Search on: HALL-PALLISTER SYNDROME 
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Descriptor English:   Pallister-Hall Syndrome 
Descriptor Spanish:   Síndrome de Pallister-Hall 
Descriptor Portuguese:   Síndrome de Pallister-Hall 
Synonyms English:   CAVE Complex
Cerebroacrovisceral Early Lethality Complex
Hall-Pallister Syndrome
Hypothalamic Hamartoblastoma Syndrome
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
CAVE Complices
Complex, CAVE
Complices, CAVE
Hall Pallister Syndrome
Hamartoblastoma Syndrome, Hypothalamic
Hamartoblastoma Syndromes, Hypothalamic
Hypothalamic Hamartoblastoma Syndromes
Pallister Hall Syndrome
Syndrome, Hall-Pallister
Syndrome, Hypothalamic Hamartoblastoma
Syndrome, Pallister-Hall
Syndromes, Hypothalamic Hamartoblastoma  
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53053 
Unique Identifier:   D054975 

Occurrence in VHL:
 

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