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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 56
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Accession:DOID:0110808 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: SPG56;   autosomal recessive spastic paraplegia 56;   autosomal recessive spastic paraplegia type 56;   autosomal recessive spastic paraplegia-56 with or without pseudoxanthoma elasticum
 primary_id: OMIM:615030
 xref: ORDO:320411
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spastic paraplegia 56 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 56 OMIM
ClinVar
PMID:615030 PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 More... NCBI chr 2:219,849,403...219,866,959
Ensembl chr 2:219,849,407...219,866,882
JBrowse link

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 56 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 56 1
paths to the root