Cardiomyopathy, familial hypertrophic, 26

Preferred Label : Cardiomyopathy, familial hypertrophic, 26;

Symbol : CMH26;

CISMeF acronym : CMH26; RCM5;

Type : Phenotype, molecular basis known;

Included titles and symbols : Cardiomyopathy, familial restrictive, 5; RCM5; ARVD15; ARVC15; Arrhythmogenic right ventricular dysplasia, familial, 15; Cardiomyopathy, dilated, 1pp; CMD1PP; Arrhythmogenic right ventricular cardiomyopathy 15;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the filamin-C gene (FLNC, 102565.0005);

Prefixed ID : #617047;

Details

Origin ID

617047;

UMLS CUI

C4310749;

CISMeF manual mappings
- hypertrophic cardiomyopathy 26 [DO Concept]
Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 26 [NCIt concept]
DO Cross reference
- hypertrophic cardiomyopathy 26 [DO Concept]
Genes related to phenotype
- Filamin C [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dyspnea [HPO term]
- Left atrial enlargement [HPO term]
- Mitral regurgitation [HPO term]
ORDO concept(s)
- Familial isolated restrictive cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hypertrophic Cardiomyopathy Type 26 [NCIt concept]
- hypertrophic cardiomyopathy 26 [DO Concept]
Validated automatic mappings to BTNT
- Familial Restrictive Cardiomyopathy 5 [NCIt concept]
Validated automatic mappings to NTBT
- Familial isolated restrictive cardiomyopathy [ORDO Disease]

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