ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 51
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Accession:DOID:0110803 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: CPSQ4;   Cerebral Palsy, Spastic Quadriplegic, 4;   SPG51;   autosomal dominant spastic paraplegia 51
 primary_id: OMIM:613744
 alt_id: RDO:9001080
 xref: GARD:10999
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hereditary spastic paraplegia 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4e1 adaptor related protein complex 4 subunit epsilon 1 JBrowse link 3 119,484,714 119,548,491 RGD:7240710
RGD:8554872
G Sppl2a signal peptide peptidase-like 2A JBrowse link 3 119,361,651 119,405,453 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 51 2
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 51 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.