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DO Term : optic atrophy 10 [DOID:0111434] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21.

synonyms:
optic atrophy 10 with or without ataxia, mental retardation, and seizures,
OPA10,
616732,
OMIM:616732

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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