Cataract 12, multiple types

Preferred Label : Cataract 12, multiple types;

Symbol : CTRCT12;

CISMeF acronym : CTRCT12;

Type : Phenotype, molecular basis known;

Description : Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gene encoding the beaded filament structural protein 2 (BFSP2, 603212.0001);

Prefixed ID : #611597;

Details

Origin ID

611597;

UMLS CUI

C3808115;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
- Early-onset partial cataract [ORDO Disease]
Currated CISMeF NLP mapping
- cataract 12 multiple types [DO Concept]
- cataract, autosomal dominant, multiple types 1 [MeSH concept]
- cataract, autosomal dominant, multiple types 1 [MeSH Supplementary Concept]
DO Cross reference
- cataract 12 multiple types [DO Concept]
Genes related to phenotype
- Beaded filament structural protein 2 [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Developmental cataract [HPO term]
- Myopia [HPO term]
- Progressive 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 12 multiple types [DO Concept]

Keyword's position in hierarchy(ies) :

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