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Term:
Bietti crystalline corneoretinal dystrophy (DOID:0050664)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (1) Pig: (2)
Parent Terms Term With Siblings Child Terms
corneal dystrophy +     
retinal disease +     
Al Gazali Sabrinathan Nair Syndrome 
angioid streaks +  
Aniridia 1  
Ausems Wittebol-Post Hennekam Syndrome 
band keratopathy 
bestrophinopathy  
Bietti crystalline corneoretinal dystrophy  
A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. (DO)
Bothnia retinal dystrophy  
Brachymesomelia Renal Syndrome 
bradyopsia  
Central Serous Chorioretinopathy  
Chorioretinal Atrophy, Progressive Bifocal 
chorioretinal scar +  
Choroideremia +   
cone dystrophy +   
Congenital Corneal Opacities, Cornea Guttata, and Corectopia 
Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia 
congenital stromal corneal dystrophy  
Corneal Cerebellar Syndrome 
Corneal Dystrophy and Perceptive Deafness  
corneal endothelial dystrophy +   
Corneodermatoosseous Syndrome 
Dermochondrocorneal Dystrophy of Fran├žois 
Edict Syndrome  
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
enhanced S-cone syndrome  
epithelial and subepithelial dystrophy +   
Epithelial Recurrent Erosion Dystrophy  
epithelial-stromal TGFBI dystrophy +   
Fleck corneal dystrophy  
Fleck Retina, Familial Benign  
FLOTCH Syndrome 
fundus albipunctatus  
fundus dystrophy +   
Grouped Pigmentation of the Macula 
hereditary spastic paraplegia 15  
Hyaloideoretinal Degeneration of Wagner  
hypertensive retinopathy  
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 
infantile cerebellar-retinal degeneration  
Iris Hypoplasia and Glaucoma  
Joubert syndrome 4  
Judge Misch Wright Syndrome 
Kuster Majewski Hammerstein Syndrome 
late-onset retinal degeneration  
Lattice Degeneration of Retina Leading to Retinal Detachment 
Leber congenital amaurosis +   
Lisch epithelial corneal dystrophy 
MacKay Shek Carr Syndrome 
macular corneal dystrophy  
Macular Corneal Dystrophy, Type II  
macular degeneration +   
Macular Dystrophy, Fenestrated Sheen Type 
Macular Dystrophy, Retinal, 1, North Carolina Type 
Macular Dystrophy, Retinal, 2  
Meesmann corneal dystrophy  
Microcephaly and Chorioretinopathy +   
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 
Mousa Al din Al Nassar Syndrome 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
nerve fibre bundle defect 
night blindness +   
Noble Bass Sherman Syndrome 
O'Donnell Pappas Syndrome  
Oculodental Syndrome Rutherfurd Syndrome 
Oculomelic Amyoplasia  
peripheral retinal degeneration +  
Pigmented Paravenous Chorioretinal Atrophy  
posterior amorphous corneal dystrophy 
posterior polymorphous corneal dystrophy +   
preretinal fibrosis  
proliferative vitreoretinopathy +   
Pseudoinflammatory Fundus Dystrophy, Finnish Type  
Rambaud Galian Syndrome 
Ramos Arroyo Clark Syndrome 
Reis-Bucklers corneal dystrophy  
Retina Reperfusion Injury  
Retinal Aplasia 
Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis  
Retinal Arteries, Tortuosity of  
retinal artery occlusion +   
Retinal Cone Dystrophy 1 
retinal degeneration +   
Retinal Degeneration and Epilepsy 
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type  
retinal detachment +   
retinal drusen +   
Retinal Dysplasia +   
retinal edema +   
Retinal Hemorrhage +   
Retinal Neoplasms +   
Retinal Neovascularization  
retinal perforation +  
retinal vascular disease +   
retinal vasculitis +   
Retinal Vasculopathy with Cerebral Leukodystrophy  
retinitis +   
retinitis pigmentosa +   
retinopathy of prematurity +   
retinoschisis +   
Ribbonlike Corneal Degeneration with Deafness 
Roifman Syndrome  
rubeosis iridis 
Sammartino De Crecchio Syndrome 
Schnyder corneal dystrophy  
Senior-Loken Syndrome 7  
Sickle Cell Retinopathy  
Snowflake Vitreoretinal Degeneration  
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
stromal dystrophy +   
subepithelial mucinous corneal dystrophy 
Sveinsson chorioretinal atrophy  
Vitreoretinochoroidopathy  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  

Synonyms
Exact Synonyms: BCD ;   Bietti Crystalline Dystrophy ;   Bietti Crystalline Retinopathy ;   Bietti tapetoretinal degeneration with marginal corneal dystrophy ;   Bietti's crystalline corneoretinal dystrophy ;   Bietti's crystalline dystrophy
Primary IDs: MESH:C535440 ;   RDO:0000556
Alternate IDs: OMIM:210370
Xrefs: GARD:10050
Definition Sources: https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.