Leptin Receptor Deficiency

Preferred Label : Leptin Receptor Deficiency;

NCIt definition : Deficiency or dysfunction of the leptin receptor associated with loss-of-function mutation(s) in the LEPR gene.;

Alternative definition : NICHD: Deficiency or dysfunction of the leptin receptor, which is associated with loss-of-function mutation(s) in the LEPR gene.;

Details

Origin ID

C120386;

UMLS CUI

C3554225;

Currated CISMeF NLP mapping
- Leptin receptor deficiency [OMIM Phenotype]
- Leptin receptor deficiency [MedDRA Preferred Term]
See also inter- (CISMeF)
- Obesity due to leptin receptor gene deficiency [ICD-11 More detail]
- Obesity due to leptin receptor gene deficiency [ORDO Disease]
- Obesity due to leptin receptor gene deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leptin receptor deficiency [OMIM Phenotype]
- Leptin receptor deficiency [MedDRA Preferred Term]
- Obesity due to leptin receptor gene deficiency [ORDO Disease]
- Obesity due to leptin receptor gene deficiency [ICD-11 More detail]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_mapped_to_gene
- LEPR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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