|
|
ablepharon macrostomia syndrome
Ankyloblepharon Filiforme Adnatum
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
anterior segment dysgenesis + An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)
Asymmetric Short Stature Syndrome
autosomal genetic disease +
Axenfeld-Rieger syndrome +
Basel-Vanagaite-Smirin-Yosef syndrome
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Brittle Cornea Syndrome +
Camurati-Engelmann disease +
cardiofaciocutaneous syndrome +
catecholaminergic polymorphic ventricular tachycardia +
Chemke Oliver Mallek Syndrome
chondrodysplasia punctata +
chromosome 6pter-p24 deletion syndrome
Cole-Carpenter syndrome +
Colobomatous Macrophthalmia with Microcornea
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +
Cornelia de Lange syndrome +
corticosteroid-binding globulin deficiency
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
Craniosynostosis with Ocular Abnormalities and Hallucal Defects
Developmental Delay, Language Impairment, and Ocular Abnormalities
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
Duane-radial ray syndrome
Dwarfism Stiff Joint Ocular Abnormalities
erythrokeratodermia variabilis +
exudative vitreoretinopathy +
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 +
Fronto-Facio-Nasal Dysplasia
gene duplication disease +
Goniodysgenesis-Mental Retardation-Short Stature Syndrome
hereditary combined deficiency of vitamin K-dependent clotting factors +
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
intellectual developmental disorder with ocular anomalies and distinctive facial features
iridogoniodysgenesis syndrome +
isolated microphthalmia 4
Leber congenital amaurosis 10
Leber congenital amaurosis 3
Leber congenital amaurosis 7
Microcornea, Glaucoma, and Absent Frontal Sinuses
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
multiple epiphyseal dysplasia due to collagen 9 anomaly +
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND
Nephrotic Syndrome with Ocular Anomalies
neurodevelopmental disorder with eye movement abnormalities and ataxia
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE
oblique facial clefting 1
Oculoauriculofrontonasal Syndrome
Oculocerebrocutaneous Syndrome
oculodentodigital dysplasia +
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
Oculopalatocerebral Syndrome
Oculorenocerebellar Syndrome
osteogenesis imperfecta type 14
osteogenesis imperfecta type 6
Pena Shokeir Syndrome Type 2
Persistence of Pupillary Membrane
persistent hyperplastic primary vitreous +
popliteal pterygium syndrome +
posterior polymorphous corneal dystrophy 3
postural orthostatic tachycardia syndrome
Prepapillary Vascular Loops
primary congenital glaucoma +
Ritscher-Schinzel syndrome +
Rozin Hertz Goodman Syndrome
Sclerocornea, Autosomal Dominant
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
SHOX-related short stature
torsion dystonia with onset in infancy
X-linked monogenic disease +
Y-linked monogenic disease +
|
|
