Cardiomyopathy, familial restrictive, 1

Preferred Label : Cardiomyopathy, familial restrictive, 1;

Symbol : RCM1;

CISMeF acronym : RCM; RCM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : RCM;

Inheritance : Autosomal dominant;

Prefixed ID : #115210;

Details

Origin ID

115210;

UMLS CUI

C1861861;

Automatic exact mappings (from CISMeF team)
- Red Cell Mass [NCIt concept]
- Reflectance Confocal Microscopy [NCIt concept]
- TNNI3 wt Allele [NCIt concept]
- restrictive cardiomyopathy 1 [DO Concept]
Broader ORDO disease(s)
- Familial isolated restrictive cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Familial restrictive cardiomyopathy type 1 [ORDO Disease]
- cardiomyopathy, familial restrictive, 1 [MeSH concept]
- cardiomyopathy, familial restrictive, 1 [MeSH Supplementary Concept]
DO Cross reference
- restrictive cardiomyopathy [DO Concept]
- restrictive cardiomyopathy 1 [DO Concept]
Genes related to phenotype
- Troponin I, cardiac [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Left atrial enlargement [HPO term]
- Left ventricular hypertrophy [HPO term]
- Restrictive cardiomyopathy [HPO term]
- Sudden cardiac death [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Familial isolated restrictive cardiomyopathy [ORDO Disease]
- Familial restrictive cardiomyopathy type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial restrictive cardiomyopathy type 1 [ORDO Disease]
- cardiomyopathy, familial restrictive, 1 [MeSH Supplementary Concept]
- cardiomyopathy, familial restrictive, 1 [MeSH concept]
Validated automatic mappings to NTBT
- Familial isolated restrictive cardiomyopathy [ORDO Disease]

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