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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 16123
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        intellectual disability 2171
          Mental Retardation, X-Linked 669
            syndromic X-linked intellectual disability 589
              syndromic X-linked intellectual disability Hedera type 12
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            disease of mental health 5990
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    syndromic intellectual disability 693
                      Mental Retardation, X-Linked 669
                        syndromic X-linked intellectual disability 589
                          syndromic X-linked intellectual disability Hedera type 12
paths to the root