ZFIN Human Disease: dominant optic atrophy plus syndrome

OBO ID: DOID:0111340

Term Name:	dominant optic atrophy plus syndrome		Search Ontology:
Synonyms:	DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
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. (2)
References:	GARD:5243 OMIM:125250 SNOMEDCT_US_2023_03_01:715374003 UMLS_CUI:C3276549
Ontology:	Human Disease ( DOID:0111340 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER dominant optic atrophy plus syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
OPA1	opa1	Optic atrophy plus syndrome	125250

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None