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 |
|
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 |