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rdfs:label
|
"Deficiência de S-adenosil-homocisteína hidrolase"@pt
"Deficiência de S-adenosil-homocisteína hidrolase"@pt-br
"hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"@en
"retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase"@fr
|
|
skos:altLabel
|
"HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY"@en
|
|
"hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency"@en
|
|
"psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency"@en
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|
schema:description
|
"human disease"@en
"хвороба людини"@uk
"մարդու հիվանդություն"@hy
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|
schema:dateModified
|
"2026-10-24T00:40:27+00:00"^^xsd:dateTime
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schema:version
|
2560167862
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|
wikibase:identifiers
|
9
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|
wikibase:sitelinks
|
0
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|
wikibase:statements
|
45
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p:P11430
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wd:statement/Q32146367-961b279f-473f-4241-7a24-8324cefb2937
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p:P1193
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wd:statement/Q32146367-AB070D28-DFA0-416C-9426-337BDDAA2466
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wd:statement/Q32146367-3CF3984C-DAA7-46CF-A399-5C0B6B18E892
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p:P1550
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wd:statement/Q32146367-4846E15D-2C63-46F2-9B59-CFD435CBCFC9
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p:P2293
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wd:statement/Q32146367-E28C750F-B16E-4E1F-84C7-97F6F8F05BCC
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p:P279
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wd:statement/Q32146367-2C28C9C7-D9BF-469A-BF27-B27D5F260B78
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wd:statement/Q32146367-702201EC-78E3-445C-B7EF-539CF6BF4465
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p:P2841
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wd:statement/Q32146367-17865709-FEEC-4E18-B780-7A0E1873A116
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wd:statement/Q32146367-600494A4-3FE2-41DA-8E63-569898D3A9A6
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wd:statement/Q32146367-D88C2749-A0CC-4307-B103-EC2F0CC48A1E
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p:P2888
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wd:statement/Q32146367-1B648331-BBD9-46A0-88BD-0A0445971461
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wd:statement/Q32146367-4C864B46-5043-4DCD-A725-A51A349DA9A2
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wd:statement/Q32146367-C582E219-8A0D-40A8-AF52-2A24A0E359E9
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p:P2892
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wd:statement/Q32146367-9303EF6A-026E-4171-8C23-2DFA8888034F
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p:P31
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wd:statement/Q32146367-779D7E0D-53FB-4E0E-89C9-D3A6A5BBB932
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wd:statement/Q32146367-9B04D357-8495-41ED-868B-C4478D1A83D4
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p:P4229
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wd:statement/Q32146367-BDC23596-FF87-45D4-A167-EEC62877BD70
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p:P4317
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wd:statement/Q32146367-64678548-83FA-4121-8F0C-714915335F2E
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p:P492
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wd:statement/Q32146367-2CCDC085-DF33-4D22-AAB6-E2A0B581E94C
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p:P5008
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wd:statement/Q32146367-EEAB4B0A-293D-49A1-8564-2A4758B015D1
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p:P5270
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wd:statement/Q32146367-D48C215B-DDD0-4CBE-AEB3-F0A1124676E4
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p:P6532
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wd:statement/Q32146367-097DFD13-D0DC-4686-AF86-4C95A21A6F85
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wd:statement/Q32146367-9682DCA5-EDEE-4597-842A-64D3BE1E5B19
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wd:statement/Q32146367-A3287F29-7048-44FD-AF31-A8BABBD98BF0
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wd:statement/Q32146367-A3CC00FC-34B2-4F8B-BDF7-434924BA5E78
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wd:statement/Q32146367-AB301FAE-2F7F-4E93-A9C5-D92B20C31C7B
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wd:statement/Q32146367-CD907A59-A27D-4183-9213-3F4AABC394BE
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wd:statement/Q32146367-CDCF9237-1726-42C0-8AF4-BC108FCC732F
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wd:statement/Q32146367-D07DADD9-1359-4068-9759-3B1841015517
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wd:statement/Q32146367-EA2C8BAB-7ED8-4E5E-A57D-532CF8484220
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wd:statement/Q32146367-F5A7141F-6CE4-49F5-8CA7-BEF863B29871
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p:P699
|
wd:statement/Q32146367-D207F2B4-5848-4511-9432-FFE9BF78B972
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|
p:direct-normalized/P5270
|
<http://purl.obolibrary.org/obo/MONDO_0013404>
|
|
p:direct-normalized/P699
|
<http://purl.obolibrary.org/obo/DOID_DOID:0111039>
|
|
wdt:P11430
|
"DI-01774"
|
|
wdt:P1193
|
0.000001^^xsd:decimal
|
|
wdt:P14914
|
"D88618"
|
|
wdt:P1550
|
"88618"
|
|
wdt:P2293
|
AHCY
|
|
wdt:P279
|
hypermethioninemia
|
|
sulfuraminoacidemia
|
|
genetic syndromic intellectual disability
|
|
wdt:P2841
|
congenital onset
|
|
neonatal onset
|
|
infantile onset
|
|
childhood onset
|
|
juvenile onset
|
|
adult onset
|
|
wdt:P2888
|
<http://identifiers.org/doid/DOID:0111039>
|
|
<http://purl.obolibrary.org/obo/DOID_0111039>
|
|
<http://www.orpha.net/ORDO/Orphanet_88618>
|
|
wdt:P2892
|
"C3151058"
|
|
wdt:P31
|
type of disease
|
|
rare disease
|
|
wdt:P4229
|
"E72.1"
|
|
wdt:P4317
|
"13177"
|
|
wdt:P492
|
"613752"
|
|
wdt:P5008
|
WikiProject Medicine
|
|
wdt:P5270
|
"MONDO_0013404"
|
|
wdt:P6532
|
Hypofibrinogenemia
|
|
Growth delay
|
|
hepatocellular carcinoma
|
|
hypermethioninemia
|
|
Infantile onset
|
|
Floppy infant
|
|
Hyperintensity of cerebral white matter on MRI
|
|
failure to thrive
|
|
hypoalbuminemia
|
|
developmental regression
|
|
hypotonia
|
|
global developmental delay
|
|
muscle weakness
|
|
abnormal facial shape
|
|
microcephaly
|
|
tooth abnormality
|
|
abnormal liver storage
|
|
respiratory failure
|
|
cardiomyopathy
|
|
wdt:P699
|
"DOID:0111039"
|