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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;   RDO:0006478
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by OMIM:610353
ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Seizures, benign familial infantile, 6
OMIM
ClinVar
CTD
PMID:16826524 PMID:18414213 PMID:19383498 PMID:24950454 PMID:25741868 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btbd9 BTB domain containing 9 ISO CTD Direct Evidence: marker/mechanism CTD 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18660810 NCBI chr 5:90,046,993...90,698,977
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 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        Neurologic Manifestations 5530
          sleep disorder 145
            Parasomnias 9
              Nocturnal Paroxysmal Dystonia 0
              REM Sleep Parasomnias + 0
              Sleep Arousal Disorders + 1
              Sleep Bruxism + 0
              Sleep-Wake Transition Disorders 0
              periodic limb movement disorder 0
              restless legs syndrome + 8
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              sleep disorder 145
                Parasomnias 9
                  Nocturnal Paroxysmal Dystonia 0
                  REM Sleep Parasomnias + 0
                  Sleep Arousal Disorders + 1
                  Sleep Bruxism + 0
                  Sleep-Wake Transition Disorders 0
                  periodic limb movement disorder 0
                  restless legs syndrome + 8
paths to the root