CDLS2 | H00631 | Cornelia de Lange syndrome |
DEE85 | H00606 | Early infantile epileptic encephalopathy |
CDLS3 | H00631 | Cornelia de Lange syndrome |
CDLS4 | H00631 | Cornelia de Lange syndrome |
MRD47 | H00773 | Autosomal dominant intellectual developmental disorder |
HPE13 | H00267 | Holoprosencephaly |
MKMS | H02582 | Mullegama-Klein-Martinez syndrome |
ATRX | H01752 | ATR-X syndrome |
MRXHF1 | H02583 | X-linked intellectual disability-hypotonic facies syndrome |
CDLS1 | H00631 | Cornelia de Lange syndrome |
WABS | H00914 | Warsaw breakage syndrome |
RBS | H00572 | Roberts-SC phocomelia syndrome |
JHS | H02581 | Juberg-Hayward syndrome |
CDLS5 | H00631 | Cornelia de Lange syndrome |
MRD21 | H00773 | Autosomal dominant intellectual developmental disorder |
CAID | H02122 | Chronic atrial and intestinal dysrhythmia |
NEDLBA | H02470 | Neurodevelopmental disorder with structural brain abnormalities |
MRD36 | H00773 | Autosomal dominant intellectual developmental disorder |
SCLC | H00013 | Small cell lung cancer |
NSCLC | H00014 | Non-small cell lung cancer |
MRD35 | H00773 | Autosomal dominant intellectual developmental disorder |
RTS1 | H01734 | Rothmund-Thomson syndrome |
FERBON | H02584 | Ferguson-Bonni neurodevelopmental syndrome |
MCPH22 | H00269 | Primary microcephaly |
3KS | H02461 | Neurodevelopmental disorder with microcephaly |
XLID100 | H00480 | X-linked intellectual developmental disorder |
ICF1 | H02308 | Immunodeficiency-centromeric instability-facial anomalies syndrome |
FSHD4 | H00591 | Facioscapulohumeral muscular dystrophy |
MCPH23 | H00269 | Primary microcephaly |
MCPH21 | H00269 | Primary microcephaly |
MCPH1 | H00269 | Primary microcephaly |
OCNDS | H02460 | Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies |