{
  "id": 17654,
  "label": "inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017337",
  "properties": {
    "xrefs": [
      "GARD:0021143",
      "MEDGEN:1643960",
      "Orphanet:289548",
      "SCTID:764960005",
      "UMLS:C4707238"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency is a rare, genetic, chronic, primary adrenal insufficiency disorder, due to partial loss-of-function CYP11A1 mutations, characterized by early-onset adrenal insufficiency without associated abnormal external male genitalia. Patients present with signs of adrenal crisis, including electrolite abnormalities, severe weakness, recurrent vomiting and seizures. Ultrasound reveals absent (or very small) adrenal glands."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 16074,
      "label": "chronic primary adrenal insufficiency"
    }
  ]
}