Familial Restrictive Cardiomyopathy 5

Preferred Label : Familial Restrictive Cardiomyopathy 5;

NCIt synonyms : RCM5;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the FLNC gene, encoding filamin-C. It is characterized by restrictive cardiomyopathy in the context of normal contractility, left ventricular wall thickness and systolic function.;

NCI Metathesaurus CUI : CL602279;

Details

Origin ID

C183309;

UMLS CUI

C4310748;

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]
Validated automatic mappings to NTBT
- Cardiomyopathy, familial hypertrophic, 26 [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
- FLNC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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