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 spastic paraplegia 17
go back to main search page
Accession:DOID:0110770 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: SPG17;   Silver spastic paraplegia syndrome;   Silver syndrome;   autosomal dominant spastic paraplegia 17;   autosomal dominant spastic paraplegia type 17;   spastic paraplegia 17;   spastic paraplegia with amyotrophy of hands and feet;   spastic paraplegia-amyotrophy of hands and feet
 related_synonym: dHMN5B;   distal hereditary motor neuropathy type 5B
 primary_id: MESH:C536644
 alt_id: OMIM:270685
 xref: GARD:4219;   ORDO:100998



show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant spastic paraplegia type 17 | ClinVar Annotator: match by term: Hereditary spastic paraplegia 17
OMIM
CTD
ClinVar
PMID:1674639 PMID:5964029 PMID:11479539 PMID:14981520 PMID:15126564 More... NCBI chr 1:205,731,828...205,743,430
Ensembl chr 1:205,733,872...205,743,421
JBrowse link
G Son SON DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 17 ClinVar PMID:25590979 PMID:25741868 PMID:25741875 PMID:27256762 PMID:27545676 More... NCBI chr11:30,850,890...30,923,167
Ensembl chr11:30,892,005...30,923,167
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          paraplegia 564
            hereditary spastic paraplegia 447
              hereditary spastic paraplegia 17 2
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          neurodegenerative disease 4878
            Nervous System Heredodegenerative Disorders 3232
              motor peripheral neuropathy 1204
                hereditary spastic paraplegia 447
                  hereditary spastic paraplegia 17 2
paths to the root