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
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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 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          paraplegia 134
            hereditary spastic paraplegia 120
              hereditary spastic paraplegia 48 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 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.