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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:restless legs syndrome
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Accession:DOID:0050425 term browser browse the term
Definition:A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. (DO)
Synonyms:exact_synonym: Ekbom syndrome;   PERIODIC LIMB MOVEMENTS IN SLEEP;   Restless Leg Syndrome;   Restless Legs;   WED;   Willis Ekbom Disease;   Willis Ekbom Syndrome;   Wittmaack Ekbom syndrome;   hereditary acromelalgia
 related_synonym: RLS3;   RLS4;   RLS5;   RLS6;   RLS7;   RLS8;   restless legs syndrome, susceptibility to, 3;   restless legs syndrome, susceptibility to, 4;   restless legs syndrome, susceptibility to, 5;   restless legs syndrome, susceptibility to, 6;   restless legs syndrome, susceptibility to, 7;   restless legs syndrome, susceptibility to, 8
 primary_id: MESH:D012148
 alt_id: OMIM:610438;   OMIM:610439;   OMIM:611185;   OMIM:611242;   OMIM:612853;   OMIM:615197
 xref: EFO:0004270;   GARD:11926;   ICD10CM:G25.81;   ICD9CM:333.94;   NCI:C84501;   OMIM:PS102300


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show annotations for term's descendants           Sort by:
restless legs syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btbd9 BTB domain containing 9 ISO CTD Direct Evidence: marker/mechanism
OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197
CTD
MouseDO
PMID:17637780 NCBI chrNW_004936476:20,953,377...21,351,925
Ensembl chrNW_004936476:20,953,347...21,351,255
JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chrNW_004936490:16,834,570...16,841,734
Ensembl chrNW_004936490:16,834,540...16,841,810
JBrowse link
G Drd3 dopamine receptor D3 ISO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chrNW_004936536:1,580,732...1,616,726
Ensembl chrNW_004936536:1,580,732...1,616,725
JBrowse link
G LOC101970831 serotransferrin ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16930377 PMID:23369046 RGD:7244177 NCBI chrNW_004936529:6,917,762...6,947,512
Ensembl chrNW_004936529:6,855,958...6,947,394
JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 PMID:28604731 NCBI chrNW_004936491:11,079,574...11,216,451
Ensembl chrNW_004936491:11,079,455...11,217,388
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chrNW_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109
JBrowse link
G Ptprd protein tyrosine phosphatase receptor type D treatment ISO CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum (rat)
CTD
RGD
PMID:18660810 PMID:36053904 PMID:37633178 RGD:401976430 RGD:401976457 NCBI chrNW_004936539:2,564,815...3,369,975
Ensembl chrNW_004936539:2,564,793...2,945,293
JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chrNW_004936512:8,590,302...8,622,121
Ensembl chrNW_004936512:8,586,262...8,623,597
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9443
      restless legs syndrome 8
        Restless Legs Syndrome 1 0
        Restless Legs Syndrome 2 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      nervous system disease 12321
        central nervous system disease 11034
          brain disease 10356
            disease of mental health 7436
              sleep disorder 143
                Dyssomnias 119
                  Intrinsic Sleep Disorders 96
                    restless legs syndrome 8
                      Restless Legs Syndrome 1 0
                      Restless Legs Syndrome 2 0
paths to the root