loading...| Preferred Name |
Mucopolysaccharidosis VII |
|
| Synonyms |
|
|
| Definitions |
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036695 |
|
| Database_Cross_Reference |
MSH:D016538 OMIM:253220 ICD10CM:E76.29 MTH:NOCODE CSP:4001-0049 RCD:C3757 OMIM:611499 CSP:1849-6106 NCI:C84903 DO:DOID:12803 MDR:10056921 SNMI:D6-70260 MDR:10056893 CHV:0000015453 NDFRT:N0000003433 DXP:U001214 DXP:NOCODE SNOMEDCT_US:124470009 SNOMEDCT_US:43916004 JABL:468 MEDCIN:33590 |
|
| Definition |
A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. |
|
| label |
Mucopolysaccharidosis VII |
|
| MCID |
MC00043164 |
|
| PMOID |
PMO:00036695 |
|
| prefixIRI |
pmo:PMO_00036695 |
|
| prefLabel |
Mucopolysaccharidosis VII |
|
| Synonym |
Disease, Sly beta Glucuronidase Deficiency VIIs, Mucopolysaccharidosis SLY DIS Beta-Glucuronidase Deficiency Mucopolysaccharidosis type VII mucopolysaccharidosis type VII (diagnosis) Mucopolysaccharidosis, MPS-VII GUSB DEFICIENCY Deficiencies, beta-Glucuronidase SLY SYNDROME Deficiency, beta-Glucuronidase Mucopolysaccharidosis type VII (disorder) mucopolysaccharide storage disease VII Mucopolysaccharidosis 7 beta-Glucuronidase Deficiencies Mucopolysaccharidosis Type VII sly syndrome beta-Glucuronidase deficiency GUSB deficiency GUS deficiency mucopolysaccharidosis VII Deficiency of beta-glucuronidase GUSB Deficiencies Sly Disease beta-glucuronidase deficiency MPS VII - Mucopolysaccharidosis VII mucopolysaccharidosis type VII Type VIIs, Mucopolysaccharidosis Deficiencies, GUSB beta-Glucuronidase Deficiency Sly's syndrome deficiency of beta-glucuronidase Sly Syndrome MUCOPOLYSACCHARIDOSIS, TYPE VII Mucopolysaccharidosis VIIs MUCOPOLYSACCHARIDOSIS VII Deficiency of beta-glucuronidase (disorder) Sly disease MPS 7 Mucopolysaccharidosis VII [Disease/Finding] beta-glucuronidase deficiency mucopolysaccharidosis B glucuronidase deficiency BETA-GLUCURONIDASE DEFICIENCY GUSB Deficiency mucopolysaccharidosis (MPS) VII Sly syndrome Beta-glucuronidase deficiency MPS7 MPS VII - Sly syndrome Mucopolysaccharidosis Type VIIs Type VII, Mucopolysaccharidosis Syndrome, Sly MPS VII Mucopolysaccharidosis, MPS-VII (disorder) MPS VII-Mucopolysaccharid VII Deficiency, GUSB sly disease |
|
| Tree Number |
T9.14.2.25.1.5 T9.8.4.14.3.2.5 T9.8.4.14.15.12.5 T9.11.1.12.3.2.5 T9.11.1.12.15.12.5 |
|
| subClassOf |