|
rdfs:label
|
"Síndrome de macrocefalia-perturbação do desenvolvimento intelectual-não compactação ventricular esquerda"@pt
"Síndrome de macrocefalia-perturbação do desenvolvimento intelectual-não compactação ventricular esquerda"@pt-br
"syndromic X-linked intellectual disability 34"@en
|
|
skos:altLabel
|
"MRXS34"@en
|
|
"MRXSML"@en
|
|
"Mental Retardation, X-Linked, Syndromic type 34"@en
|
|
"macrocephaly-intellectual disability-left ventricular non compaction syndrome"@en
|
|
"mental retardation, X-linked, syndromic 34"@en
|
|
"syndromic X-linked intellectual disability type 34"@en
|
|
"syndromic X-linked mental retardation Mircsof-Langouet type"@en
|
|
schema:description
|
"Human disease"@en
"Krankheit"@de
"хвороба людини"@uk
"مرض يصيب الإنسان"@ar
|
|
schema:dateModified
|
"2026-10-24T00:22:01+00:00"^^xsd:dateTime
|
|
schema:version
|
2560165143
|
|
wikibase:identifiers
|
8
|
|
wikibase:sitelinks
|
0
|
|
wikibase:statements
|
31
|
|
p:P11430
|
wd:statement/Q28065621-53bc38a5-4a44-fc62-3d1a-6818d53ef10c
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|
p:P1193
|
wd:statement/Q28065621-8CC18596-0C49-4CF4-850E-BCC55D896D85
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|
p:P14914
|
wd:statement/Q28065621-648B5ADC-4F12-4B56-8401-4174E270410A
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|
p:P1550
|
wd:statement/Q28065621-5A456293-C3F1-42B6-AB26-B1109AA634BF
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|
p:P2293
|
wd:statement/Q28065621-B31CBD21-CB48-4282-AAF9-E85BB7802F37
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|
p:P279
|
wd:statement/Q28065621-A839576D-58C4-48C9-BA3A-FCDD1D340549
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|
wd:statement/Q28065621-AEFEBBC5-D146-41BE-98E0-E4314288BCB6
|
|
wd:statement/Q28065621-D2768EC0-4A76-4F71-927B-CAE579878F65
|
|
p:P2841
|
wd:statement/Q28065621-ADD55996-F567-4925-AF00-060C5CC22A5B
|
|
p:P2888
|
wd:statement/Q28065621-BF49FD38-3725-4BEF-830B-88E15B6D6967
|
|
wd:statement/Q28065621-F8817FA9-CCDB-45F3-9E9E-438F46543039
|
|
p:P2892
|
wd:statement/Q28065621-4F486638-228F-4C74-8ADD-4DFD17B86A59
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|
wd:statement/Q28065621-54536801-6150-4A6B-A068-EB0C5CDEDE18
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|
p:P31
|
wd:statement/Q28065621-3D74A2D3-173D-4C36-98D3-E233C5D4B583
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|
wd:statement/Q28065621-B9C3015B-817B-43EB-9EB5-9B8AD7A5C20B
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|
p:P492
|
wd:statement/Q28065621-0FF8719E-2878-431C-B14E-90FC2A046925
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|
p:P5008
|
wd:statement/Q28065621-A805E2BC-464C-476B-A694-E71203384093
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p:P5270
|
wd:statement/Q28065621-5EEE2861-D8B1-4EDD-AF1D-BACE8586D637
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p:P6532
|
wd:statement/Q28065621-329D5319-52FA-4EFD-BE8B-8EEAFF9E0028
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wd:statement/Q28065621-69A00529-1080-4AB0-A97C-C192EB05C587
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wd:statement/Q28065621-6FD1E3A1-B548-4420-A642-29C84981AB15
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wd:statement/Q28065621-7B89E4F1-B795-43D6-8C32-EB92D366EE67
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wd:statement/Q28065621-7DAAEA42-7F29-43A6-9752-762AFF9BB20C
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wd:statement/Q28065621-8228FBC9-740A-44E4-AC8A-B36060C12834
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|
wd:statement/Q28065621-8B1D9553-6FEF-433A-A5F3-4AC345441332
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|
wd:statement/Q28065621-93C5B7E8-6D3A-4D61-9094-631B1B25DB8B
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|
wd:statement/Q28065621-9732306D-3942-4495-810F-2EFD4AF9E1BA
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|
wd:statement/Q28065621-A3101D14-2CC3-4FF9-89A7-282AA0146EC7
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|
wd:statement/Q28065621-E212D569-3AF1-4C1C-A7F9-27739955F062
|
|
wd:statement/Q28065621-E4D2AB09-66F0-4B0E-8B61-AA66DA6F9FD6
|
|
p:P699
|
wd:statement/Q28065621-58825918-1E9F-4D25-93DF-9F3D839AB834
|
|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0010501>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0060817>
|
|
wdt:P11430
|
"DI-04618"
|
|
wdt:P1193
|
0.000001^^xsd:decimal
|
|
wdt:P14914
|
"D466791"
|
|
wdt:P1550
|
"466791"
|
|
wdt:P2293
|
NONO
|
|
wdt:P279
|
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
|
|
X-linked intellectual disability
|
|
wdt:P2841
|
infantile onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0060817>
|
|
<http://purl.obolibrary.org/obo/DOID_0060817>
|
|
wdt:P2892
|
"C4225417"
|
|
"C5569083"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P492
|
"300967"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0010501"
|
|
wdt:P6532
|
Axial hypotonia
|
|
Synostosis involving the 1st metacarpal
|
|
Persistent head lag
|
|
perseveration
|
|
impulsivity
|
|
obstructive sleep apnea
|
|
cardiomegaly
|
|
hypotonia
|
|
tremor
|
|
global developmental delay
|
|
disability affecting intellectual abilities
|
|
macrocephaly
|
|
wdt:P699
|
"DOID:0060817"
|