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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          paraplegia 130
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 51 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1719
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 51 2
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.