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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:APP-related cerebral amyloid angiopathy
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Accession:DOID:0070028 term browser browse the term
Definition:A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. (DO)
Synonyms:exact_synonym: APP-related cerebral amyloid angiopathy, Arctic variant;   Cerebral Amyloid Angiopathy, App-Related, Dutch Variant;   Cerebral Amyloid Angiopathy, App-Related, Flemish Variant;   Cerebral Amyloid Angiopathy, App-Related, Iowa Variant;   Cerebral Amyloid Angiopathy, App-Related, Italian Variant;   Cerebral Amyloid Angiopathy, App-Related, Piedmont Variant;   Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type;   HCHWAD;   cerebroarterial amyloidosis, APP-related;   hereditary amyloidosis with cerebral hemorrhage, Dutch variant
 primary_id: MESH:C537944
 alt_id: OMIM:605714
 xref: NCI:C157147
For additional species annotation, visit the Alliance of Genome Resources.


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APP-related cerebral amyloid angiopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cerebral amyloid angiopathy, APP-related
ClinVar Annotator: match by term: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
CTD
ClinVar
OMIM
PMID:1303239, PMID:1679289, PMID:2111584, PMID:9754958, PMID:9848098, PMID:10821838, PMID:11311152, PMID:11409420, PMID:11441013, PMID:11528419, PMID:12654973, PMID:15502844, PMID:16178030, PMID:18413473, PMID:19225789, PMID:20228223, PMID:20697050, PMID:24878480, PMID:25741868, PMID:26104569, PMID:26402770, PMID:27000221, PMID:27858710, PMID:28350801, PMID:28492532 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          Familial Amyloidosis 31
            APP-related cerebral amyloid angiopathy 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            cerebrovascular disease 829
              intracranial arterial disease 246
                cerebral arterial disease 198
                  cerebral amyloid angiopathy 11
                    APP-related cerebral amyloid angiopathy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.