Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


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;   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;   RDO:0002725
 xref: GARD:9673;   NCI:C74999;   ORDO:2152
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GTDC1 glycosyltransferase like domain containing 1 JBrowse link 2 143,944,414 144,333,069 RGD:8554872
G LINC01412 long intergenic non-protein coding RNA 1412 JBrowse link 2 144,521,868 144,579,434 RGD:8554872
G TEX41 testis expressed 41 JBrowse link 2 144,667,967 145,076,729 RGD:8554872
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 2 144,384,081 144,520,119 RGD:8554872
G ZEB2-AS1 ZEB2 antisense RNA 1 JBrowse link 2 144,519,614 144,520,899 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16491
    syndrome 5720
      Mowat-Wilson syndrome 5
Path 2
Term Annotations click to browse term
  disease 16491
    Developmental Diseases 10318
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8461
        genetic disease 7932
          monogenic disease 5321
            autosomal genetic disease 4094
              autosomal dominant disease 2419
                complex cortical dysplasia with other brain malformations 529
                  Malformations of Cortical Development, Group I 370
                    microcephaly 234
                      Mowat-Wilson syndrome 5
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.