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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:autonomic nervous system disease
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Accession:DOID:11465 term browser browse the term
Definition:Diseases of the parasympathetic or sympathetic divisions of the AUTONOMIC NERVOUS SYSTEM; which has components located in the CENTRAL NERVOUS SYSTEM and PERIPHERAL NERVOUS SYSTEM. Autonomic dysfunction may be associated with HYPOTHALAMIC DISEASES; BRAIN STEM disorders; SPINAL CORD DISEASES; and PERIPHERAL NERVOUS SYSTEM DISEASES. Manifestations include impairments of vegetative functions including the maintenance of BLOOD PRESSURE; HEART RATE; pupil function; SWEATING; REPRODUCTIVE AND URINARY PHYSIOLOGY; and DIGESTION.
Synonyms:exact_synonym: ANS (autonomic nervous system) diseases;   ANS Disease;   ANS Diseases;   AUTONOMIC NERVOUS SYSTEM DYSFUNCTION;   Autonomic Central Nervous System Diseases;   Autonomic Disease;   Autonomic Diseases;   Autonomic Nervous System Disorders;   Autonomic Peripheral Nervous System Diseases;   Disorders of the Autonomic Nervous System;   Parasympathetic Nervous System Diseases;   autonomic nervous system diseases;   autonomic nervous system disorder;   segmental autonomic dysfunction;   segmental autonomic dysfunctions;   sympathetic nervous system diseases
 primary_id: MESH:D001342
 alt_id: RDO:0000819
 xref: ICD9CM:337.1
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autonomic nervous system disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DRD4 dopamine receptor D4 ISO ClinVar Annotator: match by term: Autonomic nervous system dysfunction ClinVar PMID:7881421 NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...401,432
JBrowse link
G ECE1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9915973 NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,328...79,466,106
JBrowse link
G GIP gastric inhibitory polypeptide ISO associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human) RGD PMID:18376350 RGD:2312592 NCBI chr12:25,160,783...25,167,952
Ensembl chr12:25,160,789...25,167,940
JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655, PMID:14520668, PMID:14595656, PMID:14684687, PMID:15576045, PMID:16337195 NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266
JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit ISO OMIM NCBI chr 7:47,361,710...47,382,743
Ensembl chr 7:47,361,778...47,384,303
JBrowse link
congenital central hypoventilation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ASCL1 achaete-scute family bHLH transcription factor 1 ISO OMIM NCBI chr 5:81,357,431...81,360,335 JBrowse link
G BDNF brain derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation RGD
ClinVar
PMID:11840487, PMID:25741868 RGD:734643 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,623,268...32,679,164
JBrowse link
G EDN3 endothelin 3 ISO OMIM NCBI chr17:59,418,667...59,448,382
Ensembl chr17:59,425,495...59,448,362
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO OMIM NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 5:81,385,401...81,460,569
Ensembl chr 5:81,236,096...81,463,452
JBrowse link
G PHOX2B paired like homeobox 2B ISO OMIM NCBI chr 8:32,841,425...32,846,133
Ensembl chr 8:32,841,396...32,846,215
JBrowse link
G RET ret proto-oncogene ISO OMIM NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,415
JBrowse link
dopamine beta-hydroxylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DBH dopamine beta-hydroxylase ISO OMIM NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,400...273,225,558
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,904
JBrowse link
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ECE1 endothelin converting enzyme 1 ISO OMIM NCBI chr 6:79,408,322...79,465,827
Ensembl chr 6:79,408,328...79,466,106
JBrowse link
multiple system atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMBRA1 autophagy and beclin 1 regulator 1 ISO protein:increased expression:brain RGD PMID:27875637 RGD:14390070 NCBI chr 2:15,935,354...16,119,082
Ensembl chr 2:15,917,698...16,119,082
JBrowse link
G COQ2 coenzyme Q2, polyprenyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Multiple system atrophy
CTD
ClinVar
PMID:17420317, PMID:23758206, PMID:24988567, PMID:24988568, PMID:24988569 NCBI chr 8:135,130,486...135,150,428
Ensembl chr 8:135,130,479...135,155,348
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr14:100,927,305...100,954,781 JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chr16:22,936,602...22,965,929
Ensembl chr16:22,936,601...22,965,886
JBrowse link
G IGF2 insulin like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chr 2:1,469,183...1,496,417 JBrowse link
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 6:55,629,983...55,639,215
Ensembl chr 6:55,630,059...55,638,883
JBrowse link
G MAPT microtubule associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,368
JBrowse link
G MIR96 microRNA mir-96 ISO RNA:increased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chr18:18,982,506...18,982,590
Ensembl chr18:18,982,506...18,982,590
JBrowse link
G MT3 metallothionein 3 ISO protein: increased expression: visual cortex RGD PMID:20039155 RGD:6480516 NCBI chr 6:18,634,735...18,636,134
Ensembl chr 6:18,634,721...18,789,137
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chr 1:217,366,493...217,441,643
Ensembl chr 1:217,366,499...217,441,674
JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chr13:70,094,073...70,173,581
Ensembl chr13:70,094,079...70,173,547
JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chr 8:129,247,724...129,388,307
Ensembl chr 8:129,248,819...129,388,307
JBrowse link
Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NFASC neurofascin ISO OMIM NCBI chr 9:65,502,565...65,715,612
Ensembl chr 9:65,502,252...65,713,548
JBrowse link
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APTX aprataxin ISO DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chr10:33,470,089...33,495,584
Ensembl chr10:33,445,168...33,771,582
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr12:5,847,170...5,855,791
Ensembl chr12:5,847,170...5,855,583
JBrowse link
Orthostatic Hypotension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082591 NCBI chr 9:93,049,955...93,146,469 JBrowse link
G GNAS GNAS complex locus sussceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr17:58,985,580...59,053,022
Ensembl chr17:58,998,981...59,053,021
JBrowse link
G GNB3 G protein subunit beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr 5:63,863,656...63,871,352
Ensembl chr 5:63,863,661...63,870,433
JBrowse link
G ND2 NADH dehydrogenase subunit 2 ISO RGD PMID:10449650 RGD:1581056 NCBI chr MT:5,087...6,128
Ensembl chr MT:5,087...6,128
JBrowse link
G OPRD1 opioid receptor delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 6:85,775,576...85,827,170
Ensembl chr 6:85,785,227...85,825,592
JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 1:12,634,125...12,702,295
Ensembl chr 1:12,528,672...12,702,443
JBrowse link
Orthostatic Hypotension 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYB561 cytochrome b561 ISO OMIM NCBI chr12:15,435,973...15,447,104
Ensembl chr12:15,435,964...15,447,101
JBrowse link
Orthostatic Intolerance term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC6A2 solute carrier family 6 member 2 ISO OMIM NCBI chr 6:29,931,650...29,981,636
Ensembl chr 6:29,931,664...29,980,823
JBrowse link
paroxysmal extreme pain disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN9A sodium voltage-gated channel alpha subunit 9 ISO OMIM NCBI chr15:72,745,706...72,912,352
Ensembl chr15:72,748,692...72,912,407
JBrowse link
Primary Dysautonomias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC110255206 tryptase-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:27749843 NCBI chr 3:40,633,270...40,635,783 JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Dysautonomia ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25404053, PMID:25649381, PMID:25741868, PMID:26633545, PMID:26872967, PMID:28041643, PMID:28492532, PMID:29953849, PMID:30718709 NCBI chr10:5,825,591...6,662,733 JBrowse link
Riley-Day syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELP1 elongator acetyltransferase complex subunit 1 ISO OMIM NCBI chr 1:249,905,550...249,980,570
Ensembl chr 1:249,905,472...249,981,641
JBrowse link
Shy-Drager Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AVP arginine vasopressin ISO CTD Direct Evidence: marker/mechanism CTD PMID:6850280 NCBI chr17:32,581,234...32,583,145
Ensembl chr17:32,581,230...32,583,427
JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN2 ataxin 2 ISO OMIM NCBI chr14:32,656,537...32,772,082
Ensembl chr14:32,656,558...32,771,813
JBrowse link
Striatonigral Degeneration, Childhood-Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VAC14 VAC14 component of PIKFYVE complex ISO OMIM NCBI chr 6:13,683,800...13,791,246
Ensembl chr 6:13,683,799...13,791,241
JBrowse link
Striatonigral Degeneration, Infantile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL4I1 interleukin 4 induced 1 ISO ClinVar Annotator: match by term: Striatonigral degeneration infantile ClinVar PMID:16786527 NCBI chr 6:54,906,401...54,945,840
Ensembl chr 6:54,906,401...54,946,202
JBrowse link
G NUP62 nucleoporin 62 ISO OMIM NCBI chr 6:54,921,627...54,945,705
Ensembl chr 6:54,921,627...54,923,227
JBrowse link
Striatonigral Degeneration, Infantile, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6 ATP synthase F0 subunit 6 ISO ClinVar Annotator: match by term: Striatonigral degeneration, infantile, mitochondrial ClinVar PMID:7668837, PMID:8554662, PMID:9270604, PMID:9501263, PMID:9631394, PMID:17663470, PMID:22789932, PMID:23206802, PMID:24002810 NCBI chr MT:9,120...9,800
Ensembl chr MT:9,120...9,800
JBrowse link
Vasovagal Syncope term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NPPB natriuretic peptide B ISO associated with Syncope;protein:increased expression:serum: RGD PMID:23373852 RGD:7247623 NCBI chr 6:71,930,374...71,931,843
Ensembl chr 6:71,919,495...71,932,254
JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:60,186,559...60,313,098
Ensembl chr  X:59,998,607...60,313,069
JBrowse link
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:50,842,049...50,864,105
Ensembl chr  X:50,844,672...50,864,032
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO OMIM NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,709...124,357,642
JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,874...62,110,058
JBrowse link
G NHSL2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:57,741,172...58,028,266
Ensembl chr  X:57,742,066...58,030,951
JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,938...58,583,216
JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:90,553,099...90,565,001
Ensembl chr  X:90,558,757...90,566,449
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      nervous system disease 9943
        autonomic nervous system disease 54
          Adie syndrome 0
          Autonomic Dysreflexia 0
          Frey syndrome 0
          Harlequin Syndrome 0
          Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
          Motor Neuropathy Peripheral with Dysautonomia 0
          Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 1
          Plexosarcoma 0
          Primary Dysautonomias + 42
          autonomic neuropathy + 1
          complex regional pain syndrome + 0
          congenital central hypoventilation syndrome 7
          idiopathic peripheral autonomic neuropathy 0
          paroxysmal extreme pain disorder 1
Path 2
Term Annotations click to browse term
  disease 12641
    disease of anatomical entity 12177
      nervous system disease 9943
        peripheral nervous system disease 2386
          autonomic nervous system disease 54
            Adie syndrome 0
            Autonomic Dysreflexia 0
            Frey syndrome 0
            Harlequin Syndrome 0
            Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 1
            Motor Neuropathy Peripheral with Dysautonomia 0
            Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 1
            Plexosarcoma 0
            Primary Dysautonomias + 42
            autonomic neuropathy + 1
            complex regional pain syndrome + 0
            congenital central hypoventilation syndrome 7
            idiopathic peripheral autonomic neuropathy 0
            paroxysmal extreme pain disorder 1
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.