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
Accession: DOID:9005219
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; Moro Reflex, Asymmetric; 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; Triceps Reflex, Abnormal; Triceps Reflex, Absent; Triceps Reflex, Decreased
primary_id: MESH:D012021
alt_id: MIM:145290
G
Aaas
aladin WD repeat nucleoporin
ISO
ClinVar Annotator: match by term: Hyperreflexia
ClinVar
PMID:11159947 PMID:12752575 PMID:18172684 PMID:22538409 PMID:25741868 PMID:26243364 PMID:28492532 PMID:29255950 PMID:30455725 More...
NCBI chr 7:133,464,315...133,483,961
Ensembl chr 7:133,464,315...133,483,961
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
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
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
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
G
Ifih1
interferon induced with helicase C domain 1
ISO
ClinVar Annotator: match by term: Hyperreflexia
ClinVar
PMID:24686847 PMID:24995871 PMID:25741868 PMID:26833990 PMID:28492532 PMID:31898846 More...
NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
G
Ighmbp2
immunoglobulin mu DNA binding protein 2
ISO
ClinVar Annotator: match by term: Hyperreflexia
ClinVar
PMID:14681881 PMID:25326637 PMID:25439726 PMID:25568292 PMID:25741868 PMID:28492532 More...
NCBI chr 1:200,506,641...200,529,293
Ensembl chr 1:200,506,338...200,529,514
G
Ins1
insulin 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3525850
NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:251,244,973...251,245,536
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
G
Kif1a
kinesin family member 1A
ISO
ClinVar Annotator: match by term: Hyperreflexia
ClinVar
PMID:25741868 PMID:28492532 PMID:31488895
NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480
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
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
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
G
Atp1a3
ATPase Na+/K+ transporting subunit alpha 3
ISO
DNA:missense mutation:exon:p.E818K (c.2452G>A) (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CAPOS syndrome | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
OMIM CTD ClinVar RGD
PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 PMID:20301294 PMID:20576601 PMID:21911500 PMID:22842232 PMID:22850527 PMID:22924536 PMID:23409136 PMID:23483595 PMID:24100174 PMID:24431296 PMID:24468074 PMID:24523486 PMID:24631656 PMID:24793181 PMID:24842602 PMID:24996492 PMID:25056583 PMID:25326637 PMID:25447930 PMID:25523819 PMID:25656163 PMID:25681536 PMID:25741868 PMID:25895915 PMID:25996915 PMID:26400718 PMID:26410222 PMID:26417536 PMID:26453127 PMID:26467025 PMID:26633545 PMID:26993267 PMID:27268479 PMID:27577505 PMID:27634470 PMID:27726050 PMID:28293679 PMID:28441826 PMID:28492532 PMID:28500446 PMID:28637637 PMID:28647130 PMID:28708303 PMID:28849312 PMID:28901192 PMID:29066118 PMID:29397530 PMID:30071271 PMID:30577886 PMID:30657467 PMID:31361359 PMID:31737037 PMID:31942761 PMID:32581362 PMID:32883312 PMID:34008892 PMID:34342181 PMID:34459253 PMID:35047275 PMID:35945798 PMID:36192182 PMID:24468074 More...
RGD:11576280
NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
G
Megf10
multiple EGF-like domains 10
ISO
ClinVar Annotator: match by term: MEGF10-related myopathy
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 PMID:22371254 PMID:23453856 PMID:23954233 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26802438 PMID:28492532 PMID:28498977 PMID:31127727 PMID:31501239 PMID:35370044 PMID:36349186 More...
NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456
G
Kif5c
kinesin family member 5C
ISO
ClinVar Annotator: match by term: Jaw-winking syndrome
ClinVar
PMID:25741868
NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
G
Myh10
myosin heavy chain 10
ISO
ClinVar Annotator: match by term: Jaw-winking syndrome
ClinVar
PMID:25741868
NCBI chr10:53,393,901...53,525,174
Ensembl chr10:53,394,389...53,525,165
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all