loading...| Preferred Name |
biotinidase deficiency |
|
| Synonyms |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase |
|
| Definitions |
A multiple carboxylase deficiency that involves a deficiency in biotinidase. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_856 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
ICD10CM:D81.810 SNOMEDCT_US_2020_03_01:8808004 OMIM:253260 UMLS_CUI:C0220754 MESH:D028921 GARD:894 NCI:C84598 |
|
| has exact synonym |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:856 |
|
| imported from | ||
| in_subset | ||
| label |
biotinidase deficiency |
|
| notation |
DOID:856 |
|
| prefLabel |
biotinidase deficiency |
|
| textual definition |
A multiple carboxylase deficiency that involves a deficiency in biotinidase. |
|
| subClassOf |
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