Disease association ontology term - MONDO:0009666 - holocarboxylase synthetase deficiency
Term summary
- ID
- MONDO:0009666
- Name
- holocarboxylase synthetase deficiency
- Ontology or CV name
- Disease association
- Definition
- A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.
