SHMARQL

Gaucher's disease

<http://www.wikidata.org/entity/Q861645>

human disease characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body
Gaucher's disease
rdfs:label
"Gaucher's disease"@en
skos:altLabel
"Gaucher disease"@en
"Glucocerebrosidase deficiency"@en
"acid beta-glucosidase deficiency"@en
"glocucerebrosidase deficiency"@en
"glucosylceramide beta-glucosidase deficiency"@en
"kerasin thesaurismosis"@en
"lipoid histiocytosis"@en
"lipoid histiocytosis (kerasin type)"@en
schema:description
"human disease characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body"@en
schema:dateModified "2026-10-24T00:11:07+00:00"^^xsd:dateTime
schema:version 2560163266
wikibase:identifiers 39
41
wikibase:sitelinks 34
wikibase:statements 67
p:P10283 wd:statement/Q861645-DF956522-9FB8-414C-BAA5-2902A5EDD407
p:P11143 wd:statement/Q861645-3615D27A-8AA1-45BE-8C32-AC785053D693
p:P11430 wd:statement/Q861645-dc978ec7-41f9-b303-8adb-2221a4004ebf
p:P1193 wd:statement/Q861645-6ebb6417-44e8-f141-ca72-dbf4d1354dfa
p:P1343 wd:statement/Q861645-f80bb193-495f-541b-fb02-86d463b30575
p:P13591 wd:statement/Q861645-1189E776-83B6-42A0-8130-109B402284CB
p:P138 wd:statement/Q861645-03f91adb-4550-d0e4-16ad-6822e2e203b8
p:P1417 wd:statement/Q861645-8DFD5684-80F6-4465-95E8-0B5A29C63C6A
p:P1461 wd:statement/Q861645-4FDAF3E6-2E10-45DE-A9DA-84D27179F625
p:P14914 wd:statement/Q861645-6047A8E8-F19D-4D43-AEAE-31BF21262183
p:P1550 wd:statement/Q861645-97C8C83F-D9F7-4767-8519-135825BF3E04
p:P1748 wd:statement/Q861645-FE44872A-2FFF-4523-8C81-420C33E936BA
p:P18 wd:statement/Q861645-D69FD27C-79D2-4408-A0A0-F4D2E89C9108
p:P1995 wd:statement/Q861645-39818DE3-07B0-4296-BBE0-5D2C9A96CD12
wd:statement/Q861645-e40e3ec2-4b58-fb71-0246-7df29b482a92
p:P2176 wd:statement/Q861645-2331DB13-989C-49F2-BD18-2E7FCCB03EBA
wd:statement/Q861645-560DD4DF-EBE9-4032-AC2B-E20538DAF51F
wd:statement/Q861645-60069F2E-E146-4B8E-B047-AF72189B3AC8
wd:statement/Q861645-B3013A89-8499-4D04-BEE1-4C1547FA344D
wd:statement/Q861645-C1C718F2-EC3F-46C1-8A16-87D5E6D6EF59
p:P2293 wd:statement/Q861645-3B001321-EA8C-4EF7-A234-FA4C6D364A75
wd:statement/Q861645-78B737B4-B4B8-47B8-99C6-1D47E0C4FEEC
wd:statement/Q861645-960724D3-ECF7-4176-B620-DE2FD88231D5
wd:statement/Q861645-EAB82E93-0493-4651-8EF4-6E61408B647F
p:P244 wd:statement/Q861645-473CAF2A-A19F-4801-ACED-3B3BF845F6C4
p:P279 wd:statement/Q861645-9C25271E-8781-495B-9DC0-4CAC4D2ED65F
p:P2841 wd:statement/Q861645-5268A827-8491-43C0-93D3-723D397D30EC
p:P2888 wd:statement/Q861645-5CDB07E4-98C1-4DED-9306-07A422126F5B
wd:statement/Q861645-8FEF1262-BFEF-4E12-805D-85C64A307025
wd:statement/Q861645-F2AE82B0-D459-4489-8B5C-7632BEAB5E55
p:P2892 wd:statement/Q861645-5638A17F-14C5-4E34-B9D7-BAFCF664B9B6
p:P31 wd:statement/Q861645-4A7BC17F-2BB3-4B42-9B93-B7C8BB91BF46
wd:statement/Q861645-89F693CE-9DD9-435D-887F-EE99493979A7
p:P3219 wd:statement/Q861645-C1D19D89-996C-4E4C-A090-8B3846BDC076
p:P3471 wd:statement/Q861645-F18AC424-D7BA-4F85-A0BD-F911323BEF2B
p:P349 wd:statement/Q861645-8D74239B-9DC2-496D-AF5C-ECD065016485
p:P373 wd:statement/Q861645-66394c46-4250-ca82-c2fd-69c14e8eb081
p:P4229 wd:statement/Q861645-5FBF693A-D2B4-4C37-8147-1145908D8E71
wd:statement/Q861645-7BF172E1-8902-4F13-B513-740C56B98DF7
p:P4233 wd:statement/Q861645-a60a3eca-410a-12e6-e7ab-710b7c3acb43
p:P4317 wd:statement/Q861645-F8B73507-53B5-4429-85B1-C952EF6E34C9
p:P486 wd:statement/Q861645-9D37BBFB-26A0-4AD8-AB55-20AE6E5A3051
p:P492 wd:statement/Q861645-7C2D614A-5A2A-4F20-999D-C722C6A3D063
p:P5008 wd:statement/Q861645-A1E6FF71-EBC2-412B-A3EF-45152AC69A0A
p:P5270 wd:statement/Q861645-4808198B-3474-41F1-B7F1-8876C75CA09D
p:P557 wd:statement/q861645-3E813B60-EF10-43FB-8766-57DBF2DDE919
p:P604 wd:statement/q861645-B73A38C1-4E1D-4D71-8B7C-8E1B3B15AF5E
p:P646 wd:statement/Q861645-CA3BD377-41FC-4435-8CB7-B18984EA8A94
p:P6532 wd:statement/Q861645-0B99944B-4666-4D18-BB95-9CECC58256FF
p:P665 wd:statement/Q861645-6B703A7F-C556-4547-B70B-1CA99C784A86
p:P668 wd:statement/q861645-E25AF053-B8A3-40D8-9FDE-6053BBEFA4D1
p:P672 wd:statement/Q861645-085B4B8A-EA4C-4CF9-B04E-82F3D6C733F9
wd:statement/Q861645-3C27DAA0-93EA-45D8-8551-95C103A88D36
wd:statement/Q861645-6268B7DB-5E25-46B9-996F-DEF5FA093715
wd:statement/Q861645-8D200D9D-9873-4F73-8CF8-37119C279B2A
wd:statement/Q861645-9671AA64-EC48-4C07-8B05-5F662A201D82
wd:statement/Q861645-A4861D38-78DF-46B4-AF0F-32FF732698AE
wd:statement/Q861645-AF84C802-1ACA-4711-BA37-DB4D6C84227D
wd:statement/Q861645-C44C77FE-7D0C-4F57-AE6C-6A916A14C2D2
wd:statement/Q861645-EC7D4BAF-A9C4-4E05-AD14-DE28C458E500
p:P673 wd:statement/q861645-9E3DD45A-2956-4FD3-9F1C-DBB3CCAA9928
p:P699 wd:statement/Q861645-3E2F6D8B-B537-4DE2-AAEF-A0BF49BF0144
p:P7464 wd:statement/Q861645-36F4FAAA-D05F-4B8E-905F-6D03C6C9D315
p:P7807 wd:statement/Q861645-FEE8A51B-D4C0-41D9-BD6D-6FEFFC0FA55E
p:P8189 wd:statement/Q861645-E7970966-DE98-40B5-BF30-20C19760151B
p:P9272 wd:statement/Q861645-02AD6FFD-35B7-4BBD-B2A5-ADC9B0171CF5
p:P989 wd:statement/Q861645-F15474D5-07E1-4C85-A190-D6BA34C73422
p:direct-normalized/P244 <http://id.loc.gov/authorities/names/sh85053526>
p:direct-normalized/P349 <http://id.ndl.go.jp/auth/ndlna/00576302>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D005776>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0018150>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00126>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C10.228.140.163.100.435.825.400>
<http://id.nlm.nih.gov/mesh/C16.320.565.189.435.825.400>
<http://id.nlm.nih.gov/mesh/C16.320.565.398.641.803.441>
<http://id.nlm.nih.gov/mesh/C16.320.565.595.554.825.400>
<http://id.nlm.nih.gov/mesh/C18.452.132.100.435.825.400>
<http://id.nlm.nih.gov/mesh/C18.452.584.563.641.803.441>
<http://id.nlm.nih.gov/mesh/C18.452.648.189.435.825.400>
<http://id.nlm.nih.gov/mesh/C18.452.648.398.641.803.441>
<http://id.nlm.nih.gov/mesh/C18.452.648.595.554.825.400>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:1926>
wdt:P10283 "C2776723260"
wdt:P11143 "Gaucher's disease"
wdt:P11430 "DI-03092"
wdt:P1193 0.00001225^^xsd:decimal
wdt:P1343 The Unified Medical Dictionary (Librairie du Liban, 2009)
wdt:P13591 "concept/d1798d6d-26e2-49d1-b323-ff845bf41acd"
wdt:P138 Philippe Gaucher
wdt:P1417 "science/Gaucher-disease"
wdt:P1461 "gauchers-disease-pro"
wdt:P14914 "D00355"
wdt:P1550 "355"
wdt:P1748 "C61268"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Acid%20beta%20glucosidase.png>
wdt:P1995 endocrinology
neurology
wdt:P2176 eliglustat
imiglucerase
velaglucerase alfa
cycloserine
miglustat
wdt:P2293 GBA
NTRK3
PSAP
SCARB2
wdt:P244 "sh85053526"
wdt:P279 sphingolipidosis
wdt:P2841 any age
wdt:P2888 <http://identifiers.org/doid/DOID:1926>
<http://purl.obolibrary.org/obo/DOID_1926>
<http://www.orpha.net/ORDO/Orphanet_355>
wdt:P2892 "C0017205"
wdt:P31 type of disease
rare disease
wdt:P3219 "maladie-de-gaucher"
wdt:P3471 "49897"
wdt:P349 "00576302"
wdt:P373 "Gaucher's disease"
wdt:P4229 "E75.2"
"E75.22"
wdt:P4233 "gaucher-s-disease"
wdt:P4317 "8233"
wdt:P486 "D005776"
wdt:P492 "230800"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0018150"
wdt:P557 "5124"
wdt:P604 "000564"
wdt:P646 "/m/02qj4j"
wdt:P6532 Growth delay
wdt:P665 "H00126"
wdt:P668 "NBK1269"
wdt:P672 "C10.228.140.163.100.435.825.400"
"C16.320.565.189.435.825.400"
"C16.320.565.398.641.803.441"
"C16.320.565.595.554.825.400"
"C18.452.132.100.435.825.400"
"C18.452.584.563.641.803.441"
"C18.452.648.189.435.825.400"
"C18.452.648.398.641.803.441"
"C18.452.648.595.554.825.400"
wdt:P673 "944157"
wdt:P699 "DOID:1926"
wdt:P7464 "gaucher-disease"
wdt:P7807 "1923566939"
wdt:P8189 "987012431025105171"
wdt:P9272 "5916"
wdt:P989 <http://commons.wikimedia.org/wiki/Special:FilePath/WP%20reading%20Gauchers%20disease.ogg>
Download as:
TurtleJSON-LDRDF/XML
data from SPARQL profile: Wikidata