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   new 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

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:Mowat-Wilson syndrome
go back to main search page
Accession:DOID:0060485 term browser browse the term
Definition:A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. (DO)
Synonyms:exact_synonym: Hirschsprung disease mental retardation syndrome;   MOWS;   ZEB2-RELATED CONDITION;   microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease;   microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease
 narrow_synonym: Hirschsprung disease-mental retardation syndrome, late infantile
 primary_id: MESH:C536990
 alt_id: OMIM:235730
 xref: GARD:9673;   NCI:C74999;   ORDO:2152


show annotations for term's descendants           Sort by:
Mowat-Wilson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp activity-dependent neuroprotector homeobox ISO ClinVar Annotator: match by term: Hirschsprung disease mental retardation syndrome ClinVar PMID:25741868 NCBI chr 3:156,886,921...156,921,500
Ensembl chr 3:156,891,381...156,917,312 		JBrowse link
G Arhgap15 Rho GTPase activating protein 15 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,989,368...28,592,722
Ensembl chr 3:27,989,633...28,600,265 		JBrowse link
G Gtdc1 glycosyltransferase-like domain containing 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:28,766,640...29,161,668
Ensembl chr 3:28,766,645...29,162,271 		JBrowse link
G Hnmt histamine N-methyltransferase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Kynu kynureninase ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Nxph2 neurexophilin 2 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:5,986,175...5,988,525
Ensembl chr 3:5,756,621...5,987,008 		JBrowse link
G Spopl speckle type BTB/POZ protein like ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr 3:6,074,681...6,148,508
Ensembl chr 3:6,078,310...6,108,794 		JBrowse link
G Thsd7b thrombospondin type 1 domain containing 7B ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar NCBI chr13:40,768,567...41,667,262
Ensembl chr13:40,768,570...41,666,501 		JBrowse link
G Zeb2 zinc finger E-box binding homeobox 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:235730
ClinVar Annotator: match by term: Mowat-Wilson syndrome | ClinVar Annotator: match by term: ZEB2-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:2030158 PMID:9536098 PMID:9719364 PMID:11279515 PMID:11448942 More... NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157 		JBrowse link
G Zeb2-as1 ZEB2 antisense RNA 1 ISO ClinVar Annotator: match by term: Mowat-Wilson syndrome ClinVar PMID:12920073 NCBI chr 3:29,343,078...29,345,943 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Mowat-Wilson syndrome 11
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                complex cortical dysplasia with other brain malformations 1588
                  Malformations of Cortical Development, Group I 1373
                    microcephaly 1124
                      Mowat-Wilson syndrome 11
paths to the root