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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


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
ISS		 CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:17637780 NCBI chr20:8,286,337...8,645,567
Ensembl chr20:8,288,711...8,643,960 		JBrowse link
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720 		JBrowse link
G Drd3 dopamine receptor D3 ISS OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Meis1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17637780 PMID:28604731 NCBI chr14:93,155,426...93,294,373
Ensembl chr14:93,155,419...93,294,265 		JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664 		JBrowse link
G Ptprd protein tyrosine phosphatase, receptor type, D treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
protein:decreased expression:striatum (rat)		 CTD
RGD		 PMID:18660810 PMID:37633178 PMID:36053904 RGD:401976430, RGD:401976457 NCBI chr 5:90,046,993...90,698,977
NCBI chr 5:91,122,354...91,641,754
Ensembl chr 5:90,048,966...92,369,396 		JBrowse link
G Slc11a2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145 		JBrowse link
G Tf transferrin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      restless legs syndrome 8
        Restless Legs Syndrome 1 0
        Restless Legs Syndrome 2 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              sleep disorder 153
                Dyssomnias 129
                  Intrinsic Sleep Disorders 104
                    restless legs syndrome 8
                      Restless Legs Syndrome 1 0
                      Restless Legs Syndrome 2 0
paths to the root