{
  "id": 17505,
  "label": "behavioral variant of frontotemporal dementia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017160",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 17600,
      "label": "frontotemporal dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16360,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9255",
          "GARD:0008436",
          "ICD10CM:G31.0",
          "MEDGEN:83266",
          "MESH:D057180",
          "MedDRA:10068968",
          "NANDO:1200548",
          "NCIT:C84719",
          "Orphanet:282",
          "UMLS:C0338451",
          "icd11.foundation:831337417"
        ],
        "synonyms": [
          "FTD",
          "MSTD",
          "frontotemporal lobe dementia (FLDEM)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017276"
    }
  ],
  "children": [
    {
      "id": 11992,
      "label": "semantic dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16033,
        17505
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051060",
          "DOID:0081391",
          "GARD:0010792",
          "MEDGEN:83268",
          "NANDO:1200550",
          "OMIM:600274",
          "Orphanet:100069",
          "UMLS:C0338462"
        ],
        "synonyms": [
          "dementia, frontotemporal",
          "dementia, frontotemporal, with or without parkinsonism",
          "semantic primary progressive aphasia",
          "semantic variant PPA",
          "FTD",
          "Ftdp17",
          "Ftld with Tau inclusions",
          "Pallidopontonigral Degeneration",
          "Pick Complex",
          "Wilhelmsen-Lynch disease",
          "dementia, frontotemporal, with Parkinsonism",
          "disinhibition-dementia-Parkinsonism-amyotrophy Complex",
          "frontotemporal dementia",
          "frontotemporal dementia with Parkinsonism",
          "frontotemporal lobar Degeneration with Tau inclusions",
          "frontotemporal lobe dementia",
          "multiple system tauopathy with presenile dementia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Semantic dementia (SD) is a form of frontotemporal dementia (FTD), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010857"
    },
    {
      "id": 12067,
      "label": "frontotemporal dementia and/or amyotrophic lateral sclerosis 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6868,
        17505,
        22128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060208",
          "DOID:0111227",
          "GARD:0015322",
          "ICD9:331.19",
          "MEDGEN:318833",
          "MESH:C563708",
          "MESH:C579991",
          "OMIM:600795",
          "OMIM:614696",
          "SCTID:702393003",
          "UMLS:C1833296"
        ],
        "synonyms": [
          "CHMP2B amyotrophic lateral sclerosis",
          "CHMP2B-related amyotrophic lateral sclerosis",
          "FTD3",
          "amyotrophic lateral sclerosis caused by mutation in CHMP2B",
          "amyotrophic lateral sclerosis, Chmp2B-related",
          "frontotemporal dementia, chromosome 3-linked",
          "Dmt1",
          "dementia, familial nonspecific"
        ],
        "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 CHMP2B gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010936"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 7073,
      "label": "movement disorder"
    },
    {
      "id": 17600,
      "label": "frontotemporal dementia"
    }
  ]
}