| Metadata | |
|---|---|
| ID | DOID:0110264 |
| Name | cataract 33 |
| Definition | A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. https://www.ncbi.nlm.nih.gov/pubmed/17225135 |
| Xrefs | |
| Synonyms |
cortical cataract 33 [NARROW] CTRCT33 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a cataract |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance |