ONTOLOGY REPORT - ANNOTATIONS


Term:Christianson syndrome
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Accession:DOID:0060825 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. (DO)
Synonyms:exact_synonym: Angelman-Like Syndrome, X-Linked;   Intellectual Deficit, X-Linked, South African Type;   MRXSCH;   Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome;   X-linked intellectual disability, South African type;   X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome;   mental retardation, X-linked syndromic, Christianson type
 primary_id: MESH:C567484
 alt_id: OMIM:300243;   RDO:0015546
 xref: GARD:10572;   ORDO:85278
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Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc9a6 solute carrier family 9 member A6 JBrowse link X 158,979,081 159,045,019 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 14823
    physical disorder 742
      congenital nervous system abnormality 299
        microcephaly 208
          Christianson syndrome 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        syndromic X-linked intellectual disability 45
                          Christianson syndrome 1
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