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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 8
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Accession:DOID:0110823 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: SPG8;   Spastic Paraplegia 8;   Spg 8;   autosomal dominant spastic paraplegia 8;   autosomal dominant spastic paraplegia type 8;   spastic paraplegia type 8
 broad_synonym: WASHC5-RELATED CONDITION
 primary_id: MESH:C580458
 alt_id: OMIM:603563;   RDO:0002580;   RDO:0015929
 xref: GARD:9591;   ORDO:100989


show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNM1L dynamin 1 like ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr12:53,476,553...53,541,421
Ensembl chr12:56,077,504...56,142,376 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr 5:172,431,968...172,602,174
Ensembl chr 5:179,499,865...179,666,351 		JBrowse link
G NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:28492532 NCBI chr 8:121,777,986...122,052,094
Ensembl chr 8:124,529,268...124,803,114 		JBrowse link
G SETBP1 SET binding protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 PMID:28492532 NCBI chr18:37,963,089...38,350,092
Ensembl chr18:41,524,998...41,885,453 		JBrowse link
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 ClinVar PMID:25741868 NCBI chr12:24,419,271...24,469,164
Ensembl chr12:24,917,246...24,968,587 		JBrowse link
G WASHC5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 8 | ClinVar Annotator: match by term: WASHC5-related condition OMIM
ClinVar		 PMID:9536098 PMID:10797436 PMID:16199547 PMID:17160902 PMID:17576681 More... NCBI chr 8:121,710,118...121,777,977
Ensembl chr 8:124,461,424...124,529,262 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          paraplegia 570
            hereditary spastic paraplegia 451
              hereditary spastic paraplegia 8 6
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          neurodegenerative disease 4736
            Nervous System Heredodegenerative Disorders 3270
              motor peripheral neuropathy 1213
                hereditary spastic paraplegia 451
                  hereditary spastic paraplegia 8 6
paths to the root