{
  "id": 10005,
  "label": "adrenal hypoplasia, cytomegalic type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008732",
  "properties": {
    "xrefs": [
      "GARD:0015131",
      "MEDGEN:348509",
      "OMIM:202155",
      "UMLS:C1859977"
    ],
    "synonyms": [
      "adrenal hypoplasia, cytomegalic type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11438,
      "label": "X-linked adrenal hypoplasia congenita",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902,
        4427,
        16074,
        16526,
        16815
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080156",
          "GARD:0000555",
          "MEDGEN:87442",
          "NANDO:1200403",
          "NANDO:2200357",
          "NCIT:C123725",
          "OMIM:300200",
          "Orphanet:95702",
          "SCTID:93235007",
          "UMLS:C0342482"
        ],
        "synonyms": [
          "AHC",
          "adrenal hypoplasia congenita",
          "X-linked adrenal hypoplasia congenita",
          "X-linked congenital adrenal hypoplasia",
          "adrenal hypoplasia, congenital, X-linked recessive",
          "AHC with HHG",
          "AHC with isolated gonadotropin deficiency",
          "Addison disease, X-linked",
          "X-linked AHC",
          "adrenal hypoplasia, congenital",
          "adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism",
          "adrenal hypoplasia, congenital, with precocious puberty",
          "adrenal insufficiency, progressive, and hypogonadotropic hypogonadism",
          "cytomegalic adrenocortical hypoplasia",
          "cytomegalic congenital adrenal hypoplasia",
          "mineralocorticoid deficiency, isolated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism."
      },
      "child_count": 5,
      "reference_id": "MONDO:0010264"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11438,
      "label": "X-linked adrenal hypoplasia congenita"
    }
  ]
}