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ONTOLOGY REPORT - ANNOTATIONS


Term:Wilson-Turner syndrome
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Accession:DOID:0060814 term browser browse the term
Definition:A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. (DO)
Synonyms:exact_synonym: MRXS6;   WTS;   Wilson Turner mental retardation syndrome;   Wilson-Turner X-linked mental retardation syndrome;   X-linked intellectual disability-gynecomastia-obesity syndrome;   X-linked mental retardation, syndromic 6;   X-linked mental retardation, with gynecomastia and obesity
 primary_id: MESH:C536708
 alt_id: OMIM:309585;   RDO:0002367
 xref: GARD:5579;   ORDO:3459
For additional species annotation, visit the Alliance of Genome Resources.


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Wilson-Turner syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hdac8 histone deacetylase 8 JBrowse link X 72,163,777 72,370,058 RGD:8554872
RGD:13208817
G Las1l LAS1-like, ribosome biogenesis factor JBrowse link X 65,081,591 65,102,344 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      Wilson-Turner syndrome 2
Path 2
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  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            disease of mental health 5531
              developmental disorder of mental health 2718
                specific developmental disorder 1890
                  intellectual disability 1712
                    syndromic intellectual disability 674
                      Mental Retardation, X-Linked 656
                        syndromic X-linked intellectual disability 582
                          Wilson-Turner syndrome 2
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