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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613830
http://purl.bioontology.org/ontology/OMIM/613830
|
|---|---|
| Preferred Name | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D |
| Synonyms |
CSNB1D
CSNB, COMPLETE, AUTOSOMAL RECESSIVE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CSNB1D
CSNB, COMPLETE, AUTOSOMAL RECESSIVE
|
|---|---|
| prefLabel | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
|
| Gene Symbol |
SLC24A1
NCKX1
CSNB1D
|
| Scope Statement | Caused by solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 gene (SLC24A1, 603617.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 15q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613830
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3151193
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |