monogenic disease +

Alport syndrome +
anterior segment dysgenesis +
Bartter disease +
basal laminar drusen
Brugada syndrome +
Camurati-Engelmann disease
cardiofaciocutaneous syndrome +
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
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
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 +

Aicardi-Goutieres syndrome
autosomal dominant disease +
autosomal hemophilia A
autosomal recessive disease +
blepharophimosis, ptosis, and epicanthus inversus syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
chromosome 1q41-q42 deletion syndrome
combined oxidative phosphorylation deficiency 55
congenital nystagmus 1
distal arthrogryposis type 1C
dopamine transporter deficiency syndrome +
exudative vitreoretinopathy 4
factor XI deficiency
familial adenomatous polyposis +
familial Mediterranean fever
focal segmental glomerulosclerosis 3
Gillespie syndrome
glucose transporter type 1 deficiency syndrome +
hereditary desmoid disease
hereditary spastic paraplegia 30
hypophosphatasia +
McCune Albright syndrome
neurodevelopmental disorder with hypotonia and speech delay
retinitis pigmentosa 86
Robinow syndrome +
septooptic dysplasia
Sotos syndrome +
spondylocostal dysostosis 5
syndromic microphthalmia 12
syndromic microphthalmia 14
syndromic microphthalmia 8
thrombophilia due to thrombomodulin defect
tubulinopathy
Weill-Marchesani syndrome