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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 2A
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Accession:DOID:0070155 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: HSAN IIA;   HSAN2A;   HSN IIA;   HSN2A;   acroosteolysis, Giaccai type;   hereditary sensory and autonomic neuropathy, type IIA;   hereditary sensory neuropathy, type IIA;   neurogenic acroosteolysis;   progressive sensory neuropathy, of children
 related_synonym: Morvan disease
 primary_id: OMIM:201300
For additional species annotation, visit the Alliance of Genome Resources.

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hereditary sensory and autonomic neuropathy type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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, TYPE IIA		 CTD
ClinVar		 PMID:21820098 PMID:22258533 PMID:25265257 PMID:25741868 PMID:26354034 PMID:26467025 PMID:28492532 PMID:28970574 PMID:30564185 PMID:31616253 PMID:32096284 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609 		JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Neurogenic acroosteolysis ClinVar NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609 		JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by OMIM:201300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA		 ClinVar
CTD		 PMID:19838196 PMID:28492532 NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 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, TYPE IIA		 CTD
ClinVar		 PMID:374104 PMID:10514109 PMID:10852559 PMID:10852560 PMID:14985375 PMID:15385606 PMID:15955112 PMID:17145499 PMID:17470132 PMID:18414213 PMID:18518989 PMID:18599537 PMID:19304393 PMID:19369487 PMID:19549232 PMID:19557861 PMID:19763161 PMID:20301342 PMID:20478850 PMID:20628234 PMID:20635406 PMID:21094958 PMID:21115638 PMID:21698661 PMID:21939494 PMID:22035805 PMID:22136189 PMID:22539570 PMID:22604722 PMID:22826602 PMID:22995991 PMID:23129781 PMID:23149731 PMID:23280954 PMID:23292638 PMID:23450472 PMID:23874707 PMID:23895530 PMID:24033266 PMID:24088041 PMID:24776970 PMID:24817410 PMID:24820863 PMID:24848745 PMID:25250524 PMID:25253744 PMID:25316021 PMID:25326635 PMID:25333069 PMID:25348405 PMID:25401298 PMID:25741868 PMID:25852444 PMID:25993546 PMID:25995458 PMID:26264438 PMID:26284228 PMID:26392352 PMID:26467025 PMID:26633545 PMID:26675522 PMID:26920677 PMID:27504264 PMID:27843123 PMID:27884173 PMID:27956748 PMID:28073787 PMID:28116328 PMID:28235406 PMID:28440294 PMID:28492532 PMID:28842445 PMID:29176367 PMID:29264398 PMID:29358611 PMID:29500686 PMID:29911575 PMID:29924869 PMID:29978519 PMID:30311386 PMID:30316835 PMID:30642272 PMID:30795902 PMID:30834459 PMID:32581362 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209 		JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA
ClinVar Annotator: match by term: Neurogenic acroosteolysis
ClinVar Annotator: match by OMIM:201300
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE II
ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type II		 OMIM
ClinVar		 PMID:15060842 PMID:15455397 PMID:15911806 PMID:16534117 PMID:16636245 PMID:16946995 PMID:18521183 PMID:18580052 PMID:19651702 PMID:21530900 PMID:21625937 PMID:22302274 PMID:22910560 PMID:22934535 PMID:23149595 PMID:25741868 PMID:26467025 PMID:27066579 PMID:27671536 PMID:27765018 PMID:28422281 PMID:28492532 PMID:29701257 PMID:29911575 PMID:30497409 PMID:31132985 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        Nervous System Malformations 1102
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 2 5
              hereditary sensory and autonomic neuropathy type 2A 5
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          neurodegenerative disease 3235
            Nervous System Heredodegenerative Disorders 1952
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 2 5
                  hereditary sensory and autonomic neuropathy type 2A 5
paths to the root