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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Preferred Name | Zellweger spectrum disorders | |
| Synonyms |
Zellweger leukodystrophy ZWS cerebrohepatorenal syndrome Zellweger syndrome congenital iron overload Zellweger spectrum disorders ZS |
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| Definitions |
The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019609 |
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| comment |
Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61
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| altLabel |
Zellweger leukodystrophy ZWS cerebrohepatorenal syndrome Zellweger syndrome congenital iron overload Zellweger spectrum disorders ZS
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|
| definition |
The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61
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| has_exact_synonym |
ZWS cerebrohepatorenal syndrome Zellweger syndrome congenital iron overload Zellweger spectrum disorders ZS
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| has_related_synonym |
Zellweger leukodystrophy
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| IAO_0000233 | ||
| label |
Zellweger spectrum disorders
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| prefixIRI |
MONDO:0019609
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| prefLabel |
Zellweger spectrum disorders
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| textual definition |
The most severe variant seen in the peroxisome biogenesis disorders that is characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019234 http://purl.obolibrary.org/obo/MONDO_0100191 http://purl.obolibrary.org/obo/MONDO_0015327 |
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| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019609 | MONDO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019609 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019609 | KTAO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019609 | EFO | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019609 | MONDO | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0019609 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0019609 | EFO | LOOM |