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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/163500
http://purl.bioontology.org/ontology/OMIM/163500
|
|---|---|
| Preferred Name | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 |
| Synonyms |
NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE
CSNBAD2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE
CSNBAD2
|
|---|---|
| prefLabel | NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2
|
| Gene Symbol |
PDEB
CSNBAD2
PDE6B
RP40
|
| Scope Statement | Affected individuals exhibit normal day vision [MISCELLANEOUS]
Caused by mutation in the phosphodiesterase 6B gene (PDE6B, 180072.0005) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 4p16.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 163500
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1876182
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |