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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/125250
http://purl.bioontology.org/ontology/OMIM/125250
|
|---|---|
| Preferred Name | OPTIC ATROPHY PLUS SYNDROME |
| Synonyms |
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
DOA+
DOMINANT OPTIC ATROPHY PLUS SYNDROME
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
DOA+
DOMINANT OPTIC ATROPHY PLUS SYNDROME
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|---|---|
| prefLabel | OPTIC ATROPHY PLUS SYNDROME
|
| Gene Symbol |
MTDPS14
BERHS
NTG
OPA1
NPG
|
| Scope Statement | Variable age of onset (childhood to adult) [MISCELLANEOUS]
Caused by mutation in the OPA1 mitochondrial dynamin-like GTPase gene (OPA1, 605290.0011) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
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| Gene Locus | 3q28-q29
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 125250
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3276549
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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 |