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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 NCBI chr22:16,388,368...16,401,289
Ensembl chr22:34,230,825...34,244,063 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (rat) RGD PMID:20810760 RGD:4145365 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605 		JBrowse link
G INHBB inhibin subunit beta B ISO mRNA:increased expression:kidney (rat) RGD PMID:15808645 RGD:9743920 NCBI chr2B:7,278,944...7,284,632 JBrowse link
G ITGAM integrin subunit alpha M ISO protein:increased expression:neutrophil (rat) RGD PMID:18347540 RGD:329901924 NCBI chr16:23,634,476...23,707,147
Ensembl chr16:31,630,146...31,702,406 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO RGD PMID:23157661 RGD:7495829 NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:23157661 RGD:7495829 NCBI chr17:63,342,720...63,483,926
Ensembl chr17:68,730,011...68,870,454 		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 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8438805 NCBI chr2B:97,735,486...97,936,623
Ensembl chr2B:216,136,857...216,337,728 		JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:10464538 NCBI chr2B:49,436,379...49,446,559
Ensembl chr2B:166,806,016...166,811,155 		JBrowse link
G LOC100988273 cytochrome P450 2D6-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18359183 NCBI chr22:23,022,449...23,031,627 JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:292422 PMID:5067144 PMID:19397503 NCBI chr20:3,157,246...3,159,013 JBrowse link
G TSHB thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24729111 NCBI chr 1:87,527,267...87,531,813
Ensembl chr 1:122,575,546...122,580,028 		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 chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736 		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 chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736 		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 chr 3:176,595,149...176,620,556
Ensembl chr 3:184,765,523...184,790,983 		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 chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Syncope ClinVar NCBI chr10:62,388,454...64,177,116
Ensembl chr10:64,712,576...66,442,238 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:25741868 NCBI chr 6:7,381,046...7,426,408
Ensembl chr 6:7,664,211...7,709,391 		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 chr11:69,527,663...69,540,236
Ensembl chr11:72,835,048...72,835,359 		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 chr11:69,564,555...69,566,759
Ensembl chr11:72,869,834...72,872,050 		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 chr16:2,175,858...2,191,056
Ensembl chr16:3,353,666...3,368,970 		JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Syncope ClinVar NCBI chr 1:212,600,198...213,387,312
Ensembl chr 1:217,815,676...218,383,509 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:25741868 NCBI chr 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:24033266 PMID:25741868 NCBI chr2B:65,783,512...66,064,618 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 chr 3:42,168,012...42,176,358
Ensembl chr 3:42,431,022...42,439,396 		JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:6281507 NCBI chr 3:127,037,069...127,041,299
Ensembl chr 3:134,383,016...134,387,736 		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 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      nervous system disease 13566
        Neurologic Manifestations 10032
          Neurobehavioral Manifestations 4701
            Consciousness Disorders 25
              Unconsciousness + 25
Path 2
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      nervous system disease 13566
        central nervous system disease 12125
          brain disease 11399
            disease of mental health 8231
              cognitive disorder 2165
                Consciousness Disorders 25
                  Unconsciousness + 25
paths to the root