| | Disease name | Disease category |
HPE3/MCOPCB5 | H00267 | Holoprosencephaly | Congenital malformation |
| H01027 | Microphthalmia | Congenital malformation |
BDA1/ACFD | H00482 | Brachydactyly | Congenital malformation |
| H00675 | Acrocapitofemoral dysplasia | Congenital malformation |
BCC1 | H00039 | Basal cell carcinoma | Cancer |
HPE7/BCNS | H00267 | Holoprosencephaly | Congenital malformation |
| H00895 | Basal cell nevus syndrome | Congenital malformation |
EVC/WAD | H00503 | Ellis-van Creveld syndrome | Congenital malformation |
| H02158 | Weyers acrofacial dysostosis | Congenital malformation |
BCNS/JBTS32 | H00895 | Basal cell nevus syndrome | Congenital malformation |
| H00530 | Joubert syndrome and related disorders | Congenital malformation |
JBTS12/ACLS/HLS2 | H00530 | Joubert syndrome and related disorders | Congenital malformation |
| H00263 | Acrocallosal syndrome | Congenital malformation |
| H01265 | Hydrolethalus syndrome | Congenital malformation |
PAPA8/PPD1 | H01852 | Postaxial polydactyly | Congenital malformation |
| H02332 | Preaxial polydactyly | Congenital malformation |
HPE9 | H00267 | Holoprosencephaly | Congenital malformation |
GCPS/PAPA1/PAPB/PPD4/PHS | H02161 | Greig cephalopolysyndactyly syndrome | Congenital malformation |
| H01852 | Postaxial polydactyly | Congenital malformation |
| H02332 | Preaxial polydactyly | Congenital malformation |
| H00502 | Pallister-Hall syndrome | Congenital malformation |
NNMS | H02479 | Nivelon-Nivelon-Mabille syndrome | Congenital malformation |
HPE11 | H00267 | Holoprosencephaly | Congenital malformation |
DBS | H00886 | Donnai-Barrow syndrome | Congenital malformation |