{
  "id": 29349,
  "label": "APP-related brain and vascular amyloidosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060190",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [
    {
      "id": 8501,
      "label": "Alzheimer disease type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078,
        29349
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:48",
          "DOID:0080348",
          "GARD:0009465",
          "MEDGEN:354892",
          "MESH:C536594",
          "OMIM:104300",
          "UMLS:C1863052"
        ],
        "synonyms": [
          "early-onset familial form of Alzheimer disease",
          "AD1",
          "Alzheimer disease 1, familial",
          "Alzheimer disease, familial, 1",
          "AD",
          "Alzheimer disease 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007088"
    },
    {
      "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": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}