Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory neuropathy type 2C
go back to main search page
Accession:DOID:0070147 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: HSN2C;   hereditary sensory and autonomic neuropathy, type IIC;   hereditary sensory neuropathy, type IIC
 primary_id: OMIM:614213
 alt_id: RDO:9000616
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hereditary sensory neuropathy type 2C 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: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 neuropathy type 2C 1
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 neuropathy type 2C 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.