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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:An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress.
Synonyms:exact_synonym: Raynaud Phenomenon;   Raynaud's disease;   Raynaud's syndrome;   Raynauds disease;   hereditary cold fingers
 primary_id: MESH:D011928
 alt_id: OMIM:179600;   RDO:0006458
 xref: 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 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16977343 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16977343 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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 chr14:23,611,909...23,670,314
Ensembl chr14:23,611,735...23,670,475
JBrowse link
G Fbn1 fibrillin 1 ISO RGD PMID:10395706 RGD:12910471 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
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 OMIM:611773
OMIM
ClinVar
PMID:17030722, PMID:18077766, PMID:18160688, PMID:19477666, PMID:20385946, PMID:20733150, PMID:20818663, PMID:21527998, PMID:21625620, PMID:22522439, PMID:22574627, PMID:25228067, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
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 NCBI chr16:83,386,388...83,522,169
Ensembl chr16:83,387,364...83,438,561
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: Reynolds syndrome OMIM
ClinVar
PMID:20522425, PMID:25741868 NCBI chr13:100,431,390...100,450,209 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        vascular disease 3354
          peripheral vascular disease 246
            Raynaud disease 8
              CREST syndrome 2
              Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps 2
              Reynolds Syndrome 1
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.