|
rdfs:label
|
"Kongenitale Myopathie"@de
"Miopatia congênita"@pt
"Miopatia congênita"@pt-br
"congenital myopathy"@en
"kongenitalna miopatija"@sl
"kongenitální myopatie"@cs
"miopatia conzènita"@vec
"miopatía congénita"@es
"myopathie congénitale"@fr
"Урођене миопатије"@sr
"اعتلال عضلي خلقي"@ar
"先天性ミオパチー"@ja
"先天性肌肉病变"@zh-cn
"先天性肌肉病变"@zh-hans
"先天性肌肉病变"@zh-sg
"先天性肌肉病變"@zh
"先天性肌肉病變"@zh-hant
"先天性肌肉病變"@zh-hk
"先天性肌肉病變"@zh-tw
|
|
skos:altLabel
|
"Congenital myopathy"@en
"miopatia congenita"@es
"prirojena miopatija"@sl
|
|
schema:description
|
"Krankheit"@de
"enfermedad humana"@es
"human disease"@en
"malattia"@it
"svalové onemocnění"@cs
"хвороба людини"@uk
"մարդու հիվանդություն"@hy
"مَرَضٌ بَشَرِيٌّ"@ar
"フロッピーインファント症状を引き起こす疾患群"@ja
|
|
schema:dateModified
|
"2026-10-24T00:47:38+00:00"^^xsd:dateTime
|
|
schema:version
|
2560168917
|
|
wikibase:identifiers
|
21
|
|
wikibase:sitelinks
|
7
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wikibase:statements
|
104
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p:P279
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p:P2888
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p:P2892
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p:P31
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p:P4229
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p:P4317
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p:P492
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p:P493
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wd:statement/q112412-770D138B-371A-468E-8E05-9DA932F20522
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p:P494
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wd:statement/q112412-7C673D5A-80B2-4BC4-A055-C486A2706753
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p:P5008
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p:P5270
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wd:statement/Q112412-A19F1775-322F-43DA-A567-5536315DC01B
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p:P6366
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wd:statement/Q112412-59586032-C47F-4B7D-89DF-28CACF77FAEB
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|
wd:statement/Q112412-78D43E18-33B0-45D5-B7EA-967A791E1F37
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p:P665
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wd:statement/Q112412-45FCC0A3-5024-4DE0-8E5B-6A4532FAD7FE
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p:P673
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wd:statement/q112412-8579AFCA-6BE3-49D3-8A18-37930957B0FC
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|
p:P691
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wd:statement/Q112412-EE28C136-C550-4567-ADFF-2902E6764116
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|
p:P699
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wd:statement/Q112412-847A2F2B-BC16-4FBB-AE4C-6F9F86B54CAB
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p:P7329
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wd:statement/Q112412-0781ed40-67b6-4d5b-afe0-ffc595087e19
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p:P7807
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wd:statement/Q112412-E0C1E1AB-076E-4A06-84AF-F14857D64F08
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p:P9322
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wd:statement/Q112412-5CAA3226-5704-4022-BF72-3FF6044A2BD7
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|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0019952>
|
|
p:direct-normalized/P6366
|
<https://makg.org/entity/2779438767>
|
|
<https://makg.org/entity/2908837689>
|
|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H01810>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0080100>
|
|
wdt:P10283
|
"C2779438767"
|
|
wdt:P11143
|
"Congenital myopathy"
|
|
wdt:P1193
|
0.00005^^xsd:decimal
|
|
wdt:P1325
|
<http://www.nanbyou.or.jp/entry/4726>
|
|
wdt:P14914
|
"D97245"
|
|
wdt:P1550
|
"97245"
|
|
wdt:P1995
|
neurology
|
|
wdt:P2293
|
HADHA
|
|
DES
|
|
TTN
|
|
MYH7
|
|
SDHA
|
|
HADHB
|
|
ACTA1
|
|
AMPD3
|
|
BIN1
|
|
SLC25A4
|
|
CACNA1S
|
|
CFL2
|
|
COX15
|
|
CRYAB
|
|
DNA2
|
|
DNM2
|
|
FLNC
|
|
GFER
|
|
ITGA7
|
|
LIG3
|
|
MTM1
|
|
MTND1
|
|
TRNE
|
|
TRNF
|
|
TRNH
|
|
TRNK
|
|
TRNL2
|
|
TRNS1
|
|
TRNS2
|
|
TRNT
|
|
MYL2
|
|
NDUFS4
|
|
POLG
|
|
RRM1
|
|
RYR1
|
|
SVIL
|
|
TNNT1
|
|
TOP3A
|
|
TPM2
|
|
TPM3
|
|
HACD1
|
|
MYOT
|
|
BAG3
|
|
SCO2
|
|
KLHL41
|
|
LDB3
|
|
POLG2
|
|
HSPB8
|
|
RRM2B
|
|
PNPLA8
|
|
YARS2
|
|
CCDC174
|
|
TRMU
|
|
LMOD3
|
|
TWNK
|
|
JPH1
|
|
SELENON
|
|
PYROXD1
|
|
PUS1
|
|
MYPN
|
|
MYO18B
|
|
CCDC78
|
|
KLHL40
|
|
UNC45B
|
|
KY
|
|
COA6
|
|
KBTBD13
|
|
MAP3K20
|
|
NEB
|
|
TRNL1
|
|
ND5
|
|
TYMP
|
|
wdt:P279
|
muscular disease
|
|
congenital disorder
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0080100>
|
|
<http://purl.obolibrary.org/obo/DOID_0080100>
|
|
<http://www.orpha.net/ORDO/Orphanet_97245>
|
|
wdt:P2892
|
"C0027127"
|
|
"C0270960"
|
|
wdt:P31
|
type of disease
|
|
designated intractable/rare disease
|
|
wdt:P4229
|
"G71.2"
|
|
wdt:P4317
|
"5898"
|
|
wdt:P492
|
"255300"
|
|
wdt:P493
|
"359.0"
|
|
wdt:P494
|
"G71.2"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0019952"
|
|
wdt:P6366
|
"2779438767"
|
|
"2908837689"
|
|
wdt:P665
|
"H01810"
|
|
wdt:P673
|
"1175852"
|
|
wdt:P691
|
"ph255244"
|
|
wdt:P699
|
"DOID:0080100"
|
|
wdt:P7329
|
"8C72"
|
|
wdt:P7807
|
"1185572073"
|
|
wdt:P9322
|
"0211523-vrozene-myopatie"
|