Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Ohdo syndrome, SBBYS variant
Summary
- Synonym
-
- Say-Barber-Biesecker-Young-Simpson syndrome
- blepharophimosis-intellectual disability syndrome, SBBYS type
- 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.
- Super Class
- Ohdo syndrome
External Links
- Disease Ontology
- DOID:0060290
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
