Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614887
http://purl.bioontology.org/ontology/OMIM/614887
Preferred Name

PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
Synonyms
CGK
PBD13A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP K
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CGK
PBD13A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP K
prefLabel
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
Gene Symbol
PBD13A
PEX14
Scope Statement
Caused by mutation in the peroxisome biogenesis factor 14 gene (PEX14, 601791.0001) [MOLECULAR BASIS]
Based on detailed clinical information provided on 1 patient (last curated September 2016) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU015115
http://purl.bioontology.org/ontology/OMIM/MTHU036519
http://purl.bioontology.org/ontology/OMIM/MTHU000229
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/MTHU055129
http://purl.bioontology.org/ontology/OMIM/MTHU001311
http://purl.bioontology.org/ontology/OMIM/MTHU055128
http://purl.bioontology.org/ontology/OMIM/MTHU040939
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU055083
http://purl.bioontology.org/ontology/OMIM/MTHU055127
http://purl.bioontology.org/ontology/OMIM/MTHU001745
http://purl.bioontology.org/ontology/OMIM/MTHU034688
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tui
T047
Gene Locus
1p36.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614887
Semantic type UMLS property
Has inheritance type
cui
C3554004
C1866257
OMIM Entry Type
3
OMIM MimType Value
pound
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