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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/210000
http://purl.bioontology.org/ontology/OMIM/210000
|
|---|---|
| Preferred Name | BEHR SYNDROME |
| Synonyms |
OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
BEHRS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
BEHRS
|
|---|---|
| prefLabel | BEHR SYNDROME
|
| Gene Symbol |
MTDPS14
BERHS
NTG
OPA1
NPG
|
| Scope Statement | Onset in the first decade [MISCELLANEOUS]
Caused by mutation in the OPA1 mitochondrial dynamin-like GTPase gene (OPA1, 605290.0003) [MOLECULAR BASIS]
Heterozygous mutation carriers may have isolated optic atrophy [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3q28-q29
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 210000
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0221061
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |