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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:Raynaud disease
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Accession:DOID:10300 term browser browse the term
Definition:A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress. (DO)
Synonyms:exact_synonym: Raynaud Phenomenon;   Raynaud's disease;   Raynaud's syndrome;   Raynauds disease;   hereditary cold fingers
 primary_id: MESH:D011928
 alt_id: OMIM:179600
 xref: EFO:1001145;   ICD10CM:I73.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Raynaud disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase treatment ISO associated with Scleroderma, Systemic;protein:decreased activity:serum: RGD PMID:17401513 RGD:9479162 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO RGD PMID:25172934 RGD:155260370 NCBI chr10:30,975,639...30,987,955
Ensembl chr10:30,975,702...30,987,956 		JBrowse link
CREST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPC centromere protein C ISO associated with Anticentromere antibody positivity RGD PMID:25220385 RGD:27372886 NCBI chr 8:65,237,825...65,315,788
Ensembl chr 8:65,238,090...65,315,713 		JBrowse link
G FBN1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		JBrowse link
Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | ClinVar Annotator: match by term: HANAC-like syndrome OMIM
ClinVar		 PMID:1867713 PMID:3691802 PMID:7695699 PMID:8218237 PMID:9016532 More... NCBI chr11:76,858,332...76,997,409
Ensembl chr11:76,858,356...76,997,322 		JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:76,996,885...77,161,617
Ensembl chr11:76,997,516...77,161,614 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps ClinVar PMID:25741868 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673 		JBrowse link
Reynolds Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LBR lamin B receptor ISO ClinVar Annotator: match by term: PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA | ClinVar Annotator: match by term: Reynolds syndrome OMIM
ClinVar		 PMID:18382993 PMID:20522425 PMID:24033266 PMID:25348816 PMID:25741868 More... NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14909
      cardiovascular system disease 4337
        vascular disease 3060
          peripheral vascular disease 366
            Raynaud disease 8
              CREST syndrome 2
              Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps 3
              Reynolds Syndrome 1
paths to the root