{
  "id": 14791,
  "label": "brain small vessel disease 2A, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013773",
  "properties": {
    "xrefs": [
      "DOID:0112314",
      "GARD:0015808",
      "MEDGEN:482600",
      "OMIM:614483",
      "UMLS:C3280970"
    ],
    "synonyms": [
      "COL4A2 porencephaly",
      "brain small vessel disease 2",
      "porencephaly 2",
      "porencephaly type 2",
      "POREN2"
    ],
    "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 COL4A2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 26572,
      "label": "COL4A1/A2-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "COL4A1/A2 syndrome",
          "Gould syndrome"
        ],
        "definition": "A rare genetic disorder characterized by abnormal blood vessels in the brain (cerebral vasculature defects), eye development defects (ocular dysgenesis), muscle disease (myopathy) and kidney abnormalities (renal pathology) due to a variation in the COL4A1 or COL4A2 gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:1010150"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 19950,
      "label": "familial porencephaly"
    },
    {
      "id": 26572,
      "label": "COL4A1/A2-related disorder"
    }
  ]
}