Domit Optic Atrophy Plus Syndrome

Disease ID: disease_node_17741

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Dbxref	GARD:5243, MIM:125250, SNOMEDCT_US_2023_03_01:715374003, UMLS_CUI:C3276549
Subclassof	DOID_0050736, DOID_225
Data Source	DOID
Synonyms	DOA+, optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Disease Has Feature	DOID_10003
Doid Label	domit optic atrophy plus syndrome
Doid Description	A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29.
Has Symptom	SYMP_0000321, SYMP_0000005, SYMP_0000058, SYMP_0000093
Has Material Basis In	GENO_0000147
Disease Node Id	disease_node_17741
Doid Id	DOID_0111340
Label	Domit Optic Atrophy Plus Syndrome

Outgoing r'ship HAS_SYMPTOM to/from Ataxia(ID:disease_node_1424;disease_node_21621) (Disease)
Outgoing r'ship HAS_SYMPTOM to/from Muscle Cramp(ID:disease_node_5297;disease_node_21030) (Disease)
Outgoing r'ship HAS_SYMPTOM to/from Loss Of Vision(ID:disease_node_21716) (Disease)
Outgoing r'ship HAS_SYMPTOM to/from Hyperreflexia(ID:disease_node_21436) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Syndrome(ID:disease_node_7213) (Disease)

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