Dilated Cardiomyopathy-1DD

Preferred Label : Dilated Cardiomyopathy-1DD;

NCIt synonyms : CMD1DD;

NCIt definition : An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the RBM20 gene, encoding RNA-binding protein 20.;

Détails

Origin ID

C174435;

UMLS CUI

C2750995;

Currated CISMeF NLP mapping
- Cardiomyopathy, dilated, 1dd [OMIM Phenotype]
- cardiomyopathy, dilated, 1DD [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1DD [MeSH concept]
- dilated cardiomyopathy 1DD [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, 1dd [OMIM Phenotype]
- cardiomyopathy, dilated, 1DD [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1DD [MeSH concept]
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
- RBM20 Gene [NCIt concept]

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

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