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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618331
http://purl.bioontology.org/ontology/OMIM/618331
|
|---|---|
| Preferred Name | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS |
| Synonyms |
PEERB
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PEERB
|
|---|---|
| prefLabel | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS
|
| Gene Symbol |
PERRB
TRAPPC2L
|
| Scope Statement | Two unrelated patients have been reported (last curated February 2019) [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the trafficking protein particle complex 2-like gene (TRAPPC2L, 610970.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
Episodic exacerbation associated with illness [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16q22.1-q22.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618331
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193033
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |