{
  "id": 13050,
  "label": "adult-onset foveomacular vitelliform dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011979",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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"
    }
  ],
  "children": [
    {
      "id": 9263,
      "label": "vitelliform macular dystrophy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13050
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010120",
          "MEDGEN:1636950",
          "MESH:C537832",
          "OMIM:153840",
          "UMLS:C4551953"
        ],
        "synonyms": [
          "VMD1",
          "macular dystrophy, atypical vitelliform",
          "macular dystrophy, vitelliform, 1",
          "vitelliform macular dystrophy, atypical"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007933"
    },
    {
      "id": 15507,
      "label": "vitelliform macular dystrophy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13050,
        29267
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016064",
          "MEDGEN:863779",
          "OMIM:616151",
          "UMLS:C4015342"
        ],
        "synonyms": [
          "IMPG1 vitelliform macular dystrophy",
          "macular dystrophy, vitelliform, 4",
          "macular dystrophy, vitelliform, type 4",
          "vitelliform macular dystrophy caused by mutation in IMPG1",
          "VMD4"
        ],
        "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 IMPG1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014508"
    },
    {
      "id": 15508,
      "label": "vitelliform macular dystrophy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13050,
        24637
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016065",
          "MEDGEN:863780",
          "OMIM:616152",
          "UMLS:C4015343"
        ],
        "synonyms": [
          "IMPG2 vitelliform macular dystrophy",
          "macular dystrophy, vitelliform, 5",
          "macular dystrophy, vitelliform, type 5",
          "vitelliform macular dystrophy caused by mutation in IMPG2",
          "VMD5"
        ],
        "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 IMPG2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014509"
    },
    {
      "id": 21506,
      "label": "vitelliform macular dystrophy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13050,
        29285
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024561"
    }
  ],
  "roots": [
    {
      "id": 2888,
      "label": "vitelliform macular dystrophy"
    }
  ]
}