ZFIN Human Disease: cataract 22 multiple types

OBO ID: DOID:0110268

Term Name:	cataract 22 multiple types		Search Ontology:
Synonyms:	autosomal recessive congenital nuclear cataract 2 CATCN2 CTRCT22
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
References:	ICD10CM:Q12.0 OMIM:609741
Ontology:	Human Disease ( DOID:0110268 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease cataract autosomal dominant disease autosomal recessive disease cataract Show first 5 Terms

OTHER cataract 22 multiple types PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CRYBB3	crybb3	Cataract 22	609741

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None