Search Ontology:
Human Disease

auditory neuropathy and optic atrophy

Term ID
DOID:0070735
Synonyms
  • MMDS9A
  • multiple mitochondrial dysfunctions syndrome 9A
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/
References
  • GARD:0017983
  • MIM:617717
  • ORDO:542585
  • SNOMEDCT_US_2026_03_01:1222649004
Ontology
Human Disease   ( DOID:0070735 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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