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rdfs:label
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"Asocjacja PHACE"@pl
"PHACE association"@en
"PHACES综合征"@zh
"Síndrome PHACE"@pt
"Síndrome PHACE"@es
"phace"@fr
"متلازمة فيس"@ar
"ภาวะพบร่วม PHACE"@th
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skos:altLabel
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"Aortic Aneurysm, Giant Congenital"@en
"Asocjacja PHACES"@pl
"PHACE ASSOCIATION"@en
"PHACE Syndrome"@en
"PHACES Syndrome"@en
"Pascual-Castroviejo syndrome type 2"@en
"Phaces Association"@en
"Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft and supraumbilical raphe syndrome"@en
"Syndrome de Pascual-Castroviejo type 2"@fr
"Zespół PHACE"@pl
"متلازمة الفيس"@ar
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schema:description
|
"cutaneous condition characterized by multiple congenital abnormalities. ("PHACES"=Posterior fossa malformations–hemangiomas–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft and supraumbilical raphe syndrome)"@en
"متلازمة تصيب الجلد متمثلة بعدد من التشوهات المختفة في الوجه والرأس والعنق"@ar
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schema:dateModified
|
"2026-10-24T00:18:03+00:00"^^xsd:dateTime
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schema:version
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2560164535
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wikibase:identifiers
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14
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wikibase:sitelinks
|
8
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wikibase:statements
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58
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p:P11143
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wd:statement/Q3377927-C2E4426E-1DBB-4583-8D0D-162783410861
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p:P1193
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wd:statement/Q3377927-AC4FFFF2-D857-46A4-B72B-8298A1B0CA4C
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wd:statement/Q3377927-346F5C99-7DA1-483B-8A92-9779655890BE
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p:P1550
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wd:statement/Q3377927-c5b67362-4de9-a7a6-0eb5-c12c0315cbb8
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p:P1995
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wd:statement/Q3377927-1f37c878-42e0-dd9c-126b-7a30dca1d98d
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p:P2176
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wd:statement/Q3377927-499D56AD-3F5B-49F3-9844-FBBA8A8465B5
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p:P279
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wd:statement/Q3377927-03FC7ABA-850E-459D-85E2-230CB3DE5C0B
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wd:statement/Q3377927-AF4F8E7F-F49C-4412-B6E4-7C1EB5D9932C
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wd:statement/Q3377927-caca51b5-4cf8-165b-23e4-6a7aa1034f04
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p:P2841
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wd:statement/Q3377927-299C3D45-CD7D-45A2-AB56-E5C537FC21D7
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wd:statement/Q3377927-62A8DBD4-9BCD-45E5-8E61-195B058BDF57
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wd:statement/Q3377927-766BEB05-897C-43AB-99C0-A54CEF95DB68
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p:P2888
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wd:statement/Q3377927-E9182762-E1CD-42A5-9E38-0D1F66F816C7
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p:P2892
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wd:statement/Q3377927-0587FDF7-1438-4D2C-ADC2-718C020CCEF4
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wd:statement/Q3377927-6D0FEEFA-01F8-46A5-9B47-7D4E0EA723D0
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wd:statement/Q3377927-D85C4910-FB6A-4879-86F4-3E988D13F3EB
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p:P31
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wd:statement/Q3377927-21AF8245-2C87-4BB2-AFF3-F0AB556CD8AB
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p:P4229
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wd:statement/Q3377927-A96780A1-918B-4B4C-82DD-738CF088179C
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p:P4233
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wd:statement/Q3377927-6f99e7b7-480c-cc63-0188-554a2a5df244
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p:P4317
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wd:statement/Q3377927-81C12D6E-F1D5-43BA-AD93-E3294833F98D
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p:P492
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wd:statement/q3377927-5C198039-D9C4-417F-9B4F-A05FB965D6C9
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p:P5270
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wd:statement/Q3377927-420B9392-99A7-4F9B-81C3-C1292A45E10C
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p:P557
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wd:statement/q3377927-73D92E99-BC9A-47B1-BCBE-F0486E143ED3
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p:P6366
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wd:statement/Q3377927-6B3CF9B9-F962-4699-8F01-1807EBBA41BB
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p:P6532
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wd:statement/Q3377927-1E474FC0-F227-4CCD-BF1A-4AC4E9BA3396
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wd:statement/Q3377927-7CEF067A-E373-41EC-8BAC-4190560372FC
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wd:statement/Q3377927-8304750D-D8FD-4D7F-B7F9-637AE5A1C7BD
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wd:statement/Q3377927-88BDA203-8DC4-4BFE-9ADE-58CF80B9AA15
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wd:statement/Q3377927-A9BEC46C-6524-47AF-8D1F-71593DB684C9
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wd:statement/Q3377927-AF3F8141-4B4B-432E-8F32-530BB36B493B
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wd:statement/Q3377927-C2F9AA0C-180A-4047-9195-6C369187CFAA
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wd:statement/Q3377927-D0A2FC08-9E5B-49D4-B936-7B3FB829D2D4
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wd:statement/Q3377927-D481551C-ADF6-49F6-8D75-C9B3E7081F91
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wd:statement/Q3377927-E3F1E794-5420-49DF-844E-C30EE213DC13
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wd:statement/Q3377927-EC9BAAAB-41ED-4DCC-B81D-755613E2F527
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wd:statement/Q3377927-F2ABD5BF-3809-41A8-8787-A04FE663558D
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p:P7807
|
wd:statement/Q3377927-2349425A-5C1E-4C85-9DCD-1D264A4D4CF9
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p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0011676>
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|
p:direct-normalized/P6366
|
<https://makg.org/entity/2780380139>
|
|
wdt:P11143
|
"PHACE syndrome"
|
|
wdt:P1193
|
0.000001^^xsd:decimal
|
|
wdt:P14914
|
"D42775"
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|
wdt:P1550
|
"42775"
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|
wdt:P1995
|
medical genetics
|
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wdt:P2176
|
propranolol
|
|
wdt:P279
|
central nervous system vascular malformation
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multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
|
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rare syndrome with cardiac malformations
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genetic skin vascular disorder
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rare genetic epilepsy
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syndrome with a cerebellar malformation as major feature
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vascular tumor with associated anomalies
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rare genetic vascular tumor
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Moyamoya syndrome
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palpebral tumor with a vascular malformation
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phakomatosis
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brain cancer
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wdt:P2841
|
congenital onset
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neonatal onset
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infantile onset
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wdt:P2888
|
<http://www.orpha.net/ORDO/Orphanet_42775>
|
|
wdt:P2892
|
"C1847874"
|
|
"C2242617"
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|
"C3698479"
|
|
wdt:P31
|
type of disease
|
|
wdt:P4229
|
"Q28.8"
|
|
wdt:P4233
|
"phace-syndrome"
|
|
wdt:P4317
|
"8338"
|
|
wdt:P492
|
"606519"
|
|
wdt:P5270
|
"MONDO_0011676"
|
|
wdt:P557
|
"34139"
|
|
wdt:P6366
|
"2780380139"
|
|
wdt:P6532
|
tetralogy of Fallot
|
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agenesis of the corpus callosum
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aortic root aneurysm
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|
cataract
|
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Visceral angiomatosis
|
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microphthalmia
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cerebral arteriovenous malformation
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capillary hemangioma
|
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cerebellar hypoplasia
|
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global developmental delay
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microcephaly
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heterochromia
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coloboma of iris
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coarctation of the aorta
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ptosis
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seizure
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optic nerve hypoplasia
|
|
Dandy-Walker syndrome
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sclerocornea
|
|
congenital heart disease
|
|
wdt:P7807
|
"1825849023"
|