Disease association ontology term - MONDO:0015454 - multiple carboxylase deficiency
Term summary
- ID
- MONDO:0015454
- Name
- multiple carboxylase deficiency
- Ontology or CV name
- Disease association
- Definition
- Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.
