About   Help   FAQ
Disease Ontology Browser
Ohdo syndrome, SBBYS variant (DOID:0060290)
Alliance: disease page
Synonyms: blepharophimosis-intellectual disability syndrome, SBBYS type; Say-Barber-Biesecker-Young-Simpson syndrome; SBBYSS
Alt IDs: OMIM:603736, MESH:C536717, ORDO:3047, UMLS_CUI:C1863557
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory