has material basis in germline mutation in disease has feature CTSK Severe short stature Osteopetrosis lysosomal storage disease osteochondrodysplasia pycnodysostosis https://github.com/monarch-initiative/mondo/issues/4948 https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis https://www.malacards.org/card/pycnodysostosis SCTID:89647000 DOID:0080038 NORD:1637 icd11.foundation:1329974152 PKND UMLS:C0238402 Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. GARD:0004611 Orphanet:763 MONDO:0009940 MEDGEN:116061 NANDO:2201023 MESH:D058631 NCIT:C131187 OMIM:265800 pycnodysostosis Pycd Pyknodysostosis osteopetrosis