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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 38
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Accession:DOID:0110789 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. (DO)
Synonyms:exact_synonym: SPG38;   autosomal dominant spastic paraplegia 38;   autosomal dominant spastic paraplegia type 38
 primary_id: MESH:C567349
 alt_id: OMIM:612335;   RDO:0012009
 xref: ORDO:171617


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 38 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          neurodegenerative disease 4893
            Nervous System Heredodegenerative Disorders 3247
              motor peripheral neuropathy 1202
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 38 0
paths to the root