| Metadata | |
|---|---|
| ID | DOID:0070735 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070735 Copy |
| Name | auditory neuropathy and optic atrophy |
| Definition | A multiple mitochondrial dysfunctions syndrome characterized by bilateral auditory neuropathy and optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25. https://pubmed.ncbi.nlm.nih.gov/28965846/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1222649004 |
| SKOS |
exactMatch UMLS_CUI:C4521678 exactMatch GARD:0017983 exactMatch MIM:617717 exactMatch ORDO:542585 |
| Subsets |
DO_rare_slim |
| Synonyms |
MMDS9A [EXACT] multiple mitochondrial dysfunctions syndrome 9A [EXACT] |
| Parent Relationships |
is_a multiple mitochondrial dysfunctions syndrome is_a vestibulocochlear nerve disease is_a optic nerve disease |
| Subclass Logical Relationships |
disease has location some cranial nerve II has material basis in some autosomal recessive inheritance disease has location some vestibulocochlear nerve |