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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/613341
http://purl.bioontology.org/ontology/OMIM/613341
|
|---|---|
| Preferred Name | LEBER CONGENITAL AMAUROSIS 14 |
| Synonyms |
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
LCA14
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
LCA14
RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
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|---|---|
| prefLabel | LEBER CONGENITAL AMAUROSIS 14
|
| Gene Symbol |
LRAT
LCA14
|
| notation | 613341
|
| Scope Statement | Ocular phenotype falls within a spectrum of retinal dystrophy from severe, Leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa [MISCELLANEOUS]
Caused by mutation in the lecithin retinol acyltransferase gene (LRAT, 604863.0001) [MOLECULAR BASIS]
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| 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.
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| Gene Locus | 4q31
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| tui | T047
|
| cui |
C2750063
C2750065
C2750064
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