{"limit":20,"offset":0,"total":6,"items":[{"id":"MONDO:0011842","category":"biolink:Disease","name":"GRN-related frontotemporal lobar degeneration with Tdp43 inclusions","description":"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.","xref":["DOID:0060672","GARD:0010004","MEDGEN:375285","OMIM:607485","UMLS:C1843792"],"synonym":null,"exact_synonym":null,"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":67.00072,"matched_field":null,"match_type":null,"highlighting":{"name":["GRN-related <em>frontotemporal</em> <em>lobar</em> <em>degeneration</em> with Tdp43 inclusions"],"description":["A <em>frontotemporal</em> dementia characterized by variable phenotypic expression typically including"]}},{"id":"MONDO:0017276","category":"biolink:Disease","name":"frontotemporal dementia","description":"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.","xref":["DOID:9255","GARD:0008436","ICD10CM:G31.0","MEDGEN:83266","MESH:D057180","MedDRA:10068968","NANDO:1200548","NCIT:C84719","NORD:673","Orphanet:282","UMLS:C0338451","icd11.foundation:831337417"],"synonym":["FTD","Frontotemporal degeneration","MSTD","frontotemporal lobe dementia (FLDEM)"],"exact_synonym":["FTD","Frontotemporal degeneration"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["MSTD","frontotemporal lobe dementia (FLDEM)"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["disease_grouping","doid_rare","gard_rare","ncit_rare","nord_rare","ordo_group_of_disorders","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":51.283253,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>frontotemporal</em> dementia"],"description":["<em>Frontotemporal</em> dementia (FTD) comprises a group of neurodegenerative disorders, characterized by"],"synonym":["<em>Frontotemporal</em> <em>degeneration</em>"]}},{"id":"MONDO:0017161","category":"biolink:Disease","name":"frontotemporal dementia with motor neuron disease","description":"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.","xref":["GARD:0017273","MEDGEN:854771","MESH:C566288","OMIMPS:105550","Orphanet:275872","UMLS:C3888102","icd11.foundation:1171850356"],"synonym":["FTD-ALS","FTD-MND","FTDALS","frontotemporal dementia with ALS","frontotemporal dementia with amyotrophic lateral sclerosis"],"exact_synonym":["FTD-ALS","FTD-MND","FTDALS","frontotemporal dementia with ALS","frontotemporal dementia with amyotrophic lateral sclerosis"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["gard_rare","nord_rare","ordo_disorder","orphanet_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":32.718224,"matched_field":null,"match_type":null,"highlighting":{"name":["<em>frontotemporal</em> dementia with motor neuron disease"],"description":["<em>Frontotemporal</em> dementia with motor neuron disease (FTD-MND) is a type of <em>frontotemporal</em> <em>lobar</em>"],"synonym":["<em>frontotemporal</em> dementia with ALS"]}},{"id":"MONDO:0012790","category":"biolink:Disease","name":"amyotrophic lateral sclerosis type 10","description":"Any amyotrophic lateral sclerosis in which the cause of the disease is a variation in the TARDBP gene.","xref":["DOID:0060201","GARD:0015540","MEDGEN:383137","MESH:C567429","OMIM:612069","UMLS:C2677565"],"synonym":["ALS10","TARDBP amyotrophic lateral sclerosis","amyotrophic lateral sclerosis 10 with or without frontotemporal dementia","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"],"exact_synonym":["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"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["amyotrophic lateral sclerosis 10 with or without frontotemporal dementia"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["clingen","doid_rare","gard_rare","nord_rare","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":20.524082,"matched_field":null,"match_type":null,"highlighting":{"synonym":["<em>frontotemporal</em> <em>lobar</em> <em>degeneration</em>, TARDBP-related"]}},{"id":"MONDO:0008243","category":"biolink:Disease","name":"Pick disease","description":"A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.","xref":["DOID:11870","EFO:0003096","GARD:0024611","ICD10CM:G31.01","ICD9:331.11","MEDGEN:116020","MESH:D020774","NCIT:C85008","OMIM:172700","SCTID:13092008","UMLS:C0236642"],"synonym":["PICK disease of brain","Pick disease","Pick disease of the brain","lobar atrophy of brain","lobar atrophy of the brain"],"exact_synonym":["PICK disease of brain","Pick disease","lobar atrophy of brain"],"broad_synonym":null,"narrow_synonym":null,"related_synonym":["Pick disease of the brain","lobar atrophy of the brain"],"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":["doid_rare","gard_rare","ncit_rare","otar","rare"],"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":17.921232,"matched_field":null,"match_type":null,"highlighting":{"description":["A rare neurodegenerative disorder leading to dementia. It is characterized by <em>frontotemporal</em> <em>lobar</em>"],"synonym":["<em>lobar</em> atrophy of brain"]}},{"id":"MONDO:0700038","category":"biolink:Disease","name":"TDP-43 proteinopathy","description":"Disease characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease.","xref":["MEDGEN:439336","MESH:D057177","UMLS:C2718017"],"synonym":null,"exact_synonym":null,"broad_synonym":null,"narrow_synonym":null,"related_synonym":null,"deprecated":null,"in_taxon":null,"in_taxon_label":null,"iri":null,"same_as":null,"subsets":null,"file_source":"phenio_nodes","provided_by":"phenio_nodes","full_name":null,"symbol":null,"has_gene":null,"type":null,"has_attribute":null,"has_biological_sex":null,"synonyms":null,"namespace":"MONDO","has_phenotype":null,"has_phenotype_label":null,"has_phenotype_count":null,"has_phenotype_closure":null,"has_phenotype_closure_label":null,"has_descendant":null,"has_descendant_label":null,"has_descendant_count":null,"score":5.130278,"matched_field":null,"match_type":null,"highlighting":{"description":[" amyloidosis. Both <em>frontotemporal</em> <em>lobar</em> <em>degeneration</em> and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common"]}}],"facet_fields":[{"label":"category","facet_values":[{"label":"biolink:Disease","count":6}]},{"label":"in_taxon_label","facet_values":[]}],"facet_queries":[],"scope":null}