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DOID:0060376 - Joubert syndrome with orofaciodigital defect
Disease Ontology Definition:A Joubert syndrome that is characterized by orofaciodigital defect.
Synonyms: OFD6, orofaciodigital syndrome VI, Polydactyly cleft lip palate psychomotor retardation, Varadi-Papp syndrome, Varadi syndrome
Xenbase Genes
:
pde6d,
cplane1,
KIAA0753,
ofd1,
fam149b1,
tmem216,
kif7,
tctn3
| MONDO:0010176 - orofaciodigital syndrome type 6 |
| MIM:277170 - OROFACIODIGITAL SYNDROME VI; OFD6 |
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)