{
  "id": 12679,
  "label": "cerebral amyloid angiopathy, APP-related",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011583",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "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": 29349,
      "label": "APP-related brain and vascular amyloidosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12183,
        18631,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028185"
        ],
        "synonyms": [
          "APP-related brain and vascular amyloidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hereditary amyloidosis characterized by a spectrum of neurodegenerative and neurovascular phenotypes caused by pathogenic variant in the APP gene, resulting in an abnormal clearance of amyloid peptides, either by overproduction and decreased clearance of amyloid peptides, with deposition of amyloid in plaques and blood vessel walls. Affected individuals may present with progressive cognitive decline, cerebral vascular amyloidosis with white matter changes, and stroke with or without hemorrhage."
      },
      "child_count": 6,
      "reference_id": "MONDO:1060190"
    }
  ],
  "children": [
    {
      "id": 16009,
      "label": "ABeta amyloidosis, dutch type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016929",
          "ICD9:277.39",
          "MEDGEN:419468",
          "Orphanet:100006",
          "SCTID:56453003",
          "UMLS:C2931672",
          "icd11.foundation:1251572976"
        ],
        "synonyms": [
          "ABetaE22Q amyloidosis",
          "HCHWA, Dutch type",
          "HCHWA-D",
          "cerebral amyloid angiopathy, APP-related, Dutch variant",
          "hereditary cerebral haemorrhage with amyloidosis, Dutch type",
          "hereditary cerebral hemorrhage with amyloidosis, Dutch type"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA-D) is a form of HCHWA, a group of familial central nervous system disorders, characterized by severe cerebral amyloid angiopathy (CAA), hemorrhagic and non-hemorrhagic strokes and dementia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015033"
    },
    {
      "id": 18144,
      "label": "ABetaL34V amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017489",
          "MEDGEN:1842835",
          "Orphanet:324703",
          "UMLS:C5679882"
        ],
        "synonyms": [
          "ABeta amyloidosis, Piedmont type",
          "ABetaL34V-related amyloidosis",
          "HCHWA, Piedmont type",
          "hereditary cerebral haemorrhage with amyloidosis, Piedmont type",
          "hereditary cerebral hemorrhage with amyloidosis, Piedmont type"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017945"
    },
    {
      "id": 18145,
      "label": "ABeta amyloidosis, Iowa type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017490",
          "MEDGEN:854855",
          "Orphanet:324708",
          "UMLS:C3888309"
        ],
        "synonyms": [
          "ABetaD23N amyloidosis",
          "HCHWA, Iowa type",
          "cerebral amyloid angiopathy, APP-related, Iowa variant",
          "hereditary cerebral haemorrhage with amyloidosis, Iowa type",
          "hereditary cerebral hemorrhage with amyloidosis, Iowa type"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Iowa type is a form of HCHWA characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes and lobar intracerebral hemorrhages."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017946"
    },
    {
      "id": 18146,
      "label": "ABeta amyloidosis, Italian type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017491",
          "MEDGEN:854854",
          "Orphanet:324713",
          "UMLS:C3888308"
        ],
        "synonyms": [
          "ABetaE22K amyloidosis",
          "HCHWA, Italian type",
          "cerebral amyloid angiopathy, APP-related, Italian variant",
          "hereditary cerebral haemorrhage with amyloidosis, Italian type",
          "hereditary cerebral hemorrhage with amyloidosis, Italian type"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Italian type is a form of HCHWA characterized by an age of onset of 50 years of age, dementia and lobar intracerebral hemorrhage."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017947"
    },
    {
      "id": 18147,
      "label": "ABetaA21G amyloidosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017492",
          "MEDGEN:854853",
          "Orphanet:324718",
          "UMLS:C3888307"
        ],
        "synonyms": [
          "ABeta amyloidosis, Flemish type",
          "ABetaA21G-related amyloidosis",
          "HCHWA, Flemish type",
          "cerebral amyloid angiopathy, APP-related, Flemish variant",
          "hereditary cerebral haemorrhage with amyloidosis, Flemish type",
          "hereditary cerebral hemorrhage with amyloidosis, Flemish type"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Flemish type is a form of HCHWA characterized by an age of onset of 45 years of age, progressive Alzheimer's disease-like dementia and lobar intracerebral hemorrhage in some patients."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017948"
    },
    {
      "id": 18148,
      "label": "ABeta amyloidosis, Arctic type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12679
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017493",
          "MEDGEN:414032",
          "Orphanet:324723",
          "UMLS:C2751494"
        ],
        "synonyms": [
          "ABetaE22G amyloidosis",
          "HCHWA, Arctic type",
          "cerebral amyloid angiopathy, APP-related, Arctic variant",
          "hereditary cerebral haemorrhage with amyloidosis, Arctic type",
          "hereditary cerebral hemorrhage with amyloidosis, Arctic type"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Arctic type is a form of HCHWA characterized by an age of onset of 54-61 years and progressive Alzheimer's disease-like dementia, without intracerebral hemorrhages."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017949"
    }
  ],
  "roots": [
    {
      "id": 7260,
      "label": "cerebral amyloid angiopathy"
    },
    {
      "id": 29349,
      "label": "APP-related brain and vascular amyloidosis"
    }
  ]
}