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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 75
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Accession:DOID:0110820 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: SPG75;   autosomal recessive spastic paraplegia 75;   autosomal recessive spastic paraplegia type 75
 primary_id: OMIM:616680
 xref: ORDO:459056
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 75 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mag myelin-associated glycoprotein ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24482476 PMID:25741868 PMID:26179919 More... NCBI chr 1:86,148,227...86,163,726
Ensembl chr 1:86,148,228...86,163,656 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          paraplegia 262
            hereditary spastic paraplegia 227
              hereditary spastic paraplegia 75 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          neurodegenerative disease 3870
            Nervous System Heredodegenerative Disorders 2364
              motor peripheral neuropathy 673
                hereditary spastic paraplegia 227
                  hereditary spastic paraplegia 75 1
paths to the root