maple syrup urine disease

Name: maple syrup urine disease
Ontological Reference: MONDO:0009563

ClinVar Variants: View ClinVar Variants
External Resources: View external resources

DBT - maple syrup urine disease | MONDO:0009563

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	10/30/2018	View report
Gene Dosage Sensitivity	Gene Associated with Autosomal Recessive Phenotype	05/31/2017	View report

BCKDHB - maple syrup urine disease | MONDO:0009563

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	Gene Associated with Autosomal Recessive Phenotype	05/31/2017	View report

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