OBO ID: DOID:0080038
Term Name: pycnodysostosis Search Ontology:
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 pycnodysostosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CTSK Pycnodysostosis 265800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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