Cardiomyopathy, familial hypertrophic, 7

Preferred Label : Cardiomyopathy, familial hypertrophic, 7;

Symbol : CMH7;

CISMeF acronym : CMH7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cardiac troponin I gene (TNNI3, 191044.0001);

Prefixed ID : #613690;

Détails

Origin ID

613690;

UMLS CUI

C1860752;

Automatic exact mappings (from CISMeF team)
- TNNI3 wt Allele [NCIt concept]
- troponin I3, cardiac type [ORDO Gene]
- troponin I3, cardiac type [HGNC gene]
Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 7 [NCIt concept]
- hypertrophic cardiomyopathy 7 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 7 [DO Concept]
Genes related to phenotype
- Troponin I, cardiac [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Heterogeneous [HPO term]
- Ventricular hypertrophy [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 7 [NCIt concept]
- hypertrophic cardiomyopathy 7 [DO Concept]

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

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