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Term:creatine transporter deficiency
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Accession:DOID:0050800 term browser browse the term
Definition:A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. (DO)
Synonyms:exact_synonym: CCDS1;   Creatine Deficiency, X-Linked;   Creatine Transporter Defect;   Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia;   Mental retardation, X-linked, with creatine transport deficiency;   SLC6A8-related creatine transporter deficiency;   Slc6a8 Deficiency;   X-linked creatine deficiency syndrome;   X-linked creatine transporter deficiency;   cerebral creatine deficiency syndrome 1
 primary_id: MESH:C535598
 alt_id: OMIM:300352;   RDO:0000817
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creatine transporter deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a8 solute carrier family 6 member 8 JBrowse link X 157,129,987 157,139,321 RGD:7240710

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Path 1
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  disease 15503
    syndrome 5771
      cerebral creatine deficiency syndrome 12
        creatine transporter deficiency 1
Path 2
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  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            disease of mental health 5617
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  intellectual disability 1788
                    syndromic intellectual disability 676
                      Mental Retardation, X-Linked 657
                        creatine transporter deficiency 1
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