{
  "id": 19950,
  "label": "familial porencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020496",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 12183,
      "label": "cerebrovascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        23165
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:6713",
          "EFO:0003763",
          "ICD10CM:I60-I69",
          "ICD9:430-438",
          "ICD9:434.91",
          "ICD9:437.8",
          "ICD9:437.9",
          "MEDGEN:858",
          "MESH:D002561",
          "NCIT:C2938",
          "SCTID:62914000",
          "UMLS:C0007820",
          "icd11.foundation:843843448"
        ],
        "synonyms": [
          "cerebrovascular disease",
          "cerebrovascular disorder",
          "CVA",
          "CVA (cerebral vascular accident)",
          "cerebral infarction",
          "cerebrovascular accident",
          "stroke"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction."
      },
      "child_count": 48,
      "reference_id": "MONDO:0011057"
    },
    {
      "id": 17717,
      "label": "porencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060263",
          "GARD:0007430",
          "HP:0002132",
          "MEDGEN:901502",
          "MESH:D065708",
          "MedDRA:10036172",
          "NANDO:1201074",
          "Orphanet:2940",
          "UMLS:C4082173",
          "icd11.foundation:137059367"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Porencephaly is characterized by a circumscribed intracerebral cavity of variable size that may be bordered by abnormal polymicrogyric gray matter. In extreme cases, this cavity may result in a communication between the pial surface and the ventricle; this is termed schizencephaly."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017410"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9595,
      "label": "brain small vessel disease 1 with or without ocular anomalies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19950,
        25047
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008289"
    },
    {
      "id": 14791,
      "label": "brain small vessel disease 2A, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        19950,
        26572
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013773"
    },
    {
      "id": 23856,
      "label": "brain small vessel disease 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112315",
          "GARD:0026049",
          "MEDGEN:1677948",
          "OMIM:618360",
          "UMLS:C5193053"
        ],
        "synonyms": [
          "BSVD3"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive disorder resulting from fragility of cerebral vessels causing an increased risk of intracranial bleeding. The resultant phenotype is highly variable depending on timing and location of the intracranial bleed. Some patients may have onset in utero or early infancy, with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100105"
    },
    {
      "id": 26327,
      "label": "brain small vessel disease 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061234",
          "GARD:0028124",
          "OMIM:621313"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979873"
    },
    {
      "id": 26331,
      "label": "brain small vessel disease 5 with osteoporosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061235",
          "GARD:0028126",
          "OMIM:621331"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979880"
    },
    {
      "id": 26351,
      "label": "brain small vessel disease 6 with leukoencephalopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061236",
          "OMIM:621394"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980711"
    },
    {
      "id": 26368,
      "label": "brain small vessel disease 2B, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        19950
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061233",
          "OMIM:621414"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0980747"
    }
  ],
  "roots": [
    {
      "id": 12183,
      "label": "cerebrovascular disorder"
    },
    {
      "id": 17717,
      "label": "porencephaly"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}