loading...| Preferred Name |
Mucopolysaccharidosis III |
| Synonyms |
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D009084 |
| altLabel |
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide Mucopolysaccharidosis Type 3 D Deficiencies, Sulfamidase Oligophrenias, Polydystrophic Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency, Sulfamidase MPS3C Syndrome, Sanfilippo Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency Mucopolysaccharidosis Type 3 A N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide Sanfilippo Syndrome Sanfilippo Syndrome C Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Mucopolysaccharidosis Type IIIDs MPS IIID MPS3B Mucopolysaccharidosis Type IIIAs Mucopolysaccharidosis Type IIIB MPS 3 D MPS IIIDs N-Acetyl-alpha-D-Glucosaminidase Deficiency MPS 3 A MPS3A Sulfamidase Deficiency Oligophrenia, Polydystrophic Deficiencies, N-Acetyl-alpha-D-Glucosaminidase Syndrome, Sanfilippo's Sanfilippo Syndrome A N-Acetyl-alpha-D-Glucosaminidase Deficiencies Deficiencies, N-Acetylglucosamine-6-Sulfatase N-Acetylglucosamine-6-Sulfatase Deficiencies San Filippos Syndrome Mucopolysaccharidosis Type 3 C MPS IIIB N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies Mucopolysaccharidosis Type IIIA MPS III C N Acetyl alpha D Glucosaminidase Deficiency MPS III A Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency MPS IIIA Sanfilippo Syndrome D N Acetylglucosamine 6 Sulfate Sulfatase Deficiency Mucopolysaccharidosis Type IIICs Mucopolysaccharidosis Type IIID Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase MPS 3 C Deficiency, N-Acetyl-alpha-D-Glucosaminidase Sulfamidase Deficiencies Sanfilippos Syndrome Polydystrophic Oligophrenias Mucopolysaccharidosis 3 Deficiencies, NAGLU Sanfilippo Syndromes Syndromes, Sanfilippo Sanfilippo Syndrome B Polydystrophic Oligophrenia Mucopolysaccharidosis Type 3 B Mucopolysaccharidosis IIIs Mucopolysaccharidosis Type IIIBs Mucopolysaccharidosis Type IIIC Heparan Sulfate Sulfatase Deficiency MPS 3 B NAGLU Deficiency MPS III D N-Acetylglucosamine-6-Sulfatase Deficiency NAGLU Deficiencies N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency MPS III B Deficiency, N-Acetylglucosamine-6-Sulfatase Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate Deficiency, NAGLU MPS IIIC San Filippo's Syndrome N Acetylglucosamine 6 Sulfatase Deficiency Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase San Filippo Syndrome Sanfilippo's Syndrome Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate Syndrome, San Filippo's |
| 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 |
| cui |
C0026706 C0086648 C0086649 C0086647 C0086650 |
| DC |
1 |
| definition |
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. |
| DX |
19910101 |
| HN |
92; was MUCOPOLYSACCHARIDOSIS 3 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D009085 http://purl.bioontology.org/ontology/MESH/D009087 http://purl.bioontology.org/ontology/MESH/D016532 |
| Machine permutation |
92; was MUCOPOLYSACCHARIDOSIS 3 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90 |
| MDA |
19741212 |
| MMR |
20160628 |
| MN |
C16.320.565.595.600.650 C17.300.550.575.650 C18.452.648.595.600.650 C18.452.648.202.715.650 C16.320.565.202.715.650 |
| notation |
D009084 |
| OL |
use MUCOPOLYSACCHARIDOSIS III to search MUCOPOLYSACCHARIDOSIS 3 1975-91 |
| prefLabel |
Mucopolysaccharidosis III |
| TERMUI |
T783018 T783004 T825078 T783002 T812007 T027149 T825080 T783023 T783006 T783021 T783025 T027148 T783017 T825081 T825074 T027147 T783003 T027150 T783027 T783011 T843588 T783019 T825075 T812014 T783005 T027146 T783020 T783026 T783009 T783007 T027151 T783001 T783010 T027145 T825079 T783028 T825082 T027143 T783012 T783022 T027144 |
| TH |
NLM (2013) NLM (1975) NLM (1991) UNK (19XX) NLM (1992) NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |