{
    "disease_id": "DOID:0061242",
    "recommended_name": {
        "id": "DOID:0061242",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061242",
        "name": "glucocorticoid deficiency 2",
        "description": "A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the MRAP gene, encoding melanocortin-2 receptor accessory protein, on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0011826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011826",
            "name": "glucocorticoid deficiency 2",
            "description": "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene."
        },
        {
            "id": "MONDO:0011826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011826",
            "name": "MRAP familial glucocorticoid deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011826",
            "name": "familial glucocorticoid deficiency caused by mutation in MRAP",
            "description": ""
        },
        {
            "id": "MONDO:0011826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011826",
            "name": "glucocorticoid deficiency 2",
            "description": ""
        },
        {
            "id": "MONDO:0011826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011826",
            "name": "glucocorticoid deficiency type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011826",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011826",
            "name": "GCCD2",
            "description": ""
        },
        {
            "id": "MIM:607398",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607398",
            "name": "Glucocorticoid deficiency 2",
            "description": "Glucocorticoid deficiency 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061242"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061242",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061242",
            "categories": []
        },
        {
            "id": "MONDO:0011826",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011826",
            "categories": []
        },
        {
            "id": "MIM:607398",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607398",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8TCY5-4",
            "uniprot_ac": "Q8TCY5",
            "uniprot_id": "MRAP_HUMAN",
            "refseq_ac": "NP_001272323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Melanocortin-2 receptor accessory protein",
                    "type": "recommended"
                },
                {
                    "name": "B27",
                    "type": "synonym"
                },
                {
                    "name": "Fat cell-specific low molecular weight protein",
                    "type": "synonym"
                },
                {
                    "name": "Fat tissue-specific low MW protein",
                    "type": "synonym"
                },
                {
                    "name": "fat cell-specific low molecular weight protein",
                    "type": "synonym"
                },
                {
                    "name": "fat tissue-specific low MW protein",
                    "type": "synonym"
                },
                {
                    "name": "melanocortin-2 receptor accessory protein isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRAP",
                    "type": "recommended"
                },
                {
                    "name": "B27",
                    "type": "synonym"
                },
                {
                    "name": "C21orf61",
                    "type": "synonym"
                },
                {
                    "name": "FALP",
                    "type": "synonym"
                },
                {
                    "name": "GCCD2",
                    "type": "synonym"
                },
                {
                    "name": "MRAP1",
                    "type": "synonym"
                },
                {
                    "name": "MRAP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TCY5-4",
            "evidence": [
                {
                    "id": "607398",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607398"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061242"
}