Search on: WATSON MILLER SYNDROME 
Descriptors Found: 1
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Descriptor English:   Alagille Syndrome 
Descriptor Spanish:   síndrome de Alagille 
Descriptor Portuguese:   Síndrome de Alagille 
Synonyms English:   Alagille Syndrome 1
Alagille Syndrome 2
Alagille Watson Syndrome
Alagille's Syndrome
Alagille-Watson Syndrome
Alagilles Syndrome
Arteriohepatic Dysplasia
Arteriohepatic Dysplasia (AHD)
Cardiovertebral Syndrome
Cholestasis with Peripheral Pulmonary Stenosis
Ductular Hypoplasia, Hepatic
Dysplasia, Arteriohepatic
Dysplasia, Arteriohepatic (AHD)
Hepatic Ductular Hypoplasia
Hepatic Ductular Hypoplasia, Syndromatic
Hepatofacioneurocardiovertebral Syndrome
Hypoplasia, Hepatic Ductular
Paucity of Interlobular Bile Ducts
Syndrome, Alagille
Syndrome, Alagille Watson
Syndrome, Alagille's
Syndrome, Alagille-Watson
Syndrome, Cardiovertebral
Syndrome, Hepatofacioneurocardiovertebral
Syndrome, Watson Alagille
Syndrome, Watson Miller
Watson Alagille Syndrome
Watson Miller Syndrome
Watson-Miller syndrome
syndrome, Watson-Miller  
Tree Number:   C06.130.120.135.250.125
C06.552.150.125
C14.240.400.044
C16.131.077.065
C16.131.240.400.044
C16.320.051
Definition English:   A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). 
History Note English:   92 
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:   30271 
Unique Identifier:   D016738 

Occurrence in VHL:
 

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