Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

BIOTINIDASE
Synonyms

BIOTINIDASE DEFICIENCY

BTD
ID

http://purl.bioontology.org/ontology/OMIM/609019
altLabel

BIOTINIDASE DEFICIENCY

BTD
cui

C1412833

C0220754
Gene Locus

3p25
Gene Symbol

BTD
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/609019.0010

http://purl.bioontology.org/ontology/OMIM/609019.0011

http://purl.bioontology.org/ontology/OMIM/609019.0012

http://purl.bioontology.org/ontology/OMIM/609019.0013

http://purl.bioontology.org/ontology/OMIM/609019.0004

http://purl.bioontology.org/ontology/OMIM/609019.0006

http://purl.bioontology.org/ontology/OMIM/609019.0003

http://purl.bioontology.org/ontology/OMIM/609019.0008

http://purl.bioontology.org/ontology/OMIM/609019.0009

http://purl.bioontology.org/ontology/OMIM/609019.0002

http://purl.bioontology.org/ontology/OMIM/609019.0001

http://purl.bioontology.org/ontology/OMIM/609019.0007

http://purl.bioontology.org/ontology/OMIM/609019.0005
MIMTYPEMEANING

Gene with known sequence
notation

609019
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

BIOTINIDASE
tui

T047

T028
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP71410-2 LOINC CUI
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/LNC/LA12532-0 LOINC CUI
http://purl.bioontology.org/ontology/ICD10CM/D81.810 ICD10CM 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/RCD/X40TG RCD CUI
http://purl.bioontology.org/ontology/LNC/MTHU021599 LOINC CUI
http://purl.bioontology.org/ontology/SCTSPA/8808004 SCTSPA CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C190313 NCIT LOOM
http://purl.bioontology.org/ontology/RCD/X80LY RCD LOOM
http://purl.bioontology.org/ontology/LNC/LP15452-3 LOINC LOOM
http://purl.obolibrary.org/obo/PR_000004838 PR LOOM
http://purl.obolibrary.org/obo/PR_000004838 CCONT LOOM
http://purl.obolibrary.org/obo/PR_000004838 NIFSTD LOOM
http://purl.obolibrary.org/obo/PR_000004838 EFO LOOM
http://purl.obolibrary.org/obo/PR_000004838 OBA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/52722004 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D043523 MESH LOOM
http://www.orpha.net/ORDO/Orphanet_119092 ORDO LOOM
http://purl.bioontology.org/ontology/SNMI/F-6B188 SNMI LOOM
http://purl.obolibrary.org/obo/OMIT_0023266 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D043523 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00019320 PMAPP-PMO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#13594 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/MTHU008878 LOINC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0053653 OCHV LOOM
http://id.nlm.nih.gov/mesh/D043523 MDM LOOM
http://purl.jp/bio/4/id/200906037161564360 IOBC LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15382 HRDO LOOM
http://purl.obolibrary.org/obo/MESH_D043523 BERO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.277.087.200 RH-MESH LOOM