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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 48
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Accession:DOID:0110800 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. (DO)
Synonyms:exact_synonym: SPG48;   Spastic Paraplegia 48;   autosomal recessive spastic paraplegia 48;   autosomal recessive spastic paraplegia type 48
 primary_id: OMIM:613647
 alt_id: RDO:0009927
 xref: ORDO:306511
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 JBrowse link 12 14,161,998 14,175,997 RGD:7240710
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 48 1
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 48 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.