Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways

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 83
go back to main search page
Accession:DOID:0112346 term browser browse the term
Definition:A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. (DO)
Synonyms:exact_synonym: SPG83;   spastic paraplegia 83 autosomal recessive
 primary_id: MIM:619027
 alt_id: DOID:9006133



show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 83 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpdl 4-hydroxyphenylpyruvate dioxygenase-like ISO ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:32707086 PMID:33188300 PMID:33970200 NCBI chr 5:135,523,258...135,524,864
Ensembl chr 5:135,523,262...135,535,704
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          paraplegia 704
            hereditary spastic paraplegia 466
              hereditary spastic paraplegia 83 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          neurodegenerative disease 5086
            Nervous System Heredodegenerative Disorders 3381
              motor peripheral neuropathy 1307
                hereditary spastic paraplegia 466
                  hereditary spastic paraplegia 83 1
paths to the root