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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/606798
http://purl.bioontology.org/ontology/OMIM/606798
|
|---|---|
| Preferred Name | BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO
|
|---|---|
| Gene Symbol |
DRD1B
DRD5
DRD1L2
|
| Scope Statement | Mean age of onset 56 years [MISCELLANEOUS]
Susceptibility conferred by allele 2 of the dinucleotide repeat in the dopamine receptor gene (DRD5, 126453.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T033
|
| Gene Locus | 4p16.1-p15.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 606798
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4692845
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |