loading...| Preferred Name | Night blindness, congenital stationary | |
| Synonyms |
CSNB2B Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive Congenital stationary night blindness Night Blindness, Congenital Stationary, Type 2 Night Blindness, Congenital Stationary, Type 2B Night Blindness, Congenital Stationary, Type 2A Night Blindness, Congenital Stationary, Complete, Autosomal Recessive CSNB1A Hemeralopia-myopia X-linked congenital stationary night blindness CSNB, Complete, X-Linked CSNB2 Night Blindness, Congenital Stationary, Type 1A Night blindness, congenital stationary, type 1 Night blindness, congenital stationary, with myopia Myopia-night blindness Xlcsnb X-Linked Csnb Cone-rod synaptic disorder, congenital nonprogressive CSNB2A Night Blindness, Congenital Stationary, Type 1B CSNB, Incomplete, X-Linked CSNB, Incomplete, Autosomal Recessive CRSD CSNB1B |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536122 |
|
| altLabel |
CSNB2B Night Blindness, Congenital Stationary, Incomplete, Autosomal Recessive Congenital stationary night blindness Night Blindness, Congenital Stationary, Type 2 Night Blindness, Congenital Stationary, Type 2B Night Blindness, Congenital Stationary, Type 2A Night Blindness, Congenital Stationary, Complete, Autosomal Recessive CSNB1A Hemeralopia-myopia X-linked congenital stationary night blindness CSNB, Complete, X-Linked CSNB2 Night Blindness, Congenital Stationary, Type 1A Night blindness, congenital stationary, type 1 Night blindness, congenital stationary, with myopia Myopia-night blindness Xlcsnb X-Linked Csnb Cone-rod synaptic disorder, congenital nonprogressive CSNB2A Night Blindness, Congenital Stationary, Type 1B CSNB, Incomplete, X-Linked CSNB, Incomplete, Autosomal Recessive CRSD CSNB1B |
|
| cui |
C3711543 C0339535 C1850362 C3495587 C4041558 C1864877 C1848172 C3501847 |
|
| HM |
D015785 D009216 D009755 D040181 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D009216 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
150 |
|
| MMR |
20150818 |
|
| notation |
C536122 |
|
| prefLabel |
Night blindness, congenital stationary |
|
| SC |
3 |
|
| Scope Statement |
A clinically and genetically heterogeneous group of nonprogressive retinal disorders that are characterized by impaired NIGHT VISION, decreased VISUAL ACUITY; NYSTAGMUS; MYOPIA, and STRABISMUS. CSNB can be classified into 2 groups based on ELECTRORETINOGRAPHY findings. Germline mutations in several genes have been identified. OMIM: 310500 |
|
| TERMUI |
T738309 T000882717 T738307 T805481 T738310 T808588 T823098 T823621 T842732 T823618 T738311 T823629 T738312 T000882718 T738308 T826054 T842733 T823630 T823619 T823822 T823820 T823100 T823099 T805888 T823821 T823620 |
|
| TH |
OMIM (2013) OMIM (2015) NLM (2013) GHR (2014) ORD (2015) ORD (2010) |
|
| tui |
T047 T019 |