Preferred Label : Cataract 17, multiple types;
Symbol : CTRCT17;
CISMeF acronym : CATCN3; CTRCT17;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cataract 17, multiple types, with or without microcornea; CATCN3; Cataract, congenital nuclear, autosomal recessive 3;
Description : Mutations in the CRYBB1 gene have been found to cause multiple types of cataract,
which have been described as congenital nuclear and pulverulent. Autosomal dominant
and autosomal recessive forms have been described. The preferred title/symbol for
this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.';
Inheritance : Autosomal recessive; Autosomal dominant;
Molecular basis : Caused by mutation in the beta-B1 crystallin gene (CRYBB1, 600929.0001);
Prefixed ID : #611544;
Origin ID : 611544;
UMLS CUI : C3888124;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)