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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | peroxisome biogenesis disorder due to PEX1 defect | |
| Synonyms |
peroxisome biogenesis disorder due to PEX1 defect PEX1 related Zellweger spectrum disorder |
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| Definitions |
Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0100259 |
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| altLabel |
peroxisome biogenesis disorder due to PEX1 defect PEX1 related Zellweger spectrum disorder
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| created_by | ||
| definition |
Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.
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| has_exact_synonym |
peroxisome biogenesis disorder due to PEX1 defect PEX1 related Zellweger spectrum disorder
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| IAO_0000233 | ||
| label |
peroxisome biogenesis disorder due to PEX1 defect
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| prefixIRI |
MONDO:0100259
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| prefLabel |
peroxisome biogenesis disorder due to PEX1 defect
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| textual definition |
Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.
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| subClassOf |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0100259 | MONDO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0100259 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0100259 | EFO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0100259 | MONDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0100259 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0100259 | EFO | LOOM |