ZFIN Human Disease: cataract 17 multiple types

OBO ID: DOID:0110270

Term Name:	cataract 17 multiple types		Search Ontology:
Synonyms:	autosomal recessive congenital nuclear cataract 3 CATCN3 CTRCT17
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
References:	ICD10CM:Q12.0 OMIM:611544
Ontology:	Human Disease ( DOID:0110270 )

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 17 multiple types PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CRYBB1	crybb1	Cataract 17, multiple types	611544

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None