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Mondo Disease 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 |
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| database_cross_reference |
Orphanet:148 icd11.foundation:1133091451 MESH:D009100 DOID:857 NANDO:1200820 MedDRA:10028176 UMLS:C0026755 NANDO:2200500 ICD10CM:D81.819 MEDGEN:10119 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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| excluded_from_qc_check |
http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql |
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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-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
multiple carboxylase deficiency
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|
| notation |
MONDO:0015454
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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 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0019214 |
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| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019214 |
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