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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 the TBX22 gene on chromosome Xq21.1.
Synonyms: cleft palate-coloboma-deafness syndrome, CHARGE-like syndrome, X-linked
Xenbase Genes
:
tbx22
| MIM:302905 - ABRUZZO-ERICKSON SYNDROME; ABERS |
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)