Mondo Disease Ontology

Last uploaded: January 7, 2025
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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
database_cross_reference

MEDGEN:1648474

DOID:0080476

OMIM:214100

UMLS:C4721541
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
id

MONDO:0008953
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

peroxisome biogenesis disorder 1A (Zellweger)
notation

MONDO:0008953
prefLabel

peroxisome biogenesis disorder 1A (Zellweger)
skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C4721541

http://purl.obolibrary.org/obo/DOID_0080476

https://omim.org/entry/214100

http://identifiers.org/medgen/1648474
treeView

http://purl.obolibrary.org/obo/MONDO_0100259
excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019234
subClassOf

http://purl.obolibrary.org/obo/MONDO_0100259
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