ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 43
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Accession:DOID:0110795 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. (DO)
Synonyms:exact_synonym: SPG43;   autosomal recessive spastic paraplegia 43;   autosomal recessive spastic paraplegia type 43
 primary_id: OMIM:615043
 alt_id: RDO:9001077
 xref: ORDO:320370
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hereditary spastic paraplegia 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          paraplegia 134
            hereditary spastic paraplegia 120
              hereditary spastic paraplegia 43 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          neurodegenerative disease 2091
            Nervous System Heredodegenerative Disorders 1168
              motor peripheral neuropathy 413
                hereditary spastic paraplegia 120
                  hereditary spastic paraplegia 43 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.