ZFIN Human Disease: cataract 33

OBO ID: DOID:0110264

Term Name:	cataract 33		Search Ontology:
Synonyms:	cortical cataract 33 CTRCT33
Definition:	A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. https://www.ncbi.nlm.nih.gov/pubmed/17225135
References:	ICD10CM:Q12.0 OMIM:611391
Ontology:	Human Disease ( DOID:0110264 )

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 33 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
BFSP1	bfsp1	Cataract 33, multiple types	611391

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None