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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:quadriplegia
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Accession:DOID:12835 term browser browse the term
Definition:Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts.
Synonyms:exact_synonym: Flaccid Quadriplegia;   Flaccid Tetraplegia;   Flaccid Tetraplegias;   Paralysis, Spinal, Quadriplegic;   Quadripareses;   Quadriparesis;   Quadriplegias;   Spastic Quadriplegia;   Spastic Quadriplegias;   Spastic Tetraplegia;   Spastic Tetraplegias;   Tetraplegia;   flaccid quadriplegias;   tetraplegias
 primary_id: MESH:D011782
 xref: EFO:0009684;   ICD10CM:G82.5;   ICD9CM:344.00;   NCI:C50721
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
quadriplegia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Quadriparesis ClinVar PMID:15260953 PMID:22842232 PMID:22850527 PMID:23409136 PMID:24100174 More... NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
G Il6 interleukin 6 susceptibility ISO associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human) RGD PMID:23415255 RGD:12792240 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr10:48,294,932...48,324,941
Ensembl chr10:48,297,437...48,324,940 		JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:107,215,626...107,372,398
Ensembl chr10:107,215,633...107,372,402 		JBrowse link
Ichthyosis, Spastic Quadriplegia, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar		 PMID:5048218 PMID:11138005 PMID:22100072 PMID:23509295 PMID:24566826 More... NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:93,582,930...93,609,678 		JBrowse link
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmc1 proteasome 26S subunit, ATPase 1 ISO OMIM NCBI chr 6:125,122,497...125,134,859
Ensembl chr 6:125,122,490...125,134,858 		JBrowse link
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