About: dominant optic atrophy plus syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease syndrome nodeID://b50944616 nodeID://b50944617 nodeID://b50944618 nodeID://b50944619
label	dominant optic atrophy plus syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111340
database_cross_reference	GARD:5243 OMIM:125250 UMLS_CUI:C3276549
has_exact_synonym	DOA+ (en) optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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 OPA1 on chromosome 3q29.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50944620

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