Dilated Cardiomyopathy-1HH

Preferred Label : Dilated Cardiomyopathy-1HH;

NCIt synonyms : CMD1HH;

NCIt definition : An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the BAG3 gene, encoding BAG family molecular chaperone regulator 3.;

Details

Origin ID

C192082;

UMLS CUI

C3151293;

Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Heart [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Respiratory System [NCIt concept]
- Thoracic Cavity [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiomyopathy, dilated, 1hh [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- BAG3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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