{
  "id": 21482,
  "label": "glucocorticoid deficiency 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024536",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10006,
      "label": "familial glucocorticoid deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        16074
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0008733"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10006,
      "label": "familial glucocorticoid deficiency"
    }
  ]
}