{
  "id": 17714,
  "label": "deficiency in anterior pituitary function - variable immunodeficiency syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017407",
  "properties": {
    "xrefs": [
      "GARD:0017353",
      "MEDGEN:1666981",
      "Orphanet:293978",
      "UMLS:C4751122"
    ],
    "synonyms": [
      "David syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 15265,
      "label": "immunodeficiency, common variable, 10",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16333
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081152",
          "GARD:0015990",
          "MEDGEN:816321",
          "OMIM:615577",
          "UMLS:C3809991"
        ],
        "synonyms": [
          "NFKB2 common variable immunodeficiency",
          "common variable immunodeficiency caused by mutation in NFKB2",
          "immunodeficiency, common variable, 10",
          "immunodeficiency, common variable, type 10",
          "CVID10",
          "Deficit in anterior pituitary function and variable immunodeficiency",
          "immunodeficiency, common variable, with central adrenal insufficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0014260"
    },
    {
      "id": 18727,
      "label": "non-acquired combined pituitary hormone deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002252",
          "MEDGEN:1842250",
          "NANDO:2200312",
          "Orphanet:467",
          "UMLS:C5680091"
        ],
        "synonyms": [
          "congenital combined pituitary hormone deficiency",
          "congenital hypopituitarism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis."
      },
      "child_count": 7,
      "reference_id": "MONDO:0018762"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 15265,
      "label": "immunodeficiency, common variable, 10"
    },
    {
      "id": 18727,
      "label": "non-acquired combined pituitary hormone deficiency"
    }
  ]
}