{
  "id": 24623,
  "label": "LRP5-related exudative vitreoretinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700228",
  "properties": {
    "xrefs": [
      "GARD:0026378"
    ],
    "synonyms": [
      "LRP5-related exudative vitreoretinopathy with or without osteoporosis"
    ],
    "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 with or without osteoporosis caused by variants in the LRP5 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    }
  ],
  "children": [
    {
      "id": 11027,
      "label": "osteoporosis-pseudoglioma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        19767,
        24623,
        24803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060849",
          "GARD:0004160",
          "MEDGEN:98480",
          "MESH:C536063",
          "MedDRA:10052452",
          "NCIT:C130998",
          "OMIM:259770",
          "Orphanet:2788",
          "UMLS:C0432252"
        ],
        "synonyms": [
          "OPPG",
          "osteoporosis-pseudoglioma syndrome",
          "Ops",
          "osteogenesis imperfecta ocular form",
          "osteogenesis imperfecta, ocular form",
          "osteoporosis pseudoglioma syndrome",
          "pseudoglioma with bone fragility"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009820"
    },
    {
      "id": 12273,
      "label": "exudative vitreoretinopathy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24623
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111411",
          "GARD:0015337",
          "MEDGEN:356171",
          "MESH:C566619",
          "OMIM:601813",
          "UMLS:C1866176"
        ],
        "synonyms": [
          "exudative vitreoretinopathy 4",
          "exudative vitreoretinopathy type 4",
          "EVR4"
        ],
        "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011151"
    }
  ],
  "roots": [
    {
      "id": 19329,
      "label": "exudative vitreoretinopathy"
    }
  ]
}