All
 C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities D009358 +
 C16.131 Abnormalities D000013 +
 C16.131.077 Abnormalities, Multiple D000015 +
 C16.131.077.130 Basal Cell Nevus Syndrome D001478 
 C16.131.077.133 Beckwith-Wiedemann Syndrome D001506 
 C16.131.077.137 Bloom Syndrome D001816 
 C16.131.077.250 Cockayne Syndrome D003057 
 C16.131.077.262 Cri-du-Chat Syndrome D003410 
 C16.131.077.272 De Lange Syndrome D003635 
 C16.131.077.327 Down Syndrome D004314 
 C16.131.077.350 Ectodermal Dysplasia D004476 +
 C16.131.077.393 Gardner Syndrome D005736 
 C16.131.077.445 Incontinentia Pigmenti D007184 
 C16.131.077.509 Laurence-Moon Syndrome D007849 
 C16.131.077.550 Marfan Syndrome D008382 
 C16.131.077.606 Nail-Patella Syndrome D009261 
 C16.131.077.661 Oculocerebrorenal Syndrome D009800 
 C16.131.077.677 Orofaciodigital Syndromes D009958 
 C16.131.077.730 Prader-Willi Syndrome D011218 
 C16.131.077.745 Prune Belly Syndrome D011535 
 C16.131.077.790 Rubella Syndrome, Congenital D012410 
 C16.131.077.804 Rubinstein-Taybi Syndrome D012415 
 C16.131.077.850 Short Rib-Polydactyly Syndrome D012779 
 C16.131.077.938 Waardenburg's Syndrome D014849 
 C16.131.077.951 Wolfram Syndrome D014929 
 C16.131.077.970 Zellweger Syndrome D015211 
 C16.131.077.410 Holoprosencephaly D016142 
 C16.131.077.740 Proteus Syndrome D016715 
 C16.131.077.065 Alagille Syndrome D016738 
 C16.131.077.703 POEMS Syndrome D016878 
 C16.131.077.095 Angelman Syndrome D017204 
 C16.131.077.860 Smith-Lemli-Opitz Syndrome D019082 
 C16.131.077.208 Branchio-Oto-Renal Syndrome D019280 
 C16.131.077.578 Mobius Syndrome D020331 
 C16.131.077.112 Bardet-Biedl Syndrome D020788 
 C16.131.077.525 LEOPARD Syndrome D044542