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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.


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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 chrNW_004936888:468,334...471,254 JBrowse link
G Ece1 endothelin converting enzyme 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9915973 NCBI chrNW_004936474:7,034,134...7,083,005 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 chrNW_004936490:12,487,025...12,492,214 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 chrNW_004936471:36,427,598...36,447,903 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 chrNW_004936492:11,315,929...11,317,166 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 chrNW_004936540:5,530,081...5,582,765 JBrowse link
G Edn3 endothelin 3 ISO OMIM NCBI chrNW_004936530:1,744,216...1,766,602 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO OMIM NCBI chrNW_004936518:4,291,391...4,310,752 JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chrNW_004936492:11,342,566...11,412,323 JBrowse link
G Phox2b paired like homeobox 2B ISO OMIM NCBI chrNW_004936482:8,972,433...8,975,284 JBrowse link
G Ret ret proto-oncogene ISO OMIM NCBI chrNW_004936617:2,927,185...2,980,594 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 chrNW_004936669:3,302,014...3,326,233 JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO RGD PMID:21209083 RGD:5685690 NCBI chrNW_004936487:13,348,465...13,352,717 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 chrNW_004936474:7,034,134...7,083,005 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 chrNW_004936562:2,493,823...2,676,868 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 chrNW_004936738:1,354,424...1,371,497 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:precentral gyrus (human) RGD PMID:23372841 RGD:8663486 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO RGD PMID:22281106 RGD:5688775 NCBI chrNW_004936518:4,291,391...4,310,752 JBrowse link
G Igf2 insulin like growth factor 2 severity ISO RGD PMID:20683839 RGD:5509960 NCBI chrNW_004936816:972,902...981,232 JBrowse link
G Klk6 kallikrein related peptidase 6 ISO RGD PMID:12928483 RGD:1358597 NCBI chrNW_004936889:621,645...628,454 JBrowse link
G Mapt microtubule associated protein tau ISO ClinVar Annotator: match by term: Multiple system atrophy ClinVar PMID:25741868 NCBI chrNW_004936541:2,381,411...2,479,984 JBrowse link
G Mt3 metallothionein 3 ISO protein: increased expression: visual cortex RGD PMID:20039155 RGD:6480516 NCBI chrNW_004936475:8,864,512...8,866,516 JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chrNW_004936503:613,250...690,555 JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO protein:decreased expression:frontal cortex: RGD PMID:24304186 RGD:11553929 NCBI chrNW_004936602:233,753...274,982 JBrowse link
G Snca synuclein alpha ISO protein:increased expression:oligodendrocyte RGD PMID:9749615 RGD:6480091 NCBI chrNW_004936685:2,077,017...2,175,298 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 chrNW_004936557:7,345,813...7,437,654 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 chrNW_004936524:1,569,610...1,582,103 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 chrNW_004936594:744,531...753,350 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 chrNW_004936763:1,225,355...1,308,257 JBrowse link
G Gnas GNAS complex locus sussceptibility ISO DNA:SNP: : 393T>C(human) RGD PMID:11910300 RGD:1580406 NCBI chrNW_004936530:1,353,432...1,407,437 JBrowse link
G Gnb3 G protein subunit beta 3 susceptibility ISO DNA:SNP: : 825C>T (human) RGD PMID:11910300 RGD:1580406 NCBI chrNW_004936709:970,169...977,059 JBrowse link
G Oprd1 opioid receptor delta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chrNW_004936474:12,860,293...12,902,389 JBrowse link
G Oprm1 opioid receptor mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2981652 NCBI chrNW_004936489:6,506,207...6,567,136 JBrowse link
Orthostatic Hypotension 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101968635 cytochrome b561 ISO OMIM NCBI chrNW_004936541:4,123,187...4,130,819 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 chrNW_004936475:7,937,920...7,973,563 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 chrNW_004936469:13,063,971...13,153,030 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 chrNW_004936628:2,123,917...2,859,958 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 chrNW_004936559:3,924,185...3,981,907 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 chrNW_004936558:4,127,477...4,188,307 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 chrNW_004936475:22,842,333...22,944,680 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 chrNW_004936664:3,674,612...3,715,036 JBrowse link
G Nup62 nucleoporin 62 ISO OMIM NCBI chrNW_004936664:3,690,728...3,713,819 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 chrNW_004936474:683,325...684,662 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 chrNW_004936683:1,224,703...1,326,761 JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004936635:3,465,473...3,482,311 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO OMIM NCBI chrNW_004936809:396,883...466,372 JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004936683:2,874,022...2,936,214 JBrowse link
G Nhsl2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004936959:78,505...97,228 JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004936762:1,657,778...1,766,592 JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004936499:4,771,535...4,782,768 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      nervous system disease 9457
        autonomic nervous system disease 48
          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 + 36
          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 11962
    disease of anatomical entity 11526
      nervous system disease 9457
        peripheral nervous system disease 2308
          autonomic nervous system disease 48
            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 + 36
            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.