| Metadata | |
|---|---|
| ID | DOID:0110270 |
| Name | cataract 17 multiple types |
| Definition | A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/12360425 |
| Xrefs | |
| Synonyms |
autosomal recessive congenital nuclear cataract 3 [NARROW] CATCN3 [NARROW] CTRCT17 [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 |