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Metadata
ID DOID:0111437
Name optic atrophy 7
Definition An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.
https://www.ncbi.nlm.nih.gov/pubmed/19327736
Xrefs

MESH:C567833

OMIM:612989

Synonyms

OPA7 [EXACT]

optic atrophy 7 with or without auditory neuropathy [EXACT]

Parent Relationships

is_a optic atrophy

is_a autosomal recessive disease

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