Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Biotinidase Deficiency
Synonyms	Biotinidase Deficiencies Deficiency, Multiple Carboxylase, Late-Onset Carboxylase Deficiency, Multiple, Late-Onset Deficiency, BTD Multiple Carboxylase Deficiency, Late Onset Deficiency, Biotinidase Late Onset Multiple Carboxylase Deficiency Late Onset Biotin Responsive Multiple Carboxylase Deficiency Deficiencies, Biotinidase Multiple Carboxylase Deficiency, Late-Onset BTD Deficiency BTD Deficiencies Late-Onset Multiple Carboxylase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiencies, BTD
Definitions	The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
ID	http://purl.bioontology.org/ontology/MESH/D028921
altLabel	Biotinidase Deficiencies Deficiency, Multiple Carboxylase, Late-Onset Carboxylase Deficiency, Multiple, Late-Onset Deficiency, BTD Multiple Carboxylase Deficiency, Late Onset Deficiency, Biotinidase Late Onset Multiple Carboxylase Deficiency Late Onset Biotin Responsive Multiple Carboxylase Deficiency Deficiencies, Biotinidase Multiple Carboxylase Deficiency, Late-Onset BTD Deficiency BTD Deficiencies Late-Onset Multiple Carboxylase Deficiency Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency Deficiencies, BTD
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0220754
DC	1
definition	The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
DX	20020101
FX	D001710
HN	2002
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D001710 http://purl.bioontology.org/ontology/MESH/D043523
Machine permutation	2002
Mapped from	http://purl.bioontology.org/ontology/MESH/C531633
MDA	20010803
MMR	20130708
MN	C18.452.648.202.720.100 C16.320.565.100.620.100 C18.452.648.100.620.100 C16.320.565.202.720.100
notation	D028921
prefLabel	Biotinidase Deficiency
TERMUI	T839330 T446812 T443038 T443037 T440282 T843583 T442104 T839331
TH	OMIM (2013) NLM (2002) GHR (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D009100

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/NDFRT/N0000010998	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D028921	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNMI/D6-B2230	SNMI	CUI
http://purl.bioontology.org/ontology/OMIM/253260	OMIM	CUI
http://purl.bioontology.org/ontology/LNC/LA12532-0	LOINC	CUI
http://purl.bioontology.org/ontology/ICD10CM/D81.810	ICD10CM	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU011117	OMIM	CUI
http://purl.bioontology.org/ontology/MEDDRA/10071434	MEDDRA	CUI
http://purl.bioontology.org/ontology/LNC/LP56771-6	LOINC	CUI
http://purl.bioontology.org/ontology/MDRFRE/10071434	MDRFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10071434	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/8808004	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/609019	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/X40TG	RCD	CUI
http://purl.bioontology.org/ontology/LNC/MTHU021599	LOINC	CUI
http://purl.bioontology.org/ontology/SCTSPA/8808004	SCTSPA	CUI
http://purl.obolibrary.org/obo/DOID_856	DOID	LOOM
http://identifiers.org/omim/253260	REXO	LOOM
http://identifiers.org/omim/253260	GEXO	LOOM
http://identifiers.org/omim/253260	RETO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.620.100	RH-MESH	LOOM
http://id.nlm.nih.gov/mesh/D028921	MDM	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_856	NATPRO	LOOM
http://purl.obolibrary.org/obo/DERMO_0000520	DERMO	LOOM
http://purl.obolibrary.org/obo/OMIM_253260	CCO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#21183	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D028921	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11267	HRDO	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-B2230	SNMI	LOOM
http://purl.bioontology.org/ontology/OMIM/253260	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C84598	BERO	LOOM
http://purl.bioontology.org/ontology/LNC/LA12532-0	LOINC	LOOM
http://purl.bioontology.org/ontology/ICD10CM/D81.810	ICD10CM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.202.720.100	RH-MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU011117	OMIM	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15069	DERMLEX	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.620.100	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906064227205932	IOBC	LOOM
rgo:26325	GAMUTS	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10071434	MEDDRA	LOOM
http://nanbyodata.jp/ontology/NANDO_1200822	NANDO	LOOM
http://purl.bioontology.org/ontology/LNC/LP56771-6	LOINC	LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Biotinidase_Deficiency	PEDTERM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.202.720.100	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84598	NCIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Biotinidase_Deficiency	CSEO	LOOM
http://purl.obolibrary.org/obo/DOID_856	CLO	LOOM
http://purl.obolibrary.org/obo/DOID_856	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_856	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_856	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_856	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_856	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0009665	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009665	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009665	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0009665	EFO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/8808004	SNOMEDCT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0220754	OCHV	LOOM
http://purl.bioontology.org/ontology/RCD/X40TG	RCD	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036671	PMAPP-PMO	LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021599	LOINC	LOOM
http://www.orpha.net/ORDO/Orphanet_79241	ORDO	LOOM
http://purl.obolibrary.org/obo/OMIT_0021476	OMIT	LOOM