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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:1537368, PMID:6243664, PMID:11159947, PMID:12752575, PMID:16098009, PMID:18628786, PMID:25741868, PMID:26622478, PMID:30311386 NCBI chr 7:143,937,198...143,956,668
Ensembl chr 7:143,937,199...143,956,668
JBrowse link
G Abat 4-aminobutyrate aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10407778 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:8651290, PMID:28492532, PMID:30311386 NCBI chr  X:157,073,860...157,095,652
Ensembl chr  X:157,072,736...157,095,274
JBrowse link
G Atxn7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr15:12,421,432...12,569,649
Ensembl chr15:12,425,175...12,513,931
JBrowse link
G Chrnb2 cholinergic receptor nicotinic beta 2 subunit ISO CTD Direct Evidence: therapeutic CTD PMID:23419392 NCBI chr 2:189,088,570...189,096,785
Ensembl chr 2:189,088,570...189,096,785
JBrowse link
G Col10a1 collagen type X alpha 1 chain ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:30311386 NCBI chr20:41,180,295...41,190,664
Ensembl chr20:41,184,287...41,189,633
JBrowse link
G Dync1h1 dynein cytoplasmic 1 heavy chain 1 ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:30311386 NCBI chr 6:134,958,854...135,085,769
Ensembl chr 6:134,958,854...135,085,769
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:28492532 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
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 3:48,557,696...48,604,097
Ensembl chr 3:48,557,696...48,604,097
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:25741868 NCBI chr 1:218,509,274...218,531,922
Ensembl chr 1:218,508,950...218,532,142
JBrowse link
G Kcnc1 potassium voltage-gated channel subfamily C member 1 ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:30311386 NCBI chr 1:102,414,352...102,456,718
Ensembl chr 1:102,414,625...102,456,411
JBrowse link
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:30311386 NCBI chr 5:154,909,003...154,965,171
Ensembl chr 5:154,909,003...154,965,171
JBrowse link
G Kdm5c lysine demethylase 5C ISO DNA:missense mutations, frameshift mutations:multiple (human) RGD PMID:18697827 RGD:9587807 NCBI chr  X:22,302,664...22,349,298
Ensembl chr  X:22,302,485...22,348,627
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:25741868, PMID:31488895 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Lemd3 LEM domain containing 3 ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:30311386 NCBI chr 7:62,976,671...63,045,860
Ensembl chr 7:62,996,336...63,045,728
JBrowse link
G Litaf lipopolysaccharide-induced TNF factor ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:28211240, PMID:28492532, PMID:30311386 NCBI chr10:4,753,546...4,763,272
Ensembl chr10:4,719,713...4,763,510
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:18425620, PMID:18946002, PMID:18957892, PMID:20008656, PMID:21326314, PMID:21531138, PMID:21840889, PMID:22492563, PMID:24088041, PMID:25025039, PMID:25741868, PMID:26307494, PMID:26382835, PMID:26633545, PMID:28492532, PMID:30311386 NCBI chr 5:164,684,244...164,715,414
Ensembl chr 5:164,684,509...164,714,145
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:28492532, PMID:30311386 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Nt5dc1 5'-nucleotidase domain containing 1 ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:30311386 NCBI chr20:41,106,990...41,209,765
Ensembl chr20:41,106,991...41,209,728
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:1679030, PMID:8889590, PMID:9399896, PMID:9521426, PMID:11461190, PMID:12501224, PMID:16879198, PMID:17935162, PMID:21147011, PMID:21953985, PMID:22513348, PMID:23430547, PMID:23500595, PMID:25596310, PMID:25741868, PMID:26322415, PMID:28492532, PMID:30311386 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Pdha1 pyruvate dehydrogenase E1 subunit alpha 1 ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:30311386 NCBI chr  X:37,329,779...37,343,410
Ensembl chr  X:37,329,779...37,343,410
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 Ptpn23 protein tyrosine phosphatase, non-receptor type 23 ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:30311386 NCBI chr 8:118,628,777...118,651,238
Ensembl chr 8:118,628,777...118,651,238
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:20839240, PMID:21911697, PMID:25658027, PMID:25735680, PMID:25741868, PMID:28492532, PMID:30311386, PMID:31680123 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:10581036, PMID:10947946, PMID:11992753, PMID:12359136, PMID:12794687, PMID:12794688, PMID:15510212, PMID:15516337, PMID:18695252, PMID:20301643, PMID:21781115, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:85,891,245...85,926,466
Ensembl chr 8:85,891,257...85,926,450
JBrowse link
G Smc3 structural maintenance of chromosomes 3 ISO ClinVar Annotator: match by term: Hyporeflexia ClinVar PMID:30311386 NCBI chr 1:274,310,120...274,352,856
Ensembl chr 1:274,309,758...274,352,854
JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Hyperreflexia ClinVar PMID:25741868, PMID:26374131, PMID:28492532, PMID:30311386 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170
JBrowse link
G Tacr2 tachykinin receptor 2 IMP RGD PMID:11342967 RGD:5147480 NCBI chr20:31,892,515...31,905,153
Ensembl chr20:31,892,515...31,905,153
JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:34,007,926...34,029,315
Ensembl chr 5:34,007,920...34,028,452
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
PMID:2842249, PMID:8496742, PMID:8733056, PMID:11020638, PMID:15260953, PMID:16632466, PMID:19652145, PMID:20576601, PMID:22534615, PMID:22842232, PMID:22850527, PMID:22924536, PMID:22933743, PMID:23409136, PMID:23483595, PMID:24088041, PMID:24100174, PMID:24123283, PMID:24431296, PMID:24436111, PMID:24468074, PMID:24523486, PMID:24631656, PMID:24739246, PMID:24793181, PMID:24842602, PMID:24996492, PMID:25056583, PMID:25326637, PMID:25359261, PMID:25447930, PMID:25523819, PMID:25656163, PMID:25681536, PMID:25741868, PMID:25895915, PMID:25996915, PMID:26297560, PMID:26400718, PMID:26410222, PMID:26453127, PMID:26633545, PMID:26993267, PMID:27091223, PMID:27268479, PMID:27634470, PMID:27726050, PMID:28293679, PMID:28441826, PMID:28492532, PMID:28500446, PMID:28708303, PMID:28849312, PMID:29066118, PMID:29184165, PMID:29305691, PMID:29397530, PMID:30071271, PMID:30311386, PMID:30657467, PMID:32581362, PMID:24468074 RGD:11576280 NCBI chr 1:81,852,423...81,881,565
Ensembl chr 1:81,852,429...81,881,549
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
ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
ClinVar Annotator: match by OMIM:614399
ClinVar Annotator: match by synonym: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
OMIM
ClinVar
PMID:17236770, PMID:22101682, PMID:22371254, PMID:23453856, PMID:23954233, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26802438, PMID:28492532, PMID:28498977 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Signs and Symptoms 5192
        Neurologic Manifestations 4137
          Abnormal Reflexes 31
            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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.