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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 12
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Accession:DOID:0110765 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: SPG12;   autosomal dominant spastic paraplegia 12;   autosomal dominant spastic paraplegia type 12
 primary_id: MESH:C537484
 alt_id: OMIM:604805;   RDO:0003330
 xref: GARD:9586;   ORDO:100993
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by OMIM:604805
ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12
OMIM
ClinVar
PMID:10677333, PMID:12427890, PMID:22232211, PMID:25741868, PMID:27165006, PMID:28492532 NCBI chr 1:80,195,594...80,208,449
Ensembl chr 1:80,195,532...80,208,448
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          paraplegia 163
            hereditary spastic paraplegia 147
              hereditary spastic paraplegia 12 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          neurodegenerative disease 3190
            Nervous System Heredodegenerative Disorders 1950
              motor peripheral neuropathy 536
                hereditary spastic paraplegia 147
                  hereditary spastic paraplegia 12 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.