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DOID:0060290 - Ohdo syndrome, SBBYS variant
Disease Ontology Definition:A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22.
Synonyms: Ohdo syndrome, SBBYS Variant, SBBYSS, Say-Barber-Biesecker-Young-Simpson syndrome, blepharophimosis-intellectual disability syndrome, SBBYS type,
Xenbase Genes
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| MONDO:0011365 - blepharophimosis - intellectual disability syndrome, SBBYS type |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Ohdo syndrome (is_a)