{
  "id": 20037,
  "label": "Simpson-Golabi-Behmel syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020602",
  "properties": {
    "xrefs": [
      "DOID:0060248",
      "GARD:0025185",
      "MEDGEN:162917",
      "OMIM:312870",
      "UMLS:C0796154"
    ],
    "synonyms": [
      "GPC3 Simpson-Golabi-Behmel syndrome",
      "SGBS1",
      "Simpson dysmorphia syndrome",
      "Simpson-Golabi-Behmel syndrome caused by mutation in GPC3",
      "Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive",
      "bulldog syndrome",
      "Golabi-Rosen syndrome",
      "Sgbs",
      "Simpson-Golabi-Behmel syndrome, type 1",
      "dysplasia gigantism syndrome, X-linked"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene."
  },
  "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": 11871,
      "label": "Simpson-Golabi-Behmel syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007649",
          "ICD9:759.89",
          "MEDGEN:1387611",
          "MESH:C537340",
          "NANDO:2200978",
          "NCIT:C131002",
          "NORD:1717",
          "Orphanet:373",
          "SCTID:439143004",
          "UMLS:C4317043",
          "icd11.foundation:181316558"
        ],
        "synonyms": [
          "DGSX",
          "Golabi-Rosen syndrome",
          "SDYS",
          "SGB syndrome",
          "SGBS",
          "Sara Angers syndrome",
          "Simpson-Golabi-Behmel syndrome",
          "X-linked dysplasia gigantism syndrome",
          "Sgbs",
          "dysplasia gigantism syndrome, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Simpson-Golabi-Behmel syndrome is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk."
      },
      "child_count": 4,
      "reference_id": "MONDO:0010731"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 11871,
      "label": "Simpson-Golabi-Behmel syndrome"
    }
  ]
}