| 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 autosomal dominant disease is_a cataract |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |