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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 ATP13A2 on chromosome 1p36.13. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78;   SPG78;   spastic paraplegia 78 autosomal recessive
 primary_id: OMIM:617225
 alt_id: DOID:9003368
 xref: ORDO:513436
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 78 OMIM
ClinVar
PMID:12169656 PMID:16964263 PMID:17485642 PMID:18075584 PMID:18075585 More... NCBI chr 5:153,292,722...153,312,143
Ensembl chr 5:153,292,751...153,312,139
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          paraplegia 275
            hereditary spastic paraplegia 228
              hereditary spastic paraplegia 78 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          neurodegenerative disease 3902
            Nervous System Heredodegenerative Disorders 2394
              motor peripheral neuropathy 683
                hereditary spastic paraplegia 228
                  hereditary spastic paraplegia 78 1
paths to the root