monogenic disease Cornelia de Lange syndrome disease_ontology UMLS_CUI:C0270972 GARD:10109 Xref MGI. OMIM mapping confirmed by DO. [SN]. MESH:D003635 ORDO:199 A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. ICD10CM:Q87.19 OMIM:PS122470 Brachmann de Lange syndrome SNOMEDCT_US_2020_03_01:40354009 DOID:11725 NCI:C75016 De Lange syndrome syndrome