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Ontology Browser

Term:
congenital stationary night blindness (DOID:0050534)
Annotations: Rat: (23) Mouse: (21) Human: (22) Chinchilla: (21) Bonobo: (21) Dog: (21) Squirrel: (20) Pig: (21)
Parent Terms Term With Siblings Child Terms
myopia +     
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
Blepharoptosis Myopia Ectopia Lentis 
Bornholm Eye Disease 
Cochlear Deafness with Myopia and Intellectual Impairment  
Cohen Syndrome  
congenital stationary night blindness +   
A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (DO)
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 
DEAFNESS AND MYOPIA  
degenerative myopia  
Donnai-Barrow syndrome  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
External Ophthalmoplegia and Myopia 
Gastrocutaneous Syndrome 
Hamamy Syndrome  
High Myopia  
Isolated Microphthalmia with Corectopia 
MASS Syndrome  
Mousa Al din Al Nassar Syndrome 
multiple epiphyseal dysplasia with myopia and deafness  
Myopia 1 
Myopia 10 
Myopia 11 
Myopia 12 
Myopia 13 
Myopia 14 
Myopia 15 
Myopia 16 
Myopia 17, Autosomal Dominant 
Myopia 18, Autosomal Recessive 
Myopia 19, Autosomal Dominant 
Myopia 2 
Myopia 20, Autosomal Dominant 
Myopia 21, Autosomal Dominant  
Myopia 22, Autosomal Dominant  
Myopia 23, Autosomal Recessive  
Myopia 24, Autosomal Dominant  
Myopia 25, Autosomal Dominant  
MYOPIA 26, X-LINKED, FEMALE-LIMITED  
Myopia 3 
Myopia 5 
Myopia 6  
Myopia 7 
Myopia 8 
Myopia 9 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
Night Blindness Skeletal Anomalies Unusual Facies 
Noble Bass Sherman Syndrome 
Polydactyly Myopia Syndrome 
Sinus Node Disease and Myopia 
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 

Synonyms
Exact Synonyms: CRSD ;   congenital essential nyctalopia ;   congenital stationary night blindness, type 1 ;   hemeralopia-myopia
Narrow Synonyms: CSNB, complete, autosomal recessive ;   CSNB, incomplete, X-linked ;   CSNB, incomplete, autosomal recessive ;   NBM1 nyctalopia ;   X-linked CSNB ;   X-linked congenital stationary night blindness ;   XLCSNB ;   congenital stationary night blindness, complete, autosomal recessive ;   congenital stationary night blindness, dominant ;   congenital stationary night blindness, recessive ;   myopia-night blindness
Primary IDs: MESH:C536122
Alternate IDs: RDO:0001565
Xrefs: OMIM:PS310500 ;   ORDO:215
Definition Sources: http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3, http://www.ncbi.nlm.nih.gov/books/NBK1245/, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/, http://www.omim.org/entry/610444, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215

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