|
rdfs:label
|
"Hemimegalenzephalie"@de
"Megalencefalia unilateral"@pt
"Megalencefalia unilateral"@pt-br
"emimegaloencefalia"@it
"hemimegalencefalia"@pl
"hemimegalencephaly"@en
"hémimégalencéphalie"@fr
"تضخم الدماغ الشقي"@ar
"ჰემიმეგალენცეფალია"@ka
"片側巨脳症"@ja
|
|
skos:altLabel
|
"emimegalencefalia"@it
"macrencephaly"@en
"megaloencefalia unilaterale"@it
"mégalencéphalie unilatérale"@fr
"unilateral megalencephaly"@en
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|
schema:description
|
"a rare disorder affecting development of one side of the brain"@en
"condizione congenita rara"@it
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|
schema:dateModified
|
"2026-10-24T00:54:03+00:00"^^xsd:dateTime
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schema:version
|
2560169894
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|
wikibase:identifiers
|
19
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|
21
|
|
wikibase:sitelinks
|
7
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|
wikibase:statements
|
60
|
|
p:P10283
|
wd:statement/Q40103033-5C6CC128-939A-4196-BF9A-52BFD4AA95F9
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|
p:P11143
|
wd:statement/Q40103033-78B35676-8742-4015-8375-3CA2E53EC235
|
|
p:P1325
|
wd:statement/Q40103033-42A9AAE9-29F9-4B08-8E36-ADEF7475D186
|
|
p:P14914
|
wd:statement/Q40103033-2BCADC58-5D7F-4A35-B746-906E3748D4F7
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|
p:P1550
|
wd:statement/Q40103033-3e20fad1-4a7a-6172-53b3-9b14f22e62fe
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|
p:P1692
|
wd:statement/Q40103033-7F29A8AA-DE61-40A3-B58A-496E65F052E2
|
|
p:P1748
|
wd:statement/Q40103033-0db5b168-4e98-e86e-4ca0-094fe5d973e7
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|
p:P1995
|
wd:statement/Q40103033-4B16F0DB-FAE6-46F8-8D2F-FE63D374AC40
|
|
wd:statement/Q40103033-AF230BEB-CF6F-4BBB-BE63-52538C73388A
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|
p:P2293
|
wd:statement/Q40103033-796D100D-75A6-49A6-A912-B1B0C7B7B40B
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|
wd:statement/Q40103033-87043E87-81F6-4378-B6F3-E16315D379A7
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|
wd:statement/Q40103033-94A35DE5-C1B2-4411-AE4F-CE456B24F399
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|
p:P2671
|
wd:statement/Q40103033-25D3210E-2AD3-4171-84D0-49F15F3A727B
|
|
p:P279
|
wd:statement/Q40103033-19FB480D-2958-4841-9B57-507D38BD11B8
|
|
wd:statement/Q40103033-331af791-4b1c-24dc-d7b6-38846c74aabd
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|
wd:statement/Q40103033-40B87F67-55FF-40FF-9B14-59C9AAD1F1DC
|
|
wd:statement/Q40103033-8196D8CD-918F-464A-9237-FAA0B718DD2E
|
|
wd:statement/Q40103033-BBBF5B86-006C-489A-8381-D945AD4F0CB5
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|
wd:statement/Q40103033-e29d72e9-4730-bff5-ea4f-493438224a8e
|
|
wd:statement/Q40103033-ea9534db-43d8-5fc5-160b-1003a6bebd34
|
|
p:P2841
|
wd:statement/Q40103033-86BAD68C-3353-48C0-9A3F-70A79FB15BBF
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|
p:P2888
|
wd:statement/Q40103033-486EC212-7157-442E-8611-A0B361BFECBE
|
|
wd:statement/Q40103033-F3A0089C-B069-4FDC-A160-7DDF2C1325A0
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|
p:P2892
|
wd:statement/Q40103033-d954f9c3-4d15-6eac-19b8-e71568f696b6
|
|
p:P31
|
wd:statement/Q40103033-0FF73931-D7B8-4429-A7A6-B659C0956F76
|
|
wd:statement/Q40103033-795CF6C5-D624-4B34-AB71-9E83BCADD92A
|
|
p:P3201
|
wd:statement/Q40103033-7016D86A-279E-4AB8-9B67-245465829422
|
|
p:P373
|
wd:statement/Q40103033-f5b04199-f2f5-4cf1-b493-f9b422cc7a21
|
|
p:P3841
|
wd:statement/Q40103033-5B81FA2E-EEA0-40B5-A3E9-522CAE4746A5
|
|
p:P4229
|
wd:statement/Q40103033-8D4F4A92-FDD8-4D90-8A22-74FF87C71C79
|
|
p:P4233
|
wd:statement/Q40103033-bb47fb27-4a58-7b08-3b77-ea027156e290
|
|
p:P4317
|
wd:statement/Q40103033-86CB8548-E857-4656-8549-692D76070CB1
|
|
p:P486
|
wd:statement/Q40103033-afafd76f-439a-f617-36a6-efc2b97bbb99
|
|
p:P494
|
wd:statement/Q40103033-95a96141-4374-2de0-5178-f406e877b1f2
|
|
p:P5270
|
wd:statement/Q40103033-04F601FB-DE1A-43F7-BC67-24D52188AB25
|
|
p:P5806
|
wd:statement/Q40103033-10e8d5b8-46f4-56f3-4716-db44d0042460
|
|
p:P6532
|
wd:statement/Q40103033-02F42E4C-68C4-42B2-8A69-21A8F54538EE
|
|
wd:statement/Q40103033-0C0352F1-FB40-488D-9186-E8425A765BC2
|
|
wd:statement/Q40103033-104EF15A-24B9-4DD1-918B-A33FF2841E9E
|
|
wd:statement/Q40103033-1663437D-36E8-4B2B-8EF4-DAD50759880F
|
|
wd:statement/Q40103033-35C11640-7905-427C-B946-B643336806A2
|
|
wd:statement/Q40103033-40EABDF5-AC9D-42A7-B024-3BF83164D875
|
|
wd:statement/Q40103033-460D9A41-A8F6-419B-A736-C5CDC55ED57C
|
|
wd:statement/Q40103033-61734F4E-EE88-453B-A52A-4B1E3422C82D
|
|
wd:statement/Q40103033-68370F7B-14CB-4848-AF4C-94A0D1976745
|
|
wd:statement/Q40103033-73F18893-72BA-4691-88AB-1DA8D7CB3CF5
|
|
wd:statement/Q40103033-982AE3A3-CE73-4675-9B9A-0F18A827EC02
|
|
wd:statement/Q40103033-A2718D71-E76B-4BB9-BF9A-1D12BA3E64CF
|
|
wd:statement/Q40103033-AF835DAC-EF1B-45DF-96AE-894F2F042F65
|
|
wd:statement/Q40103033-D30C6C34-B4ED-488D-85CC-8DAB6243751B
|
|
wd:statement/Q40103033-D8D86363-522D-4591-9C7A-025AC1F697FB
|
|
wd:statement/Q40103033-DEACC83F-8D94-48A5-AE05-8E37744A4C42
|
|
wd:statement/Q40103033-E716F53B-382D-4230-83C2-09F1CDBE5FCA
|
|
wd:statement/Q40103033-EA422C37-26DA-4593-A0B6-22D32010C000
|
|
wd:statement/Q40103033-FBB40D10-10A1-459E-BA95-36588EB30CDE
|
|
p:P665
|
wd:statement/Q40103033-45B4195D-ADDB-4E42-957B-EF453B6F24AB
|
|
p:P672
|
wd:statement/Q40103033-42CFC018-27D7-44C3-83AB-4EDFB7E19E3F
|
|
wd:statement/Q40103033-78717F5A-94AB-4D90-B294-95902A694CC6
|
|
wd:statement/Q40103033-9304068F-FAE7-4771-87A9-10EDD03F1C5E
|
|
wd:statement/Q40103033-EEFD21F9-A087-4CF9-9502-812444719811
|
|
p:direct-normalized/P2671
|
<http://g.co/kg/g/11dfvhqdz1>
|
|
p:direct-normalized/P3201
|
<http://purl.bioontology.org/ontology/MDRFRE/10088459>
|
|
p:direct-normalized/P486
|
<http://id.nlm.nih.gov/mesh/D065705>
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0020492>
|
|
p:direct-normalized/P5806
|
<http://snomed.info/id/253170008>
|
|
p:direct-normalized/P665
|
<http://www.kegg.jp/entry/H01833>
|
|
p:direct-normalized/P672
|
<http://id.nlm.nih.gov/mesh/C05.660.207.536.500>
|
|
<http://id.nlm.nih.gov/mesh/C10.500.507.400.249.500>
|
|
<http://id.nlm.nih.gov/mesh/C16.131.621.207.532.500>
|
|
<http://id.nlm.nih.gov/mesh/C16.131.666.507.400.249.500>
|
|
wdt:P10283
|
"C2910338131"
|
|
wdt:P11143
|
"Hemimegalencephaly"
|
|
wdt:P1325
|
<http://www.nanbyou.or.jp/entry/4783>
|
|
wdt:P14914
|
"D99802"
|
|
wdt:P1550
|
"99802"
|
|
wdt:P1692
|
"742.4"
|
|
wdt:P1748
|
"C177779"
|
|
wdt:P1995
|
rheumatology
|
|
neurology
|
|
wdt:P2293
|
MTOR
|
|
PIK3CA
|
|
AKT3
|
|
wdt:P2671
|
"/g/11dfvhqdz1"
|
|
wdt:P279
|
megalencephaly
|
|
neurodevelopmental disorder
|
|
cerebral malformation with epilepsy
|
|
wdt:P2841
|
infantile onset
|
|
wdt:P2888
|
<http://purl.obolibrary.org/obo/HP_0007206>
|
|
<http://www.orpha.net/ORDO/Orphanet_99802>
|
|
wdt:P2892
|
"C0431391"
|
|
wdt:P31
|
type of disease
|
|
designated intractable/rare disease
|
|
wdt:P3201
|
"10088459"
|
|
wdt:P373
|
"Hemimegalencephaly"
|
|
wdt:P3841
|
"HP:0007206"
|
|
wdt:P4229
|
"Q04.5"
|
|
wdt:P4233
|
"hemimegalencephaly"
|
|
wdt:P4317
|
"2637"
|
|
wdt:P486
|
"D065705"
|
|
wdt:P494
|
"Q04.5"
|
|
wdt:P5270
|
"MONDO_0020492"
|
|
wdt:P5806
|
"253170008"
|
|
wdt:P6532
|
paresis
|
|
myoclonus
|
|
Severe mental retardation
|
|
focal cortical dysplasia
|
|
Hyperintensity of cerebral white matter on MRI
|
|
gliosis
|
|
oculomotor nerve paralysis
|
|
Ventriculomegaly
|
|
Pachygyria
|
|
cranial nerve palsy
|
|
global developmental delay
|
|
atonic seizure
|
|
functional motor deficit
|
|
polymicrogyria
|
|
optic atrophy
|
|
hemimegalencephaly
|
|
choristoma
|
|
seizure
|
|
macrocephaly
|
|
wdt:P665
|
"H01833"
|
|
wdt:P672
|
"C05.660.207.536.500"
|
|
"C10.500.507.400.249.500"
|
|
"C16.131.621.207.532.500"
|
|
"C16.131.666.507.400.249.500"
|