Online Mendelian Inheritance in Man - PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614862 http://purl.bioontology.org/ontology/OMIM/614862
Preferred Name	PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
Synonyms	CGC PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP C CG6 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4 PBD4A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 6 CG4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CGC PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP C CG6 PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 4 PBD4A PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP 6 CG4 See more See less
prefLabel	PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
Gene Symbol	PEX6 PXAAA1 PAF2 PDB4B HMLR2 PBD4A See more See less
Scope Statement	Caused by mutation in the peroxisome biogenesis factor 6 gene (PEX6, 601498.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU002014 http://purl.bioontology.org/ontology/OMIM/MTHU055056 http://purl.bioontology.org/ontology/OMIM/MTHU055058 http://purl.bioontology.org/ontology/OMIM/MTHU052660 http://purl.bioontology.org/ontology/OMIM/MTHU055060 http://purl.bioontology.org/ontology/OMIM/MTHU055057 http://purl.bioontology.org/ontology/OMIM/MTHU055059 http://purl.bioontology.org/ontology/OMIM/MTHU010500 http://purl.bioontology.org/ontology/OMIM/MTHU055062 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU055061 http://purl.bioontology.org/ontology/OMIM/MTHU000264 http://purl.bioontology.org/ontology/OMIM/MTHU055055 See more See less
tui	T047
Gene Locus	6p21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614862
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1832232 C3553936 C1832231 C1832230
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display