{
  "id": 13595,
  "label": "Noonan syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012547",
  "properties": {
    "xrefs": [
      "DOID:0060582",
      "GARD:0010699",
      "MEDGEN:339908",
      "MESH:C548082",
      "NCIT:C176932",
      "OMIM:610733",
      "UMLS:C1853120"
    ],
    "synonyms": [
      "NS4",
      "Noonan syndrome 4",
      "Noonan syndrome caused by mutation in SOS1",
      "Noonan syndrome type 4",
      "SOS1 Noonan syndrome",
      "SOS1 gene related Noonan syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18913,
      "label": "Noonan syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16088,
        19154,
        19780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3490",
          "GARD:0010955",
          "ICD9:759.89",
          "MEDGEN:18073",
          "MESH:D009634",
          "MedDRA:10029748",
          "NANDO:1200680",
          "NANDO:2200413",
          "NCIT:C34854",
          "NORD:1513",
          "OMIMPS:163950",
          "Orphanet:648",
          "SCTID:205824006",
          "UMLS:C0028326",
          "icd11.foundation:1044395354"
        ],
        "synonyms": [
          "Noonan syndrome",
          "Noonan's syndrome",
          "Noonan-Ehmke syndrome",
          "Ullrich-Noonan syndrome",
          "pseudo-Ullrich-Turner syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects."
      },
      "child_count": 56,
      "reference_id": "MONDO:0018997"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18913,
      "label": "Noonan syndrome"
    }
  ]
}