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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: 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 Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: Spastic tetraplegia ClinVar PMID:25741868 NCBI chr  X:151,515,244...151,524,175
Ensembl chr  X:151,515,247...151,524,171
JBrowse link
G Il6 interleukin 6 susceptibility ISO associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human) RGD PMID:23415255 RGD:12792240 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Isca2 iron-sulfur cluster assembly 2 ISO ClinVar Annotator: match by term: Spastic quadriplegia ClinVar PMID:25434003 PMID:25539947 PMID:25558065 PMID:25741868 PMID:28492532 More... NCBI chr 6:104,418,509...104,420,019
Ensembl chr 6:104,418,454...104,420,045
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12427913 NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714
JBrowse link
G Tbcd tubulin folding cofactor D ISO CTD Direct Evidence: marker/mechanism CTD PMID:27666370 NCBI chr10:106,717,340...106,874,126
Ensembl chr10:106,717,367...106,874,122
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 mental retardation OMIM
ClinVar
PMID:22100072 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr 8:84,702,916...84,729,466
Ensembl chr 8:84,702,362...84,729,697
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          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 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        Neurologic Manifestations 6142
          Paralysis 371
            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