Cataract 22, multiple types

Preferred Label : Cataract 22, multiple types;

Symbol : CTRCT22;

CISMeF acronym : CATCN2; CTRCT22;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CATCN2; Cataract, congenital nuclear, autosomal recessive 2;

Description : Mutations in the CRYBB3 gene have been identified in 2 families with cataract, described as congenital nuclear cataract with cortical riders. The preferred title/symbol of this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 2; CATCN2.';

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the beta-B3 crystallin gene (CRYBB3, 123630.0001);

Prefixed ID : #609741;

Détails

Origin ID

609741;

UMLS CUI

C1857853;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset nuclear cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 22 multiple types [DO Concept]
- cataract, congenital nuclear, autosomal recessive 2 [MeSH concept]
- cataract, congenital nuclear, autosomal recessive 2 [MeSH Supplementary Concept]
DO Cross reference
- cataract 22 multiple types [DO Concept]
Genes related to phenotype
- Crystallin, beta-b3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Developmental cataract [HPO term]
- Glaucoma [HPO term]
- Nuclear cataract [HPO term]
ORDO concept(s)
- Early-onset non-syndromic cataract [ORDO Disease]
See also inter- (CISMeF)
- beta B3 crystallin associated cataract [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cataract, congenital nuclear, autosomal recessive 2 [MeSH Supplementary Concept]
- cataract, congenital nuclear, autosomal recessive 2 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients