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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | fumaric aciduria | |
| Synonyms |
FMRD fumarate hydratase deficiency fumaric aciduria fumarase deficiency |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0011730 |
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| 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.
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|
| has_exact_synonym |
fumaric aciduria fumarase deficiency
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|
| has_related_synonym |
FMRD fumarate hydratase deficiency
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|
| label |
fumaric aciduria
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|
| prefixIRI |
MONDO:0011730
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|
| prefLabel |
fumaric aciduria
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|
| 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.
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|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016790 |
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