{
  "id": 9261,
  "label": "vitelliform macular dystrophy 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007931",
  "properties": {
    "xrefs": [
      "GARD:0000182",
      "MEDGEN:411553",
      "NORD:853",
      "OMIM:153700",
      "Orphanet:1243",
      "SCTID:763387005",
      "UMLS:C2745945"
    ],
    "synonyms": [
      "BEST1 retinopathy",
      "BMD",
      "BVMD",
      "Best Vitelliform Macular Dystrophy",
      "Best disease",
      "Best macular dystrophy",
      "early-onset vitelliform macular dystrophy",
      "juvenile-onset vitelliform macular dystrophy",
      "macular degeneration, polymorphic vitelline",
      "macular dystrophy, vitelliform, type 2",
      "polymorphic vitelline macular degeneration",
      "vitelliform macular dystrophy type 2",
      "vitelliform macular dystrophy, early-onset",
      "vitelliform macular dystrophy, juvenile-onset",
      "vitelliform macular dystrophy, type 2",
      "Best vitelliform macular dystrophy, multifocal",
      "VMD2",
      "macular Degeneration, polymorphic vitelline",
      "macular dystrophy, vitelliform, 2"
    ],
    "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": "Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2888,
      "label": "vitelliform macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5003,
        19765
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050661",
          "GARD:0022762",
          "MEDGEN:137920",
          "MESH:D057826",
          "NANDO:1200932",
          "NCIT:C118788",
          "OMIMPS:153840",
          "SCTID:90036004",
          "UMLS:C0339510"
        ],
        "synonyms": [
          "macular dystrophy, vitelliform",
          "vitelliform macular dystrophy"
        ],
        "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 rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision."
      },
      "child_count": 4,
      "reference_id": "MONDO:0000390"
    },
    {
      "id": 24633,
      "label": "BEST1-related dominant retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026387"
        ],
        "synonyms": [
          "BEST1-related dominant 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 a heterozygous variant in the BEST1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0700238"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2888,
      "label": "vitelliform macular dystrophy"
    },
    {
      "id": 24633,
      "label": "BEST1-related dominant retinopathy"
    }
  ]
}