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inherited amino acid metabolic disorder

Disease Summary
Associated Targets (146)
Tbio

106

Tchem

27

Tclin

11

Tdark

2


GARD Rare
Mondo Description An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
Disease Ontology Description An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
Mondo Term and Equivalent IDs
MONDO:0004736:  inherited amino acid metabolic disorder
GARD:0006770: 
MESH:D000592: 
SCTID:42930003: