disease arises from structure disease arises from alteration in structure 16p12.1 (Human) syndromic disease chromosome 16p12.1 deletion syndrome, 520kb https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/chromosome_16p121_deletion_syndrome https://www.malacards.org/card/chromosome_16p121_deletion_syndrome_520_kb OMIM:136570 chromosome 16p12.1 deletion syndrome GARD:0024567 Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) MONDO:0007631 DOID:0060399 chromosome 16p12.1 deletion syndrome, type 520kb NCIT:C129875 MEDGEN:460626 MESH:C565001 A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects. UMLS:C3149276 DECIPHER:92 partial deletion of the short arm of chromosome 16