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 cataract |