{
  "id": 10006,
  "label": "familial glucocorticoid deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008733",
  "properties": {
    "xrefs": [
      "DOID:0080620",
      "GARD:0002498",
      "MEDGEN:885955",
      "MESH:C565974",
      "NCIT:C120446",
      "OMIMPS:202200",
      "Orphanet:361",
      "SCTID:765326001",
      "UMLS:C4054695",
      "icd11.foundation:861297039"
    ],
    "synonyms": [
      "glucocorticoid deficiency",
      "GCCD"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 16074,
      "label": "chronic primary adrenal insufficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16073
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13774",
          "GARD:0019803",
          "ICD9:255.41",
          "MEDGEN:1324",
          "MESH:D000224",
          "MedDRA:10001130",
          "NANDO:1200411",
          "NANDO:2200359",
          "NANDO:2200360",
          "NCIT:C26689",
          "OMIM:240200",
          "Orphanet:101959",
          "SCTID:373662000",
          "UMLS:C0001403"
        ],
        "synonyms": [
          "CPAI",
          "chronic adrenocorticoid insufficiency",
          "hypoadrenocorticism, familial",
          "primary adrenal insufficiency, chronic",
          "primary hypoadrenalism",
          "Addison disease, chronic adrenal insufficiency",
          "adrenal aplasia",
          "adrenal gland hypofunction",
          "adrenal hypoplasia",
          "autoimmune Addison disease",
          "autoimmune adrenalitis",
          "autoimmune primary adrenal insufficiency",
          "classic Addison's disease",
          "hypoadrenocorticism familial",
          "primary Addison's disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A chronic disorder of the adrenal cortex resulting in the inadequate production of glucocorticoid and mineralocorticoid hormones."
      },
      "child_count": 8,
      "reference_id": "MONDO:0015129"
    }
  ],
  "children": [
    {
      "id": 10008,
      "label": "adrenocortical unresponsiveness to ACTH with postreceptor defect",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10006
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015133",
          "MEDGEN:348507",
          "MESH:C565971",
          "OMIM:202355",
          "UMLS:C1859971"
        ],
        "synonyms": [
          "adrenocortical unresponsiveness to ACTH with postreceptor defect",
          "familial glucocorticoid deficiency due to defect distal to ACTH receptor"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008735"
    },
    {
      "id": 12907,
      "label": "glucocorticoid deficiency 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10006
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061242",
          "GARD:0015412",
          "MEDGEN:891117",
          "MESH:C564577",
          "NANDO:1200409",
          "NCIT:C123728",
          "OMIM:607398",
          "UMLS:C4049714"
        ],
        "synonyms": [
          "MRAP familial glucocorticoid deficiency",
          "familial glucocorticoid deficiency caused by mutation in MRAP",
          "glucocorticoid deficiency 2",
          "glucocorticoid deficiency type 2",
          "GCCD2",
          "familial glucocorticoid deficiency 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011826"
    },
    {
      "id": 13275,
      "label": "glucocorticoid deficiency 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10006
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015450",
          "MEDGEN:332252",
          "MESH:C563776",
          "OMIM:609197",
          "UMLS:C1836621"
        ],
        "synonyms": [
          "GCCD3",
          "glucocorticoid deficiency 3",
          "familial glucocorticoid deficiency 3",
          "glucocorticoid deficiency 2",
          "glucocorticoid deficiency 2, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012214"
    },
    {
      "id": 14886,
      "label": "glucocorticoid deficiency 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10006
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061243",
          "GARD:0015840",
          "MEDGEN:766501",
          "NCIT:C131452",
          "OMIM:614736",
          "UMLS:C3553587"
        ],
        "synonyms": [
          "NNT familial glucocorticoid deficiency",
          "familial glucocorticoid deficiency caused by mutation in NNT",
          "glucocorticoid deficiency 4",
          "glucocorticoid deficiency 4, with or without mineralocorticoid deficiency",
          "glucocorticoid deficiency type 4",
          "GCCD4",
          "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013874"
    },
    {
      "id": 21482,
      "label": "glucocorticoid deficiency 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10006
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080621",
          "GARD:0025418",
          "MEDGEN:885551",
          "NANDO:1200408",
          "OMIM:202200",
          "UMLS:C4049650"
        ],
        "synonyms": [
          "MC2R familial glucocorticoid deficiency",
          "familial glucocorticoid deficiency caused by mutation in MC2R",
          "glucocorticoid deficiency 1",
          "glucocorticoid deficiency, due to ACTH unresponsiveness",
          "ACTH resistance",
          "GCCD1",
          "adrenal unresponsiveness to ACTH",
          "familial glucocorticoid deficiency 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024536"
    },
    {
      "id": 22994,
      "label": "glucocorticoid deficiency 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10006
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061244",
          "GARD:0016257",
          "MEDGEN:1614419",
          "OMIM:617825",
          "UMLS:C4540522"
        ],
        "synonyms": [
          "glucocorticoid deficiency 5",
          "GCCD5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0040502"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16074,
      "label": "chronic primary adrenal insufficiency"
    }
  ]
}