| | 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 | H00625 | Tooth agenesis | Congenital malformation |
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 |
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 |