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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 47
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Accession:DOID:0110799 term browser browse the term
Definition:A spastic paraplegia caused by mutation in the adaptor-related protein complex 4, beta-1 subunit gene.
Synonyms:exact_synonym: CPSQ5;   SPG47;   autosomal recessive spastic paraplegia 47;   spastic quadriplegic cerebral palsy 5
 primary_id: OMIM:614066
 alt_id: RDO:9001079
 xref: ORDO:280763
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hereditary spastic paraplegia 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4b1 adaptor related protein complex 4 subunit beta 1 JBrowse link 2 206,293,679 206,305,705 RGD:7240710
RGD:8554872
G Dclre1b DNA cross-link repair 1B JBrowse link 2 206,285,085 206,293,599 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          paraplegia 131
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 47 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 47 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.