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General Information
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| Term |
Ohdo syndrome, SBBYS variant |
ID (Ontology) |
DOID:0060290 (Human Disease) |
| 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. |
| Also Known As |
"blepharophimosis-intellectual disability syndrome, SBBYS type" ; "Say-Barber-Biesecker-Young-Simpson syndrome" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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Ohdo syndrome, SBBYS variant | 1 | for disease ribbon | Ohdo syndrome, SBBYS variant | 1 | model of | Ohdo syndrome, SBBYS variant | 1 |
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Relationships