{
  "id": 23839,
  "label": "familial Alzheimer disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100087",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 6717,
      "label": "Alzheimer disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3823,
        7220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10652",
          "HP:0002511",
          "ICD10CM:G30",
          "ICD10WHO:G30",
          "ICD9:290.1",
          "ICD9:331.0",
          "MEDGEN:1853",
          "MESH:D000544",
          "NCIT:C2866",
          "Orphanet:238616",
          "SCTID:142811000119104",
          "UMLS:C0002395",
          "birnlex:2092",
          "icd11.foundation:1611724421"
        ],
        "synonyms": [
          "AD",
          "Alzheimer dementia",
          "Alzheimer disease",
          "Alzheimer's dementia",
          "Alzheimer's disease",
          "Alzheimers disease",
          "presenile and senile dementia",
          "Alzheimer disease, familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language."
      },
      "child_count": 10,
      "reference_id": "MONDO:0004975"
    },
    {
      "id": 16360,
      "label": "hereditary dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3823,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020028",
          "MEDGEN:1842422",
          "Orphanet:158124",
          "UMLS:C5680680"
        ],
        "synonyms": [
          "genetic dementia"
        ],
        "definition": "An instance of dementia that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 30,
      "reference_id": "MONDO:0015547"
    },
    {
      "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": 8502,
      "label": "Alzheimer disease 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23839
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110035",
          "MEDGEN:400197",
          "MESH:C536595",
          "OMIM:104310",
          "UMLS:C1863051"
        ],
        "synonyms": [
          "AD2",
          "Alzheimer disease 2",
          "Alzheimer disease associated with APOE E4",
          "Alzheimer disease associated with APOE4",
          "Alzheimer disease type 2",
          "Alzheimer's disease 2",
          "Alzheimer's disease type 2",
          "late onset Alzheimer disease",
          "late onset familial Alzheimer disease",
          "late-onset familial alzheimer disease",
          "Alzheimer disease 2, late-onset",
          "LOFAD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007089"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 6717,
      "label": "Alzheimer disease"
    },
    {
      "id": 16360,
      "label": "hereditary dementia"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}