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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616539
http://purl.bioontology.org/ontology/OMIM/616539
|
|---|---|
| Preferred Name | PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY |
| Synonyms |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
PNSED
COXPD26
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
PNSED
COXPD26
|
|---|---|
| prefLabel | PERIPHERAL NEUROPATHY WITH VARIABLE SPASTICITY, EXERCISE INTOLERANCE, AND DEVELOPMENTAL DELAY
|
| Gene Symbol |
PNSED
TRM5
KIAA1393
TRMT5
|
| Scope Statement | Highly variable phenotype even within families [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
Caused by mutation in the tRNA methyltransferase 5 gene (TRMT5, 611023.0001) [MOLECULAR BASIS]
Later onset has been reported [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q23.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616539
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5567741
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |