Online Mendelian Inheritance in Man - PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614866 http://purl.bioontology.org/ontology/OMIM/614866
Preferred Name	PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
Synonyms	CGF CG5 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10 CG10 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F PBD5A
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CGF CG5 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 5 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 10 CG10 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F PBD5A See more See less
prefLabel	PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
Gene Symbol	PEX2 PBD5A PBD5B PMP35 PAF1 PXMP3 See more See less
Scope Statement	Death in infancy or early childhood [MISCELLANEOUS] Caused by mutation in the peroxisome biogenesis factor 2 gene (PEX2, 170993.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU001605 http://purl.bioontology.org/ontology/OMIM/MTHU015115 http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU000511 http://purl.bioontology.org/ontology/OMIM/MTHU050811 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU050818 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000576 http://purl.bioontology.org/ontology/OMIM/MTHU003365 http://purl.bioontology.org/ontology/OMIM/MTHU034340 http://purl.bioontology.org/ontology/OMIM/MTHU050813 http://purl.bioontology.org/ontology/OMIM/MTHU024316 http://purl.bioontology.org/ontology/OMIM/MTHU037135 http://purl.bioontology.org/ontology/OMIM/MTHU012954 http://purl.bioontology.org/ontology/OMIM/MTHU050817 http://purl.bioontology.org/ontology/OMIM/MTHU038574 http://purl.bioontology.org/ontology/OMIM/MTHU050812 http://purl.bioontology.org/ontology/OMIM/MTHU001974 http://purl.bioontology.org/ontology/OMIM/MTHU001153 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU013973 http://purl.bioontology.org/ontology/OMIM/MTHU002997 http://purl.bioontology.org/ontology/OMIM/MTHU036841 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU050816 http://purl.bioontology.org/ontology/OMIM/MTHU000066 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU050815 http://purl.bioontology.org/ontology/OMIM/MTHU000257 http://purl.bioontology.org/ontology/OMIM/MTHU001564 http://purl.bioontology.org/ontology/OMIM/MTHU000189 http://purl.bioontology.org/ontology/OMIM/MTHU002374 http://purl.bioontology.org/ontology/OMIM/MTHU050810 http://purl.bioontology.org/ontology/OMIM/MTHU022021 http://purl.bioontology.org/ontology/OMIM/MTHU002075 http://purl.bioontology.org/ontology/OMIM/MTHU000153 http://purl.bioontology.org/ontology/OMIM/MTHU013970 http://purl.bioontology.org/ontology/OMIM/MTHU050814 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU008662 See more See less
tui	T047
Gene Locus	8q21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614866
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3539010 C3553941 C3553942 C3553940
OMIM Entry Type	3
OMIM MimType Value	pound

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