loading...| Preferred Name |
Zellweger spectrum disorders |
|
| Synonyms |
ZWS cerebrohepatorenal syndrome Zellweger syndrome congenital iron overload Zellweger spectrum disorders ZS Zellweger leukodystrophy |
|
| Definitions |
Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019609 |
|
| comment |
Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 |
|
| has_exact_synonym |
ZWS cerebrohepatorenal syndrome Zellweger syndrome congenital iron overload Zellweger spectrum disorders ZS |
|
| has_related_synonym |
Zellweger leukodystrophy |
|
| IAO_0000233 | ||
| label |
Zellweger spectrum disorders |
|
| prefixIRI |
MONDO:0019609 |
|
| prefLabel |
Zellweger spectrum disorders |
|
| 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019234 http://purl.obolibrary.org/obo/MONDO_0100191 http://purl.obolibrary.org/obo/MONDO_0015327 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019609 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019609 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019609 | KTAO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0019609 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019609 | MONDO | LOOM |