{
  "id": 14548,
  "label": "pituitary hormone deficiency, combined, 6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013518",
  "properties": {
    "xrefs": [
      "DOID:0061022",
      "GARD:0016520",
      "MEDGEN:462790",
      "OMIM:613986",
      "UMLS:C3151440"
    ],
    "synonyms": [
      "OTX2 combined pituitary hormone deficiencies, genetic form",
      "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2",
      "pituitary hormone deficiency, combined, 6",
      "pituitary hormone deficiency, combined, type 6",
      "CPHD6"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 14137,
      "label": "combined pituitary hormone deficiencies, genetic form",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        6876,
        16526,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010602",
          "MEDGEN:906592",
          "OMIMPS:613038",
          "Orphanet:95494",
          "SCTID:718182008",
          "UMLS:C4273747"
        ],
        "synonyms": [
          "familial congenital hypopituitarism",
          "genetic hypopituitarism",
          "multiple pituitary hormone deficiencies, genetic forms",
          "pituitary hormone deficiency, combined",
          "combined pituitary hormone deficiencies, genetic forms",
          "familial hypopituitarism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "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. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy."
      },
      "child_count": 36,
      "reference_id": "MONDO:0013099"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 14137,
      "label": "combined pituitary hormone deficiencies, genetic form"
    }
  ]
}