Search Ontology:
Human Disease
cataract 22 multiple types
- Term ID
- DOID:0110268
- Synonyms
-
- autosomal recessive congenital nuclear cataract 2
- CATCN2
- CTRCT22
- Definition
- A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. https://www.ncbi.nlm.nih.gov/pubmed/15914629
- References
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- ICD10CM:Q12.0
- MIM:609741
- Ontology
- Human Disease ( DOID:0110268 )
- is a type of
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Genes Involved
Zebrafish Models