| | Disease name | Disease category |
CDLS2/DEE85 | H00631 | Cornelia de Lange syndrome | Congenital malformation |
| H00606 | Early infantile epileptic encephalopathy | Nervous system disease |
CDLS3 | H00631 | Cornelia de Lange syndrome | Congenital malformation |
CDLS4 | H00631 | Cornelia de Lange syndrome | Congenital malformation |
MRD47 | H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
HPE13/MKMS | H00267 | Holoprosencephaly | Congenital malformation |
| H02582 | Mullegama-Klein-Martinez syndrome | Congenital malformation |
ATRX/MRXHF1 | H01752 | ATR-X syndrome | Congenital malformation |
| H02583 | X-linked intellectual disability-hypotonic facies syndrome | Congenital malformation |
CDLS1 | H00631 | Cornelia de Lange syndrome | Congenital malformation |
WABS | H00914 | Warsaw breakage syndrome | Congenital malformation |
CDLS6 | H00631 | Cornelia de Lange syndrome | Congenital malformation |
RBS/JHS | H00572 | Roberts-SC phocomelia syndrome | Congenital malformation |
| H02581 | Juberg-Hayward syndrome | Congenital malformation |
CDLS5 | H00631 | Cornelia de Lange syndrome | Congenital malformation |
MRD21 | H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
CAID | H02122 | Chronic atrial and intestinal dysrhythmia | Cardiovascular disease |
NEDLBA | H02632 | PP2A-related neurodevelopmental disorder | Congenital malformation |
MRD36 | H02632 | PP2A-related neurodevelopmental disorder | Congenital malformation |
| H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
SCLC/NSCLC | H00013 | Small cell lung cancer | Cancer |
| H00014 | Non-small cell lung cancer | Cancer |
MRD35 | H02632 | PP2A-related neurodevelopmental disorder | Congenital malformation |
| H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
RTS1 | H01734 | Rothmund-Thomson syndrome | Congenital malformation |
FERBON | H02584 | Ferguson-Bonni neurodevelopmental syndrome | Congenital malformation |
MCPH22 | H00269 | Primary microcephaly | Congenital malformation |
3KS | H02707 | Khan-Khan-Katsanis syndrome | Congenital malformation |
XLID100 | H00480 | X-linked intellectual developmental disorder | Mental and behavioural disorder |
ICF1/FSHD4 | H02308 | Immunodeficiency-centromeric instability-facial anomalies syndrome | Immune system disease |
| H00591 | Facioscapulohumeral muscular dystrophy | Nervous system disease |
MCPH23 | H00269 | Primary microcephaly | Congenital malformation |
MCPH21 | H00269 | Primary microcephaly | Congenital malformation |
MCPH1 | H00269 | Primary microcephaly | Congenital malformation |
OCNDS | H02460 | Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies | Congenital malformation |