congenital stationary night blindness
Information
- Disease name
- congenital stationary night blindness
- Disease ID
- DOID:0050534
- Description
- "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." [url:http\://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3, url:http\://www.ncbi.nlm.nih.gov/books/NBK1245/, url:http\://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/, url:http\://www.omim.org/entry/610444, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02909985 | Completed | N/A | Visual Activity Evoked by Infrared in Humans After Dark Adaptation | September 2015 | August 2016 |
| NCT02435940 | Recruiting | Inherited Retinal Degenerative Disease Registry | June 2014 | June 2037 |
- Disase is a (Disease Ontology)
- DOID:8498
- Cross Reference ID (Disease Ontology)
- ICD10CM:H53.63
- Cross Reference ID (Disease Ontology)
- ICD9CM:368.61
- Cross Reference ID (Disease Ontology)
- MESH:C537743
- Cross Reference ID (Disease Ontology)
- MIM:PS310500
- Cross Reference ID (Disease Ontology)
- ORDO:215
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:193687000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1306122
- Exact Synonym (Disease Ontology)
- congenital essential nyctalopia
- HPO alt_id (Human Phenotype Ontology)
- HP:0007684
- HPO alt_id (Human Phenotype Ontology)
- HP:0007861
- HPO alt_id (Human Phenotype Ontology)
- HP:0007953
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0007642
- OrphaNumber from OrphaNet (Orphanet)
- 215