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Experimental Factor Ontology
| Preferred Name | Zellweger spectrum disorders | |
| Synonyms |
Zellweger leukodystrophy Zellweger syndrome Zellweger spectrum disorders cerebrohepatorenal syndrome congenital iron overload ZS ZWS |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019609 |
|
| database_cross_reference |
NCIT:C85239 MESH:D015211 MEDGEN:21958 Orphanet:912 NANDO:1200760 SCTID:88469006 ICD10CM:E71.510 UMLS:C0043459 DOID:905 GARD:7917 NORD:1876
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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.
|
|
| exactMatch |
http://identifiers.org/mesh/D015211 http://purl.bioontology.org/ontology/ICD10CM/E71.510 http://purl.obolibrary.org/obo/NCIT_C85239 http://www.orpha.net/ORDO/Orphanet_912 http://identifiers.org/snomedct/88469006 http://linkedlifedata.com/resource/umls/id/C0043459 |
|
| has_exact_synonym |
Zellweger syndrome Zellweger spectrum disorders cerebrohepatorenal syndrome congenital iron overload ZS ZWS
|
|
| has_related_synonym |
Zellweger leukodystrophy
|
|
| IAO_0000233 | ||
| id |
MONDO:0019609
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
Zellweger spectrum disorders
|
|
| notation |
MONDO:0019609
|
|
| preferred label |
Zellweger spectrum disorders
|
|
| prefLabel |
Zellweger spectrum disorders
|
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| excluded_subClassOf | ||
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
| 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 | DOVES | SAME_URI |
| http://purl.obolibrary.org/obo/MONDO_0019609 | KTAO | 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 | DOVES | LOOM |