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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | multiple carboxylase deficiency | |
| Synonyms |
multiple carboxylase deficiency MCD |
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| Definitions |
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015454 |
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| altLabel |
multiple carboxylase deficiency MCD
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|
| definition |
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.
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| has characteristic | ||
| has_exact_synonym |
multiple carboxylase deficiency MCD
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| IAO_0000233 | ||
| label |
multiple carboxylase deficiency
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| prefixIRI |
MONDO:0015454
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| prefLabel |
multiple carboxylase deficiency
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| textual definition |
Multiple carboxylase deficiency (MCD) is a term used to describe inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019214 |
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