{
    "disease_id": "DOID:0080621",
    "recommended_name": {
        "id": "DOID:0080621",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080621",
        "name": "glucocorticoid deficiency 1",
        "description": "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11."
    },
    "synonyms": [
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "glucocorticoid deficiency 1",
            "description": "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene."
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "MC2R familial glucocorticoid deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "familial glucocorticoid deficiency caused by mutation in MC2R",
            "description": ""
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "glucocorticoid deficiency 1",
            "description": ""
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "glucocorticoid deficiency, due to ACTH unresponsiveness",
            "description": ""
        },
        {
            "id": "MONDO:0024536",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "name": "GCCD1",
            "description": ""
        },
        {
            "id": "MIM:202200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/202200",
            "name": "Glucocorticoid deficiency 1",
            "description": "Glucocorticoid deficiency 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080621"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080621",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080621",
            "categories": []
        },
        {
            "id": "MONDO:0024536",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024536",
            "categories": []
        },
        {
            "id": "MIM:202200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/202200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZTA2-1",
            "uniprot_ac": "Q7ZTA2",
            "uniprot_id": "Q7ZTA2_DANRE",
            "refseq_ac": "NP_851302",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanocyte-stimulating hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "Melanocortin receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropic hormone receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mc2r",
                    "type": "recommended"
                },
                {
                    "name": "mc2r",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZTA2-1",
            "evidence": [
                {
                    "id": "0080621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64326-1",
            "uniprot_ac": "Q64326",
            "uniprot_id": "ACTHR_MOUSE",
            "refseq_ac": "NP_001258645",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adrenocorticotropic hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "ACTH receptor",
                    "type": "synonym"
                },
                {
                    "name": "ACTH-R",
                    "type": "synonym"
                },
                {
                    "name": "Adrenocorticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "MC2-R",
                    "type": "synonym"
                },
                {
                    "name": "Melanocortin receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "melanocortin receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mc2r",
                    "type": "recommended"
                },
                {
                    "name": "ACTH-R",
                    "type": "synonym"
                },
                {
                    "name": "ACTHR",
                    "type": "synonym"
                },
                {
                    "name": "Acthr",
                    "type": "synonym"
                },
                {
                    "name": "MC2-R",
                    "type": "synonym"
                },
                {
                    "name": "Mc2r",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64326-1",
            "evidence": [
                {
                    "id": "0080621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01718-1",
            "uniprot_ac": "Q01718",
            "uniprot_id": "ACTHR_HUMAN",
            "refseq_ac": "NP_000520",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adrenocorticotropic hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "ACTH receptor",
                    "type": "synonym"
                },
                {
                    "name": "ACTH-R",
                    "type": "synonym"
                },
                {
                    "name": "Adrenocorticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "MC2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "MC2-R",
                    "type": "synonym"
                },
                {
                    "name": "Melanocortin receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "corticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "melanocortin 2 receptor (adrenocorticotropic hormone)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MC2R",
                    "type": "recommended"
                },
                {
                    "name": "ACTHR",
                    "type": "synonym"
                },
                {
                    "name": "MC2R",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01718-1",
            "evidence": [
                {
                    "id": "202200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/202200"
                },
                {
                    "id": "0080621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080621"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M454-1",
            "uniprot_ac": "A0ABK0M454",
            "uniprot_id": "A0ABK0M454_RAT",
            "refseq_ac": "NP_001093961",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adrenocorticotropic hormone receptor",
                    "type": "recommended"
                },
                {
                    "name": "Adrenocorticotropin receptor",
                    "type": "synonym"
                },
                {
                    "name": "Melanocortin receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "adrenocorticotropic hormone receptor",
                    "type": "synonym"
                },
                {
                    "name": "melanocortin 2 receptor (adrenocorticotropic hormone)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mc2r",
                    "type": "recommended"
                },
                {
                    "name": "Mc2r",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M454-1",
            "evidence": [
                {
                    "id": "0080621",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080621"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080621"
}