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DOID:0060485 - Mowat-Wilson syndrome
Disease Ontology 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.
Synonyms: Hirschsprung disease mental retardation syndrome, microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease,
Xenbase Genes
:
zeb2
| MONDO:0009341 - Mowat-Wilson syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)