| | Disease name | Disease category |
HH6 | H00255 | Hypogonadotropic hypogonadism | Endocrine and metabolic disease |
HH20 | H00255 | Hypogonadotropic hypogonadism | Endocrine and metabolic disease |
IMD125 | H01725 | Primary immunodeficiency disease | Immune system disease |
HH2 | H00255 | Hypogonadotropic hypogonadism | Endocrine and metabolic disease |
Pfeiffer/JWS | H01756 | Pfeiffer syndrome | Congenital malformation |
| H01988 | Jackson-Weiss syndrome | Congenital malformation |
Pfeiffer/Apert/CS/JWS/BSTVS/SCS/ABS | H01756 | Pfeiffer syndrome | Congenital malformation |
| H01755 | Apert syndrome | Congenital malformation |
| H01754 | Crouzon syndrome | Congenital malformation |
| H01988 | Jackson-Weiss syndrome | Congenital malformation |
| H01989 | Beare-Stevenson syndrome | Congenital malformation |
| H01991 | Saethre-Chotzen syndrome | Congenital malformation |
| H01753 | Antley-Bixler syndrome | Congenital malformation |
CS/Muenke | H01754 | Crouzon syndrome | Congenital malformation |
| H01990 | Muenke syndrome | Congenital malformation |
PGS/MTC | H01510 | Malignant paraganglioma | Cancer |
| H01592 | Medullary thyroid cancer | Cancer |
HSCR1 | H00910 | Hirschsprung disease | Congenital malformation |
NS4/GINGF1 | H01738 | Noonan syndrome | Congenital malformation |
| H01250 | Hereditary gingival fibromatosis | Digestive system disease |
NS9 | H01738 | Noonan syndrome | Congenital malformation |
CS | H01747 | Costello syndrome | Congenital malformation |
NS3/JMML/MTC/CFC2 | H01738 | Noonan syndrome | Congenital malformation |
| H02541 | Juvenile myelomonocytic leukemia | Cancer |
| H01592 | Medullary thyroid cancer | Cancer |
| H01745 | Cardiofaciocutaneous syndrome | Congenital malformation |
NS11 | H01738 | Noonan syndrome | Congenital malformation |
NS6/JMML | H01738 | Noonan syndrome | Congenital malformation |
| H02541 | Juvenile myelomonocytic leukemia | Cancer |
NS12 | H01738 | Noonan syndrome | Congenital malformation |
NS7/CFC1/LPRD3 | H01738 | Noonan syndrome | Congenital malformation |
| H01745 | Cardiofaciocutaneous syndrome | Congenital malformation |
| H01984 | Leopard syndrome | Congenital malformation |
NS5/LPRD2 | H01738 | Noonan syndrome | Congenital malformation |
| H01984 | Leopard syndrome | Congenital malformation |
CFC3/MEL | H01745 | Cardiofaciocutaneous syndrome | Congenital malformation |
| H02631 | Melorheostosis | Musculoskeletal disease |
CFC4 | H01745 | Cardiofaciocutaneous syndrome | Congenital malformation |
NS13 | H01738 | Noonan syndrome | Congenital malformation |
JMML/CBL | H02541 | Juvenile myelomonocytic leukemia | Cancer |
| H02190 | CBL syndrome | Congenital malformation |
NS1/JMML/LPRD1 | H01738 | Noonan syndrome | Congenital malformation |
| H02541 | Juvenile myelomonocytic leukemia | Cancer |
| H01984 | Leopard syndrome | Congenital malformation |
NS10 | H01738 | Noonan syndrome | Congenital malformation |
NS8 | H01738 | Noonan syndrome | Congenital malformation |
LS | H01986 | Legius syndrome | Congenital malformation |
JMML/NF1/PGS/NFNS/WTSN | H02541 | Juvenile myelomonocytic leukemia | Cancer |
| H01437 | Neurofibromatosis type 1 | Congenital malformation |
| H01510 | Malignant paraganglioma | Cancer |
| H02189 | Neurofibromatosis-Noonan syndrome | Congenital malformation |
| H02188 | Watson syndrome | Congenital malformation |
CMAVM1/PWS | H02043 | Capillary malformation-arteriovenous malformation | Congenital malformation |
| H00532 | Parkes Weber syndrome | Congenital malformation |
NSLH1 | H02191 | Noonan-like syndrome with loose anagen hair | Congenital malformation |
NSLH2 | H02191 | Noonan-like syndrome with loose anagen hair | Congenital malformation |
HH19 | H00255 | Hypogonadotropic hypogonadism | Endocrine and metabolic disease |
CLS | H00574 | Coffin-Lowry syndrome | Congenital malformation |
PGS | H01510 | Malignant paraganglioma | Cancer |
SFMMP | H00471 | Split-hand/foot malformation | Congenital malformation |