Cardiomyopathy, familial hypertrophic, 3

Preferred Label : Cardiomyopathy, familial hypertrophic, 3;

Symbol : CMH3;

CISMeF acronym : CMH3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant (15); other forms at loci on chromosomes 1, 11, 14, and at least one other locus;

Prefixed ID : #115196;

Details

Origin ID

115196;

UMLS CUI

C1861863;

Automatic exact mappings (from CISMeF team)
- TPM1 wt Allele [NCIt concept]
- symbol withdrawn CMH3 [HGNC gene]
Broader ORDO disease(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 3 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 3 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 3 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 3 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 3 [DO Concept]
Genes related to phenotype
- Tropomyosin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
ORDO concept(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
See also inter- (CISMeF)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hypertrophic Cardiomyopathy Type 3 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 3 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 3 [MeSH concept]

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