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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 TBX22 on chromosome Xq21.1.

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

Referenced OMIM:
OMIM:302905 - ABRUZZO-ERICKSON SYNDROME; ABERS

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

Xenbase Genes : tbx22

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): X-linked disease (is_a), syndrome (is_a)


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