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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/601846
http://purl.bioontology.org/ontology/OMIM/601846
|
|---|---|
| Preferred Name | MYOPATHY WITH RIMMED UBIQUITIN-POSITIVE AUTOPHAGIC VACUOLATION, AUTOSOMAL DOMINANT |
| Synonyms |
VACUOLAR NEUROMYOPATHY
MRUPAV
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
VACUOLAR NEUROMYOPATHY
MRUPAV
|
|---|---|
| prefLabel | MYOPATHY WITH RIMMED UBIQUITIN-POSITIVE AUTOPHAGIC VACUOLATION, AUTOSOMAL DOMINANT
|
| Gene Symbol |
PLIN4
MRUPAV
KIAA1881
|
| Scope Statement | Slowly progressive [MISCELLANEOUS]
Adult onset [MISCELLANEOUS]
Caused by mutation in the perilipin 4 gene (PLIN4, 613247.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Age-dependent or incomplete penetrance [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 601846
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1866139
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |