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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:Consciousness Disorders
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Accession:DOID:9000484 term browser browse the term
Definition:Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition.
Synonyms:exact_synonym: Altered Level of Consciousness;   Consciousness Disorder;   Consciousness, Level Altered;   Consciousness, Level Depressed;   Depressed Level of Consciousness;   Semiconsciousness
 primary_id: MESH:D003244


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Brain Death term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 treatment ISO mRNA, protein:increased expression:kidney RGD PMID:20819234 PMID:23356498 RGD:10755728 RGD:10766439
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (rat) RGD PMID:20810760 RGD:4145365 NCBI chr 2:69,097,136...69,107,722
Ensembl chr 2:69,097,122...69,108,205 		JBrowse link
G INHBB inhibin subunit beta B ISO mRNA:increased expression:kidney (rat) RGD PMID:15808645 RGD:9743920 NCBI chr15:30,999,994...31,004,405
Ensembl chr15:30,999,520...31,004,405 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO RGD PMID:23157661 RGD:7495829 NCBI chr12:56,402,029...56,516,217
Ensembl chr12:56,402,075...56,516,238 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:23157661 RGD:7495829 NCBI chr12:10,891,445...11,018,617
Ensembl chr12:10,894,966...11,018,641 		JBrowse link
Coma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Episodic coma ClinVar PMID:28492532 NCBI chr 9:122,827,386...123,318,372
Ensembl chr 9:123,006,195...123,315,319 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8438805 NCBI chr15:113,210,038...113,339,086
Ensembl chr15:113,150,157...113,339,078 		JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18359183 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642 		JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:10464538 NCBI chr15:68,800,557...68,810,268
Ensembl chr15:68,800,560...68,810,242 		JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:292422 PMID:5067144 PMID:19397503 NCBI chr17:32,605,586...32,606,449
Ensembl chr17:32,605,586...32,606,546 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24729111 NCBI chr 4:105,553,070...105,558,769
Ensembl chr 4:105,553,076...105,554,015 		JBrowse link
Post-Head Injury Coma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:8690305 NCBI chr13:69,362,892...69,366,183
Ensembl chr13:69,364,093...69,365,493 		JBrowse link
Stupor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:416961 PMID:8690305 NCBI chr13:69,362,892...69,366,183
Ensembl chr13:69,364,093...69,365,493 		JBrowse link
Syncope term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6A actin like 6A ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr13:117,598,415...117,627,311
Ensembl chr13:117,598,496...117,628,488 		JBrowse link
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:26899768 More... NCBI chr14:54,670,727...54,742,717
Ensembl chr14:54,666,623...54,742,778 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Syncope ClinVar NCBI chr14:69,195,231...70,974,543
Ensembl chr14:69,195,961...70,938,204 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:25741868 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr 9:8,810,716...8,822,191
Ensembl chr 9:8,810,720...8,822,494 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr 9:8,838,375...8,840,607
Ensembl chr 9:8,838,102...8,840,765 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More... NCBI chr 3:38,934,573...38,948,609 JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Syncope ClinVar NCBI chr14:53,652,140...54,406,691
Ensembl chr14:53,652,485...54,192,063 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:25741868 NCBI chr13:23,336,143...23,424,755
Ensembl chr13:23,336,153...23,424,755 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:24033266 PMID:25741868 NCBI chr15:84,226,953...84,501,320 JBrowse link
Unconsciousness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCK cholecystokinin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6281507 NCBI chr13:25,940,674...25,945,879
Ensembl chr13:25,937,645...25,945,793 		JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:6281507 NCBI chr13:69,362,892...69,366,183
Ensembl chr13:69,364,093...69,365,493 		JBrowse link
Vasovagal Syncope term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPPB natriuretic peptide B ISO associated with Syncope;protein:increased expression:serum: RGD PMID:23373852 RGD:7247623 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,930,382...71,932,254 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15390
    disease of anatomical entity 15084
      nervous system disease 13224
        Neurologic Manifestations 9793
          Neurobehavioral Manifestations 4547
            Consciousness Disorders 24
              Unconsciousness + 24
Path 2
Term Annotations click to browse term
  disease 15390
    disease of anatomical entity 15084
      nervous system disease 13224
        central nervous system disease 11810
          brain disease 11093
            disease of mental health 8000
              cognitive disorder 2117
                Consciousness Disorders 24
                  Unconsciousness + 24
paths to the root