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DOID:0111340 - dominant optic atrophy plus syndrome
Disease Ontology Definition: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.
Synonyms: DOA+, optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy,
Xenbase Genes
:
opa1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)