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obesity due to pro-opiomelanocortin deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin.
Uniprot Description An autosomal recessive disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism.
Mondo Term and Equivalent IDs
MONDO:0012335:  obesity due to pro-opiomelanocortin deficiency
GARD:0010823: 
MESH:C565726: 
Orphanet:71526: 
SCTID:702949005: 
UMLS:C1857854: