Search Ontology:
Human Disease
orofaciodigital syndrome XX
- Term ID
- DOID:0060962
- Synonyms
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- 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. https://pubmed.ncbi.nlm.nih.gov/37384395/
- References
- Ontology
- Human Disease ( DOID:0060962 )
- is a type of
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