Joubert syndrome with orofaciodigital defect

Summary

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pde6d, cplane1, KIAA0753, ofd1, fam149b1, tmem216, kif7, tctn3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010176 - orofaciodigital syndrome type 6

MONDO:0010176 - orofaciodigital syndrome type 6

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Joubert syndrome (is_a)