Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617020
http://purl.bioontology.org/ontology/OMIM/617020
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 |
| Synonyms |
GPIBD23
EIEE38
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
DEE38
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GPIBD23
EIEE38
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 23
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38
DEE38
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38
|
| Gene Symbol |
DEE38
ARV1
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Caused by mutation in the ARV1 homolog, fatty acid homeostasis modulator gene (ARV1, 611647.0001) [MOLECULAR BASIS]
Death in early childhood (in some patients) [MISCELLANEOUS]
Severe disorder [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 1q42.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617020
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310762
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |