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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/601777
http://purl.bioontology.org/ontology/OMIM/601777
|
|---|---|
| Preferred Name | CONE-ROD DYSTROPHY 6 |
| Synonyms |
RETINAL CONE DYSTROPHY 2
RCD2
CORD6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
RETINAL CONE DYSTROPHY 2
RCD2
CORD6
|
|---|---|
| prefLabel | CONE-ROD DYSTROPHY 6
|
| Gene Symbol |
GUC2D
CSNB1I
RCD2
LCA1
CORD6
GUCY2D
CACD1
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| Scope Statement | Intrafamilial variability in severity [MISCELLANEOUS]
Onset in the first to sixth decade of life [MISCELLANEOUS]
Caused by mutation in the membrane guanylate cyclase-2D gene (GUCY2D, 600179.0005) [MOLECULAR BASIS]
Progressive deterioration of central vision [MISCELLANEOUS]
Age-dependent penetrance [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17p13.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 601777
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1866293
|
| Moved from | 601251
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |