{
  "id": 17506,
  "label": "frontotemporal dementia with motor neuron disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017161",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 7073,
      "label": "movement disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:480",
          "EFO:0004280",
          "ICD9:333.90",
          "ICD9:333.99",
          "MEDGEN:10113",
          "MESH:D009069",
          "NCIT:C116757",
          "SCTID:60342002",
          "UMLS:C0026650"
        ],
        "synonyms": [
          "movement disease",
          "movement disorder",
          "movement disorders"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement."
      },
      "child_count": 54,
      "reference_id": "MONDO:0005395"
    },
    {
      "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": 8518,
      "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6868,
        17506,
        22128
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007105"
    },
    {
      "id": 13023,
      "label": "amyotrophic lateral sclerosis type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6868,
        17506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060198",
          "GARD:0009874",
          "MEDGEN:419901",
          "MESH:C567699",
          "OMIM:608030",
          "UMLS:C2931786"
        ],
        "synonyms": [
          "ALS6",
          "FUS amyotrophic lateral sclerosis",
          "amyotrophic lateral sclerosis caused by mutation in FUS",
          "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the FUS gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011951"
    },
    {
      "id": 13830,
      "label": "amyotrophic lateral sclerosis type 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6868,
        17506
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060201",
          "GARD:0015540",
          "MEDGEN:383137",
          "MESH:C567429",
          "OMIM:612069",
          "UMLS:C2677565"
        ],
        "synonyms": [
          "ALS10",
          "TARDBP amyotrophic lateral sclerosis",
          "amyotrophic lateral sclerosis 10, with or without FTD",
          "amyotrophic lateral sclerosis caused by mutation in TARDBP",
          "amyotrophic lateral sclerosis type 10",
          "frontotemporal lobar degeneration, TARDBP-related",
          "Ftld-TDP, Tardbp-related",
          "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia",
          "frontotemporal dementia with Tdp43 inclusions, Tardbp-related",
          "frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the TARDBP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012790"
    },
    {
      "id": 14531,
      "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6868,
        17506,
        22128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060205",
          "GARD:0015733",
          "MEDGEN:1759760",
          "OMIM:613954",
          "UMLS:C5436279"
        ],
        "synonyms": [
          "VCP amyotrophic lateral sclerosis",
          "amyotrophic lateral sclerosis caused by mutation in VCP"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the VCP gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013501"
    },
    {
      "id": 15397,
      "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6868,
        17506,
        22128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060214",
          "GARD:0018397",
          "MEDGEN:863085",
          "OMIM:615911",
          "UMLS:C4014648"
        ],
        "synonyms": [
          "FTDALS2",
          "frontotemporal dementia and/or amyotrophic lateral sclerosis 2",
          "frontotemporal dementia and/or amyotrophic lateral sclerosis type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An amyotrophic lateral sclerosis that has material basis in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014395"
    },
    {
      "id": 15636,
      "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6868,
        17505,
        17506,
        22128,
        25050
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110068",
          "GARD:0016113",
          "MEDGEN:897127",
          "OMIM:616437",
          "UMLS:C4225326"
        ],
        "synonyms": [
          "FTDALS3",
          "frontotemporal dementia and/or amyotrophic lateral sclerosis 3",
          "frontotemporal dementia and/or amyotrophic lateral sclerosis type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014640"
    },
    {
      "id": 15637,
      "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6868,
        17506,
        22128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110069",
          "GARD:0018398",
          "MEDGEN:902979",
          "OMIM:616439",
          "UMLS:C4225325"
        ],
        "synonyms": [
          "FTDALS4",
          "frontotemporal dementia and/or amyotrophic lateral sclerosis 4",
          "frontotemporal dementia and/or amyotrophic lateral sclerosis type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An amyotrophic lateral sclerosis that has material basis in mutation in the TBK1 gene on chromosome 12q14."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014641"
    }
  ],
  "roots": [
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 16360,
      "label": "hereditary dementia"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}