Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Id http://identifiers.org/omim/243500
http://identifiers.org/omim/243500
Preferred Name

Isovaleric acidemia

Definitions
(IVA) - A metabolic disorder characterized by retarded psychomotor development, a peculiar odor resembling sweaty feet, an aversion to dietary protein, and pernicious vomiting, leading to acidosis and coma. The acute neonatal form leads to massive metabolic acidosis from the first days of life and rapid death.
Synonyms
IVA
Type http://www.w3.org/2002/07/owl#Class
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