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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 chr19:18,144,466...18,157,944
Ensembl chr19:18,144,545...18,157,971 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (rat) RGD PMID:20810760 RGD:4145365 NCBI chr 6:9,320,991...9,338,125
Ensembl chr 6:9,322,550...9,338,263 		JBrowse link
G INHBB inhibin subunit beta B ISO mRNA:increased expression:kidney (rat) RGD PMID:15808645 RGD:9743920 NCBI chr10:9,943,015...9,948,721 JBrowse link
G ITGAM integrin subunit alpha M ISO protein:increased expression:neutrophil (rat) RGD PMID:18347540 RGD:329901924 NCBI chr 5:27,957,162...28,042,697
Ensembl chr 5:27,957,324...28,042,691 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO RGD PMID:23157661 RGD:7495829 NCBI chr16:11,366,610...11,485,411
Ensembl chr16:11,366,751...11,486,125 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:23157661 RGD:7495829 NCBI chr16:52,045,398...52,188,416
Ensembl chr16:52,057,784...52,187,997 		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 chr25:47,589,859...47,924,081
Ensembl chr25:47,597,808...47,922,969 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8438805 NCBI chr10:96,267,890...96,392,393
Ensembl chr10:96,267,889...96,392,206 		JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18359183 NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513 		JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:10464538 NCBI chr10:47,550,097...47,560,610 JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:292422 PMID:5067144 PMID:19397503 NCBI chr 2:33,749,520...33,750,981
Ensembl chr 2:33,750,108...33,750,968 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24729111 NCBI chr20:18,660,683...18,665,226
Ensembl chr20:18,657,535...18,665,185 		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 chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236 		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 chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236 		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 chr15:9,838,609...9,863,439
Ensembl chr15:9,837,274...9,863,430 		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 chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146 		JBrowse link
G CTNNA3 catenin alpha 3 ISO ClinVar Annotator: match by term: Syncope ClinVar NCBI chr 9:63,669,561...65,406,737 JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:25741868 NCBI chr17:64,611,243...64,656,297
Ensembl chr17:64,611,103...64,656,366 		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 1:65,699,558...65,710,305
Ensembl chr 1:65,700,156...65,700,467 		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 1:65,731,258...65,733,803
Ensembl chr 1:65,731,969...65,733,563 		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 5:2,971,323...2,991,501 JBrowse link
G RYR2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Syncope ClinVar NCBI chr25:74,169,024...74,951,371
Ensembl chr25:74,389,122...74,953,451 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:25741868 NCBI chr15:767,854...869,787
Ensembl chr15:794,963...867,457 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Syncope ClinVar PMID:24033266 PMID:25741868 NCBI chr10:64,074,994...64,379,055
Ensembl chr10:64,076,021...64,347,205 		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 chr22:3,698,192...3,705,443
Ensembl chr22:3,698,173...3,704,956 		JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: therapeutic CTD PMID:6281507 NCBI chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236 		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 chr20:119,930,931...119,933,391
Ensembl chr20:119,932,021...119,933,197 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        Neurologic Manifestations 9796
          Neurobehavioral Manifestations 4564
            Consciousness Disorders 25
              Unconsciousness + 25
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13213
        central nervous system disease 11794
          brain disease 11073
            disease of mental health 7954
              cognitive disorder 2083
                Consciousness Disorders 25
                  Unconsciousness + 25
paths to the root