loading...| Preferred Name |
fumaric aciduria |
|
| Synonyms |
FMRD fumarate hydratase deficiency fumaric aciduria fumarase deficiency |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0011730 |
|
| altLabel |
FMRD fumarate hydratase deficiency fumaric aciduria fumarase deficiency |
|
| 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. |
|
| has_exact_synonym |
fumaric aciduria fumarase deficiency |
|
| has_related_synonym |
FMRD fumarate hydratase deficiency |
|
| label |
fumaric aciduria |
|
| prefixIRI |
MONDO:0011730 |
|
| prefLabel |
fumaric aciduria |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016790 |