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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618744
http://purl.bioontology.org/ontology/OMIM/618744
|
|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 |
| Synonyms |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83
EIEE83
BARAKAT-PERENTHALER SYNDROME
DEE83
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83
EIEE83
BARAKAT-PERENTHALER SYNDROME
DEE83
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83
|
| Gene Symbol |
UGP2
DEE83
UGPP2
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
Dysmorphic features (in some patients) [MISCELLANEOUS]
Death in early childhood may occur [MISCELLANEOUS]
Caused by mutation in the uridyl diphosphate glucose pyrophosphorylase 2 gene (UGP2, 191760.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2p14-p13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618744
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5231487
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |