{
  "id": 11083,
  "label": "short stature-pituitary and cerebellar defects-small sella turcica syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009880",
  "properties": {
    "xrefs": [
      "DOID:0061017",
      "GARD:0010604",
      "MEDGEN:394816",
      "MESH:C567492",
      "OMIM:262700",
      "Orphanet:85442",
      "UMLS:C2678408"
    ],
    "synonyms": [
      "pituitary hormone deficiency, combined, type 4",
      "CPHD4",
      "pituitary hormone deficiency, combined 4",
      "pituitary hormone deficiency, combined with or without cerebellar defects",
      "pituitary hormone deficiency, combined, 4",
      "pituitary hormone deficiency, combined, with or without cerebellar defects",
      "short stature, pituitary and cerebellar defects and small sella turcica",
      "short stature, pituitary and cerebellar defects, and small sella turcica"
    ],
    "categories": [
      {
        "ref": "MONDO:0005039",
        "name": "reproductive system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25)."
  },
  "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"
    }
  ]
}