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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
 alt_id: RDO:9001026
 xref: ORDO:431329
For additional species annotation, visit the Alliance of Genome Resources.


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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: Spastic paraplegia 57, autosomal recessive OMIM
ClinVar
PMID:22883144 PMID:23479643 PMID:23553329 PMID:23806086 PMID:24088041 PMID:24613659 PMID:25725944 PMID:25741868 PMID:26257172 PMID:27492651 PMID:28196470 PMID:28492532 PMID:29971521 PMID:30157421 NCBI chr11:46,180,189...46,206,723
Ensembl chr11:46,179,940...46,206,721
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          paraplegia 144
            hereditary spastic paraplegia 131
              hereditary spastic paraplegia 57 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                hereditary spastic paraplegia 131
                  hereditary spastic paraplegia 57 1
paths to the root