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RGD uses the Human Disease Ontology (DO, 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: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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdac8 histone deacetylase 8 ISO DNA:snp:intron:c.164+5G>A (human) RGD PMID:22889856 RGD:13208817 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by OMIM:309585
ClinVar Annotator: match by term: Wilson-Turner X-linked mental retardation syndrome
PMID:1746601, PMID:25644381, PMID:25741868, PMID:28492532 NCBI chr  X:65,081,591...65,102,344
Ensembl chr  X:65,081,591...65,102,380
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Wilson-Turner syndrome 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        syndromic X-linked intellectual disability 587
                          Wilson-Turner syndrome 2
paths to the root


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