{
    "disease_id": "DOID:0051068",
    "recommended_name": {
        "id": "DOID:0051068",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051068",
        "name": "early-onset obesity, adrenal insufficiency, and red hair",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0051068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051068",
            "name": "POMC deficiency",
            "description": ""
        },
        {
            "id": "DOID:0051068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051068",
            "name": "pro-opiomelanocortin deficiency",
            "description": ""
        },
        {
            "id": "DOID:0051068",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051068",
            "name": "proopiomelanocortin deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012335",
            "name": "obesity due to pro-opiomelanocortin deficiency",
            "description": "Pro-opiomelanocortin (POMC) deficiency is a form of monogenic obesity resulting in severe early-onset obesity, adrenal insufficiency, red hair and pale skin."
        },
        {
            "id": "MONDO:0012335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012335",
            "name": "POMC Deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012335",
            "name": "POMC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012335",
            "name": "obesity, adrenal insufficiency, and red hair due to POMC deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012335",
            "name": "OBAIRH",
            "description": ""
        },
        {
            "id": "MIM:609734",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609734",
            "name": "Obesity, early-onset, with adrenal insufficiency and red hair",
            "description": "Obesity, early-onset, with adrenal insufficiency and red hair"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051068"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051068",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051068",
            "categories": []
        },
        {
            "id": "MONDO:0012335",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012335",
            "categories": []
        },
        {
            "id": "MIM:609734",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609734",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P01189-1",
            "uniprot_ac": "P01189",
            "uniprot_id": "COLI_HUMAN",
            "refseq_ac": "NP_000930",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pro-opiomelanocortin",
                    "type": "recommended"
                },
                {
                    "name": "ACTH",
                    "type": "synonym"
                },
                {
                    "name": "Adrenocorticotropic hormone",
                    "type": "synonym"
                },
                {
                    "name": "Beta-LPH",
                    "type": "synonym"
                },
                {
                    "name": "Corticotropin-lipotropin",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-LPH",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-MSH",
                    "type": "synonym"
                },
                {
                    "name": "Melanotropin alpha",
                    "type": "synonym"
                },
                {
                    "name": "Melanotropin beta",
                    "type": "synonym"
                },
                {
                    "name": "POMC",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropic hormone",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-MSH",
                    "type": "synonym"
                },
                {
                    "name": "alpha-melanocyte-stimulating hormone",
                    "type": "synonym"
                },
                {
                    "name": "beta-LPH",
                    "type": "synonym"
                },
                {
                    "name": "beta-MSH",
                    "type": "synonym"
                },
                {
                    "name": "beta-endorphin",
                    "type": "synonym"
                },
                {
                    "name": "beta-melanocyte-stimulating hormone",
                    "type": "synonym"
                },
                {
                    "name": "corticotropin-like intermediary peptide",
                    "type": "synonym"
                },
                {
                    "name": "corticotropin-lipotropin",
                    "type": "synonym"
                },
                {
                    "name": "gamma-LPH",
                    "type": "synonym"
                },
                {
                    "name": "gamma-MSH",
                    "type": "synonym"
                },
                {
                    "name": "lipotropin beta",
                    "type": "synonym"
                },
                {
                    "name": "lipotropin gamma",
                    "type": "synonym"
                },
                {
                    "name": "melanotropin alpha",
                    "type": "synonym"
                },
                {
                    "name": "melanotropin beta",
                    "type": "synonym"
                },
                {
                    "name": "melanotropin gamma",
                    "type": "synonym"
                },
                {
                    "name": "met-enkephalin",
                    "type": "synonym"
                },
                {
                    "name": "opiomelanocortin prepropeptide",
                    "type": "synonym"
                },
                {
                    "name": "pro-ACTH-endorphin",
                    "type": "synonym"
                },
                {
                    "name": "pro-opiomelanocortin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "proopiomelanocortin preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMC",
                    "type": "recommended"
                },
                {
                    "name": "ACTH",
                    "type": "synonym"
                },
                {
                    "name": "CLIP",
                    "type": "synonym"
                },
                {
                    "name": "LPH",
                    "type": "synonym"
                },
                {
                    "name": "MSH",
                    "type": "synonym"
                },
                {
                    "name": "NPP",
                    "type": "synonym"
                },
                {
                    "name": "OBAIRH",
                    "type": "synonym"
                },
                {
                    "name": "POC",
                    "type": "synonym"
                },
                {
                    "name": "POMC",
                    "type": "synonym"
                }
            ],
            "record_id": "P01189-1",
            "evidence": [
                {
                    "id": "609734",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609734"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051068"
}