ICD10:http://purl.bioontology.org/ontology/ICD10CM/E71.52 MESH:http://purl.bioontology.org/ontology/MESH/D000326 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_10588
MESH:http://purl.bioontology.org/ontology/MESH/D038261 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_4252
Group of neurodegenerative disorders in which the main pathological observation is abnormal accumulation of alpha-synuclein.
ICD10:http://purl.bioontology.org/ontology/ICD10/G30 MESH:http://purl.bioontology.org/ontology/MESH/D000544 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0002511 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_10652
ICD10:http://purl.bioontology.org/ontology/ICD10CM/G12.21 MESH:http://purl.bioontology.org/ontology/MESH/D000690 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0007354 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_332
SNOMEDCT: http://purl.bioontology.org/ontology/SNOMEDCT/230281007
ICD10:http://purl.bioontology.org/ontology/ICD10CM/F90 MESH:http://purl.bioontology.org/ontology/MESH/D001289 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0007018 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_1094
Attention Deficit Hyperactivity Disorder
Patient's who have an alphasynucleinopathy or so called "Lewy body disease", however, they do not have the typical neuropathological picture of PD. In these cases additional neuropathological findings are considered to contribute to the clinical picture. These additional neuropathological findings vary between cases. Hence the "atypical Parkinson's disease"
ICD10:http://purl.bioontology.org/ontology/ICD10/F84.0, http://purl.bioontology.org/ontology/ICD10/F84.1, http://purl.bioontology.org/ontology/ICD10/F84.5 MESH:http://purl.bioontology.org/ontology/MESH/D000067877 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0000717 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_0060041
Human Phenotype Ontology: http://purl.obolibrary.org/obo/HP_0001251 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_1441
ICD10:http://purl.bioontology.org/ontology/ICD10CM/F31 MESH:http://purl.bioontology.org/ontology/MESH/D001714 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0007302
Category including neoplasms of the brain, both primary (benign/malignant) and secondary (metastatic) forms.
Donors with C9ORF72 mutation mostly show FTD-TDP-B pathology, but FTD-TDP A is also seen.
MESH: http://purl.bioontology.org/ontology/MESH/D016657
Group of disorders in which the main symptom is ataxia.
ICD10: http://purl.bioontology.org/ontology/ICD10CM/G11 MESH: http://purl.bioontology.org/ontology/MESH/D002524 Human phenotype ontology: http://purl.obolibrary.org/obo/HP_0001251 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_0050753
ICD10:http://purl.bioontology.org/ontology/ICD10CM/I67.850 MESH:http://purl.bioontology.org/ontology/MESH/D046589 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_13945
Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy
MESH: http://purl.bioontology.org/ontology/MESH/D020521 DOID: http://purl.obolibrary.org/obo/DOID_6713
MESH:http://purl.bioontology.org/ontology/MESH/D016657 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_9246
Donors without cognitive decline or dementia, who neuropathologically do not meet the criteria for any neurodegenerative disease.
ICD10:http://purl.bioontology.org/ontology/ICD10/A81.0 MESH:http://purl.bioontology.org/ontology/MESH/D007562 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_11949
MESH:http://purl.bioontology.org/ontology/MESH/D003704 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0000726 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_1307
MESH: http://purl.bioontology.org/ontology/MESH/D020961 Human Disease Ontology: https://disease-ontology.org/?id=DOID:12217
MESH:http://purl.bioontology.org/ontology/MESH/D002658 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0012759
ICD10:http://purl.bioontology.org/ontology/ICD10/S06.2, http://purl.bioontology.org/ontology/ICD10/S06 MESH:http://purl.bioontology.org/ontology/MESH/D020833 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0003405
ICD10:http://purl.bioontology.org/ontology/ICD10CM/Q90 MESH:http://purl.bioontology.org/ontology/MESH/D004314
ICD10: http://purl.bioontology.org/ontology/ICD10CM/G24 MESH: http://purl.bioontology.org/ontology/MESH/D004421 Human Phenotype Ontology: http://purl.obolibrary.org/obo/HP_0001332
ICD10:http://purl.bioontology.org/ontology/ICD10CM/G04.9 MESH:http://purl.bioontology.org/ontology/MESH/D004660
Group of pathologic disorders that affect the brain, which cannot be more appropriately included in another category/group.
Human phenotype ontology: http://purl.obolibrary.org/obo/HP_0001298
ICD10:http://purl.bioontology.org/ontology/ICD10/G40 MESH:http://purl.bioontology.org/ontology/MESH/D004827 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0001250 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_1826
MESH:http://purl.bioontology.org/ontology/MESH/C536275 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0002135 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_0060230
ICD10: http://purl.bioontology.org/ontology/ICD10CM/Q99.2 MESH: http://purl.bioontology.org/ontology/MESH/D005600 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_14261
ICD10: http://purl.bioontology.org/ontology/ICD10CM/G11.11
ICD10:http://purl.bioontology.org/ontology/ICD10CM/G31.0 MESH:http://purl.bioontology.org/ontology/MESH/D057174 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0002145 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_9255
Frontoterporal lobe degeneration with FUS (Fused in sarcoma) accumulations.
Donors with frontotomporal lobe degeneration with TDP-43 pathology.
Donors belonging to the category "Frontotemporal Dementia TDP Undefined" are known to have FTD-TDP. However, the subtype (A, B, or C) could not be distinguished.
FTD with TDP-43 pathology, charactarized by numerous short dystrophic neurites and crescentic or oval neuronal cytoplasmatic inclusions, concentrated primarely in neocortical layer II.
FTD with TDP-43 pathology, charactarized by a moderate numbers of neuronal cytoplasmatic inclusions, in all cortical layers, but with only few dystrophic neurites.
FTD with TDP-43 pathology, characterized by a predominance of elongated dystrophic neurites in upper cortical layers with only few neuronal cytoplasmatic inclusions.
Donors with FTD characterized by abnormal intracellular accumulation of hyperphosphorilated tau.
Donors with frontotemporal lobar degeneration with ubiquitin or P62 only immunoreactive inclusions (negative for all other proteins, as well as cases that have not yet been analyzed with FUS or TDP-43)
Donors belonging to the category "Frontotemporal Dementia Undefined" are known to have FTD. However, the subtype could not be distinguished.
ICD10:http://purl.bioontology.org/ontology/ICD10/G61.0 MESH:http://purl.bioontology.org/ontology/MESH/D020275 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_12842
ICD10:http://purl.bioontology.org/ontology/ICD10/G60.0 MESH:http://purl.bioontology.org/ontology/MESH/D015417
ICD10:http://purl.bioontology.org/ontology/ICD10/G11.4 MESH:http://purl.bioontology.org/ontology/MESH/D015419 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0002313
ICD10:http://purl.bioontology.org/ontology/ICD10CM/G93.81 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0033715
ICD10:http://purl.bioontology.org/ontology/ICD10CM/B20-B20 MESH:http://purl.bioontology.org/ontology/MESH/D006678
ICD10:http://purl.bioontology.org/ontology/ICD10CM/G10 MESH:http://purl.bioontology.org/ontology/MESH/D006816 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_12858
ICD10:http://purl.bioontology.org/ontology/ICD10/G91 MESH:http://purl.bioontology.org/ontology/MESH/D006849 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0000238 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_10908
Incidental Lewy body disease is the presence of Lewy bodies or Lewy neurites without clinical findings of parkinsonism or dementia.
MESH: http://purl.bioontology.org/ontology/MESH/D016631 Human phenotype ontology: http://purl.obolibrary.org/obo/HP_0100315 PUBMED: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366193/, https://pubmed.ncbi.nlm.nih.gov/20175211/
Human Phenotype Ontology: http://purl.obolibrary.org/obo/HP_0002637
ICD10:http://purl.bioontology.org/ontology/ICD10CM/Q98.1, http://purl.bioontology.org/ontology/ICD10CM/Q98.0,http://purl.bioontology.org/ontology/ICD10CM/Q98.4 MESH:http://purl.bioontology.org/ontology/MESH/D007713 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_1921
ICD10: http://purl.bioontology.org/ontology/ICD10CM/F04 MESH:http://purl.bioontology.org/ontology/MESH/D020915 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_10915
Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0002415 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_10579
Donors belonging to the category "Leukodystrophy Other" have Leukodystrophy, but this was not further specified.
ICD10: http://purl.bioontology.org/ontology/ICD10CM/F33 MESH:http://purl.bioontology.org/ontology/MESH/D003865 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0000716 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_1470
ICD10:http://purl.bioontology.org/ontology/ICD10/G00 MESH:http://purl.bioontology.org/ontology/MESH/D008581 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0001287
MESH:http://purl.bioontology.org/ontology/MESH/D008659, http://purl.bioontology.org/ontology/MESH/D001928 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_0014667
Donors belonging to the category "Motor Neuron Disease Other" have a Motor Neuron Disease which is different from ALS, but not further specified.
ICD10:http://purl.bioontology.org/ontology/ICD10CM/G12.2 MESH:http://purl.bioontology.org/ontology/MESH/D000690 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_231
ICD10: http://purl.bioontology.org/ontology/ICD10CM/G35 MESH: http://purl.bioontology.org/ontology/MESH/D009103 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_2377
Human Disease Ontology: https://disease-ontology.org/?id=DOID:0050784
Human Disease Ontology: https://disease-ontology.org/?id=DOID:2378
Human Disease Ontology: https://disease-ontology.org/?id=DOID:0050783
Multiple Sclerosis Secondary Progressive
Donors belonging to the category "Multiple Sclerosis Undefined" are known to have MS. However, the subtype could not be distinguished.
MESH: http://purl.bioontology.org/ontology/MESH/D019578 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_4752
Category including the mutations that occur in donors and that are relevant for understanding their family or clinical history.
ICD10: http://purl.bioontology.org/ontology/ICD10CM/G47.41 MESH: http://purl.bioontology.org/ontology/MESH/D009290 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_8986
Group of disorders characterized by inflammation in the central nervous system.
MESH: http://purl.bioontology.org/ontology/MESH/D020274
Category including neurological disorders with various causes (genetic, autoimmune, vascular, infectious). Progressive neurodegenerative disorders form a separate category.
ICD10: http://purl.bioontology.org/ontology/ICD10CM/G36.0 MESH: http://purl.bioontology.org/ontology/MESH/D009471 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_8869
Category including neuropathophysiological traits observed on autopsy.
ICD10:http://purl.bioontology.org/ontology/ICD10CM/F03.9, http://purl.bioontology.org/ontology/ICD10CM/G31.1 Human Phenotype Ontology:http://purl.obolibrary.org/obo/HP_0000726
ICD10: http://purl.bioontology.org/ontology/ICD10CM/C85 MESH: http://purl.bioontology.org/ontology/MESH/D008228 Human Phenotype Ontology: http://purl.obolibrary.org/obo/HP_0012539 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_0060060
ICD10:http://purl.bioontology.org/ontology/ICD10CM/F42 MESH:http://purl.bioontology.org/ontology/MESH/D009771 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_10933
Category including disorders that may have implications for nervous system structure and function.
Other Disorders with Neurological Implications
Pathogenic mutation in Progranulin (GRN) gene on chromosome 17.
MESH:http://purl.bioontology.org/ontology/MESH/C564910 Human phenotype ontology: http://purl.obolibrary.org/obo/HP_0007132
ICD10: http://purl.bioontology.org/ontology/ICD10CM/G20 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_14330
Donors with with clinical and neuropathological PD, and clinical cognitive decline/dementia.
ICD10:http://purl.bioontology.org/ontology/ICD10CM/G31.01 MESH: http://purl.bioontology.org/ontology/MESH/D020774 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_11870
ICD10:http://purl.bioontology.org/ontology/ICD10CM/G60-G65 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_1389
Donors belonging to the category "Polyneuropathy Other" have Polyneuropathy, but this was not further specified.
ICD10:http://purl.bioontology.org/ontology/ICD10CM/F43.1 MESH:http://purl.bioontology.org/ontology/MESH/D013313 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_2055
ICD10:http://purl.bioontology.org/ontology/ICD10CM/Q87.11 MESH:http://purl.bioontology.org/ontology/MESH/D011218 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_11983
ICD10:http://purl.bioontology.org/ontology/ICD10/A81.2 MESH:http://purl.bioontology.org/ontology/MESH/D007968 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_643
Progressive Multifocal Leucoencephalopathy
Category including disorders characterized by progressive dysfunction of the nervous system.
MESH:http://purl.bioontology.org/ontology/MESH/D013494 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_678
Category including psychiatric disorders.
ICD10: http://purl.bioontology.org/ontology/ICD10CM/F01-F99 MESH: http://purl.bioontology.org/ontology/MESH/D001523 Human disease ontology: https://disease-ontology.org/?id=DOID_150
Donors belonging to the category "Psychiatric Disorder Other" have a Psychiatric Disorder, but this was not further specified.
Category including disorders that are infrequently observed in the general population and/or the autopsy cohort.
ICD10:http://purl.bioontology.org/ontology/ICD10CM/F20 MESH:http://purl.bioontology.org/ontology/MESH/D012559 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_5419
SICC is a term used by the Netherlands Brain Bank since the beginning. At first it was only about the progress of amyloid plagues and neurofibrillary tangles, but not sufficient enough to meet the criteria for Alzheimer’s disease. Over the years, the neuropathological field has developed, and by now SICC encompasses both amyloid plaques (up to Thal phase 3 out of 5) and tangles (Braak 1, 2 and 3), but also ARTAG (age-related tau-astrogliopathy) and mild cerebral amyloid angiopathy. In the present these findings are all written down separately.
Donors with cerebral septic lesions and/or a cerebral abcess.
ICD10: http://purl.bioontology.org/ontology/ICD10CM/G11 MESH: http://purl.bioontology.org/ontology/MESH/D020754 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_0050753
Group of rare syndromes associated with a specific genetic cause.
MESH:http://purl.bioontology.org/ontology/MESH/D024801 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_680
ICD10: http://purl.bioontology.org/ontology/ICD10CM/F01 MESH: http://purl.bioontology.org/ontology/MESH/D015140 DOID: https://disease-ontology.org/?id=DOID:8725
Donors with neuropathological vascular lesions (infarctions/atherosclerosis/hemmorhages).
Group of traits observed on autopsy related to vascular pathology.
ICD10:http://purl.bioontology.org/ontology/ICD10CM/E51.2 MESH:http://purl.bioontology.org/ontology/MESH/D014899 Human disease ontology: http://purl.obolibrary.org/obo/DOID_2384
MESH: http://purl.bioontology.org/ontology/MESH/C564105 Human Disease Ontology: http://purl.obolibrary.org/obo/DOID_0050879
Fragile-X-Associated Tremor/Ataxia Syndrome
ICD10: http://purl.bioontology.org/ontology/ICD10CM/R90.0 MESH: http://purl.bioontology.org/ontology/MESH/D001932 Human Phenotype Ontology: http://purl.obolibrary.org/obo/HP_0030692 Human Disease Ontology:http://purl.obolibrary.org/obo/DOID_1319
Tissue_is_not_usable_or_diagnosis_is_other_than_described_in_list_or_diagnosis is_unknown
Tissue is not usable, or diagnosis is other than described in list, or diagnosis is unknown