early-onset obesity, adrenal insufficiency, and red hair Disease Ontology Browser

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Disease Ontology Browser

early-onset obesity, adrenal insufficiency, and red hair (DOID:0051068)
Alliance: disease page
Synonyms: POMC deficiency; pro-opiomelanocortin deficiency; proopiomelanocortin deficiency syndrome
Alt IDs: OMIM:609734
Definition: A syndrome that is characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism and that has_material_basis_in homozygous or compound heterozygous mutation in the POMC gene on chromosome 2p23.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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