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Mondo Disease Ontology
| 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 |
|
| 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
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|
| database_cross_reference |
MEDGEN:21958 SCTID:88469006 GARD:7917 NORD:1876 MESH:D015211 ICD10CM:E71.510 NANDO:1200760 Orphanet:912 UMLS:C0043459 NCIT:C85239 DOID:905
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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.
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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 | ||
| id |
MONDO:0019609
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder |
|
| label |
Zellweger spectrum disorders
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|
| notation |
MONDO:0019609
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|
| prefLabel |
Zellweger spectrum disorders
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| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_912 http://identifiers.org/mesh/D015211 http://purl.bioontology.org/ontology/ICD10CM/E71.510 http://purl.obolibrary.org/obo/NCIT_C85239 http://identifiers.org/snomedct/88469006 http://linkedlifedata.com/resource/umls/id/C0043459 |
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| treeView | ||
| excluded subClassOf | ||
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| Mapping To | Ontology | Source |
|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0019609 | CCONT | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019609 | DOVES | 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 | CCONT | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0019609 | DOVES | LOOM |
| http://purl.obolibrary.org/obo/MONDO_0019609 | EFO | LOOM |