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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 SYNDROME-LIKE;   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;   syndromic X-linked mental retardation, Christianson type
 primary_id: MESH:C567484
 alt_id: MESH:C537450;   OMIM:300243
 xref: GARD:10572;   ORDO:85278
For additional species annotation, visit the Alliance of Genome Resources.


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Christianson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Hivep2 human immunodeficiency virus type I enhancer binding protein 2 JBrowse link 1 8,129,354 8,333,890 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
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
Term Annotations click to browse term
  disease 15849
    sensory system disease 4942
      eye disease 2378
        ocular motility disease 115
          Christianson syndrome 4
Path 2
Term Annotations click to browse term
  disease 15849
    disease of anatomical entity 15241
      nervous system disease 10711
        central nervous system disease 8827
          brain disease 8116
            disease of mental health 5750
              developmental disorder of mental health 2909
                specific developmental disorder 2076
                  intellectual disability 1916
                    syndromic intellectual disability 676
                      Mental Retardation, X-Linked 657
                        syndromic X-linked intellectual disability 583
                          Christianson syndrome 4
paths to the root

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