Metadata | |
---|---|
ID | DOID:0110268 |
Name | cataract 22 multiple types |
Definition | A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. https://www.ncbi.nlm.nih.gov/pubmed/15914629 |
Xrefs | |
Synonyms |
autosomal recessive congenital nuclear cataract 2 [NARROW] CATCN2 [NARROW] CTRCT22 [EXACT] |
Parent Relationships |
is_a cataract |