{
  "id": 12595,
  "label": "Stickler syndrome type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011493",
  "properties": {
    "xrefs": [
      "DOID:0080675",
      "GARD:0005020",
      "MEDGEN:347615",
      "MESH:C537493",
      "NCIT:C74985",
      "OMIM:604841",
      "Orphanet:90654",
      "UMLS:C1858084",
      "icd11.foundation:1652024415"
    ],
    "synonyms": [
      "COL11A1 Stickler syndrome",
      "Stickler syndrome caused by mutation in COL11A1",
      "Stickler syndrome type II",
      "STICKLER syndrome, type II",
      "STL 2",
      "STL2",
      "Stickler syndrome, beaded vitreous type",
      "Stickler syndrome, type 2",
      "Stickler syndrome, vitreous type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19190,
      "label": "Stickler syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        17206,
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080046",
          "GARD:0010782",
          "ICD9:759.89",
          "MEDGEN:120521",
          "MedDRA:10063402",
          "NCIT:C74984",
          "NORD:1739",
          "OMIMPS:108300",
          "Orphanet:828",
          "SCTID:78675000",
          "UMLS:C0265253",
          "icd11.foundation:246271691"
        ],
        "synonyms": [
          "Stickler syndrome",
          "hereditary progressive arthroophthalmopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0019354"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19190,
      "label": "Stickler syndrome"
    }
  ]
}