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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 78
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Accession:DOID:0112348 term browser browse the term
Definition:A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78;   SPG78;   spastic paraplegia 78 autosomal recessive
 broad_synonym: ATP13A2-RELATED CONDITION
 primary_id: OMIM:617225
 alt_id: DOID:9003368
 xref: ORDO:513436


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hereditary spastic paraplegia 78 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp13a2 ATPase cation transporting 13A2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ATP13A2-related condition | ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:12169656 PMID:16964263 PMID:17576681 PMID:18075584 More... NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 78 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          neurodegenerative disease 4906
            Nervous System Heredodegenerative Disorders 3255
              motor peripheral neuropathy 1201
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 78 1
paths to the root