{
  "id": 9923,
  "label": "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008641",
  "properties": {
    "xrefs": [
      "DOID:0111567",
      "GARD:0001217",
      "MEDGEN:348124",
      "MESH:C566007",
      "NORD:1910",
      "OMIM:192315",
      "Orphanet:247691",
      "SCTID:720854004",
      "SCTID:721141004",
      "UMLS:C1860518",
      "icd11.foundation:554838792"
    ],
    "synonyms": [
      "RVCL",
      "RVCL-S",
      "hereditary vascular retinopathy",
      "retinal vasculopathy and cerebral leukoencephalopathy",
      "vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations",
      "ADRVCL",
      "CRV",
      "HVR",
      "autosomal dominant retinal vasculopathy with cerebral leukodystrophy",
      "cerebroretinal vasculopathy",
      "cerebroretinal vasculopathy, hereditary",
      "grand Kaine fulling syndrome",
      "grand-Kaine-fulling syndrome",
      "retinal vasculopathy with cerebral leukodystrophy",
      "retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena",
      "vasculopathy, retinal, with cerebral leukodystrophy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "An inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS); all exhibiting progressive visual impairment as well as variable cerebral dysfunction."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 19000,
      "label": "inherited retinal dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6377,
        21402,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8500",
          "DOID:8501",
          "GARD:0018916",
          "HP:0000556",
          "ICD10CM:H35.5",
          "ICD9:362.7",
          "ICD9:362.70",
          "ICD9:362.72",
          "ICD9:362.75",
          "MEDGEN:208903",
          "MESH:D058499",
          "MedDRA:10038857",
          "NCIT:C35194",
          "NCIT:C35625",
          "Orphanet:71862",
          "SCTID:314407005",
          "SCTID:41799005",
          "UMLS:C0854723"
        ],
        "synonyms": [
          "fundus dystrophy",
          "familial retinal dystrophy",
          "genetic retinal dystrophy",
          "hereditary retinal degeneration",
          "hereditary retinal dystrophy",
          "inherited retinal dystrophy",
          "retinal dystrophy"
        ],
        "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": "An instance of retinal degeneration that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 315,
      "reference_id": "MONDO:0019118"
    },
    {
      "id": 24651,
      "label": "TREX1-related type 1 interferonopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21247,
        24659
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026399"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Any type 1 interferonopathies in which the cause of the disease is a variation in the TREX1 gene. Individuals with variants in TREX1 can present with a variety of phenotypes, including Aicardi-Goutieres syndrome, chilblain lupus, or retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations."
      },
      "child_count": 6,
      "reference_id": "MONDO:0700256"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24659,
        25593
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021986",
          "MEDGEN:1843010",
          "Orphanet:481671",
          "UMLS:C5681250"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A type 1 interferonopathy that occurs during childhood."
      },
      "child_count": 24,
      "reference_id": "MONDO:0957408"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4419,
      "label": "retinal vascular disorder"
    },
    {
      "id": 19000,
      "label": "inherited retinal dystrophy"
    },
    {
      "id": 24651,
      "label": "TREX1-related type 1 interferonopathy"
    },
    {
      "id": 25666,
      "label": "type 1 interferonopathy of childhood"
    }
  ]
}