Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	peroxisome biogenesis disorder 1A (Zellweger)
Synonyms	peroxisome biogenesis disorder, complementation group E peroxisome biogenesis disorder, complementation group 1 PBD1A Zs Cerebrohepatorenal syndrome peroxisome biogenesis disorder 1A (Zellweger)
ID	http://purl.obolibrary.org/obo/MONDO_0008953
altLabel	peroxisome biogenesis disorder, complementation group E peroxisome biogenesis disorder, complementation group 1 PBD1A Zs Cerebrohepatorenal syndrome peroxisome biogenesis disorder 1A (Zellweger)
has characteristic	http://purl.obolibrary.org/obo/MONDO_0100356
has_exact_synonym	peroxisome biogenesis disorder 1A (Zellweger)
has_related_synonym	peroxisome biogenesis disorder, complementation group E peroxisome biogenesis disorder, complementation group 1 PBD1A Zs Cerebrohepatorenal syndrome
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/2632
label	peroxisome biogenesis disorder 1A (Zellweger)
prefixIRI	MONDO:0008953
prefLabel	peroxisome biogenesis disorder 1A (Zellweger)
subClassOf	http://purl.obolibrary.org/obo/MONDO_0100259

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008953	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008953	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008953	KTAO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008953	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008953	MONDO	LOOM
http://purl.bioontology.org/ontology/OMIM/214100	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0008953	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008953	KTAO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008953	EFO	LOOM