Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:syndromic X-linked intellectual disability 5
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
syndromic X-linked intellectual disability 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 JBrowse link X 32,329,883 32,376,301 RGD:7240710
RGD:8554872
RGD:11554173
G Cul4b cullin 4B JBrowse link X 124,831,391 124,870,329 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Dandy-Walker syndrome 17
        syndromic X-linked intellectual disability 5 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              developmental disorder of mental health 2710
                specific developmental disorder 1882
                  intellectual disability 1705
                    syndromic intellectual disability 672
                      Mental Retardation, X-Linked 656
                        syndromic X-linked intellectual disability 582
                          syndromic X-linked intellectual disability 5 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.