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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 72
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Accession:DOID:0110817 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: SPG72;   autosomal spastic paraplegia type 72;   spastic paraplegia 72, autosomal dominant;   spastic paraplegia 72, autosomal recessive
 narrow_synonym: autosomal dominant spastic paraplegia type 72;   autosomal recessive spastic paraplegia type 72
 primary_id: OMIM:615625
 alt_id: RDO:9001017;   RDO:9001095
 xref: ORDO:401849
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 72 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 72, autosomal recessive OMIM
ClinVar
PMID:24388663, PMID:25741868, PMID:28491902, PMID:28492532 NCBI chr18:27,632,562...27,641,594
Ensembl chr18:27,632,786...27,641,591
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 72 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 72 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.