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ONTOLOGY REPORT - ANNOTATIONS
Term:hereditary spastic paraplegia 52
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Accession:DOID:0110804 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. (DO)
Synonyms:exact_synonym: CPSQ6;   Cerebral Palsy, Spastic Quadriplegic, 6;   SPG52;   autosomal recessive spastic paraplegia 52
 primary_id: OMIM:614067
 alt_id: RDO:9001081
For additional species annotation, visit the Alliance of Genome Resources.

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hereditary spastic paraplegia 52 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap4s1 adaptor related protein complex 4 subunit sigma 1 JBrowse link 6 72,461,977 72,502,717 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          paraplegia 132
            hereditary spastic paraplegia 118
              hereditary spastic paraplegia 52 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 458
                hereditary spastic paraplegia 118
                  hereditary spastic paraplegia 52 1
paths to the root

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