Search Ontology:
Human Disease

pycnodysostosis

Term ID
DOID:0080038
Synonyms
Definition
An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. http://en.wikipedia.org/wiki/Pycnodysostosis
References
Ontology
Human Disease   ( DOID:0080038 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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