Dilated Cardiomyopathy-2C

Preferred Label : Dilated Cardiomyopathy-2C;

NCIt synonyms : CMD2C;

NCIt definition : An autosomal recessive subtype of dilated cardiomyopathy caused by mutation(s) in the PPCS gene, encoding phosphopantothenate--cysteine ligase.;

NCI Metathesaurus CUI : CL967749;

Details

Origin ID

C186785;

UMLS CUI

C4748647;

Currated CISMeF NLP mapping
- Cardiomyopathy, dilated, 2c [OMIM Phenotype]
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, 2c [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
- PPCS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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