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Ontology Browser

Term:
congenital stationary night blindness (DOID:0050534)
Annotations: Rat: (29) Mouse: (27) Human: (28) Chinchilla: (25) Bonobo: (25) Dog: (27) Squirrel: (25) Pig: (26)
Parent Terms Term With Siblings Child Terms
myopia +     
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
Blepharoptosis, Myopia, and 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 
degenerative myopia  
Donnai-Barrow syndrome  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
External Ophthalmoplegia and Myopia 
Gastrocutaneous Syndrome 
Hamamy Syndrome  
High Myopia +   
high myopia-sensorineural deafness syndrome  
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 27  
Myopia 3 
Myopia 5 
Myopia 6  
Myopia 7 
Myopia 8 
Myopia 9 
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 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1245/ "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/ "DO", http://www.omim.org/entry/610444 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 "DO"

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