| Metadata | |
|---|---|
| ID | DOID:0110269 |
| Name | cataract 3 multiple types |
| Definition | A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. https://www.ncbi.nlm.nih.gov/pubmed/9158139 |
| Xrefs | |
| Synonyms |
cataract 3 multiple types with or without microcornea [EXACT] CCA2 [NARROW] congenital Cerulean type cataract 2 [NARROW] CTRCT3 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a cataract |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |