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
Accession: DOID:0110030
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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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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
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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
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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 PMID:7697714 PMID:7726225 PMID:8630485 PMID:8644709 PMID:8968741 PMID:9244431 PMID:9326931 PMID:9536098 PMID:9598720 PMID:10204841 PMID:10398237 PMID:10417298 PMID:10632111 PMID:10660327 PMID:10995512 PMID:11050622 PMID:12116232 PMID:12673795 PMID:15508018 PMID:15591283 PMID:16199547 PMID:16763962 PMID:16813605 PMID:16935875 PMID:16955409 PMID:17576681 PMID:17579672 PMID:17609377 PMID:18409179 PMID:18414213 PMID:19291773 PMID:20500465 PMID:20655035 PMID:21421568 PMID:21505078 PMID:22129561 PMID:22659343 PMID:22796527 PMID:22995991 PMID:23352163 PMID:23681356 PMID:24082139 PMID:24289169 PMID:24327140 PMID:24690944 PMID:24728327 PMID:24759409 PMID:24805811 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25590979 PMID:25640679 PMID:25644381 PMID:25741868 PMID:26350204 PMID:26467025 PMID:26539891 PMID:28027854 PMID:28293299 PMID:28371217 PMID:28492530 PMID:28492532 PMID:28708303 PMID:29158550 PMID:29304373 PMID:29602769 PMID:29790871 PMID:29910053 PMID:31130284 PMID:32170002 PMID:32595695 PMID:35229910 PMID:24805811 PMID:24327140 PMID:24289169 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
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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
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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
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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
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