Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 31
go back to main search page
Accession:DOID:0110782 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. (DO)
Synonyms:exact_synonym: SPG31;   autosomal dominant spastic paraplegia 31;   autosomal dominant spastic paraplegia type 31
 primary_id: MESH:C565210
 alt_id: OMIM:610250;   RDO:0011967
 xref: GARD:10817;   ORDO:101011
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hereditary spastic paraplegia 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep1 receptor accessory protein 1 ISO ClinVar Annotator: match by OMIM:610250
ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant
OMIM
ClinVar
PMID:16826527 PMID:18321925 PMID:18644145 PMID:19034539 PMID:20718791 PMID:22703882 PMID:23108492 PMID:23400676 PMID:23812641 PMID:24451228 PMID:24478229 PMID:25025039 PMID:25525159 PMID:25741868 PMID:26201691 PMID:26467025 PMID:26671083 PMID:28362824 PMID:28492532 PMID:29629531 PMID:30373780 PMID:32581362 NCBI chr 4:99,618,622...99,735,329
Ensembl chr 4:99,618,622...99,735,319
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          paraplegia 151
            hereditary spastic paraplegia 135
              hereditary spastic paraplegia 31 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                hereditary spastic paraplegia 135
                  hereditary spastic paraplegia 31 1
paths to the root