Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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

closeMatch

http://linkedlifedata.com/resource/umls/id/C1865804

http://linkedlifedata.com/resource/umls/id/C1865803

database_cross_reference

DOID:0080476

OMIM:214100

disease has basis in dysfunction of

http://identifiers.org/hgnc/8850

exactMatch

http://identifiers.org/omim/214100

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

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

id

MONDO:0008953

imported from

http://purl.obolibrary.org/obo/mondo.owl

label

peroxisome biogenesis disorder 1A (Zellweger)

notation

MONDO:0008953

prefLabel

peroxisome biogenesis disorder 1A (Zellweger)

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019609

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