{
  "id": 24177,
  "label": "CAPN5-related vitreoretinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100450",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 24510,
      "label": "proliferative vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:66167",
          "MESH:D018630",
          "SCTID:232016005",
          "UMLS:C0242852",
          "icd11.foundation:1908429642"
        ],
        "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": "Vitreoretinal membrane shrinkage or contraction secondary to the proliferation of primarily retinal pigment epithelial cells and glial cells, particularly fibrous astrocytes, followed by membrane formation. The formation of fibrillar collagen and cellular proliferation appear to be the basis for the contractile properties of the epiretinal and vitreous membranes."
      },
      "child_count": 1,
      "reference_id": "MONDO:0700115"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19768,
      "label": "vitreoretinal degeneration"
    },
    {
      "id": 24510,
      "label": "proliferative vitreoretinopathy"
    }
  ]
}