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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Joubert syndrome with orofaciodigital defect  
Juberg Hayward Syndrome  
Mohr Syndrome  
Orofaciodigital Syndrome 12 
Orofaciodigital Syndrome 13 
orofaciodigital syndrome I  
orofaciodigital syndrome III  
orofaciodigital syndrome IV  
orofaciodigital syndrome IX  
orofaciodigital syndrome V  
orofaciodigital syndrome VII 
orofaciodigital syndrome VIII 
orofaciodigital syndrome X 
orofaciodigital syndrome XI 
Orofaciodigital Syndrome XIV  
Orofaciodigital Syndrome XIX  
Orofaciodigital Syndrome XV  
orofaciodigital syndrome XVI  
orofaciodigital syndrome XVII  
Orofaciodigital Syndrome XVIII  
Orofaciodigital Syndrome XX  
A syndrome characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones. Caused by homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11.

Synonyms
Exact Synonyms: OFD20
Primary IDs: OMIM:620718
Definition Sources: OMIM:620718

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