loading...| Preferred Name | Biotinidase Deficiency [Disease/Finding] | |
| Synonyms |
Biotinidase Deficiency Deficiency, Multiple Carboxylase, Late-Onset Carboxylase Deficiency, Multiple, Late-Onset Deficiency, Biotinidase Multiple Carboxylase Deficiency, Late-Onset BTD Deficiency Late-Onset Multiple Carboxylase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000010998 |
|
| altLabel |
Biotinidase Deficiency Deficiency, Multiple Carboxylase, Late-Onset Carboxylase Deficiency, Multiple, Late-Onset Deficiency, Biotinidase Multiple Carboxylase Deficiency, Late-Onset BTD Deficiency Late-Onset Multiple Carboxylase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency |
|
| cui |
C0220754 |
|
| MESH DEFINITION |
The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. |
|
| MESH DUI |
D028921 |
|
| MeSH name |
Biotinidase Deficiency |
|
| MESH UI |
M0381891 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000010998 |
|
| NUI |
N0000010998 |
|
| prefLabel |
Biotinidase Deficiency [Disease/Finding] |
|
| SNOMED CID |
8808004 |
|
| tui |
T047 |
|
| subClassOf |