{
  "id": 14690,
  "label": "Stickler syndrome, type 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013666",
  "properties": {
    "xrefs": [
      "GARD:0018359",
      "MEDGEN:481972",
      "OMIM:614284",
      "UMLS:C3280342"
    ],
    "synonyms": [
      "COL9A2 autosomal recessive Stickler syndrome",
      "autosomal recessive Stickler syndrome caused by mutation in COL9A2",
      "STICKLER syndrome, type V",
      "STL5"
    ],
    "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": "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene."
  },
  "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"
    }
  ]
}