Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614885 http://purl.bioontology.org/ontology/OMIM/614885
Preferred Name	PEROXISOME BIOGENESIS DISORDER 11B
Synonyms	PBD11B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PBD11B
prefLabel	PEROXISOME BIOGENESIS DISORDER 11B
Gene Symbol	NALD ZWS PEX13 PBD11B PBD11A
Scope Statement	Based on description of 2 patients (last curated January 2017) [MISCELLANEOUS] Onset of disease precipitated by upper respiratory infection at 16 months of age (in 1 patient) [MISCELLANEOUS] Caused by mutation in the peroxisome biogenesis factor 13 gene (PEX13, 601789.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU055097 http://purl.bioontology.org/ontology/OMIM/MTHU055096 http://purl.bioontology.org/ontology/OMIM/MTHU000967 http://purl.bioontology.org/ontology/OMIM/MTHU032019 http://purl.bioontology.org/ontology/OMIM/MTHU055098 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU055095 http://purl.bioontology.org/ontology/OMIM/MTHU036353 http://purl.bioontology.org/ontology/OMIM/MTHU055099 See more See less
tui	T047
Gene Locus	2p15
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614885
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3554001
OMIM Entry Type	3
OMIM MimType Value	pound

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