{
  "id": 22615,
  "label": "exudative vitreoretinopathy 7",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0033123",
  "properties": {
    "xrefs": [
      "DOID:0080264",
      "GARD:0016238",
      "MEDGEN:1626650",
      "OMIM:617572",
      "UMLS:C4539767"
    ],
    "synonyms": [
      "exudative vitreoretinopathy 7",
      "EVR7"
    ],
    "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19329,
      "label": "exudative vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4419,
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050535",
          "GARD:0001613",
          "ICD9:362.10",
          "MEDGEN:573220",
          "MESH:C580083",
          "OMIMPS:133780",
          "Orphanet:891",
          "SCTID:232063007",
          "UMLS:C0339539"
        ],
        "synonyms": [
          "Criswick-Schepens syndrome",
          "FEVR",
          "familial exudative vitreoretinopathy",
          "exudative vitreoretinopathy, familial"
        ],
        "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": "Familial exudative vitreoretinopathy (FEVR) is a rare hereditary vitreoretinal disorder characterized by abnormal or incomplete vascularization of the peripheral retina leading to variable clinical manifestations ranging from no effects to minor anomalies, or even retinal detachment with blindness."
      },
      "child_count": 18,
      "reference_id": "MONDO:0019516"
    },
    {
      "id": 24295,
      "label": "CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100571"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19329,
      "label": "exudative vitreoretinopathy"
    },
    {
      "id": 24295,
      "label": "CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy"
    }
  ]
}