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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:Abnormal Reflexes
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Accession:DOID:9005219 term browser browse the term
Definition:An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
Synonyms:exact_synonym: Abnormal Deep Tendon Reflex;   Abnormal Reflex;   Absent Reflex;   Bulbocavernousus Reflex Absent;   Decreased Bulbocavernosus Reflex;   Decreased Reflex;   HRX;   Hoffman's Reflex;   Hyperreflexia;   Hyporeflexia;   Palmo Mental Reflex;   Pendular Reflex;   Reflex, Acoustic, Abnormal;   Reflex, Anal, Absent;   Reflex, Anal, Decreased;   Reflex, Ankle, Abnormal;   Reflex, Ankle, Absent;   Reflex, Ankle, Decreased;   Reflex, Biceps, Abnormal;   Reflex, Biceps, Absent;   Reflex, Biceps, Decreased;   Reflex, Corneal, Absent;   Reflex, Corneal, Decreased;   Reflex, Deep Tendon, Absent;   Reflex, Gag, Absent;   Reflex, Gag, Decreased;   Reflex, Knee, Abnormal;   Reflex, Knee, Decreased;   Reflex, Moro, Asymmetric;   Reflex, Triceps, Abnormal;   Reflex, Triceps, Absent;   Reflex, Triceps, Decreased
 primary_id: MESH:D012021;   RDO:0000425
 alt_id: OMIM:145290
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Abnormal Reflexes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aaas aladin WD repeat nucleoporin ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:11159947 PMID:12752575 PMID:25741868 NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
JBrowse link
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10407778 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Atxn7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr15:11,117,360...11,262,818
Ensembl chr15:11,118,886...11,263,106
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: therapeutic CTD PMID:23419392 NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:28492532 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:24686847 PMID:24995871 PMID:25741868 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:25741868 NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
JBrowse link
G Kdm5c lysine demethylase 5C ISO DNA:missense mutations, frameshift mutations:multiple (human) RGD PMID:18697827 RGD:9587807 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:25741868 PMID:31488895 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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 Tacr2 tachykinin receptor 2 IMP RGD PMID:11342967 RGD:5147480 NCBI chr20:30,208,907...30,223,446
Ensembl chr20:30,208,907...30,223,446
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
ClinVar Annotator: match by term: CAPOS syndrome
ClinVar
OMIM
RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:19652145 PMID:20576601 More... RGD:11576280 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like domains 10 ISO ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
ClinVar Annotator: match by OMIM:614399
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 More... NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Pathological Conditions, Signs and Symptoms 10254
      Signs and Symptoms 6509
        Neurologic Manifestations 5456
          Abnormal Reflexes 14
            Bahemuka Brown syndrome 0
            CAPOS Syndrome 1
            External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation 0
            early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
            jaw-winking syndrome 0
paths to the root