loading...| Preferred Name | Oguchi disease | |
| Synonyms |
Congenital stationary night blindness, Oguchi type Oguchi syndrome |
|
| Definitions |
Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_75382 |
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| alternative_term |
Congenital stationary night blindness, Oguchi type Oguchi syndrome |
|
| definition |
Oguchi disease is an autosomal recessive retinal disorder characterized by congenital stationary night blindness (see this term) and the Mizuo-Nakamura phenomenon. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=75382 |
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| has_age_of_onset |
Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
OMIM:258100 ICD-10:H53.6 UMLS:C1306122 ICD-11:9B70 OMIM:613411 MeSH:C537743 |
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| label |
Oguchi disease |
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| notation |
ORPHA:75382 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_75382 |
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| prefLabel |
Oguchi disease |
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown Worldwide AND has_cases/families_value : 50.0 (Case) |
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| treeView | ||
| subClassOf |