Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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: MIM:309585
 xref: GARD:5579;   ORDO:3459


show annotations for term's descendants           Sort by:
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:58,210,182...58,450,681
Ensembl chr  X:58,210,192...58,450,573 		JBrowse link
G LAS1L LAS1 like ribosome biogenesis factor ISO ClinVar Annotator: match by term: Wilson-Turner syndrome OMIM
ClinVar		 PMID:1746601 PMID:24647030 PMID:25644381 PMID:25741868 PMID:28492532 NCBI chr  X:51,753,600...51,773,416
Ensembl chr  X:51,741,965...51,773,411 		JBrowse link
G ZC3H12B zinc finger CCCH-type containing 12B ISO ClinVar Annotator: match by term: Wilson-Turner syndrome ClinVar NCBI chr  X:51,231,526...51,749,627
Ensembl chr  X:51,502,732...51,749,625 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15399
    syndrome 10327
      Wilson-Turner syndrome 3
Path 2
Term Annotations click to browse term
  disease 15399
    disease of anatomical entity 15091
      nervous system disease 13242
        central nervous system disease 11821
          brain disease 11102
            disease of mental health 8012
              developmental disorder of mental health 5461
                specific developmental disorder 4470
                  intellectual disability 4273
                    X-Linked Intellectual Developmental Disorders 811
                      syndromic X-linked intellectual disability 616
                        Wilson-Turner syndrome 3
paths to the root