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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615924
http://purl.bioontology.org/ontology/OMIM/615924
|
|---|---|
| Preferred Name | ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY |
| Synonyms |
PELD
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PELD
|
|---|---|
| prefLabel | ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
|
| Gene Symbol |
HMND13
SPG17
BSCL2
PELD
|
| Scope Statement | Lipodystrophic appearance may be mild or not present [MISCELLANEOUS]
Onset of encephalopathy between ages 2 and 3 years [MISCELLANEOUS]
Caused by mutation in the seipin gene (BSCL2, 606158.0017) [MOLECULAR BASIS]
Death usually occurs in childhood [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615924
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4014700
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |