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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 53
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Accession:DOID:0110805 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. (DO)
Synonyms:exact_synonym: SPG53;   autosomal recessive spastic paraplegia 53;   autosomal recessive spastic paraplegia type 53
 primary_id: OMIM:614898
 alt_id: RDO:9001082
 xref: ORDO:319199
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps37a VPS37A subunit of ESCRT-I ISO ClinVar Annotator: match by OMIM:614898
ClinVar Annotator: match by term: Spastic paraplegia 53, autosomal recessive
OMIM
ClinVar
PMID:22717650 PMID:28492532 PMID:29473047 NCBI chr16:54,860,811...54,899,410
Ensembl chr16:54,860,868...54,899,347
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          paraplegia 144
            hereditary spastic paraplegia 131
              hereditary spastic paraplegia 53 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          neurodegenerative disease 3220
            Nervous System Heredodegenerative Disorders 1911
              motor peripheral neuropathy 522
                hereditary spastic paraplegia 131
                  hereditary spastic paraplegia 53 1
paths to the root