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DO Term : optic atrophy 3 [DOID:0111433] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32.

synonyms:
ADOAC,
autosomal dominant optic atrophy type 3,
autosomal dominant optic atrophy 3,
MESH:C537128,
GARD:10203,
autosomal dominant optic atrophy and cataract,
ORDO:67036,
OMIM:165300,
OPA3,
UMLS_CUI:C1833809,
SNOMEDCT_US_2023_03_01:719517009,
optic atrophy 3 with cataract,
165300

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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