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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 46
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Accession:DOID:0110798 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. (DO)
Synonyms:exact_synonym: SPG46;   autosomal recessive spastic paraplegia 46;   autosomal recessive spastic paraplegia type 46
 primary_id: OMIM:614409
 alt_id: RDO:9001078
 xref: ORDO:320391
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba2 glucosylceramidase beta 2 ISO ClinVar Annotator: match by OMIM:614409
ClinVar Annotator: match by term: Spastic paraplegia 46, autosomal recessive
OMIM
ClinVar
PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 PMID:25741868 PMID:26220345 PMID:28492532 PMID:28832565 PMID:30308956 NCBI chr 5:59,068,081...59,079,719
Ensembl chr 5:59,068,081...59,079,719
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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 46 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 46 1
paths to the root