| Metadata | |
|---|---|
| ID | DOID:0111340 |
| Name | dominant optic atrophy plus syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12566046, https://www.ncbi.nlm.nih.gov/pubmed/20157015 |
| Xrefs |
SNOMEDCT_US_2023_03_01:715374003 |
| Subsets |
DO_rare_slim |
| Synonyms |
DOA+ [EXACT] optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has symptom some ataxia disease has feature some sensorineural hearing loss has symptom some loss of vision has symptom some hyperreflexia has material basis in some autosomal dominant inheritance has symptom some muscle cramp |