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| Term | congenital stationary night blindness | ID (Ontology) | DOID:0050534 (Human Disease) | |||||
| 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. | |||||||
| Also Known As | "congenital essential nyctalopia" | |||||||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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disease |__physical disorder___________ night blindness | |__hereditary night blindness__| congenital stationary night blindness 23 rec. |__congenital stationary night blindness 1A 2 rec. |__congenital stationary night blindness 1B 4 rec. |__congenital stationary night blindness 1C 1 rec. |__congenital stationary night blindness 1D 1 rec. |__congenital stationary night blindness 1E 3 rec. |__congenital stationary night blindness 1F 1 rec. |__congenital stationary night blindness 1G 1 rec. |__congenital stationary night blindness 1H 2 rec. |__congenital stationary night blindness 2A 1 rec. |__congenital stationary night blindness autosomal dominant 1 |__congenital stationary night blindness autosomal dominant 2 1 rec. |__congenital stationary night blindness autosomal dominant 3 1 rec. |__Oguchi disease-1 4 rec. |__Oguchi disease-2 1 rec. |
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physical disorder hereditary night blindness |
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External Crossreferences & Linkouts
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ICD10CM:H53.63 ICD9CM:368.61 MESH:C537743 MIM:PS310500 ORDO:215 SNOMEDCT_US_2023_03_01:193687000 UMLS_CUI:C1306122 |
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