Send us a Message



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

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 Neuropathy with Spastic Paraplegia, Autosomal Recessive
go back to main search page
Accession:DOID:9000572 term browser browse the term
Synonyms:primary_id: MESH:C564948
 alt_id: OMIM:256840;   RDO:0013737
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cct5 chaperonin containing TCP1 subunit 5 ISO ClinVar Annotator: match by OMIM:256840
ClinVar Annotator: match by term: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
OMIM
ClinVar
PMID:16399879 PMID:25124038 PMID:25345891 PMID:25741868 PMID:28492532 PMID:28623285 PMID:29552646 NCBI chr 2:84,667,578...84,678,730
Ensembl chr 2:84,667,633...84,678,790
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            motor peripheral neuropathy 480
              Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          neurodegenerative disease 3348
            Nervous System Heredodegenerative Disorders 1976
              motor peripheral neuropathy 480
                Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive 1
paths to the root