{
  "id": 24750,
  "label": "NDP-related vitreoretinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700377",
  "properties": {
    "xrefs": [
      "GARD:0028032"
    ],
    "synonyms": [
      "NDP-related vitreoretinopathy including Norrie syndrome"
    ],
    "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 vitreoretinopathy caused by a variant in the NDP gene, including cases diagnosed as Norrie disease or X-linked exudative vitreoretinopathy 2."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19766,
      "label": "inherited vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019539",
          "HP:0007773",
          "Orphanet:98668"
        ],
        "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": 10,
      "reference_id": "MONDO:0020246"
    }
  ],
  "children": [
    {
      "id": 11741,
      "label": "exudative vitreoretinopathy 2, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        19329,
        24750
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111413",
          "GARD:0015292",
          "MEDGEN:337030",
          "MESH:C564428",
          "OMIM:305390",
          "UMLS:C1844579"
        ],
        "synonyms": [
          "NDP exudative vitreoretinopathy",
          "exudative vitreoretinopathy 2, X-linked",
          "exudative vitreoretinopathy 2, X-linked, X-linked recessive, X-linked dominant",
          "exudative vitreoretinopathy caused by mutation in NDP",
          "EVR2",
          "Evrx",
          "Fevr, X-linked",
          "exudative vitreoretinopathy, familial, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any exudative vitreoretinopathy in which the cause of the disease is a mutation in the NDP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010588"
    },
    {
      "id": 11835,
      "label": "Norrie disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19767,
        24750
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060844",
          "GARD:0007224",
          "ICD9:743.8",
          "MEDGEN:75615",
          "MESH:C537849",
          "MedDRA:10069760",
          "NCIT:C118634",
          "NORD:1514",
          "OMIM:310600",
          "Orphanet:649",
          "SCTID:15228007",
          "UMLS:C0266526",
          "icd11.foundation:676214590"
        ],
        "synonyms": [
          "Episkopi blindness",
          "Norrie disease",
          "Norrie disease, X-linked recessive",
          "Norrie-Warburg disease",
          "atrophia bulborum hereditaria",
          "Anderson-Warburg syndrome",
          "ND",
          "NDP",
          "Norrie syndrome",
          "Norrie-Warburg syndrome",
          "fetal iritis syndrome",
          "foetal iritis syndrome",
          "nd",
          "pseudoglioma"
        ],
        "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 X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010691"
    }
  ],
  "roots": [
    {
      "id": 19766,
      "label": "inherited vitreoretinopathy"
    }
  ]
}