Medical Subject Headings

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MESH/D009084
http://purl.bioontology.org/ontology/MESH/D009084
Preferred Name

Mucopolysaccharidosis III
Definitions
Mucopolysaccharidosis characterized by HEPARAN 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.
Synonyms
Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome
N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide
MPS3C
Deficiencies, Sulfamidase
Sanfilippo Syndromes
Sanfilippo Syndrome
MPS III B
MPS III D
Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
Sanfilippo's Syndrome
Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase
Mucopolysaccharidosis Type IIIC
Mucopolysaccharidosis IIIs
Deficiencies, N-Acetyl-alpha-D-Glucosaminidase
Syndrome, Sanfilippo's
Sanfilippo Syndrome A
Mucopolysaccharidosis Type 3 A
N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide
N-Acetyl-alpha-D-Glucosaminidase Deficiency
MPS 3 A
Sanfilippos Syndrome
N-Acetylglucosamine-6-Sulfatase Deficiency
Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate
Mucopolysaccharidosis Type IIICs
Deficiency, N-Acetylglucosamine-6-Sulfatase
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency
Syndrome, Sanfilippo
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies
MPS IIID
Polydystrophic Oligophrenia
MPS III C
N-Acetyl-alpha-D-Glucosaminidase Deficiencies
Deficiency, NAGLU
Sanfilippo Syndrome C
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency
Mucopolysaccharidosis Type IIIB
Sulfamidase Deficiency
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIBs
MPS3B
Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate
Deficiency, Sulfamidase
Mucopolysaccharidosis Type 3 B
Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency
N Acetyl alpha D Glucosaminidase Deficiency
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies
NAGLU Deficiency
San Filippo Syndrome
MPS IIIB
Deficiency, N-Acetyl-alpha-D-Glucosaminidase
NAGLU Deficiencies
N-Acetylglucosamine-6-Sulfatase Deficiencies
Sanfilippo Syndrome B
Deficiencies, NAGLU
MPS III A
Mucopolysaccharidosis 3
Deficiencies, N-Acetylglucosamine-6-Sulfatase
MPS 3 C
Oligophrenias, Polydystrophic
Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase
Mucopolysaccharidosis Type IIIDs
MPS 3 B
Mucopolysaccharidosis Type IIID
Mucopolysaccharidosis Type 3 C
Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
Heparan Sulfate Sulfatase Deficiency
Sulfamidase Deficiencies
MPS IIIC
MPS IIIDs
MPS 3 D
N Acetylglucosamine 6 Sulfatase Deficiency
Syndrome, San Filippo's
Polydystrophic Oligophrenias
Mucopolysaccharidosis Type IIIAs
N Acetylglucosamine 6 Sulfate Sulfatase Deficiency
San Filippos Syndrome
San Filippo's Syndrome
Syndromes, Sanfilippo
Mucopolysaccharidosis Type 3 D
Sanfilippo Syndrome D
MPS IIIA
MPS3A
Oligophrenia, Polydystrophic
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Type http://www.w3.org/2002/07/owl#Class

All Properties

definition

Mucopolysaccharidosis characterized by HEPARAN 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.
altLabel
Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome
N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide
MPS3C
Deficiencies, Sulfamidase
Sanfilippo Syndromes
Sanfilippo Syndrome
MPS III B
MPS III D
Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
Sanfilippo's Syndrome
Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase
Mucopolysaccharidosis Type IIIC
Mucopolysaccharidosis IIIs
Deficiencies, N-Acetyl-alpha-D-Glucosaminidase
Syndrome, Sanfilippo's
Sanfilippo Syndrome A
Mucopolysaccharidosis Type 3 A
N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide
N-Acetyl-alpha-D-Glucosaminidase Deficiency
MPS 3 A
Sanfilippos Syndrome
N-Acetylglucosamine-6-Sulfatase Deficiency
Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate
Mucopolysaccharidosis Type IIICs
Deficiency, N-Acetylglucosamine-6-Sulfatase
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency
Syndrome, Sanfilippo
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies
MPS IIID
Polydystrophic Oligophrenia
MPS III C
N-Acetyl-alpha-D-Glucosaminidase Deficiencies
Deficiency, NAGLU
Sanfilippo Syndrome C
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency
Mucopolysaccharidosis Type IIIB
Sulfamidase Deficiency
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIBs
MPS3B
Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate
Deficiency, Sulfamidase
Mucopolysaccharidosis Type 3 B
Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency
N Acetyl alpha D Glucosaminidase Deficiency
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies
NAGLU Deficiency
San Filippo Syndrome
MPS IIIB
Deficiency, N-Acetyl-alpha-D-Glucosaminidase
NAGLU Deficiencies
N-Acetylglucosamine-6-Sulfatase Deficiencies
Sanfilippo Syndrome B
Deficiencies, NAGLU
MPS III A
Mucopolysaccharidosis 3
Deficiencies, N-Acetylglucosamine-6-Sulfatase
MPS 3 C
Oligophrenias, Polydystrophic
Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase
Mucopolysaccharidosis Type IIIDs
MPS 3 B
Mucopolysaccharidosis Type IIID
Mucopolysaccharidosis Type 3 C
Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
Heparan Sulfate Sulfatase Deficiency
Sulfamidase Deficiencies
MPS IIIC
MPS IIIDs
MPS 3 D
N Acetylglucosamine 6 Sulfatase Deficiency
Syndrome, San Filippo's
Polydystrophic Oligophrenias
Mucopolysaccharidosis Type IIIAs
N Acetylglucosamine 6 Sulfate Sulfatase Deficiency
San Filippos Syndrome
San Filippo's Syndrome
Syndromes, Sanfilippo
Mucopolysaccharidosis Type 3 D
Sanfilippo Syndrome D
MPS IIIA
MPS3A
Oligophrenia, Polydystrophic
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prefLabel
Mucopolysaccharidosis III
Machine permutation
92; was MUCOPOLYSACCHARIDOSIS 3 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90
HN
92; was MUCOPOLYSACCHARIDOSIS 3 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90
type
tui
T047
TERMUI
T783003
T027146
T783006
T027144
T783020
T027150
T027147
T783019
T027151
T825080
T783028
T825075
T783002
T783011
T783025
T027145
T825081
T812014
T783005
T825078
T783022
T783004
T783018
T783017
T825074
T783007
T825082
T783023
T027143
T783012
T783009
T783001
T783026
T783010
T783021
T027149
T783027
T843588
T825079
T027148
T812007
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TH
OMIM (2013)
NLM (1991)
NLM (2012)
NLM (1975)
NLM (1992)
UNK (19XX)
NLM (2013)
GHR (2014)
ORD (2010)
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MMR
20260101
notation
D009084
Semantic type UMLS property
Inverse of AQ
http://purl.bioontology.org/ontology/MESH/Q000097
http://purl.bioontology.org/ontology/MESH/Q000178
http://purl.bioontology.org/ontology/MESH/Q000175
http://purl.bioontology.org/ontology/MESH/Q000628
http://purl.bioontology.org/ontology/MESH/Q000276
http://purl.bioontology.org/ontology/MESH/Q000134
http://purl.bioontology.org/ontology/MESH/Q000139
http://purl.bioontology.org/ontology/MESH/Q000266
http://purl.bioontology.org/ontology/MESH/Q000378
http://purl.bioontology.org/ontology/MESH/Q000517
http://purl.bioontology.org/ontology/MESH/Q000662
http://purl.bioontology.org/ontology/MESH/Q000469
http://purl.bioontology.org/ontology/MESH/Q000150
http://purl.bioontology.org/ontology/MESH/Q000821
http://purl.bioontology.org/ontology/MESH/Q000191
http://purl.bioontology.org/ontology/MESH/Q000196
http://purl.bioontology.org/ontology/MESH/Q000473
http://purl.bioontology.org/ontology/MESH/Q000145
http://purl.bioontology.org/ontology/MESH/Q000382
http://purl.bioontology.org/ontology/MESH/Q000451
http://purl.bioontology.org/ontology/MESH/Q000453
http://purl.bioontology.org/ontology/MESH/Q000534
http://purl.bioontology.org/ontology/MESH/Q000532
http://purl.bioontology.org/ontology/MESH/Q000503
http://purl.bioontology.org/ontology/MESH/Q000188
http://purl.bioontology.org/ontology/MESH/Q000235
http://purl.bioontology.org/ontology/MESH/Q000201
http://purl.bioontology.org/ontology/MESH/Q000209
http://purl.bioontology.org/ontology/MESH/Q000208
http://purl.bioontology.org/ontology/MESH/Q000601
http://purl.bioontology.org/ontology/MESH/Q000000981
http://purl.bioontology.org/ontology/MESH/Q000652
http://purl.bioontology.org/ontology/MESH/Q000523
http://purl.bioontology.org/ontology/MESH/Q000401
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DX
19910101
cui
C0026706
C0086648
C0086647
C0086650
C0086649
DC
1
MN
C17.300.550.575.650
C18.452.648.595.600.650
C16.320.565.202.715.650
C18.452.648.202.715.650
C16.320.565.595.600.650
AQL
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
OL
use MUCOPOLYSACCHARIDOSIS III to search MUCOPOLYSACCHARIDOSIS 3 1975-91
MDA
19990101
subClassOf
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