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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/611523
http://purl.bioontology.org/ontology/OMIM/611523
|
|---|---|
| Preferred Name | PONTOCEREBELLAR HYPOPLASIA, TYPE 6 |
| Synonyms |
PCH6
ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PCH6
ENCEPHALOPATHY, FATAL INFANTILE, WITH MITOCHONDRIAL RESPIRATORY CHAIN DEFECTS
|
|---|---|
| prefLabel | PONTOCEREBELLAR HYPOPLASIA, TYPE 6
|
| Gene Symbol |
RARS2
RARSL
PCH6
|
| Scope Statement | Caused by mutation in the mitochondrial arginyl-tRNA synthetase gene (RARS2, 611524.0001) [MOLECULAR BASIS]
Onset at birth or in first days or life [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Death in childhood may occur [MISCELLANEOUS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui |
T047
T019
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| Gene Locus | 6q16.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 611523
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1969084
|
| 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 |