Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614873 http://purl.bioontology.org/ontology/OMIM/614873
Preferred Name	PEROXISOME BIOGENESIS DISORDER 7B
Synonyms	PBD7B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PBD7B
prefLabel	PEROXISOME BIOGENESIS DISORDER 7B
Gene Symbol	PBD7B PBD7A PEX26
Scope Statement	Survival to ages 4-12 years [MISCELLANEOUS] Caused by mutation in the peroxisome biogenesis factor 26 gene (PEX26, 608666.0001) [MOLECULAR BASIS] Based on studies of cell lines [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU057505 http://purl.bioontology.org/ontology/OMIM/MTHU057506
tui	T047
Gene Locus	22q11.21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614873
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3553951
OMIM Entry Type	3
OMIM MimType Value	pound

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