FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Joubert syndrome with orofaciodigital defect ID (Ontology) DOID:0060376 (Human Disease)
Definition A Joubert syndrome that is characterized by orofaciodigital defect.
Also Known As "OFD6" ; "orofaciodigital syndrome VI" ; "Polydactyly cleft lip palate psychomotor retardation" (for all, see Synonyms field below)
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ciliopathy_____
brain disease__|
               Joubert syndrome
                |__Joubert syndrome with orofaciodigital defect
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Synonyms
  • "OFD6" EXACT OMO:0003012
    "orofaciodigital syndrome VI" EXACT
    "Polydactyly cleft lip palate psychomotor retardation" EXACT
    "Varadi syndrome" EXACT
    "Varadi-Papp syndrome" EXACT
Secondary IDs
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GARD:4412
MESH:C536531
MIM:277170
NCI:C124841
ORDO:2754
SNOMEDCT_US_2023_03_01:721873007
UMLS_CUI:C2745997