monogenic disease +
osteochondrodysplasia +

acheiropody
achondrogenesis +
achondroplasia
acrocapitofemoral dysplasia
acromesomelic dysplasia +
acromicric dysplasia
Alport syndrome +
anterior segment dysgenesis +
atelosteogenesis
autosomal genetic disease +
Bartter disease +
basal laminar drusen
Blount's disease
Boomerang dysplasia
brachyolmia
Brugada syndrome +
calvarial doughnut lesions with bone fragility
campomelic dysplasia
Camurati-Engelmann disease
cardiofaciocutaneous syndrome +
cataract +
catecholaminergic polymorphic ventricular tachycardia +
chondrodysplasia Blomstrand type
chondrodysplasia punctata +
chondrodysplasia with joint dislocations gPAPP type
ciliopathy +
cleidocranial dysplasia
cone-rod dystrophy +
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cornelia de Lange syndrome +
corticosteroid-binding globulin deficiency
Desbuquois dysplasia
diaphyseal medullary stenosis with malignant fibrous histiocytoma
diastrophic dysplasia
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 +
fibrochondrogenesis +
gene duplication disease +
gnathodiaphyseal dysplasia
hereditary combined deficiency of vitamin K-dependent clotting factors +
hypertrichotic osteochondrodysplasia Cantu type
hypochondroplasia
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
Kenny-Caffey syndrome +
Kniest dysplasia
lambda 5 deficiency
Leber congenital amaurosis 10
Leber congenital amaurosis 3
Leber congenital amaurosis 7
Leri-Weill dyschondrosteosis
metachondromatosis
metaphyseal dysplasia +
metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
microcephalic osteodysplastic primordial dwarfism type I
microcephalic osteodysplastic primordial dwarfism type II
microcephaly, short stature, and limb abnormalities
midface dysplasia
multiple epiphyseal dysplasia +
multiple epiphyseal dysplasia due to collagen 9 anomaly +
Noonan syndrome +
omodysplasia +
osteogenesis imperfecta +
osteogenesis imperfecta type 14
osteogenesis imperfecta type 6
osteoglophonic dysplasia
otospondylomegaepiphyseal dysplasia, autosomal dominant
otospondylomegaepiphyseal dysplasia, autosomal recessive
parastremmatic dwarfism
posterior polymorphous corneal dystrophy 3
postural orthostatic tachycardia syndrome
primary congenital glaucoma +
progressive pseudorheumatoid arthropathy of childhood
pseudoachondroplasia
pycnodysostosis
Ritscher-Schinzel syndrome +
schizophrenia 13
schizophrenia 14
schizophrenia 16
schizophrenia 18
schizophrenia 9
schneckenbecken dysplasia
SHOX-related short stature
Silverman-Handmaker type dyssegmental dysplasia
spondyloepimetaphyseal dysplasia +
spondyloepiphyseal dysplasia +
spondylometaphyseal dysplasia +
spondyloperipheral dysplasia
thanatophoric dysplasia
Torrance type platyspondylic dysplasia
Weissenbacher-Zweymuller syndrome
X-linked monogenic disease +
Y-linked monogenic disease +