loading...| Preferred Name |
Mucopolysaccharidosis VII |
|
| Synonyms |
Disease, Sly Deficiency, GUSB Mucopolysaccharidosis Type VIIs Sly Disease beta-Glucuronidase Deficiencies GUSB Deficiency Deficiencies, beta-Glucuronidase Type VIIs, Mucopolysaccharidosis Deficiency, beta-Glucuronidase Type VII, Mucopolysaccharidosis Mucopolysaccharidosis VIIs beta-Glucuronidase Deficiency GUSB Deficiencies Mucopolysaccharidosis 7 Deficiencies, GUSB VIIs, Mucopolysaccharidosis beta Glucuronidase Deficiency Mucopolysaccharidosis Type VII Syndrome, Sly Sly Syndrome |
|
| Definitions |
Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D016538 |
|
| altLabel |
Disease, Sly Deficiency, GUSB Mucopolysaccharidosis Type VIIs Sly Disease beta-Glucuronidase Deficiencies GUSB Deficiency Deficiencies, beta-Glucuronidase Type VIIs, Mucopolysaccharidosis Deficiency, beta-Glucuronidase Type VII, Mucopolysaccharidosis Mucopolysaccharidosis VIIs beta-Glucuronidase Deficiency GUSB Deficiencies Mucopolysaccharidosis 7 Deficiencies, GUSB VIIs, Mucopolysaccharidosis beta Glucuronidase Deficiency Mucopolysaccharidosis Type VII Syndrome, Sly Sly 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 |
C0085132 |
|
| DC |
1 |
|
| definition |
Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase. |
|
| DX |
19920101 |
|
| HN |
92 |
|
| 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 |
|
| Machine permutation |
92 |
|
| MDA |
19910621 |
|
| MMR |
20130708 |
|
| MN |
C17.300.550.575.675 C18.452.648.202.715.675 C16.320.565.595.600.675 C16.320.565.202.715.675 C18.452.648.595.600.675 |
|
| notation |
D016538 |
|
| prefLabel |
Mucopolysaccharidosis VII |
|
| TERMUI |
T049488 T049487 T049489 T819012 T819011 T819013 T049486 |
|
| TH |
OMIM (2013) NLM (1992) NLM (2013) GHR (2014) |
|
| tui |
T047 |
|
| subClassOf |