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

ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory and autonomic neuropathy type 1A
go back to main search page
Accession:DOID:0070152 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: HSAN IA;   HSAN1;   HSAN1A;   HSN IA;   HSN1A;   NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE I, SEVERE;   hereditary sensory and autonomic neuropathy, type IA;   hereditary sensory neuropathy type IA;   hereditary sensory radicular neuropathy, autosomal dominant, type 1A
 primary_id: OMIM:162400
 alt_id: RDO:0008083
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hereditary sensory and autonomic neuropathy type 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 JBrowse link 17 11,856,525 11,895,566 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 1 12
              hereditary sensory and autonomic neuropathy type 1A 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 1 12
                  hereditary sensory and autonomic neuropathy type 1A 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.