Search Ontology:
Human Disease
cataract 1 multiple types
- Term ID
- DOID:0110231
- Synonyms
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- CAE1
- cataract 1, multiple types, with or without microcornea
- CTRCT1
- CZP1
- Duffy linked cataract
- zonular pulverulent cataract 1
- Definition
- A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. https://www.ncbi.nlm.nih.gov/pubmed/9497259
- References
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- ICD10CM:Q12.0
- MIM:116200
- Ontology
- Human Disease ( DOID:0110231 )
- is a type of
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Genes Involved
Zebrafish Models