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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618792
http://purl.bioontology.org/ontology/OMIM/618792
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|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 |
| Synonyms |
EIEE84
EPILEPTIC ENCEPHALOPATHY, EARLY IFANTILE, 84
JAMUAR SYNDROME
DEE84
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EIEE84
EPILEPTIC ENCEPHALOPATHY, EARLY IFANTILE, 84
JAMUAR SYNDROME
DEE84
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84
|
| Gene Symbol |
DEE84
UGDH
UDPGDH
|
| Scope Statement | Death in childhood (in some patients) [MISCELLANEOUS]
Onset in the first months of life [MISCELLANEOUS]
Caused by mutation in the UDP-glucose dehydrogenase gene (UGDH, 603370.0001) [MOLECULAR BASIS]
Seizures are usually refractory to medication [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 4p15.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618792
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5394081
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |