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ONTOLOGY REPORT - ANNOTATIONS
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: ICD10CM:D56.0;   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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      alpha thalassemia-X-linked intellectual disability syndrome 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    syndromic intellectual disability 677
                      Mental Retardation, X-Linked 658
                        alpha thalassemia-X-linked intellectual disability syndrome 2
paths to the root

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