auditory neuropathy and optic atrophy Disease Ontology Browser

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Disease Ontology Browser

auditory neuropathy and optic atrophy (DOID:0070735)
Alliance: disease page
Synonyms: MMDS9A; multiple mitochondrial dysfunctions syndrome 9A
Alt IDs: OMIM:617717, ORDO:542585
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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