| | Disease name | Disease category |
WVS | H01751 | Weaver syndrome | Congenital malformation |
IMMAS | H02522 | Imagawa-Matsumoto syndrome | Congenital malformation |
COGIS | H02477 | Cohen-Gibson syndrome | Congenital malformation |
HADDTS | H02619 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | Congenital malformation |
BRYLIB1 | H02617 | Bryant-Li-Bhoj neurodevelopmental syndrome | Congenital malformation |
BRYLIB2 | H02617 | Bryant-Li-Bhoj neurodevelopmental syndrome | Congenital malformation |
DIDDF | H02618 | Developmental delay with variable intellectual disability and dysmorphic facies | Congenital malformation |
TPFS | H02611 | Turnpenny-Fry syndrome | Congenital malformation |
LUSYAM | H02587 | Luo-Schoch-Yamamoto syndrome | Congenital malformation |
MCPH11 | H00269 | Primary microcephaly | Congenital malformation |
KURIS/TPDS1 | H02623 | Kury-Isidor syndrome | Congenital malformation |
| H02624 | Tumor predisposition syndrome | Cancer |
MDS/BOPS | H01481 | Myelodysplastic syndrome | Hematologic disease |
| H02047 | Bohring-Opitz syndrome | Congenital malformation |
SHAPNS | H02803 | Neurodevelopmental disorder with histone modification defect | Congenital malformation |
BRPS | H02382 | Bainbridge-Ropers syndrome | Congenital malformation |
XLID106 | H00480 | X-linked intellectual developmental disorder | Mental and behavioural disorder |
XLID3/MAHCX | H00480 | X-linked intellectual developmental disorder | Mental and behavioural disorder |
| H02222 | Methylmalonic acidemia and hyperhomocysteinemia, cblX type | Inherited metabolic disorder |
GADEVS | H02490 | Gabriele-de Vries syndrome | Mental and behavioural disorder |
MRD1 | H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
MCOPS2 | H02170 | Microphthalmia, syndromic | Congenital malformation |
SHUVER | H02622 | Shukla-Vernon syndrome | Congenital malformation |
HAFOUS | H02528 | Hao-Fountain syndrome | Congenital malformation |
KLEFS1 | H00907 | Kleefstra syndrome | Congenital malformation |
PH | H01510 | Malignant paraganglioma | Cancer |
OCNDS | H02460 | Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies | Congenital malformation |
POBINDS | H02635 | Poirier-Bienvenu neurodevelopmental syndrome | Congenital malformation |
MRD26 | H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
RSTS2/MKHK2 | H00504 | Rubinstein-Taybi syndrome | Congenital malformation |
| H02650 | Menke-Hennekam syndrome | Congenital malformation |