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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616339
http://purl.bioontology.org/ontology/OMIM/616339
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|---|---|
| Preferred Name | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29 |
| Synonyms |
EIEE29
DEE29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EIEE29
DEE29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
|---|---|
| prefLabel | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29
|
| Gene Symbol |
AARS
AARS1
CMT2N
TTD8
DEE29
HDLS2
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| Scope Statement | Seizure onset in first months of life [MISCELLANEOUS]
Onset at birth [MISCELLANEOUS]
Caused by mutation in the alanyl-tRNA synthetase 1 gene (AARS1, 601065.0003) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 16q22
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 616339
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225361
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |