Dilated Cardiomyopathy-1A

Preferred Label : Dilated Cardiomyopathy-1A;

NCIt synonyms : CMD1A;

NCIt definition : An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the LMNA gene, encoding lamin-A and lamin C.;

Détails

Origin ID

C165596;

UMLS CUI

C1449563;

Automatic exact mappings (from CISMeF team)
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
Currated CISMeF NLP mapping
- Cardiomyopathy, dilated, 1a [OMIM Phenotype]
- dilated cardiomyopathy 1A [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, dilated, 1a [OMIM Phenotype]
- Primary idiopathic dilated cardiomyopathy (disorder) [SNOMED CT concept]
- cardiomyopathy, familial idiopathic [MeSH concept]
- dilated cardiomyopathy 1A [DO Concept]
- primary idiopathic dilated cardiomyopathy [SNOMED Notion]
- primary idiopathic dilated cardiomyopathy [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [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
- LMNA Gene [NCIt concept]

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

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