Long QT Syndrome 14

Preferred Label : Long QT Syndrome 14;

NCIt synonyms : LQT14;

NCIt definition : An autosomal dominant subtype of long QT syndrome caused by mutation(s) in the CALM1 gene, encoding calmodulin-1.;

Détails

Origin ID

C177534;

UMLS CUI

C4015671;

Automatic exact mappings (from CISMeF team)
- long QT syndrome 14 [DO Concept]
Currated CISMeF NLP mapping
- Long qt syndrome 14 [OMIM Phenotype]
Has associated anatomic sites
- Cardiovascular System [NCIt concept]
- Heart [NCIt concept]
- Respiratory System [NCIt concept]
- Thoracic Cavity [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Long qt syndrome 14 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Cardiovascular System [NCIt concept]
- Heart [NCIt concept]
- Thoracic Cavity [NCIt concept]
disease_mapped_to_gene
- CALM1 Gene [NCIt concept]

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

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