{
  "id": 19329,
  "label": "exudative vitreoretinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019516",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 4419,
      "label": "retinal vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6979,
        7202,
        23165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2462",
          "ICD9:362.13",
          "MEDGEN:57824",
          "NCIT:C35170",
          "SCTID:57534004",
          "UMLS:C0154833"
        ],
        "synonyms": [
          "retinal vascular disorder"
        ],
        "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": "Retinal damage resulting from diminished blood flow/oxygenation due to abnormalities of the retinal vessels. Causes include hypertension, diabetes, thrombosis, embolism, and hemorrhage."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002311"
    },
    {
      "id": 19768,
      "label": "vitreoretinal degeneration",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3599,
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005506",
          "HP:0007964",
          "MEDGEN:87480",
          "Orphanet:98670",
          "SCTID:247182006",
          "UMLS:C0344290"
        ],
        "synonyms": [
          "degenerative vitreoretinopathy"
        ],
        "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:0020248"
    }
  ],
  "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": 12688,
      "label": "exudative vitreoretinopathy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111409",
          "GARD:0015386",
          "MEDGEN:344184",
          "MESH:C565297",
          "OMIM:605750",
          "UMLS:C1854002"
        ],
        "synonyms": [
          "EVR3",
          "exudative vitreoretinopathy 3"
        ],
        "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:0011592"
    },
    {
      "id": 15648,
      "label": "exudative vitreoretinopathy 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111410",
          "GARD:0016118",
          "MEDGEN:902559",
          "OMIM:616468",
          "UMLS:C4225316"
        ],
        "synonyms": [
          "ZNF408 exudative vitreoretinopathy",
          "exudative vitreoretinopathy 6",
          "exudative vitreoretinopathy caused by mutation in ZNF408",
          "exudative vitreoretinopathy type 6",
          "EVR6"
        ],
        "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 ZNF408 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014652"
    },
    {
      "id": 22615,
      "label": "exudative vitreoretinopathy 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19329,
        24295
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033123"
    },
    {
      "id": 24623,
      "label": "LRP5-related exudative vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19329
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700228"
    },
    {
      "id": 24626,
      "label": "TSPAN12-related exudative vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19329,
        24210
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700231"
    },
    {
      "id": 26317,
      "label": "exudative vitreoretinopathy 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028119",
          "MEDGEN:1876521",
          "OMIM:621268",
          "UMLS:C6012752"
        ],
        "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:0979571"
    },
    {
      "id": 29261,
      "label": "dyneinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        19329,
        24226
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027115"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "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": "A spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. While not absolute, there appear to be genotype-phenotype correlations based on the location of the variant. Patients with variants in the stem domain of DYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. Patients with variants in the motor domain predominantly present with neurodevelopmental presentations including intellectual disability, seizures, malformations of cortical development (abnormal brain MRI findings such as pachygyria, heterotopias, enlarged ventricles, hypoplasia of CC, brain stem, cerebellum), autism, and less frequently, neuromuscular phenotypes."
      },
      "child_count": 6,
      "reference_id": "MONDO:1040031"
    },
    {
      "id": 29271,
      "label": "FZD4-related exudative vitreoretinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19329
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027243"
        ],
        "synonyms": [
          "FZD4-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 a variant in the FZD4 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:1040041"
    }
  ],
  "roots": [
    {
      "id": 4419,
      "label": "retinal vascular disorder"
    },
    {
      "id": 19768,
      "label": "vitreoretinal degeneration"
    }
  ]
}