Search Ontology:
Human Disease

cataract 17 multiple types

Term ID
DOID:0110270
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
Ontology
Human Disease   ( DOID:0110270 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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