sensory system disease
type: Class
IAO_0000115: 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).
has OBO namespace: disease_ontology
id: DOID:0050155
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO GXD slim

Axiom
annotated source: sensory system disease
annotated property: IAO_0000115
annotated target: 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).
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sensory_system

Epstein-Barr virus hepatitis
type: Class
IAO_0000115: A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
has OBO namespace: disease_ontology
id: DOID:0050204
in subset: DO FlyBase slim
in subset: DO infectious disease slim

Axiom
annotated source: Epstein-Barr virus hepatitis
annotated property: IAO_0000115
annotated target: A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16711324
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17602362

primary bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
IAO_0000115: 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.
has OBO namespace: disease_ontology
id: DOID:0050338
in subset: DO FlyBase slim
in subset: DO infectious disease slim

Axiom
annotated source: primary bacterial infectious disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Infectious_disease

opportunistic bacterial infectious disease
type: Class
subclass of: bacterial infectious disease
IAO_0000115: A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
has OBO namespace: disease_ontology
id: DOID:0050340
in subset: DO FlyBase slim
in subset: DO infectious disease slim

Axiom
annotated source: opportunistic bacterial infectious disease
annotated property: IAO_0000115
annotated target: A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised.
type: ECO_0007646
has db xref: url:http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545

xeroderma pigmentosum
type: Class
IAO_0000115: 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.
has db xref: GARD:7910
has db xref: ICD10CM:Q82.1
has db xref: MESH:D014983
has db xref: NCI:C3452
has db xref: ORDO:910
has db xref: SNOMEDCT_US_2023_03_01:44600005
has db xref: UMLS_CUI:C0043346
has OBO namespace: disease_ontology
id: DOID:0050427
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: xeroderma pigmentosum
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract

multiple endocrine neoplasia type 2A
type: Class
IAO_0000115: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
has db xref: ICD10CM:E31.22
has db xref: ICD9CM:258.02
has db xref: MESH:D018813
has db xref: MIM:171400
has db xref: NCI:C3226
has db xref: ORDO:247698
has db xref: SNOMEDCT_US_2023_03_01:721188000
has db xref: UMLS_CUI:C0025268
has exact synonym: MEN2A
has exact synonym: Sipple syndrome
has exact synonym: multiple endocrine neoplasia II
has OBO namespace: disease_ontology
id: DOID:0050430
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: multiple endocrine neoplasia type 2A
annotated property: IAO_0000115
annotated target: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
has db xref: url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15965261
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract

Axiom
annotated source: multiple endocrine neoplasia type 2A
annotated property: hasExactSynonym
annotated target: MEN2A
has synonym type: OMO_0003012

lissencephaly
type: Class
IAO_0000115: 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.
has db xref: GARD:12291
has db xref: ICD10CM:Q04.3
has db xref: MESH:D054082
has db xref: MIM:PS607432
has db xref: NCI:C103921
has db xref: ORDO:102009
has db xref: SNOMEDCT_US_2023_03_01:204036008
has db xref: SNOMEDCT_US_2023_03_01:23024003
has db xref: UMLS_CUI:C0266463
has db xref: UMLS_CUI:C0266483
has OBO namespace: disease_ontology
id: DOID:0050453
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: lissencephaly
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lissencephaly
has db xref: url:http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm

Wolf-Hirschhorn syndrome
type: Class
IAO_0000115: 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.
has alternative id: DOID:6684
has db xref: GARD:7896
has db xref: ICD10CM:Q93.3
has db xref: MESH:D054877
has db xref: MIM:194190
has db xref: NCI:C35528
has db xref: ORDO:280
has db xref: SNOMEDCT_US_2023_03_01:17122004
has db xref: UMLS_CUI:C0796117
has db xref: UMLS_CUI:C1956097
has exact synonym: 4p deletion syndrome
has exact synonym: PITT SYNDROME
has exact synonym: Pitt-Rogers-Danks Syndrome
has exact synonym: chromosome 4p16.3 deletion syndrome
has OBO namespace: disease_ontology
id: DOID:0050460
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Wolf-Hirschhorn syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome

erythrokeratodermia variabilis
type: Class
IAO_0000115: 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.
has db xref: MESH:D056266
has db xref: MIM:PS133200
has db xref: NCI:C84696
has db xref: ORDO:317
has db xref: SNOMEDCT_US_2023_03_01:70041004
has db xref: UMLS_CUI:C0265961
has db xref: UMLS_CUI:C1851480
has exact synonym: Erythrokeratodermia Figurata Variabilis
has exact synonym: Greither Disease
has OBO namespace: disease_ontology
id: DOID:0050467
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: erythrokeratodermia variabilis
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis

Barth syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:5890
has db xref: ICD10CM:E78.71
has db xref: MESH:D056889
has db xref: MIM:302060
has db xref: NCI:C84585
has db xref: ORDO:111
has db xref: SNOMEDCT_US_2023_03_01:297231002
has db xref: UMLS_CUI:C0574083
has exact synonym: 3-methylglutaconicaciduria type 2
has exact synonym: 3-methylglutaconicaciduria type II
has exact synonym: MGA Type 2
has exact synonym: MGA type II
has OBO namespace: disease_ontology
id: DOID:0050476
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Barth syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Barth_syndrome
has db xref: url:http://www.ninds.nih.gov/disorders/barth/barth.htm

intermediate spinal muscular atrophy
type: Class
subclass of: childhood spinal muscular atrophy
IAO_0000115: 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.
has db xref: MESH:D014897
has db xref: MIM:253550
has db xref: NCI:C156310
has db xref: SNOMEDCT_US_2023_03_01:128212001
has db xref: UMLS_CUI:C0393538
has exact synonym: MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM
has exact synonym: MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE
has exact synonym: SMA II
has exact synonym: SMA2
has exact synonym: spinal muscular atrophy 2
has exact synonym: spinal muscular atrophy type II
has OBO namespace: disease_ontology
id: DOID:0050530
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: intermediate spinal muscular atrophy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2

Axiom
annotated source: intermediate spinal muscular atrophy
annotated property: hasExactSynonym
annotated target: SMA II
has synonym type: OMO_0003012

Axiom
annotated source: intermediate spinal muscular atrophy
annotated property: hasExactSynonym
annotated target: SMA2
has synonym type: OMO_0003012

familial medullary thyroid carcinoma
type: Class
subclass of: cancer
IAO_0000115: A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22.
has db xref: MESH:C536911
has db xref: MIM:155240
has exact synonym: THYROID CARCINOMA, FAMILIAL MEDULLARY
has OBO namespace: disease_ontology
id: DOID:0050547
in subset: DO FlyBase slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: familial medullary thyroid carcinoma
annotated property: IAO_0000115
annotated target: A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22.
type: ECO_0007636
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
has db xref: url:https://www.omim.org/entry/155240

hereditary sensory neuropathy
type: Class
IAO_0000115: A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
has db xref: MESH:D009477
has db xref: MIM:PS162400
has exact synonym: familial dysautonomia, type II
has exact synonym: hereditary sensory and autonomic neuropathy
has OBO namespace: disease_ontology
id: DOID:0050548
in subset: DO FlyBase slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hereditary sensory neuropathy
annotated property: IAO_0000115
annotated target: A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages.
type: ECO_0007636
has db xref: url:http://omim.org/entry/616488?search=616488&highlight=616488

Walker-Warburg syndrome
type: Class
subclass of: muscular dystrophy
IAO_0000115: 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.
has db xref: GARD:2599
has db xref: MESH:D058494
has exact synonym: HARD syndrome
has exact synonym: cerebroocular dysplasia-muscular dystrophy syndrome
has OBO namespace: disease_ontology
id: DOID:0050560
in subset: DO FlyBase slim
in subset: DO rare slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Walker-Warburg syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome

congenital disorder of glycosylation type II
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
has db xref: MESH:C535747
has db xref: MIM:PS212066
has OBO namespace: disease_ontology
id: DOID:0050571
in subset: DO FlyBase slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital disorder of glycosylation type II
annotated property: IAO_0000115
annotated target: A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification

D-2-hydroxyglutaric aciduria
type: Class
IAO_0000115: 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.
has db xref: GARD:5661
has db xref: MIM:PS600721
has OBO namespace: disease_ontology
id: DOID:0050575
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: D-2-hydroxyglutaric aciduria
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria

congenital generalized lipodystrophy
type: Class
IAO_0000115: A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
has db xref: GARD:13388
has db xref: MIM:PS608594
has OBO namespace: disease_ontology
id: DOID:0050585
in subset: DO FlyBase slim
in subset: DO rare slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital generalized lipodystrophy
annotated property: IAO_0000115
annotated target: A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy

inflammatory bowel disease
type: Class
IAO_0000115: An intestinal disease characterized by inflammation located in all parts of digestive tract.
has db xref: EFO:0003767
has db xref: KEGG:05321
has db xref: MESH:D015212
has db xref: MIM:PS266600
has db xref: NCI:C3138
has db xref: SNOMEDCT_US_2023_03_01:155759008
has db xref: UMLS_CUI:C0021390
has OBO namespace: disease_ontology
id: DOID:0050589
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: inflammatory bowel disease
annotated property: IAO_0000115
annotated target: An intestinal disease characterized by inflammation located in all parts of digestive tract.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Inflammatory_bowel_disease
has db xref: url:http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908

hereditary systemic amyloidosis 1
type: Class
subclass of: amyloidosis
IAO_0000115: 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.
has alternative id: DOID:0050761
has db xref: GARD:656
has db xref: ICD10CM:E85.82
has db xref: MIM:105210
has db xref: ORDO:85447
has exact synonym: ATTR amyloidosis
has exact synonym: ATTRm amyloidosis
has exact synonym: Amyloidosis, hereditary, transthyretin-related
has exact synonym: Corino de Andrade's disease
has exact synonym: Familial transthyretin amyloidosis
has exact synonym: TTR amyloidosis
has exact synonym: familial amyloid polyneuropathy
has exact synonym: paramyloidosis
has exact synonym: transthyretin amyloidosis
has exact synonym: transthyretin-related hereditary amyloidosis
has OBO namespace: disease_ontology
id: DOID:0050638
in subset: DO FlyBase slim
in subset: DO rare slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: hereditary systemic amyloidosis 1
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis
has db xref: url:http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1194/
has db xref: url:http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451
has db xref: url:http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1194/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19372706

Birt-Hogg-Dube syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:2322
has db xref: MESH:D058249
has db xref: MIM:135150
has OBO namespace: disease_ontology
id: DOID:0050676
in subset: DO FlyBase slim
in subset: DO rare slim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Birt-Hogg-Dube syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
has db xref: url:https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/

cardiomyopathy
type: Class
subclass of: heart disease
IAO_0000115: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
creation date: 2012-01-03T02:54:11Z
has db xref: ICD10CM:I42
has db xref: ICD9CM:425
has db xref: ICD9CM:425.9
has db xref: MESH:D009202
has db xref: NCI:C34830
has db xref: NCI:C53654
has db xref: SNOMEDCT_US_2023_03_01:266301006
has db xref: SNOMEDCT_US_2023_03_01:89461002
has db xref: SNOMEDCT_US_2023_03_01:89600009
has db xref: UMLS_CUI:C0033141
has db xref: UMLS_CUI:C0036529
has db xref: UMLS_CUI:C0878544
has exact synonym: Cardiomyopathies
has OBO namespace: disease_ontology
id: DOID:0050700
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: NCIthesaurus
comment: MESH:D009202 added from NeuroDevNet [WAK].

Axiom
annotated source: cardiomyopathy
annotated property: IAO_0000115
annotated target: A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cardiomyopathy
has db xref: url:http://www.nhlbi.nih.gov/health/health-topics/topics/cm/

alcohol dependence
type: Class
IAO_0000115: 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.
creation date: 2012-09-05T11:48:42Z
has db xref: KEGG:05034
has db xref: MIM:103780
has db xref: SNOMEDCT_US_2021_09_01:66590003
has exact synonym: alcoholism
has OBO namespace: disease_ontology
id: DOID:0050741
in subset: DO FlyBase slim

Axiom
annotated source: alcohol dependence
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Alcohol_dependence

amyotrophic lateral sclerosis type 8
type: Class
subclass of: amyotrophic lateral sclerosis
IAO_0000115: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.
has db xref: GARD:10499
has db xref: MIM:608627
has exact synonym: ALS8
has exact synonym: amyotrophic lateral sclerosis 8
has OBO namespace: disease_ontology
id: DOID:0050752
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: amyotrophic lateral sclerosis type 8
annotated property: IAO_0000115
annotated target: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
has db xref: url:http://omim.org/entry/608627

Axiom
annotated source: amyotrophic lateral sclerosis type 8
annotated property: hasExactSynonym
annotated target: ALS8
has synonym type: OMO_0003012

ARC syndrome
type: Class
IAO_0000115: 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.
creation date: 2013-01-17T12:46:38Z
has db xref: MIM:PS208085
has db xref: ORDO:2697
has exact synonym: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
has exact synonym: Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
has exact synonym: Arthrogryposis-renal dysfunction-cholestasis
has OBO namespace: disease_ontology
id: DOID:0050763
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: ARC syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16896922
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22753090
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24415890

non-syndromic X-linked intellectual disability
type: Class
subclass of: intellectual disability
IAO_0000115: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
creation date: 2013-02-21T12:06:40Z
has db xref: MIM:300716
has db xref: ORDO:777
has exact synonym: non-specific X-linked mental retardation
has OBO namespace: disease_ontology
id: DOID:0050776
in subset: DO FlyBase slim
in subset: DO rare slim
comment: Xref MGI.

Axiom
annotated source: non-syndromic X-linked intellectual disability
annotated property: IAO_0000115
annotated target: A non-syndromic intellectual disability characterized by a X-linked inheritance pattern.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7011032

hydrolethalus syndrome
type: Class
IAO_0000115: A syndrome characterized by multiple 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.
creation date: 2013-06-24T12:50:06Z
has db xref: GARD:6683
has db xref: ICD10CM:Q87.8
has db xref: MESH:C536079
has db xref: MIM:PS236680
has db xref: ORDO:2189
has exact synonym: Salonen-Herva-Norio syndrome
has OBO namespace: disease_ontology
id: DOID:0050779
in subset: DO FlyBase slim
in subset: DO rare slim
comment: Xref MGI.

Axiom
annotated source: hydrolethalus syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by multiple 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.
type: ECO_0007645
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15843405

juvenile polyposis syndrome
type: Class
IAO_0000115: 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.
creation date: 2013-11-12T11:25:28Z
has db xref: GARD:3065
has db xref: MESH:C537702
has db xref: MIM:174900
has OBO namespace: disease_ontology
id: DOID:0050787
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: DO rare slim

Axiom
annotated source: juvenile polyposis syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007646
has db xref: url:http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome
has db xref: url:http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1469/

familial encephalopathy with neuroserpin inclusion bodies
type: Class
subclass of: neurodegenerative disease
IAO_0000115: 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.
creation date: 2014-02-24T10:14:57Z
has db xref: GARD:10037
has db xref: MESH:C536841
has db xref: MIM:604218
has exact synonym: FENIB
has OBO namespace: disease_ontology
id: DOID:0050831
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: familial encephalopathy with neuroserpin inclusion bodies
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
has db xref: url:http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies
has db xref: url:http://www.jbc.org/content/277/19/17367
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport

Axiom
annotated source: familial encephalopathy with neuroserpin inclusion bodies
annotated property: hasExactSynonym
annotated target: FENIB
has synonym type: OMO_0003012

CHARGE syndrome
type: Class
IAO_0000115: A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
creation date: 2014-03-18T11:58:38Z
has db xref: GARD:29
has db xref: MESH:D058747
has db xref: MIM:214800
has db xref: NCI:C75100
has db xref: ORDO:138
has db xref: SNOMEDCT_US_2023_03_01:47535005
has db xref: UMLS_CUI:C0265354
has db xref: UMLS_CUI:C2936502
has exact synonym: CHARGE association
has OBO namespace: disease_ontology
id: DOID:0050834
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: CHARGE syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/CHARGE_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/charge-syndrome
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract

generalized dystonia
type: Class
subclass of: dystonia
IAO_0000115: A dystonia that affects most or all of the body.
creation date: 2014-03-18T01:13:36Z
has alternative id: DOID:11910
has alternative id: DOID:11911
has alternative id: DOID:11912
has alternative id: DOID:14164
has alternative id: DOID:5159
has alternative id: DOID:531
has db xref: ICD10CM:G24.1
has db xref: ICD10CM:G24.2
has db xref: ICD9CM:333.6
has db xref: ICD9CM:333.8
has db xref: MESH:D004422
has db xref: MESH:D020821
has db xref: NCI:C34564
has db xref: NCI:C35437
has db xref: NCI:C35438
has db xref: NCI:C35527
has db xref: SNOMEDCT_US_2023_03_01:192852006
has db xref: SNOMEDCT_US_2023_03_01:192859002
has db xref: SNOMEDCT_US_2023_03_01:22451001
has db xref: SNOMEDCT_US_2023_03_01:230321007
has db xref: SNOMEDCT_US_2023_03_01:267584007
has db xref: UMLS_CUI:C0013423
has db xref: UMLS_CUI:C0154674
has db xref: UMLS_CUI:C0154675
has db xref: UMLS_CUI:C0393598
has db xref: UMLS_CUI:C0393601
has db xref: UMLS_CUI:C0752207
has exact synonym: familial dystonia
has exact synonym: fragments of torsion dystonia
has OBO namespace: disease_ontology
has related synonym: Dystonia 12
id: DOID:0050835
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: MESH:C538001 added from NeuroDevNet [WAK].

Axiom
annotated source: generalized dystonia
annotated property: IAO_0000115
annotated target: A dystonia that affects most or all of the body.
type: ECO_0007637
has db xref: url:http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm

Axiom
annotated source: generalized dystonia
annotated property: hasRelatedSynonym
annotated target: Dystonia 12
has db xref: MESH:C538001

fragile X-associated tremor/ataxia syndrome
type: Class
subclass of: neurodegenerative disease
IAO_0000115: 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.
creation date: 2014-08-04T01:52:12Z
has db xref: MIM:300623
has exact synonym: FXTAS syndrome
has OBO namespace: disease_ontology
id: DOID:0050879
in subset: DO FlyBase slim

Axiom
annotated source: fragile X-associated tremor/ataxia syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome
has db xref: url:http://omim.org/entry/300623
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/18195136

Koolen de Vries syndrome
type: Class
IAO_0000115: 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.
creation date: 2014-08-06T12:57:12Z
has alternative id: DOID:0070076
has db xref: GARD:10727
has db xref: MIM:610443
has db xref: ORDO:96169
has exact synonym: 17q21.31 microdeletion syndrome
has exact synonym: KANSL1-related intellectual disability syndrome
has exact synonym: KdVS
has exact synonym: Koolen-De Vries syndrome
has OBO namespace: disease_ontology
id: DOID:0050880
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: Koolen de Vries syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome
has db xref: url:http://omim.org/entry/610443
has db xref: url:http://www.17q21.com/en/
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK24676/
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19447831
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22544363
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22544367

Axiom
annotated source: Koolen de Vries syndrome
annotated property: hasExactSynonym
annotated target: KdVS
has synonym type: OMO_0003012

inclusion body myopathy with Paget disease of bone and frontotemporal dementia
type: Class
IAO_0000115: 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.
creation date: 2014-08-06T02:30:16Z
has db xref: MESH:C563476
has db xref: MIM:PS167320
has db xref: ORDO:52430
has exact synonym: IBMPFD
has exact synonym: inclusion body myopathy with Paget's disease of bone and frontotemporal dementia
has OBO namespace: disease_ontology
id: DOID:0050881
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007645
has db xref: url:http://omim.org/entry/167320
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19380227
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21304887
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21892620

Axiom
annotated source: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
annotated property: hasExactSynonym
annotated target: IBMPFD
has synonym type: OMO_0003012

spinocerebellar ataxia 5
type: Class
subclass of: autosomal dominant cerebellar ataxia
IAO_0000115: 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.
creation date: 2014-08-06T03:51:03Z
has db xref: GARD:4953
has db xref: MIM:600224
has OBO namespace: disease_ontology
id: DOID:0050882
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: spinocerebellar ataxia 5
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007645
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20368622

infantile cerebellar-retinal degeneration
type: Class
subclass of: neurodegenerative disease
IAO_0000115: 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.
creation date: 2014-08-06T04:09:42Z
has db xref: GARD:13264
has db xref: MIM:614559
has OBO namespace: disease_ontology
id: DOID:0050883
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: infantile cerebellar-retinal degeneration
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007645
has db xref: url:http://omim.org/entry/614559
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850
has db xref: url:http://www.uniprot.org/diseases/DI-03409
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22405087
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23438437

triosephosphate isomerase deficiency
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: 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.
creation date: 2014-08-07T11:44:31Z
has db xref: GARD:5287
has db xref: MESH:C566029
has db xref: MIM:615512
has exact synonym: Triose phosphate-isomerase deficiency
has OBO namespace: disease_ontology
id: DOID:0050884
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: triosephosphate isomerase deficiency
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency
has db xref: url:http://omim.org/entry/615512
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16980388
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17424909
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23318931

IMAGe syndrome
type: Class
IAO_0000115: 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.
creation date: 2014-08-07T12:04:30Z
has db xref: GARD:12312
has db xref: MIM:614732
has exact synonym: intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
has OBO namespace: disease_ontology
id: DOID:0050885
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: IMAGe syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007645
has db xref: url:http://omim.org/entry/614732
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/14760276
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22634751
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23719190
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/24065356

Troyer syndrome
type: Class
subclass of: hereditary spastic paraplegia
IAO_0000115: 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.
creation date: 2014-08-07T12:18:56Z
has db xref: GARD:5372
has db xref: ICD10CM:G11.4
has db xref: MIM:275900
has db xref: ORDO:101000
has exact synonym: SPG20
has exact synonym: autosomal recessive spastic paraplegia 20
has exact synonym: autosomal recessive spastic paraplegia Troyer type
has exact synonym: autosomal recessive spastic paraplegia type 20
has exact synonym: childhood-onset spastic paraparesis with distal muscle wasting
has exact synonym: hereditary spastic paraplegia 20
has exact synonym: spastic paraplegia 20
has exact synonym: spastic paraplegia type 20
has OBO namespace: disease_ontology
id: DOID:0050886
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: Troyer syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/SPG20
has db xref: url:http://ghr.nlm.nih.gov/condition/troyer-syndrome
has db xref: url:http://ghr.nlm.nih.gov/gene/SPG20
has db xref: url:http://omim.org/entry/275900
has db xref: 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
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/20301556

Axiom
annotated source: Troyer syndrome
annotated property: hasExactSynonym
annotated target: SPG20
has synonym type: OMO_0003012

Townes-Brocks syndrome
type: Class
IAO_0000115: A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
creation date: 2014-08-11T03:58:35Z
has db xref: GARD:7784
has db xref: MESH:C536974
has db xref: MIM:107480
has OBO namespace: disease_ontology
id: DOID:0050887
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: Townes-Brocks syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome
has db xref: url:http://www.omim.org/entry/107480
has db xref: 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
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12925729

syndromic intellectual disability
type: Class
subclass of: intellectual disability
IAO_0000115: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
creation date: 2014-08-14T10:55:32Z
has OBO namespace: disease_ontology
id: DOID:0050888
in subset: DO FlyBase slim

Axiom
annotated source: syndromic intellectual disability
annotated property: IAO_0000115
annotated target: An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Intellectual_disability

synucleinopathy
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
creation date: 2014-08-14T03:29:17Z
has exact synonym: Synucleinopathies
has exact synonym: alpha Synucleinopathies
has OBO namespace: disease_ontology
id: DOID:0050890
in subset: DO FlyBase slim

Axiom
annotated source: synucleinopathy
annotated property: IAO_0000115
annotated target: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Synucleinopathies

autism spectrum disorder
type: Class
IAO_0000115: 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.
has db xref: GARD:10248
has db xref: MESH:D000067877
has OBO namespace: disease_ontology
id: DOID:0060041
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: autism spectrum disorder
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Autism_spectrum_disorder
has db xref: url:http://www.neurodevnet.ca
has db xref: url:https://www.genome.gov/Genetic-Disorders/Autism

autoimmune disease of blood
type: Class
subclass of: immune system disease
IAO_0000115: 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.
has OBO namespace: disease_ontology
id: DOID:0060050
in subset: DO FlyBase slim

Axiom
annotated source: autoimmune disease of blood
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007646
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK459447/
comment: ls:IEDB

organ system benign neoplasm
type: Class
subclass of: disease of cellular proliferation
IAO_0000115: A benign neoplasm that is classified by the organ system from which it is arising from.
creation date: 2011-07-14T12:12:23Z
has db xref: NCI:C3677
has OBO namespace: disease_ontology
id: DOID:0060085
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: organ system benign neoplasm
annotated property: IAO_0000115
annotated target: A benign neoplasm that is classified by the organ system from which it is arising from.
type: ECO_0007636
has db xref: url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3677

brain glioma
type: Class
subclass of: brain cancer
IAO_0000115: A brain cancer that has_material_basis_in glial cells.
creation date: 2011-07-22T12:42:50Z
has exact synonym: lower grade glioma
has OBO namespace: disease_ontology
id: DOID:0060108
in subset: DO FlyBase slim
in subset: DO cancer slim

Axiom
annotated source: brain glioma
annotated property: IAO_0000115
annotated target: A brain cancer that has_material_basis_in glial cells.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://cancergenome.nih.gov/cancersselected/lowergradeglioma
has db xref: url:http://www.cancer.gov/dictionary?CdrID=45700

childhood spinal muscular atrophy
type: Class
subclass of: spinal muscular atrophy
IAO_0000115: 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.
creation date: 2011-08-29T01:15:14Z
has db xref: GARD:7674
has db xref: MESH:D014897
has db xref: NCI:C85076
has db xref: ORDO:70
has db xref: UMLS_CUI:C0700595
has exact synonym: spinal muscular atrophies of childhood
has exact synonym: survival motor neuron spinal muscular atrophy
has OBO namespace: disease_ontology
id: DOID:0060160
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: childhood spinal muscular atrophy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy

Kennedy's disease
type: Class
subclass of: spinal muscular atrophy
IAO_0000115: 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.
creation date: 2011-08-29T01:31:03Z
has db xref: GARD:6818
has db xref: MESH:D055534
has db xref: MIM:313200
has db xref: NCI:C85233
has db xref: SNOMEDCT_US_2023_03_01:230253001
has db xref: UMLS_CUI:C1839259
has exact synonym: Kennedy disease
has exact synonym: SBMA
has exact synonym: Spinobulbar Muscular Atrophy
has exact synonym: X-Linked Bulbo-Spinal Atrophy
has exact synonym: X-linked Spinal and Bulbar Muscular Atrophy
has exact synonym: spinal bulbar muscular atrophy
has OBO namespace: disease_ontology
id: DOID:0060161
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Kennedy's disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Kennedy_disease

Axiom
annotated source: Kennedy's disease
annotated property: hasExactSynonym
annotated target: SBMA
has synonym type: OMO_0003012

dentatorubral-pallidoluysian atrophy
type: Class
subclass of: autosomal dominant cerebellar ataxia
IAO_0000115: 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.
creation date: 2011-08-29T01:41:48Z
has db xref: GARD:5643
has db xref: MESH:D020191
has db xref: MIM:125370
has db xref: NCI:C122653
has db xref: SNOMEDCT_US_2023_03_01:702422004
has db xref: UMLS_CUI:C0751781
has exact synonym: DRPLA
has exact synonym: Haw River Syndrome
has exact synonym: Naito-Oyanagi disease
has OBO namespace: disease_ontology
id: DOID:0060162
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: dentatorubral-pallidoluysian atrophy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy

Axiom
annotated source: dentatorubral-pallidoluysian atrophy
annotated property: hasExactSynonym
annotated target: DRPLA
has synonym type: OMO_0003012

generalized epilepsy with febrile seizures plus
type: Class
subclass of: epilepsy
IAO_0000115: An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
creation date: 2011-10-28T02:57:50Z
has db xref: ICD10CM:G40.3
has db xref: MESH:C565808
has db xref: ORDO:36387
has exact synonym: GEFS+
has OBO namespace: disease_ontology
id: DOID:0060170
in subset: DO FlyBase slim
in subset: DO rare slim
comment: Xref MGI.

Axiom
annotated source: generalized epilepsy with febrile seizures plus
annotated property: IAO_0000115
annotated target: An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22011963

Axiom
annotated source: generalized epilepsy with febrile seizures plus
annotated property: hasExactSynonym
annotated target: GEFS+
has synonym type: OMO_0003012

familial hemiplegic migraine
type: Class
IAO_0000115: 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.
creation date: 2011-11-08T02:54:32Z
has db xref: GARD:10975
has db xref: ICD10CM:G43.8
has db xref: ICD9CM:346.8
has db xref: ORDO:569
has db xref: SNOMEDCT_US_2023_03_01:193037008
has db xref: UMLS_CUI:C0477373
has OBO namespace: disease_ontology
id: DOID:0060178
in subset: DO FlyBase slim
in subset: DO rare slim
comment: Xref MGI.

Axiom
annotated source: familial hemiplegic migraine
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine

Renpenning syndrome
type: Class
subclass of: syndromic intellectual disability
IAO_0000115: 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.
creation date: 2011-11-08T03:21:30Z
has db xref: ICD10CM:Q87.5
has db xref: MIM:309500
has db xref: ORDO:3242
has exact synonym: Golabi-Ito-Hall syndrome
has exact synonym: Sutherland-Haan X-linked mental retardation syndrome
has exact synonym: X-linked intellectual disability due to PQBP1 mutations
has exact synonym: X-linked intellectual disability, Renpenning type
has exact synonym: X-linked mental retardation Renpenning type
has exact synonym: X-linked mental retardation with spastic diplegia
has exact synonym: syndromic X-linked mental retardation 8
has OBO namespace: disease_ontology
id: DOID:0060179
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: Renpenning syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Renpenning%27s_syndrome

xanthinuria
type: Class
IAO_0000115: 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.
creation date: 2015-01-27T14:10:42Z
has db xref: ICD10CM:E79.8
has db xref: MIM:PS278300
has db xref: ORDO:3467
has db xref: SNOMEDCT_US_2023_03_01:190919008
has db xref: UMLS_CUI:C0220988
has exact synonym: classic xanthinuria
has exact synonym: hereditary xanthinuria
has exact synonym: xanthine dehydrogenase deficiency
has exact synonym: xanthine oxidase deficiency
has OBO namespace: disease_ontology
id: DOID:0060236
in subset: DO FlyBase slim
in subset: DO rare slim
comment: NT MGI.

Axiom
annotated source: xanthinuria
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
type: ECO_0007640
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Xanthinuria
has db xref: url:https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/4369449

CEDNIK syndrome
type: Class
IAO_0000115: 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.
creation date: 2015-05-11T10:31:37Z
has db xref: MESH:C537943
has db xref: MIM:609528
has db xref: ORDO:66631
has db xref: SNOMEDCT_US_2023_03_01:722385008
has db xref: UMLS_CUI:C1836033
has exact synonym: cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
has OBO namespace: disease_ontology
id: DOID:0060337
in subset: DO FlyBase slim
in subset: DO rare slim
comment: Flybase.

Axiom
annotated source: CEDNIK syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21073448

mitochondrial complex III deficiency nuclear type 2
type: Class
subclass of: mitochondrial metabolism disease
IAO_0000115: 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.
creation date: 2015-07-14T16:24:56Z
has db xref: MIM:615157
has exact synonym: MC3DN2
has OBO namespace: disease_ontology
id: DOID:0060351
in subset: DO FlyBase slim

Axiom
annotated source: mitochondrial complex III deficiency nuclear type 2
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007645
has db xref: url:http://www.omim.org/entry/615157
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21278747

Axiom
annotated source: mitochondrial complex III deficiency nuclear type 2
annotated property: hasExactSynonym
annotated target: MC3DN2
has synonym type: OMO_0003012

Kleefstra syndrome 1
type: Class
subclass of: Kleefstra syndrome
IAO_0000115: 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.
creation date: 2015-07-14T16:49:09Z
has alternative id: DOID:0070075
has db xref: GARD:8672
has db xref: MESH:C563043
has db xref: MIM:610253
has db xref: NCI:C129976
has db xref: ORDO:261494
has db xref: UMLS_CUI:C0795833
has exact synonym: 9q subtelomeric deletion syndrome
has exact synonym: 9q-syndrome
has exact synonym: 9q34 deletion syndrome
has OBO namespace: disease_ontology
id: DOID:0060352
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Kleefstra syndrome 1
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/9q34_deletion_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15264279
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16826528
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21245904

glycerol kinase deficiency
type: Class
IAO_0000115: 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.
creation date: 2015-09-17T15:45:20Z
has db xref: MIM:307030
has db xref: ORDO:408
has db xref: SNOMEDCT_US_2023_03_01:297256008
has db xref: UMLS_CUI:C0574108
has OBO namespace: disease_ontology
id: DOID:0060363
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: glycerol kinase deficiency
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/22427807

Pitt-Hopkins syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:4372
has db xref: MESH:C537403
has db xref: MIM:610954
has db xref: NCI:C129872
has db xref: ORDO:2896
has db xref: SNOMEDCT_US_2023_03_01:702344008
has db xref: UMLS_CUI:C1970431
has OBO namespace: disease_ontology
id: DOID:0060488
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Pitt-Hopkins syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome
has db xref: url:https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/17436255
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26621827
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/728011

myofibrillar myopathy 1
type: Class
subclass of: myopathy
IAO_0000115: A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
creation date: 2015-11-10T16:59:22Z
has alternative id: DOID:0110286
has db xref: ICD10CM:G71.0
has db xref: MIM:601419
has db xref: ORDO:363543
has exact synonym: autosomal recessive limb-girdle muscular dystrophy type 2R
has exact synonym: desminopathy
has OBO namespace: disease_ontology
id: DOID:0080092
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: myofibrillar myopathy 1
annotated property: IAO_0000115
annotated target: A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/23687351

Dravet syndrome
type: Class
subclass of: epilepsy
IAO_0000115: 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.
has alternative id: DOID:0060171
has db xref: GARD:10430
has db xref: MIM:607208
has db xref: ORDO:33069
has exact synonym: DEE6
has exact synonym: DEE6A
has exact synonym: developmental and epileptic encephalopathy 6
has exact synonym: developmental and epileptic encephalopathy 6A
has exact synonym: early infantile epileptic encephalopathy 6
has exact synonym: severe myoclonic epilepsy of infancy
has OBO namespace: disease_ontology
id: DOID:0080422
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: Dravet syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27544470/
has db xref: url:https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/11359211

Axiom
annotated source: Dravet syndrome
annotated property: hasExactSynonym
annotated target: DEE6
has synonym type: OMO_0003012

Axiom
annotated source: Dravet syndrome
annotated property: hasExactSynonym
annotated target: DEE6A
has synonym type: OMO_0003012

Kleefstra syndrome
type: Class
IAO_0000115: A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.
has db xref: MIM:PS610253
has OBO namespace: disease_ontology
id: DOID:0080597
in subset: DO FlyBase slim

Axiom
annotated source: Kleefstra syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone.
has db xref: url:http://ghr.nlm.nih.gov/condition/kleefstra-syndrome

neuronal ceroid lipofuscinosis 3
type: Class
subclass of: neuronal ceroid lipofuscinosis
IAO_0000115: 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.
has alternative id: DOID:0050756
has db xref: GARD:5897
has db xref: ICD10CM:E75.4
has db xref: MIM:204200
has db xref: ORDO:228346
has exact synonym: Batten disease
has exact synonym: CLN3
has exact synonym: juvenile neuronal ceroid lipofuscinosis
has OBO namespace: disease_ontology
id: DOID:0110731
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: neuronal ceroid lipofuscinosis 3
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/cln3-disease
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15965709
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/7553855

Axiom
annotated source: neuronal ceroid lipofuscinosis 3
annotated property: hasExactSynonym
annotated target: CLN3
has synonym type: OMO_0003012

sensorineural hearing loss
type: Class
subclass of: auditory system disease
IAO_0000115: An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
has alternative id: DOID:11053
has alternative id: DOID:12112
has alternative id: DOID:12114
has db xref: ICD10CM:H90.5
has db xref: ICD9CM:389.1
has db xref: MESH:D006319
has db xref: NCI:C26739
has db xref: SNOMEDCT_US_2023_03_01:60700002
has db xref: UMLS_CUI:C0018784
has exact synonym: High Frequency Hearing Loss
has exact synonym: High frequency deafness
has exact synonym: Perceptive deafness
has exact synonym: Perceptive hearing loss
has exact synonym: Perceptive hearing loss or deafness
has exact synonym: Sensorineural Deafness
has exact synonym: Sensory hearing loss
has exact synonym: central hearing loss
has exact synonym: high-frequency hearing loss
has OBO namespace: disease_ontology
id: DOID:10003
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: sensorineural hearing loss
annotated property: IAO_0000115
annotated target: An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.
has db xref: url:https://medlineplus.gov/ency/article/003291.htm

multiple endocrine neoplasia type 2B
type: Class
IAO_0000115: 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.
has db xref: ICD10CM:E31.23
has db xref: ICD9CM:258.03
has db xref: MESH:D018814
has db xref: MIM:162300
has db xref: NCI:C3227
has db xref: ORDO:247709
has db xref: SNOMEDCT_US_2023_03_01:61530001
has db xref: UMLS_CUI:C0025269
has exact synonym: MEN type IIB
has exact synonym: MEN2B
has exact synonym: Multiple endocrine neoplasia, type 3
has exact synonym: Wagenmann-Froboese syndrome
has exact synonym: mucosal neuroma syndrome
has OBO namespace: disease_ontology
id: DOID:10016
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: multiple endocrine neoplasia type 2B
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b
has db xref: url:http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia
has db xref: url:http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15965261
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract

Axiom
annotated source: multiple endocrine neoplasia type 2B
annotated property: hasExactSynonym
annotated target: MEN2B
has synonym type: OMO_0003012

prostate cancer
type: Class
subclass of: cancer
IAO_0000115: A male reproductive organ cancer that is located_in the prostate.
has alternative id: DOID:514
has db xref: ICD10CM:C61
has db xref: ICD9CM:185
has db xref: KEGG:05215
has db xref: MESH:D011471
has db xref: MIM:176807
has db xref: MIM:300147
has db xref: MIM:300704
has db xref: MIM:601518
has db xref: MIM:602759
has db xref: MIM:608656
has db xref: MIM:608658
has db xref: MIM:609299
has db xref: MIM:609558
has db xref: MIM:610321
has db xref: MIM:610997
has db xref: MIM:611100
has db xref: MIM:611868
has db xref: MIM:611928
has db xref: MIM:611955
has db xref: MIM:611958
has db xref: MIM:611959
has db xref: NCI:C3343
has db xref: NCI:C7378
has db xref: ORDO:1331
has db xref: SNOMEDCT_US_2023_03_01:126906006
has db xref: SNOMEDCT_US_2023_03_01:93974005
has db xref: UMLS_CUI:C0033578
has db xref: UMLS_CUI:C0376358
has exact synonym: NGP - new growth of prostate
has exact synonym: hereditary prostate cancer
has exact synonym: malignant tumor of the prostate
has exact synonym: prostate cancer, familial
has exact synonym: prostate neoplasm
has exact synonym: prostatic cancer
has exact synonym: prostatic neoplasm
has exact synonym: tumor of the prostate
has OBO namespace: disease_ontology
id: DOID:10283
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: prostate cancer
annotated property: IAO_0000115
annotated target: A male reproductive organ cancer that is located_in the prostate.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=445079
has db xref: url:https://www.genome.gov/Genetic-Disorders/Prostate-Cancer

bacterial infectious disease
type: Class
IAO_0000115: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
has db xref: ICD10CM:A49.9
has db xref: MESH:D001424
has db xref: NCI:C2890
has db xref: SNOMEDCT_US_2023_03_01:87628006
has db xref: UMLS_CUI:C0004623
has OBO namespace: disease_ontology
id: DOID:104
in subset: DO AGR slim
in subset: DO FlyBase slim
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: bacterial infectious disease
annotated property: IAO_0000115
annotated target: A disease by infectious agent that results_in infection, has_material_basis_in Bacteria.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pathogenic_bacteria

stomach cancer
type: Class
subclass of: gastrointestinal system cancer
IAO_0000115: A gastrointestinal system cancer that is located_in the stomach.
has alternative id: DOID:10539
has alternative id: DOID:10542
has alternative id: DOID:10543
has alternative id: DOID:4713
has db xref: GARD:7704
has db xref: ICD10CM:C16
has db xref: ICD10CM:C16.2
has db xref: ICD10CM:C16.5
has db xref: ICD10CM:C16.6
has db xref: ICD9CM:151
has db xref: ICD9CM:151.4
has db xref: ICD9CM:151.5
has db xref: ICD9CM:151.6
has db xref: MESH:D013274
has db xref: MIM:613659
has db xref: NCI:C3387
has db xref: NCI:C9331
has db xref: SNOMEDCT_US_2023_03_01:126824007
has db xref: SNOMEDCT_US_2023_03_01:269459004
has db xref: SNOMEDCT_US_2023_03_01:269460009
has db xref: SNOMEDCT_US_2023_03_01:93717002
has db xref: SNOMEDCT_US_2023_03_01:94074003
has db xref: UMLS_CUI:C0024623
has db xref: UMLS_CUI:C0038356
has db xref: UMLS_CUI:C0153421
has db xref: UMLS_CUI:C0153422
has db xref: UMLS_CUI:C0153423
has exact synonym: gastric cancer
has exact synonym: gastric neoplasm
has OBO namespace: disease_ontology
id: DOID:10534
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: stomach cancer
annotated property: IAO_0000115
annotated target: A gastrointestinal system cancer that is located_in the stomach.
type: ECO_0007638
has db xref: url:http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer
has db xref: url:http://en.wikipedia.org/wiki/Stomach

retinitis pigmentosa
type: Class
subclass of: retinal degeneration
IAO_0000115: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
has alternative id: DOID:14742
has db xref: GARD:5694
has db xref: ICD10CM:H35.52
has db xref: MESH:C538365
has db xref: MESH:D012174
has db xref: MIM:268000
has db xref: MIM:PS268000
has db xref: NCI:C85045
has db xref: ORDO:791
has db xref: SNOMEDCT_US_2023_03_01:155113002
has db xref: UMLS_CUI:C0035334
has db xref: UMLS_CUI:C0220701
has exact synonym: pericentral pigmentary retinopathy
has OBO namespace: disease_ontology
id: DOID:10584
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: retinitis pigmentosa
annotated property: IAO_0000115
annotated target: A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Retinitis_pigmentosa
has db xref: url:http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/
has db xref: url:https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa

intellectual disability
type: Class
IAO_0000115: 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.
has db xref: NCI:C84392
has db xref: SNOMEDCT_US_2023_03_01:1855002
has db xref: UMLS_CUI:C0025362
has OBO namespace: disease_ontology
has related synonym: mental retardation
id: DOID:1059
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping submitted by NeuroDevNet. [LS].

Axiom
annotated source: intellectual disability
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU
has db xref: url:https://en.wikipedia.org/wiki/Intellectual_disability

Charcot-Marie-Tooth disease
type: Class
IAO_0000115: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
has db xref: GARD:6034
has db xref: ICD10CM:G60.0
has db xref: ICD9CM:356.1
has db xref: MESH:D002607
has db xref: MIM:PS118220
has db xref: NCI:C75467
has db xref: SNOMEDCT_US_2023_03_01:193158000
has db xref: UMLS_CUI:C0007959
has exact synonym: CMT - Charcot-Marie-Tooth disease
has OBO namespace: disease_ontology
id: DOID:10595
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Charcot-Marie-Tooth disease
annotated property: IAO_0000115
annotated target: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
type: ECO_0007637
has db xref: url:https://www.genome.gov/11009201
has db xref: url:https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease

microcephaly
type: Class
IAO_0000115: A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
has db xref: GARD:3603
has db xref: GARD:7038
has db xref: ICD10CM:Q02
has db xref: ICD9CM:742.1
has db xref: MESH:D008831
has db xref: NCI:C85874
has db xref: SNOMEDCT_US_2023_03_01:156893009
has db xref: UMLS_CUI:C0025958
has exact synonym: Microcephalus
has exact synonym: microencephaly
has OBO namespace: disease_ontology
id: DOID:10907
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: microcephaly
annotated property: IAO_0000115
annotated target: A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.
has db xref: url:https://en.wikipedia.org/wiki/Microcephaly

amnestic disorder
type: Class
IAO_0000115: 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.
has alternative id: DOID:4544
has db xref: ICD10CM:R41.3
has db xref: ICD9CM:294.0
has db xref: MESH:D000647
has db xref: NCI:C2867
has db xref: SNOMEDCT_US_2023_03_01:247606008
has db xref: SNOMEDCT_US_2023_03_01:3298001
has db xref: UMLS_CUI:C0002622
has db xref: UMLS_CUI:C0002625
has exact synonym: Amnestic syndrome
has exact synonym: Korsakoff's psychosis or syndrome
has exact synonym: amnesia
has OBO namespace: disease_ontology
id: DOID:10914
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: amnestic disorder
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Amnesia
has db xref: url:http://www.minddisorders.com/A-Br/Amnestic-disorders.html

heart disease
type: Class
IAO_0000115: A cardiovascular system disease that involves the heart.
has db xref: ICD10CM:I51.9
has db xref: ICD9CM:429.9
has db xref: MESH:D006331
has db xref: NCI:C3079
has db xref: SNOMEDCT_US_2023_03_01:194707003
has db xref: UMLS_CUI:C0018799
has OBO namespace: disease_ontology
id: DOID:114
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: heart disease
annotated property: IAO_0000115
annotated target: A cardiovascular system disease that involves the heart.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Heart_disease

neonatal diabetes mellitus
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.
has db xref: ICD10CM:P70.2
has db xref: ICD9CM:775.1
has db xref: NCI:C99248
has db xref: SNOMEDCT_US_2023_03_01:49817004
has db xref: UMLS_CUI:C0158981
has exact synonym: diabetes mellitus syndrome in newborn infant
has exact synonym: neonatal diabetes
has OBO namespace: disease_ontology
id: DOID:11717
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: neonatal diabetes mellitus
annotated property: IAO_0000115
annotated target: A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life.
has db xref: url:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/

oculopharyngeal muscular dystrophy
type: Class
subclass of: muscular dystrophy
has db xref: ICD10CM:G71.09
has db xref: MESH:D039141
has db xref: MIM:164300
has db xref: NCI:C84942
has db xref: SNOMEDCT_US_2023_03_01:77097004
has db xref: UMLS_CUI:C0270952
has exact synonym: Muscular dystrophy, oculopharyngeal
has OBO namespace: disease_ontology
id: DOID:11719
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

myotonic dystrophy type 1
type: Class
subclass of: myotonic disease
IAO_0000115: 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.
has db xref: GARD:8310
has db xref: ICD10CM:G71.11
has db xref: ICD9CM:359.21
has db xref: MESH:D009223
has db xref: MIM:160900
has db xref: NCI:C84914
has db xref: SNOMEDCT_US_2023_03_01:1177122009
has db xref: UMLS_CUI:C0027126
has exact synonym: Dystrophia myotonica
has exact synonym: Steinert disease
has exact synonym: congenital myotonic dystrophy
has exact synonym: myotonic dystrophy of Steinert
has OBO namespace: disease_ontology
id: DOID:11722
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: myotonic dystrophy type 1
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007646
has db xref: url:http://en.wikipedia.org/wiki/Myotonic_dystrophy
has db xref: url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy
has db xref: url:http://omim.org/entry/160900
has db xref: url:http://www.genome.gov/25521207
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1165/

Duchenne muscular dystrophy
type: Class
subclass of: muscular dystrophy
IAO_0000115: 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.
has db xref: GARD:6291
has db xref: MESH:D020388
has db xref: MIM:310200
has db xref: NCI:C75482
has db xref: SNOMEDCT_US_2023_03_01:155095006
has db xref: UMLS_CUI:C0013264
has exact synonym: Muscular dystrophy, Duchenne
has OBO namespace: disease_ontology
id: DOID:11723
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Duchenne muscular dystrophy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy
has db xref: url:http://omim.org/entry/300377
has db xref: url:http://www.genome.gov/19518854

facioscapulohumeral muscular dystrophy
type: Class
subclass of: muscular dystrophy
has db xref: GARD:9941
has db xref: ICD10CM:G71.02
has db xref: MESH:D020391
has db xref: NCI:C84704
has db xref: SNOMEDCT_US_2023_03_01:56096001
has db xref: UMLS_CUI:C0238288
has exact synonym: Landouzy Dejerine muscular dystrophy
has exact synonym: Landouzy-Dejerine muscular dystrophy
has exact synonym: Muscular dystrophy, Landouzy-Dejerine
has OBO namespace: disease_ontology
id: DOID:11727
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

spinal muscular atrophy
type: Class
subclass of: motor neuron disease
IAO_0000115: A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
has db xref: GARD:7674
has db xref: ICD10CM:G12.9
has db xref: ICD9CM:335.1
has db xref: MESH:D009134
has db xref: NCI:C85075
has db xref: SNOMEDCT_US_2023_03_01:5262007
has db xref: UMLS_CUI:C0026847
has OBO namespace: disease_ontology
id: DOID:12377
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: spinal muscular atrophy
annotated property: IAO_0000115
annotated target: A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Spinal_muscular_atrophy
has db xref: url:https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
has db xref: url:https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26022173

ataxia telangiectasia
type: Class
subclass of: neurodegenerative disease
IAO_0000115: 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.
has db xref: GARD:5862
has db xref: MESH:D001260
has db xref: MIM:208900
has db xref: NCI:C2887
has db xref: SNOMEDCT_US_2023_03_01:68504005
has db xref: UMLS_CUI:C0004135
has exact synonym: Boder-Sedgwick syndrome
has exact synonym: Louis Bar syndrome
has OBO namespace: disease_ontology
id: DOID:12704
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ataxia telangiectasia
annotated property: IAO_0000115
annotated target: 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.
has db xref: url:https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia

Friedreich ataxia
type: Class
subclass of: neurodegenerative disease
has alternative id: DOID:0050555
has db xref: GARD:6468
has db xref: ICD10CM:G11.11
has db xref: ICD9CM:334.0
has db xref: MESH:D005621
has db xref: NCI:C84718
has db xref: SNOMEDCT_US_2023_03_01:155011003
has db xref: UMLS_CUI:C0016719
has exact synonym: Friedreich's ataxia
has exact synonym: Friedreich's tabes
has OBO namespace: disease_ontology
id: DOID:12705
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Huntington's disease
type: Class
subclass of: neurodegenerative disease
IAO_0000115: 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.
has db xref: GARD:6677
has db xref: ICD10CM:G10
has db xref: ICD9CM:333.4
has db xref: KEGG:05016
has db xref: MESH:D006816
has db xref: MIM:143100
has db xref: NCI:C82342
has db xref: SNOMEDCT_US_2023_03_01:58756001
has db xref: UMLS_CUI:C0020179
has exact synonym: HD
has exact synonym: Huntington disease
has exact synonym: Huntington's chorea
has OBO namespace: disease_ontology
id: DOID:12858
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: Huntington's disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Huntington_disease

Axiom
annotated source: Huntington's disease
annotated property: hasExactSynonym
annotated target: HD
has synonym type: OMO_0003012

neurodegenerative disease
type: Class
IAO_0000115: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
has alternative id: DOID:4874
has db xref: ICD10CM:G31.9
has db xref: MESH:D019636
has db xref: NCI:C27090
has db xref: SNOMEDCT_US_2023_03_01:362975008
has db xref: UMLS_CUI:C0524851
has db xref: UMLS_CUI:C1285162
has exact synonym: degenerative disease
has OBO namespace: disease_ontology
id: DOID:1289
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: neurodegenerative disease
annotated property: IAO_0000115
annotated target: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Degenerative_disease
has db xref: url:http://en.wikipedia.org/wiki/Neurodegeneration

dilated cardiomyopathy
type: Class
subclass of: cardiomyopathy
IAO_0000115: An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
has db xref: EFO:0000407
has db xref: GARD:221
has db xref: ICD10CM:I42.0
has db xref: KEGG:05414
has db xref: MESH:D002311
has db xref: MIM:PS115200
has db xref: NCI:C84673
has db xref: ORDO:217604
has db xref: SNOMEDCT_US_2023_03_01:74368002
has db xref: UMLS_CUI:C0007193
has exact synonym: primary dilated cardiomyopathy
has OBO namespace: disease_ontology
has related synonym: Congestive cardiomyopathy
has related synonym: Familial dilated cardiomyopathy
has related synonym: Idiopathic dilation cardiomyopathy
id: DOID:12930
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: dilated cardiomyopathy
annotated property: hasRelatedSynonym
annotated target: Idiopathic dilation cardiomyopathy
has db xref: MESH:C536277

Axiom
annotated source: dilated cardiomyopathy
annotated property: IAO_0000115
annotated target: An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Dilated_cardiomyopathy

Axiom
annotated source: dilated cardiomyopathy
annotated property: hasRelatedSynonym
annotated target: Familial dilated cardiomyopathy
has db xref: MESH:C536231

brain cancer
type: Class
subclass of: cancer
IAO_0000115: A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
has alternative id: DOID:2125
has alternative id: DOID:2126
has alternative id: DOID:3543
has alternative id: DOID:6649
has alternative id: DOID:911
has db xref: ICD10CM:C71
has db xref: ICD9CM:191
has db xref: ICD9CM:239.6
has db xref: MESH:D001932
has db xref: NCI:C170814
has db xref: NCI:C2907
has db xref: NCI:C3568
has db xref: NCI:C5115
has db xref: NCI:C7710
has db xref: SNOMEDCT_US_2023_03_01:126952004
has db xref: SNOMEDCT_US_2023_03_01:428061005
has db xref: SNOMEDCT_US_2023_03_01:93727008
has db xref: UMLS_CUI:C0006118
has db xref: UMLS_CUI:C0153633
has db xref: UMLS_CUI:C0220624
has db xref: UMLS_CUI:C0750974
has db xref: UMLS_CUI:C0750979
has db xref: UMLS_CUI:C1334557
has exact synonym: BT - Brain tumour
has exact synonym: adult brain tumor
has exact synonym: adult malignant brain neoplasm
has exact synonym: brain neoplasm
has exact synonym: brain neoplasm, adult
has exact synonym: malignant brain tumour
has exact synonym: malignant primary brain neoplasm
has exact synonym: malignant primary brain tumor
has exact synonym: malignant tumor of Brain
has exact synonym: malignant tumor of adult brain
has exact synonym: neoplasm of brain
has exact synonym: primary brain neoplasm
has exact synonym: primary brain tumor
has exact synonym: primary malignant neoplasm of brain
has exact synonym: tumor of the Brain
has OBO namespace: disease_ontology
id: DOID:1319
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: brain cancer
annotated property: IAO_0000115
annotated target: A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=387264

alpha 1-antitrypsin deficiency
type: Class
IAO_0000115: 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.
has db xref: GARD:5784
has db xref: ICD10CM:E88.01
has db xref: ICD9CM:273.4
has db xref: MESH:D019896
has db xref: MIM:613490
has db xref: NCI:C84397
has db xref: SNOMEDCT_US_2023_03_01:30188007
has db xref: UMLS_CUI:C0221757
has exact synonym: AAT deficiency
has OBO namespace: disease_ontology
id: DOID:13372
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: alpha 1-antitrypsin deficiency
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
type: ECO_0007640
has db xref: url:http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency
has db xref: url:http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm
has db xref: url:https://alpha1.org/what-is-alpha1/
has db xref: url:https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency

fibrodysplasia ossificans progressiva
type: Class
IAO_0000115: 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.
has db xref: GARD:6445
has db xref: ICD10CM:M61.1
has db xref: ICD9CM:728.11
has db xref: MESH:D009221
has db xref: MIM:135100
has db xref: NCI:C3040
has db xref: ORDO:337
has db xref: SNOMEDCT_US_2023_03_01:82725007
has db xref: UMLS_CUI:C0016037
has exact synonym: Stone Man Syndrome
has exact synonym: myositis ossificans progressiva
has exact synonym: progressive myositis ossificans
has exact synonym: progressive ossifying myositis
has OBO namespace: disease_ontology
id: DOID:13374
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: fibrodysplasia ossificans progressiva
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva
has db xref: url:http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva
has db xref: url:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/
has db xref: url:https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva

tuberous sclerosis
type: Class
IAO_0000115: A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
has db xref: GARD:7830
has db xref: ICD10CM:Q85.1
has db xref: ICD9CM:759.5
has db xref: MESH:D014402
has db xref: MIM:PS191100
has db xref: NCI:C3424
has db xref: SNOMEDCT_US_2023_03_01:157033002
has db xref: UMLS_CUI:C0041341
has exact synonym: Bourneville's disease
has exact synonym: Epiloia
has exact synonym: Tuberose sclerosis
has exact synonym: Tuberous sclerosis complex
has exact synonym: Tuberous sclerosis syndrome
has exact synonym: cerebral sclerosis
has OBO namespace: disease_ontology
id: DOID:13515
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: tuberous sclerosis
annotated property: IAO_0000115
annotated target: A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms

Fanconi anemia
type: Class
IAO_0000115: 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.
has db xref: GARD:6425
has db xref: ICD10CM:D61.09
has db xref: MESH:D005199
has db xref: MIM:PS227650
has db xref: NCI:C62505
has db xref: ORDO:84
has db xref: SNOMEDCT_US_2023_03_01:30575002
has db xref: UMLS_CUI:C0015625
has exact synonym: Fanconi anaemia
has exact synonym: Fanconi pancytopenia
has exact synonym: Fanconi panmyelopathy
has exact synonym: Fanconi's anaemia
has exact synonym: Fanconi's anemia
has OBO namespace: disease_ontology
id: DOID:13636
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN]. OMIM mapping by NeuroDevNet. [LS].

Axiom
annotated source: Fanconi anemia
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Fanconi_anemia
has db xref: url:http://ghr.nlm.nih.gov/condition/fanconi-anemia

polyneuropathy
type: Class
IAO_0000115: 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.
has db xref: ICD10CM:A69.22
has db xref: MESH:D011115
has db xref: NCI:C26951
has db xref: SNOMEDCT_US_2023_03_01:193166009
has db xref: UMLS_CUI:C0152025
has OBO namespace: disease_ontology
id: DOID:1389
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: polyneuropathy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Polyneuropathy
has db xref: url:https://www.virginiamason.org/polyneuropathy

von Hippel-Lindau disease
type: Class
subclass of: organ system benign neoplasm
has db xref: GARD:7855
has db xref: ICD10CM:Q85.83
has db xref: MESH:D006623
has db xref: MIM:193300
has db xref: NCI:C3105
has db xref: SNOMEDCT_US_2023_03_01:46659004
has db xref: UMLS_CUI:C0019562
has exact synonym: Hippel Lindau syndrome
has exact synonym: von Hippel-Lindau syndrome
has OBO namespace: disease_ontology
id: DOID:14175
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

azoospermia
type: Class
IAO_0000115: A male infertility disease characterized by the absence of any measurable level of sperm in semen.
has db xref: EFO:0000279
has db xref: ICD10CM:N46.0
has db xref: ICD9CM:606.0
has db xref: MESH:D053713
has db xref: NCI:C80076
has db xref: ORDO:217034
has db xref: SNOMEDCT_US_2023_03_01:145008007
has db xref: UMLS_CUI:C0004509
has OBO namespace: disease_ontology
id: DOID:14227
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: azoospermia
annotated property: IAO_0000115
annotated target: A male infertility disease characterized by the absence of any measurable level of sperm in semen.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Azoospermia
has db xref: url:http://ghr.nlm.nih.gov/glossary=azoospermia

Down syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:10247
has db xref: ICD10CM:Q90
has db xref: ICD9CM:758.0
has db xref: MESH:D004314
has db xref: MIM:190685
has db xref: NCI:C2993
has db xref: ORDO:870
has db xref: SNOMEDCT_US_2023_03_01:41040004
has db xref: UMLS_CUI:C0013080
has exact synonym: Complete trisomy 21 syndrome
has exact synonym: Down's syndrome
has exact synonym: Down's syndrome - trisomy 21
has exact synonym: Downs syndrome
has exact synonym: G Trisomy
has exact synonym: trisomy 21 syndrome
has OBO namespace: disease_ontology
id: DOID:14250
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Down syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Down_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/down-syndrome
has db xref: url:http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/trisomy-21

fragile X syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:6464
has db xref: ICD10CM:Q99.2
has db xref: ICD9CM:759.83
has db xref: MESH:D005600
has db xref: MIM:300624
has db xref: NCI:C84717
has db xref: ORDO:908
has db xref: SNOMEDCT_US_2023_03_01:390007001
has db xref: UMLS_CUI:C0016667
has exact synonym: FRAGILE X MENTAL RETARDATION SYNDROME
has exact synonym: MARKER X SYNDROME
has exact synonym: MARTIN-BELL SYNDROME
has OBO namespace: disease_ontology
id: DOID:14261
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: fragile X syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Fragile_X_syndrome
has db xref: url:http://omim.org/entry/300624
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908

blindness
type: Class
subclass of: eye disease
IAO_0000115: An eye disease characterized by a lack or loss of vision.
has db xref: ICD10CM:H54
has db xref: ICD9CM:369
has db xref: SNOMEDCT_US_2023_03_01:193698004
has db xref: UMLS_CUI:C0155020
has exact synonym: vision impairment
has exact synonym: vision loss
has exact synonym: visual impairment
has OBO namespace: disease_ontology
id: DOID:1432
in subset: DO FlyBase slim

Axiom
annotated source: blindness
annotated property: IAO_0000115
annotated target: An eye disease characterized by a lack or loss of vision.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Visual_impairment
has db xref: url:https://nei.nih.gov/eyedata/blind
has db xref: url:https://www.cdc.gov/healthcommunication/toolstemplates/entertainmented/tips/Blindness.html

Parkinson's disease
type: Class
subclass of: synucleinopathy
IAO_0000115: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
has db xref: GARD:10251
has db xref: ICD10CM:G20
has db xref: ICD9CM:332
has db xref: KEGG:05012
has db xref: MESH:D010300
has db xref: MIM:PS168600
has db xref: NCI:C26845
has db xref: ORDO:2828
has db xref: SNOMEDCT_US_2023_03_01:49049000
has db xref: UMLS_CUI:C0030567
has exact synonym: Parkinson disease
has exact synonym: paralysis agitans
has OBO namespace: disease_ontology
id: DOID:14330
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Parkinson's disease
annotated property: IAO_0000115
annotated target: A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Parkinson%27s_disease
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/26474316/
has db xref: url:https://www.ncbi.nlm.nih.gov/articles/PMC5877503/

Machado-Joseph disease
type: Class
subclass of: autosomal dominant cerebellar ataxia
IAO_0000115: 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.
has db xref: GARD:6801
has db xref: MESH:D017827
has db xref: MIM:109150
has db xref: NCI:C84830
has db xref: ORDO:98757
has db xref: SNOMEDCT_US_2023_03_01:91952008
has db xref: UMLS_CUI:C0024408
has exact synonym: Azorean disease
has exact synonym: MJD
has exact synonym: SCA3
has exact synonym: spinocerebellar ataxia 3
has exact synonym: spinocerebellar ataxia type 3
has OBO namespace: disease_ontology
id: DOID:1440
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Machado-Joseph disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease

Axiom
annotated source: Machado-Joseph disease
annotated property: hasExactSynonym
annotated target: MJD
has synonym type: OMO_0003012

Axiom
annotated source: Machado-Joseph disease
annotated property: hasExactSynonym
annotated target: SCA3
has synonym type: OMO_0003012

autosomal dominant cerebellar ataxia
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
has alternative id: DOID:2478
has db xref: MESH:D020754
has db xref: MIM:PS164400
has db xref: NCI:C82341
has db xref: ORDO:94
has db xref: SNOMEDCT_US_2023_03_01:129609000
has db xref: UMLS_CUI:C0087012
has exact synonym: spinocerebellar ataxia
has OBO namespace: disease_ontology
id: DOID:1441
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: autosomal dominant cerebellar ataxia
annotated property: IAO_0000115
annotated target: A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance.
type: ECO_0007646
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK1138/
has db xref: url:http://www.ncbi.nlm.nih.gov/books/NBK22234/

neuronal ceroid lipofuscinosis
type: Class
subclass of: lysosomal storage disease
has db xref: GARD:10739
has db xref: ICD10CM:E75.4
has db xref: MESH:D009472
has db xref: MIM:PS256730
has db xref: NCI:C61257
has db xref: ORDO:216
has db xref: ORDO:79262
has db xref: SNOMEDCT_US_2023_03_01:42012007
has db xref: UMLS_CUI:C0027877
has exact synonym: hereditary ceroid lipofuscinosis
has OBO namespace: disease_ontology
id: DOID:14503
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].

Niemann-Pick disease
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
has alternative id: DOID:0050442
has alternative id: DOID:0050443
has alternative id: DOID:14770
has db xref: GARD:13334
has db xref: ICD10CM:E75.24
has db xref: MESH:D009542
has db xref: NCI:C61269
has db xref: SNOMEDCT_US_2023_03_01:58459009
has db xref: UMLS_CUI:C0028064
has exact synonym: Sphingomyelinase Deficiency Disease
has exact synonym: lipoid histiocytosis
has exact synonym: sphingomyelin lipidosis
has OBO namespace: disease_ontology
id: DOID:14504
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Niemann-Pick disease
annotated property: IAO_0000115
annotated target: A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Niemann-Pick_disease
has db xref: url:https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease

disease of cellular proliferation
type: Class
IAO_0000115: A disease that is characterized by abnormally rapid cell division.
OBI_9991118: neoplasm
has alternative id: DOID:0000818
has exact synonym: cell process disease
has exact synonym: neoplasm
has OBO namespace: disease_ontology
id: DOID:14566
in subset: DO FlyBase slim
in subset: DO RAD slim

Axiom
annotated source: disease of cellular proliferation
annotated property: IAO_0000115
annotated target: A disease that is characterized by abnormally rapid cell division.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/w/index.php?title=Cell_proliferation

branchiootorenal syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:10147
has db xref: MEDDRA:10071135
has db xref: MESH:D019280
has db xref: NCI:C98983
has db xref: SNOMEDCT_US_2023_03_01:290006
has db xref: UMLS_CUI:C0265234
has exact synonym: Branchio-Oto-renal syndrome
has exact synonym: Branchio-otorenal dysplasia
has exact synonym: Melnick-Fraser syndrome
has exact synonym: branchiootorenal dysplasia
has OBO namespace: disease_ontology
id: DOID:14702
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: branchiootorenal syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/263442

centronuclear myopathy
type: Class
subclass of: congenital structural myopathy
IAO_0000115: 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.
has db xref: GARD:101
has db xref: ICD10CM:G71.22
has db xref: MESH:D020914
has db xref: NCI:C84648
has db xref: ORDO:595
has db xref: ORDO:596
has db xref: ORDO:69186
has db xref: ORDO:69189
has db xref: SNOMEDCT_US_2023_03_01:193223007
has db xref: UMLS_CUI:C0175709
has exact synonym: myotubular myopathy
has OBO namespace: disease_ontology
id: DOID:14717
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: centronuclear myopathy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Centronuclear_myopathy
has db xref: url:http://ghr.nlm.nih.gov/condition/centronuclear-myopathy

olivopontocerebellar atrophy
type: Class
subclass of: neurodegenerative disease
IAO_0000115: 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.
has alternative id: DOID:12708
has db xref: MESH:D009849
has db xref: NCI:C84947
has db xref: SNOMEDCT_US_2023_03_01:67761004
has db xref: UMLS_CUI:C0028968
has exact synonym: Dejerine-Thomas syndrome
has exact synonym: Thomas' syndrome
has exact synonym: WADIA-SWAMI SYNDROME
has OBO namespace: disease_ontology
id: DOID:14784
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: olivopontocerebellar atrophy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:http://www.ninds.nih.gov/disorders/opca/opca.htm

Leber congenital amaurosis
type: Class
subclass of: eye disease
IAO_0000115: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
has db xref: GARD:634
has db xref: MESH:D057130
has db xref: MIM:PS204000
has db xref: NCI:C129075
has db xref: ORDO:65
has db xref: SNOMEDCT_US_2023_03_01:193413001
has db xref: UMLS_CUI:C0339527
has exact synonym: LCA
has exact synonym: Leber's amaurosis
has exact synonym: Leber's congenital amaurosis
has exact synonym: Leber's disease
has OBO namespace: disease_ontology
id: DOID:14791
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Leber congenital amaurosis
annotated property: IAO_0000115
annotated target: A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis

Axiom
annotated source: Leber congenital amaurosis
annotated property: hasExactSynonym
annotated target: LCA
has synonym type: OMO_0003012

cholera
type: Class
subclass of: primary bacterial infectious disease
IAO_0000115: 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.
has db xref: GARD:6043
has db xref: ICD10CM:A00
has db xref: ICD9CM:001
has db xref: MESH:D002771
has db xref: SNOMEDCT_US_2023_03_01:186087007
has db xref: UMLS_CUI:C0008354
has exact synonym: Cholera - Vibrio cholerae
has exact synonym: Cholera due to Vibrio cholerae
has exact synonym: Vibrio cholerae
has OBO namespace: disease_ontology
id: DOID:1498
in subset: DO FlyBase slim
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: GOLD
in subset: gram-negative bacterial infectious disease

Axiom
annotated source: cholera
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what
has db xref: url:http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html

alcohol use disorder
type: Class
IAO_0000115: A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
has db xref: ICD10CM:F10.1
has db xref: ICD9CM:305.0
has db xref: MESH:D000437
has db xref: NCI:C20701
has db xref: SNOMEDCT_US_2023_03_01:15167005
has db xref: UMLS_CUI:C0085762
has exact synonym: Ethanol abuse
has exact synonym: alcohol abuse
has OBO namespace: disease_ontology
id: DOID:1574
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: alcohol use disorder
annotated property: IAO_0000115
annotated target: A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Alcohol_abuse
has db xref: url:https://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders

cancer
type: Class
subclass of: disease of cellular proliferation
IAO_0000115: A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
has db xref: ICD10CM:C80.1
has db xref: ICD9CM:199
has db xref: ICDO:8000/3
has db xref: MESH:D009369
has db xref: NCI:C9305
has db xref: SNOMEDCT_US_2023_03_01:269513004
has db xref: UMLS_CUI:C0006826
has exact synonym: malignant neoplasm
has exact synonym: malignant tumor
has exact synonym: primary cancer
has OBO namespace: disease_ontology
id: DOID:162
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO GXD slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
comment: Updating out dated UMLS CUI.

Axiom
annotated source: cancer
annotated property: IAO_0000115
annotated target: A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis.
type: ECO_0007638
type: ECO_0007643
has db xref: url:http://en.wikipedia.org/wiki/cancer
has db xref: url:https://www.merriam-webster.com/dictionary/cancer#medicalDictionary

congenital heart disease
type: Class
IAO_0000115: A physical disorder that is characterized by problems with the heart's structure that are present at birth.
has db xref: ICD10CM:Q24.9
has db xref: ICD9CM:746.9
has db xref: MESH:D006330
has db xref: NCI:C34666
has db xref: SNOMEDCT_US_2023_03_01:268315002
has db xref: UMLS_CUI:C0018798
has exact synonym: Congenital Heart Defects
has exact synonym: Congenital anomaly of heart
has exact synonym: Heart Malformation
has exact synonym: congenital heart defect
has exact synonym: heart defect
has OBO namespace: disease_ontology
has related synonym: Heart-congenital defect
id: DOID:1682
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: congenital heart disease
annotated property: IAO_0000115
annotated target: A physical disorder that is characterized by problems with the heart's structure that are present at birth.
has db xref: url:https://www.nhlbi.nih.gov/health/congenital-heart-defects

glaucoma
type: Class
subclass of: eye disease
IAO_0000115: 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.
has db xref: ICD10CM:H40
has db xref: ICD9CM:365
has db xref: MESH:D005901
has db xref: NCI:C26782
has db xref: SNOMEDCT_US_2023_03_01:155120009
has db xref: UMLS_CUI:C0017601
has OBO namespace: disease_ontology
id: DOID:1686
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: glaucoma
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Glaucoma
has db xref: url:https://www.aao.org/eye-health/diseases/what-is-glaucoma

epilepsy
type: Class
IAO_0000115: 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.
has db xref: EFO:0000474
has db xref: ICD10CM:G40
has db xref: ICD9CM:345.9
has db xref: MESH:D004827
has db xref: NCI:C3020
has db xref: SNOMEDCT_US_2023_03_01:267698007
has db xref: UMLS_CUI:C0014544
has exact synonym: epilepsy syndrome
has exact synonym: epileptic syndrome
has OBO namespace: disease_ontology
id: DOID:1826
in subset: DO FlyBase slim
in subset: NCIthesaurus
narrow match: ICD10CM:G40.9
narrow match: ICD10CM:G40.909

Axiom
annotated source: epilepsy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007643
has db xref: url:http://www.merriam-webster.com/medlineplus/epilepsy
has db xref: url:https://www.ilae.org/guidelines/definition-and-classification/ilae-classification-of-the-epilepsies-2017

Menkes disease
type: Class
has db xref: GARD:1521
has db xref: MESH:D007706
has db xref: MIM:309400
has db xref: NCI:C75486
has db xref: SNOMEDCT_US_2023_03_01:59178007
has db xref: UMLS_CUI:C0022716
has exact synonym: COPPER TRANSPORT DISEASE
has exact synonym: Menkes kinky-hair syndrome
has exact synonym: steely hair syndrome
has OBO namespace: disease_ontology
id: DOID:1838
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

intrahepatic cholestasis
type: Class
IAO_0000115: A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
has db xref: GARD:10214
has db xref: MESH:D002780
has db xref: NCI:C84400
has db xref: ORDO:284385
has db xref: SNOMEDCT_US_2023_03_01:4637005
has db xref: UMLS_CUI:C0008372
has exact synonym: neonatal intrahepatic cholestasis
has OBO namespace: disease_ontology
id: DOID:1852
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: intrahepatic cholestasis
annotated property: IAO_0000115
annotated target: A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver.
has db xref: url:https://medlineplus.gov/ency/article/000215.htm

Gaucher's disease
type: Class
subclass of: lysosomal storage disease
IAO_0000115: 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.
has db xref: GARD:8233
has db xref: ICD10CM:E75.22
has db xref: MESH:D005776
has db xref: NCI:C61268
has db xref: ORDO:355
has db xref: SNOMEDCT_US_2023_03_01:190794006
has db xref: UMLS_CUI:C0017205
has exact synonym: Gaucher disease
has exact synonym: acid beta-glucosidase deficiency
has exact synonym: glocucerebrosidase deficiency
has exact synonym: glucosylceramide beta-glucosidase deficiency
has exact synonym: kerasin thesaurismosis
has OBO namespace: disease_ontology
id: DOID:1926
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Gaucher's disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gaucher%27s_disease
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract

Williams-Beuren syndrome
type: Class
IAO_0000115: 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.
has db xref: ICD10CM:Q93.82
has db xref: MESH:D018980
has db xref: MIM:194050
has db xref: NCI:C85232
has db xref: SNOMEDCT_US_2023_03_01:63247009
has db xref: UMLS_CUI:C0175702
has exact synonym: Fanconi Schlesinger syndrome
has exact synonym: WBS
has OBO namespace: disease_ontology
id: DOID:1928
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Williams-Beuren syndrome
annotated property: IAO_0000115
annotated target: 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.
has db xref: url:https://ghr.nlm.nih.gov/condition/williams-syndrome
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/williams-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1249/

Axiom
annotated source: Williams-Beuren syndrome
annotated property: hasExactSynonym
annotated target: WBS
has synonym type: OMO_0003012

Angelman syndrome
type: Class
IAO_0000115: A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
has db xref: GARD:5810
has db xref: ICD10CM:Q93.51
has db xref: MESH:D017204
has db xref: MIM:105830
has db xref: NCI:C75462
has db xref: SNOMEDCT_US_2023_03_01:76880004
has db xref: UMLS_CUI:C0162635
has exact synonym: happy puppet syndrome
has exact synonym: puppetlike syndrome
has OBO namespace: disease_ontology
id: DOID:1932
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Angelman syndrome
annotated property: IAO_0000115
annotated target: A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance.
type: ECO_0007637
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Angelman_syndrome
has db xref: url:https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome

cerebral palsy
type: Class
IAO_0000115: 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.
has alternative id: DOID:1968
has db xref: ICD10CM:G80
has db xref: MESH:D002547
has db xref: NCI:C34460
has db xref: SNOMEDCT_US_2023_03_01:155024003
has db xref: UMLS_CUI:C0007789
has exact synonym: infantile cerebral palsy
has OBO namespace: disease_ontology
id: DOID:1969
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: cerebral palsy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cerebral_palsy
has db xref: url:http://www.brainandspinalcord.org/cerebral-palsy/index.html
has db xref: url:http://www.cerebralpalsy.org/what-is-cerebral-palsy/

atypical teratoid rhabdoid tumor
type: Class
subclass of: brain cancer
IAO_0000115: A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
has db xref: ICDO:9508/3
has db xref: NCI:C6906
has db xref: ORDO:99966
has db xref: SNOMEDCT_US_2023_03_01:128792003
has db xref: UMLS_CUI:C1266184
has exact synonym: AT/RT
has exact synonym: ATRT
has exact synonym: Atypical teratoid/rhabdoid tumor
has exact synonym: Atypical teratoid/rhabdoid tumour
has exact synonym: Rhabdoid tumor of the CNS
has exact synonym: Rhabdoid tumour of the CNS
has exact synonym: atypical teratoid rhabdoid tumour
has OBO namespace: disease_ontology
id: DOID:2129
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
related match: MIM:609322

Axiom
annotated source: atypical teratoid rhabdoid tumor
annotated property: IAO_0000115
annotated target: A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor

Axiom
annotated source: atypical teratoid rhabdoid tumor
annotated property: hasExactSynonym
annotated target: AT/RT
has synonym type: OMO_0003012

Axiom
annotated source: atypical teratoid rhabdoid tumor
annotated property: hasExactSynonym
annotated target: ATRT
has synonym type: OMO_0003012

motor neuron disease
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A neurodegenerative disease that is located_in the motor neurons.
has db xref: ICD10CM:G12.2
has db xref: ICD9CM:335.2
has db xref: MESH:D016472
has db xref: SNOMEDCT_US_2023_03_01:37340000
has db xref: UMLS_CUI:C0085084
has OBO namespace: disease_ontology
id: DOID:231
in subset: DO FlyBase slim

Axiom
annotated source: motor neuron disease
annotated property: IAO_0000115
annotated target: A neurodegenerative disease that is located_in the motor neurons.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Motor_neuron_disease

ovarian cancer
type: Class
subclass of: cancer
IAO_0000115: A female reproductive organ cancer that is located_in the ovary.
has alternative id: DOID:0060070
has alternative id: DOID:2144
has alternative id: DOID:9595
has db xref: GARD:7295
has db xref: ICD10CM:C56
has db xref: ICD9CM:183.0
has db xref: MESH:D010051
has db xref: MIM:167000
has db xref: MIM:607893
has db xref: NCI:C4984
has db xref: NCI:C7431
has db xref: ORDO:213500
has db xref: ORDO:213517
has db xref: SNOMEDCT_US_2023_03_01:123843001
has db xref: SNOMEDCT_US_2023_03_01:372117006
has db xref: SNOMEDCT_US_2023_03_01:93934004
has db xref: UMLS_CUI:C0919267
has db xref: UMLS_CUI:C1140680
has db xref: UMLS_CUI:C1299247
has exact synonym: malignant Ovarian tumor
has exact synonym: malignant tumour of ovary
has exact synonym: ovarian neoplasm
has exact synonym: ovary neoplasm
has exact synonym: primary ovarian cancer
has exact synonym: tumor of the Ovary
has OBO namespace: disease_ontology
id: DOID:2394
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: ovarian cancer
annotated property: IAO_0000115
annotated target: A female reproductive organ cancer that is located_in the ovary.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=445074

hereditary spastic paraplegia
type: Class
IAO_0000115: A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
has db xref: GARD:6637
has db xref: ICD10CM:G11.4
has db xref: ICD9CM:334.1
has db xref: MESH:D015419
has db xref: MIM:PS303350
has db xref: NCI:C140267
has db xref: SNOMEDCT_US_2023_03_01:267692008
has db xref: UMLS_CUI:C0037773
has exact synonym: French settlement disease
has exact synonym: Strumpell-Lorrain disease
has exact synonym: familial spastic paraplegia
has exact synonym: hereditary spastic paraparesis
has OBO namespace: disease_ontology
id: DOID:2476
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: hereditary spastic paraplegia
annotated property: IAO_0000115
annotated target: A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Familial_spastic_paraplegia

hematologic cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
has alternative id: DOID:1034
has alternative id: DOID:2532
has db xref: MESH:D019337
has db xref: NCI:C27134
has db xref: SNOMEDCT_US_2023_03_01:414388001
has db xref: UMLS_CUI:C0376544
has exact synonym: Hematologic malignancy
has exact synonym: Hematologic neoplasm
has exact synonym: Hematological tumors
has exact synonym: blood cancer
has exact synonym: hematopoietic and lymphoid system tumor
has exact synonym: hematopoietic cancer
has exact synonym: hematopoietic neoplasm
has exact synonym: hematopoietic tumors
has exact synonym: malignant hematopoietic neoplasm
has OBO namespace: disease_ontology
id: DOID:2531
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: hematologic cancer
annotated property: IAO_0000115
annotated target: An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://en.wikipedia.org/wiki/Blood_cancer
has db xref: url:http://www.cancer.gov/dictionary/?CdrID=45708

Bloom syndrome
type: Class
IAO_0000115: A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
has db xref: MESH:D001816
has db xref: MIM:210900
has db xref: NCI:C2903
has db xref: ORDO:125
has db xref: SNOMEDCT_US_2023_03_01:4434006
has db xref: UMLS_CUI:C0005859
has exact synonym: Bloom-Torre-Machacek syndrome
has exact synonym: Congenital Telangiectatic Erythema syndrome
has OBO namespace: disease_ontology
id: DOID:2717
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Bloom syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/bloom-syndrome
has db xref: url:https://en.wikipedia.org/wiki/Bloom_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/10823897
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9482582

auditory system disease
type: Class
subclass of: sensory system disease
IAO_0000115: A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
has alternative id: DOID:1490
has alternative id: DOID:2011
has db xref: ICD10CM:H93.9
has db xref: ICD9CM:388.9
has db xref: MESH:D004427
has db xref: NCI:C26757
has db xref: SNOMEDCT_US_2023_03_01:194193002
has db xref: UMLS_CUI:C0013447
has exact synonym: ear and mastoid disease
has OBO namespace: disease_ontology
id: DOID:2742
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: auditory system disease
annotated property: IAO_0000115
annotated target: A sensory system disease that is characterized by auditory dysfunction located_in the auditory system.
type: ECO_0007646

long QT syndrome
type: Class
subclass of: cardiomyopathy
IAO_0000115: 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).
has alternative id: DOID:4069
has db xref: GARD:6922
has db xref: ICD10CM:I45.81
has db xref: ICD9CM:426.82
has db xref: MESH:D008133
has db xref: MIM:PS192500
has db xref: NCI:C34786
has db xref: ORDO:768
has db xref: SNOMEDCT_US_2023_03_01:9651007
has db xref: UMLS_CUI:C0023976
has exact synonym: LQT
has exact synonym: long Q-T syndrome
has narrow synonym: Romano-Ward syndrome
has OBO namespace: disease_ontology
id: DOID:2843
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].
narrow match: ORDO:101016

Axiom
annotated source: long QT syndrome
annotated property: IAO_0000115
annotated target: 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).
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Long_QT_syndrome

Axiom
annotated source: long QT syndrome
annotated property: hasExactSynonym
annotated target: LQT
has synonym type: OMO_0003012

immune system disease
type: Class
IAO_0000115: A disease of anatomical entity that is located_in the immune system.
has db xref: EFO:0000540
has db xref: ICD10CM:D89.9
has db xref: ICD9CM:279.9
has db xref: SNOMEDCT_US_2023_03_01:154782004
has db xref: UMLS_CUI:C0041806
has OBO namespace: disease_ontology
id: DOID:2914
in subset: DO AGR slim
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO GXD slim
in subset: DO MGI slim

Axiom
annotated source: immune system disease
annotated property: IAO_0000115
annotated target: A disease of anatomical entity that is located_in the immune system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Immune_system

Chediak-Higashi syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:6035
has db xref: ICD10CM:E70.330
has db xref: MESH:D002609
has db xref: MIM:214500
has db xref: NCI:C2941
has db xref: ORDO:167
has db xref: SNOMEDCT_US_2023_03_01:111396008
has db xref: UMLS_CUI:C0007965
has exact synonym: CHS
has exact synonym: Chediak - Steinbrinck anomaly
has OBO namespace: disease_ontology
id: DOID:2935
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Chediak-Higashi syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007645
has db xref: url:http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/25129365

Axiom
annotated source: Chediak-Higashi syndrome
annotated property: hasExactSynonym
annotated target: CHS
has synonym type: OMO_0003012

photosensitive trichothiodystrophy
type: Class
IAO_0000115: A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
has db xref: MESH:D054463
has db xref: NCI:C4924
has db xref: SNOMEDCT_US_2021_09_01:723551003
has exact synonym: IBIDS syndrome
has exact synonym: TTD-P
has exact synonym: Tay syndrome
has exact synonym: sulfur-deficient brittle hair syndrome
has exact synonym: trichothiodystrophy with congenital ichthyosis
has OBO namespace: disease_ontology
id: DOID:2960
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: photosensitive trichothiodystrophy
annotated property: IAO_0000115
annotated target: A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight.
type: ECO_0007636
type: ECO_0007645
has db xref: url:https://ghr.nlm.nih.gov/condition/trichothiodystrophy
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/18603627/

Axiom
annotated source: photosensitive trichothiodystrophy
annotated property: hasExactSynonym
annotated target: TTD-P
has synonym type: OMO_0003012

Cockayne syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:6122
has db xref: ICD10CM:Q87.19
has db xref: MESH:D003057
has db xref: NCI:C9460
has db xref: ORDO:191
has db xref: SNOMEDCT_US_2023_03_01:205832003
has db xref: UMLS_CUI:C0009207
has exact synonym: Neill-Dingwall syndrome
has OBO namespace: disease_ontology
has related synonym: Cockayne's syndrome
id: DOID:2962
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Cockayne syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Cockayne_syndrome
has db xref: url:https://medlineplus.gov/genetics/condition/cockayne-syndrome/
has db xref: url:https://www.ncbi.nlm.nih.gov/books/NBK1342/

carbohydrate metabolic disorder
type: Class
IAO_0000115: An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
has alternative id: DOID:9434
has db xref: MESH:D002239
has db xref: NCI:C97089
has db xref: ORDO:79161
has db xref: UMLS_CUI:C0007001
has db xref: UMLS_CUI:C0149670
has exact synonym: disorder of carbohydrate transport and metabolism
has exact synonym: inborn carbohydrate metabolism disorder
has exact synonym: inborn errors of carbohydrate metabolism
has OBO namespace: disease_ontology
id: DOID:2978
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: carbohydrate metabolic disorder
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism

carcinoma
type: Class
subclass of: cancer
IAO_0000115: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
has alternative id: DOID:2428
has alternative id: DOID:6570
has db xref: ICDO:8010/3
has db xref: MESH:D002277
has db xref: MESH:D009375
has db xref: NCI:C2916
has db xref: NCI:C3709
has db xref: SNOMEDCT_US_2023_03_01:188083002
has db xref: SNOMEDCT_US_2023_03_01:269513004
has db xref: SNOMEDCT_US_2023_03_01:71298006
has db xref: UMLS_CUI:C0007097
has db xref: UMLS_CUI:C0553707
has db xref: UMLS_CUI:C1368683
has exact synonym: epithelial cancer
has exact synonym: epithelioma
has exact synonym: malignant Epithelioma
has OBO namespace: disease_ontology
id: DOID:305
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: NCIthesaurus

Axiom
annotated source: carcinoma
annotated property: IAO_0000115
annotated target: A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Carcinoma

gastrointestinal system cancer
type: Class
subclass of: cancer
IAO_0000115: An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
has alternative id: DOID:4945
has alternative id: DOID:8377
has db xref: ICD10CM:C26.9
has db xref: ICD9CM:239.0
has db xref: MESH:D004067
has db xref: MESH:D005770
has db xref: NCI:C3052
has db xref: NCI:C4890
has db xref: SNOMEDCT_US_2023_03_01:128348002
has db xref: SNOMEDCT_US_2023_03_01:276806006
has db xref: SNOMEDCT_US_2023_03_01:428905002
has db xref: UMLS_CUI:C0012243
has db xref: UMLS_CUI:C0017185
has db xref: UMLS_CUI:C0685938
has exact synonym: GI tumor
has exact synonym: digestive system cancer
has exact synonym: gastrointestinal tract cancer
has OBO namespace: disease_ontology
id: DOID:3119
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: NCIthesaurus
in subset: TopNodes DOcancerslim

Axiom
annotated source: gastrointestinal system cancer
annotated property: IAO_0000115
annotated target: An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Human_gastrointestinal_tract

lipid metabolism disorder
type: Class
IAO_0000115: An inherited metabolic disorder that involves the creation and degradation of lipids.
has db xref: MESH:D008052
has db xref: UMLS_CUI:C0023772
has exact synonym: dyslipidemia
has exact synonym: fatty acid metabolism disorder
has OBO namespace: disease_ontology
id: DOID:3146
in subset: DO FlyBase slim

Axiom
annotated source: lipid metabolism disorder
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that involves the creation and degradation of lipids.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lipid_metabolism

nemaline myopathy
type: Class
subclass of: myopathy
IAO_0000115: 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.
has db xref: GARD:12033
has db xref: ICD10CM:G71.21
has db xref: MESH:D017696
has db xref: MIM:PS161800
has db xref: ORDO:607
has db xref: SNOMEDCT_US_2023_03_01:75072002
has db xref: UMLS_CUI:C0206157
has exact synonym: Nemaline body disease
has exact synonym: nemaline rod myopathy
has exact synonym: rod body disease
has exact synonym: rod myopathy
has OBO namespace: disease_ontology
id: DOID:3191
in subset: DO FlyBase slim
in subset: DO rare slim
comment: Xref MGI.

Axiom
annotated source: nemaline myopathy
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Nemaline_myopathy
has db xref: url:http://ghr.nlm.nih.gov/condition/nemaline-myopathy
has db xref: url:https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract

lysosomal storage disease
type: Class
IAO_0000115: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
has db xref: MESH:D016464
has db xref: NCI:C61250
has db xref: SNOMEDCT_US_2023_03_01:23585005
has db xref: UMLS_CUI:C0085078
has exact synonym: disorder of lysosomal enzyme
has exact synonym: inborn lysosomal enzyme disorder
has exact synonym: lysosomal storage metabolism disorder
has OBO namespace: disease_ontology
id: DOID:3211
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: lysosomal storage disease
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Lysosomal_storage_disease

amyotrophic lateral sclerosis
type: Class
subclass of: motor neuron disease
IAO_0000115: A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
has db xref: GARD:5786
has db xref: ICD10CM:G12.21
has db xref: ICD9CM:335.20
has db xref: KEGG:05014
has db xref: MESH:D000690
has db xref: MIM:PS105400
has db xref: NCI:C34373
has db xref: ORDO:803
has db xref: SNOMEDCT_US_2023_03_01:86044005
has db xref: UMLS_CUI:C0002736
has exact synonym: ALS
has exact synonym: Lou Gehrig's disease
has exact synonym: motor neuron disease, bulbar
has OBO namespace: disease_ontology
id: DOID:332
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: amyotrophic lateral sclerosis
annotated property: IAO_0000115
annotated target: A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis
has db xref: url:http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm

Axiom
annotated source: amyotrophic lateral sclerosis
annotated property: hasExactSynonym
annotated target: ALS
has synonym type: OMO_0003012

glycoproteinosis
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
has db xref: GARD:10670
has db xref: MESH:D009081
has db xref: MIM:256550
has db xref: NCI:C61267
has db xref: SNOMEDCT_US_2023_03_01:70528007
has db xref: UMLS_CUI:C0026697
has exact synonym: Mucolipidosis type I
has exact synonym: sialidosis
has OBO namespace: disease_ontology
id: DOID:3343
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping submitted by NeuroDevNet. [LS].

Axiom
annotated source: glycoproteinosis
annotated property: IAO_0000115
annotated target: A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase).
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sialidosis
has db xref: url:https://en.wikipedia.org/wiki/Glycoproteinosis
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract

inclusion body myositis
type: Class
subclass of: myopathy
IAO_0000115: A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
has db xref: GARD:3896
has db xref: ICD10CM:G72.41
has db xref: ICD9CM:359.71
has db xref: MESH:D018979
has db xref: MIM:147421
has db xref: NCI:C84786
has db xref: ORDO:611
has db xref: SNOMEDCT_US_2023_03_01:72315009
has db xref: UMLS_CUI:C0238190
has OBO namespace: disease_ontology
id: DOID:3429
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: inclusion body myositis
annotated property: IAO_0000115
annotated target: A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Inclusion_body_myositis
has db xref: url:https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy

Noonan syndrome
type: Class
IAO_0000115: A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
has db xref: GARD:10955
has db xref: ICD10CM:Q87.19
has db xref: MESH:D009634
has db xref: MIM:PS163950
has db xref: NCI:C34854
has db xref: ORDO:648
has db xref: SNOMEDCT_US_2023_03_01:88327006
has db xref: UMLS_CUI:C0028326
has exact synonym: Turner's phenotype, karyotype normal
has OBO namespace: disease_ontology
id: DOID:3490
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Noonan syndrome
annotated property: IAO_0000115
annotated target: A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition
has db xref: url:https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome
has db xref: url:https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome
has db xref: url:https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome

Lafora disease
type: Class
subclass of: epilepsy
IAO_0000115: 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.
has db xref: GARD:8214
has db xref: MESH:D020192
has db xref: MIM:PS254780
has db xref: NCI:C84804
has db xref: SNOMEDCT_US_2023_03_01:230425004
has db xref: UMLS_CUI:C0751783
has exact synonym: Lafora Progressive Myoclonic Epilepsy
has exact synonym: Lafora's disease
has exact synonym: MYOCLONIC EPILEPSY OF LAFORA
has exact synonym: progressive myoclonic epilepsy 2
has OBO namespace: disease_ontology
id: DOID:3534
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Lafora disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007645
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19267391
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/19469843

Leigh disease
type: Class
subclass of: cytochrome-c oxidase deficiency disease
IAO_0000115: 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.
has db xref: GARD:6877
has db xref: ICD10CM:G31.82
has db xref: MESH:D007888
has db xref: MIM:256000
has db xref: NCI:C84814
has db xref: ORDO:506
has db xref: SNOMEDCT_US_2023_03_01:29570005
has db xref: UMLS_CUI:C0023264
has exact synonym: Infantile necrotizing encephalomyelopathy
has exact synonym: Leigh syndrome
has exact synonym: juvenile subacute necrotizing encephalomyelopathy
has OBO namespace: disease_ontology
has related synonym: subacute necrotizing encephalomyelopathy
id: DOID:3652
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Leigh disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Leigh%27s_disease
has db xref: url:http://ghr.nlm.nih.gov/condition/leigh-syndrome
has db xref: url:https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/
has db xref: url:https://rarediseases.org/rare-diseases/leigh-syndrome/

Hermansky-Pudlak syndrome
type: Class
IAO_0000115: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
has db xref: GARD:6643
has db xref: ICD10CM:E70.331
has db xref: MESH:D022861
has db xref: MIM:PS203300
has db xref: NCI:C37261
has db xref: ORDO:231531
has db xref: ORDO:231537
has db xref: ORDO:280663
has db xref: ORDO:79430
has db xref: SNOMEDCT_US_2023_03_01:60255003
has db xref: UMLS_CUI:C0079504
has OBO namespace: disease_ontology
id: DOID:3753
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Hermansky-Pudlak syndrome
annotated property: IAO_0000115
annotated target: A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome
has db xref: url:http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract

cytochrome-c oxidase deficiency disease
type: Class
subclass of: mitochondrial metabolism disease
IAO_0000115: 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.
has db xref: GARD:48
has db xref: MESH:D030401
has db xref: MIM:PS220110
has db xref: NCI:C98910
has db xref: SNOMEDCT_US_2023_03_01:237991006
has db xref: UMLS_CUI:C0268237
has exact synonym: MITOCHONDRIAL COMPLEX IV DEFICIENCY
has OBO namespace: disease_ontology
id: DOID:3762
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: cytochrome-c oxidase deficiency disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders
has db xref: url:https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/26846578

Coffin-Lowry syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:6123
has db xref: MESH:D038921
has db xref: MIM:303600
has db xref: NCI:C84643
has db xref: SNOMEDCT_US_2023_03_01:15182000
has db xref: UMLS_CUI:C0265252
has OBO namespace: disease_ontology
id: DOID:3783
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Coffin-Lowry syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance

progeria
type: Class
IAO_0000115: 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.
has db xref: GARD:7467
has db xref: ICD10CM:E34.8
has db xref: MEDDRA:10036794
has db xref: MESH:D011371
has db xref: MIM:176670
has db xref: NCI:C34951
has db xref: ORDO:740
has db xref: SNOMEDCT_US_2023_03_01:190590004
has db xref: UMLS_CUI:C0033300
has exact synonym: HGPS
has exact synonym: Hutchinson Gilford syndrome
has exact synonym: Hutchinson-Gilford Progeria syndrome
has exact synonym: Hutchinson-Gilford disease
has OBO namespace: disease_ontology
id: DOID:3911
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: progeria
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007645
has db xref: url:https://www.genome.gov/Genetic-Disorders/Progeria
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/12714972
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/16838330

Axiom
annotated source: progeria
annotated property: hasExactSynonym
annotated target: HGPS
has synonym type: OMO_0003012

pantothenate kinase-associated neurodegeneration
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
has db xref: GARD:6564
has db xref: ICD10CM:G23.0
has db xref: MESH:D006211
has db xref: MIM:234200
has db xref: NCI:C8967
has db xref: ORDO:157850
has db xref: SNOMEDCT_US_2023_03_01:2992000
has db xref: UMLS_CUI:C0018523
has exact synonym: Hallervorden-Spatz disease
has exact synonym: Hallervorden-Spatz syndrome
has exact synonym: NBIA1
has exact synonym: Pigmentary pallidal degeneration
has exact synonym: brain Iron Accumulation type I syndrome
has exact synonym: neurodegeneration with brain iron accumulation 1
has OBO namespace: disease_ontology
id: DOID:3981
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: pantothenate kinase-associated neurodegeneration
annotated property: IAO_0000115
annotated target: A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration

Axiom
annotated source: pantothenate kinase-associated neurodegeneration
annotated property: hasExactSynonym
annotated target: NBIA1
has synonym type: OMO_0003012

alveolar rhabdomyosarcoma
type: Class
subclass of: cancer
has alternative id: DOID:4382
has db xref: GARD:4701
has db xref: ICDO:8920/3
has db xref: MESH:D018232
has db xref: MIM:268220
has db xref: NCI:C3749
has db xref: NCI:C7958
has db xref: SNOMEDCT_US_2023_03_01:404053004
has db xref: UMLS_CUI:C0206655
has db xref: UMLS_CUI:C0279613
has exact synonym: alveolar childhood rhabdomyosarcoma
has OBO namespace: disease_ontology
id: DOID:4051
in subset: DO FlyBase slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

congenital structural myopathy
type: Class
subclass of: myopathy
IAO_0000115: A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
has db xref: MESH:D020914
has db xref: NCI:C84648
has db xref: UMLS_CUI:C0752282
has OBO namespace: disease_ontology
id: DOID:422
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: congenital structural myopathy
annotated property: IAO_0000115
annotated target: A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills.
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/23897157/

myopathy
type: Class
IAO_0000115: A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
has db xref: ICD10CM:G72.9
has db xref: ICD9CM:359.9
has db xref: MESH:D009135
has db xref: NCI:C101216
has db xref: SNOMEDCT_US_2023_03_01:155094005
has db xref: UMLS_CUI:C0026848
has OBO namespace: disease_ontology
id: DOID:423
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: myopathy
annotated property: IAO_0000115
annotated target: A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Myopathy

Gerstmann-Straussler-Scheinker syndrome
type: Class
subclass of: prion disease
IAO_0000115: A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
has db xref: GARD:7690
has db xref: ICD10CM:A81.82
has db xref: ICD9CM:046.71
has db xref: MESH:D016098
has db xref: MIM:137440
has db xref: NCI:C84727
has db xref: SNOMEDCT_US_2023_03_01:67155006
has db xref: UMLS_CUI:C0017495
has exact synonym: Gerstmann-Straussler-Scheinker disease
has exact synonym: PRION DEMENTIA
has OBO namespace: disease_ontology
id: DOID:4249
in subset: DO FlyBase slim
in subset: DO infectious disease slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Gerstmann-Straussler-Scheinker syndrome
annotated property: IAO_0000115
annotated target: A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome
has db xref: url:http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease
has db xref: url:http://www.cdc.gov/ncidod/dvrd/prions/

Alexander disease
type: Class
IAO_0000115: 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.
has db xref: GARD:5774
has db xref: MESH:D038261
has db xref: MIM:203450
has db xref: NCI:C84545
has db xref: SNOMEDCT_US_2023_03_01:81854007
has db xref: UMLS_CUI:C0270726
has exact synonym: Alexander's disease
has OBO namespace: disease_ontology
id: DOID:4252
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Alexander disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Alexander_disease
has db xref: url:http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm
has db xref: url:http://www.omim.org/entry/203450
has db xref: url:http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract

macular degeneration
type: Class
subclass of: retinal degeneration
IAO_0000115: 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.
has db xref: MESH:D008268
has db xref: NCI:C123330
has db xref: ORDO:279
has db xref: SNOMEDCT_US_2023_03_01:302891003
has db xref: UMLS_CUI:C0024437
has exact synonym: Macular degeneration of retina
has OBO namespace: disease_ontology
id: DOID:4448
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: macular degeneration
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration

pseudohypoaldosteronism
type: Class
subclass of: kidney disease
has db xref: MESH:D011546
has db xref: NCI:C85034
has db xref: SNOMEDCT_US_2023_03_01:77098009
has db xref: UMLS_CUI:C0033805
has OBO namespace: disease_ontology
id: DOID:4479
in subset: DO FlyBase slim
in subset: NCIthesaurus

myotonic disease
type: Class
subclass of: muscular dystrophy
IAO_0000115: A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
has db xref: ICD10CM:G71.1
has db xref: ICD9CM:359.2
has db xref: MESH:D020967
has db xref: NCI:C84913
has db xref: SNOMEDCT_US_2023_03_01:155096007
has db xref: UMLS_CUI:C0553604
has OBO namespace: disease_ontology
id: DOID:450
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: myotonic disease
annotated property: IAO_0000115
annotated target: A muscular dystrophy that is characterized by progressive muscle wasting and weakness.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Myotonic_dystrophy
has db xref: url:http://ghr.nlm.nih.gov/condition/myotonic-dystrophy
has db xref: url:http://www.genome.gov/25521207

ideomotor apraxia
type: Class
has db xref: MESH:D020240
has db xref: SNOMEDCT_US_2023_03_01:39746003
has db xref: UMLS_CUI:C0234523
has exact synonym: Classic apraxia
has exact synonym: Ideomotor dyspraxia
has exact synonym: Limb-kinetic apraxia
has exact synonym: Transcortical apraxia
has OBO namespace: disease_ontology
id: DOID:4627
in subset: DO FlyBase slim

sleep disorder
type: Class
IAO_0000115: A disease of mental health that involves disruption of sleep patterns.
has alternative id: DOID:9028
has db xref: ICD9CM:307.4
has db xref: UMLS_CUI:C0154564
has exact synonym: Non-organic sleep disorder
has OBO namespace: disease_ontology
id: DOID:535
in subset: DO FlyBase slim
in subset: DO RAD slim

Axiom
annotated source: sleep disorder
annotated property: IAO_0000115
annotated target: A disease of mental health that involves disruption of sleep patterns.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Sleep_disorder

schizophrenia
type: Class
IAO_0000115: A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
has alternative id: DOID:14734
has db xref: ICD10CM:F20
has db xref: ICD9CM:295
has db xref: MESH:D012559
has db xref: MIM:181500
has db xref: NCI:C3362
has db xref: SNOMEDCT_US_2023_03_01:58214004
has db xref: UMLS_CUI:C0036341
has exact synonym: schizophrenia-1
has OBO namespace: disease_ontology
id: DOID:5419
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: schizophrenia
annotated property: IAO_0000115
annotated target: A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Schizophrenia

dystonia
type: Class
IAO_0000115: A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.
has alternative id: DOID:544
has db xref: ICD10CM:G24
has db xref: MESH:D004421
has db xref: MESH:D020821
has db xref: MIM:PS128100
has db xref: NCI:C34563
has db xref: SNOMEDCT_US_2023_03_01:15802004
has db xref: SNOMEDCT_US_2023_03_01:250068003
has db xref: UMLS_CUI:C0013421
has db xref: UMLS_CUI:C0393593
has exact synonym: dystonic disease
has OBO namespace: disease_ontology
id: DOID:543
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: dystonia
annotated property: IAO_0000115
annotated target: A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements.
has db xref: url:https://rarediseases.org/rare-diseases/dystonia/
has db xref: url:https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480

kidney disease
type: Class
IAO_0000115: A urinary system disease that is located_in the kidney.
has alternative id: DOID:11705
has db xref: EFO:0003086
has db xref: ICD10CM:N08
has db xref: MESH:D007674
has db xref: NCI:C3149
has db xref: SNOMEDCT_US_2023_03_01:266612003
has db xref: UMLS_CUI:C0022658
has exact synonym: impaired renal function disease
has exact synonym: nephropathy
has OBO namespace: disease_ontology
id: DOID:557
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: kidney disease
annotated property: IAO_0000115
annotated target: A urinary system disease that is located_in the kidney.
type: ECO_0007644
has db xref: url:http://www.nlm.nih.gov/medlineplus/kidneydiseases.html

eye disease
type: Class
subclass of: sensory system disease
IAO_0000115: An eye and adnexa disease that is located_in the eye.
has alternative id: DOID:2933
has db xref: ICD10CM:H44
has db xref: ICD9CM:379.90
has db xref: MESH:D005128
has db xref: NCI:C26767
has db xref: SNOMEDCT_US_2023_03_01:371409005
has db xref: UMLS_CUI:C0015397
has OBO namespace: disease_ontology
id: DOID:5614
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: NCIthesaurus

Axiom
annotated source: eye disease
annotated property: IAO_0000115
annotated target: An eye and adnexa disease that is located_in the eye.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Eye_disease

Werner syndrome
type: Class
IAO_0000115: 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.
has db xref: GARD:7885
has db xref: MESH:D014898
has db xref: MIM:277700
has db xref: NCI:C3447
has db xref: ORDO:902
has db xref: SNOMEDCT_US_2023_03_01:51626007
has db xref: UMLS_CUI:C0043119
has exact synonym: WS
has exact synonym: Werner's syndrome
has exact synonym: adult premature ageing syndrome
has exact synonym: adult progeria
has OBO namespace: disease_ontology
id: DOID:5688
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS].

Axiom
annotated source: Werner syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
type: ECO_0007645
has db xref: url:https://en.wikipedia.org/wiki/Werner_syndrome
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/15946710
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/9288107

Axiom
annotated source: Werner syndrome
annotated property: hasExactSynonym
annotated target: WS
has synonym type: OMO_0003012

optic atrophy
type: Class
IAO_0000115: An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
has db xref: ICD10CM:H47.2
has db xref: ICD9CM:377.1
has db xref: MESH:D009896
has db xref: MIM:PS165500
has db xref: NCI:C34863
has db xref: ORDO:98673
has db xref: SNOMEDCT_US_2023_03_01:155188004
has db xref: UMLS_CUI:C0029124
has exact synonym: atrophy of optic disc
has OBO namespace: disease_ontology
id: DOID:5723
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: optic atrophy
annotated property: IAO_0000115
annotated target: An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve.
has db xref: url:https://eyewiki.aao.org/Optic_Atrophy

primary immunodeficiency disease
type: Class
subclass of: immune system disease
IAO_0000115: 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.
has db xref: ICD10CM:D84.9
has db xref: ICD9CM:279.3
has db xref: KEGG:05340
has db xref: MESH:D007153
has db xref: MIM:242850
has db xref: MIM:PS300755
has db xref: NCI:C39725
has db xref: SNOMEDCT_US_2023_03_01:191005003
has db xref: UMLS_CUI:C0021051
has exact synonym: hypoimmunity
has exact synonym: immune deficiency disorder
has exact synonym: immunodeficiency syndrome
has OBO namespace: disease_ontology
id: DOID:612
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: Xref MGI.

Axiom
annotated source: primary immunodeficiency disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
has db xref: url:http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases

prion disease
type: Class
IAO_0000115: 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.
has db xref: ICD10CM:A81.9
has db xref: KEGG:05020
has db xref: MESH:D017096
has db xref: NCI:C128346
has db xref: SNOMEDCT_US_2023_03_01:20484008
has db xref: UMLS_CUI:C0162534
has exact synonym: Prion disease pathway
has exact synonym: Prion protein disease
has exact synonym: Spongiform Encephalopathy
has exact synonym: prion induced disorder
has exact synonym: transmissible spongiform encephalopathy
has OBO namespace: disease_ontology
id: DOID:649
in subset: DO FlyBase slim
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: prion disease
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Prion
has db xref: url:http://www.cdc.gov/ncidod/dvrd/prions/

tauopathy
type: Class
subclass of: neurodegenerative disease
IAO_0000115: A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
has db xref: MESH:D024801
has db xref: UMLS_CUI:C0949664
has OBO namespace: disease_ontology
id: DOID:680
in subset: DO FlyBase slim

Axiom
annotated source: tauopathy
annotated property: IAO_0000115
annotated target: A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Tauopathy

mitochondrial myopathy
type: Class
subclass of: myopathy
IAO_0000115: A myopathy that is characterized by mitochondrial dysfunction.
has db xref: MESH:D017240
has db xref: MIM:251900
has db xref: NCI:C101328
has db xref: SNOMEDCT_US_2023_03_01:240096000
has db xref: UMLS_CUI:C0162670
has exact synonym: mitochondrial cytopathy
has OBO namespace: disease_ontology
id: DOID:699
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: mitochondrial myopathy
annotated property: IAO_0000115
annotated target: A myopathy that is characterized by mitochondrial dysfunction.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mitochondrial_myopathies
has db xref: url:http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm

mitochondrial metabolism disease
type: Class
IAO_0000115: An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
has db xref: GARD:7048
has db xref: MESH:D028361
has db xref: SNOMEDCT_US_2023_03_01:240096000
has db xref: UMLS_CUI:C0751651
has OBO namespace: disease_ontology
id: DOID:700
in subset: DO FlyBase slim
in subset: DO rare slim

Axiom
annotated source: mitochondrial metabolism disease
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Mitochondrial_disease

retinal degeneration
type: Class
subclass of: eye disease
IAO_0000115: A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
has db xref: MESH:D012162
has db xref: NCI:C34979
has db xref: SNOMEDCT_US_2023_03_01:95695004
has db xref: UMLS_CUI:C0035304
has exact synonym: degeneration of retina
has OBO namespace: disease_ontology
id: DOID:8466
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: retinal degeneration
annotated property: IAO_0000115
annotated target: A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation)

collagen disease
type: Class
IAO_0000115: A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.
has db xref: MESH:D003095
has db xref: NCI:C27204
has db xref: SNOMEDCT_US_2023_03_01:268048008
has db xref: UMLS_CUI:C0009326
has exact synonym: collagen disorder
has OBO namespace: disease_ontology
id: DOID:854
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: collagen disease
annotated property: IAO_0000115
annotated target: A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Connective_tissue_disease

infectious mononucleosis
type: Class
subclass of: viral infectious disease
IAO_0000115: A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
has db xref: ICD10CM:B27
has db xref: ICD9CM:075
has db xref: MESH:D007244
has db xref: NCI:C34726
has db xref: SNOMEDCT_US_2023_03_01:154359004
has db xref: UMLS_CUI:C0021345
has exact synonym: Filatov's disease
has exact synonym: Gammaherpesviral mononucleosis
has exact synonym: Monocytic angina
has exact synonym: Pfeiffer's disease
has exact synonym: glandular fever
has exact synonym: mononucleosis
has OBO namespace: disease_ontology
id: DOID:8568
in subset: DO FlyBase slim
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: infectious mononucleosis
annotated property: IAO_0000115
annotated target: A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.
type: ECO_0007637
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Infectious_mononucleosis
has db xref: url:https://www.cdc.gov/epstein-barr/about/mononucleosis.html

neurofibromatosis
type: Class
has alternative id: DOID:14750
has alternative id: DOID:8711
has alternative id: DOID:9137
has db xref: GARD:10420
has db xref: ICD10CM:Q85.0
has db xref: ICD9CM:237.7
has db xref: MESH:D017253
has db xref: NCI:C6727
has db xref: ORDO:634518
has db xref: SNOMEDCT_US_2023_03_01:19133005
has db xref: UMLS_CUI:C0162678
has db xref: UMLS_CUI:C0495632
has OBO namespace: disease_ontology
id: DOID:8712
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: 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).
broad match: ORDO:634518
narrow match: ICD10CM:Q85.00

mitochondrial encephalomyopathy
type: Class
subclass of: mitochondrial myopathy
has db xref: MESH:D017237
has db xref: SNOMEDCT_US_2023_03_01:447292006
has db xref: UMLS_CUI:C0162666
has OBO namespace: disease_ontology
id: DOID:890
in subset: DO FlyBase slim

learning disability
type: Class
IAO_0000115: 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.
has alternative id: DOID:2847
has db xref: ICD10CM:F81.9
has db xref: MESH:D007859
has db xref: NCI:C89334
has db xref: SNOMEDCT_US_2023_03_01:1855002
has db xref: SNOMEDCT_US_2023_03_01:192531005
has db xref: UMLS_CUI:C0023186
has db xref: UMLS_CUI:C0751265
has exact synonym: Academic skill disorder
has exact synonym: learning disorder
has OBO namespace: disease_ontology
id: DOID:8927
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: learning disability
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Learning_disability
has db xref: url:http://www.ldonline.org/ldbasics/whatisld

Zellweger syndrome
type: Class
subclass of: peroxisomal disease
IAO_0000115: 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.
has db xref: GARD:7917
has db xref: ICD10CM:E71.510
has db xref: MESH:D015211
has db xref: NCI:C85239
has db xref: ORDO:912
has db xref: SNOMEDCT_US_2023_03_01:88469006
has db xref: UMLS_CUI:C0043459
has exact synonym: cerebrohepatorenal syndrome
has exact synonym: congenital iron overload
has OBO namespace: disease_ontology
id: DOID:905
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: Zellweger syndrome
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Zellweger_Syndrome
has db xref: url:http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm
has db xref: url:http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912

peroxisomal disease
type: Class
IAO_0000115: An inherited metabolic disorder that involves peroxisome malfunction.
has db xref: ICD10CM:E71.5
has db xref: ICD9CM:277.86
has db xref: MESH:D018901
has db xref: NCI:C85005
has db xref: SNOMEDCT_US_2023_03_01:238059005
has db xref: UMLS_CUI:C0282528
has exact synonym: peroxisomal disorder
has OBO namespace: disease_ontology
id: DOID:906
in subset: DO FlyBase slim
in subset: NCIthesaurus

Axiom
annotated source: peroxisomal disease
annotated property: IAO_0000115
annotated target: An inherited metabolic disorder that involves peroxisome malfunction.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Peroxisomal_disorder

acute myeloid leukemia
type: Class
subclass of: hematologic cancer
IAO_0000115: 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.
has alternative id: DOID:9118
has alternative id: DOID:9171
has db xref: GARD:12757
has db xref: ICD10CM:C92.0
has db xref: ICD9CM:205.0
has db xref: ICDO:9861/3
has db xref: KEGG:05221
has db xref: MESH:D015470
has db xref: MIM:601626
has db xref: NCI:C3171
has db xref: SNOMEDCT_US_2023_03_01:17788007
has db xref: UMLS_CUI:C0023467
has exact synonym: AML - acute Myeloid Leukemia
has exact synonym: Leukemia, Myelocytic, acute
has exact synonym: acute myeloblastic leukaemia
has exact synonym: acute myeloblastic leukemia
has exact synonym: acute myelogenous leukaemia
has exact synonym: acute myelogenous leukemia
has exact synonym: acute myeloid leukaemia
has OBO namespace: disease_ontology
id: DOID:9119
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: acute myeloid leukemia
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007637
type: ECO_0007638
type: ECO_0007641
has db xref: url:http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia
has db xref: url:http://en.wikipedia.org/wiki/Acute_myeloid_leukemia
has db xref: url:http://www.cancer.gov/dictionary?cdrid=44363
has db xref: url:https://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html

amyloidosis
type: Class
IAO_0000115: A disease of metabolism 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.
has db xref: ICD10CM:E85
has db xref: ICD9CM:277.3
has db xref: MESH:D000686
has db xref: NCI:C2868
has db xref: SNOMEDCT_US_2023_03_01:154769007
has db xref: UMLS_CUI:C0002726
has exact synonym: amyloid disease
has OBO namespace: disease_ontology
id: DOID:9120
in subset: DO FlyBase slim
in subset: DO MGI slim
in subset: NCIthesaurus
comment: amyloidosis has both inherited and acquired subtypes [LS].

Axiom
annotated source: amyloidosis
annotated property: IAO_0000115
annotated target: A disease of metabolism 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.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Amyloidosis
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33100054/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/33787033/
has db xref: url:https://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true

frontotemporal dementia
type: Class
IAO_0000115: 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.
has db xref: GARD:8436
has db xref: MESH:D057180
has db xref: ORDO:282
has db xref: SNOMEDCT_US_2023_03_01:42369001
has db xref: UMLS_CUI:C0520716
has exact synonym: Wilhemsen-Lynch disease
has exact synonym: frontotemporal lobar degeneration
has exact synonym: multiple system tauopathy with presenile dementia
has exact synonym: pallidopontonigral degeneration
has OBO namespace: disease_ontology
id: DOID:9255
in subset: DO FlyBase slim
in subset: DO rare slim
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: frontotemporal dementia
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007636
type: ECO_0007637
type: ECO_0007638
type: ECO_0007645
has db xref: url:http://en.wikipedia.org/wiki/Frontotemporal_dementia
has db xref: url:http://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876
has db xref: url:https://www.ncbi.nlm.nih.gov/pubmed/21121521
has db xref: url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract

colorectal cancer
type: Class
subclass of: gastrointestinal system cancer
IAO_0000115: A large intestine cancer that is located_in the colon and/or located_in the rectum.
has db xref: ICD10CM:C18.9
has db xref: KEGG:05210
has db xref: MESH:D015179
has db xref: MIM:114500
has db xref: NCI:C2956
has db xref: NCI:C4978
has db xref: SNOMEDCT_US_2023_03_01:126837005
has db xref: SNOMEDCT_US_2023_03_01:93854002
has db xref: UMLS_CUI:C0009404
has db xref: UMLS_CUI:C0346629
has OBO namespace: disease_ontology
id: DOID:9256
in subset: DO CFDE slim
in subset: DO FlyBase slim
in subset: DO RAD slim
in subset: DO cancer slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: colorectal cancer
annotated property: IAO_0000115
annotated target: A large intestine cancer that is located_in the colon and/or located_in the rectum.
type: ECO_0007637
type: ECO_0007641
has db xref: url:http://www.cancer.gov/dictionary?CdrID=444983

viral infectious disease
type: Class
IAO_0000115: A disease by infectious agent that results in infection, has_material_basis_in Viruses.
has alternative id: DOID:1329
has db xref: ICD10CM:A94
has db xref: ICD10CM:B34.9
has db xref: ICD9CM:060-066.99
has db xref: MESH:D001102
has db xref: MESH:D014777
has db xref: NCI:C3439
has db xref: NCI:C34396
has db xref: SNOMEDCT_US_2023_03_01:34014006
has db xref: SNOMEDCT_US_2023_03_01:40610006
has db xref: UMLS_CUI:C0003723
has db xref: UMLS_CUI:C0042769
has exact synonym: Viral Infection
has exact synonym: Viral disease
has exact synonym: virus infection
has OBO namespace: disease_ontology
id: DOID:934
in subset: DO AGR slim
in subset: DO FlyBase slim
in subset: DO infectious disease slim
in subset: NCIthesaurus

Axiom
annotated source: viral infectious disease
annotated property: IAO_0000115
annotated target: A disease by infectious agent that results in infection, has_material_basis_in Viruses.
type: ECO_0007637
has db xref: url:http://www.merck.com/mmhe/sec17/ch198/ch198a.html

type 2 diabetes mellitus
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
has db xref: ICD10CM:E11
has db xref: KEGG:04930
has db xref: MESH:D003924
has db xref: MIM:125853
has db xref: MIM:601283
has db xref: MIM:601407
has db xref: MIM:603694
has db xref: MIM:608036
has db xref: NCI:C26747
has db xref: SNOMEDCT_US_2023_03_01:44054006
has db xref: UMLS_CUI:C0011860
has exact synonym: NIDDM
has exact synonym: insulin resistance
has exact synonym: non-insulin-dependent diabetes mellitus
has exact synonym: type 2 diabetes
has exact synonym: type II diabetes mellitus
has OBO namespace: disease_ontology
id: DOID:9352
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: type 2 diabetes mellitus
annotated property: IAO_0000115
annotated target: A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Diabetes
has db xref: url:http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2

Axiom
annotated source: type 2 diabetes mellitus
annotated property: hasExactSynonym
annotated target: NIDDM
has synonym type: OMO_0003012

steatotic liver disease
type: Class
subclass of: lysosomal storage disease
IAO_0000115: A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
has alternative id: DOID:9451
has db xref: ICD10CM:K70.0
has db xref: ICD9CM:571.0
has db xref: MESH:D005234
has db xref: MESH:D005235
has db xref: MIM:228100
has db xref: SNOMEDCT_US_2023_03_01:371330000
has db xref: SNOMEDCT_US_2023_03_01:50325005
has db xref: UMLS_CUI:C0015695
has db xref: UMLS_CUI:C0015696
has exact synonym: Fatty change of liver
has exact synonym: SLD
has exact synonym: Steatosis of liver
has exact synonym: alcoholic fatty liver
has exact synonym: fatty liver disease
has exact synonym: hepatic lipidosis
has exact synonym: hepatic steatosis
has narrow synonym: cryptogenic steatotic liver disease
has OBO namespace: disease_ontology
id: DOID:9452
in subset: DO FlyBase slim
comment: PRISM.

Axiom
annotated source: steatotic liver disease
annotated property: IAO_0000115
annotated target: A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.
type: ECO_0007645
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/27099587/
has db xref: url:https://pubmed.ncbi.nlm.nih.gov/37364816/

Axiom
annotated source: steatotic liver disease
annotated property: hasExactSynonym
annotated target: SLD
has synonym type: OMO_0003012

primary ciliary dyskinesia
type: Class
IAO_0000115: 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.
has alternative id: DOID:2925
has db xref: GARD:4484
has db xref: MESH:D002925
has db xref: MIM:PS244400
has db xref: NCI:C84638
has db xref: ORDO:244
has db xref: SNOMEDCT_US_2023_03_01:86204009
has db xref: UMLS_CUI:C0008780
has exact synonym: ciliary motility disorder
has exact synonym: immotile ciliary syndrome
has OBO namespace: disease_ontology
id: DOID:9562
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: Xref MGI. OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: primary ciliary dyskinesia
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia

galactosemia
type: Class
subclass of: carbohydrate metabolic disorder
IAO_0000115: A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
has db xref: GARD:2424
has db xref: ICD10CM:E74.21
has db xref: ICD9CM:271.1
has db xref: MESH:D005693
has db xref: NCI:C84723
has db xref: SNOMEDCT_US_2023_03_01:38177000
has db xref: UMLS_CUI:C0016952
has exact synonym: Galactosaemia
has exact synonym: Galactose intolerance
has OBO namespace: disease_ontology
id: DOID:9870
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus
comment: OMIM mapping by NeuroDevNet. [LS].

Axiom
annotated source: galactosemia
annotated property: IAO_0000115
annotated target: A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Galactosemia

muscular dystrophy
type: Class
subclass of: myopathy
IAO_0000115: A myopathy is characterized by progressive skeletal muscle weakness degeneration.
has db xref: GARD:7922
has db xref: ICD10CM:G71.0
has db xref: MESH:D009136
has db xref: MIM:158800
has db xref: MIM:159050
has db xref: MIM:309930
has db xref: MIM:309950
has db xref: MIM:310000
has db xref: MIM:310095
has db xref: MIM:600416
has db xref: NCI:C84910
has db xref: SNOMEDCT_US_2023_03_01:155095006
has db xref: UMLS_CUI:C0026850
has OBO namespace: disease_ontology
id: DOID:9884
in subset: DO FlyBase slim
in subset: DO rare slim
in subset: NCIthesaurus

Axiom
annotated source: muscular dystrophy
annotated property: IAO_0000115
annotated target: A myopathy is characterized by progressive skeletal muscle weakness degeneration.
type: ECO_0007638
has db xref: url:http://en.wikipedia.org/wiki/Muscular_dystrophy
has db xref: url:http://www.ninds.nih.gov/disorders/md/md.htm

obesity
type: Class
IAO_0000115: 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.
has db xref: EFO:0001073
has db xref: ICD10CM:E66.9
has db xref: ICD9CM:278.00
has db xref: MESH:D009765
has db xref: MIM:601665
has db xref: NCI:C159658
has db xref: SNOMEDCT_US_2023_03_01:5476005
has db xref: UMLS_CUI:C0028754
has OBO namespace: disease_ontology
id: DOID:9970
in subset: DO FlyBase slim
in subset: NCIthesaurus
comment: OMIM mapping confirmed by DO. [SN].

Axiom
annotated source: obesity
annotated property: IAO_0000115
annotated target: 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.
type: ECO_0007638
has db xref: url:https://en.wikipedia.org/wiki/Obesity