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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 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339 		JBrowse link
G ACTA2-AS1 ACTA2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr10:88,932,684...88,939,974
Ensembl chr10:88,932,390...88,940,820 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP DNA:missense mutation:CDS:p.D203A (human) RGD PMID:22943132 RGD:42722010 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EMILIN1 elastin microfibril interfacer 1 IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:28492532 PMID:36351433 NCBI chr 2:27,078,615...27,086,403
Ensembl chr 2:27,078,615...27,086,403 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP
EXP		 ClinVar Annotator: match by term: Arterial tortuosity syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12801113 PMID:14569121 PMID:16199547 PMID:16550171 More... NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    syndrome 29836
      arterial tortuosity syndrome 7
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      Skin and Connective Tissue Diseases 23021
        connective tissue disease 16001
          bone disease 12638
            bone inflammation disease 6250
              arthropathy 6224
                Joint Instability 71
                  arterial tortuosity syndrome 7
paths to the root