Term Name: early-onset obesity, adrenal insufficiency, and red hair
Synonyms: POMC deficiency, pro-opiomelanocortin deficiency, proopiomelanocortin deficiency syndrome
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.
Ontology: Human Disease [DOID:0051068]   ( DOID:0051068 )

Relationships
is a type of: autosomal recessive disease syndrome