| | Disease name | Disease category |
| BMND16/OI15 | H01593 | Osteoporosis | Musculoskeletal disease |
| H00506 | Osteogenesis imperfecta | Congenital malformation |
| TETAMS1 | H00636 | Tetra-amelia syndrome | Congenital malformation |
| Fuhrmann syndrome/AARRS | H00846 | Fuhrmann syndrome | Congenital malformation |
| H00847 | Al-Awadi/Raas-Rothschild syndrome | Congenital malformation |
| STHAG4/OODD/SSPS | H00625 | Tooth agenesis | Congenital malformation |
| H00646 | Odontoonychodermal dysplasia | Congenital malformation |
| H00781 | Schopf-Schulz-Passarge syndrome | Congenital malformation |
| STHAG8/SHFM6 | H00625 | Tooth agenesis | Congenital malformation |
| H00471 | Split-hand/foot malformation | Congenital malformation |
| OMOD2 | H02154 | Omodysplasia | Congenital malformation |
| MCOPCB11 | H01027 | Microphthalmia | Congenital malformation |
| NDNC1 | H01307 | Nonsyndromic congenital nail disorder | Skin disease |
| BMND1/VBCH2/OPTA1/OPPG/EVR4 | H01593 | Osteoporosis | Musculoskeletal disease |
| H01774 | Hyperostosis corticalis generalisata | Musculoskeletal disease |
| H00436 | Osteopetrosis | Congenital malformation |
| H00451 | Osteoporosis-pseudoglioma syndrome | Congenital malformation |
| H00589 | Familial exudative vitreoretinopathy | Nervous system disease |
| STHAG7/EVR8 | H00625 | Tooth agenesis | Congenital malformation |
| H00589 | Familial exudative vitreoretinopathy | Nervous system disease |
| ODCRCS | H00857 | Oligodontia-colorectal cancer syndrome | Congenital malformation |
| HCC | H00048 | Hepatocellular carcinoma | Cancer |
| CRC/GC | H00020 | Colorectal cancer | Cancer |
| H00018 | Gastric cancer | Cancer |
| CRC/HCC/EC | H00020 | Colorectal cancer | Cancer |
| H00048 | Hepatocellular carcinoma | Cancer |
| H00026 | Endometrial cancer | Cancer |
| ECTD17 | H00651 | Hypohidrotic ectodermal dysplasia | Congenital malformation |
| KSHV | H00041 | Kaposi sarcoma | Cancer |
| Salmonella | H00113 | Salmonellosis | Bacterial infectious disease |
| FDH | H00949 | Focal dermal hypoplasia | Congenital malformation |
| PYL | H00479 | Metaphyseal dysplasias | Congenital malformation |
| SOST1/CDD | H00486 | Sclerosteosis | Congenital malformation |
| H02609 | Craniodiaphyseal dysplasia | Musculoskeletal disease |
| SOST2/CLSS | H00486 | Sclerosteosis | Congenital malformation |
| H00853 | Cenani-Lenz syndactyly syndrome | Congenital malformation |
| TETAMS2 | H00636 | Tetra-amelia syndrome | Congenital malformation |
| NDNC4 | H01307 | Nonsyndromic congenital nail disorder | Skin disease |
| BMND17 | H01593 | Osteoporosis | Musculoskeletal disease |
| DRS1 | H00485 | Robinow syndrome | Congenital malformation |
| RRS1/BDB1 | H00485 | Robinow syndrome | Congenital malformation |
| H00482 | Brachydactyly | Congenital malformation |
| DRS2 | H00485 | Robinow syndrome | Congenital malformation |
| DRS3 | H00485 | Robinow syndrome | Congenital malformation |
| RRS2 | H00485 | Robinow syndrome | Congenital malformation |