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Preferred Name

Biotinidase deficiency
Synonyms

Late-onset multiple carboxylase deficiency

Juvenile multiple carboxylase deficiency
ID

http://purl.bioontology.org/ontology/SNMI/D6-B2230
altLabel

Late-onset multiple carboxylase deficiency

Juvenile multiple carboxylase deficiency
Associated with

http://purl.bioontology.org/ontology/SNMI/M-27000

http://purl.bioontology.org/ontology/SNMI/F-6B188
cui

C0220754
notation

D6-B2230
prefLabel

Biotinidase deficiency
SMX

(M-27000) (F-6B188)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/SNMI/D6-B2000
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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/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/MESH/D028921 MESH 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/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://purl.bioontology.org/ontology/MESH/D028921 MESH 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