{
  "id": 13773,
  "label": "autosomal recessive bestrophinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012733",
  "properties": {
    "xrefs": [
      "DOID:0050662",
      "GARD:0010301",
      "MEDGEN:854806",
      "MESH:C567518",
      "OMIM:611809",
      "Orphanet:139455",
      "SCTID:723828008",
      "UMLS:C3888198"
    ],
    "synonyms": [
      "retinopathy, Burgess-Black type",
      "ARB",
      "bestrophinopathy, autosomal recessive"
    ],
    "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 recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5003,
      "label": "macular degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4448",
          "EFO:0009606",
          "MEDGEN:7434",
          "MESH:D008268",
          "NCIT:C123330",
          "SCTID:422338006",
          "UMLS:C0024437"
        ],
        "synonyms": [
          "macula lutea retinal degeneration",
          "macula retinal degeneration",
          "retinal degeneration of macula lutea"
        ],
        "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": "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration."
      },
      "child_count": 9,
      "reference_id": "MONDO:0003004"
    },
    {
      "id": 24634,
      "label": "BEST1-related recessive retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026388"
        ],
        "synonyms": [
          "BEST1-related recessive retinopathy"
        ],
        "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 retinopathy caused by bi-allelic variants in the BEST1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0700239"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5003,
      "label": "macular degeneration"
    },
    {
      "id": 24634,
      "label": "BEST1-related recessive retinopathy"
    }
  ]
}