monogenic disease syndrome chondrodysplasia punctata ORDO:93442 MESH:D002806 disease_ontology DOID:2581 OMIM:215105 SNOMEDCT_US_2020_03_01:205486004 UMLS_CUI:C0008445 DeObs MGI. ICD10CM:Q77.3 GARD:8542 A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. Chondrodysplasia punctata congenita NCI:C84632 MESH:D002806