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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 X-linked mental retardation syndrome;   X-linked alpha-thalassemia/impaired intellectual development syndrome;   XLMR-hypotonic face syndrome;   alpha-thalassemia mental retardation syndrome, non deletion type, X-linked;   alpha-thalassemia-mental retardation syndrome, nondeletion type;   alpha-thalassemia-mental retardation syndrome, nondeletion type, X-linked;   alpha-thalassemia-mental retardation, X-linked
 broad_synonym: ATRX-RELATED DISORDER
 primary_id: MESH:C538258
 alt_id: OMIM:301040
 xref: GARD:5864;   ICD10CM:D56.0;   NCI:C118631;   ORDO:847


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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 Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atr ATR serine/threonine kinase ISO ClinVar Annotator: match by term: ATR-X-related syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO
ISS		 OMIM:301040
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED | ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome | ClinVar Annotator: match by term: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | ClinVar Annotator: match by term: X-linked alpha-thalassemia-mental retardation syndrome
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) 		OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:3239563 PMID:3658675 PMID:6682021 PMID:6711605 PMID:7506096 More... RGD:9586027, RGD:9586029, RGD:9586030 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330 		JBrowse link
G Cox7b cytochrome c oxidase subunit 7B ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:71,083,486...71,089,733
Ensembl chr  X:71,083,456...71,089,732 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:25741868 NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Magt1 magnesium transporter 1 ISO ClinVar Annotator: match by term: Alpha thalassemia-X-linked intellectual disability syndrome ClinVar PMID:28492532 NCBI chr  X:71,038,489...71,079,704
Ensembl chr  X:71,038,489...71,079,699 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      alpha thalassemia-X-linked intellectual disability syndrome 6
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      Hemic and Lymphatic Diseases 3831
        hematopoietic system disease 3322
          anemia 773
            normocytic anemia 416
              hemolytic anemia 416
                congenital hemolytic anemia 348
                  hemoglobinopathy 242
                    thalassemia 210
                      alpha thalassemia 74
                        alpha thalassemia-X-linked intellectual disability syndrome 6
paths to the root