Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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: 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:24088041 PMID:24100174 PMID:24431296 PMID:24631656 PMID:24842602 PMID:25523819 PMID:25681536 PMID:25741868 PMID:25996915 PMID:26410222 PMID:26417536 PMID:26633545 PMID:28293679 PMID:28492532 PMID:32581362 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Spastic tetraplegia ClinVar PMID:25741868 NCBI chr  X:156,999,803...157,008,735
Ensembl chr  X:156,999,826...157,008,733
JBrowse link
G Il6 interleukin 6 susceptibility ISO associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human) RGD PMID:23415255 RGD:12792240 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr10:49,538,588...49,568,583
Ensembl chr10:49,538,588...49,568,583
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
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 OMIM:614457
ClinVar Annotator: match by term: Ichthyosis, spastic quadriplegia, and mental retardation
OMIM
ClinVar
PMID:22100072 PMID:25326635 PMID:25741868 NCBI chr 8:91,310,690...91,338,625
Ensembl chr 8:91,310,630...91,338,843
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        central nervous system disease 10373
          quadriplegia 6
            Absent Eyebrows and Eyelashes with Mental Retardation 0
            Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
            Microcephaly with Spastic Quadriplegia 0
            Opticocochleodentate Degeneration 0
            Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 0
            locked-in syndrome 0
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        Neurologic Manifestations 5429
          Paralysis 284
            quadriplegia 6
              Absent Eyebrows and Eyelashes with Mental Retardation 0
              Ichthyosis, Spastic Quadriplegia, and Mental Retardation 1
              Microcephaly with Spastic Quadriplegia 0
              Opticocochleodentate Degeneration 0
              Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 0
              locked-in syndrome 0
paths to the root