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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:arterial tortuosity syndrome
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Accession:DOID:0050645 term browser browse the term
Definition:A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (DO)
Synonyms:exact_synonym: ATS;   arterial tortuosity
 primary_id: MESH:C565942
 alt_id: MIM:208050
 xref: GARD:774


show annotations for term's descendants           Sort by:
arterial tortuosity syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414 		JBrowse link
G Emilin1 elastin microfibril interfacer 1 ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 PMID:36351433 NCBI chr 6:25,455,974...25,463,713
Ensembl chr 6:25,445,298...25,463,698 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr 1:202,790,295...202,796,008
Ensembl chr 1:202,790,466...202,795,843 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arterial tortuosity syndrome		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      arterial tortuosity syndrome 6
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      Skin and Connective Tissue Diseases 7809
        connective tissue disease 5960
          bone disease 4413
            bone inflammation disease 1558
              arthropathy 1537
                Joint Instability 49
                  arterial tortuosity syndrome 6
paths to the root