Preferred Label : Cataract 6, multiple types;
Symbol : CTRCT6;
CISMeF acronym : ARCC2; CTPP1; CTRCT6;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cataract, posterior polar, 1; CTPP1; ARCC2; Cataract, age-related cortical, 2;
Description : Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which
have been described as posterior polar, congenital total, complete, and age-related
cortical. The preferred title/symbol of this entry was formerly 'Cataract, posterior
polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2;;
Inheritance : Autosomal dominant;
Prefixed ID : #116600;
Origin ID : 116600;
UMLS CUI : C1861825;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
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UMLS correspondences (same concept)