Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Alzheimer's disease 1
go back to main search page
Accession:DOID:0080348 term browser browse the term
Definition:An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. (DO)
Synonyms:exact_synonym: AD1;   Alzheimer Disease Type 1;   Alzheimer disease 1;   Alzheimer's Disease Type 1;   Alzheimer's disease 1, early onset;   early-onset familial form of Alzheimer disease
 narrow_synonym: Alzheimer's Disease, Familial, 1
 broad_synonym: APP-RELATED CONDITION
 related_synonym: APP POLYMORPHISM
 primary_id: MESH:C536594
 alt_id: DOID:9005726;   OMIM:104300


show annotations for term's descendants           Sort by:
Alzheimer's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: APP POLYMORPHISM | ClinVar Annotator: match by term: APP-related condition | ClinVar Annotator: match by term: Alzheimer disease type 1 OMIM
ClinVar		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Mpo myeloperoxidase ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar
OMIM		 PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 More... NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:25741868 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Plau plasminogen activator, urokinase susceptibility ISO OMIM NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Diseases of the Aged 1474
      dementia 874
        Alzheimer's disease 499
          Alzheimer's disease 1 5
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              cognitive disorder 2302
                dementia 874
                  Alzheimer's disease 499
                    Alzheimer's disease 1 5
paths to the root