{
  "id": 21506,
  "label": "vitelliform macular dystrophy 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0024561",
  "properties": {
    "xrefs": [
      "GARD:0025431",
      "OMIM:608161"
    ],
    "synonyms": [
      "PRPH2 vitelliform macular dystrophy",
      "vitelliform macular dystrophy caused by mutation in PRPH2",
      "VMD3",
      "foveomacular dystrophy, adult-onset",
      "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization",
      "macular dystrophy, vitelliform, 3",
      "vitelliform macular dystrophy, 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": "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 29285,
      "label": "PRPH2-related retinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19000
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027257"
        ],
        "synonyms": [
          "PRPH2-related 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 variant or variants in the PRPH2 gene."
      },
      "child_count": 7,
      "reference_id": "MONDO:1040055"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 13050,
      "label": "adult-onset foveomacular vitelliform dystrophy"
    },
    {
      "id": 29285,
      "label": "PRPH2-related retinopathy"
    }
  ]
}