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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: OMIM:208050;   RDO:0014444
 xref: GARD:774
For additional species annotation, visit the Alliance of Genome Resources.


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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 1:252,537,614...252,550,394
Ensembl chr 1:252,537,615...252,550,394
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Arterial tortuosity ClinVar PMID:25741868 NCBI chr  X:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISS OMIM:208050 MouseDO NCBI chr 1:220,862,474...220,867,973
Ensembl chr 1:220,862,386...220,867,815
JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Arterial tortuosity syndrome
ClinVar Annotator: match by OMIM:208050
OMIM
ClinVar
PMID:12801113, PMID:14569121, PMID:16550171, PMID:17163528, PMID:17935213, PMID:18565096, PMID:18774132, PMID:18818946, PMID:19028722, PMID:19622975, PMID:19781076, PMID:22488877, PMID:23142374, PMID:23410549, PMID:23494979, PMID:24033266, PMID:25373504, PMID:25741868, PMID:25944730, PMID:26376865, PMID:28492532, PMID:28726533, PMID:29907982 NCBI chr 3:162,182,156...162,194,610
Ensembl chr 3:162,181,974...162,194,804
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      arterial tortuosity syndrome 4
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            Genetic Skin Diseases 887
              arterial tortuosity syndrome 4
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.