlm.nih.gov/books/NBK1138/ url:http://www.ncbi.nlm.nih.gov/books/NBK22234/ GARD:10739 ICD10CM:E75.4 MESH:D009472 NCI:C61257 OMIM:PS256730 ORDO:216 ORDO:79262 SNOMEDCT_US_2023_03_01:42012007 UMLS_CUI:C0027877 hereditary ceroid lipofuscinosis disease_ontology DOID:14503 Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS]. neuronal ceroid lipofuscinosis A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. DOID:0050442 DOID:0050443 DOID:14770 GARD:13334 ICD10CM:E75.24 MESH:D009542 NCI:C61269 SNOMEDCT_US_2023_03_01:58459009 UMLS_CUI:C0028064 Sphingomyelinase Deficiency Disease lipoid histiocytosis sphingomyelin lipidosis disease_ontology DOID:14504 OMIM mapping confirmed by DO. [SN]. Niemann-Pick disease A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. url:https://en.wikipedia.org/wiki/Niemann-Pick_disease url:https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease A disease that is characterized by abnormally rapid cell division. neoplasm DOID:0000818 cell process disease neoplasm disease_ontology DOID:14566 disease of cellular proliferation A disease that is characterized by abnormally rapid cell division. url:http://en.wikipedia.org/w/index.php?title=Cell_proliferation A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. GARD:10147 MEDDRA:10071135 MESH:D019280 NCI:C98983 SNOMEDCT_US_2023_03_01:290006 UMLS_CUI:C0265234 Branchio-Oto-renal syndrome Branchio-otorenal dysplasia Melnick-Fraser syndrome branchiootorenal dysplasia disease_ontology DOID:14702 OMIM mapping confirmed by DO. [SN]. branchiootorenal syndrome A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. url:https://www.ncbi.nlm.nih.gov/pubmed/263442 A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. GARD:101 ICD10CM:G71.22 MESH:D020914 NCI:C84648 ORDO:595 ORDO:596 ORDO:69186 ORDO:69189 SNOMEDCT_US_2023_03_01:193223007 UMLS_CUI:C0175709 myotubular myopathy disease_ontology DOID:14717 Xref MGI. centronuclear myopathy A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. url:http://en.wikipedia.org/wiki/Centronuclear_myopathy url:http://ghr.nlm.nih.gov/condition/centronuclear-myopathy A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. DOID:12708 MESH:D009849 NCI:C84947 SNOMEDCT_US_2023_03_01:67761004 UMLS_CUI:C0028968 Dejerine-Thomas syndrome Thomas' syndrome WADIA-SWAMI SYNDROME disease_ontology DOID:14784 OMIM mapping confirmed by DO. [SN]. olivopontocerebellar atrophy A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. url:http://www.ninds.nih.gov/disorders/opca/opca.htm A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. GARD:634 MESH:D057130 NCI:C129075 OMIM:PS204000 ORDO:65 SNOMEDCT_US_2023_03_01:193413001 UMLS_CUI:C0339527 LCA Leber's amaurosis Leber's congenital amaurosis Leber's disease disease_ontology DOID:14791 Xref MGI. OMIM mapping confirmed by DO. [SN]. Leber congenital amaurosis A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. url:http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. GARD:6043 ICD10CM:A00 ICD9CM:001 MESH:D002771 SNOMEDCT_US_2023_03_01:186087007 UMLS_CUI:C0008354 Cholera - Vibrio cholerae Cholera due to Vibrio cholerae Vibrio cholerae disease_ontology DOID:1498 cholera MESH:D002771 A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. ICD10CM:F10.1 ICD9CM:305.0 MESH:D000437 NCI:C20701 SNOMEDCT_US_2023_03_01:15167005 UMLS_CUI:C0085762 Ethanol abuse alcohol abuse disease_ontology DOID:1574 alcohol use disorder A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. url:http://en.wikipedia.org/wiki/Alcohol_abuse url:https://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. ICD10CM:C80.1 ICD9CM:199 ICDO:8000/3 MESH:D009369 NCI:C9305 SNOMEDCT_US_2023_03_01:269513004 UMLS_CUI:C0006826 malignant neoplasm malignant tumor primary cancer disease_ontology DOID:162 Updating out dated UMLS CUI. cancer A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. url:http://en.wikipedia.org/wiki/cancer url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer ICD10CM:Q24.9 ICD9CM:746.9 MESH:D006330 NCI:C34666 SNOMEDCT_US_2023_03_01:268315002 UMLS_CUI:C0018798 Congenital Heart Defects Congenital anomaly of heart Heart Malformation congenital heart defect heart defect disease_ontology Heart-congenital defect DOID:1682 OMIM mapping confirmed by DO. [SN]. congenital heart disease An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. ICD10CM:H40 ICD9CM:365 MESH:D005901 NCI:C26782 SNOMEDCT_US_2023_03_01:155120009 UMLS_CUI:C0017601 disease_ontology DOID:1686 glaucoma An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. url:https://en.wikipedia.org/wiki/Glaucoma url:https://www.aao.org/eye-health/diseases/what-is-glaucoma A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. EFO:0000474 ICD10CM:G40 ICD9CM:345.9 MESH:D004827 NCI:C3020 SNOMEDCT_US_2023_03_01:267698007 UMLS_CUI:C0014544 epilepsy syndrome epileptic syndrome disease_ontology DOID:1826 epilepsy ICD10CM:G40 ICD10CM:G40.9 ICD10CM:G40.909 A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. url:http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false url:http://www.merriam-webster.com/medlineplus/epilepsy GARD:1521 MESH:D007706 NCI:C75486 OMIM:309400 SNOMEDCT_US_2023_03_01:59178007 UMLS_CUI:C0022716 COPPER TRANSPORT DISEASE Menkes kinky-hair syndrome steely hair syndrome disease_ontology DOID:1838 OMIM mapping confirmed by DO. [SN]. Menkes disease A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. GARD:10214 MESH:D002780 NCI:C84400 ORDO:284385 SNOMEDCT_US_2023_03_01:4637005 UMLS_CUI:C0008372 neonatal intrahepatic cholestasis disease_ontology DOID:1852 Xref MGI. intrahepatic cholestasis A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. url:https://medlineplus.gov/ency/article/000215.htm A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. GARD:8233 ICD10CM:E75.22 MESH:D005776 NCI:C61268 ORDO:355 SNOMEDCT_US_2023_03_01:190794006 UMLS_CUI:C0017205 Gaucher disease acid beta-glucosidase deficiency glocucerebrosidase deficiency glucosylceramide beta-glucosidase deficiency kerasin thesaurismosis disease_ontology DOID:1926 Xref MGI. OMIM mapping confirmed by DO. [SN]. Gaucher's disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. url:http://en.wikipedia.org/wiki/Gaucher%27s_disease url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. ICD10CM:Q93.82 MESH:D018980 NCI:C85232 OMIM:194050 SNOMEDCT_US_2023_03_01:63247009 UMLS_CUI:C0175702 Fanconi Schlesinger syndrome WBS disease_ontology DOID:1928 OMIM mapping confirmed by DO. [LS]. Williams-Beuren syndrome A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. url:https://ghr.nlm.nih.gov/condition/williams-syndrome url:https://research.nhgri.nih.gov/atlas/condition/williams-syndrome url:https://www.ncbi.nlm.nih.gov/books/NBK1249/ A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. GARD:5810 ICD10CM:Q93.51 MESH:D017204 NCI:C75462 OMIM:105830 SNOMEDCT_US_2023_03_01:76880004 UMLS_CUI:C0162635 happy puppet syndrome puppetlike syndrome disease_ontology DOID:1932 OMIM mapping confirmed by DO. [SN]. Angelman syndrome MESH:D017204 A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. url:https://en.wikipedia.org/wiki/Angelman_syndrome url:https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes url:https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. DOID:1968 ICD10CM:G80 MESH:D002547 NCI:C34460 SNOMEDCT_US_2023_03_01:155024003 UMLS_CUI:C0007789 infantile cerebral palsy disease_ontology DOID:1969 cerebral palsy A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. url:http://en.wikipedia.org/wiki/Cerebral_palsy url:http://www.brainandspinalcord.org/cerebral-palsy/index.html url:http://www.cerebralpalsy.org/what-is-cerebral-palsy/ A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. ICDO:9508/3 NCI:C6906 OMIM:609322 ORDO:99966 SNOMEDCT_US_2023_03_01:128792003 UMLS_CUI:C1266184 Atypical teratoid/rhabdoid tumor Atypical teratoid/rhabdoid tumour Rhabdoid tumor of the CNS Rhabdoid tumour of the CNS atypical teratoid rhabdoid tumour disease_ontology AT/RT rhabdoid tumor predisposition syndrome DOID:2129 OMIM mapping confirmed by DO. [SN]. atypical teratoid rhabdoid tumor A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. url:http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor A neurodegenerative disease that is located_in the motor neurons. ICD10CM:G12.2 ICD9CM:335.2 MESH:D016472 SNOMEDCT_US_2023_03_01:37340000 UMLS_CUI:C0085084 disease_ontology DOID:231 motor neuron disease A neurodegenerative disease that is located_in the motor neurons. url:http://en.wikipedia.org/wiki/Motor_neuron_disease A female reproductive organ cancer that is located_in the ovary. DOID:0060070 DOID:2144 DOID:9595 GARD:7295 ICD10CM:C56 ICD9CM:183.0 MESH:D010051 NCI:C4984 NCI:C7431 OMIM:167000 OMIM:607893 ORDO:213500 ORDO:213517 SNOMEDCT_US_2023_03_01:123843001 SNOMEDCT_US_2023_03_01:372117006 SNOMEDCT_US_2023_03_01:93934004 UMLS_CUI:C0919267 UMLS_CUI:C1140680 UMLS_CUI:C1299247 malignant Ovarian tumor malignant tumour of ovary ovarian neoplasm ovary neoplasm primary ovarian cancer tumor of the Ovary disease_ontology DOID:2394 Xref MGI. OMIM mapping confirmed by DO. [SN]. ovarian cancer A female reproductive organ cancer that is located_in the ovary. url:http://www.cancer.gov/dictionary?CdrID=445074 A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. GARD:6637 ICD10CM:G11.4 ICD9CM:334.1 MESH:D015419 NCI:C140267 OMIM:PS303350 SNOMEDCT_US_2023_03_01:267692008 UMLS_CUI:C0037773 French settlement disease Strumpell-Lorrain disease familial spastic paraplegia hereditary spastic paraparesis disease_ontology DOID:2476 Xref MGI. hereditary spastic paraplegia A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. url:http://en.wikipedia.org/wiki/Familial_spastic_paraplegia An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. DOID:1034 DOID:2532 MESH:D019337 NCI:C27134 SNOMEDCT_US_2023_03_01:414388001 UMLS_CUI:C0376544 Hematologic malignancy Hematologic neoplasm Hematological tumors blood cancer hematopoietic and lymphoid system tumor hematopoietic cancer hematopoietic neoplasm hematopoietic tumors malignant hematopoietic neoplasm disease_ontology DOID:2531 hematologic cancer An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. url:http://en.wikipedia.org/wiki/Blood_cancer url:http://www.cancer.gov/dictionary/?CdrID=45708 A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. MESH:D001816 NCI:C2903 OMIM:210900 ORDO:125 SNOMEDCT_US_2023_03_01:4434006 UMLS_CUI:C0005859 Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome disease_ontology DOID:2717 OMIM mapping confirmed by DO. [SN]. Bloom syndrome A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. url:http://ghr.nlm.nih.gov/condition/bloom-syndrome url:https://en.wikipedia.org/wiki/Bloom_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/10823897 url:https://www.ncbi.nlm.nih.gov/pubmed/9482582 A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. DOID:1490 DOID:2011 ICD10CM:H93.9 ICD9CM:388.9 MESH:D004427 NCI:C26757 SNOMEDCT_US_2023_03_01:194193002 UMLS_CUI:C0013447 ear and mastoid disease disease_ontology DOID:2742 auditory system disease A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. url:https://books.google.com/books?id=r3I0BwAAQBAJ&newbks=1&newbks_redir=0&lpg=PP1&dq=disorders%20of%20auditory%20system&pg=PP1#v=onepage&q=disorders%20of%20auditory%20system&f=false An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). DOID:4069 GARD:6922 ICD10CM:I45.81 ICD9CM:426.82 MESH:D008133 NCI:C34786 OMIM:PS192500 ORDO:768 SNOMEDCT_US_2023_03_01:9651007 UMLS_CUI:C0023976 LQT long Q-T syndrome Romano-Ward syndrome disease_ontology DOID:2843 OMIM mapping confirmed by DO. [SN]. long QT syndrome ORDO:101016 An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). url:http://en.wikipedia.org/wiki/Long_QT_syndrome A disease of anatomical entity that is located_in the immune system. EFO:0000540 ICD10CM:D89.9 ICD9CM:279.9 SNOMEDCT_US_2023_03_01:154782004 UMLS_CUI:C0041806 disease_ontology DOID:2914 immune system disease A disease of anatomical entity that is located_in the immune system. url:http://en.wikipedia.org/wiki/Immune_system A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. GARD:6035 ICD10CM:E70.330 MESH:D002609 NCI:C2941 OMIM:214500 ORDO:167 SNOMEDCT_US_2023_03_01:111396008 UMLS_CUI:C0007965 CHS Chediak - Steinbrinck anomaly disease_ontology DOID:2935 OMIM mapping confirmed by DO. [SN]. Chediak-Higashi syndrome A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. url:http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/25129365 A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. MESH:D054463 NCI:C4924 SNOMEDCT_US_2021_09_01:723551003 IBIDS syndrome TTD-P Tay syndrome sulfur-deficient brittle hair syndrome trichothiodystrophy with congenital ichthyosis disease_ontology DOID:2960 OMIM mapping confirmed by DO. [SN]. photosensitive trichothiodystrophy A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy url:https://pubmed.ncbi.nlm.nih.gov/18603627/ A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. GARD:6122 ICD10CM:Q87.19 MESH:D003057 NCI:C9460 ORDO:191 SNOMEDCT_US_2023_03_01:205832003 UMLS_CUI:C0009207 Neill-Dingwall syndrome disease_ontology Cockayne's syndrome DOID:2962 Xref MGI. OMIM mapping confirmed by DO. [SN]. Cockayne syndrome MESH:D003057 A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. url:http://en.wikipedia.org/wiki/Cockayne_syndrome url:https://medlineplus.gov/genetics/condition/cockayne-syndrome/ url:https://www.ncbi.nlm.nih.gov/books/NBK1342/ An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. DOID:9434 MESH:D002239 UMLS_CUI:C0007001 disorder of carbohydrate transport and metabolism inborn carbohydrate metabolism disorder inborn errors of carbohydrate metabolism disease_ontology DOID:2978 carbohydrate metabolic disorder An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. url:http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. DOID:2428 DOID:6570 ICDO:8010/3 MESH:D002277 MESH:D009375 NCI:C2916 NCI:C3709 SNOMEDCT_US_2023_03_01:188083002 SNOMEDCT_US_2023_03_01:269513004 SNOMEDCT_US_2023_03_01:71298006 UMLS_CUI:C0007097 UMLS_CUI:C0553707 UMLS_CUI:C1368683 epithelial cancer epithelioma malignant Epithelioma disease_ontology DOID:305 carcinoma A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. url:http://en.wikipedia.org/wiki/Carcinoma An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. DOID:4945 DOID:8377 ICD10CM:C26.9 ICD9CM:239.0 MESH:D004067 MESH:D005770 NCI:C3052 NCI:C4890 SNOMEDCT_US_2023_03_01:128348002 SNOMEDCT_US_2023_03_01:276806006 SNOMEDCT_US_2023_03_01:428905002 UMLS_CUI:C0012243 UMLS_CUI:C0017185 UMLS_CUI:C0685938 GI tumor digestive system cancer gastrointestinal tract cancer disease_ontology DOID:3119 gastrointestinal system cancer An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract An inherited metabolic disorder that involves the creation and degradation of lipids. MESH:D008052 UMLS_CUI:C0023772 dyslipidemia fatty acid metabolism disorder disease_ontology DOID:3146 lipid metabolism disorder An inherited metabolic disorder that involves the creation and degradation of lipids. url:http://en.wikipedia.org/wiki/Lipid_metabolism A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. GARD:12033 ICD10CM:G71.21 MESH:D017696 OMIM:PS161800 ORDO:607 SNOMEDCT_US_2023_03_01:75072002 UMLS_CUI:C0206157 Nemaline body disease nemaline rod myopathy rod body disease rod myopathy disease_ontology DOID:3191 Xref MGI. nemaline myopathy A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. url:http://en.wikipedia.org/wiki/Nemaline_myopathy url:http://ghr.nlm.nih.gov/condition/nemaline-myopathy url:https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. MESH:D016464 NCI:C61250 SNOMEDCT_US_2023_03_01:23585005 UMLS_CUI:C0085078 disorder of lysosomal enzyme inborn lysosomal enzyme disorder lysosomal storage metabolism disorder disease_ontology DOID:3211 lysosomal storage disease An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. GARD:5786 ICD10CM:G12.21 ICD9CM:335.20 KEGG:05014 MESH:D000690 NCI:C34373 OMIM:PS105400 ORDO:803 SNOMEDCT_US_2023_03_01:86044005 UMLS_CUI:C0002736 ALS Lou Gehrig's disease motor neuron disease, bulbar disease_ontology DOID:332 amyotrophic lateral sclerosis MESH:D000690 A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis url:http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). GARD:10670 MESH:D009081 NCI:C61267 OMIM:256550 SNOMEDCT_US_2023_03_01:70528007 UMLS_CUI:C0026697 Mucolipidosis type I sialidosis disease_ontology DOID:3343 OMIM mapping submitted by NeuroDevNet. [LS]. glycoproteinosis A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). url:http://en.wikipedia.org/wiki/Sialidosis url:https://en.wikipedia.org/wiki/Glycoproteinosis url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. GARD:3896 ICD10CM:G72.41 ICD9CM:359.71 MESH:D018979 NCI:C84786 OMIM:147421 ORDO:611 SNOMEDCT_US_2023_03_01:72315009 UMLS_CUI:C0238190 disease_ontology DOID:3429 OMIM mapping confirmed by DO. [SN]. inclusion body myositis MESH:D018979 A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. url:http://en.wikipedia.org/wiki/Inclusion_body_myositis url:https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. GARD:10955 ICD10CM:Q87.19 MESH:D009634 NCI:C34854 OMIM:PS163950 ORDO:648 SNOMEDCT_US_2023_03_01:88327006 UMLS_CUI:C0028326 Turner's phenotype, karyotype normal disease_ontology DOID:3490 OMIM mapping confirmed by DO. [SN]. Noonan syndrome A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. url:https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition url:https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome url:https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome url:https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. GARD:8214 MESH:D020192 NCI:C84804 OMIM:254780 SNOMEDCT_US_2023_03_01:230425004 UMLS_CUI:C0751783 Lafora Progressive Myoclonic Epilepsy Lafora's disease MYOCLONIC EPILEPSY OF LAFORA disease_ontology DOID:3534 OMIM mapping confirmed by DO. [SN]. Lafora disease A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. url:https://www.ncbi.nlm.nih.gov/pubmed/19267391 url:https://www.ncbi.nlm.nih.gov/pubmed/19469843 A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. GARD:6877 ICD10CM:G31.82 MESH:D007888 NCI:C84814 OMIM:256000 ORDO:506 SNOMEDCT_US_2023_03_01:29570005 UMLS_CUI:C0023264 Infantile necrotizing encephalomyelopathy Leigh syndrome juvenile subacute necrotizing encephalomyelopathy disease_ontology subacute necrotizing encephalomyelopathy DOID:3652 Xref MGI. OMIM mapping confirmed by DO. [SN]. Leigh disease A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. url:http://en.wikipedia.org/wiki/Leigh%27s_disease url:http://ghr.nlm.nih.gov/condition/leigh-syndrome url:https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ url:https://rarediseases.org/rare-diseases/leigh-syndrome/ A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. GARD:6643 ICD10CM:E70.331 MESH:D022861 NCI:C37261 OMIM:PS203300 ORDO:231531 ORDO:231537 ORDO:280663 ORDO:79430 SNOMEDCT_US_2023_03_01:60255003 UMLS_CUI:C0079504 disease_ontology DOID:3753 Xref MGI. OMIM mapping confirmed by DO. [SN]. Hermansky-Pudlak syndrome A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. url:http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome url:http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. GARD:48 MESH:D030401 NCI:C98910 OMIM:PS220110 SNOMEDCT_US_2023_03_01:237991006 UMLS_CUI:C0268237 MITOCHONDRIAL COMPLEX IV DEFICIENCY disease_ontology DOID:3762 OMIM mapping confirmed by DO. [SN]. cytochrome-c oxidase deficiency disease A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. url:https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders url:https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency url:https://www.ncbi.nlm.nih.gov/pubmed/26846578 A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. GARD:6123 MESH:D038921 NCI:C84643 OMIM:303600 SNOMEDCT_US_2023_03_01:15182000 UMLS_CUI:C0265252 disease_ontology DOID:3783 OMIM mapping confirmed by DO. [SN]. Coffin-Lowry syndrome A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. url:https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. GARD:7467 ICD10CM:E34.8 MEDDRA:10036794 MESH:D011371 NCI:C34951 OMIM:176670 ORDO:740 SNOMEDCT_US_2023_03_01:190590004 UMLS_CUI:C0033300 HGPS Hutchinson Gilford syndrome Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford disease disease_ontology DOID:3911 OMIM mapping confirmed by DO. [SN]. progeria A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. url:https://www.genome.gov/Genetic-Disorders/Progeria url:https://www.ncbi.nlm.nih.gov/pubmed/12714972 url:https://www.ncbi.nlm.nih.gov/pubmed/16838330 A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. GARD:6564 ICD10CM:G23.0 MESH:D006211 NCI:C8967 OMIM:234200 ORDO:157850 SNOMEDCT_US_2023_03_01:2992000 UMLS_CUI:C0018523 Hallervorden-Spatz disease Hallervorden-Spatz syndrome NBIA1 Pigmentary pallidal degeneration brain Iron Accumulation type I syndrome neurodegeneration with brain iron accumulation 1 disease_ontology DOID:3981 OMIM mapping confirmed by DO. [SN]. pantothenate kinase-associated neurodegeneration A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. url:http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration DOID:4382 GARD:4701 ICDO:8920/3 MESH:D018232 NCI:C3749 NCI:C7958 OMIM:268220 SNOMEDCT_US_2023_03_01:404053004 UMLS_CUI:C0206655 UMLS_CUI:C0279613 alveolar childhood rhabdomyosarcoma disease_ontology DOID:4051 OMIM mapping confirmed by DO. [SN]. alveolar rhabdomyosarcoma A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. MESH:D020914 NCI:C84648 UMLS_CUI:C0752282 disease_ontology DOID:422 congenital structural myopathy A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. url:https://pubmed.ncbi.nlm.nih.gov/23897157/ A muscular disease in which the muscle fibers do not function resulting in muscular weakness. ICD10CM:G72.9 ICD9CM:359.9 MESH:D009135 NCI:C101216 SNOMEDCT_US_2023_03_01:155094005 UMLS_CUI:C0026848 disease_ontology DOID:423 myopathy A muscular disease in which the muscle fibers do not function resulting in muscular weakness. url:http://en.wikipedia.org/wiki/Myopathy A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. GARD:7690 ICD10CM:A81.82 ICD9CM:046.71 MESH:D016098 NCI:C84727 OMIM:137440 SNOMEDCT_US_2023_03_01:67155006 UMLS_CUI:C0017495 Gerstmann-Straussler-Scheinker disease PRION DEMENTIA disease_ontology DOID:4249 OMIM mapping confirmed by DO. [SN]. Gerstmann-Straussler-Scheinker syndrome A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. url:http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome url:http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease url:http://www.cdc.gov/ncidod/dvrd/prions/ A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. GARD:5774 MESH:D038261 NCI:C84545 OMIM:203450 SNOMEDCT_US_2023_03_01:81854007 UMLS_CUI:C0270726 Alexander's disease disease_ontology DOID:4252 OMIM mapping confirmed by DO. [SN]. Alexander disease MESH:D038261 A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. url:http://en.wikipedia.org/wiki/Alexander_disease url:http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm url:http://www.omim.org/entry/203450 url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. MESH:D008268 NCI:C123330 ORDO:279 SNOMEDCT_US_2023_03_01:302891003 UMLS_CUI:C0024437 Macular degeneration of retina disease_ontology DOID:4448 Xref MGI. macular degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. url:http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration url:http://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1 MESH:D011546 NCI:C85034 SNOMEDCT_US_2023_03_01:77098009 UMLS_CUI:C0033805 disease_ontology DOID:4479 pseudohypoaldosteronism A muscular dystrophy that is characterized by progressive muscle wasting and weakness. ICD10CM:G71.1 ICD9CM:359.2 MESH:D020967 NCI:C84913 SNOMEDCT_US_2023_03_01:155096007 UMLS_CUI:C0553604 disease_ontology DOID:450 myotonic disease MESH:D009223 A muscular dystrophy that is characterized by progressive muscle wasting and weakness. url:http://en.wikipedia.org/wiki/Myotonic_dystrophy url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy url:http://www.genome.gov/25521207 MESH:D020240 SNOMEDCT_US_2023_03_01:39746003 UMLS_CUI:C0234523 Classic apraxia Ideomotor dyspraxia Limb-kinetic apraxia Transcortical apraxia disease_ontology DOID:4627 ideomotor apraxia A disease of mental health that involves disruption of sleep patterns. DOID:9028 ICD9CM:307.4 UMLS_CUI:C0154564 Non-organic sleep disorder disease_ontology DOID:535 sleep disorder A disease of mental health that involves disruption of sleep patterns. url:http://en.wikipedia.org/wiki/Sleep_disorder A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. DOID:14734 ICD10CM:F20 ICD9CM:295 MESH:D012559 NCI:C3362 OMIM:181500 SNOMEDCT_US_2023_03_01:58214004 UMLS_CUI:C0036341 schizophrenia-1 disease_ontology DOID:5419 Xref MGI. OMIM mapping confirmed by DO. [SN]. schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. url:http://en.wikipedia.org/wiki/Schizophrenia A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. DOID:544 ICD10CM:G24 MESH:D004421 MESH:D020821 NCI:C34563 OMIM:PS128100 SNOMEDCT_US_2023_03_01:15802004 SNOMEDCT_US_2023_03_01:250068003 UMLS_CUI:C0013421 UMLS_CUI:C0393593 dystonic disease disease_ontology DOID:543 dystonia MESH:D004421 A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. url:https://rarediseases.org/rare-diseases/dystonia/ url:https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480 url:https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/dystonias-fact-sheet A urinary system disease that is located_in the kidney. DOID:11705 EFO:0003086 ICD10CM:N08 MESH:D007674 NCI:C3149 SNOMEDCT_US_2023_03_01:266612003 UMLS_CUI:C0022658 impaired renal function disease nephropathy disease_ontology DOID:557 kidney disease A urinary system disease that is located_in the kidney. url:http://www.nlm.nih.gov/medlineplus/kidneydiseases.html An eye and adnexa disease that is located_in the eye. DOID:2933 ICD10CM:H44 ICD9CM:379.90 MESH:D005128 NCI:C26767 SNOMEDCT_US_2023_03_01:371409005 UMLS_CUI:C0015397 disease_ontology DOID:5614 eye disease An eye and adnexa disease that is located_in the eye. url:http://en.wikipedia.org/wiki/Eye_disease A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. GARD:7885 MESH:D014898 NCI:C3447 OMIM:277700 ORDO:902 SNOMEDCT_US_2023_03_01:51626007 UMLS_CUI:C0043119 WS Werner's syndrome adult premature ageing syndrome adult progeria disease_ontology DOID:5688 OMIM mapping confirmed by DO. [LS]. Werner syndrome A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. url:https://en.wikipedia.org/wiki/Werner_syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/15946710 url:https://www.ncbi.nlm.nih.gov/pubmed/9288107 An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. ICD10CM:H47.2 ICD9CM:377.1 MESH:D009896 NCI:C34863 OMIM:PS165500 ORDO:98673 SNOMEDCT_US_2023_03_01:155188004 UMLS_CUI:C0029124 atrophy of optic disc disease_ontology DOID:5723 Xref MGI. optic atrophy An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. url:https://eyewiki.aao.org/Optic_Atrophy An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. ICD10CM:D84.9 ICD9CM:279.3 KEGG:05340 MESH:D007153 NCI:C39725 OMIM:242850 OMIM:PS300755 SNOMEDCT_US_2023_03_01:191005003 UMLS_CUI:C0021051 hypoimmunity immune deficiency disorder immunodeficiency syndrome disease_ontology DOID:612 Xref MGI. primary immunodeficiency disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. ICD10CM:A81.9 KEGG:05020 MESH:D017096 NCI:C128346 SNOMEDCT_US_2023_03_01:20484008 UMLS_CUI:C0162534 Prion disease pathway Prion protein disease Spongiform Encephalopathy prion induced disorder transmissible spongiform encephalopathy disease_ontology DOID:649 prion disease A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. url:http://en.wikipedia.org/wiki/Prion url:http://www.cdc.gov/ncidod/dvrd/prions/ A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. MESH:D024801 UMLS_CUI:C0949664 disease_ontology DOID:680 tauopathy A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. url:http://en.wikipedia.org/wiki/Tauopathy A myopathy that is characterized by mitochondrial dysfunction. MESH:D017240 NCI:C101328 OMIM:251900 SNOMEDCT_US_2023_03_01:240096000 UMLS_CUI:C0162670 mitochondrial cytopathy disease_ontology DOID:699 OMIM mapping confirmed by DO. [SN]. mitochondrial myopathy A myopathy that is characterized by mitochondrial dysfunction. url:http://en.wikipedia.org/wiki/Mitochondrial_myopathies url:http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. GARD:7048 MESH:D028361 SNOMEDCT_US_2023_03_01:240096000 UMLS_CUI:C0751651 disease_ontology DOID:700 mitochondrial metabolism disease An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. url:http://en.wikipedia.org/wiki/Mitochondrial_disease A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. MESH:D012162 NCI:C34979 SNOMEDCT_US_2023_03_01:95695004 UMLS_CUI:C0035304 degeneration of retina disease_ontology DOID:8466 retinal degeneration A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. url:https://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation) A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. MESH:D003095 NCI:C27204 SNOMEDCT_US_2023_03_01:268048008 UMLS_CUI:C0009326 collagen disorder disease_ontology DOID:854 collagen disease A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. url:https://en.wikipedia.org/wiki/Connective_tissue_disease A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly. ICD10CM:B27 ICD9CM:075 MESH:D007244 NCI:C34726 SNOMEDCT_US_2023_03_01:154359004 UMLS_CUI:C0021345 Filatov's disease Gammaherpesviral mononucleosis Monocytic angina Pfeiffer's disease glandular fever mononucleosis disease_ontology DOID:8568 infectious mononucleosis A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly. url:http://en.wikipedia.org/wiki/Infectious_mononucleosis url:http://www.cdc.gov/ncidod/diseases/ebv.htm DOID:14750 DOID:8711 DOID:9137 GARD:10420 ICD10CM:Q85.0 ICD9CM:237.7 MESH:D017253 NCI:C6727 ORDO:634518 SNOMEDCT_US_2023_03_01:19133005 UMLS_CUI:C0162678 UMLS_CUI:C0495632 disease_ontology DOID:8712 This disease may be obsoleted in the future. Diseases previously classified as neurofibromatosis 2 (DOID:0111252) and neurofibromatosis 3 (DOID:0070480 and DOID:0070481) have been reclassified by international consensus as subclasses of schwannomatosis. For details refer to definition sources for neurofibromatosis 1 (DOID:0111253). neurofibromatosis ORDO:634518 GARD:10420 ICD10CM:Q85.0 ICD9CM:237.7 MESH:D017253 NCI:C6727 SNOMEDCT_US_2023_03_01:19133005 UMLS_CUI:C0162678 UMLS_CUI:C0495632 ICD10CM:Q85.00 MESH:D017237 SNOMEDCT_US_2023_03_01:447292006 UMLS_CUI:C0162666 disease_ontology DOID:890 mitochondrial encephalomyopathy A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. DOID:2847 ICD10CM:F81.9 MESH:D007859 NCI:C89334 SNOMEDCT_US_2023_03_01:1855002 SNOMEDCT_US_2023_03_01:192531005 UMLS_CUI:C0023186 UMLS_CUI:C0751265 Academic skill disorder learning disorder disease_ontology DOID:8927 learning disability A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. url:http://en.wikipedia.org/wiki/Learning_disability url:http://www.ldonline.org/ldbasics/whatisld A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. GARD:7917 ICD10CM:E71.510 MESH:D015211 NCI:C85239 ORDO:912 SNOMEDCT_US_2023_03_01:88469006 UMLS_CUI:C0043459 cerebrohepatorenal syndrome congenital iron overload disease_ontology DOID:905 OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN]. Zellweger syndrome A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. url:http://en.wikipedia.org/wiki/Zellweger_Syndrome url:http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912 An inherited metabolic disorder that involves peroxisome malfunction. ICD10CM:E71.5 ICD9CM:277.86 MESH:D018901 NCI:C85005 SNOMEDCT_US_2023_03_01:238059005 UMLS_CUI:C0282528 peroxisomal disorder disease_ontology DOID:906 peroxisomal disease An inherited metabolic disorder that involves peroxisome malfunction. url:http://en.wikipedia.org/wiki/Peroxisomal_disorder A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. DOID:9118 DOID:9171 GARD:12757 ICD10CM:C92.0 ICD9CM:205.0 ICDO:9861/3 KEGG:05221 MESH:D015470 NCI:C3171 OMIM:601626 SNOMEDCT_US_2023_03_01:17788007 UMLS_CUI:C0023467 AML - acute Myeloid Leukemia Leukemia, Myelocytic, acute acute myeloblastic leukaemia acute myeloblastic leukemia acute myelogenous leukaemia acute myelogenous leukemia acute myeloid leukaemia disease_ontology DOID:9119 OMIM mapping confirmed by DO. [SN]. acute myeloid leukemia A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. url:http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia url:http://en.wikipedia.org/wiki/Acute_myeloid_leukemia url:http://www.cancer.gov/dictionary?cdrid=44363 url:https://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. ICD10CM:E85 ICD9CM:277.3 MESH:D000686 NCI:C2868 SNOMEDCT_US_2023_03_01:154769007 UMLS_CUI:C0002726 amyloid disease disease_ontology DOID:9120 amyloidosis has both inherited and aquired subtypes [LS]. amyloidosis MESH:D000686 A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. url:https://en.wikipedia.org/wiki/Amyloidosis url:https://pubmed.ncbi.nlm.nih.gov/33100054/ url:https://pubmed.ncbi.nlm.nih.gov/33787033/ url:https://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. GARD:8436 MESH:C563003 OMIM:600274 ORDO:282 SNOMEDCT_US_2023_03_01:42369001 UMLS_CUI:C0520716 Wilhemsen-Lynch disease frontotemporal lobar degeneration multiple system tauopathy with presenile dementia pallidopontonigral degeneration disease_ontology DOID:9255 Xref MGI. OMIM mapping confirmed by DO. [SN]. frontotemporal dementia MESH:D057180 A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. url:http://en.wikipedia.org/wiki/Frontotemporal_dementia url:http://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876 url:https://www.ncbi.nlm.nih.gov/pubmed/21121521 url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract A large intestine cancer that is located_in the colon and/or located_in the rectum. ICD10CM:C18.9 KEGG:05210 MESH:D015179 NCI:C2956 NCI:C4978 OMIM:114500 SNOMEDCT_US_2023_03_01:126837005 SNOMEDCT_US_2023_03_01:93854002 UMLS_CUI:C0009404 UMLS_CUI:C0346629 disease_ontology DOID:9256 Xref MGI. OMIM mapping confirmed by DO. [SN]. colorectal cancer A large intestine cancer that is located_in the colon and/or located_in the rectum. url:http://www.cancer.gov/dictionary?CdrID=444983 A disease by infectious agent that results in infection, has_material_basis_in Viruses. DOID:1329 ICD10CM:A94 ICD10CM:B34.9 ICD9CM:060-066.99 MESH:D001102 MESH:D014777 NCI:C3439 NCI:C34396 SNOMEDCT_US_2023_03_01:34014006 SNOMEDCT_US_2023_03_01:40610006 UMLS_CUI:C0003723 UMLS_CUI:C0042769 Viral Infection Viral disease virus infection disease_ontology DOID:934 viral infectious disease A disease by infectious agent that results in infection, has_material_basis_in Viruses. url:http://www.merck.com/mmhe/sec17/ch198/ch198a.html A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. ICD10CM:E11 KEGG:04930 MESH:D003924 NCI:C26747 OMIM:125853 OMIM:601283 OMIM:601407 OMIM:603694 OMIM:608036 SNOMEDCT_US_2023_03_01:44054006 UMLS_CUI:C0011860 NIDDM insulin resistance non-insulin-dependent diabetes mellitus type 2 diabetes type II diabetes mellitus disease_ontology DOID:9352 Xref MGI. OMIM mapping confirmed by DO. [SN]. type 2 diabetes mellitus A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. url:http://en.wikipedia.org/wiki/Diabetes url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes. DOID:9451 ICD10CM:K70.0 ICD9CM:571.0 MESH:D005234 MESH:D005235 OMIM:228100 SNOMEDCT_US_2023_03_01:371330000 SNOMEDCT_US_2023_03_01:50325005 UMLS_CUI:C0015695 UMLS_CUI:C0015696 Fatty change of liver SLD Steatosis of liver alcoholic fatty liver fatty liver disease hepatic lipidosis hepatic steatosis cryptogenic steatotic liver disease disease_ontology DOID:9452 PRISM. steatotic liver disease A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes. url:https://pubmed.ncbi.nlm.nih.gov/27099587/ url:https://pubmed.ncbi.nlm.nih.gov/37364816/ A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. DOID:2925 GARD:4484 MESH:D002925 NCI:C84638 OMIM:PS244400 ORDO:244 SNOMEDCT_US_2023_03_01:86204009 UMLS_CUI:C0008780 ciliary motility disorder immotile ciliary syndrome disease_ontology DOID:9562 Xref MGI. OMIM mapping confirmed by DO. [SN]. primary ciliary dyskinesia A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. url:http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. GARD:2424 ICD10CM:E74.21 ICD9CM:271.1 MESH:D005693 NCI:C84723 SNOMEDCT_US_2023_03_01:38177000 UMLS_CUI:C0016952 Galactosaemia Galactose intolerance disease_ontology DOID:9870 OMIM mapping by NeuroDevNet. [LS]. galactosemia A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. url:http://en.wikipedia.org/wiki/Galactosemia A myopathy is characterized by progressive skeletal muscle weakness degeneration. GARD:7922 ICD10CM:G71.0 MESH:D009136 NCI:C84910 OMIM:158800 OMIM:159050 OMIM:309930 OMIM:309950 OMIM:310000 OMIM:310095 OMIM:600416 SNOMEDCT_US_2023_03_01:155095006 UMLS_CUI:C0026850 disease_ontology DOID:9884 muscular dystrophy A myopathy is characterized by progressive skeletal muscle weakness degeneration. url:http://en.wikipedia.org/wiki/Muscular_dystrophy url:http://www.ninds.nih.gov/disorders/md/md.htm An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. EFO:0001073 ICD10CM:E66.9 ICD9CM:278.00 MESH:D009765 NCI:C159658 OMIM:601665 SNOMEDCT_US_2023_03_01:5476005 UMLS_CUI:C0028754 disease_ontology DOID:9970 OMIM mapping confirmed by DO. [SN]. obesity An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. url:https://en.wikipedia.org/wiki/Obesity