{
  "id": 24626,
  "label": "TSPAN12-related exudative vitreoretinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700231",
  "properties": {
    "xrefs": [
      "GARD:0026380"
    ],
    "synonyms": [
      "TSPAN12-related exudative vitreoretinopathy"
    ],
    "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 caused by variants in the TSPAN12 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 24210,
      "label": "TSPAN12-related vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026242"
        ],
        "synonyms": [
          "TSPAN12 exudative vitreoretinopathy",
          "exudative vitreoretinopathy 5",
          "exudative vitreoretinopathy caused by mutation in TSPAN12"
        ],
        "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 vitreoretinopathy caused by variants in the TSPAN12 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100484"
    }
  ],
  "children": [
    {
      "id": 14254,
      "label": "exudative vitreoretinopathy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24626
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111408",
          "GARD:0015646",
          "MEDGEN:412872",
          "MESH:C567648",
          "OMIM:613310",
          "UMLS:C2750079"
        ],
        "synonyms": [
          "TSPAN12 exudative vitreoretinopathy",
          "exudative vitreoretinopathy 5",
          "exudative vitreoretinopathy caused by mutation in TSPAN12",
          "exudative vitreoretinopathy type 5",
          "EVR5"
        ],
        "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 TSPAN12 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013218"
    }
  ],
  "roots": [
    {
      "id": 19329,
      "label": "exudative vitreoretinopathy"
    },
    {
      "id": 24210,
      "label": "TSPAN12-related vitreoretinopathy"
    }
  ]
}