Search Ontology:
Human Disease
cataract 17 multiple types
- Term ID
- DOID:0110270
- Synonyms
-
- autosomal recessive congenital nuclear cataract 3
- CATCN3
- CTRCT17
- Definition
- A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/12360425
- References
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- ICD10CM:Q12.0
- MIM:611544
- Ontology
- Human Disease ( DOID:0110270 )
- is a type of
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Genes Involved
Zebrafish Models