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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: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;   MRXSWT;   WTS;   Wilson Turner mental retardation syndrome;   Wilson-Turner X-linked mental retardation syndrome;   X-linked intellectual disability-gynecomastia-obesity syndrome;   X-linked mental retardation, with gynecomastia and obesity;   syndromic X-linked intellectual developmental disorder, Wilson-Turner type;   syndromic X-linked mental retardation 6
 primary_id: MESH:C536708
 alt_id: OMIM:309585
 xref: GARD:5579;   ORDO:3459


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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:67,385,288...67,593,014
Ensembl chr  X:67,385,289...67,592,923 		JBrowse link
G Las1l LAS1-like, ribosome biogenesis factor ISO ClinVar Annotator: match by term: Wilson-Turner syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:60,851,969...60,873,717
Ensembl chr  X:60,851,962...60,873,687 		JBrowse link
G Zc3h12b zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chr  X:60,615,616...60,849,278
Ensembl chr  X:60,615,682...60,844,832 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Wilson-Turner syndrome 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              developmental disorder of mental health 5542
                specific developmental disorder 4504
                  intellectual disability 4289
                    X-Linked Intellectual Developmental Disorders 806
                      syndromic X-linked intellectual disability 616
                        Wilson-Turner syndrome 3
paths to the root