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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 12
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Accession:DOID:0080975 term browser browse the term
Definition:An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. (DO)
Synonyms:exact_synonym: ANIB12
 broad_synonym: THSD1-RELATED CONDITION
 primary_id: MIM:618734
 alt_id: DOID:9001608



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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 ISO ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 | ClinVar Annotator: match by term: THSD1-related condition OMIM
ClinVar
PMID:25741868 PMID:27895300 PMID:28492532 NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      cardiovascular system disease 5545
        vascular disease 4027
          Aneurysm 258
            intracranial aneurysm 44
              intracranial berry aneurysm 1
                intracranial berry aneurysm 12 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            cerebrovascular disease 1003
              intracranial arterial disease 334
                cerebral arterial disease 257
                  intracranial aneurysm 44
                    intracranial berry aneurysm 1
                      intracranial berry aneurysm 12 1
paths to the root