SHMARQL

beta-mannosidosis

<http://www.wikidata.org/entity/Q291617>

lysosomal storage disease that has material basis in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism
rdfs:label
"beta-mannosidosis"@en
skos:altLabel
"Beta-D-mannosidosis"@en
"Beta-D-mannosidosis (disorder)"@en
"Beta-Mannosidosis"@en
"MANNOSIDOSIS, BETA A, LYSOSOMAL"@en
"MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB"@en
"MANSB"@en
"beta-mannosidase deficiency"@en
"lysosomal beta-mannosidase deficiency"@en
schema:description
"lysosomal storage disease that has material basis in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism"@en
schema:dateModified "2026-10-23T23:21:01+00:00"^^xsd:dateTime
schema:version 2560153035
wikibase:identifiers 21
23
wikibase:sitelinks 6
wikibase:statements 52
p:P11143 wd:statement/Q291617-BD8295C1-8FC8-44CB-8B48-9752E69D5765
p:P11430 wd:statement/Q291617-8c5e53f7-4fc1-b0e6-07cd-637d493918c3
p:P14914 wd:statement/Q291617-74A0AE0E-FFDA-4F2B-9AD6-468FBC47E48B
p:P1550 wd:statement/Q291617-35A7D222-1B52-49E3-8B11-C3EC00E989FC
p:P1692 wd:statement/Q291617-3CBA469D-6D92-421A-851F-A4BA2CF47903
p:P1748 wd:statement/Q291617-6B182112-47F8-4F6D-8478-17C207AB61E2
p:P1995 wd:statement/Q291617-C16A292A-4885-43A6-97D7-E3ED7115825E
p:P2293 wd:statement/Q291617-7D9F6156-A638-414F-9D59-92F940FDD22E
p:P279 wd:statement/Q291617-0E33ED5C-EC47-4C7F-978F-D61A084EA355
wd:statement/Q291617-1EBF62BE-FDAD-44AA-A003-76A6B9EF1340
wd:statement/Q291617-57B176D1-8B59-46B5-9F1A-1F81F275D1BB
wd:statement/Q291617-712A7F71-45C5-4BE7-A7D8-DA01F2C91A77
wd:statement/Q291617-74673DC2-5B22-4FF1-97AC-6FD5266802C0
wd:statement/Q291617-925ECC72-6DBD-4313-B067-3E946DF54C94
wd:statement/Q291617-9841bd0e-493c-89f4-04db-f94df06c2ce8
wd:statement/Q291617-D166B264-20C5-475D-A5CB-3A8808BA18D6
wd:statement/Q291617-D5204BEF-478D-42AD-85B1-1208AFC1A0D5
p:P2841 wd:statement/Q291617-2A4DD115-1ADE-48DA-8E18-563EB1D36858
wd:statement/Q291617-3847F31E-5742-4373-A369-6EEFFCF26BEC
wd:statement/Q291617-550EA897-D097-4F2E-A955-648F1B74FB67
wd:statement/Q291617-7401D711-98BC-48FE-B465-EC28579A7C8A
wd:statement/Q291617-E38C67E3-B5EB-4BF5-B02E-F533C600F4CE
p:P2888 wd:statement/Q291617-2DE354AB-A01C-4FCE-9F4B-9E0F6D29B626
wd:statement/Q291617-5EB74B7A-DF29-4D8F-88FB-E77C31D7F463
p:P2892 wd:statement/Q291617-CC2AB8E1-987E-44AA-9FC8-6D114057DF56
wd:statement/Q291617-CD46B3C7-B27D-4DF1-BA23-2E27320F19A8
wd:statement/Q291617-FBF78917-EA25-4B96-864B-3C9464297B6D
p:P31 wd:statement/Q291617-3E141B14-B98D-4E34-BE97-F828544A1A4C
p:P3201 wd:statement/Q291617-E99F2CDD-ABD5-45FA-A98D-C636A053DDF2
p:P4229 wd:statement/Q291617-4FE2FFA2-6B34-44D8-BFD2-86835D1CC866
p:P486 wd:statement/Q291617-E2EC8637-F864-41D6-BAFE-FDA091AC74E6
p:P492 wd:statement/Q291617-C651150F-5A52-4D2E-B2B8-EAD5DA07DC51
p:P494 wd:statement/Q291617-d0439cf1-4d4a-17c0-7668-b988dd1dbc28
p:P5008 wd:statement/Q291617-0E4A886B-0F3D-4147-971F-2A004DBC605D
p:P5270 wd:statement/Q291617-C516877E-383C-405B-AAF9-1598D2E30058
p:P557 wd:statement/Q291617-D492B51E-7A3E-46B0-835E-CACB86669016
p:P6366 wd:statement/Q291617-016D07D3-A615-42F8-9F4B-95843A18D2F3
p:P6532 wd:statement/Q291617-03EDD5C6-9957-4480-9650-FA41C6E4BEF0
wd:statement/Q291617-048E5528-C972-4852-9A42-4DF9DC1CE5ED
wd:statement/Q291617-0F5622DF-AE63-46FA-964D-26A43E88FB2E
wd:statement/Q291617-1B613255-2784-4453-889C-3CD1C4BED905
wd:statement/Q291617-6E59C389-B83F-4728-87E4-89DF1A520179
wd:statement/Q291617-8DA26F83-F10B-4469-BE1C-E5A91EFE3D33
wd:statement/Q291617-A72A305D-C7A7-4B0D-927A-051FC1B881A9
wd:statement/Q291617-D818B7B3-2776-4539-9FFC-CF239E101C85
p:P665 wd:statement/Q291617-FE32192D-F208-49F2-80D0-9B15BE83AB25
p:P672 wd:statement/Q291617-2A1AF6AB-AFF1-467A-9763-578517CC01E7
wd:statement/Q291617-40972A35-2153-4FA4-A07D-B8CBA2A28EB3
wd:statement/Q291617-53080123-721F-4743-BDFA-54FE106FF080
wd:statement/Q291617-58E6235C-7B32-465F-9D5F-058C2E5E1453
p:P699 wd:statement/Q291617-9A2030E3-5458-4516-8A10-CB9147FF8082
p:P7464 wd:statement/Q291617-7C24F9B6-BF3C-450F-A840-5A21C294C4CD
p:direct-normalized/P3201 <http://purl.bioontology.org/ontology/MDRFRE/10049808>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D044905>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0009562>
p:direct-normalized/P6366 <https://makg.org/entity/2780475142>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00140>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C16.320.565.202.607.750>
<http://id.nlm.nih.gov/mesh/C16.320.565.595.577.750>
<http://id.nlm.nih.gov/mesh/C18.452.648.202.607.750>
<http://id.nlm.nih.gov/mesh/C18.452.648.595.577.750>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:3633>
wdt:P11143 "Beta-mannosidosis"
wdt:P11430 "DI-01922"
wdt:P14914 "D00118"
wdt:P1550 "118"
wdt:P1692 "271.8"
wdt:P1748 "C84596"
wdt:P1995 wd:Q1071953
wdt:P2293 wd:Q4897222
wdt:P279 wd:Q55785846
wd:Q55785954
wd:Q55786143
wd:Q55788568
wd:Q55788818
wd:Q6750947
wdt:P2841 wd:Q21953125
wd:Q21955199
wd:Q21955201
wd:Q21955202
wd:Q21955204
wdt:P2888 <http://identifiers.org/doid/DOID:3633>
<http://purl.obolibrary.org/obo/DOID_3633>
wdt:P2892 "C0342849"
"C2931893"
"C4048196"
wdt:P31 wd:Q112193867
wdt:P3201 "10049808"
wdt:P4229 "E77.1"
wdt:P486 "D044905"
wdt:P492 "248510"
wdt:P494 "Q77.1"
wdt:P5008 wd:Q4099686
wdt:P5270 "MONDO_0009562"
wdt:P557 "34529"
wdt:P6366 "2780475142"
wdt:P6532 wd:Q12133
wd:Q141815151
wd:Q141815312
wd:Q1641007
wd:Q18556682
wd:Q29019704
wd:Q3317827
wd:Q6279182
wdt:P665 "H00140"
wdt:P672 "C16.320.565.202.607.750"
"C16.320.565.595.577.750"
"C18.452.648.202.607.750"
"C18.452.648.595.577.750"
wdt:P699 "DOID:3633"
wdt:P7464 "beta-mannosidosis"
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data from SPARQL profile: Wikidata