Cataract 6, multiple types

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;

Détails

Origin ID

116600;

UMLS CUI

C1861825;

Automatic exact mappings (from CISMeF team)
- EPHA2 wt Allele [NCIt concept]
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset posterior polar cataract [ORDO Disease]
Broader ORDO disease(s)
- Early-onset posterior polar cataract [ORDO Disease]
Currated CISMeF NLP mapping
- Cataract, posterior polar, 1 [MeSH concept]
- cataract 6 multiple types [DO Concept]
- cataract, posterior polar, 1 [MeSH Supplementary Concept]
DO Cross reference
- cataract 6 multiple types [DO Concept]
Genes related to phenotype
- Ephrin receptor epha2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choroideremia [HPO term]
- Developmental cataract [HPO term]
- Myopia [HPO term]
- Posterior polar cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract, posterior polar, 1 [MeSH concept]
- cataract 6 multiple types [DO Concept]
- cataract, posterior polar, 1 [MeSH Supplementary Concept]

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