loading...| Preferred Name |
fumaric aciduria |
|
| Synonyms |
fumarate hydratase deficiency FMRD fumarase deficiency fumaric aciduria |
|
| 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 |
|
| database_cross_reference |
NANDO:2200520 MESH:C538191 DOID:0111261 UMLS:C0342770 SCTID:237983002 OMIM:606812 Orphanet:24 GARD:6476 ICD9:282.3 |
|
| 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. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0342770 http://identifiers.org/snomedct/237983002 http://purl.obolibrary.org/obo/DOID_0111261 http://purl.obolibrary.org/obo/Orphanet_24 |
|
| has_exact_synonym |
fumarase deficiency fumaric aciduria |
|
| has_related_synonym |
fumarate hydratase deficiency FMRD |
|
| id |
MONDO:0011730 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
fumaric aciduria |
|
| notation |
MONDO:0011730 |
|
| preferred label |
fumaric aciduria |
|
| prefLabel |
fumaric aciduria |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016790 |