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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: MESH:C567738;   RDO:0008209
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hereditary sensory and autonomic neuropathy type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
RGD:11554173
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:8554872
RGD:11554173
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Scn9a sodium voltage-gated channel alpha subunit 9 JBrowse link 3 52,583,953 52,664,209 RGD:11554173
RGD:8554872
G Ttc21b tetratricopeptide repeat domain 21B JBrowse link 3 52,286,794 52,361,060 RGD:8554872
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        Nervous System Malformations 741
          hereditary sensory neuropathy 29
            hereditary sensory and autonomic neuropathy type 2 7
              hereditary sensory and autonomic neuropathy type 2A 6
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              hereditary sensory neuropathy 29
                hereditary sensory and autonomic neuropathy type 2 7
                  hereditary sensory and autonomic neuropathy type 2A 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.