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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 82
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Accession:DOID:0112343 term browser browse the term
Definition:A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: SPG82;   spastic paraplegia 82 autosomal recessive
 primary_id: MIM:618770
 alt_id: DOID:9003993



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hereditary spastic paraplegia 82 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt2 phosphate cytidylyltransferase 2, ethanolamine ISO ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31637422 PMID:32889549 PMID:33454747 More... NCBI chr10:105,888,769...105,896,182
Ensembl chr10:106,387,148...106,394,468
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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 82 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 82 1
paths to the root