optic atrophy 3

Term ID

DOID:0111433

Synonyms

• ADOAC
• autosomal dominant optic atrophy 3
• autosomal dominant optic atrophy and cataract
• autosomal dominant optic atrophy type 3
• OPA3
• optic atrophy 3 with cataract

Definition

An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. https://www.ncbi.nlm.nih.gov/pubmed/15342707

References

• GARD:10203
• MESH:C537128
• OMIM:165300
• ORDO:67036
• SNOMEDCT_US_2023_03_01:719517009
• UMLS_CUI:C1833809

Ontology

Human Disease   ( DOID:0111433 )