ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 44
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Accession:DOID:0110796 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: SPG44;   Spastic Paraplegia 44;   autosomal recessive spastic paraplegia 44
 primary_id: MESH:C567707
 alt_id: OMIM:613206;   RDO:0012022
 xref: ORDO:320401
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hereditary spastic paraplegia 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:7240710
RGD:8554872
RGD:13208577

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          paraplegia 134
            hereditary spastic paraplegia 120
              hereditary spastic paraplegia 44 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          neurodegenerative disease 2092
            Nervous System Heredodegenerative Disorders 1168
              motor peripheral neuropathy 413
                hereditary spastic paraplegia 120
                  hereditary spastic paraplegia 44 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.