Search on: OROFACIODIGITAL SYNDROMES 
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Descriptor English:   Orofaciodigital Syndromes 
Descriptor Spanish:   Síndromes Orofaciodigitales 
Descriptor Portuguese:   Síndromes Orofaciodigitais 
Synonyms English:   Gorlin-Psaume Syndrome
Mohr Syndrome
Papillon-Leage and Psaume Syndrome  
Tree Number:   C05.116.099.370.652
C05.660.207.700
C16.131.077.677
C16.131.260.830.670
C16.131.621.207.700
C16.320.180.830.670
Definition English:   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. 
Indexing Annotation English:   do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
History Note English:   79; was OROFACIODIGITAL SYNDROME see under ABNORMALITIES, MULTIPLE 1975-78; was OROFACIODIGITAL SYNDROME 1964-74 (Prov) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DH diet therapy DT drug therapy
EC economics EM embryology
EN enzymology EP epidemiology
EH ethnology ET etiology
GE genetics HI history
IM immunology ME metabolism
MI microbiology MO mortality
NU nursing PS parasitology
PA pathology PP physiopathology
PC prevention & control PX psychology
RA radiography RI radionuclide imaging
RT radiotherapy RH rehabilitation
SU surgery TH therapy
US ultrasonography UR urine
VE veterinary VI virology
Record Number:   10135 
Unique Identifier:   D009958 

Occurrence in VHL:
 

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