{
  "id": 19768,
  "label": "vitreoretinal degeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020248",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 3599,
      "label": "vitreous syneresis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6616,
        6639
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11816",
          "ICD9:379.21",
          "MEDGEN:509938",
          "SCTID:60189009",
          "UMLS:C0155366"
        ],
        "synonyms": [
          "vitreous degeneration"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0001377"
    },
    {
      "id": 19766,
      "label": "inherited vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019539",
          "HP:0007773",
          "Orphanet:98668"
        ],
        "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": 10,
      "reference_id": "MONDO:0020246"
    }
  ],
  "children": [
    {
      "id": 9091,
      "label": "Wagner disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007871",
          "MEDGEN:326741",
          "MESH:C536075",
          "MedDRA:10063383",
          "OMIM:143200",
          "Orphanet:898",
          "SCTID:232064001",
          "UMLS:C1840452",
          "icd11.foundation:780893571"
        ],
        "synonyms": [
          "VCAN-related vitreoretinopathy",
          "Wagner disease",
          "Wagner syndrome",
          "dominant hyaloideoretinal dystrophy of Wagner",
          "vitreoretinal degeneration, Wagner type",
          "ERVR",
          "WGN1",
          "WGVRP",
          "Wagner disease (formerly)",
          "Wagner syndrome 1",
          "Wagner syndrome type 1",
          "Wagner vitreoretinal Degeneration",
          "Wagner vitreoretinopathy",
          "erosive vitreoretinopathy",
          "hyaloideoretinal Degeneration of Wagner"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007740"
    },
    {
      "id": 9941,
      "label": "snowflake vitreoretinal degeneration",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111570",
          "GARD:0009706",
          "MEDGEN:395476",
          "MESH:C536677",
          "OMIM:193230",
          "Orphanet:91496",
          "UMLS:C1860405",
          "icd11.foundation:282570444"
        ],
        "synonyms": [
          "snowflake vitreoretinal degeneration",
          "SVD",
          "snowflake degeneration in hereditary vitreoretinal degeneration",
          "vitreoretinal degeneration, snowflake type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008663"
    },
    {
      "id": 11865,
      "label": "X-linked retinoschisis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        6376,
        19000,
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060763",
          "GARD:0004690",
          "MEDGEN:811458",
          "NANDO:1200938",
          "NCIT:C75483",
          "NORD:1864",
          "OMIM:312700",
          "Orphanet:792",
          "SCTID:86923008",
          "UMLS:C3714753",
          "icd11.foundation:2074506458"
        ],
        "synonyms": [
          "X-linked juvenile retinoschisis",
          "X-linked juvenile retinoschisis type 1",
          "X-linked retinoschisis",
          "XLRS",
          "juvenile X-linked retinoschisis",
          "retinoschisis, X-linked",
          "retinoschisis, X-linked recessive",
          "RS",
          "RS1",
          "X-linked juvenile retinoschisis 1",
          "XJR",
          "XLRS1",
          "juvenile retinoschisis",
          "retinoschisis 1, X-linked, juvenile",
          "retinoschisis X-linked",
          "retinoschisis juvenile X chromosome-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010725"
    },
    {
      "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": 19329,
      "label": "exudative vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4419,
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050535",
          "GARD:0001613",
          "ICD9:362.10",
          "MEDGEN:573220",
          "MESH:C580083",
          "OMIMPS:133780",
          "Orphanet:891",
          "SCTID:232063007",
          "UMLS:C0339539"
        ],
        "synonyms": [
          "Criswick-Schepens syndrome",
          "FEVR",
          "familial exudative vitreoretinopathy",
          "exudative vitreoretinopathy, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019516"
    },
    {
      "id": 24025,
      "label": "enhanced S-cone syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090059",
          "GARD:0026125",
          "MEDGEN:341446",
          "MESH:C564835",
          "OMIMPS:268100",
          "UMLS:C1849394"
        ],
        "synonyms": [
          "enhanced S-cone syndrome",
          "ESCS",
          "retinoschisis with early nyctalopia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100288"
    },
    {
      "id": 24177,
      "label": "CAPN5-related vitreoretinopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19768,
        24510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9719",
          "GARD:0017497",
          "ICD9:362.29",
          "MEDGEN:1648542",
          "MedDRA:10057896",
          "OMIM:193235",
          "Orphanet:329211",
          "SCTID:770791000",
          "UMLS:C4721549"
        ],
        "synonyms": [
          "proliferative vitreoretinopathy",
          "ADNIV",
          "CAPN5 vitreoretinopathy",
          "VRNI",
          "autosomal dominant neovascular inflammatory vitreoretinopathy",
          "retinitis proliferans",
          "vitreoretinopathy, neovascular inflammatory",
          "vitreoretinopathy, neovascular inflammatory, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100450"
    },
    {
      "id": 24635,
      "label": "BEST1-related vitreoretinochoroidopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026389"
        ],
        "synonyms": [
          "ADVRIC",
          "BEST1-related vitreoretinochoroidopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any vitreoretinochoroidopathy caused by a heterozygous variant in the BEST1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0700240"
    },
    {
      "id": 24864,
      "label": "Knobloch syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026470",
          "MEDGEN:336594",
          "OMIMPS:267750",
          "UMLS:C1849409",
          "icd11.foundation:1664056510"
        ],
        "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": 2,
      "reference_id": "MONDO:0800166"
    }
  ],
  "roots": [
    {
      "id": 3599,
      "label": "vitreous syneresis"
    },
    {
      "id": 19766,
      "label": "inherited vitreoretinopathy"
    }
  ]
}