{
  "id": 13445,
  "label": "multiple synostoses syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012394",
  "properties": {
    "xrefs": [
      "DOID:0081318",
      "GARD:0009916",
      "MEDGEN:331348",
      "MESH:C537380",
      "OMIM:610017",
      "UMLS:C1832708"
    ],
    "synonyms": [
      "GDF5 multiple synostoses syndrome",
      "multiple synostoses syndrome 2",
      "multiple synostoses syndrome caused by mutation in GDF5",
      "multiple synostoses syndrome type 2",
      "SYNS2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18123,
      "label": "multiple synostoses syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632,
        4370,
        5714,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050794",
          "GARD:0003836",
          "MEDGEN:511579",
          "OMIMPS:186500",
          "Orphanet:3237",
          "UMLS:C0175700",
          "icd11.foundation:248917534"
        ],
        "synonyms": [
          "WL syndrome",
          "deafness-Hermann type symphalangism syndrome",
          "facio-audio-symphalangism",
          "symphalangism-brachydactyly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017923"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18123,
      "label": "multiple synostoses syndrome"
    }
  ]
}