Abruzzo-Erickson syndrome

Summary

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 TBX22 on chromosome Xq21.1.

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

In OMIM:

OMIM:302905 - ABRUZZO-ERICKSON SYNDROME; ABERS

OMIM:302905 - ABRUZZO-ERICKSON SYNDROME; ABERS

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tbx22

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

Parent(s): X-linked disease (is_a), syndrome (is_a)