Familial Hypertrophic Cardiomyopathy Type 11

Preferred Label : Familial Hypertrophic Cardiomyopathy Type 11;

NCIt synonyms : CMH11;

NCIt definition : An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, alpha cardiac muscle 1.;

NCI Metathesaurus CUI : CL1793914;

Détails

Origin ID

C188990;

UMLS CUI

C2677506;

Currated CISMeF NLP mapping
- Cardiomyopathy, familial hypertrophic, 11 [OMIM Phenotype]
- cardiomyopathy, familial hypertrophic, 11 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 11 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 11 [DO Concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Heart [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Respiratory System [NCIt concept]
- Soft Tissue [NCIt concept]
- Thoracic Cavity [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy, familial hypertrophic, 11 [OMIM Phenotype]
- cardiomyopathy, familial hypertrophic, 11 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 11 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Cardiovascular System [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Heart [NCIt concept]
- Muscle [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Myocardium [NCIt concept]
- Soft Tissue [NCIt concept]
- Thoracic Cavity [NCIt concept]
disease_mapped_to_gene
- ACTC1 Gene [NCIt concept]

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

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