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Ontology Browser

Term:
Cholestasis with Gallstone, Ataxia, and Visual Disturbance (DOID:9001794)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
cholestasis +     
Gallstones +     
Aagenaes syndrome 
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome 
Alacrima +   
Albinism +   
aniridia +   
ARC syndrome +   
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
basal laminar drusen  
bestrophinopathy  
biliary atresia +   
Bothnia retinal dystrophy  
bradyopsia  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Cholesterol Pneumonia 
Choroideremia +   
COACH syndrome  
cone-rod dystrophy +   
Congenital Alacrima +   
congenital bile acid synthesis defect +   
Congenital Fibrosis of Extraocular Muscles, 2  
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement  
Congenital Fibrosis of Extraocular Muscles, 3B  
Congenital Fibrosis of Extraocular Muscles, 3C 
Congenital Fibrosis of Extraocular Muscles, 5  
Congenital Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
Duane retraction syndrome +   
enhanced S-cone syndrome  
extrahepatic cholestasis  
exudative vitreoretinopathy +   
familial benign fleck retina  
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
Gallbladder Disease 1 +   
Glaucoma 1, Open Angle, P  
GRACILE syndrome  
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
Hardikar Syndrome 
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
high hyperopia  
Histiocytic Dermatoarthritis 
intrahepatic cholestasis +   
Iris Pigment Epithelium Anomalies 
Joubert syndrome 8  
Leber congenital amaurosis +   
Lutz Richner Landolt Syndrome 
Macular Dystrophy, X-Linked +   
megalocornea +   
Microcephaly and Chorioretinopathy +   
Mirizzi Syndrome 
obstructive jaundice +   
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
pigmented paravenous chorioretinal atrophy  
PORETTI-BOLTSHAUSER SYNDROME  
primary congenital glaucoma +   
pseudopapilledema 
Radial Drusen, Autosomal Dominant 
renal hypomagnesemia 5 with ocular involvement  
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe  
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   

Synonyms
Primary IDs: MESH:C565856
Alternate IDs: OMIM:214980

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