Cardiomyopathy, familial hypertrophic, 2

Preferred Label : Cardiomyopathy, familial hypertrophic, 2;

Symbol : CMH2;

CISMeF acronym : CMH2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant (1q3); other forms at loci on chromosomes 11, 14, 15 and at least one other locus;

Prefixed ID : #115195;

Details

Origin ID

115195;

UMLS CUI

C1861864;

Automatic exact mappings (from CISMeF team)
- TNNT2 wt Allele [NCIt concept]
- symbol withdrawn CMH2 [HGNC gene]
Broader ORDO disease(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 2 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 2 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 2 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 2 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 2 [DO Concept]
Genes related to phenotype
- Troponin t2, cardiac [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 2 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 2 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 2 [MeSH concept]
- hypertrophic cardiomyopathy 2 [DO Concept]

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