{
  "id": 9595,
  "label": "brain small vessel disease 1 with or without ocular anomalies",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008289",
  "properties": {
    "xrefs": [
      "DOID:0090125",
      "GARD:0015107",
      "MEDGEN:1663316",
      "MESH:C531642",
      "MESH:C564372",
      "OMIM:175780",
      "OMIM:607595",
      "Orphanet:36383",
      "UMLS:C4755307"
    ],
    "synonyms": [
      "ADT1P",
      "BSVD",
      "BSVD1",
      "COL4A1 porencephaly",
      "COL4A1-related brain small vessel disease with haemorrhage",
      "T1P",
      "brain small vessel disease with axenfeld-rieger anomaly",
      "brain small vessel disease with haemorrhage",
      "brain small vessel disease with hemorrhage",
      "brain small vessel disease with or without ocular anomalies",
      "hemiplegia, infantile, with porencephaly",
      "leukoencephalopathy with axenfeld-rieger anomaly",
      "porencephaly 1",
      "porencephaly caused by mutation in COL4A1",
      "porencephaly type 1",
      "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant",
      "POREN1",
      "hemiplegia, infantile, with porencephaly porencephaly, type 1",
      "porencephaly, type 1, autosomal dominant"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19950,
      "label": "familial porencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12183,
        17717,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112313",
          "GARD:0002258",
          "MEDGEN:401353",
          "OMIMPS:175780",
          "Orphanet:99810",
          "UMLS:C1867983",
          "icd11.foundation:1833583032"
        ],
        "synonyms": [
          "hereditary porencephaly",
          "familial porencephalic white matter disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of porencephaly that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 21,
      "reference_id": "MONDO:0020496"
    },
    {
      "id": 25047,
      "label": "COL4A1-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        26572
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028064"
        ],
        "synonyms": [
          "COL4A1-related disorders"
        ],
        "definition": "The spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia)."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800461"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19950,
      "label": "familial porencephaly"
    },
    {
      "id": 25047,
      "label": "COL4A1-related disorder"
    }
  ]
}