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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
 primary_id: OMIM:615030
 alt_id: RDO:9001085
 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 OMIM:615030
ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive
OMIM
ClinVar
PMID:23176821 PMID:25558065 PMID:25741868 PMID:26914923 PMID:28492532 PMID:32860008 NCBI chr 2:236,414,131...236,431,650
Ensembl chr 2:236,414,135...236,431,683
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          paraplegia 151
            hereditary spastic paraplegia 135
              hereditary spastic paraplegia 56 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          neurodegenerative disease 3216
            Nervous System Heredodegenerative Disorders 1915
              motor peripheral neuropathy 526
                hereditary spastic paraplegia 135
                  hereditary spastic paraplegia 56 1
paths to the root