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Summary Literature (0)
DOID:0060376 - Joubert syndrome with orofaciodigital defect


Disease Ontology Definition:A Joubert syndrome that is characterized by orofaciodigital defect.

Synonyms: OFD6, Polydactyly cleft lip palate psychomotor retardation, Varadi syndrome, Varadi-Papp syndrome, orofaciodigital syndrome VI

In OMIM:
OMIM:277170 - OROFACIODIGITAL SYNDROME VI; OFD6

In Mondo Disease Ontology:
MONDO:0010176 - orofaciodigital syndrome type 6

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : pde6d, cplane1, kiaa0753, ofd1, fam149b1, tmem216, kif7, tctn3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Joubert syndrome (is_a)