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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)
