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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Peroxisomal disease with epilepsy | |
| Synonyms |
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| ID |
http://www.orpha.net/ORDO/Orphanet_225686 |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225686 |
|
| hasDbXref |
UMLS:C5680899
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|
| label |
Peroxisomal disease with epilepsy
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|
| notation |
ORPHA:225686 Category
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|
| prefixIRI |
ORDO:Orphanet_225686
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|
| prefLabel |
Peroxisomal disease with epilepsy
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|
| subClassOf |
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| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0016398 | KTAO | LOOM |
| http://www.limics.org/hrdo/rdfns#pat_id_19011 | HRDO | LOOM |