|
rdfs:label
|
"Austinova bolezen"@sl
"Deficiència múltiple de sulfatases"@ca
"Deficiência múltipla de sulfatase"@pt
"Deficiência múltipla de sulfatase"@pt-br
"Multipler Sulfatase-Mangel"@de
"maladie d'Austin"@fr
"malattia di Austin"@it
"małatia de austin"@vec
"mucosulfatidosis"@en
"multippeli sulfataasin puutos"@fi
"Вишеструки недостатак сулфатазе"@sr
"Множественная сульфатазная недостаточность"@ru
"عوز السلفاتاز المتعدد"@ar
"کمبود مالتیپل سولفاتاز"@fa
|
|
skos:altLabel
|
"Austin disease"@en
"DMS"@fr
"Juvenile sulfatidosis, Austin type"@en
"MSD"@en
"MSD"@fr
"MSD"@fi
"MULTIPLE SULFATASE DEFICIENCY"@en
"MULTIPLE SULFATASE DEFICIENCY; MSD"@en
"Mucosulfatidosis"@en
"Sulfatidosis, Juvenile, Austin Type"@en
"déficit multiple en sulfatases"@fr
"mucosulfatidose"@fr
"mukosulfatidoza"@sl
"multiple sulfatase deficiency disease"@en
"sulfatidose juvénile type Austin"@fr
"Болезнь Остина"@ru
|
|
schema:description
|
"Krankheit"@de
"lysosomaalisiin kertymäsairauksiin kuuluva aineenvaihduntasairaus"@fi
"lysosomal storage disease"@en
"maladie lysosomale extrêmement rare"@fr
"rara malattia genetica dovuta ad un deficit multiplo di solfatasi"@it
"redka genetska bolezen lizosomskega skladiščenja"@sl
"Лизосомные болезни накопления"@ru
"хвороба"@uk
|
|
schema:dateModified
|
"2026-10-24T00:27:15+00:00"^^xsd:dateTime
|
|
schema:version
|
2560165945
|
|
wikibase:identifiers
|
24
|
|
26
|
|
wikibase:sitelinks
|
10
|
|
wikibase:statements
|
76
|
|
p:P11143
|
wd:statement/Q3281227-A2223070-B709-407B-8A3B-B6A25DE13D44
|
|
p:P11430
|
wd:statement/Q3281227-3b0aff5d-4a06-1398-10cb-cef64ea08c4b
|
|
p:P1193
|
wd:statement/Q3281227-D0D0374B-5E8F-44BE-AD60-EC9C650FC40F
|
|
p:P14914
|
wd:statement/Q3281227-E475F16F-0F14-427D-9142-5441E2C8F5CF
|
|
p:P1550
|
wd:statement/Q3281227-F98FD3D7-C205-4134-89E9-308EFE685778
|
|
p:P1748
|
wd:statement/Q3281227-7320D2BB-E0C6-46FF-A505-30324083BE58
|
|
p:P1813
|
wd:statement/Q3281227-042bc79b-4f53-021c-29ed-041ad830002b
|
|
p:P1995
|
wd:statement/Q3281227-5DBD995B-57F3-42AD-AC5B-1E22AA6F7F81
|
|
p:P2293
|
wd:statement/Q3281227-13BADDB0-DB96-46D5-B7DE-D2F464882A8A
|
|
wd:statement/Q3281227-B51CD0CE-B058-4861-ACEE-ABFFCAF83486
|
|
wd:statement/Q3281227-F03A555D-19F4-4827-B9E9-66948D59E3A8
|
|
p:P279
|
wd:statement/Q3281227-06973BA9-3CC9-4631-A406-F87B2D5A5DFE
|
|
wd:statement/Q3281227-06FF08B8-9136-4623-BD32-F4DF8CA993AF
|
|
wd:statement/Q3281227-2F58AEA4-CEE3-4CC3-BD43-49C286C54754
|
|
wd:statement/Q3281227-35731572-B0AF-4CB9-B75C-84255C5BE1CF
|
|
wd:statement/Q3281227-3ECD51F6-6CAC-45A9-ACF4-3CBF4B2341FF
|
|
wd:statement/Q3281227-4730F2E3-A6B2-471D-90F6-E8929539CB4B
|
|
wd:statement/Q3281227-4e8d2eb9-4a41-c101-817e-ad947086b497
|
|
wd:statement/Q3281227-53937808-1535-422A-8FD7-BFA420021B9D
|
|
wd:statement/Q3281227-69B80BCE-01ED-4FBF-8EDA-3AE2653203F9
|
|
wd:statement/Q3281227-86A2E01D-A8B1-44B1-9174-003AA4611F89
|
|
wd:statement/Q3281227-8C4CCCC5-574D-4F1E-84BC-CBE93938CBBE
|
|
wd:statement/Q3281227-A3AE124E-5D25-44A5-8263-EA3DF1FFF978
|
|
wd:statement/Q3281227-E22BC06C-79DD-4CA7-B3C5-5651F38A735E
|
|
p:P2841
|
wd:statement/Q3281227-28722443-2639-402F-AA23-426873CA1CA8
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|
wd:statement/Q3281227-2AC372E8-10D3-428D-8C9E-5C91205E8A4D
|
|
wd:statement/Q3281227-4BB356E3-D576-400A-BE34-9CCE3903DD8A
|
|
wd:statement/Q3281227-6741BC8C-9F03-4551-B7F3-E722C5DE0D3B
|
|
wd:statement/Q3281227-CF5B5A90-8B7D-46A9-8D49-2C9056DB7953
|
|
p:P2888
|
wd:statement/Q3281227-B2ABFBD8-4B71-4556-95F5-4A53FB12C4E3
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|
wd:statement/Q3281227-BC8A50DC-FCFB-4123-8EF9-8B8F49E8DA64
|
|
wd:statement/Q3281227-C3BBC2DC-FECC-47BB-BD2F-31FFD0B8D6DB
|
|
p:P2892
|
wd:statement/Q3281227-C3261B4B-D9EF-4478-ABE4-D970C5A00B20
|
|
wd:statement/Q3281227-F683570B-316F-4E0D-9ECF-7206B9346357
|
|
p:P31
|
wd:statement/Q3281227-481E43A0-07BB-4B43-855C-7342988682AC
|
|
wd:statement/Q3281227-A9473068-2F5C-4CC0-81AF-4DF19735C49B
|
|
p:P4229
|
wd:statement/Q3281227-4E38BC5B-A71E-46DB-BE49-4FEE4829266B
|
|
p:P4317
|
wd:statement/Q3281227-DEE95312-0705-4D6D-99D6-F1AB26FC5F94
|
|
p:P486
|
wd:statement/Q3281227-5C694DD1-64BA-4E95-8BD1-48CEA65EF0F0
|
|
p:P492
|
wd:statement/Q3281227-B98722DD-31D0-46FC-9CC6-C15B8DE4BA2E
|
|
p:P5008
|
wd:statement/Q3281227-9ED00ED3-7FB6-485B-A77C-012B033E6280
|
|
p:P5270
|
wd:statement/Q3281227-8CC54E71-E323-4B64-9561-2BDD21F18F0F
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|
p:P6366
|
wd:statement/Q3281227-C407BB89-F52B-41B3-A922-5DA99F7291F8
|
|
p:P6532
|
wd:statement/Q3281227-025E2CB6-59EF-495F-9DBD-939EFF9C557E
|
|
wd:statement/Q3281227-05141A2E-0275-43B7-9A64-F98EA1942FFF
|
|
wd:statement/Q3281227-0F72134E-C33F-4115-913A-F366B4A9FB53
|
|
wd:statement/Q3281227-1A5CF8C5-CDE8-4C5A-921B-55025B465C04
|
|
wd:statement/Q3281227-2C91B7F9-34CE-4182-B966-CA3802A0D959
|
|
wd:statement/Q3281227-60F08845-F329-43E3-BC62-D49F83AA92F9
|
|
wd:statement/Q3281227-6DB766AF-AA5D-4604-9C27-C6855C719B26
|
|
wd:statement/Q3281227-70EBD6A8-7A64-46D3-A6BC-A2A3B4BF18B2
|
|
wd:statement/Q3281227-71247115-09E5-4BE5-A362-342D124E2E2A
|
|
wd:statement/Q3281227-8CA6BDEA-82E7-423E-B649-EC06ECF42DA1
|
|
wd:statement/Q3281227-97761673-3F33-4DAC-93E4-443CFB798105
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|
wd:statement/Q3281227-A466B8A3-6B78-400A-9598-29FA1DA450BA
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|
wd:statement/Q3281227-B64034C4-F753-4106-8B85-8E090DF99CC6
|
|
wd:statement/Q3281227-C7EC2361-18AD-4BAC-AA6A-597FD1B11EEE
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|
wd:statement/Q3281227-DAE1D41B-57EE-4D27-9FD2-9D17E5DF1B36
|
|
wd:statement/Q3281227-E5D0988E-E9A4-440B-A7CB-A676A0AD6B69
|
|
wd:statement/Q3281227-E61742C1-AA7D-4149-ADA0-FDC5624C220A
|
|
wd:statement/Q3281227-EF4BD4E1-8F9A-4C8F-A68B-28EF94874BE8
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|
wd:statement/Q3281227-F7702511-3E00-47F6-AF64-4F2DCB85BA1D
|
|
wd:statement/Q3281227-FEE8A6B8-F342-43AB-99D0-BBE98FBD2CD7
|
|
p:P665
|
wd:statement/Q3281227-1CB24F69-FCCD-4CAA-9C5E-5A88059FFC38
|
|
p:P672
|
wd:statement/Q3281227-07107C7E-125B-4178-BDFA-B82FCDB2AE23
|
|
wd:statement/Q3281227-14FC2E60-5C03-437A-A429-4C2DA61C59F1
|
|
wd:statement/Q3281227-620366DA-FF53-4200-BB64-A0895642EFD3
|
|
wd:statement/Q3281227-6FC6E6CD-FB5E-40EA-8EFF-B7238A6829CC
|
|
wd:statement/Q3281227-84442322-1FC4-41C0-B2D7-D2AA1969F845
|
|
wd:statement/Q3281227-88775A4B-7AA3-4A1D-809A-EEB7310075B5
|
|
wd:statement/Q3281227-942F8852-0789-43BB-8473-EC73DDD23402
|
|
wd:statement/Q3281227-9FD604D1-C0D0-4578-B640-73D8A2435244
|
|
wd:statement/Q3281227-B4CB55B2-C7C8-4D4B-A296-36A573EB32EB
|
|
p:P699
|
wd:statement/Q3281227-18B4F093-E66A-436A-9889-200B716F8613
|
|
p:P7464
|
wd:statement/Q3281227-50161B1C-8F62-4B94-9BC4-F573A6741FC9
|
|
p:P7807
|
wd:statement/Q3281227-5A93663A-B26A-4B8C-8B30-EFF752238941
|
|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/D052517>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0010088>
|
|
p:direct-normalized/P6366
|
<https://makg.org/entity/2781446643>
|
|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H00272>
|
|
p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C10.228.140.163.100.435.825.850.750>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.189.435.825.850.750>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.398.641.803.925.750>
|
|
<http://id.nlm.nih.gov/mesh/C16.320.565.595.554.825.850.750>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.132.100.435.825.850.750>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.584.563.641.803.925.750>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.189.435.825.850.750>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.398.641.803.925.750>
|
|
<http://id.nlm.nih.gov/mesh/C18.452.648.595.554.825.850.750>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0050441>
|
|
wdt:P11143
|
"Multiple sulfatase deficiency"
|
|
wdt:P11430
|
"DI-00791"
|
|
wdt:P1193
|
0.000005^^xsd:decimal
|
|
wdt:P14914
|
"D00585"
|
|
wdt:P1550
|
"585"
|
|
wdt:P1748
|
"C84908"
|
|
wdt:P1813
|
"MSD"@en
|
|
wdt:P1995
|
endocrinology
|
|
wdt:P2293
|
ARSA
|
|
SUMF1
|
|
ARSB
|
|
wdt:P279
|
autosomal recessive disease
|
|
neurometabolic disease
|
|
rare dyslipidemia
|
|
developmental anomaly of metabolic origin
|
|
rare genetic epilepsy
|
|
rare genetic developmental defect during embryogenesis
|
|
autosomal ichthyosis syndrome with fatal disease course
|
|
sphingolipidosis with epilepsy
|
|
lysosomal storage disease with skeletal involvement
|
|
sulfatidosis
|
|
wdt:P2841
|
congenital onset
|
|
neonatal onset
|
|
infantile onset
|
|
childhood onset
|
|
juvenile onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0050441>
|
|
<http://purl.obolibrary.org/obo/DOID_0050441>
|
|
<http://www.orpha.net/ORDO/Orphanet_585>
|
|
wdt:P2892
|
"C0268263"
|
|
"C1720864"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P4229
|
"E75.2"
|
|
wdt:P4317
|
"5061"
|
|
wdt:P486
|
"D052517"
|
|
wdt:P492
|
"272200"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0010088"
|
|
wdt:P6366
|
"2781446643"
|
|
wdt:P6532
|
splenomegaly
|
|
cataract
|
|
hepatomegaly
|
|
Thick eyebrow
|
|
developmental regression
|
|
hydrocephalus
|
|
corneal opacity
|
|
global developmental delay
|
|
anteverted nares
|
|
disability affecting intellectual abilities
|
|
optic atrophy
|
|
microcephaly
|
|
coarse facial features
|
|
ichthyosis
|
|
joint stiffness
|
|
seizure
|
|
macrocephaly
|
|
visual impairment
|
|
short stature
|
|
sensorineural hearing loss
|
|
wdt:P665
|
"H00272"
|
|
wdt:P672
|
"C10.228.140.163.100.435.825.850.750"
|
|
"C16.320.565.189.435.825.850.750"
|
|
"C16.320.565.398.641.803.925.750"
|
|
"C16.320.565.595.554.825.850.750"
|
|
"C18.452.132.100.435.825.850.750"
|
|
"C18.452.584.563.641.803.925.750"
|
|
"C18.452.648.189.435.825.850.750"
|
|
"C18.452.648.398.641.803.925.750"
|
|
"C18.452.648.595.554.825.850.750"
|
|
wdt:P699
|
"DOID:0050441"
|
|
wdt:P7464
|
"multiple-sulfatase-deficiency"
|
|
wdt:P7807
|
"848083807"
|