Metadata | |
---|---|
ID | DOID:0110239 |
Name | cataract 12 multiple types |
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 |
Xrefs | |
Synonyms |
CTRCT12 [EXACT] |
Parent Relationships |
is_a cataract |