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Mondo Disease Ontology
| Preferred Name | biotinidase deficiency | |
| Synonyms |
multiple carboxylase deficiency, juvenile-onset biotin deficiency multiple carboxylase deficiency, late-onset late-onset biotin-responsive multiple carboxylase deficiency late-onset multiple carboxylase deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency biotinidase deficiency BTD deficiency |
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| Definitions |
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009665 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009665 |
|
| database_cross_reference |
GARD:894 MedDRA:10071434 MESH:D028921 DOID:856 NORD:857 UMLS:C0220754 OMIM:253260 NCIT:C84598 NANDO:1200822 MEDGEN:66323 ICD9:277.6 SCTID:8808004 ICD10CM:D81.810 Orphanet:79241
|
|
| definition |
A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.
|
|
| has_exact_synonym |
late-onset multiple carboxylase deficiency deficiency of biotinidase juvenile-onset multiple carboxylase deficiency biotinidase deficiency BTD deficiency
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|
| has_related_synonym |
multiple carboxylase deficiency, juvenile-onset biotin deficiency multiple carboxylase deficiency, late-onset late-onset biotin-responsive multiple carboxylase deficiency
|
|
| id |
MONDO:0009665
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
biotinidase deficiency
|
|
| notation |
MONDO:0009665
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|
| prefLabel |
biotinidase deficiency
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/medgen/66323 http://purl.obolibrary.org/obo/Orphanet_79241 http://identifiers.org/mesh/D028921 http://purl.obolibrary.org/obo/NCIT_C84598 http://purl.bioontology.org/ontology/ICD10CM/D81.810 http://linkedlifedata.com/resource/umls/id/C0220754 |
|
| terms_conformsTo |
http://purl.obolibrary.org/obo/inborn_metabolic.yaml http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml |
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