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Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/265800
http://purl.bioontology.org/ontology/OMIM/265800
Preferred Name

PYCNODYSOSTOSIS
Synonyms
PKND
PYKNODYSOSTOSIS
PYCD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
PKND
PYKNODYSOSTOSIS
PYCD
prefLabel
PYCNODYSOSTOSIS
Gene Symbol
CTSK
notation
265800
Scope Statement
Caused by mutations in the cathepsin K gene (CTSK, 601105.0001) [MOLECULAR BASIS]
OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU003093
http://purl.bioontology.org/ontology/OMIM/MTHU009816
http://purl.bioontology.org/ontology/OMIM/MTHU009819
http://purl.bioontology.org/ontology/OMIM/MTHU009821
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU009811
http://purl.bioontology.org/ontology/OMIM/MTHU009822
http://purl.bioontology.org/ontology/OMIM/MTHU004841
http://purl.bioontology.org/ontology/OMIM/MTHU000580
http://purl.bioontology.org/ontology/OMIM/MTHU009824
http://purl.bioontology.org/ontology/OMIM/MTHU009815
http://purl.bioontology.org/ontology/OMIM/MTHU009823
http://purl.bioontology.org/ontology/OMIM/MTHU009829
http://purl.bioontology.org/ontology/OMIM/MTHU009827
http://purl.bioontology.org/ontology/OMIM/MTHU009812
http://purl.bioontology.org/ontology/OMIM/MTHU001627
http://purl.bioontology.org/ontology/OMIM/MTHU002570
http://purl.bioontology.org/ontology/OMIM/MTHU000073
http://purl.bioontology.org/ontology/OMIM/MTHU009814
http://purl.bioontology.org/ontology/OMIM/MTHU005522
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU009813
http://purl.bioontology.org/ontology/OMIM/MTHU036588
http://purl.bioontology.org/ontology/OMIM/MTHU009818
http://purl.bioontology.org/ontology/OMIM/MTHU009817
http://purl.bioontology.org/ontology/OMIM/MTHU009825
http://purl.bioontology.org/ontology/OMIM/MTHU009826
http://purl.bioontology.org/ontology/OMIM/MTHU007901
http://purl.bioontology.org/ontology/OMIM/MTHU009828
http://purl.bioontology.org/ontology/OMIM/MTHU000145
http://purl.bioontology.org/ontology/OMIM/MTHU009820
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MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
1q21
tui
T047
cui
C0238402
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