Experimental Factor Ontology

Last uploaded: December 16, 2024
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Preferred Name

peroxisome biogenesis disorder 1A (Zellweger)
Synonyms

Cerebrohepatorenal syndrome

peroxisome biogenesis disorder, complementation group E

peroxisome biogenesis disorder, complementation group 1

PBD1A

Zs

peroxisome biogenesis disorder 1A (Zellweger)
ID

http://purl.obolibrary.org/obo/MONDO_0008953
database_cross_reference

MEDGEN:1648474

OMIM:214100

UMLS:C4721541

DOID:0080476
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
has_exact_synonym

peroxisome biogenesis disorder 1A (Zellweger)
has_related_synonym

Cerebrohepatorenal syndrome

peroxisome biogenesis disorder, complementation group E

peroxisome biogenesis disorder, complementation group 1

PBD1A

Zs
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/2632
id

MONDO:0008953
in_subset

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

http://purl.obolibrary.org/obo/mondo#nord_rare

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

http://purl.obolibrary.org/obo/mondo#gard_rare
label

peroxisome biogenesis disorder 1A (Zellweger)
notation

MONDO:0008953
preferred label

peroxisome biogenesis disorder 1A (Zellweger)
prefLabel

peroxisome biogenesis disorder 1A (Zellweger)
excluded_subClassOf

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

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