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- B2ace282e57ef91f52f8b67cf0aaf16b2 hasDbXref "Orphanet:2754" @default.
- B2ace282e57ef91f52f8b67cf0aaf16b2 type Axiom @default.
- B2ace282e57ef91f52f8b67cf0aaf16b2 annotatedProperty IAO_0000115 @default.
- B2ace282e57ef91f52f8b67cf0aaf16b2 annotatedSource MONDO_0010176 @default.
- B2ace282e57ef91f52f8b67cf0aaf16b2 annotatedTarget "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." @default.