ONTOLOGY REPORT - ANNOTATIONS


Term:Mowat-Wilson syndrome
go back to main search page
Accession:DOID:0060485 term browser browse the term
Definition:A syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease, genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. It 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;   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 3 29,410,426 29,705,981 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:7240710
RGD:8554872
RGD:11554173
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand JBrowse link 3 29,994,753 29,997,626 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Mowat-Wilson syndrome 3
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    Mowat-Wilson syndrome 3
paths to the root

NHLBI Logo

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