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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 45
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Accession:DOID:0110797 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: SPG45;   SPG65;   autosomal recessive spastic paraplegia 45;   autosomal recessive spastic paraplegia type 45;   autosomal recessive spastic paraplegia type 65
 primary_id: OMIM:613162
 xref: ORDO:320396
For additional species annotation, visit the Alliance of Genome Resources.



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hereditary spastic paraplegia 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 ClinVar PMID:24482476 PMID:25741868 PMID:28492532 NCBI chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
JBrowse link
G Nt5c2 5'-nucleotidase, cytosolic II ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 45 OMIM
ClinVar
PMID:16199547 PMID:19415352 PMID:24482476 PMID:25741868 PMID:28492532 More... NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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 45 2
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 45 2
paths to the root