Cataract 39, multiple types

Preferred Label : Cataract 39, multiple types;

Symbol : CTRCT39;

CISMeF acronym : CTRCT39;

Type : Phenotype, molecular basis known;

Description : Mutations in the CRYGB gene have been found to cause multiple types of cataract, which have been described as lamellar, anterior polar, and complete.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-B crystallin gene (CRYGB, 123670.0001);

Prefixed ID : #615188;

Details

Origin ID

615188;

UMLS CUI

C3808800;

Currated CISMeF NLP mapping
- cataract 39 multiple types [DO Concept]
DO Cross reference
- cataract 39 multiple types [DO Concept]
Genes related to phenotype
- Crystallin, gamma-b [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Developmental 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 39 multiple types [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients