SHMARQL

lysosomal storage disease

<http://www.wikidata.org/entity/Q675010>

inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function
lysosomal storage disease
rdfs:label
"lysosomal storage disease"@en
skos:altLabel
"Disorder of Lysosomal Enzymes"@en
"LSD"@en
"LSDs"@en
"Lysosomal Storage Disorder"@en
"Lysosomal storage disease"@en
"PHOSPHOLIPIDOSIS"@en
"disorder of lysosomal enzyme"@en
"disorder of lysosomal enzyme (disorder)"@en
"inborn lysosomal enzyme disorder"@en
"lysosomal disease"@en
"lysosomal storage metabolism disorder"@en
schema:description
"inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function"@en
schema:dateModified "2026-10-24T00:30:49+00:00"^^xsd:dateTime
schema:version 2560166457
wikibase:identifiers 27
31
wikibase:sitelinks 22
wikibase:statements 88
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wd:statement/Q675010-CF4C222F-9BC1-4F47-8F3C-CA888C951934
wd:statement/Q675010-CFEE3912-D6DB-4A6E-8384-6201CE8B0C3C
wd:statement/Q675010-DD92F78D-8853-4A0D-B1FA-676E96B5FD1A
wd:statement/Q675010-DF1ECBBB-CA90-4B39-A38E-F534D0F9DDD8
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wd:statement/Q675010-E3D7DE6B-5C8E-4C8C-9D46-C490DFC0C0A0
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wd:statement/Q675010-EDF83340-5B2B-404E-AD3B-B6712EEA50E3
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wd:statement/Q675010-9C82A189-CFB4-4D6C-B484-82CC4A03C725
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p:P5270 wd:statement/Q675010-E5B4FD87-B049-4991-9599-6E7A0A1126AC
p:P6366 wd:statement/Q675010-2499616A-BACE-4D69-AFC8-851A73727E03
wd:statement/Q675010-AA15FFD6-43BA-43D1-8F22-4D584F35D150
p:P646 wd:statement/Q675010-081B49B2-0602-4E4D-8C61-30DE9934A7BC
p:P665 wd:statement/Q675010-1FE18483-D808-4777-AE6D-72C2A9D8DD21
p:P672 wd:statement/Q675010-7015BDBA-B494-44F1-9B9A-E7A0A66E7298
wd:statement/Q675010-AD674259-4C0B-4728-9227-CDA42CF892B5
p:P691 wd:statement/Q675010-C8F5EAE3-5849-47C4-872D-51E88EF946E1
p:P699 wd:statement/Q675010-6B665EF0-41BB-48F0-B22A-F0B6FD64B1B6
p:P7329 wd:statement/Q675010-866DFFF1-F8A4-4D1D-AC6C-6881121952E4
p:P7807 wd:statement/Q675010-fc0c0e80-4ab7-1f4c-53eb-23176a5635ba
p:P8189 wd:statement/Q675010-7C511AD8-DD74-4884-92A5-74CCA758C7CA
p:P910 wd:statement/Q675010-EB341B42-49B1-4276-9110-479EBA513A88
p:P9322 wd:statement/Q675010-DA579C15-4149-4975-A17E-A767FF022A07
p:direct-normalized/P227 <https://d-nb.info/gnd/4392684-8>
p:direct-normalized/P244 <http://id.loc.gov/authorities/names/sh85079196>
p:direct-normalized/P2581 <http://babelnet.org/rdf/s03397023n>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D016464>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0002561>
p:direct-normalized/P6366 <https://makg.org/entity/2778264360>
<https://makg.org/entity/2910067503>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01425>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C16.320.565.595>
<http://id.nlm.nih.gov/mesh/C18.452.648.595>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:3211>
wdt:P10283 "C2778264360"
"C2908579795"
wdt:P11143 "Lysosomal storage disease"
wdt:P1325 <http://www.nanbyou.or.jp/entry/4063>
wdt:P13591 "concept/11ede1f8-70b1-4a96-b34d-6eab923e441e"
wdt:P13735 "3873"
wdt:P1417 "science/lysosomal-disorder"
wdt:P14914 "D68366"
wdt:P1550 "68366"
wdt:P1748 "C61250"
wdt:P18 <http://commons.wikimedia.org/wiki/Special:FilePath/Gaucher%20disease%20-%20very%20high%20mag.jpg>
wdt:P1995 endocrinology
wdt:P227 "4392684-8"
wdt:P2293 GBA
GLA
CTSK
GAA
HEXB
GALC
ARSA
FUCA1
IDS
GALNS
PSAP
MCOLN1
NPC1
GNPTG
IDUA
SCARB2
CTNS
CLN8
GLB1
GM2A
GNS
GRN
GUSB
HEXA
HYAL1
LAMP2
LIPA
MAN2B1
NAGA
NAGLU
NEU1
SMPD1
AP5Z1
NPC2
SLC17A5
CLN6
GNPTAB
HGSNAT
ARSK
KCTD7
SUMF1
SGSH
MANBA
ARSB
wdt:P244 "sh85079196"
wdt:P2581 "03397023n"
wdt:P279 overload disease
wdt:P2888 <http://identifiers.org/doid/DOID:3211>
<http://purl.obolibrary.org/obo/DOID_3211>
<http://www.orpha.net/ORDO/Orphanet_68366>
wdt:P2892 "C0085078"
"C5681329"
wdt:P31 type of disease
designated intractable/rare disease
wdt:P373 "Lysosomal storage diseases"
wdt:P3827 "lysosomal-storage-diseases"
wdt:P486 "D016464"
wdt:P494 "E75"
"E77"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0002561"
wdt:P6366 "2778264360"
"2910067503"
wdt:P646 "/m/02s3kz"
wdt:P665 "H01425"
wdt:P672 "C16.320.565.595"
"C18.452.648.595"
wdt:P691 "ph675382"
wdt:P699 "DOID:3211"
wdt:P7329 "5C56"
wdt:P7807 "656131403"
wdt:P8189 "987007541171005171"
wdt:P910 Category:Lysosomal storage diseases
wdt:P9322 "0362441-lysosomalni-stradava-onemocneni"
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