Disease association ontology term - MONDO:0011730 - fumaric aciduria
Term summary
- ID
- MONDO:0011730
- Name
- fumaric aciduria
- Ontology or CV name
- Disease association
- Definition
- Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
