Obesity, early-onset, with adrenal insufficiency and red hair

Preferred Label : Obesity, early-onset, with adrenal insufficiency and red hair;

Symbol : OBAIRH;

CISMeF acronym : OBAIRH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Proopiomelanocortin deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the proopiomelanocortin gene (POMC, 176830.0001);

Laboratory abnormalities : Hyperbilirubinemia; Decreased plasma cortisol;

Prefixed ID : #609734;

Détails

Origin ID

609734;

UMLS CUI

C1857854;

Automatic exact mappings (from CISMeF team)
- Pro-opiomelanocortin deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Obesity due to pro-opiomelanocortin deficiency [ICD-11 More detail]
- Obesity due to pro-opiomelanocortin deficiency [ORDO Disease]
- Pro-Opiomelanocortin Deficiency [NCIt concept]
- Proopiomelanocortin deficiency syndrome (disorder) [SNOMED CT concept]
- proopiomelanocortin deficiency [MeSH concept]
- proopiomelanocortin deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Proopiomelanocortin [OMIM gene]
HPO term(s)
- Adrenal hypoplasia [HPO term]
- Adrenal insufficiency [HPO term]
- Adrenocorticotropic hormone deficiency [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholestasis [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Gonadotropin deficiency [HPO term]
- Hyperbilirubinemia [HPO term]
- Hypoglycemic seizures [HPO term]
- Infantile onset [HPO term]
- Obesity [HPO term]
- Polyphagia [HPO term]
- Red hair [HPO term]
ORDO concept(s)
- Obesity due to pro-opiomelanocortin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Obesity due to pro-opiomelanocortin deficiency [ORDO Disease]
- Pro-Opiomelanocortin Deficiency [NCIt concept]
- Pro-opiomelanocortin deficiency [MedDRA Preferred Term]
- Proopiomelanocortin deficiency syndrome (disorder) [SNOMED CT concept]
- proopiomelanocortin deficiency [MeSH Supplementary Concept]
- proopiomelanocortin deficiency [MeSH concept]

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

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