Cataract 20, multiple types

Preferred Label : Cataract 20, multiple types;

Symbol : CTRCT20;

CISMeF acronym : CTRCT20;

Type : Phenotype, molecular basis known;

Description : Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, or peripheral cortical.;

Inheritance : Autosomal dominant;

Prefixed ID : #116100;

Details

Origin ID

116100;

UMLS CUI

C3805410;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- cataract [MeSH Descriptor]
Currated CISMeF NLP mapping
- cataract 20 multiple types [DO Concept]
DO Cross reference
- cataract 20 multiple types [DO Concept]
Genes related to phenotype
- Crystallin, gamma-s [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Membranous cataract [HPO term]
ORDO concept(s)
- Early-onset lamellar cataract [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset sutural cataract [ORDO Disease]
See also inter- (CISMeF)
- Membranous cataract [HPO term]
- cataract, membranous [MeSH concept]
- membranous cataract [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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