|
rdfs:label
|
"Doença de Sandhoff"@pt
"Enfermedad de Sandhoff"@es
"Sandhoff disease"@en
"Sandhoff-Krankheit"@de
"Sandhoff-en gaixotasun"@eu
"Sandhoffin tauti"@fi
"Sandhoffova bolest"@bs
"maladie de Sandhoff"@fr
"Сандхофова болест"@sr
"Сандхофф чире"@tt
"синдром Сандхоффа"@ru
"بیماری سندهوف"@fa
"داء ساندهوف"@ar
"サンドホフ病"@ja
|
|
skos:altLabel
|
"Enfermedad de Sandhoff Jatzkewitz"@es
"Enfermedad de Sandhoff-Jatzkewitz"@es
"GM2 gangliosidosis 0 variant"@en
"Gm2-Gangliosidosis, Type 2"@en
"Hexosaminidases a and B Deficiency"@en
"Morbus Sandhoff"@de
"SANDHOFF DISEASE"@en
"Sandhoff"@pt
"Sandhoff Disease, Adult Type"@en
"Sandhoff Disease, Infantile Type"@en
"Sandhoff Disease, Juvenile Type"@en
"Sandhoff Jatzkewitz disease"@en
"Sandhoff disease (disorder)"@en
"болезнь Сандхоффа"@ru
|
|
schema:description
|
"lysosomaalinen kertymäsairaus"@fi
"lysosomal storage disorder from the GM2 gangliosidosis family, characterised by central nervous system degeneration"@en
"лизосомные болезни накопления"@ru
"حالة طبية"@ar
|
|
schema:dateModified
|
"2026-10-24T00:37:05+00:00"^^xsd:dateTime
|
|
schema:version
|
2560167380
|
|
wikibase:identifiers
|
33
|
|
35
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wikibase:sitelinks
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12
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wikibase:statements
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50
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wd:statement/Q917227-5f505e72-4111-328d-4a3f-bad35d1da8ed
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p:direct-normalized/P3201
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<http://purl.bioontology.org/ontology/MDRFRE/10083933>
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p:direct-normalized/P486
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<http://id.nlm.nih.gov/mesh/D012497>
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p:direct-normalized/P5270
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<http://purl.obolibrary.org/obo/MONDO_0010006>
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p:direct-normalized/P6366
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<https://makg.org/entity/2779390119>
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p:direct-normalized/P665
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<http://www.kegg.jp/entry/H02017>
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p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C10.228.140.163.100.435.825.300.300.249>
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|
<http://id.nlm.nih.gov/mesh/C16.320.565.189.435.825.300.300.249>
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|
<http://id.nlm.nih.gov/mesh/C16.320.565.398.641.803.350.300.700>
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|
<http://id.nlm.nih.gov/mesh/C16.320.565.595.554.825.300.300.800>
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|
<http://id.nlm.nih.gov/mesh/C18.452.132.100.435.825.300.300.249>
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|
<http://id.nlm.nih.gov/mesh/C18.452.584.563.641.803.350.300.700>
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<http://id.nlm.nih.gov/mesh/C18.452.648.189.435.825.300.300.249>
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|
<http://id.nlm.nih.gov/mesh/C18.452.648.398.641.803.350.300.700>
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<http://id.nlm.nih.gov/mesh/C18.452.648.595.554.825.300.300.800>
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|
p:direct-normalized/P699
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<http://purl.obolibrary.org/obo/DOID_DOID:3323>
|
|
wdt:P10283
|
"C2779390119"
|
|
wdt:P11143
|
"Sandhoff disease"
|
|
wdt:P11430
|
"DI-00537"
|
|
wdt:P1193
|
0.000005^^xsd:decimal
|
|
wdt:P14914
|
"D00796"
|
|
wdt:P1550
|
"796"
|
|
wdt:P1748
|
"C85052"
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|
wdt:P1995
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wd:Q162606
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wdt:P2293
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wd:Q14905006
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|
wdt:P279
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wd:Q18558225
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wd:Q5513691
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wdt:P2841
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wd:Q21955199
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|
wd:Q21955201
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|
wd:Q21955202
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|
wd:Q21955204
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|
wdt:P2888
|
<http://identifiers.org/doid/DOID:3323>
|
|
<http://purl.obolibrary.org/obo/DOID_3323>
|
|
<http://www.orpha.net/ORDO/Orphanet_796>
|
|
wdt:P2892
|
"C0036161"
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|
"C2713499"
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|
wdt:P31
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wd:Q112193867
|
|
wd:Q929833
|
|
wdt:P3201
|
"10083933"
|
|
wdt:P3827
|
"sandhoff-disease"
|
|
wdt:P4229
|
"E75.01"
|
|
wdt:P4233
|
"sandhoff-disease"
|
|
wdt:P4317
|
"2521"
|
|
wdt:P486
|
"D012497"
|
|
wdt:P492
|
"268800"
|
|
wdt:P493
|
"330.1"
|
|
wdt:P494
|
"E75.0"
|
|
wdt:P5008
|
wd:Q4099686
|
|
wdt:P5270
|
"MONDO_0010006"
|
|
wdt:P557
|
"29469"
|
|
wdt:P6366
|
"2779390119"
|
|
wdt:P646
|
"/m/07ky33"
|
|
wdt:P665
|
"H02017"
|
|
wdt:P668
|
"NBK579484"
|
|
wdt:P672
|
"C10.228.140.163.100.435.825.300.300.249"
|
|
"C16.320.565.189.435.825.300.300.249"
|
|
"C16.320.565.398.641.803.350.300.700"
|
|
"C16.320.565.595.554.825.300.300.800"
|
|
"C18.452.132.100.435.825.300.300.249"
|
|
"C18.452.584.563.641.803.350.300.700"
|
|
"C18.452.648.189.435.825.300.300.249"
|
|
"C18.452.648.398.641.803.350.300.700"
|
|
"C18.452.648.595.554.825.300.300.800"
|
|
wdt:P699
|
"DOID:3323"
|
|
wdt:P7464
|
"sandhoff-disease"
|
|
wdt:P7807
|
"708581915"
|