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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:syndromic X-linked intellectual disability Hedera type
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Accession:DOID:0060806 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: MRXE;   MRXSH;   X-linked mental retardation with epilepsy;   mental retardation, X-linked, syndromic, Hedera type
 primary_id: MESH:C564516
 alt_id: OMIM:300423;   RDO:0013456
 xref: ORDO:93952
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic X-linked intellectual disability Hedera type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arx aristaless related homeobox ISO DNA:missense mutation:cds:p.P353L (human) RGD PMID:12177367, PMID:19605412 RGD:11565831, RGD:11565840 NCBI chr  X:62,363,757...62,376,139
Ensembl chr  X:62,363,757...62,376,143
JBrowse link
G Atp6ap2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type
ClinVar Annotator: match by OMIM:300423
OMIM
ClinVar
PMID:11782983, PMID:15746149, PMID:25741868, PMID:26467025, PMID:26467484, PMID:28492532, PMID:30985297 NCBI chr  X:11,137,889...11,164,854
Ensembl chr  X:11,136,939...11,164,915
JBrowse link
G Bcor BCL6 co-repressor ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:11,570,155...11,692,022
Ensembl chr  X:11,648,989...11,691,099
JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:9,815,652...10,156,155
Ensembl chr  X:9,815,652...10,156,155
JBrowse link
G Ddx3x DEAD-box helicase 3, X-linked ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,400,363...10,414,010
Ensembl chr  X:10,400,366...10,413,995
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,022,986...10,043,504
Ensembl chr  X:10,023,489...10,031,167
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:9,992,832...10,001,036
Ensembl chr  X:9,998,415...9,999,401
JBrowse link
G Med14 mediator complex subunit 14 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,964,035...11,082,403
Ensembl chr  X:10,963,809...11,082,565
JBrowse link
G Mpc1l mitochondrial pyruvate carrier 1-like ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:11,098,849...11,105,312 JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,197,547...10,218,583
Ensembl chr  X:10,197,547...10,218,583
JBrowse link
G RGD1565685 similar to RIKEN cDNA 1810030O07 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:11,082,668...11,105,588
Ensembl chr  X:11,084,317...11,105,588
JBrowse link
G Usp9x ubiquitin specific peptidase 9, X-linked ISO ClinVar Annotator: match by term: Mental retardation, X-linked, syndromic, Hedera type ClinVar PMID:28492532 NCBI chr  X:10,510,033...10,660,555
Ensembl chr  X:10,510,033...10,630,297
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          Mental Retardation, X-Linked 661
            syndromic X-linked intellectual disability 585
              syndromic X-linked intellectual disability Hedera type 12
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        syndromic X-linked intellectual disability 585
                          syndromic X-linked intellectual disability Hedera type 12
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.