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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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, Nondeletion Type, X-Linked;   Alpha-thalassemia X-linked mental retardation syndrome;   XLMR-hypotonic face syndrome;   alpha-thalassemia mental retardation syndrome, non deletion type, X-linked;   alpha-thalassemia-mental retardation syndrome, nondeletion type
 broad_synonym: ATRX-RELATED DISORDER
 primary_id: MESH:C538258
 alt_id: OMIM:301040
 xref: ICD10CM:D56.0;   NCI:C118631;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 NCBI chr 8:103,673,578...103,770,886
Ensembl chr 8:103,673,411...103,770,947 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome
ClinVar Annotator: match by term: XLMR hypotonic face syndrome
ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
ClinVar Annotator: match by term: ATR-X syndrome
ClinVar Annotator: match by OMIM:301040
DNA:nonsense mutation:exon: c.109C>T (p.R37X)(human)
DNA:missense mutations:exons: c.736C>T (p.R246C), c.736C>T (p.R246C)(human)
DNA:missense mutations:exons: c.6253C>T (p.R2085C), c.6254G>A (p.R2085H)(human)
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:3239563 PMID:3658675 PMID:6682021 PMID:7506096 PMID:7697714 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9598720 PMID:10204841 PMID:10417298 PMID:10632111 PMID:10995512 PMID:12116232 PMID:12673795 PMID:15508018 PMID:15591283 PMID:16763962 PMID:16813605 PMID:16955409 PMID:17579672 PMID:18409179 PMID:18414213 PMID:20500465 PMID:21505078 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24327140 PMID:24728327 PMID:24759409 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29304373 PMID:29602769 PMID:29910053 PMID:31130284, PMID:24805811, PMID:24327140, PMID:24289169 RGD:9586027, RGD:9586029, RGD:9586030 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      alpha thalassemia-X-linked intellectual disability syndrome 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              developmental disorder of mental health 3187
                specific developmental disorder 2367
                  intellectual disability 2190
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        alpha thalassemia-X-linked intellectual disability syndrome 2
paths to the root