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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:intracranial berry aneurysm
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Accession:DOID:0060228 term browser browse the term
Definition:An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. (DO)
Synonyms:exact_synonym: familial aneurysmal subarachnoid hemorrhage;   familial berry aneurysm;   familial intracranial saccular aneurysm;   saccular cerebral aneurysm
 xref: OMIM:PS105800;   ORDO:231160


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intracranial berry aneurysm 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THSD1 thrombospondin type 1 domain containing 1 IAGP ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 OMIM
ClinVar		 PMID:25741868 PMID:27895300 NCBI chr13:52,377,167...52,406,172
Ensembl chr13:52,377,167...52,416,373 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      cardiovascular system disease 6065
        vascular disease 3857
          Aneurysm 327
            intracranial aneurysm 43
              intracranial berry aneurysm 1
                Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 0
                intracranial berry aneurysm 1 0
                intracranial berry aneurysm 10 0
                intracranial berry aneurysm 11 0
                intracranial berry aneurysm 12 1
                intracranial berry aneurysm 2 0
                intracranial berry aneurysm 3 0
                intracranial berry aneurysm 4 0
                intracranial berry aneurysm 5 0
                intracranial berry aneurysm 6 0
                intracranial berry aneurysm 7 0
                intracranial berry aneurysm 8 0
                intracranial berry aneurysm 9 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            cerebrovascular disease 1037
              intracranial arterial disease 342
                cerebral arterial disease 260
                  intracranial aneurysm 43
                    intracranial berry aneurysm 1
                      Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification 0
                      intracranial berry aneurysm 1 0
                      intracranial berry aneurysm 10 0
                      intracranial berry aneurysm 11 0
                      intracranial berry aneurysm 12 1
                      intracranial berry aneurysm 2 0
                      intracranial berry aneurysm 3 0
                      intracranial berry aneurysm 4 0
                      intracranial berry aneurysm 5 0
                      intracranial berry aneurysm 6 0
                      intracranial berry aneurysm 7 0
                      intracranial berry aneurysm 8 0
                      intracranial berry aneurysm 9 0
paths to the root