{
  "id": 9612,
  "label": "ABri amyloidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008306",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7260,
      "label": "cerebral amyloid angiopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12183,
        18631,
        24270
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0005620"
    },
    {
      "id": 18594,
      "label": "ITM2B amyloidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18631,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017741",
          "ICD9:277.39",
          "MEDGEN:82800",
          "Orphanet:439254",
          "SCTID:45639009",
          "UMLS:C0268393",
          "icd11.foundation:503091580"
        ],
        "synonyms": [
          "ITM2B-related amyloidosis",
          "ITM2B-related cerebral amyloid angiopathy",
          "familial cerebral amyloid angiopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0018591"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7260,
      "label": "cerebral amyloid angiopathy"
    },
    {
      "id": 18594,
      "label": "ITM2B amyloidosis"
    }
  ]
}