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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 ECE1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9915973 NCBI chr 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
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 chr 9:25,167,938...25,174,402
Ensembl chr 9:25,167,926...25,174,575
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:13,582...14,109
Ensembl chr MT:13,582...14,109
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 chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246
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 chr15:41,694,021...41,696,933
Ensembl chr15:41,694,269...41,695,391
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 chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G EDN3 endothelin 3 ISO OMIM NCBI chr24:44,024,553...44,054,727
Ensembl chr24:44,033,419...44,054,050
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO OMIM NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G PAH phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr15:41,590,253...41,670,156
Ensembl chr15:41,592,876...41,670,837
JBrowse link
G PHOX2B paired like homeobox 2B ISO OMIM NCBI chr13:38,865,963...38,869,912
Ensembl chr13:38,865,995...38,869,854
JBrowse link
G RET ret proto-oncogene ISO OMIM NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
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 9:50,004,806...50,024,130
Ensembl chr 9:50,004,806...50,024,130
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chr 9:57,850,870...57,855,607
Ensembl chr 9:57,850,922...57,855,257
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 2:77,732,645...77,793,950
Ensembl chr 2:77,678,686...77,792,114
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 chr18:42,903,815...43,073,918
Ensembl chr18:42,932,513...43,072,827
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 chr32:7,143,476...7,162,765
Ensembl chr32:7,139,126...7,162,764
JBrowse link
G FAS Fas cell surface death receptor ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
JBrowse link
G GDNF glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chr 4:70,966,694...70,991,860
Ensembl chr 4:70,971,432...70,989,714
JBrowse link
G IGF2 insulin like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chr18:46,294,036...46,311,982
Ensembl chr18:46,294,019...46,311,982
JBrowse link
G KLK6 kallikrein related peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chr 1:105,902,147...105,907,585 JBrowse link
G MAPT microtubule associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
JBrowse link
G MIR96 microRNA mir-96 ISO RNA:increased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chr14:7,068,754...7,068,842
Ensembl chr14:7,068,754...7,068,842
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
JBrowse link
G SLC6A6 solute carrier family 6 member 6 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chr20:4,544,739...4,616,797
Ensembl chr20:4,531,771...4,620,605
JBrowse link
G SNCA synuclein alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chr32:12,915,871...13,079,338
Ensembl chr32:12,916,215...13,060,383
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 chr38:1,367,128...1,546,909
Ensembl chr38:1,366,251...1,543,630
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 chr11:50,111,003...50,155,937
Ensembl chr11:50,113,073...50,132,284
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 chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
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 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12082591 NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
JBrowse link
G GNAS GNAS complex locus sussceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
JBrowse link
G GNB3 G protein subunit beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763
JBrowse link
G MT-ND2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO RGD PMID:10449650 RGD:1581056 NCBI chr MT:3,914...4,955
Ensembl chr MT:3,914...4,957
JBrowse link
G OPRD1 opioid receptor delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 2:71,685,129...71,721,692
Ensembl chr 2:71,689,084...71,721,875
JBrowse link
G OPRM1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chr 1:43,972,915...44,037,477
Ensembl chr 1:43,972,219...44,141,238
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 chr 9:11,461,738...11,474,413
Ensembl chr 9:11,463,585...11,468,282
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 2:60,319,304...60,362,532
Ensembl chr 2:60,318,999...60,363,120
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 chr36:11,287,358...11,382,897
Ensembl chr36:11,290,625...11,383,255
JBrowse link
Primary Dysautonomias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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 chr11:64,035,667...64,094,402
Ensembl chr11:64,037,506...64,093,819
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 chr24:18,183,057...18,184,827
Ensembl chr24:18,183,057...18,184,883
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 chr26:9,073,667...9,188,429
Ensembl chr26:9,073,809...9,188,414
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 5:76,635,931...76,737,414
Ensembl chr 5:76,636,355...76,737,353
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 1:106,636,282...106,673,438
Ensembl chr 1:106,657,477...106,673,422
JBrowse link
G NUP62 nucleoporin 62 ISO OMIM NCBI chr 1:106,636,282...106,661,250 JBrowse link
Striatonigral Degeneration, Infantile, Mitochondrial term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ATP6 mitochondrially encoded ATP synthase membrane 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:7,964...8,644
Ensembl chr MT:7,964...8,644
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 2:84,395,844...84,397,473 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:58,305,804...58,470,827
Ensembl chr  X:58,306,776...58,471,417
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:49,426,228...49,449,448 JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO OMIM NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609
JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
JBrowse link
G NHSL2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:56,078,560...56,203,105
Ensembl chr  X:55,954,435...56,197,319
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:56,579,538...56,758,293
Ensembl chr  X:56,581,435...56,757,905
JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:83,639,071...83,650,359
Ensembl chr  X:83,643,872...83,650,356
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12699
    disease of anatomical entity 12239
      nervous system disease 10001
        autonomic nervous system disease 51
          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 + 40
          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 12699
    disease of anatomical entity 12239
      nervous system disease 10001
        peripheral nervous system disease 2397
          autonomic nervous system disease 51
            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 + 40
            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.