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Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (Disease Or Phenotype)

Ordo:ORDO:70594

Omim:612716

Msh:C562657

Mondo:MONDO:12994

Id:79889207-34bf-5ed8-9381-fbe6d4b9deb5

Doid:DOID:111168

Results found

Linked to

	Label	Description
	serotonin correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics
	Homovanillic Acid correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics
	3-Methoxytyrosine correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics
	sepiapterin correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics
	Biopterins correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics
	Neopterin correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics
	Dopa correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics
	Levodopa correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics
	Methoxyhydroxyphenylglycol correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics
	Hydroxyindoleacetic Acid correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency Knowledge Graph Assertion (Entity type)	A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

serotonin correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

Homovanillic Acid correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

3-Methoxytyrosine correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

sepiapterin correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

Biopterins correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

Neopterin correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

Dopa correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

Levodopa correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

Methoxyhydroxyphenylglycol correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

Knowledge Graph Assertion

Hydroxyindoleacetic Acid correlated with condition Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency

Knowledge Graph Assertion (Entity type)

A Knowledge Graph Assertion from Metabolomics

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2025

This repository is under review for potential modification in compliance with Administration directives.