Melanocortin 4 Receptor Deficiency

Preferred Label : Melanocortin 4 Receptor Deficiency;

NCIt related terms : MC4R Deficiency;

NCIt definition : Deficiency or dysfunction of the melanocortin 4 receptor, associated with loss-of-function mutation(s) in the MCFR4 gene.;

Alternative definition : NICHD: Deficiency or dysfunction of the melanocortin 4 receptor, associated with loss-of-function mutation(s) in the MCR4 gene.;

Détails

Origin ID

C120394;

UMLS CUI

C4054546;

Automatic exact mappings (from CISMeF team)
- MC4R deficiency [MedDRA LLT]
- Melanocortin 4 receptor deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Body mass index quantitative trait locus 20 [OMIM Phenotype]
- Obesity due to melanocortin 4 receptor deficiency [ORDO Disease]
- Obesity due to melanocortin 4 receptor deficiency (disorder) [SNOMED CT concept]
- Obesity due to melanocortin-4 receptor deficiency [ICD-11 More detail]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- MC4R deficiency [MedDRA LLT]
- Melanocortin 4 receptor deficiency [MedDRA Preferred Term]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- MC4R Gene [NCIt concept]

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

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