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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
 alt_id: RDO:9001560
 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: Spastic paraplegia 77, autosomal recessive ClinVar
OMIM
PMID:25741868 PMID:25851414 PMID:26553276 PMID:28492532 PMID:29126765 PMID:30869852 NCBI chr17:29,006,981...29,438,906
Ensembl chr17:29,006,988...29,438,668
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          paraplegia 145
            hereditary spastic paraplegia 132
              hereditary spastic paraplegia 77 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          neurodegenerative disease 3215
            Nervous System Heredodegenerative Disorders 1912
              motor peripheral neuropathy 523
                hereditary spastic paraplegia 132
                  hereditary spastic paraplegia 77 1
paths to the root