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Details on Person carbamoyl phosphate synthetase I deficiency disease

Class:Id	Disease:9955434
_displayName	carbamoyl phosphate synthetase I deficiency disease
_timestamp	2025-06-10 18:06:30
created	[InstanceEdit:9955409] Rothfels, Karen, 2025-06-10
definition	OMIM mapping confirmed by DO. [SN].
identifier	9280
name	carbamoyl phosphate synthetase I deficiency disease
referenceDatabase	[ReferenceDatabase:1247631] DOID
synonym	CPS I deficiency
(disease)	[Pathway:9955542] CPS1 variants cause CPS1 deficiency [Homo sapiens] [FailedReaction:9955543] CPS1 variants don't synthesize carbamoyl phosphate [Homo sapiens] [EntityWithAccessionedSequence:9955375] CPS1 R803G [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955376] CPS1 T544M [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955377] CPS1 A949T [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955378] CPS1 N355D [mitochondrial matrix] [Homo sapiens] [CandidateSet:9955380] integrating domain variants of CPS1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955381] CPS1 Q375* [mitochondrial matrix] [Homo sapiens] [CandidateSet:9955383] NAG-binding domain variants of CPS1 [mitochondrial matrix] [Homo sapiens] [EntityWithAccessionedSequence:9955384] CPS1 R721* [mitochondrial matrix] [Homo sapiens] List all 59 refering instances
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No pathways have been reviewed or authored by carbamoyl phosphate synthetase I deficiency disease (9955434)