| D009154 |
Mutation |
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. |
Mutations |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000544 |
Alzheimer Disease |
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57) |
Acute Confusional Senile Dementia,Alzheimer's Diseases,Dementia, Alzheimer Type,Dementia, Senile,Presenile Alzheimer Dementia,Senile Dementia, Alzheimer Type,Alzheimer Dementia,Alzheimer Disease, Early Onset,Alzheimer Disease, Late Onset,Alzheimer Sclerosis,Alzheimer Syndrome,Alzheimer Type Senile Dementia,Alzheimer's Disease,Alzheimer's Disease, Focal Onset,Alzheimer-Type Dementia (ATD),Dementia, Presenile,Dementia, Primary Senile Degenerative,Early Onset Alzheimer Disease,Familial Alzheimer Disease (FAD),Focal Onset Alzheimer's Disease,Late Onset Alzheimer Disease,Primary Senile Degenerative Dementia,Senile Dementia, Acute Confusional,Alzheimer Dementias,Alzheimer Disease, Familial (FAD),Alzheimer Diseases,Alzheimer Type Dementia,Alzheimer Type Dementia (ATD),Alzheimers Diseases,Dementia, Alzheimer,Dementia, Alzheimer-Type (ATD),Familial Alzheimer Diseases (FAD),Presenile Dementia,Sclerosis, Alzheimer,Senile Dementia |
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| D015415 |
Biomarkers |
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, ENVIRONMENTAL EXPOSURE and its effects, disease diagnosis; METABOLIC PROCESSES; SUBSTANCE ABUSE; PREGNANCY; cell line development; EPIDEMIOLOGIC STUDIES; etc. |
Biochemical Markers,Biological Markers,Biomarker,Clinical Markers,Immunologic Markers,Laboratory Markers,Markers, Biochemical,Markers, Biological,Markers, Clinical,Markers, Immunologic,Markers, Laboratory,Markers, Serum,Markers, Surrogate,Markers, Viral,Serum Markers,Surrogate Markers,Viral Markers,Biochemical Marker,Biologic Marker,Biologic Markers,Clinical Marker,Immune Marker,Immune Markers,Immunologic Marker,Laboratory Marker,Marker, Biochemical,Marker, Biological,Marker, Clinical,Marker, Immunologic,Marker, Laboratory,Marker, Serum,Marker, Surrogate,Serum Marker,Surrogate End Point,Surrogate End Points,Surrogate Endpoint,Surrogate Endpoints,Surrogate Marker,Viral Marker,Biological Marker,End Point, Surrogate,End Points, Surrogate,Endpoint, Surrogate,Endpoints, Surrogate,Marker, Biologic,Marker, Immune,Marker, Viral,Markers, Biologic,Markers, Immune |
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| D016229 |
Amyloid beta-Peptides |
Peptides generated from AMYLOID BETA-PEPTIDES PRECURSOR. An amyloid fibrillar form of these peptides is the major component of amyloid plaques found in individuals with Alzheimer's disease and in aged individuals with trisomy 21 (DOWN SYNDROME). The peptide is found predominantly in the nervous system, but there have been reports of its presence in non-neural tissue. |
Alzheimer beta-Protein,Amyloid Protein A4,Amyloid beta-Peptide,Amyloid beta-Protein,beta Amyloid,beta-Amyloid Protein,Alzheimer's ABP,Alzheimer's Amyloid Fibril Protein,Amyloid AD-AP,Amyloid Fibril Protein, Alzheimer's,Amyloid beta-Proteins,ABP, Alzheimer's,AD-AP, Amyloid,Alzheimer ABP,Alzheimer beta Protein,Alzheimers ABP,Amyloid AD AP,Amyloid beta Peptide,Amyloid beta Peptides,Amyloid beta Protein,Amyloid beta Proteins,Amyloid, beta,Protein A4, Amyloid,Protein, beta-Amyloid,beta Amyloid Protein,beta-Peptide, Amyloid,beta-Peptides, Amyloid,beta-Protein, Alzheimer,beta-Protein, Amyloid,beta-Proteins, Amyloid |
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| D016875 |
tau Proteins |
Microtubule-associated proteins that are mainly expressed in neurons. Tau proteins constitute several isoforms and play an important role in the assembly of tubulin monomers into microtubules and in maintaining the cytoskeleton and axonal transport. Aggregation of specific sets of tau proteins in filamentous inclusions is the common feature of intraneuronal and glial fibrillar lesions (NEUROFIBRILLARY TANGLES; NEUROPIL THREADS) in numerous neurodegenerative disorders (ALZHEIMER DISEASE; TAUOPATHIES). |
tau Protein,Protein, tau,Proteins, tau |
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| D042241 |
Early Diagnosis |
Methods to determine in patients the nature of a disease or disorder at its early stage of progression. Generally, early diagnosis improves PROGNOSIS and TREATMENT OUTCOME. |
Early Detection of Disease,Diagnosis, Early,Disease Early Detection |
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| D057180 |
Frontotemporal Dementia |
The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight. |
DDPAC,Dementia, Frontotemporal,Dementia, Frontotemporal, with Parkinsonism,Dementia, Hereditary Dysphasic Disinhibition,Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex,Disinhibition-Dementia-Parkinsonism-Amytrophy Complex,FTD-GRN,FTD-PGRN,FTDP-17,FTLD with TDP-43 Pathology,FTLD-17 GRN,FTLD-TDP,Familial Pick's Disease,Frontotemporal Dementia with Parkinsonism,Frontotemporal Dementia with Parkinsonism-17,Frontotemporal Dementia, Ubiquitin-Positive,Frontotemporal Lobar Degeneration With Ubiquitin-Positive Inclusions,Frontotemporal Lobe Dementia,Frontotemporal Lobe Dementia (FLDEM),GRN-Related Frontotemporal Dementia,HDDD1,HDDD2,Hereditary Dysphasic Disinhibition Dementia,Multiple System Tauopathy with Presenile Dementia,Semantic Dementia,Wilhelmsen-Lynch Disease,Complex, Disinhibition-Dementia-Parkinsonism-Amyotrophy,Complex, Disinhibition-Dementia-Parkinsonism-Amytrophy,Complices, Disinhibition-Dementia-Parkinsonism-Amyotrophy,Complices, Disinhibition-Dementia-Parkinsonism-Amytrophy,Dementia, Frontotemporal Lobe,Dementia, Frontotemporal Lobe (FLDEM),Dementia, GRN-Related Frontotemporal,Dementia, Semantic,Dementia, Ubiquitin-Positive Frontotemporal,Dementias, Frontotemporal,Dementias, Frontotemporal Lobe,Dementias, Frontotemporal Lobe (FLDEM),Dementias, GRN-Related Frontotemporal,Dementias, Semantic,Dementias, Ubiquitin-Positive Frontotemporal,Disease, Familial Pick's,Disease, Wilhelmsen-Lynch,Diseases, Familial Pick's,Diseases, Wilhelmsen-Lynch,Disinhibition Dementia Parkinsonism Amyotrophy Complex,Disinhibition Dementia Parkinsonism Amytrophy Complex,Disinhibition-Dementia-Parkinsonism-Amyotrophy Complices,Disinhibition-Dementia-Parkinsonism-Amytrophy Complices,FTLD with TDP 43 Pathology,Familial Pick Disease,Familial Pick's Diseases,Familial Picks Disease,Frontotemporal Dementia with Parkinsonism 17,Frontotemporal Dementia, GRN-Related,Frontotemporal Dementia, Ubiquitin Positive,Frontotemporal Dementias,Frontotemporal Dementias, GRN-Related,Frontotemporal Dementias, Ubiquitin-Positive,Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions,Frontotemporal Lobe Dementias,Frontotemporal Lobe Dementias (FLDEM),GRN Related Frontotemporal Dementia,GRN-Related Frontotemporal Dementias,Lobe Dementia, Frontotemporal,Lobe Dementias, Frontotemporal,Pick's Disease, Familial,Pick's Diseases, Familial,Semantic Dementias,Ubiquitin-Positive Frontotemporal Dementia,Ubiquitin-Positive Frontotemporal Dementias,Wilhelmsen Lynch Disease,Wilhelmsen-Lynch Diseases |
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