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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: 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:1415255, 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:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:10632111, PMID:10995512, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:15508018, PMID:15591283, PMID:16118346, PMID:16722615, PMID:16763962, PMID:16813605, PMID:16955409, PMID:17579672, PMID:18409179, PMID:18414213, PMID:19005673, PMID:20500465, PMID:21505078, PMID:21653732, PMID:22995991, PMID:23681356, PMID:24082139, PMID:24289169, PMID:24327140, PMID:24728327, PMID:24759409, PMID:24805811, PMID:25167861, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28293299, PMID:28371197, PMID:28371217, PMID:28492530, PMID:28492532, PMID:28708303, PMID:29304373, PMID:29602769, PMID:29910053, 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 16023
    syndrome 7003
      alpha thalassemia-X-linked intellectual disability syndrome 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        alpha thalassemia-X-linked intellectual disability syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.