Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

CATHEPSIN K
Synonyms

CTSK

PYCNODYSOSTOSIS
ID

http://purl.bioontology.org/ontology/OMIM/601105
altLabel

CTSK

PYCNODYSOSTOSIS
cui

C0238402

C1413815
Gene Locus

1q21
Gene Symbol

CTSK
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601105.0004

http://purl.bioontology.org/ontology/OMIM/601105.0001

http://purl.bioontology.org/ontology/OMIM/601105.0007

http://purl.bioontology.org/ontology/OMIM/601105.0003

http://purl.bioontology.org/ontology/OMIM/601105.0006

http://purl.bioontology.org/ontology/OMIM/601105.0002

http://purl.bioontology.org/ontology/OMIM/601105.0005
MIMTYPEMEANING

Gene with known sequence
notation

601105
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

CATHEPSIN K
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/89647000 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LP208427-7 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10082973 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D058631 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-00B04 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D058631 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10082973 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10082973 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/PG59. RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/89647000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000182174 NDFRT CUI
http://purl.obolibrary.org/obo/PR_000001850 UBERON LOOM
http://purl.obolibrary.org/obo/PR_000001850 CL LOOM
http://purl.obolibrary.org/obo/PR_000001850 OBA LOOM
http://purl.obolibrary.org/obo/MESH_D056657 BERO LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15823 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90322 NCIT LOOM
http://purl.obolibrary.org/obo/dinto_2105 DINTO LOOM
http://purl.obolibrary.org/obo/NCIT_C90322 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D056657 MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0026672 OMIT LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0284930 OCHV LOOM
http://purl.bioontology.org/ontology/LNC/LP95081-3 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.277.656.262.500.156 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.277.656.300.200.156 RH-MESH LOOM
http://id.nlm.nih.gov/mesh/D056657 MDM LOOM
http://purl.bioontology.org/ontology/LNC/MTHU034316 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D08.811.277.656.224.405 RH-MESH LOOM
http://purl.obolibrary.org/obo/PR_000001850 PR LOOM
http://purl.obolibrary.org/obo/PR_000001850 CLO LOOM
http://purl.obolibrary.org/obo/PR_000001850 CCONT LOOM
http://purl.obolibrary.org/obo/PR_000001850 EFO LOOM
http://purl.obolibrary.org/obo/PR_000001850 PCL LOOM
http://purl.obolibrary.org/obo/PR_000001850 NIFDYS LOOM
http://purl.obolibrary.org/obo/PR_000001850 HHEAR LOOM
http://purl.obolibrary.org/obo/PR_000001850 UPHENO LOOM
http://purl.obolibrary.org/obo/PR_000001850 NIFSTD LOOM
http://purl.obolibrary.org/obo/PR_000001850 KTAO LOOM
http://www.orpha.net/ORDO/Orphanet_120897 ORDO LOOM
http://purl.jp/bio/4/id/200906008423012860 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056657 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#27712 OCHV LOOM
http://purl.org/skeletome/bonedysplasia#P000028 BDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00019598 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/130668008 SNOMEDCT LOOM