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Disease core ontology applied to Rare Diseases
Last uploaded:
February 7, 2014
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| Preferred Name | Biotinidase deficiency | |
| Synonyms |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency |
|
| ID |
http://www.limics.org/hrdo/rdfns#pat_id_11267 |
|
| ageOfDeath |
No data available
|
|
| ageOfOnset |
Neonatal/infancy
|
|
| altLabel |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency
|
|
| id_Medline |
neant
|
|
| id_MIM |
253260
|
|
| id_OMS |
E53.8
|
|
| id_Orpha |
79241
|
|
| inheritance |
Autosomal recessive
|
|
| patType |
disease
|
|
| prefixIRI |
hrdo:pat_id_11267
|
|
| prefLabel |
Biotinidase deficiency
|
|
| prevalence |
1-9 / 100 000
|
|
| subClassOf |
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