Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
Jump to:
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
See more
See less
MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
1q21
tui
T047
cui
C0238402
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display