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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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary spastic paraplegia 12 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT		 OMIM
CTD
ClinVar		 PMID:10677333 PMID:12427890 PMID:22232211 PMID:24123792 PMID:25741868 More... NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          paraplegia 562
            hereditary spastic paraplegia 445
              hereditary spastic paraplegia 12 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          neurodegenerative disease 4894
            Nervous System Heredodegenerative Disorders 3248
              motor peripheral neuropathy 1202
                hereditary spastic paraplegia 445
                  hereditary spastic paraplegia 12 1
paths to the root