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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Fumaric aciduria | |
| Synonyms |
Fumarase deficiency |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_3376 |
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
Fumarase deficiency
|
|
| id_Medline |
http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fumarate+hydratase/df%5Bmajr%5D |
|
| id_MeSH |
C538191
|
|
| id_MIM |
606812
|
|
| id_OMS |
E88.8
|
|
| id_Orpha |
24
|
|
| id_SNOMEDCT |
124616002 237983002
|
|
| id_UMLS |
C0342770 C2936826
|
|
| inheritance |
Autosomal recessive
|
|
| patType |
disease
|
|
| prefixIRI |
hrdo:pat_id_3376
|
|
| prefLabel |
Fumaric aciduria
|
|
| prevalence |
<1 / 1 000 000
|
|
| subClassOf |
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