Search on: N-ACETYLTRANSFERASE DEFICIENCY, ACETYL-COA:ALPHA-GLUCOSAMINIDE 
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Descriptor English:   Mucopolysaccharidosis III 
Descriptor Spanish:   Mucopolisacaridosis III 
Descriptor Portuguese:   Mucopolissacaridose III 
Synonyms English:   Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency
Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
Deficiencies, N-Acetyl-alpha-D-Glucosaminidase
Deficiencies, N-Acetylglucosamine-6-Sulfatase
Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase
Deficiencies, NAGLU
Deficiencies, Sulfamidase
Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
Deficiency, N-Acetyl-alpha-D-Glucosaminidase
Deficiency, N-Acetylglucosamine-6-Sulfatase
Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase
Deficiency, NAGLU
Deficiency, Sulfamidase
Heparan Sulfate Sulfatase Deficiency
MPS 3 A
MPS 3 B
MPS 3 C
MPS 3 D
MPS III A
MPS III B
MPS III C
MPS III D
MPS IIIA
MPS IIIB
MPS IIIC
MPS IIID
MPS IIIDs
MPS3A
MPS3B
MPS3C
Mucopolysaccharidosis 3
Mucopolysaccharidosis IIIs
Mucopolysaccharidosis Type 3 A
Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome
Mucopolysaccharidosis Type 3 B
Mucopolysaccharidosis Type 3 C
Mucopolysaccharidosis Type 3 D
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIAs
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIBs
Mucopolysaccharidosis Type IIIC
Mucopolysaccharidosis Type IIICs
Mucopolysaccharidosis Type IIID
Mucopolysaccharidosis Type IIIDs
N Acetyl alpha D Glucosaminidase Deficiency
N Acetylglucosamine 6 Sulfatase Deficiency
N Acetylglucosamine 6 Sulfate Sulfatase Deficiency
N-Acetyl-alpha-D-Glucosaminidase Deficiencies
N-Acetyl-alpha-D-Glucosaminidase Deficiency
N-Acetylglucosamine-6-Sulfatase Deficiencies
N-Acetylglucosamine-6-Sulfatase Deficiency
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency
N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide
N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide
NAGLU Deficiencies
NAGLU Deficiency
Oligophrenia, Polydystrophic
Oligophrenias, Polydystrophic
Polydystrophic Oligophrenia
Polydystrophic Oligophrenias
San Filippo Syndrome
San Filippo's Syndrome
San Filippos Syndrome
Sanfilippo Syndrome
Sanfilippo Syndrome A
Sanfilippo Syndrome B
Sanfilippo Syndrome C
Sanfilippo Syndrome D
Sanfilippo Syndromes
Sanfilippo's Syndrome
Sanfilippos Syndrome
Sulfamidase Deficiencies
Sulfamidase Deficiency
Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate
Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate
Syndrome, San Filippo's
Syndrome, Sanfilippo
Syndrome, Sanfilippo's
Syndromes, Sanfilippo  
Tree Number:   C16.320.565.202.715.650
C16.320.565.595.600.650
C17.300.550.575.650
C18.452.648.202.715.650
C18.452.648.595.600.650
Definition English:   Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. 
History Note English:   92; was MUCOPOLYSACCHARIDOSIS 3 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90 
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:   30389 
Unique Identifier:   D009084 

Occurrence in VHL:
 

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