Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

PYCNODYSOSTOSIS

Synonyms

PKND

ID

http://purl.bioontology.org/ontology/OMIM/265800

altLabel

PKND

PYKNODYSOSTOSIS

PYCD

cui

C0238402

Gene Locus

1q21

Gene Symbol

CTSK

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU009822

http://purl.bioontology.org/ontology/OMIM/MTHU009828

http://purl.bioontology.org/ontology/OMIM/MTHU009820

http://purl.bioontology.org/ontology/OMIM/MTHU001627

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU004841

http://purl.bioontology.org/ontology/OMIM/MTHU009817

http://purl.bioontology.org/ontology/OMIM/MTHU009815

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU009827

http://purl.bioontology.org/ontology/OMIM/MTHU009821

http://purl.bioontology.org/ontology/OMIM/MTHU009825

http://purl.bioontology.org/ontology/OMIM/MTHU009813

http://purl.bioontology.org/ontology/OMIM/MTHU009819

http://purl.bioontology.org/ontology/OMIM/MTHU009811

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU009823

http://purl.bioontology.org/ontology/OMIM/MTHU009829

http://purl.bioontology.org/ontology/OMIM/MTHU007901

http://purl.bioontology.org/ontology/OMIM/MTHU036588

http://purl.bioontology.org/ontology/OMIM/MTHU005522

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU000580

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU009824

http://purl.bioontology.org/ontology/OMIM/MTHU009812

http://purl.bioontology.org/ontology/OMIM/MTHU009818

http://purl.bioontology.org/ontology/OMIM/MTHU028527

http://purl.bioontology.org/ontology/OMIM/MTHU009816

http://purl.bioontology.org/ontology/OMIM/MTHU009814

http://purl.bioontology.org/ontology/OMIM/MTHU009826

http://purl.bioontology.org/ontology/OMIM/MTHU002570

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

265800

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

PYCNODYSOSTOSIS

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D058631 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D058631 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_0080038 Human Disease Ontology 123 LOOM