hypermethioninemia due to adenosine kinase deficiency

human disease
rdfs:label
"hypermethioninemia due to adenosine kinase deficiency"@en
skos:altLabel "ADK hypermethioninemia"@en
"HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY"@en
"MRT8"@en
"autosomal recessive mental retardation 8"@en
"hypermethioninemia encephalopathy due to ADK deficiency"@en
"hypermethioninemia encephalopathy due to adenosine kinase deficiency"@en
schema:description
"human disease"@en
schema:dateModified "2026-10-23T23:57:38+00:00"^^xsd:dateTime
schema:version 2560160708
wikibase:identifiers 10
wikibase:sitelinks 0
wikibase:statements 21
p:P11430 wd:statement/Q42863587-efb0ecde-4997-dd72-d720-ae9fc8005384
p:P14914 wd:statement/Q42863587-DA03731B-1C2E-468C-9F59-42831E5B5453
p:P1550 wd:statement/Q42863587-2EF7D8AF-2DB2-4A27-89BB-69C124138E0C
p:P2293 wd:statement/Q42863587-55AB4FE2-66D4-4926-81DF-841A848A5BD8
p:P279 wd:statement/Q42863587-73B10FE9-FC28-46D5-9FC4-7E658C76555C
wd:statement/Q42863587-8621ACD7-3A98-4C9A-B1A2-86AB70390165
wd:statement/Q42863587-93D6F46A-B255-442F-83FE-ECD3255A0913
p:P2841 wd:statement/Q42863587-9BEAFBB2-BAE7-41E5-A00E-8CFEBAC8E42B
p:P2888 wd:statement/Q42863587-2F506ECA-64D6-4513-A1EB-A5ABF7C9635D
wd:statement/Q42863587-C68DA987-7BDE-4EDD-B530-E6ED61029B93
wd:statement/Q42863587-CF436049-BEFE-4982-9E50-C31E0341B799
p:P2892 wd:statement/Q42863587-20F13C5C-048B-4B23-847C-8ECBF76D7CBE
wd:statement/Q42863587-568F9430-E224-452C-A290-AFA109FE016D
p:P31 wd:statement/Q42863587-83BCE7DF-9078-4D6A-A8F9-B29F95D9C550
wd:statement/Q42863587-8A5026AD-7D78-4672-8EEA-B64792C6A996
p:P4229 wd:statement/Q42863587-0D7A2BD0-1693-49A8-B9AF-4EAC2F972A1F
p:P486 wd:statement/Q42863587-DBB976C1-25C9-4DAA-9206-ED2FCE0F3338
p:P492 wd:statement/Q42863587-DDBED271-78FC-4C3A-A0BE-6C157DA65548
p:P5008 wd:statement/Q42863587-C371B83D-1FFD-41E4-9EA4-E37A104926A0
p:P5270 wd:statement/Q42863587-B0C34257-3F79-40C1-900C-92869CD1E5A4
p:P699 wd:statement/Q42863587-29D95CF7-C7AC-41B4-BB84-D528E3CB88DA
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C567015>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0013676>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0111038>
wdt:P11430 "DI-03295"
wdt:P14914 "D289290"
wdt:P1550 "289290"
wdt:P2293 ADK
wdt:P279 hypermethioninemia
neurometabolic disease
sulfuraminoacidemia
wdt:P2841 childhood onset
wdt:P2888 <http://identifiers.org/doid/DOID:0111038>
<http://purl.obolibrary.org/obo/DOID_0111038>
<http://www.orpha.net/ORDO/Orphanet_289290>
wdt:P2892 "C3280381"
"C4706555"
wdt:P31 type of disease
rare disease
wdt:P4229 "E72.1"
wdt:P486 "C567015"
wdt:P492 "614300"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0013676"
wdt:P699 "DOID:0111038"
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