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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616732
http://purl.bioontology.org/ontology/OMIM/616732
|
|---|---|
| Preferred Name | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES |
| Synonyms |
OPA10
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | OPA10
OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
|
|---|---|
| prefLabel | OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
|
| Gene Symbol |
OPA10
RTN4IP1
NIMP
|
| Scope Statement | Onset of visual dysfunction in early childhood [MISCELLANEOUS]
Caused by mutation in the reticulon 4-interacting protein-1 gene (RTN4IP1, 610502.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 6q21
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 616732
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225227
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |