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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:23356498 PMID:20819234 RGD:10755728, RGD:10766439 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO mRNA:increased expression:lung (rat) RGD PMID:20810760 RGD:4145365 NCBI chr19:10,271,120...10,286,615
Ensembl chr19:10,271,093...10,286,615 		JBrowse link
G INHBB inhibin subunit beta B ISO mRNA:increased expression:kidney (rat) RGD PMID:15808645 RGD:9743920 NCBI chr 2:120,346,136...120,351,803
Ensembl chr 2:120,346,136...120,351,803 		JBrowse link
G ITGAM integrin subunit alpha M ISO protein:increased expression:neutrophil (rat) RGD PMID:18347540 RGD:329901924 NCBI chr16:31,259,975...31,332,877
Ensembl chr16:31,259,967...31,332,892 		JBrowse link
G MAP2K4 mitogen-activated protein kinase kinase 4 ISO RGD PMID:23157661 RGD:7495829 NCBI chr17:12,020,877...12,143,828
Ensembl chr17:12,020,829...12,143,830 		JBrowse link
G MAP2K6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:23157661 RGD:7495829 NCBI chr17:69,414,697...69,553,865
Ensembl chr17:69,414,697...69,553,865 		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 IAGP ClinVar Annotator: match by term: Episodic coma ClinVar PMID:28492532 NCBI chr 1:181,317,699...181,808,084
Ensembl chr 1:181,317,690...181,813,262 		JBrowse link
G CPS1 carbamoyl-phosphate synthase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8438805 NCBI chr 2:210,477,685...210,679,107
Ensembl chr 2:210,477,682...210,679,107 		JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene) EXP CTD Direct Evidence: marker/mechanism CTD PMID:18359183 NCBI chr22:42,126,499...42,130,810
Ensembl chr22:42,126,499...42,130,865 		JBrowse link
G GCG glucagon EXP CTD Direct Evidence: therapeutic CTD PMID:10464538 NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404 		JBrowse link
G OXT oxytocin/neurophysin I prepropeptide EXP CTD Direct Evidence: marker/mechanism CTD PMID:292422 PMID:5067144 PMID:19397503 NCBI chr20:3,071,620...3,072,517
Ensembl chr20:3,071,620...3,072,517 		JBrowse link
G TSHB thyroid stimulating hormone subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:24729111 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		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 EXP CTD Direct Evidence: therapeutic CTD PMID:8690305 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
Stupor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRH thyrotropin releasing hormone EXP CTD Direct Evidence: therapeutic CTD PMID:416961 PMID:8690305 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		JBrowse link
Syncope term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTL6A actin like 6A IAGP ClinVar Annotator: match by term: Syncope ClinVar PMID:19215055 PMID:25741868 PMID:28649782 PMID:31994175 NCBI chr 3:179,562,926...179,588,407
Ensembl chr 3:179,562,886...179,588,407 		JBrowse link
G ACTN2 actinin alpha 2 IAGP ClinVar Annotator: match by term: Syncope ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:26498160 PMID:26899768 More... NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G CTNNA3 catenin alpha 3 IAGP ClinVar Annotator: match by term: Syncope ClinVar NCBI chr10:65,912,523...67,763,594
Ensembl chr10:65,912,457...67,763,637 		JBrowse link
G DSP desmoplakin IAGP ClinVar Annotator: match by term: Syncope ClinVar PMID:25741868 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 IAGP ClinVar Annotator: match by term: Syncope ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr11:74,454,841...74,467,549
Ensembl chr11:74,454,841...74,467,729 		JBrowse link
G LIPT2 lipoyl(octanoyl) transferase 2 IAGP ClinVar Annotator: match by term: Syncope ClinVar PMID:11207363 PMID:12414843 PMID:14504341 PMID:15037716 PMID:15212652 More... NCBI chr11:74,490,519...74,493,724
Ensembl chr11:74,490,519...74,493,724 		JBrowse link
G LOC126862264 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:3293322-3294521 IAGP ClinVar Annotator: match by term: Syncope ClinVar PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More... NCBI chr16:3,243,322...3,244,521 JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP ClinVar Annotator: match by term: Syncope ClinVar PMID:9668175 PMID:10090880 PMID:10612841 PMID:10787450 PMID:10842288 More... NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G RYR2 ryanodine receptor 2 IAGP ClinVar Annotator: match by term: Syncope ClinVar NCBI chr 1:237,042,184...237,833,988
Ensembl chr 1:237,042,184...237,833,988 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Syncope ClinVar PMID:25741868 NCBI chr 3:38,548,062...38,649,687
Ensembl chr 3:38,548,057...38,649,743 		JBrowse link
G TTN titin IAGP ClinVar Annotator: match by term: Syncope ClinVar PMID:24033266 PMID:25741868 NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802 		JBrowse link
Unconsciousness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCK cholecystokinin EXP CTD Direct Evidence: marker/mechanism CTD PMID:6281507 NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185 		JBrowse link
G TRH thyrotropin releasing hormone EXP CTD Direct Evidence: therapeutic CTD PMID:6281507 NCBI chr 3:129,974,720...129,977,935
Ensembl chr 3:129,974,688...129,977,935 		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 IEP associated with Syncope;protein:increased expression:serum: RGD PMID:23373852 RGD:7247623 NCBI chr 1:11,857,464...11,858,945
Ensembl chr 1:11,857,464...11,858,945 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        Neurologic Manifestations 31894
          Neurobehavioral Manifestations 7994
            Consciousness Disorders 26
              Unconsciousness + 26
Path 2
Term Annotations click to browse term
  disease 97387
    disease of anatomical entity 91016
      nervous system disease 53022
        central nervous system disease 38426
          brain disease 36130
            disease of mental health 29578
              cognitive disorder 9871
                Consciousness Disorders 26
                  Unconsciousness + 26
paths to the root