{
  "id": 24635,
  "label": "BEST1-related vitreoretinochoroidopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700240",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": [
    {
      "id": 9940,
      "label": "autosomal dominant vitreoretinochoroidopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24635
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111569",
          "GARD:0005507",
          "MEDGEN:854768",
          "MESH:C536352",
          "OMIM:193220",
          "Orphanet:3086",
          "SCTID:711162004",
          "UMLS:C3888099",
          "icd11.foundation:96951767"
        ],
        "synonyms": [
          "ADVIRC",
          "VRCP",
          "VRCP autosomal dominant",
          "microcornea, Rod-cone dystrophy, cataract, and posterior staphyloma",
          "vitreoretinochoroidopathy",
          "vitreoretinochoroidopathy dominant",
          "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract",
          "vitreoretinochoroidopathy, autosomal dominant",
          "vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos"
        ],
        "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": "Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a genetic vitreous-retinal disease characterized by ocular developmental anomalies such as microcornea, a shallow anterior chamber, glaucoma and cataract. Abnormal chorioretinal pigmentation is present, usually lying between the vortex veins and the ora serrata for 360 degrees."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008662"
    }
  ],
  "roots": [
    {
      "id": 19768,
      "label": "vitreoretinal degeneration"
    }
  ]
}