| | Disease name | Disease category |
SCDO1 | H00517 | Spondylocostal dysostosis | Congenital malformation |
AOS6 | H01413 | Adams-Oliver syndrome | Congenital malformation |
TOF/ALGS1 | H00549 | Tetralogy of Fallot | Congenital malformation |
| H00551 | Alagille syndrome | Congenital malformation |
AOVD1/AOS5 | H00554 | Aortic valve disease | Congenital malformation |
| H01413 | Adams-Oliver syndrome | Congenital malformation |
HJCYS/ALGS2 | H00623 | Hajdu-Cheney syndrome | Musculoskeletal disease |
| H00551 | Alagille syndrome | Congenital malformation |
IFM2/CADASIL/LMS | H01910 | Infantile myofibromatosis | Neoplasm |
| H00536 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) | Congenital malformation |
| H01893 | Lateral meningocele syndrome | Congenital malformation |
AOS3 | H01413 | Adams-Oliver syndrome | Congenital malformation |
HPV | H00030 | Cervical cancer | Cancer |
NISBD1 | H02467 | Neonatal inflammatory skin and bowel disease | Immune system disease |
ACNINV1 | H00681 | Acne inversa | Skin disease |
ACNINV2 | H00681 | Acne inversa | Skin disease |
ACNINV3 | H00681 | Acne inversa | Skin disease |
LVNC7 | H01216 | Left ventricular noncompaction | Cardiovascular disease |
SCDO4 | H00517 | Spondylocostal dysostosis | Congenital malformation |
SCDO3 | H00517 | Spondylocostal dysostosis | Congenital malformation |
SCDO5 | H00517 | Spondylocostal dysostosis | Congenital malformation |
SCDO2 | H00517 | Spondylocostal dysostosis | Congenital malformation |
SCDO6 | H00517 | Spondylocostal dysostosis | Congenital malformation |