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