{
  "id": 16078,
  "label": "early-onset autosomal dominant Alzheimer disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015140",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 23839,
      "label": "familial Alzheimer disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6717,
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:82914",
          "UMLS:C0276496"
        ],
        "synonyms": [
          "Alzheimer disease, familial",
          "FAD",
          "GARD:0000632"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A degenerative disease of the brain that causes gradual loss of memory, judgment, and the ability to function socially. About 25% of all Alzheimer disease is familial (more than 2 people in a family have AD). When Alzheimer disease begins before 60 or 65 years of age (early-onset AD) about 60% of the cases are familial (also known as Early-onset familial AD). These cases appear to be inherited in an autosomal dominant manner."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100087"
    }
  ],
  "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": 12316,
      "label": "Alzheimer disease 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110037",
          "GARD:0016507",
          "MEDGEN:356103",
          "MESH:C566578",
          "OMIM:602096",
          "UMLS:C1865868"
        ],
        "synonyms": [
          "AD5",
          "Alzheimer disease 5",
          "Alzheimer disease type 5",
          "Alzheimer disease-5",
          "Alzheimer's disease type 5",
          "Ad5",
          "Alzheimer disease, familial, 5",
          "Alzheimer's disease 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011194"
    },
    {
      "id": 12506,
      "label": "Alzheimer disease without neurofibrillary tangles",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110048",
          "GARD:0007190",
          "MEDGEN:346983",
          "MESH:C536599",
          "MESH:C566998",
          "OMIM:604154",
          "OMIM:611155",
          "UMLS:C1858751"
        ],
        "synonyms": [
          "AD15",
          "Alzheimer disease 15",
          "Alzheimer disease without neurofibrillary tangles",
          "Alzheimer disease-15",
          "Alzheimer's disease 15",
          "Alzheimer's disease type 15",
          "Alzheimer's disease without neurofibrillary tangles"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011401"
    },
    {
      "id": 12613,
      "label": "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016508",
          "MEDGEN:341884",
          "MESH:C565728",
          "OMIM:605055",
          "UMLS:C1857933"
        ],
        "synonyms": [
          "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011513"
    },
    {
      "id": 12657,
      "label": "Alzheimer disease 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110038",
          "GARD:0016509",
          "MEDGEN:381362",
          "MESH:C565325",
          "OMIM:605526",
          "UMLS:C1854187"
        ],
        "synonyms": [
          "AD6",
          "Alzheimer disease 6",
          "Alzheimer disease type 6",
          "Alzheimer's disease 6",
          "Alzheimer's disease type 6",
          "Alzheimer disease 6, late-onset",
          "plasma Beta-amyloid-42 level quantitative trait locus"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011561"
    },
    {
      "id": 12740,
      "label": "Alzheimer disease 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110039",
          "GARD:0016510",
          "MEDGEN:342907",
          "MESH:C565251",
          "OMIM:606187",
          "UMLS:C1853555"
        ],
        "synonyms": [
          "AD7",
          "Alzheimer disease 7",
          "Alzheimer disease type 7",
          "Alzheimer disease-7",
          "Alzheimer's disease 7",
          "Alzheimer's disease type 7",
          "Ad7",
          "Alzheimer disease, familial, 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011647"
    },
    {
      "id": 12830,
      "label": "Alzheimer disease 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110040",
          "GARD:0016511",
          "MEDGEN:376072",
          "MESH:C536596",
          "NCIT:C123413",
          "OMIM:606889",
          "UMLS:C1847200"
        ],
        "synonyms": [
          "AD4",
          "Alzheimer disease 4",
          "Alzheimer disease type 4",
          "Alzheimer disease-4",
          "Alzheimer's disease 4",
          "Alzheimer's disease type 4",
          "familial Alzheimer disease, type 4",
          "familial Alzheimer's disease, type 4",
          "Ad4",
          "Alzheimer disease familial type 4",
          "Alzheimer disease, familial, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011743"
    },
    {
      "id": 12861,
      "label": "Alzheimer disease 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110041",
          "GARD:0016512",
          "MEDGEN:375956",
          "MESH:C564622",
          "OMIM:607116",
          "UMLS:C1846735"
        ],
        "synonyms": [
          "AD8",
          "Alzheimer disease 8",
          "Alzheimer disease type 8",
          "Alzheimer's disease 8",
          "Alzheimer's disease type 8",
          "Ad8",
          "Alzheimer disease, familial, 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011777"
    },
    {
      "id": 12987,
      "label": "Alzheimer disease 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110042",
          "GARD:0016513",
          "MEDGEN:334304",
          "MESH:C536598",
          "NCIT:C123412",
          "OMIM:607822",
          "UMLS:C1843013"
        ],
        "synonyms": [
          "AD3",
          "Alzheimer disease 3",
          "Alzheimer disease type 3",
          "Alzheimer disease, protection against, due to APOE3-Christchurch",
          "Alzheimer disease, type 3",
          "Alzheimer disease, type 3, with spastic paraparesis and apraxia",
          "Alzheimer disease, type 3, with spastic paraparesis and unusual plaques",
          "Alzheimer's disease 3",
          "Alzheimer's disease type 3",
          "PSEN1 early-onset autosomal dominant Alzheimer disease",
          "early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1",
          "familial Alzheimer disease, type 3",
          "familial Alzheimer's disease, type 3",
          "AD",
          "Alzheimer disease 3, early-onset",
          "Alzheimer disease early onset type 3",
          "Alzheimer disease, familial, 3",
          "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia",
          "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011913"
    },
    {
      "id": 13377,
      "label": "Alzheimer disease 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110043",
          "GARD:0016514",
          "MEDGEN:351228",
          "MESH:C566465",
          "OMIM:609636",
          "UMLS:C1864828"
        ],
        "synonyms": [
          "AD10",
          "Alzheimer disease 10",
          "Alzheimer disease type 10",
          "Alzheimer disease-10",
          "Alzheimer's disease 10",
          "Alzheimer's disease type 10",
          "Ad10",
          "Alzheimer disease, familial, 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012321"
    },
    {
      "id": 13398,
      "label": "Alzheimer disease 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110044",
          "GARD:0016515",
          "MEDGEN:377886",
          "MESH:C565228",
          "OMIM:609790",
          "UMLS:C1853360"
        ],
        "synonyms": [
          "AD11",
          "Alzheimer disease 11",
          "Alzheimer disease type 11",
          "Alzheimer disease-11",
          "Alzheimer's disease 11",
          "Alzheimer's disease type 11",
          "Ad11",
          "Alzheimer disease, familial, 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012344"
    },
    {
      "id": 13656,
      "label": "Alzheimer disease 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110045",
          "GARD:0016516",
          "MEDGEN:410013",
          "MESH:C567022",
          "OMIM:611073",
          "UMLS:C1970209"
        ],
        "synonyms": [
          "AD12",
          "Alzheimer disease 12",
          "Alzheimer disease type 12",
          "Alzheimer's disease 12",
          "Alzheimer's disease type 12",
          "Ad12",
          "Alzheimer disease, familial, 12"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012609"
    },
    {
      "id": 13676,
      "label": "Alzheimer disease 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110046",
          "GARD:0016517",
          "MEDGEN:370835",
          "MESH:C567000",
          "OMIM:611152",
          "UMLS:C1970147"
        ],
        "synonyms": [
          "AD13",
          "Alzheimer disease 13",
          "Alzheimer disease-13",
          "Alzheimer's disease 13",
          "Alzheimer's disease type 13"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012630"
    },
    {
      "id": 13677,
      "label": "Alzheimer disease 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16078
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110047",
          "GARD:0016518",
          "MEDGEN:369666",
          "MESH:C566999",
          "OMIM:611154",
          "UMLS:C1970144"
        ],
        "synonyms": [
          "AD14",
          "Alzheimer disease 14",
          "Alzheimer disease-14",
          "Alzheimer's disease 14",
          "Alzheimer's disease type 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012631"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 23839,
      "label": "familial Alzheimer disease"
    }
  ]
}