Obesity - CISMeF

Preferred Label : Obesity;

Type : Phenotype, molecular basis known;

Included titles and symbols : Leanness;

Inheritance : Autosomal recessive; Multifactorial; Autosomal dominant;

Molecular basis : Caused by mutation in the melanocortin-4 receptor gene (MC4R, 155541.0001); Susceptibility conferred by mutation in the uncoupling protein-1 gene (UCP1, 113730.0001); Susceptibility conferred by mutation in the cocaine- and amphetamine-regulated transcript prepropeptide (CARTPT, 602606.0001); Caused by mutation in the nuclear receptor subfamily 0, group B, member 2 gene (NR0B2, 604630.0001); Caused by mutation in the gamma peroxisome proliferator activated receptor gene (PPARG, 601487.0001); Susceptibility conferred by mutation in the uncoupling protein-2 gene (UCP2, 601693.0001); Susceptibility conferred by mutation in the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1, 173335.0001); Susceptibility conferred by mutation in the homolog of the mouse agouti gene (AGRP, 602311.0001); Caused by mutation in the uncoupling protein-3 gene (UCP3, 602044.0001); Susceptibility conferred by mutation in the ghrelin gene (GHRL, 605353.0001); Susceptibility conferred by mutation in the proopiomelanocortin gene (POMC, 176830.0001); Susceptibility conferred by mutation in the beta-2-adrenergic receptor gene (ADRB2, 109690.0002); Susceptibility conferred by mutation in the beta-3-adrenergic receptor gene (ADRB3, 109691.0001);

Prefixed ID : #601665;

Details

Origin ID

601665;

UMLS CUI

C0028754;

Automatic exact mappings (from CISMeF team)
- Obese [NCIt concept]
- Obesity due to melanocortin 4 receptor deficiency [ORDO Disease]
- Obesity, CTCAE [NCIt concept]
- Obtuse (qualifier value) [SNOMED CT concept]
- thinness [MeSH Descriptor]
Currated CISMeF NLP mapping
- OBESITY [WHO-ART Preferred Term]
- Obese [ICNP subject]
- Obese (finding) [SNOMED CT concept]
- Obesity [HPO term]
- Obesity [DeCS]
- Obesity [NCIt concept]
- Obesity [MedDRA Preferred Term]
- Obesity [PASCAL descriptor]
- Obesity [ICD-10 category (who)]
- Obesity [ICD-11 Category]
- Obesity [HPMULTI term]
- Obesity [PASCAL theme]
- Obesity (disorder) [SNOMED CT concept]
- Obesity (disorder) [Inactive SNOMED CT concept]
- Obesity, unspecified [ICD-10 Sub-category]
- Obesity, unspecified [ICD-10 Sub-category (who)]
- Overweight and obesity [ICD-9 code]
- obesity [Disease (Nov.)]
- obesity [ICPC-2 Rubric]
- obesity [MedlinePlus Topic]
- obesity [MeSH concept]
- obesity [DO Concept]
- obesity [MeSH Descriptor]
- obesity [COVID-19 Thesaurus concept]
- obesity [Artificial nutrition thesaurus concept]
- obesity, nos [SNOMED Notion]
DO Cross reference
- obesity [DO Concept]
False automatic mappings
- leanness [Disease (Nov.)]
Genes related to phenotype
- Agouti-related neuropeptide [OMIM gene]
- Beta-3-adrenergic receptor [OMIM gene]
- Cart prepropeptide [OMIM gene]
- Ectonucleotide pyrophosphatase/phosphodiesterase 1 [OMIM gene]
- Ghrelin [OMIM gene]
- Nuclear receptor subfamily 0, group b, member 2 [OMIM gene]
- Peroxisome proliferator-activated receptor-gamma [OMIM gene]
- Proopiomelanocortin [OMIM gene]
- Syndecan 3 [OMIM gene]
- Uncoupling protein 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased resting energy expenditure [HPO term]
- Increased waist to hip ratio [HPO term]
- Obesity [HPO term]
- Polygenic inheritance [HPO term]
Narrower ORDO disease(s)
- Obesity due to melanocortin 4 receptor deficiency [ORDO Disease]
ORDO concept(s)
- Obesity due to melanocortin 4 receptor deficiency [ORDO Disease]
- Obesity due to pro-opiomelanocortin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- OBESITY [WHO-ART Preferred Term]
- Obese [NCIt concept]
- Obese (finding) [SNOMED CT concept]
- Obesity [ICD-10 category (who)]
- Obesity [MedDRA Preferred Term]
- Obesity [NCIt concept]
- Obesity [HPO term]
- Obesity [DeCS]
- Obesity [PASCAL descriptor]
- Obesity (disorder) [SNOMED CT concept]
- Obesity, unspecified [ICD-10 Sub-category (who)]
- Obesity, unspecified [MedDRA LLT]
- Obesity, unspecified [ICD-10 Sub-category]
- Obesity, unspecified [ICD-9 code]
- Overweight [ICD-11 Subcategory]
- obesity [MedlinePlus Topic]
- obesity [MeSH Descriptor]
- obesity [MeSH concept]
- obesity [ICPC-2 Rubric]
- obesity [DO Concept]
- obesity [Disease (Nov.)]
- obesity, nos [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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