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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 77
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Accession:DOID:0110822 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. (DO)
Synonyms:exact_synonym: SPG77;   autosomal recessive spastic paraplegia 77
 primary_id: OMIM:617046
 xref: ORDO:466722
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spastic paraplegia 77 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fars2 phenylalanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 OMIM
ClinVar
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 More... NCBI chr17:28,319,215...28,746,217
Ensembl chr17:28,319,280...28,746,337
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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 77 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 77 1
paths to the root