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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619322
http://purl.bioontology.org/ontology/OMIM/619322
|
|---|---|
| Preferred Name | MARBACH-RUSTAD PROGEROID SYNDROME |
| Synonyms |
MARUPS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MARUPS
|
|---|---|
| prefLabel | MARBACH-RUSTAD PROGEROID SYNDROME
|
| Gene Symbol |
NET25
LEMD2
CTRCT42
MARUPS
|
| Scope Statement | Caused by mutation in the LEM domain-containing protein-2 gene (LEMD2, 616312.0002) [MOLECULAR BASIS]
Based on report of 2 unrelated patients (last curated May 2021) [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6p21.31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619322
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543388
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |