Search Ontology:
Human Disease
cataract 12 multiple types
- Term ID
- DOID:0110239
- Synonyms
-
- CTRCT12
- Definition
- A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. https://www.ncbi.nlm.nih.gov/pubmed/10729115
- References
-
- ICD10CM:Q12.0
- MIM:611597
- Ontology
- Human Disease ( DOID:0110239 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models