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Core Information
Disease Name
Orofaciodigital Syndromes
Standard Disease Name
orofaciodigital syndromes
MeSH Tree
No data
ICD-10
No data
Identifiers
DO ID
No data
MeSH ID
D009958
OMIM ID
No data
UMLS ID
C0029294
HPO ID
No data
Description and Extensions
Description
MSH2017_2016_08_12: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.
Related
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