{
  "id": 22204,
  "label": "famililal cerebral cavernous malformations",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0031037",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 3146,
      "label": "cerebral cavernous malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0000820"
    },
    {
      "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": 12420,
      "label": "cerebral cavernous malformation 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22204
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011304"
    },
    {
      "id": 12421,
      "label": "cerebral cavernous malformation 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22204
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060671",
          "GARD:0018314",
          "MEDGEN:355121",
          "MESH:C566393",
          "OMIM:603285",
          "UMLS:C1864040"
        ],
        "synonyms": [
          "CCM3",
          "PDCD10 familial cerebral cavernous malformation",
          "cerebral cavernous malformation 3",
          "cerebral cavernous malformation type 3",
          "cerebral cavernous malformations 3",
          "cerebral cavernous malformations type 3",
          "cerebral cavernous malformations-3",
          "familial cerebral cavernous malformation caused by mutation in PDCD10"
        ],
        "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 PDCD10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011305"
    },
    {
      "id": 20130,
      "label": "cerebral cavernous malformation 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22204
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080491",
          "GARD:0025224",
          "MEDGEN:237128",
          "OMIM:116860",
          "UMLS:C1366911"
        ],
        "synonyms": [
          "cerebral cavernous malformation 1",
          "cerebral cavernous malformations-1",
          "familial cerebral cavernous malformation 1",
          "CCM",
          "cavernous angioma, familial",
          "cavernous angiomatous malformations",
          "cavernous malformations of CNS and retina",
          "cerebral capillary malformations",
          "cerebral cavernous malformations",
          "cerebral cavernous malformations 1",
          "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020724"
    },
    {
      "id": 25336,
      "label": "cerebral cavernous malformation 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22204
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026665",
          "MEDGEN:1794201",
          "OMIM:619538",
          "UMLS:C5561991"
        ],
        "synonyms": [
          "cerebral cavernous malformations 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859192"
    },
    {
      "id": 26174,
      "label": "cerebral cavernous malformations 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22204
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027335",
          "MEDGEN:1875071",
          "OMIM:621032",
          "UMLS:C5975541"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975952"
    }
  ],
  "roots": [
    {
      "id": 3146,
      "label": "cerebral cavernous malformation"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}