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Ontology Browser

Parent Terms Term With Siblings Child Terms
fundus dystrophy +     
monogenic disease +     
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome  
Alacrima +   
Albinism +   
Alport syndrome +   
aniridia +   
anterior segment dysgenesis +   
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
ataxia-oculomotor apraxia type 4  
autosomal genetic disease +   
Bartter disease +   
basal laminar drusen  
Bothnia retinal dystrophy  
Boucher-Neuhauser syndrome  
bradyopsia +   
Brugada syndrome +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Pulverulent 
catecholaminergic polymorphic ventricular tachycardia +   
Cavitary Optic Disc Anomalies  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
chondrodysplasia punctata +   
Choroideremia +   
ciliopathy +   
cone-rod dystrophy +   
A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO)
Congenital Alacrima +   
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  
Congenital Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
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 +   
enhanced S-cone syndrome  
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 +   
Floriform Cataract 
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
fundus albipunctatus  
gene duplication disease +   
Ghose Sachdev Kumar Syndrome 
Glaucoma 1, Open Angle, P  
Graves ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary combined deficiency of vitamin K-dependent clotting factors +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
High Hyperopia  
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  
Joubert syndrome 8  
lambda 5 deficiency 
Leber congenital amaurosis +   
Leber congenital amaurosis 10  
Leber congenital amaurosis 3  
Leber congenital amaurosis 7  
megalocornea +   
Microcephaly and Chorioretinopathy +   
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
Myoectodermal Gonadal Dysgenesis Syndrome  
Noonan 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  
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 Dystrophy of Retinal Pigment Epithelium  
Reticular Pigmentary Retinal Dystrophy of Posterior Pole 
Retinal Aplasia 
Retinal Dysplasia +   
retinal dystrophies primarily involving Bruch's membrane 
Retinal Dystrophy and Microvillus Inclusion Disease  
Retinal Dystrophy and Obesity  
retinal dystrophy in systemic or cerebroretinal lipidoses 
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  
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Ritscher-Schinzel syndrome +   
schizophrenia 13 
schizophrenia 14 
schizophrenia 16 
schizophrenia 18  
schizophrenia 9  
SHOX-related short stature  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
vitreoretinal dystrophy 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
X-Linked Macular Dystrophy +   
X-linked monogenic disease +   
Y-linked monogenic disease +   

Exact Synonyms: CORD ;   CRD ;   cone rod degenerations ;   cone rod retinal dystrophy ;   cone-rod degeneration ;   cone-rod dystrophies ;   cone-rod retinal dystrophies
Narrow Synonyms: autosomal recessive cone rod dystrophy ;   cone-rod dystrophy, dominant ;   cone-rod dystrophy, recessive
Primary IDs: MESH:D000071700
Xrefs: EFO:0020029 ;   GARD:10790 ;   OMIM:PS120970 ;   ORDO:1872
Definition Sources: "DO" "DO"

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