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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 83
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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: OMIM:619027
 alt_id: DOID:9006133


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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:33970200 NCBI chr 6:166,012,590...166,015,051
Ensembl chr 6:166,012,601...166,014,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          paraplegia 561
            hereditary spastic paraplegia 441
              hereditary spastic paraplegia 83 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          neurodegenerative disease 4656
            Nervous System Heredodegenerative Disorders 3192
              motor peripheral neuropathy 1185
                hereditary spastic paraplegia 441
                  hereditary spastic paraplegia 83 1
paths to the root