{
  "id": 15636,
  "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014640",
  "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."
  },
  "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": 17505,
      "label": "behavioral variant of frontotemporal dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        17600
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007392",
          "MEDGEN:860225",
          "NANDO:1200549",
          "Orphanet:275864",
          "SCTID:716994006",
          "UMLS:C4011788"
        ],
        "synonyms": [
          "bv-FTD"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017160"
    },
    {
      "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"
    },
    {
      "id": 25050,
      "label": "SQSTM1-related multisystem proteinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        20409
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026565"
        ],
        "synonyms": [
          "SQSTM1-related multisystem proteinopathy"
        ],
        "definition": "A group of disorders including Paget disease of bone (PBD), inclusion body myopathy (IBM), and less frequently frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Phenotypic presentation and severity are highly variable, and individuals within the same family may present with different associated conditions."
      },
      "child_count": 6,
      "reference_id": "MONDO:0800464"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6868,
      "label": "familial amyotrophic lateral sclerosis"
    },
    {
      "id": 17505,
      "label": "behavioral variant of frontotemporal dementia"
    },
    {
      "id": 17506,
      "label": "frontotemporal dementia with motor neuron disease"
    },
    {
      "id": 22128,
      "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis"
    },
    {
      "id": 25050,
      "label": "SQSTM1-related multisystem proteinopathy"
    }
  ]
}