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Summary Literature (0)
DOID:0111826 - Abruzzo-Erickson syndrome

Disease Ontology Definition:A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1.

Synonyms: CHARGE-like syndrome, X-linked, cleft palate-coloboma-deafness syndrome

Xenbase Genes : tbx22



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a), X-linked monogenic disease (is_a)