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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/604232
http://purl.bioontology.org/ontology/OMIM/604232
|
|---|---|
| Preferred Name | LEBER CONGENITAL AMAUROSIS 3 |
| Synonyms |
RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET
RP94
LCA3
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET
RP94
LCA3
|
|---|---|
| prefLabel | LEBER CONGENITAL AMAUROSIS 3
|
| Gene Symbol |
SPATA7
RP94
LCA3
HSD3
|
| notation | 604232
|
| Scope Statement | Inter- and intrafamilial variability [MISCELLANEOUS]
Age at onset ranges from infancy (LCA) to adulthood (RP) [MISCELLANEOUS]
Caused by mutation in the spermatogenesis-associated protein-7 gene (SPATA7, 609868.0001) [MOLECULAR BASIS]
|
| 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 | 14q31.3
|
| tui | T047
|
| cui |
C1858677
C5676889
|
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