loading...| Preferred Name | congenital stationary night blindness | |
| Synonyms |
congenital essential nyctalopia |
|
| Definitions |
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. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050534 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
ICD9CM:368.61 MESH:C537743 MIM:PS310500 UMLS_CUI:C1306122 ICD10CM:H53.63 SNOMEDCT_US_2023_03_01:193687000 ORDO:215 |
|
| definition |
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. |
|
| disease has basis in | ||
| has exact synonym |
congenital essential nyctalopia |
|
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0050534 |
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| in_subset | ||
| label |
congenital stationary night blindness |
|
| notation |
DOID:0050534 |
|
| prefLabel |
congenital stationary night blindness |
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| subClassOf |