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Digital medicine Outcomes Value Set (DOVeS) Ontology
| Preferred Name | biotinidase deficiency | |
| Synonyms |
multiple carboxylase deficiency, juvenile-onset biotin deficiency multiple carboxylase deficiency, late-onset late-onset biotin-responsive multiple carboxylase deficiency late-onset multiple carboxylase deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency biotinidase deficiency BTD deficiency |
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| Definitions |
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009665 |
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| altLabel |
multiple carboxylase deficiency, juvenile-onset biotin deficiency multiple carboxylase deficiency, late-onset late-onset biotin-responsive multiple carboxylase deficiency late-onset multiple carboxylase deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency biotinidase deficiency BTD deficiency
|
|
| definition |
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
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| has_exact_synonym |
late-onset multiple carboxylase deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency biotinidase deficiency BTD deficiency
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| has_related_synonym |
multiple carboxylase deficiency, juvenile-onset biotin deficiency multiple carboxylase deficiency, late-onset late-onset biotin-responsive multiple carboxylase deficiency
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|
| label |
biotinidase deficiency
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|
| prefixIRI |
MONDO:0009665
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|
| prefLabel |
biotinidase deficiency
|
|
| textual definition |
Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015653 http://purl.obolibrary.org/obo/MONDO_0015454 http://purl.obolibrary.org/obo/MONDO_0019213 http://purl.obolibrary.org/obo/MONDO_0017760 |
| Delete | Subject | Author | Type | Created |
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