loading...| Preferred Name |
Mucopolysaccharidosis VI |
| Synonyms |
Type 6, Mucopolysaccharidosis |
| Definitions |
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). |
| ID |
http://purl.bioontology.org/ontology/MESH/D009087 |
| altLabel |
Type 6, Mucopolysaccharidosis Arylsulfatase B Deficiencies Arylsulfatase B Deficiency Deficiency, N-Acetylgalactosamine-4-Sulfatase Dwarfism, Polydystrophic ARSB Deficiencies N-Acetylgalactosamine-4-Sulfatase Deficiencies Deficiencies, Arylsulfatase B Deficiency, ARSB Mucopolysaccharidosis 6 Type VI, Mucopolysaccharidosis ARSB Deficiency Mucopolysaccharidosis Type VI Deficiencies, N-Acetylgalactosamine-4-Sulfatase Deficiencies, ARSB N-Acetylgalactosamine-4-Sulfatase Deficiency Maroteaux-Lamy Syndrome Deficiency, Arylsulfatase B Mucopolysaccharidosis Type 6 Polydystrophic Dwarfism Syndrome, Maroteaux-Lamy Maroteaux Lamy Syndrome |
| 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 |
C0026709 |
| DC |
1 |
| definition |
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). |
| DX |
19910101 |
| HN |
92; was MUCOPOLYSACCHARIDOSIS 6 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/D009084 http://purl.bioontology.org/ontology/MESH/D016532 |
| Machine permutation |
92; was MUCOPOLYSACCHARIDOSIS 6 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90 |
| MDA |
19741212 |
| MMR |
20130708 |
| MN |
C17.300.550.575.670 C18.452.648.202.715.670 C16.320.565.202.715.670 C18.452.648.595.600.670 C16.320.565.595.600.670 |
| notation |
D009087 |
| OL |
use MUCOPOLYSACCHARIDOSIS VI to search MUCOPOLYSACCHARIDOSIS 6 1975-91 |
| prefLabel |
Mucopolysaccharidosis VI |
| TERMUI |
T751429 T027162 T751430 T027164 T822995 T819010 T027161 T751431 T027163 |
| TH |
NLM (1975) UNK (19XX) NLM (1992) NLM (2010) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |