{
  "id": 13176,
  "label": "growth delay due to insulin-like growth factor type 1 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012110",
  "properties": {
    "xrefs": [
      "GARD:0010627",
      "MEDGEN:373337",
      "MESH:C563867",
      "OMIM:608747",
      "Orphanet:73272",
      "SCTID:724385009",
      "UMLS:C1837475"
    ],
    "synonyms": [
      "IGF-1 deficiency",
      "growth delay-deafness- intellectual disability syndrome",
      "growth retardation with deafness and mental retardation due to IGF1 deficiency",
      "primary insulin-like growth factor deficiency",
      "IGF1 deficiency",
      "growth retardation with sensorineural deafness and intellectual disability",
      "growth retardation with sensorineural deafness and mental retardation",
      "insulin-like growth Factor 1 deficiency",
      "insulin-like growth factor I deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Growth delay due to insulin-like growth factor I deficiency is characterized by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "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": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 16603,
      "label": "growth hormone insensitivity syndrome"
    }
  ]
}