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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620460
http://purl.bioontology.org/ontology/OMIM/620460
|
|---|---|
| Preferred Name | OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 |
| Synonyms |
OPMD2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | OPMD2
|
|---|---|
| prefLabel | OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2
|
| Gene Symbol |
HNRNPA2B1
IBMPFD2
OPMD2
HNRPA2B1
|
| Scope Statement | Caused by mutation in the heterogeneous nuclear ribonucleoprotein A2/B1 gene (HNRNPA2B1, 600124.0002) [MOLECULAR BASIS]
One family with autosomal dominant inheritance has been reported (last curated August 2023) [MISCELLANEOUS]
Lower limbs more affected than upper limbs [MISCELLANEOUS]
Onset in the teenage years (in some patients) [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
Onset in first years of life (most patients) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7p15
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620460
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830682
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |