Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Leber congenital amaurosis (DOID:14791)
Annotations: Rat: (97) Mouse: (97) Human: (107) Chinchilla: (94) Bonobo: (94) Dog: (95) Squirrel: (91) Pig: (95)
Parent Terms Term With Siblings Child Terms
physical disorder +     
retinal disease +     
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
agnathia-otocephaly complex  
Aicardi syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Alacrima +   
Albinism +   
angioid streaks +  
aniridia +   
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
Ausems Wittebol-Post Hennekam Syndrome 
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
basal laminar drusen  
bestrophinopathy  
Bietti crystalline corneoretinal dystrophy  
bladder exstrophy-epispadias-cloacal exstrophy complex +   
Bothnia retinal dystrophy  
bradyopsia  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Floriform 
Cataract, Pulverulent 
caudal regression syndrome  
Cavitary Optic Disc Anomalies  
Central Serous Chorioretinopathy  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
chorioretinal scar +  
Choroideremia +   
cleft palate-lateral synechia syndrome  
cone dystrophy +   
cone-rod dystrophy +   
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
Congenital Alacrima +   
congenital amegakaryocytic thrombocytopenia  
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
congenital epulis 
congenital fibrosarcoma 
Congenital Fibrosis of Extraocular Muscles, 3B  
congenital fibrosis of the extraocular muscles +   
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 Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
congenital heart disease +   
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Mydriasis +   
congenital myopathy +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital secretory chloride diarrhea 1  
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
cryptophthalmia +   
developmental cardiac valvular defect  
distal arthrogryposis type 5  
Duane retraction syndrome +   
enhanced S-cone syndrome  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
exudative vitreoretinopathy +   
familial benign fleck retina  
FLOTCH Syndrome 
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
fundus albipunctatus  
gastroschisis +   
Glaucoma 1, Open Angle, P  
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
high hyperopia  
Histiocytic Dermatoarthritis 
hypertensive retinopathy  
hypospadias +   
imperforate anus +   
Iris Hypoplasia and Glaucoma 
Iris Pigment Epithelium Anomalies 
Joubert syndrome 8  
Klippel-Feil syndrome +   
large congenital melanocytic nevus  
laryngomalacia +   
Leber congenital amaurosis +   
A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (DO)
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
Meckel's diverticulum 
megalocornea +   
Microcephaly and Chorioretinopathy +   
Microcephaly with Chorioretinopathy, Autosomal Dominant 
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
neovascular inflammatory vitreoretinopathy  
nerve fibre bundle defect 
neural tube defect +   
night blindness +   
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
omphalocele  
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
pigmented paravenous chorioretinal atrophy  
Poland syndrome 
polydactyly +   
PORETTI-BOLTSHAUSER SYNDROME  
preretinal fibrosis  
primary congenital glaucoma +   
pseudopapilledema 
Radial Drusen, Autosomal Dominant 
radioulnar synostosis +   
Rambaud Galian Syndrome 
Ramos Arroyo Clark Syndrome 
rapidly involuting congenital hemangioma 
renal hypomagnesemia 5 with ocular involvement  
Retina Reperfusion Injury  
Retinal Aplasia 
retinal arterial tortuosity  
retinal artery occlusion +   
retinal degeneration +   
retinal detachment +   
Retinal Dysplasia +   
retinal dystrophy with leukodystrophy  
Retinal Dystrophy, Early Onset Severe  
retinal edema +   
Retinal Hemorrhage +   
Retinal Neoplasms +   
Retinal Neovascularization  
retinal perforation +  
retinal vascular disease +   
retinal vasculitis +   
retinal vasculopathy with cerebral leukodystrophy  
retinitis +   
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
retinopathy of prematurity +   
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Roifman Syndrome  
rubeosis iridis 
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Sickle Cell Retinopathy  
Silver-Russell syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
TORCH syndrome 
Vascular Hyalinosis 
visceral heterotaxy +   
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
X-Linked Macular Dystrophy +   
Zika virus congenital syndrome 

Synonyms
Exact Synonyms: Hereditary Epithelial Dysplasia of Retina ;   Hereditary Retinal Aplasia ;   Heredoretinopathia Congenitalis ;   LCA ;   Leber Abiotrophy ;   Leber Amaurosis ;   Leber Congenital Amauroses ;   Leber abiotrophies ;   Leber congenital tapetoretinal degeneration ;   Leber's amauroses ;   Leber's amaurosis ;   Leber's congenital amaurosis ;   Leber's disease ;   Lebers amaurosis ;   congenital amaurosis of retinal origin ;   congenital retinal blindness ;   dysgenesis neuroepithelialis retinae
Primary IDs: MESH:D057130
Xrefs: GARD:634 ;   NCI:C129075 ;   OMIM:PS204000 ;   ORDO:65
Definition Sources: http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis "DO" "DO"

paths to the root