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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620950
http://purl.bioontology.org/ontology/OMIM/620950
|
|---|---|
| Preferred Name | ENCEPHALOPATHY, ACUTE TRANSIENT |
| Synonyms |
ENPAT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ENPAT
|
|---|---|
| prefLabel | ENCEPHALOPATHY, ACUTE TRANSIENT
|
| Gene Symbol |
ABCB1
ENPAT
MDR1
IBD13
PGY1
|
| Scope Statement | Caused by mutation in the ATP-binding cassette, subfamily B, member 1 gene (ABCB1, 171050.0004) [MOLECULAR BASIS]
Features are secondary to drug response or fever, resolves within 24-48 hours [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7q21.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620950
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5975397
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |