Search on: CILIOPATHIES 
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Descriptor English:   Ciliopathies 
Descriptor Spanish:   ciliopatías 
Descriptor Portuguese:   Ciliopatias 
Synonyms English:   Ciliopathy  
Tree Number:   C16.131.077.245
C16.320.184
Definition English:   Genetic disorders caused by defects in genes related to the primary CILIUM; BASAL BODY; or CENTROSOME. Primary features may include obesity, SKELETAL DYSPLASIA; POLYDACTYLY and malformations that primarily involve the liver, eye or kidneys. 
See Related English:   Ciliary Motility Disorders
 
History Note English:   2017 
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:   56400 
Unique Identifier:   D000072661 

Occurrence in VHL:
 

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