monogenic disease +
RASopathy +

Alport syndrome +
anterior segment dysgenesis +
autosomal genetic disease +
Bartter disease +
basal laminar drusen
Brugada syndrome +
Camurati-Engelmann disease
cataract +
catecholaminergic polymorphic ventricular tachycardia +
chondrodysplasia punctata +
ciliopathy +
cone-rod dystrophy +
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cornelia de Lange syndrome +
corticosteroid-binding globulin deficiency
Costello syndrome
dilated cardiomyopathy 1BB
dilated cardiomyopathy 1EE
dilated cardiomyopathy 1FF
dilated cardiomyopathy 1G
dilated cardiomyopathy 1GG
dilated cardiomyopathy 1H
dilated cardiomyopathy 1I
dilated cardiomyopathy 1J
dilated cardiomyopathy 1K
dilated cardiomyopathy 1L
dilated cardiomyopathy 1M
dilated cardiomyopathy 1O
dilated cardiomyopathy 1P
dilated cardiomyopathy 1Q
dilated cardiomyopathy 1T
dilated cardiomyopathy 1W
dilated cardiomyopathy 1Z
erythrokeratodermia variabilis +
familial hemophagocytic lymphohistiocytosis 5
familial nephrotic syndrome +
Fanconi anemia complementation group F
Fanconi anemia complementation group G
Fanconi anemia complementation group J
Fanconi anemia complementation group N
fetal akinesia deformation sequence syndrome +
gene duplication disease +
hereditary combined deficiency of vitamin K-dependent clotting factors +
hypochondrogenesis
infantile histiocytoid cardiomyopathy
inflammatory bowel disease 1
inflammatory bowel disease 10
inflammatory bowel disease 11
inflammatory bowel disease 12
inflammatory bowel disease 13
inflammatory bowel disease 14
inflammatory bowel disease 15
inflammatory bowel disease 16
inflammatory bowel disease 17
inflammatory bowel disease 18
inflammatory bowel disease 19
inflammatory bowel disease 2
inflammatory bowel disease 20
inflammatory bowel disease 22
inflammatory bowel disease 23
inflammatory bowel disease 24
inflammatory bowel disease 26
inflammatory bowel disease 27
inflammatory bowel disease 4
inflammatory bowel disease 5
inflammatory bowel disease 6
inflammatory bowel disease 7
inflammatory bowel disease 8
inflammatory bowel disease 9
isolated microphthalmia 4
lambda 5 deficiency
Leber congenital amaurosis 10
Leber congenital amaurosis 3
Leber congenital amaurosis 7
Legius syndrome
multiple epiphyseal dysplasia due to collagen 9 anomaly +
neurofibromatosis +
neurofibromatosis-Noonan syndrome
Noonan syndrome +
Noonan syndrome +
Noonan syndrome with multiple lentigines +
Noonan syndrome-like disorder with loose anagen hair +
osteogenesis imperfecta type 14
osteogenesis imperfecta type 6
posterior polymorphous corneal dystrophy 3
postural orthostatic tachycardia syndrome
primary congenital glaucoma +
Ritscher-Schinzel syndrome +
schizophrenia 13
schizophrenia 14
schizophrenia 16
schizophrenia 18
schizophrenia 9
schwannomatosis +
SHOX-related short stature
Watson syndrome
X-linked monogenic disease +
Y-linked monogenic disease +

cardiofaciocutaneous syndrome 1
cardiofaciocutaneous syndrome 2
cardiofaciocutaneous syndrome 3
cardiofaciocutaneous syndrome 4