{
  "id": 9941,
  "label": "snowflake vitreoretinal degeneration",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008663",
  "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."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19768,
      "label": "vitreoretinal degeneration"
    }
  ]
}