{
  "id": 12525,
  "label": "short stature due to partial GHR deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011420",
  "properties": {
    "xrefs": [
      "GARD:0017435",
      "MEDGEN:346958",
      "MESH:C565805",
      "OMIM:604271",
      "Orphanet:314802",
      "UMLS:C1858656"
    ],
    "synonyms": [
      "short stature due to partial growth hormone receptor deficiency",
      "GHIP",
      "Growth hormone deficiency, isolated, partial",
      "Growth hormone, insensitivity to, partial",
      "growth hormone insensitivity, partial",
      "increased responsiveness to Growth hormone"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8345,
      "label": "pituitary dwarfism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001109",
          "ICD9:253.3",
          "MEDGEN:8506",
          "MESH:D004393",
          "MedDRA:10035083",
          "SCTID:367460001",
          "UMLS:C0013338"
        ],
        "categories": [
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Proportionately decreased bodily growth due to failure of the pituitary gland to produce an adequate supply of growth hormone."
      },
      "child_count": 2,
      "reference_id": "MONDO:0006909"
    },
    {
      "id": 16603,
      "label": "growth hormone insensitivity syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16330
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003924",
          "MEDGEN:1384226",
          "NANDO:2100114",
          "NANDO:2200321",
          "NCIT:C129867",
          "Orphanet:181393",
          "UMLS:C4318479"
        ],
        "synonyms": [
          "GHIS",
          "Growth hormone insensitivity syndromes",
          "short stature due to a defect in growth hormone receptor or post-receptor pathway"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015892"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8345,
      "label": "pituitary dwarfism"
    },
    {
      "id": 16603,
      "label": "growth hormone insensitivity syndrome"
    }
  ]
}