{
  "id": 12420,
  "label": "cerebral cavernous malformation 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011304",
  "properties": {
    "xrefs": [
      "DOID:0060670",
      "GARD:0018313",
      "MEDGEN:400438",
      "MESH:C566394",
      "OMIM:603284",
      "UMLS:C1864041"
    ],
    "synonyms": [
      "CCM2",
      "CCM2 familial cerebral cavernous malformation",
      "cerebral cavernous malformation 2",
      "cerebral cavernous malformation type 2",
      "cerebral cavernous malformations type 2",
      "cerebral cavernous malformations-2",
      "familial cerebral cavernous malformation caused by mutation in CCM2",
      "cerebral cavernous malformations 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 22204,
      "label": "famililal cerebral cavernous malformations"
    }
  ]
}