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Disease Ontology Browser
Abruzzo-Erickson syndrome (DOID:0111826)
Alliance: disease page
Synonyms: CHARGE-like syndrome, X-linked; cleft palate-coloboma-deafness syndrome
Alt IDs: OMIM:302905, MESH:C535559, ORDO:921, UMLS_CUI:C1844862
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory