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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618193
http://purl.bioontology.org/ontology/OMIM/618193
|
|---|---|
| Preferred Name | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 |
| Synonyms |
PLOSL2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PLOSL2
|
|---|---|
| prefLabel | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2
|
| Gene Symbol |
PLOSL2
AD17
TREM2
|
| Scope Statement | Four clinical stages [MISCELLANEOUS]
4 - late neurologic stage with profound dementia and death by age 50 [MISCELLANEOUS]
Caused by mutation in the triggering receptor expressed on myeloid cells 2 gene (TREM2, 605086.0001) [MOLECULAR BASIS]
1 - latent phase with normal development into early childhood [MISCELLANEOUS]
2 - osseous stage with joint pain and fractures in second-third decade [MISCELLANEOUS]
3 - early neurologic stage manifesting as frontal lobe syndrome [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6p21.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618193
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4748657
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |