Body mass index quantitative trait locus 20

Preferred Label : Body mass index quantitative trait locus 20;

Symbol : BMIQ20;

CISMeF acronym : BMIQ20;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mc4r deficiency; Melanocortin 4 receptor deficiency; OBESITY;

Included titles and symbols : Obesity, resistance to;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the melanocortin-4 receptor (MC4R, 155541.0001);

Prefixed ID : #618406;

Details

Origin ID

618406;

UMLS CUI

C4759928;

Automatic exact mappings (from CISMeF team)
- MC4R deficiency [MedDRA LLT]
- Melanocortin 4 receptor deficiency [MedDRA Preferred Term]
- OBESITY [WHO-ART Preferred Term]
- Obese [NCIt concept]
- Obese [ICNP subject]
- Obese (finding) [SNOMED CT concept]
- Obesity [HPO term]
- Obesity [ICD-11 Category]
- Obesity [DeCS]
- Obesity [NCIt concept]
- Obesity [HPMULTI term]
- Obesity [MedDRA Preferred Term]
- Obesity [PASCAL descriptor]
- Obesity [PASCAL theme]
- Obesity (disorder) [SNOMED CT concept]
- Obesity, CTCAE [NCIt concept]
- obesity [ICPC-2 Rubric]
- obesity [MedlinePlus Topic]
- obesity [MeSH concept]
- obesity [MeSH Descriptor]
- obesity [DO Concept]
- obesity [COVID-19 Thesaurus concept]
- obesity [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Melanocortin 4 Receptor Deficiency [NCIt concept]
- Obesity due to melanocortin 4 receptor deficiency [ORDO Disease]
- Obesity due to melanocortin-4 receptor deficiency [ICD-11 More detail]
Genes related to phenotype
- Melanocortin 4 receptor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hyperinsulinemia [HPO term]
- Increased bone mineral density [HPO term]
- Obesity [HPO term]
- Polyphagia [HPO term]
- Tall stature [HPO term]
ORDO concept(s)
- Obesity due to melanocortin 4 receptor deficiency [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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