{
  "id": 8567,
  "label": "Stickler syndrome type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007160",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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"
    },
    {
      "id": 20997,
      "label": "type 2 collagenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        6394,
        18360,
        21247
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019186",
          "HGNC:2200",
          "MEDGEN:419326",
          "MESH:C535964",
          "NANDO:2201016",
          "Orphanet:93421",
          "UMLS:C2931073"
        ],
        "synonyms": [
          "COL2A1 disease or disorder",
          "collagenopathy type 2 alpha 1",
          "disease or disorder caused by mutation in COL2A1",
          "COL2A1",
          "cartilage collagen",
          "collagen II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene."
      },
      "child_count": 56,
      "reference_id": "MONDO:0022800"
    },
    {
      "id": 24324,
      "label": "COL2A1-related spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206,
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027287"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes."
      },
      "child_count": 12,
      "reference_id": "MONDO:0100602"
    }
  ],
  "children": [
    {
      "id": 13344,
      "label": "Stickler syndrome, type I, nonsyndromic ocular",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8567
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015461",
          "MEDGEN:322820",
          "MESH:C563709",
          "OMIM:609508",
          "UMLS:C1836080"
        ],
        "synonyms": [
          "Stickler syndrome, type i, nonsyndromic ocular",
          "Stickler syndrome, atypical",
          "Stickler syndrome, type I, predominantly ocular",
          "rhegmatogenous retinal detachment, autosomal dominant"
        ],
        "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": 0,
      "reference_id": "MONDO:0012287"
    }
  ],
  "roots": [
    {
      "id": 19190,
      "label": "Stickler syndrome"
    },
    {
      "id": 20997,
      "label": "type 2 collagenopathy"
    },
    {
      "id": 24324,
      "label": "COL2A1-related spondyloepiphyseal dysplasia"
    }
  ]
}