{
  "id": 3146,
  "label": "cerebral cavernous malformation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000820",
  "properties": {
    "xrefs": [
      "DOID:0060669",
      "MEDGEN:418825",
      "NCIT:C84626",
      "Orphanet:164",
      "UMLS:C2919945",
      "icd11.foundation:916773262"
    ],
    "synonyms": [
      "CCM",
      "brain cavernous hemangioma",
      "cerebral cavernous malformation",
      "familial cavernous angioma"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    }
  ],
  "children": [
    {
      "id": 22204,
      "label": "famililal cerebral cavernous malformations",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3146,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0013641",
          "MEDGEN:419031",
          "OMIMPS:116860",
          "Orphanet:221061",
          "SCTID:717003001",
          "UMLS:C2931263"
        ],
        "synonyms": [
          "familial brain cavernous angioma",
          "familial brain cavernous hemangioma",
          "familial cerebral cavernoma",
          "familial cerebral cavernous malformation",
          "famililal cerebral cavernous malformations",
          "hereditary brain cavernous angioma",
          "hereditary brain cavernous hemangioma",
          "hereditary cerebral cavernoma",
          "hereditary cerebral cavernous malformation",
          "CCM",
          "cavernous angioma, familial",
          "cavernous angiomatous malformations",
          "cavernous malformations of CNS and retina",
          "cerebral capillary malformations",
          "cerebral cavernous malformations",
          "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages."
      },
      "child_count": 10,
      "reference_id": "MONDO:0031037"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    }
  ]
}