|
|
anterior segment dysgenesis +
ataxia with oculomotor apraxia type 3
Ataxia-Microcephaly-Cataract Syndrome
ataxia-oculomotor apraxia type 4
autosomal genetic disease +
Bothnia retinal dystrophy
Boucher-Neuhauser syndrome
Camurati-Engelmann disease +
cardiofaciocutaneous syndrome +
cataract 17 multiple types
cataract 22 multiple types
catecholaminergic polymorphic ventricular tachycardia +
Cavitary Optic Disc Anomalies
Cholestasis with Gallstone, Ataxia, and Visual Disturbance
chondrodysplasia punctata +
cone-rod dystrophy + A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO)
congenital fibrosis of the extraocular muscles 1
congenital fibrosis of the extraocular muscles 2
congenital fibrosis of the extraocular muscles 3A
congenital fibrosis of the extraocular muscles 3C
congenital fibrosis of the extraocular muscles 5
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
dominant pericentral pigmentary retinopathy
Duane retraction syndrome +
dystrophies primarily involving the retinal pigment epithelium +
erythrokeratodermia variabilis +
exudative vitreoretinopathy +
familial benign fleck retina
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 +
Foveal Hypoplasia with Anterior Segment Anomalies
gene duplication disease +
Ghose Sachdev Kumar Syndrome
Glaucoma 1, Open Angle, P
Grouped Pigmentation of the Macula
hereditary combined deficiency of vitamin K-dependent clotting factors +
hereditary night blindness +
Hereditary Optic Atrophies +
hereditary retinal dystrophy +
Histiocytic Dermatoarthritis
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
Iris Pigment Epithelium Anomalies
isolated microphthalmia 4
Leber congenital amaurosis +
Leber congenital amaurosis 10
Leber congenital amaurosis 3
Leber congenital amaurosis 7
Microcephaly and Chorioretinopathy +
multiple epiphyseal dysplasia due to collagen 9 anomaly +
Myoectodermal Gonadal Dysgenesis Syndrome
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects
Ophthalmomandibulomelic Dysplasia
osteogenesis imperfecta type 14
osteogenesis imperfecta type 6
Peripapillary Atrophy, Beta Type
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
pigmented paravenous chorioretinal atrophy
PORETTI-BOLTSHAUSER SYNDROME
posterior polymorphous corneal dystrophy 3
postural orthostatic tachycardia syndrome
primary congenital glaucoma +
Pseudoinflammatory Fundus Dystrophy, Finnish Type
Radial Drusen, Autosomal Dominant
renal hypomagnesemia 5 with ocular involvement
Reticular Pigmentary Retinal Dystrophy of Posterior Pole
retinal dystrophies primarily involving Bruch's membrane
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
Retinal Dystrophy and Microvillus Inclusion Disease
Retinal Dystrophy and Obesity
retinal dystrophy in systemic or cerebroretinal lipidoses
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
Retinal Dystrophy with or without Macular Staphyloma
Retinal Dystrophy, Early Onset Severe +
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome
Retinohepatoendocrinologic Syndrome
Rhegmatogenous Retinal Detachment, Autosomal Dominant
Ritscher-Schinzel syndrome +
SHOX-related short stature
Spondyloocular Syndrome, Autosomal Recessive
Stickler Syndrome, Type I, Nonsyndromic Ocular
vitelliform macular dystrophy +
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Walker-Warburg syndrome +
Weill-Marchesani syndrome +
X-Linked Macular Dystrophy +
X-linked monogenic disease +
Y-linked monogenic disease +
|
|
