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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closeMatch | ||
database_cross_reference |
Orphanet:148 MESH:D009100 DOID:857 MedDRA:10028176 UMLS:C0026755 ICD10CM:D81.819 GARD:3824 |
|
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. |
|
exactMatch |
http://purl.bioontology.org/ontology/ICD10CM/D81.819 http://identifiers.org/mesh/D009100 http://linkedlifedata.com/resource/umls/id/C0026755 |
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has characteristic | ||
has_exact_synonym |
multiple carboxylase deficiency MCD |
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IAO_0000233 | ||
id |
MONDO:0015454 |
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in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
label |
multiple carboxylase deficiency |
|
notation |
MONDO:0015454 |
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prefLabel |
multiple carboxylase deficiency |
|
treeView |
http://purl.obolibrary.org/obo/MONDO_0019214 |
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excluded subClassOf | ||
subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019214 |