| Metadata | |
|---|---|
| ID | DOID:0051068 |
| PURL | http://purl.obolibrary.org/obo/DOID_0051068 Copy |
| Name | early-onset obesity, adrenal insufficiency, and red hair |
| 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. https://pubmed.ncbi.nlm.nih.gov/27468060/, https://medlineplus.gov/genetics/condition/proopiomelanocortin-deficiency/ |
| Xrefs | |
| Synonyms |
POMC deficiency [EXACT] pro-opiomelanocortin deficiency [EXACT] proopiomelanocortin deficiency syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |