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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 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;   alpha-thalassemia-mental retardation syndrome, nondeletion type, 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
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 8:96,426,704...96,524,152
Ensembl chr 8:96,426,724...96,524,136 		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 mental retardation 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
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      alpha thalassemia-X-linked intellectual disability syndrome 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          anemia 432
            normocytic anemia 202
              hemolytic anemia 202
                congenital hemolytic anemia 156
                  hemoglobinopathy 121
                    thalassemia 90
                      alpha thalassemia 57
                        alpha thalassemia-X-linked intellectual disability syndrome 2
paths to the root