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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/613826
http://purl.bioontology.org/ontology/OMIM/613826
|
|---|---|
| Preferred Name | LEBER CONGENITAL AMAUROSIS 6 |
| Synonyms |
LCA6
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | LCA6
|
|---|---|
| prefLabel | LEBER CONGENITAL AMAUROSIS 6
|
| Gene Symbol |
RPGRIP1
LCA6
CORD13
|
| notation | 613826
|
| Scope Statement | Caused by mutation in the RPGR interacting protein 1 gene (RPGRIP1, 605446.0001) [MOLECULAR BASIS]
Progressive disease [MISCELLANEOUS]
Congenital onset, vision limited to light perception since early childhood [MISCELLANEOUS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 14q11
|
| tui |
T047
T019
|
| cui | C1854260
|
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