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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:Parasomnias
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Accession:DOID:9004040 term browser browse the term
Definition:Movements or behaviors associated with sleep, sleep stages, or partial arousals from sleep that may impair sleep maintenance. Parasomnias are generally divided into four groups: arousal disorders, sleep-wake transition disorders, parasomnias of REM sleep, and nonspecific parasomnias. (From Thorpy, Sleep Disorders Medicine, 1994, p191)
Synonyms:exact_synonym: Benign Neonatal Sleep Myoclonus;   Parasomnia;   Sleep Drunkenness;   Sleep Drunkennesses;   Sleep Related Abnormal Swallowing Syndrome;   Sleep Sensory Paroxysm;   Sleep Sensory Paroxysms
 primary_id: MESH:D020447



show annotations for term's descendants           Sort by:
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:40,342,317...40,358,601
Ensembl chr15:40,342,317...40,358,601
JBrowse link
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 CTD
RGD
PMID:18660810 PMID:37633178 RGD:401976430 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
Sleep Bruxism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Htr2a 5-hydroxytryptamine receptor 2A susceptibility ISO DNA:SNP: :102T>C (rs6313) RGD PMID:22545912 RGD:401900300 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Neurologic Manifestations 9994
          sleep disorder 152
            Parasomnias 10
              Nocturnal Paroxysmal Dystonia 0
              REM Sleep Parasomnias + 0
              Sleep Arousal Disorders + 1
              Sleep Bruxism + 1
              Sleep-Wake Transition Disorders 0
              periodic limb movement disorder 0
              restless legs syndrome + 8
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        central nervous system disease 12373
          brain disease 11610
            disease of mental health 8277
              sleep disorder 152
                Parasomnias 10
                  Nocturnal Paroxysmal Dystonia 0
                  REM Sleep Parasomnias + 0
                  Sleep Arousal Disorders + 1
                  Sleep Bruxism + 1
                  Sleep-Wake Transition Disorders 0
                  periodic limb movement disorder 0
                  restless legs syndrome + 8
paths to the root