{
  "id": 11835,
  "label": "Norrie disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010691",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025155",
          "ICD9:743.56",
          "MEDGEN:757909",
          "Orphanet:98669",
          "SCTID:449866003",
          "UMLS:C3266134",
          "icd11.foundation:44221751"
        ],
        "synonyms": [
          "vitreoretinal dysplasia"
        ],
        "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": 18,
      "reference_id": "MONDO:0020247"
    },
    {
      "id": 24750,
      "label": "NDP-related vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19766
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700377"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia"
    },
    {
      "id": 24750,
      "label": "NDP-related vitreoretinopathy"
    }
  ]
}