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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
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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Spastic paraplegia 17 OMIM
ClinVar
PMID:1674639, PMID:5964029, PMID:14981520, PMID:15732094, PMID:16427281, PMID:16574104, PMID:17387721, PMID:17486577, PMID:18585921, PMID:18790819, PMID:19396477, PMID:20598714, PMID:21750110, PMID:21957196, PMID:22045697, PMID:22474068, PMID:23553728, PMID:24345054, PMID:24604904, PMID:25219579, PMID:25454168, PMID:25487175, PMID:25741868, PMID:26467025, PMID:26815532, PMID:28492532 NCBI chr 1:225,035,956...225,046,137
Ensembl chr 1:225,037,737...225,046,040
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 17 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 17 1
paths to the root

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