{
  "id": 8518,
  "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007105",
  "properties": {
    "xrefs": [
      "DOID:0060213",
      "GARD:0018396",
      "MEDGEN:1830423",
      "NCIT:C168756",
      "OMIM:105550",
      "UMLS:C5779877"
    ],
    "synonyms": [
      "ALSFTD",
      "C9ORF72 frontotemporal dementia with motor neuron disease",
      "C9orf72 frontotemporal dementia with motor neuron disease",
      "FTDMND",
      "amyotrophic lateral sclerosis and/or frontotemporal dementia",
      "frontotemporal dementia and/or amyotrophic lateral sclerosis 1",
      "frontotemporal dementia and/or amyotrophic lateral sclerosis type 1",
      "frontotemporal dementia and/or motor neuron disease",
      "frontotemporal dementia with motor neuron disease caused by mutation in C9ORF72",
      "frontotemporal dementia with motor neuron disease caused by mutation in C9orf72",
      "FTDALS1",
      "frontotemporal dementia and/or amyotrophic lateral sclerosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any frontotemporal dementia with motor neuron disease in which the cause of the disease is a mutation in the C9orf72 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6868,
      "label": "familial amyotrophic lateral sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6718,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0001356",
          "GARD:0024155",
          "MEDGEN:1642547",
          "OMIMPS:105400",
          "UMLS:C4551993"
        ],
        "synonyms": [
          "hereditary amyotrophic lateral sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005144"
    },
    {
      "id": 17506,
      "label": "frontotemporal dementia with motor neuron disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017273",
          "MEDGEN:854771",
          "MESH:C566288",
          "OMIMPS:105550",
          "Orphanet:275872",
          "UMLS:C3888102",
          "icd11.foundation:1171850356"
        ],
        "synonyms": [
          "FTD-ALS",
          "FTD-MND",
          "FTDALS",
          "frontotemporal dementia with ALS",
          "frontotemporal dementia with amyotrophic lateral sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis). The disease is progressive, with death occurring 2-5 years after onset."
      },
      "child_count": 21,
      "reference_id": "MONDO:0017161"
    },
    {
      "id": 22128,
      "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025663",
          "OMIMPS:105500"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0030923"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6868,
      "label": "familial amyotrophic lateral sclerosis"
    },
    {
      "id": 17506,
      "label": "frontotemporal dementia with motor neuron disease"
    },
    {
      "id": 22128,
      "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis"
    }
  ]
}