Search Ontology:
Human Disease
optic atrophy 3
- Term ID
- DOID:0111433
- Synonyms
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- 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
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- GARD:10203
- MESH:C537128
- MIM:165300
- ORDO:67036
- SNOMEDCT_US_2023_03_01:719517009
- UMLS_CUI:C1833809
- Ontology
- Human Disease ( DOID:0111433 )
- is a type of
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Genes Involved
Zebrafish Models