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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 57
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Accession:DOID:0110809 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. (DO)
Synonyms:exact_synonym: SPG57;   autosomal recessive spastic paraplegia 57;   autosomal recessive spastic paraplegia type 57
 primary_id: OMIM:615658
 xref: EFO:0009017;   ORDO:431329


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hereditary spastic paraplegia 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TFG trafficking from ER to golgi regulator ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 57 | ClinVar Annotator: match by term: Spastic paraplegia 57, autosomal recessive OMIM
ClinVar		 PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 More... NCBI chr 3:97,801,918...97,841,646
Ensembl chr 3:104,482,388...104,521,919 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          paraplegia 570
            hereditary spastic paraplegia 451
              hereditary spastic paraplegia 57 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          neurodegenerative disease 4734
            Nervous System Heredodegenerative Disorders 3268
              motor peripheral neuropathy 1213
                hereditary spastic paraplegia 451
                  hereditary spastic paraplegia 57 1
paths to the root