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Ontology Browser

Term:
Leber congenital amaurosis 3 (DOID:0110331)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Aldred Syndrome 
Alport syndrome +   
Alstrom syndrome  
Amaurosis Hypertrichosis  
amyotrophic lateral sclerosis +   
autosomal genetic disease +   
autosomal recessive pericentral pigmentary retinopathy 
Bartter disease +   
basal laminar drusen  
Bork Stender Schmidt Syndrome 
Brugada syndrome +   
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
Chang Davidson Carlson Syndrome 
chondrodysplasia punctata +   
Chromosome Xp11.3 Deletion Syndrome  
ciliopathy +   
Cone Dystrophy 4  
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Cone Rod Dystrophy Amelogenesis Imperfecta 
cone-rod dystrophy +   
cone-rod dystrophy 1  
cone-rod dystrophy 10  
cone-rod dystrophy 11  
cone-rod dystrophy 12  
cone-rod dystrophy 13  
cone-rod dystrophy 14  
cone-rod dystrophy 16  
cone-rod dystrophy 17 
cone-rod dystrophy 19  
cone-rod dystrophy 2  
cone-rod dystrophy 20  
Cone-Rod Dystrophy 21  
cone-rod dystrophy 3  
cone-rod dystrophy 5  
cone-rod dystrophy 6  
cone-rod dystrophy 7  
cone-rod dystrophy 8 
Cornelia de Lange syndrome +   
corticosteroid-binding globulin deficiency  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm 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  
dominant pericentral pigmentary retinopathy 
erythrokeratodermia variabilis +   
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 +   
Flynn Aird Syndrome 
Furukawa Takagi Nakao Syndrome 
gene duplication disease +   
Hardikar Syndrome 
hypochondrogenesis  
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 AND RETINITIS PIGMENTOSA  
isolated microphthalmia 4  
isolated microphthalmia 5  
Jalili syndrome  
Kearns-Sayre syndrome  
lambda 5 deficiency 
late-adult onset retinitis pigmentosa 
Leber congenital amaurosis 1  
Leber congenital amaurosis 10  
Leber congenital amaurosis 11  
Leber congenital amaurosis 12  
Leber congenital amaurosis 13  
Leber congenital amaurosis 14  
Leber congenital amaurosis 15  
Leber congenital amaurosis 16  
Leber congenital amaurosis 17  
Leber Congenital Amaurosis 19  
Leber congenital amaurosis 2  
Leber congenital amaurosis 3  
A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. (DO)
Leber congenital amaurosis 4  
Leber congenital amaurosis 5  
Leber congenital amaurosis 6  
Leber congenital amaurosis 7  
Leber congenital amaurosis 8  
Leber congenital amaurosis 9  
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS  
Light Fixation Seizure Syndrome 
Macular Dystrophy with Central Cone Involvement  
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Mirhosseini-Holmes-Walton Syndrome 
multiple epiphyseal dysplasia due to collagen 9 anomaly +   
multiple pterygium syndrome +   
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
NARP syndrome  
Newfoundland cone-rod dystrophy  
Noonan syndrome +   
Oculotrichodysplasia 
Oliver-McFarlane syndrome  
Opitz-GBBB syndrome +   
osteogenesis imperfecta type 14  
osteogenesis imperfecta type 6  
Peripheral Cone Dystrophy 
PHARC syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Posterior Column Ataxia with Retinitis Pigmentosa  
posterior polymorphous corneal dystrophy 3  
postural orthostatic tachycardia syndrome  
primary congenital glaucoma +   
Progressive Pallidal Degeneration with Retinitis Pigmentosa 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Retinal Cone Dystrophy 3A  
Retinal Cone Dystrophy 3B  
Retinal Cone Dystrophy 4  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 12  
retinitis pigmentosa 13  
retinitis pigmentosa 14  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 19  
retinitis pigmentosa 2  
retinitis pigmentosa 20  
retinitis pigmentosa 22 
retinitis pigmentosa 23  
retinitis pigmentosa 24 
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 27  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 3  
retinitis pigmentosa 30  
retinitis pigmentosa 31  
retinitis pigmentosa 32  
retinitis pigmentosa 33  
retinitis pigmentosa 34 
retinitis pigmentosa 35  
retinitis pigmentosa 36  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 39  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 42  
retinitis pigmentosa 43  
retinitis pigmentosa 44  
retinitis pigmentosa 45  
retinitis pigmentosa 46  
retinitis pigmentosa 47  
retinitis pigmentosa 48  
retinitis pigmentosa 49  
retinitis pigmentosa 50  
retinitis pigmentosa 51  
retinitis pigmentosa 54  
retinitis pigmentosa 55  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 58  
retinitis pigmentosa 59  
retinitis pigmentosa 6  
retinitis pigmentosa 60  
retinitis pigmentosa 61  
retinitis pigmentosa 62  
retinitis pigmentosa 63 
retinitis pigmentosa 66  
retinitis pigmentosa 67  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 70  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
Retinitis Pigmentosa 76  
retinitis pigmentosa 77  
Retinitis Pigmentosa 78  
Retinitis Pigmentosa 79  
Retinitis Pigmentosa 80  
retinitis pigmentosa 81  
Retinitis Pigmentosa 83  
Retinitis Pigmentosa 84  
Retinitis Pigmentosa 85  
Retinitis Pigmentosa 86  
Retinitis Pigmentosa 87  
Retinitis Pigmentosa 88  
Retinitis Pigmentosa 89  
retinitis pigmentosa 9  
Retinitis Pigmentosa 90 
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS  
Retinitis Pigmentosa Inversa with Deafness 
retinitis pigmentosa with or without situs inversus  
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium 
retinitis pigmentosa Y-linked 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Retinitis Pigmentosa, Late-Onset Dominant  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
RHYNS Syndrome  
Ritscher-Schinzel syndrome +   
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
schizophrenia 13 
schizophrenia 14 
schizophrenia 16  
schizophrenia 18  
schizophrenia 9  
Senior-Loken syndrome +   
Senior-Loken Syndrome 4  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
short-rib thoracic dysplasia 9 with or without polydactyly  
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Tapetoretinal Degeneration with Ataxia 
Usher syndrome +   
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked cone-rod dystrophy 3  
X-linked monogenic disease +   
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Y-linked monogenic disease +   

Synonyms
Exact Synonyms: Amaurosis congenita of Leber, 3 ;   LCA3 ;   Leber Congenital Amaurosis Type 3
Narrow Synonyms: RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED ;   Retinitis pigmentosa, juvenile, autosomal recessive
Broad Synonyms: SPATA7-related disorder
Primary IDs: MESH:C536998 ;   MESH:C565814
Alternate IDs: OMIM:604232
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19268277 "DO"

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