{
  "id": 17600,
  "label": "frontotemporal dementia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017276",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "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": 2960,
      "label": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16735,
        17600
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050881",
          "GARD:0010899",
          "MEDGEN:322251",
          "OMIMPS:167320",
          "Orphanet:52430",
          "SCTID:703544004",
          "UMLS:C1833662",
          "icd11.foundation:1947548457"
        ],
        "synonyms": [
          "IBMPFD",
          "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia",
          "inclusion body myopathy/Paget disease/frontotemporal dementia",
          "limb-girdle muscular dystrophy with Paget disease of bone",
          "pagetoid amyotrophic lateral sclerosis",
          "pagetoid neuroskeletal syndrome",
          "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy); early-onset Paget disease of bone, manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia, manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure."
      },
      "child_count": 12,
      "reference_id": "MONDO:0000507"
    },
    {
      "id": 9550,
      "label": "Pick disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17600,
        21293,
        23499
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11870",
          "EFO:0003096",
          "GARD:0024611",
          "ICD10CM:G31.01",
          "ICD9:331.11",
          "MEDGEN:116020",
          "MESH:D020774",
          "NCIT:C85008",
          "OMIM:172700",
          "SCTID:13092008",
          "UMLS:C0236642"
        ],
        "synonyms": [
          "PICK disease of brain",
          "Pick disease",
          "lobar atrophy of brain",
          "Pick disease of the brain",
          "Pick's disease",
          "dementia with lobar atrophy and neuronal cytoplasmic inclusions",
          "lobar atrophy of the brain"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008243"
    },
    {
      "id": 12923,
      "label": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17600,
        19547
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060672",
          "GARD:0010004",
          "MEDGEN:375285",
          "OMIM:607485",
          "UMLS:C1843792"
        ],
        "synonyms": [
          "FTLD-TDP, GRN-related",
          "aphasia, primary progressive",
          "dementia, hereditary dysphasic disinhibition",
          "frontotemporal dementia with TDP43 inclusions, GRN-related",
          "frontotemporal dementia, ubiquitin-positive",
          "frontotemporal lobar degeneration with TDP43 inclusions, GRN-related",
          "frontotemporal lobar degeneration with ubiquitin-positive inclusions"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has material basis in mutation in the GRN gene on chromosome 17q21.31."
      },
      "child_count": 2,
      "reference_id": "MONDO:0011842"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16360,
      "label": "hereditary dementia"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}