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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Lysosomal disease with epilepsy | |
| Synonyms |
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| ID |
http://www.orpha.net/ORDO/Orphanet_225681 |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=225681 |
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| hasDbXref |
UMLS:C5680898
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| label |
Lysosomal disease with epilepsy
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| notation |
ORPHA:225681 Category
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| prefixIRI |
ORDO:Orphanet_225681
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| prefLabel |
Lysosomal 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_0016397 | KTAO | LOOM |
| http://www.limics.org/hrdo/rdfns#pat_id_19010 | HRDO | LOOM |