{"code":"C118697","name":"Hypochondroplasia","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Hypochondroplasia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Hypochondroplasia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Hypochondroplasia","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NICHD"},{"name":"Hypochondroplasia","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A condition phenotypically similar to, but milder than, achondroplasia that is often caused by mutations in the FGFR3 gene.","code":"P325","type":"ALT_DEFINITION","source":"NICHD"},{"definition":"An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P322","type":"Contributing_Source","value":"NICHD"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0410529"}],"parents":[{"code":"C84978","name":"Osteochondrodysplasia"}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}