{
  "id": 19562,
  "label": "non-acquired pituitary hormone deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019824",
  "properties": {
    "xrefs": [
      "GARD:0019272",
      "MEDGEN:1842784",
      "Orphanet:95488",
      "UMLS:C5681572"
    ],
    "categories": [
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 16072,
      "label": "pituitary deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019801",
          "Orphanet:101957",
          "icd11.foundation:292840069"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0015127"
    },
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020012",
          "MEDGEN:1842942",
          "MESH:D006130",
          "Orphanet:156643",
          "UMLS:C5680637"
        ],
        "synonyms": [
          "genetic endocrine growth disease",
          "growth disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0015514"
    }
  ],
  "children": [
    {
      "id": 11322,
      "label": "isolated thyroid-stimulating hormone deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2710,
        16927,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070123",
          "GARD:0010129",
          "MEDGEN:78786",
          "OMIM:275100",
          "Orphanet:90674",
          "UMLS:C0271789"
        ],
        "synonyms": [
          "CHNG4",
          "hypothyroidism, congenital, nongoitrous 4",
          "hypothyroidism, congenital, nongoitrous, type 4",
          "isolated TSH deficiency",
          "isolated thyrotropin deficiency",
          "TSH deficiency",
          "congenital nongoitrous hypothyroidism 4",
          "hypothyroidism, congenital, nongoitrous, 4",
          "pituitary cretinism",
          "thyroid-stimulating hormone deficiency",
          "thyroid-stimulating hormone, deficiency of",
          "thyrotropin deficiency, isolated",
          "thyrotropin, biologically inactive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010139"
    },
    {
      "id": 15405,
      "label": "short stature due to GHSR deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017436",
          "MEDGEN:1857733",
          "OMIM:615925",
          "Orphanet:314811",
          "SCTID:766817004",
          "UMLS:C5887324"
        ],
        "synonyms": [
          "ghrelin receptor deficiency",
          "short stature due to growth hormone secretagogue receptor deficiency",
          "GHDP",
          "growth hormone deficiency, isolated partial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014403"
    },
    {
      "id": 16526,
      "label": "congenital hypogonadotropic hypogonadism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18569,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020135",
          "MEDGEN:859097",
          "NANDO:1200383",
          "NCIT:C120162",
          "Orphanet:174590",
          "SCTID:722944006",
          "UMLS:C3899503",
          "icd11.foundation:1752075408"
        ],
        "categories": [
          {
            "ref": "MONDO:0005039",
            "name": "reproductive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH)."
      },
      "child_count": 50,
      "reference_id": "MONDO:0015770"
    },
    {
      "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"
    },
    {
      "id": 19564,
      "label": "pituitary stalk interruption syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19562
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013209",
          "MEDGEN:883774",
          "NCIT:C121150",
          "Orphanet:95496",
          "SCTID:715727009",
          "UMLS:C4053775",
          "icd11.foundation:1474283222"
        ],
        "synonyms": [
          "PSIS",
          "ectopic neurohypophysis",
          "hypoplastic anterior pituitary, missing stalk, and ectopic posterior pituitary"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019828"
    }
  ],
  "roots": [
    {
      "id": 16072,
      "label": "pituitary deficiency"
    },
    {
      "id": 16330,
      "label": "hereditary endocrine growth disease"
    }
  ]
}