monogenic disease +
lens disease +

Alport syndrome +
anterior segment dysgenesis +
autosomal genetic disease +
Bartter disease +
basal laminar drusen
Brugada syndrome +
Camurati-Engelmann disease
cardiofaciocutaneous syndrome +
catecholaminergic polymorphic ventricular tachycardia +
chondrodysplasia punctata +
ciliopathy +
cone-rod dystrophy +
congenital aphakia
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cornelia de Lange syndrome +
corticosteroid-binding globulin deficiency
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 ectopia lentis +
isolated microphthalmia 4
lambda 5 deficiency
Leber congenital amaurosis 10
Leber congenital amaurosis 3
Leber congenital amaurosis 7
lens subluxation
multiple epiphyseal dysplasia due to collagen 9 anomaly +
Noonan syndrome +
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
SHOX-related short stature
X-linked monogenic disease +
Y-linked monogenic disease +

cataract 10 multiple types
cataract 11 multiple types
cataract 12 multiple types
cataract 13 with adult i phenotype
cataract 14 multiple types
cataract 15 multiple types
cataract 16 multiple types
cataract 17 multiple types
cataract 18
cataract 19 multiple types
cataract 1 multiple types
cataract 20 multiple types
cataract 21 multiple types
cataract 22 multiple types
cataract 23
cataract 24
cataract 25
cataract 26 multiple types
cataract 27
cataract 28
cataract 29
cataract 2 multiple types
cataract 30
cataract 31 multiple types
cataract 32 multiple types
cataract 33
cataract 34 multiple types
cataract 35
cataract 36
cataract 37
cataract 38
cataract 39 multiple types
cataract 3 multiple types
cataract 40
cataract 41
cataract 42
cataract 43
cataract 44
cataract 45
cataract 46 juvenile-onset
cataract 47
cataract 48
cataract 4 multiple types
cataract 5 multiple types
cataract 6 multiple types
cataract 7
cataract 8 multiple types
cataract 9 multiple types
diabetic cataract
myotonic cataract
posterior polar cataract
senile cataract +
tetanic cataract