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orofaciodigital syndrome

Disease Summary
Associated Targets (14)
Tbio

13

Tclin

1


GARD Rare
Mondo Description Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Disease Ontology Description A syndrome that is characterized by malformations of the face, oral cavity, and digits.
Mondo Term and Equivalent IDs
MONDO:0015375:  orofaciodigital syndrome
GARD:0010692: 
MESH:D009958: 
OMIMPS:311200: 
Orphanet:140997: 
SCTID:52868006: