{
  "id": 12830,
  "label": "Alzheimer disease 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011743",
  "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."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16078,
      "label": "early-onset autosomal dominant Alzheimer disease"
    }
  ]
}