Search on: POLYDYSTROPHIC DWARFISM 
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Descriptor English:   Mucopolysaccharidosis VI 
Descriptor Spanish:   Mucopolisacaridosis VI 
Descriptor Portuguese:   Mucopolissacaridose VI 
Synonyms English:   Polydystrophic Dwarfism
Maroteaux-Lamy Syndrome  
Tree Number:   C16.320.565.202.715.670
C16.320.565.595.600.670
C17.300.550.575.670
C18.452.648.202.715.670
C18.452.648.595.600.670
Definition English:   Mucopolysaccharidosis with excessive CHONDROITIN SULFATE B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-ACETYLGALACTOSAMINE-4-SULFATASE (arylsulfatase B). 
History Note English:   92; was MUCOPOLYSACCHARIDOSIS 6 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90 
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:   30391 
Unique Identifier:   D009087 

Occurrence in VHL: 		 

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