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Details on Person hyperargininemia

Class:IdDisease:9956469
_displayNamehyperargininemia
_timestamp2025-06-12 23:28:26
created[InstanceEdit:9956459] Rothfels, Karen, 2025-06-12
definitionOMIM mapping confirmed by DO. [SN].
identifier9278
namehyperargininemia
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymdeficiency of canavanase
argininemia
Arginase deficiency
(disease)[FailedReaction:9956512] ARG1 variants don't synthesize urea and ornithine [Homo sapiens]
[Pathway:9956514] ARG1 variants cause hyperargininemia [Homo sapiens]
[Complex:9956447] ARG1 variant trimers [cytosol] [Homo sapiens]
[DefinedSet:9956464] ARG1 variants [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959598] ARG1 A125V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959601] ARG1 G138V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959604] ARG1 G235R [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959606] ARG1 G27D [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959609] ARG1 G74V [cytosol] [Homo sapiens]
[EntityWithAccessionedSequence:9959613] ARG1 I11T [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by hyperargininemia (9956469)