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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


show annotations for term's descendants           Sort by:
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
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pettigrew syndrome
OMIM:304340		 OMIM
CTD
ClinVar
MouseDO		 PMID:2018058 PMID:5054319 PMID:10398241 PMID:12599187 PMID:17186471 More... NCBI chr  X:30,572,746...30,598,961
Ensembl chr  X:30,572,751...30,597,262 		JBrowse link
G Cul4b cullin 4B ISO ClinVar Annotator: match by term: Pettigrew syndrome ClinVar PMID:25741868 NCBI chr  X:117,287,481...117,326,688
Ensembl chr  X:117,287,484...117,326,688 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Dandy-Walker syndrome 30
        syndromic X-linked intellectual disability 5 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              developmental disorder of mental health 5554
                specific developmental disorder 4517
                  intellectual disability 4299
                    X-Linked Intellectual Developmental Disorders 808
                      syndromic X-linked intellectual disability 618
                        syndromic X-linked intellectual disability 5 2
paths to the root