loading...| 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 |
|
| closeMatch | ||
| database_cross_reference |
Orphanet:148 MedDRA:10028176 MEDGEN:10119 NANDO:1200820 MESH:D009100 ICD10CM:D81.819 NANDO:2200500 UMLS:C0026755 DOID:857 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 http://identifiers.org/medgen/10119 |
|
| has_exact_synonym |
multiple carboxylase deficiency MCD |
|
| IAO_0000233 | ||
| id |
MONDO:0015454 |
|
| 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 |
|
| preferred label |
multiple carboxylase deficiency |
|
| prefLabel |
multiple carboxylase deficiency |
|
| excluded_subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019214 |