FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term orofaciodigital syndrome XX ID (Ontology) DOID:0060962 (Human Disease)
Definition An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11.
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 orofaciodigital syndrome XX       1
 for disease ribbon | orofaciodigital syndrome XX       1
 model of | orofaciodigital syndrome XX       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
syndrome                         |
 |__orofaciodigital syndrome_____|
                                 orofaciodigital syndrome XX  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
orofaciodigital syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
MIM:620718