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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618580
http://purl.bioontology.org/ontology/OMIM/618580
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 |
| Synonyms |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80
GPIBD20
DEE80
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 20
EIEE80
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80
GPIBD20
DEE80
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 20
EIEE80
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
|
| Gene Symbol |
DEE80
PIGB
|
| Scope Statement | Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class B protein gene (PIGB, 604122.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q21-q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618580
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231418
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |