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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:hereditary sensory and autonomic neuropathy type 2
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Accession:DOID:0070161 term browser browse the term
Definition:A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. (DO)
Synonyms:exact_synonym: HSAN 2;   HSAN II;   HSAN2;   HSANII;   hereditary sensory and autonomic neuropathy, type II;   hereditary sensory neuropathy, type II
 primary_id: MESH:C567738
 xref: GARD:3976;   ORDO:970


show annotations for term's descendants           Sort by:
hereditary sensory and autonomic neuropathy type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:29691679 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2		 CTD
ClinVar		 PMID:19838196 PMID:24327336 PMID:25741868 PMID:28492532 PMID:31737055 More... NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II ClinVar PMID:28492532 NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		JBrowse link
Congenital Indifference to Pain, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Indifference to pain, congenital, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:15955112 PMID:17167479 PMID:17470132 PMID:18414213 PMID:18518989 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
hereditary sensory and autonomic neuropathy type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csrnp3 cysteine and serine rich nuclear protein 3 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,498,379...50,695,598
Ensembl chr 3:50,498,633...50,685,950 		JBrowse link
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,742,500...50,779,266
Ensembl chr 3:50,742,512...50,766,268 		JBrowse link
G Kif1a kinesin family member 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A		 CTD
ClinVar		 PMID:21820098 PMID:22258533 PMID:25265257 PMID:25741868 PMID:26125038 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
G Scn2a sodium voltage-gated channel alpha subunit 2 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,302,781...50,437,504
Ensembl chr 3:50,302,877...50,437,214 		JBrowse link
G Scn3a sodium voltage-gated channel alpha subunit 3 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,146,411...50,258,119
Ensembl chr 3:50,148,139...50,258,119 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: HSAN IIA | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A		 CTD
ClinVar		 PMID:374104 PMID:9536098 PMID:10514109 PMID:10852559 PMID:10852560 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A ClinVar PMID:15133511 PMID:16865694 PMID:17347258 PMID:17470132 PMID:17561957 More... NCBI chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: HSAN IIA | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ACROOSTEOLYSIS, NEUROGENIC | ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15060842 PMID:15455397 PMID:15911806 PMID:16199547 More... NCBI chr 4:153,128,334...153,253,905
Ensembl chr 4:153,128,334...153,253,905 		JBrowse link
hereditary sensory and autonomic neuropathy type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIB | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2B OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19838196 PMID:24327336 PMID:25741868 More... NCBI chr 2:76,335,609...76,474,817
Ensembl chr 2:76,335,609...76,493,898 		JBrowse link
hereditary sensory neuropathy type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC | ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type 2C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:21376300 PMID:21820098 PMID:22258533 More... NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Nervous System Malformations 2383
          hereditary sensory neuropathy 51
            hereditary sensory and autonomic neuropathy type 2 10
              Congenital Indifference to Pain, Autosomal Recessive 1
              hereditary sensory and autonomic neuropathy type 2A 10
              hereditary sensory and autonomic neuropathy type 2B 1
              hereditary sensory neuropathy type 2C 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          neurodegenerative disease 4905
            Nervous System Heredodegenerative Disorders 3254
              hereditary sensory neuropathy 51
                hereditary sensory and autonomic neuropathy type 2 10
                  Congenital Indifference to Pain, Autosomal Recessive 1
                  hereditary sensory and autonomic neuropathy type 2A 10
                  hereditary sensory and autonomic neuropathy type 2B 1
                  hereditary sensory neuropathy type 2C 1
paths to the root