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Mondo Disease Ontology
Last uploaded:
January 7, 2025
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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 |
|
| Definitions |
Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0100259 |
|
| 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 | ||
| id |
MONDO:0100259
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
peroxisome biogenesis disorder due to PEX1 defect
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|
| notation |
MONDO:0100259
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|
| prefLabel |
peroxisome biogenesis disorder due to PEX1 defect
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| terms_creator | ||
| treeView | ||
| subClassOf |
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|---|---|---|---|---|
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0100259 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0100259 | DOVES | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0100259 | EFO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0100259 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0100259 | DOVES | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0100259 | EFO | LOOM |