Online Mendelian Inheritance in Man - PEROXISOME BIOGENESIS DISORDER 8B - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/614877 http://purl.bioontology.org/ontology/OMIM/614877
Preferred Name	PEROXISOME BIOGENESIS DISORDER 8B
Synonyms	PBD8B
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PBD8B
prefLabel	PEROXISOME BIOGENESIS DISORDER 8B
Gene Symbol	PBD8A PEX16 PBD8B
Scope Statement	Caused by mutation in the peroxisome biogenesis factor 16 gene (PEX16, 603360.0003) [MOLECULAR BASIS] Patients become wheelchair bound [MISCELLANEOUS] Normal growth and development in first year of life [MISCELLANEOUS] Progressive disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006506 http://purl.bioontology.org/ontology/OMIM/MTHU069467 http://purl.bioontology.org/ontology/OMIM/MTHU055086 http://purl.bioontology.org/ontology/OMIM/MTHU055074 http://purl.bioontology.org/ontology/OMIM/MTHU055070 http://purl.bioontology.org/ontology/OMIM/MTHU012810 http://purl.bioontology.org/ontology/OMIM/MTHU055080 http://purl.bioontology.org/ontology/OMIM/MTHU055078 http://purl.bioontology.org/ontology/OMIM/MTHU055087 http://purl.bioontology.org/ontology/OMIM/MTHU055072 http://purl.bioontology.org/ontology/OMIM/MTHU001907 http://purl.bioontology.org/ontology/OMIM/MTHU055082 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU055081 http://purl.bioontology.org/ontology/OMIM/MTHU001236 http://purl.bioontology.org/ontology/OMIM/MTHU000616 http://purl.bioontology.org/ontology/OMIM/MTHU055084 http://purl.bioontology.org/ontology/OMIM/MTHU000282 http://purl.bioontology.org/ontology/OMIM/MTHU055071 http://purl.bioontology.org/ontology/OMIM/MTHU055088 http://purl.bioontology.org/ontology/OMIM/MTHU055073 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU055077 http://purl.bioontology.org/ontology/OMIM/MTHU055085 http://purl.bioontology.org/ontology/OMIM/MTHU055075 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU055083 http://purl.bioontology.org/ontology/OMIM/MTHU055076 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU055089 http://purl.bioontology.org/ontology/OMIM/MTHU009393 http://purl.bioontology.org/ontology/OMIM/MTHU000235 See more See less
tui	T047
Gene Locus	11p12-p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	614877
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3553960
OMIM Entry Type	3
OMIM MimType Value	pound

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