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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 17
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Accession:DOID:0110770 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: SPG17;   Silver spastic paraplegia syndrome;   Silver syndrome;   autosomal dominant spastic paraplegia 17;   autosomal dominant spastic paraplegia type 17;   spastic paraplegia 17;   spastic paraplegia with amyotrophy of hands and feet;   spastic paraplegia-amyotrophy of hands and feet
 related_synonym: dHMN5B;   distal hereditary motor neuropathy type 5B
 primary_id: MESH:C536644
 alt_id: OMIM:270685
 xref: GARD:4219;   ORDO:100998
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          paraplegia 174
            hereditary spastic paraplegia 142
              hereditary spastic paraplegia 17 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          neurodegenerative disease 3521
            Nervous System Heredodegenerative Disorders 2133
              motor peripheral neuropathy 502
                hereditary spastic paraplegia 142
                  hereditary spastic paraplegia 17 1
paths to the root