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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 5
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Accession:DOID:0060800 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures;   Fried syndrome;   MENTAL RETARDATION, X-LINKED 59;   MRX59;   MRXS21;   MRXS5;   MRXSF;   PGS;   Pettigrew syndrome;   X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome;   X-linked mental retardation, with Dandy-Walker malformation, basal ganglia disease, and seizures;   X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures;   mental retardation, X-linked syndromic 21;   mental retardation, X-linked syndromic 5;   mental retardation, X-linked syndromic, Fried type
 primary_id: MESH:C535773;   MESH:C564470
 alt_id: OMIM:304340;   RDO:0001074;   RDO:0013418
 xref: NCI:C124839;   ORDO:1568;   ORDO:85335
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic X-linked intellectual disability 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by OMIM:304340
ClinVar Annotator: match by term: Mental retardation X-linked syndromic 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pettigrew syndrome
OMIM
ClinVar
CTD
PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 PMID:17617514 PMID:18414213 PMID:23756445 PMID:25741868 NCBI chr  X:32,329,883...32,376,301
Ensembl chr  X:32,329,598...32,355,307
JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:124,831,391...124,870,329
Ensembl chr  X:124,832,628...124,870,329
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Dandy-Walker syndrome 29
        syndromic X-linked intellectual disability 5 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            disease of mental health 6052
              developmental disorder of mental health 3165
                specific developmental disorder 2344
                  intellectual disability 2167
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        syndromic X-linked intellectual disability 587
                          syndromic X-linked intellectual disability 5 2
paths to the root