{
  "id": 19190,
  "label": "Stickler syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019354",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    },
    {
      "id": 19768,
      "label": "vitreoretinal degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3599,
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005506",
          "HP:0007964",
          "MEDGEN:87480",
          "Orphanet:98670",
          "SCTID:247182006",
          "UMLS:C0344290"
        ],
        "synonyms": [
          "degenerative vitreoretinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0020248"
    }
  ],
  "children": [
    {
      "id": 8567,
      "label": "Stickler syndrome type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19190,
        20997,
        24324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080676",
          "GARD:0005018",
          "MEDGEN:810955",
          "MESH:C537492",
          "NANDO:2201354",
          "NCIT:C168733",
          "OMIM:108300",
          "Orphanet:90653",
          "UMLS:C2020284",
          "icd11.foundation:203625278"
        ],
        "synonyms": [
          "Stickler syndrome type 1",
          "STL1",
          "Stickler syndrome, membranous vitreous type",
          "Stickler syndrome, type 1",
          "Stickler syndrome, type I",
          "Stickler syndrome, vitreous type 1",
          "arthroophthalmopathy, hereditary progressive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0007160"
    },
    {
      "id": 12595,
      "label": "Stickler syndrome type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19190
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011493"
    },
    {
      "id": 14617,
      "label": "Stickler syndrome, type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19190
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018358",
          "MEDGEN:481571",
          "OMIM:614134",
          "UMLS:C3279941"
        ],
        "synonyms": [
          "COL9A1 autosomal recessive Stickler syndrome",
          "autosomal recessive Stickler syndrome caused by mutation in COL9A1",
          "STICKLER syndrome, type IV",
          "STL4"
        ],
        "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 COL9A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013590"
    },
    {
      "id": 14690,
      "label": "Stickler syndrome, type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19190
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013666"
    },
    {
      "id": 22209,
      "label": "Stickler syndrome, type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19190
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025684",
          "MEDGEN:1823980",
          "OMIM:620022",
          "UMLS:C5774207"
        ],
        "synonyms": [
          "STL6",
          "Stickler syndrome, type VI"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031047"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    },
    {
      "id": 19768,
      "label": "vitreoretinal degeneration"
    }
  ]
}