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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


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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 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr25:30,117,384...30,137,223
Ensembl chr25:30,117,239...30,135,599 		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 CTD Direct Evidence: marker/mechanism
OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197		 CTD
MouseDO		 PMID:17637780 NCBI chr12:7,154,805...7,564,050
Ensembl chr12:7,154,925...7,564,017 		JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase ISO protein:decreased expression:brain RGD PMID:21570342 RGD:6483334 NCBI chr 9:20,888,350...20,896,139
Ensembl chr 9:20,886,574...20,896,079 		JBrowse link
G DRD3 dopamine receptor D3 ISO OMIM:102300 | OMIM:610438 | OMIM:610439 | OMIM:611185 | OMIM:611242 | OMIM:612853 | OMIM:615197 MouseDO NCBI chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277 		JBrowse link
G LOC477072 serotransferrin ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:16930377 PMID:23369046 RGD:7244177 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845 		JBrowse link
G MEIS1 Meis homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:17637780 PMID:28604731 NCBI chr10:65,765,498...65,898,714
Ensembl chr10:65,683,560...65,897,573 		JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18464280 NCBI chr17:19,431,396...19,438,247
Ensembl chr17:19,431,585...19,434,440 		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 chr11:29,100,913...31,278,495
Ensembl chr11:29,104,448...29,501,600 		JBrowse link
G SLC11A2 solute carrier family 11 member 2 ISO mRNA, protein:increased expression:pons, thalamus RGD PMID:21710629 RGD:5688410 NCBI chr27:3,788,785...3,823,852
Ensembl chr27:3,787,855...3,822,672 		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 chr22:4,453,715...4,510,934
Ensembl chr22:4,453,715...4,511,037 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15674
    disease of anatomical entity 15314
      nervous system disease 13404
        Neurologic Manifestations 9867
          sleep disorder 147
            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 15674
    disease of anatomical entity 15314
      nervous system disease 13404
        central nervous system disease 12032
          brain disease 11304
            disease of mental health 8175
              sleep disorder 147
                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