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Cell Culture Ontology
| Preferred Name | multiple carboxylase deficiency | |
| Synonyms |
multiple carboxylase deficiency MCD |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015454 |
|
| database_cross_reference |
icd11.foundation:1133091451 Orphanet:148 MedDRA:10028176 MEDGEN:10119 NANDO:1200820 MESH:D009100 ICD10CM:D81.819 NANDO:2200500 UMLS:C0026755 DOID:857 GARD:3824
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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_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/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
multiple carboxylase deficiency
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|
| notation |
MONDO:0015454
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|
| preferred label |
multiple carboxylase deficiency
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|
| prefLabel |
multiple carboxylase deficiency
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|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.bioontology.org/ontology/ICD10CM/D81.819 http://identifiers.org/mesh/D009100 http://linkedlifedata.com/resource/umls/id/C0026755 http://identifiers.org/medgen/10119 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1133091451 |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019214 |
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| excluded_subClassOf |
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