{
  "id": 7260,
  "label": "cerebral amyloid angiopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005620",
  "properties": {
    "xrefs": [
      "DOID:9246",
      "EFO:0006790",
      "GARD:0010266",
      "ICD10CM:I68.0",
      "ICD9:277.39",
      "MEDGEN:267610",
      "MESH:D016657",
      "NCIT:C84625",
      "Orphanet:85458",
      "SCTID:230724001",
      "UMLS:C1510489"
    ],
    "synonyms": [
      "HCHWA",
      "dutch hereditary cerebral amyloid angiopathy",
      "hereditary cerebral haemorrhage with amyloidosis - Dutch type",
      "hereditary cerebral hemorrhage with amyloidosis - Dutch type",
      "CAA, familial",
      "cerebral amyloid angiopathy, familial",
      "cerebral amyloid angiopathy, genetic"
    ],
    "categories": [
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA) describes a group of rare familial central nervous system disorders characterized by amyloid deposition in the cerebral blood vessels leading to hemorrhagic and non-hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 18631,
      "label": "hereditary amyloidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        18960
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0006611",
          "MEDGEN:148146",
          "MESH:D028226",
          "NCIT:C84555",
          "Orphanet:444116",
          "SCTID:367601000119103",
          "UMLS:C0740340",
          "icd11.foundation:1152878652"
        ],
        "synonyms": [
          "amyloidosis, Familial",
          "hereditary amyloidosis (disease)",
          "amyloidosis hereditary",
          "familial amyloidosis"
        ],
        "definition": "Hereditary amyloidosis refers to a group of inherited conditions that make up one of the subtypes of amyloidosis. Hereditary amyloidosisis characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. In hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. While symptoms of hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. There are many types of hereditary amyloidosis associated with different gene mutations and abnormal proteins. The most common type of hereditary amyloidosis is transthyretin amyloidosis (ATTR),a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. Other examplesof hereditary amyloidosis include, but are not limited to, apolipoprotein AI amyloidosis (A ApoAI), gelsolin amyloidosis (A Gel), lysozyme amyloidosis (A Lys), cystatin C amyloidosis (A Cys), fibrinogen Aα-chain amyloidosis (A Fib), and apolipoprotein AII amyloidosis (A ApoAII). Most types of hereditary amyloidosis are inherited in an autosomal dominant manner. Treatment is focused on addressing symptoms of organ damage and slowing down the production of amyloid when possible through methods such as liver transplants."
      },
      "child_count": 18,
      "reference_id": "MONDO:0018634"
    },
    {
      "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": 8511,
      "label": "ACys amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7260
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070027",
          "GARD:0016930",
          "ICD9:277.39",
          "ICD9:437.8",
          "MEDGEN:279656",
          "OMIM:105150",
          "Orphanet:100008",
          "SCTID:703220002",
          "UMLS:C1527338",
          "icd11.foundation:1349991114"
        ],
        "synonyms": [
          "cerebral amyloid angiopathy",
          "CST3-related amyloidosis",
          "HCHWA, Icelandic type",
          "amyloidosis, Cerebroarterial, Icelandic type",
          "cerebral hemorrhage, hereditary, with amyloidosis",
          "cystatin amyloidosis",
          "hereditary cerebral haemorrhage with amyloidosis",
          "hereditary cerebral haemorrhage with amyloidosis, Icelandic type",
          "hereditary cerebral hemorrhage with amyloidosis",
          "hereditary cerebral hemorrhage with amyloidosis, Icelandic type",
          "hereditary cystatin C amyloid angiopathy",
          "CST3-related cerebral amyloid angiopathy",
          "amyloidosis 6",
          "cerebral amyloid angiopathy, CST3-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Icelandic type is a form of HCHWA characterized by an age of onset of 20-30 years, systemic amyloidosis and recurrent lobar intracerebral hemorrhages."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007098"
    },
    {
      "id": 8697,
      "label": "ADan amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7260,
        18594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070030",
          "GARD:0009169",
          "MEDGEN:396208",
          "MESH:C538209",
          "OMIM:117300",
          "Orphanet:97346",
          "UMLS:C1861735",
          "icd11.foundation:2086401830",
          "icd11.foundation:54507082"
        ],
        "synonyms": [
          "FDD",
          "HOOE",
          "Heredopathia Ophthalmootoencephalica",
          "cerebellar ataxia, cataract, deafness, and dementia Or psychosis",
          "cerebral amyloid angiopathy, ITM2B-related, type 2",
          "familial Danish dementia",
          "familial dementia, Danish type",
          "ITM2B-related cerebral amyloid angiopathy 2",
          "cerebellar ataxia, cataract, deafness, and dementia or psychosis",
          "cerebral amyloid angiopathy, ITM2B-RELATED, 2",
          "dementia, familial Danish"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007297"
    },
    {
      "id": 9612,
      "label": "ABri amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7260,
        18594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070029",
          "GARD:0008344",
          "MEDGEN:1677186",
          "MESH:C538208",
          "OMIM:176500",
          "Orphanet:97345",
          "UMLS:C5190835",
          "icd11.foundation:1037669378",
          "icd11.foundation:1314005795"
        ],
        "synonyms": [
          "ABri amyloidosis",
          "FBD",
          "cerebral amyloid angiopathy, British type",
          "cerebral amyloid angiopathy, ITM2B-related, type 1",
          "familial dementia, British type",
          "presenile dementia with spastic ataxia",
          "Bri amyloidosis",
          "ITM2B-related cerebral amyloid angiopathy 1",
          "cerebral amyloid angiopathy, ITM2B-RELATED, 1",
          "dementia familial British",
          "dementia, familial British"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008306"
    },
    {
      "id": 12679,
      "label": "cerebral amyloid angiopathy, APP-related",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7260,
        29349
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070028",
          "GARD:0024810",
          "MEDGEN:414044",
          "NCIT:C157147",
          "OMIM:605714",
          "UMLS:C2751536"
        ],
        "synonyms": [
          "HCHWAD",
          "amyloidosis, Cerebroarterial, APP-related",
          "cerebral amyloid angiopathy, APP-related",
          "cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants",
          "APP-related cerebral amyloid angiopathy",
          "amyloidosis, hereditary, with cerebral hemorrhage, Dutch variant",
          "cerebral amyloid angiopathy, APP-related, Arctic variant",
          "cerebral amyloid angiopathy, APP-related, Dutch variant",
          "cerebral amyloid angiopathy, APP-related, Flemish variant",
          "cerebral amyloid angiopathy, APP-related, Iowa variant",
          "cerebral amyloid angiopathy, APP-related, Italian variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3."
      },
      "child_count": 12,
      "reference_id": "MONDO:0011583"
    }
  ],
  "roots": [
    {
      "id": 12183,
      "label": "cerebrovascular disorder"
    },
    {
      "id": 18631,
      "label": "hereditary amyloidosis"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}