| | Disease name | Disease category |
| DGLBC/EC/OC/BCDS1 | H00018 | Gastric cancer | Cancer |
| H00026 | Endometrial cancer | Cancer |
| H00027 | Ovarian cancer | Cancer |
| H02474 | Blepharocheilodontic syndrome | Congenital malformation |
| ARVD14/ADHD8/ACOGS | H00293 | Arrhythmogenic right ventricular cardiomyopathy | Cardiovascular disease |
| H01895 | Attention deficit hyperactivity disorder (ADHD) | Mental and behavioural disorder |
| H02508 | Agenesis of corpus callosum, cardiac, ocular, and genital syndrome | Congenital malformation |
| EEMS/HJMD | H00639 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy | Congenital malformation |
| H00785 | Congenital hypotrichosis with juvenile macular dystrophy | Congenital malformation |
| TBHS2/ESWS | H02853 | Teebi hypertelorism syndrome | Congenital malformation |
| H02926 | Elsahy-Waters syndrome | Congenital malformation |
| MRD3 | H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
| BCDS2 | H02474 | Blepharocheilodontic syndrome | Congenital malformation |
| OC/HCC/PTR/MDB | H00027 | Ovarian cancer | Cancer |
| H00048 | Hepatocellular carcinoma | Cancer |
| H00947 | Pilomatricoma | Neoplasm |
| H01667 | Medulloblastoma | Cancer |
| EVR7/MRD19 | H00589 | Familial exudative vitreoretinopathy | Nervous system disease |
| H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
| MDPT2 | H01890 | Pattern dystrophies of the retinal pigment epithelium | Nervous system disease |
| CDCBM9 | H01881 | Complex cortical dysplasia with other brain malformations | Congenital malformation |
| ARVD13 | H00293 | Arrhythmogenic right ventricular cardiomyopathy | Cardiovascular disease |
| T2DM | H00409 | Type 2 diabetes mellitus | Endocrine and metabolic disease |
| ECTD17 | H00651 | Hypohidrotic ectodermal dysplasia | Congenital malformation |
| RSTS1/MKHK1 | H00504 | Rubinstein-Taybi syndrome | Congenital malformation |
| H02650 | Menke-Hennekam syndrome | Congenital malformation |
| CRC/RSTS2/MKHK2 | H00020 | Colorectal cancer | Cancer |
| H00504 | Rubinstein-Taybi syndrome | Congenital malformation |
| H02650 | Menke-Hennekam syndrome | Congenital malformation |
| BNS | H02716 | Becker nevus syndrome | Congenital malformation |
| BRWS1/DDS1 | H02023 | Baraitser-Winter syndrome | Congenital malformation |
| H01255 | Juvenile-onset dystonia | Congenital malformation |
| BRWS2/DFNA20/26 | H02023 | Baraitser-Winter syndrome | Congenital malformation |
| H00604 | Deafness, autosomal dominant | Nervous system disease |
| IMD110 | H00093 | Combined immunodeficiency | Primary immunodeficiency |
| COB | H01114 | Ocular coloboma | Congenital malformation |
| SCRA | H01180 | Sveinsson chorioretinal atrophy (SCRA) | Nervous system disease |
| ARVD11 | H00293 | Arrhythmogenic right ventricular cardiomyopathy | Cardiovascular disease |
| HYPTSV | H00782 | Hypotrichosis and recurrent skin vesicles | Skin disease |
| PPKS1/EPKHE | H00717 | Striate palmoplantar keratoderma | Congenital malformation |
| H03008 | Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE | Congenital malformation |
| ARVD10/CMD1BB | H00293 | Arrhythmogenic right ventricular cardiomyopathy | Cardiovascular disease |
| H00294 | Dilated cardiomyopathy | Cardiovascular disease |
| ABOLM | H02648 | Acantholytic blistering of the oral and laryngeal mucosa | Digestive system disease |
| LAH1 | H00784 | Localized autosomal recessive hypotrichosis | Skin disease |
| EDSFS | H00644 | Ectodermal dysplasia/skin fragility syndrome | Congenital malformation |
| ARVD9 | H00293 | Arrhythmogenic right ventricular cardiomyopathy | Cardiovascular disease |
| ARVD12/NXD | H00293 | Arrhythmogenic right ventricular cardiomyopathy | Cardiovascular disease |
| H00669 | Naxos disease | Congenital malformation |
| ARVD8/PPKS2/DCWHKTA/EBLA/DCWHK | H00293 | Arrhythmogenic right ventricular cardiomyopathy | Cardiovascular disease |
| H00717 | Striate palmoplantar keratoderma | Congenital malformation |
| H00893 | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | Congenital malformation |
| H01737 | Epidermolysis bullosa | Congenital malformation |
| H02094 | Carvajal syndrome | Congenital malformation |
| NSLH1 | H02191 | Noonan-like syndrome with loose anagen hair | Congenital malformation |
| NEDGS | H03041 | Neurodevelopmental disorder with poor growth and skeletal anomalies | Congenital malformation |
| IMD72 | H02526 | Disorders of adaptive immunity | Immune system disease |
| DEE65 | H00606 | Early infantile epileptic encephalopathy | Nervous system disease |
| NEDALVS | H03010 | Neurodevelopmental disorder with absent language and variable seizures | Congenital malformation |
| IMD113 | H01725 | Primary immunodeficiency disease | Immune system disease |
| DEVLO | H03042 | Developmental delay, language impairment, and ocular abnormalities | Congenital malformation |
| IMD71 | H00093 | Combined immunodeficiency | Primary immunodeficiency |
| DEE9 | H00606 | Early infantile epileptic encephalopathy | Nervous system disease |
| DEE19/EIG13/ECA4/EJM5 | H00606 | Early infantile epileptic encephalopathy | Nervous system disease |
| H00808 | Idiopathic generalized epilepsies | Nervous system disease |
| H02215 | Childhood absence epilepsy | Nervous system disease |
| H02217 | Juvenile myoclonic epilepsy | Nervous system disease |
| DFNB12/USH1D/1F/PITA5 | H00605 | Deafness, autosomal recessive | Nervous system disease |
| H00779 | Usher syndrome | Nervous system disease |
| H01102 | Pituitary adenomas | Neoplasm |
| DFNB18A/USH1C | H00605 | Deafness, autosomal recessive | Nervous system disease |
| H00779 | Usher syndrome | Nervous system disease |
| USH1G | H00779 | Usher syndrome | Nervous system disease |
| DFNA11/DFNB2/USH1B | H00604 | Deafness, autosomal dominant | Nervous system disease |
| H00605 | Deafness, autosomal recessive | Nervous system disease |
| H00779 | Usher syndrome | Nervous system disease |
| DFNB23/USH1D/1F | H00605 | Deafness, autosomal recessive | Nervous system disease |
| H00779 | Usher syndrome | Nervous system disease |
| DFNA36/DFNB7/11 | H00604 | Deafness, autosomal dominant | Nervous system disease |
| H00605 | Deafness, autosomal recessive | Nervous system disease |
| DFNB67 | H00605 | Deafness, autosomal recessive | Nervous system disease |
| DFNB6 | H00605 | Deafness, autosomal recessive | Nervous system disease |
| DFNB48 | H00605 | Deafness, autosomal recessive | Nervous system disease |
| VMLDS1/MVP2 | H01393 | Van Maldergem syndrome | Congenital malformation |
| H01868 | Mitral valve prolapse | Cardiovascular disease |
| VMLDS2/HKLLS2 | H01393 | Van Maldergem syndrome | Congenital malformation |
| H02169 | Hennekam lymphangiectasia-lymphedema syndrome | Congenital malformation |
| DRPLA | H00060 | Dentatorubropallidoluysian atrophy (DRPLA) | Neurodegenerative disease |
| CHEDDA | H03011 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | Congenital malformation |
| HYC2 | H01677 | Congenital hydrocephalus | Congenital malformation |
| LMPHM9/YNS | H00535 | Lymphatic malformation | Congenital malformation |
| H03009 | Yellow nail syndrome | Skin disease |
| NDNC1 | H01307 | Nonsyndromic congenital nail disorder | Skin disease |
| DRS2 | H00485 | Robinow syndrome | Congenital malformation |
| DRS3 | H00485 | Robinow syndrome | Congenital malformation |
| EDFAOB | H02456 | Ectodermal dysplasia | Congenital malformation |
| MRD48 | H00773 | Autosomal dominant intellectual developmental disorder | Mental and behavioural disorder |
| IMD73A/C | H01725 | Primary immunodeficiency disease | Immune system disease |
| IMD73B | H01725 | Primary immunodeficiency disease | Immune system disease |
| NEDBAF | H03043 | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | Congenital malformation |