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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613877
http://purl.bioontology.org/ontology/OMIM/613877
|
|---|---|
| Preferred Name | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 |
| Synonyms |
FPLD4
LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
FPLD4
LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS
|
|---|---|
| prefLabel | LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
|
| Gene Symbol |
FPLD4
PLIN
PLIN1
|
| Scope Statement | Body habitus becomes apparent in childhood [MISCELLANEOUS]
Caused by mutation in the perilipin-1 gene (PLIN1, 170290.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q26
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 613877
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5191005
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |