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orofaciodigital syndrome type 6

Disease Summary
Associated Targets (7)
Tbio

6

Tclin

1


GARD Rare
Mondo Description 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.
Uniprot Description A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD6 is characterized by metacarpal abnormalities with central polydactyly, cerebellar abnormalities including the molar tooth sign, tongue hamartomas, additional frenula, and upper lip notch.
Disease Ontology Description A Joubert syndrome that is characterized by orofaciodigital defect.
Mondo Term and Equivalent IDs
MONDO:0010176:  orofaciodigital syndrome type 6
GARD:0004412: 
MESH:C536531: 
NCIT:C124841: 
Orphanet:2754: 
SCTID:721873007: 
UMLS:C2745997: