{"code":"C131187","name":"Pycnodysostosis","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Pycnodysostosis","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Pycnodysostosis","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Pycnodysostosis","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination.","code":"P97","type":"DEFINITION","source":"NCI"},{"definition":"An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0238402"}],"parents":[{"code":"C27565","name":"Non-Neoplastic Endocrine Disorder"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C90320","relatedName":"CTSK Gene"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12704","relatedName":"Endocrine Gland"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12705","relatedName":"Endocrine System"},{"code":"R101","type":"Disease_Has_Primary_Anatomic_Site","relatedCode":"C12705","relatedName":"Endocrine System"}]}