Cardiomyopathy, familial restrictive, 3

Preferred Label : Cardiomyopathy, familial restrictive, 3;

Symbol : RCM3;

CISMeF acronym : RCM3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cardiac troponin T2 gene (TNNT2, 191045.0011);

Prefixed ID : #612422;

Details

Origin ID

612422;

UMLS CUI

C2676271;

Automatic exact mappings (from CISMeF team)
- TNNT2 wt Allele [NCIt concept]
- restrictive cardiomyopathy 3 [DO Concept]
Broader ORDO disease(s)
- Familial isolated restrictive cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Familial restrictive cardiomyopathy type 3 [ORDO Disease]
- cardiomyopathy, familial restrictive, 3 [MeSH concept]
- cardiomyopathy, familial restrictive, 3 [MeSH Supplementary Concept]
DO Cross reference
- restrictive cardiomyopathy 3 [DO Concept]
Genes related to phenotype
- Troponin t2, cardiac [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
ORDO concept(s)
- Familial isolated restrictive cardiomyopathy [ORDO Disease]
- Familial restrictive cardiomyopathy type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial restrictive cardiomyopathy type 3 [ORDO Disease]
- cardiomyopathy, familial restrictive, 3 [MeSH Supplementary Concept]
- cardiomyopathy, familial restrictive, 3 [MeSH concept]
Validated automatic mappings to NTBT
- Familial isolated restrictive cardiomyopathy [ORDO Disease]

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