{
  "id": 12923,
  "label": "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011842",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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"
    },
    {
      "id": 19547,
      "label": "primary progressive aphasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081388",
          "EFO:0009053",
          "GARD:0008541",
          "MEDGEN:79466",
          "MESH:D018888",
          "NCIT:C85024",
          "Orphanet:95432",
          "UMLS:C0282513"
        ],
        "synonyms": [
          "Mesulam syndrome",
          "PPA",
          "primary progressive aphasia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019806"
    }
  ],
  "children": [
    {
      "id": 16033,
      "label": "progressive non-fluent aphasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073,
        12923
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081390",
          "GARD:0010793",
          "MEDGEN:148373",
          "MESH:D057178",
          "MedDRA:10029542",
          "NCIT:C85025",
          "Orphanet:100070",
          "SCTID:716281000",
          "UMLS:C0751706"
        ],
        "synonyms": [
          "Agramatic variant of PPA",
          "Agramatic variant of primary progressive aphasia",
          "Primary Progressive Nonfluent aphasia",
          "non-fluent variant PPA",
          "non-fluent primary progressive aphasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015059"
    }
  ],
  "roots": [
    {
      "id": 17600,
      "label": "frontotemporal dementia"
    },
    {
      "id": 19547,
      "label": "primary progressive aphasia"
    }
  ]
}