Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy

Preferred Label : Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy;

Symbol : CTRCT46;

CISMeF acronym : CTRCT46;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cataract, juvenile, hutterite type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the LEM domain-containing protein-2 gene (616312.0001);

Prefixed ID : #212500;

Details

Origin ID

212500;

UMLS CUI

C0220721;

Automatic exact mappings (from CISMeF team)
- Early-onset non-syndromic cataract [ORDO Disease]
Currated CISMeF NLP mapping
- Cataract Hutterite type [MeSH concept]
- Cataract, Hutterite type [ORDO Disease]
- Hutterite-type cataract [ICD-11 More detail]
- cataract 46 juvenile-onset [DO Concept]
- cataract hutterite type [MeSH Supplementary Concept]
DO Cross reference
- cataract 46 juvenile-onset [DO Concept]
Genes related to phenotype
- Lem domain-containing protein 2 [OMIM gene]
HPO term(s)
- Arrhythmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Juvenile cataract [HPO term]
- Sudden cardiac death [HPO term]
ORDO concept(s)
- Cataract, Hutterite type [ORDO Disease]
- Early-onset non-syndromic cataract [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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