Search on: PALLISTER-HALL SYNDROME 
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Descriptor English:   Pallister-Hall Syndrome 
Descriptor Spanish:   Síndrome de Pallister-Hall 
Descriptor Portuguese:   Síndrome de Pallister-Hall 
Tree Number:   C04.445.622
C04.588.614.250.195.885.500.299
C05.660.585.600.374
C10.228.140.211.885.500.299
C10.228.140.617.477.299
C10.551.240.250.700.500.249
C16.131.077.690
C16.131.621.585.600.374
Definition English:   A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member. 
History Note English:   2009 
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:   53053 
Unique Identifier:   D054975 

Occurrence in VHL: 		 

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