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Term:alpha thalassemia-X-linked intellectual disability syndrome
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Accession:DOID:0110030 term browser browse the term
Definition:An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. (DO)
Synonyms:exact_synonym: ATR non deletion type;   ATR, Nondeletion Type;   ATR-X Syndrome;   ATR-X-RELATED SYNDROME;   ATRX;   ATRX Syndrome;   Alpha Thalassemia-Mental Retardation, X-Linked;   Alpha thalassemia mental retardation syndrome, non deletion type, X-linked;   Alpha-Thalassemia-Mental Retardation Syndrome, Nondeletion Type, X-Linked;   Alpha-thalassemia X-linked mental retardation syndrome;   XLMR-hypotonic face syndrome;   alpha-thalassemia-mental retardation syndrome, nondeletion type
 broad_synonym: ATRX-RELATED DISORDER
 primary_id: MESH:C538258
 alt_id: OMIM:301040;   RDO:0004213
 xref: ORDO:847
For additional species annotation, visit the Alliance of Genome Resources.


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alpha thalassemia-X-linked intellectual disability syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:8554872
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:7240710
RGD:8554872
RGD:9586027
RGD:9586029
RGD:9586030

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Term Annotations click to browse term
  disease 14759
    syndrome 4210
      alpha thalassemia-X-linked intellectual disability syndrome 2
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        alpha thalassemia-X-linked intellectual disability syndrome 2
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