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MPS VII - Sly syndrome
MPS VII - Sly syndrome
Item
http://www.wikidata.org/entity/Q45316412
Q45316412
about
Defective GUSB does not hydrolyse (HA)2
Defective GUSB does not hydrolyse GlcA-β1;3-GlcNAc
Defective GUSB does not hydrolyse CS/HS precursor
P361
Mucopolysaccharidoses
P527
Q50289078-50512ED0-FD63-4A18-842B-F28CCAEA4F2F
Q55214593-E5A1DA1A-3863-44D9-8F2A-B16F6A740644
Q55214594-DBDA91F4-B2B8-4641-BC71-C25ADA4E8B42
P361
Q45316401-D0C9951B-B793-4D66-9E6E-8A6750E95848
P527
MPS VII - Sly syndrome
Item
http://www.wikidata.org/entity/Q45316412
description
An instance of the biological pathway MPS VII - Sly syndrome in Homo sapiens
@en
name
MPS VII - Sly syndrome
@en
type
Item
label
MPS VII - Sly syndrome
@en
prefLabel
MPS VII - Sly syndrome
@en
P2860
Q45316412-0D737051-E36E-4E8D-89D1-E0F2AD040C02
Q45316412-4471F542-2BDC-43F7-9E8A-B553236905A6
Q45316412-71F0EC89-2473-449B-8347-AA6934C8DF9F
Q45316412-87D56A88-B046-4D2A-BA8F-4559F0B552B8
Q45316412-93326CB7-665F-4EDF-BC52-9EBE10368C60
Q45316412-C46BFBF8-E0B7-4B30-8987-25F217AFE49E
Q45316412-D372ACA4-1FF5-497B-AED8-4A01697E491A
P2888
Q45316412-2DE8EC37-9DE4-4080-A5E3-8AAF9C87D41D
P31
Q45316412-37E65F8F-6882-430B-95F7-EE7CB05940D3
P361
Q45316412-7E52CB46-DE7D-482B-AE30-19F3503163A2
P3937
Q45316412-A73E74F1-2195-4417-8ECA-FF30EBA395C0
P527
Q45316412-1A5041C9-F6D1-4FAB-8C09-B57C9E064522
Q45316412-7DF10150-B097-4D24-9785-D563962162B6
Q45316412-C6BA9D61-85B1-4B41-ADE5-820B046B01A6
P703
Q45316412-B6FB83C7-DA7C-4E28-906E-96ACD53B6D23
P2860
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis.
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
Cloning and characterization of the human beta-glucuronidase gene.
Localization by fluorescence in situ hybridization of the human functional beta-glucuronidase gene (GUSB) to 7q11.21 --> q11.22 and two pseudogenes to 5p13 and 5q13.
P2888
reactome:R-HSA-2206292
P31
biological pathway
P361
Mucopolysaccharidoses
P3937
R-HSA-2206292
http://www.w3.org/2001/XMLSchema#string
P527
Defective GUSB does not hydrolyse (HA)2
Defective GUSB does not hydrolyse GlcA-β1;3-GlcNAc
Defective GUSB does not hydrolyse CS/HS precursor
P703
Homo sapiens