Send us a Message



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

Ontology Browser

Term:
congenital stationary night blindness (DOID:0050534)
Annotations: Rat: (25) Mouse: (23) Human: (24) Chinchilla: (21) Bonobo: (21) Dog: (23) Squirrel: (22) Pig: (21)
Parent Terms Term With Siblings Child Terms
myopia +     
physical disorder +     
agnathia-otocephaly complex  
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
Blepharoptosis, Myopia, and Ectopia Lentis 
Bornholm Eye Disease 
caudal regression syndrome  
cleft palate-lateral synechia syndrome  
Cochlear Deafness with Myopia and Intellectual Impairment 
Cohen syndrome  
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
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 the extraocular muscles +   
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 myopathy +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
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)
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
cryptophthalmia +   
Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 
degenerative myopia  
developmental cardiac valvular defect  
Donnai-Barrow syndrome  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
External Ophthalmoplegia and Myopia 
Gastrocutaneous Syndrome 
gastroschisis +   
Hamamy Syndrome  
High Myopia +   
hypospadias +   
imperforate anus +   
Isolated Microphthalmia with Corectopia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Klippel-Feil syndrome +   
large congenital melanocytic nevus  
laryngomalacia +   
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
MASS Syndrome  
Meckel's diverticulum 
MLS syndrome +   
Mousa Al din Al Nassar Syndrome 
multiple congenital anomalies-hypotonia-seizures 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 28  
Myopia 3 
Myopia 5 
Myopia 6  
Myopia 7 
Myopia 8 
Myopia 9 
neural tube defect +   
Night Blindness Skeletal Anomalies Unusual Facies 
Noble Bass Sherman Syndrome 
non-congenital cyst of kidney 
nonsyndromic congenital nail disorder +   
omphalocele  
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
Poland syndrome 
polydactyly +   
Polydactyly Myopia Syndrome 
primary congenital glaucoma +   
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
Silver-Russell syndrome +   
Sinus Node Disease and Myopia 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
TORCH syndrome 
visceral heterotaxy +   
Zika virus congenital syndrome 

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
Xrefs: OMIM:PS310500 ;   ORDO:215
Definition Sources: http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3 "DO" "DO", http://www.ncbi.nlm.nih.gov/books/NBK1245/ "DO" "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/ "DO" "DO", http://www.omim.org/entry/610444 "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 "DO" "DO"

paths to the root