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BioAssay Ontology
Last uploaded:
February 21, 2024
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| Preferred Name | biotinidase deficiency | |
| Synonyms |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase |
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| Definitions |
A multiple carboxylase deficiency that involves a deficiency in biotinidase. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_856 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
ICD10CM:D81.810 SNOMEDCT_US_2020_03_01:8808004 OMIM:253260 UMLS_CUI:C0220754 MESH:D028921 GARD:894 NCI:C84598
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| has exact synonym |
Late-onset multiple carboxylase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency deficiency of biotinidase
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| has_obo_namespace |
disease_ontology
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|
| id |
DOID:856
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| imported from | ||
| in_subset | ||
| label |
biotinidase deficiency
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|
| notation |
DOID:856
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| prefLabel |
biotinidase deficiency
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|
| textual definition |
A multiple carboxylase deficiency that involves a deficiency in biotinidase.
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| subClassOf |
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