{
  "id": 10339,
  "label": "non-acquired combined pituitary hormone deficiency with spine abnormalities",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009091",
  "properties": {
    "xrefs": [
      "DOID:0061021",
      "GARD:0010603",
      "MEDGEN:483740",
      "MESH:C536710",
      "OMIM:221750",
      "Orphanet:231720",
      "UMLS:C3489787"
    ],
    "synonyms": [
      "non-acquired combined pituitary hormone deficiency with spine abnormalities",
      "non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome",
      "pituitary hormone deficiency, combined, type 3",
      "CPHD3",
      "Deafness, sensorineural with pituitary dwarfism",
      "Pituitary hormone deficiency, combined with rigid cervical spine",
      "Winkelmann-Bethge-Pfeiffer syndrome",
      "deafness, sensorineural, with pituitary dwarfism",
      "non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome",
      "pituitary hormone deficiency, combined, 3",
      "pituitary hormone deficiency, combined, with rigid cervical spine"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated."
  },
  "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"
    },
    {
      "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": 14137,
      "label": "combined pituitary hormone deficiencies, genetic form"
    },
    {
      "id": 18727,
      "label": "non-acquired combined pituitary hormone deficiency"
    }
  ]
}