{
  "id": 24633,
  "label": "BEST1-related dominant retinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700238",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal 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": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    }
  ],
  "children": [
    {
      "id": 9261,
      "label": "vitelliform macular dystrophy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2888,
        24633
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007931"
    }
  ],
  "roots": [
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    }
  ]
}