Left Ventricular Noncompaction 7

Preferred Label : Left Ventricular Noncompaction 7;

NCIt synonyms : LVNC7;

NCIt definition : An autosomal dominant sub-type of left ventricular noncompaction syndrome caused by heterozygous mutation(s) of the MIB1 gene, encoding E3 ubiquitin-protein ligase MIB1.;

Détails

Origin ID

C157266;

UMLS CUI

C3554496;

Currated CISMeF NLP mapping
- Left ventricular noncompaction 7 [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)
- Left ventricular noncompaction 7 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Cardiovascular System [NCIt concept]
- Heart [NCIt concept]
- Thoracic Cavity [NCIt concept]
disease_mapped_to_gene
- MIB1 Gene [NCIt concept]

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

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