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Browse result for Pycnodysostosis
※ introduction 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.
Reference
DiseaseOntology: Pycnodysostosis
Reference
DiseaseOntology: Pycnodysostosis
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD05124 | P43235 | 1513 | CTSK | Cathepsin K | Homo sapiens |
