Cardiomyopathy, familial hypertrophic, 9

Preferred Label : Cardiomyopathy, familial hypertrophic, 9;

Symbol : CMH9;

CISMeF acronym : CMH9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the titin gene (TTN, 188840.0001);

Prefixed ID : #613765;

Détails

Origin ID

613765;

UMLS CUI

C1861065;

Currated CISMeF NLP mapping
- cardiomyopathy, familial hypertrophic, 9 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 9 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 9 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 9 [DO Concept]
Genes related to phenotype
- Titin [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]
- TTN wt Allele [NCIt concept]
- titin [ORDO Gene]
- titin [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiomyopathy, familial hypertrophic, 9 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 9 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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