Search Ontology:
Human Disease

dominant optic atrophy plus syndrome

Term ID
DOID:0111340
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
  • MIM:125250
  • SNOMEDCT_US_2023_03_01:715374003
  • UMLS_CUI:C3276549
Ontology
Human Disease   ( DOID:0111340 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models