{
  "id": 2888,
  "label": "vitelliform macular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000390",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 19765,
      "label": "hereditary macular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025154",
          "MEDGEN:137919",
          "NANDO:1200931",
          "NCIT:C140264",
          "Orphanet:98664",
          "SCTID:276436007",
          "UMLS:C0339508"
        ],
        "synonyms": [
          "genetic macular dystrophy",
          "genetic macular dystrophy (disease)"
        ],
        "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": "Macular dystrophy that is related to a change in a gene."
      },
      "child_count": 17,
      "reference_id": "MONDO:0020242"
    }
  ],
  "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"
    },
    {
      "id": 13050,
      "label": "adult-onset foveomacular vitelliform dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2888
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010909",
          "MEDGEN:334280",
          "Orphanet:99000",
          "SCTID:232049001",
          "UMLS:C1842914",
          "icd11.foundation:558806410"
        ],
        "synonyms": [
          "AOFMD",
          "AVMD",
          "Gass disease",
          "adult-onset foveomacular dystrophy",
          "adult-onset foveomacular dystrophy with choroidal neovascularization",
          "adult-onset vitelliform macular dystrophy",
          "macular dystrophy, vitelliform, type 3",
          "pseudo-Best disease",
          "pseudo-vitelliform macular dystrophy",
          "VMD3",
          "foveomacular dystrophy, adult-onset, with choroidal neovascularization",
          "foveomacular dystrophy, adult-onset; AOFMD",
          "macular dystrophy, vitelliform, 3",
          "macular dystrophy, vitelliform, adult-onset"
        ],
        "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": "Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011979"
    }
  ],
  "roots": [
    {
      "id": 5003,
      "label": "macular degeneration"
    },
    {
      "id": 19765,
      "label": "hereditary macular dystrophy"
    }
  ]
}