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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 13
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Accession:DOID:0110766 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 on chromosome 2q33. (DO)
Synonyms:exact_synonym: SPG13;   autosomal dominant spastic paraplegia 13
 primary_id: MESH:C537485
 alt_id: OMIM:605280;   RDO:0003331
 xref: GARD:9616;   ORDO:100994
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spastic paraplegia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by OMIM:605280
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Hereditary spastic paraplegia 13
OMIM
ClinVar
CTD
RGD
PMID:10677329 PMID:17420924 PMID:18414213 PMID:18571143 PMID:22552817 More... RGD:10402832 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
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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 13 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 13 1
paths to the root