{
  "id": 8501,
  "label": "Alzheimer disease type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007088",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16078,
      "label": "early-onset autosomal dominant Alzheimer disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        23839
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012798",
          "Orphanet:1020"
        ],
        "synonyms": [
          "EOFAD",
          "early-onset familial autosomal dominant Alzheimer disease",
          "early-onset, autosomal dominant Alzheimer disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A progressive dementia with reduction of cognitive functions. It presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old."
      },
      "child_count": 28,
      "reference_id": "MONDO:0015140"
    },
    {
      "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": [],
  "roots": [
    {
      "id": 16078,
      "label": "early-onset autosomal dominant Alzheimer disease"
    },
    {
      "id": 29349,
      "label": "APP-related brain and vascular amyloidosis"
    }
  ]
}