Online Mendelian Inheritance in Man - RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616716 http://purl.bioontology.org/ontology/OMIM/616716
Preferred Name	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
Synonyms	RCDP5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RCDP5
prefLabel	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
Gene Symbol	PXR1 PEX5 RCDP5 PBD2A PBD2B PTS1R See more See less
Scope Statement	Based on one report of 3 sibs and 1 unrelated patient of Pakistani origin (last curated December 2015) [MISCELLANEOUS] Caused by mutation in the peroxisome biogenesis factor 5 gene (PEX5, 600414.0003) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU052632 http://purl.bioontology.org/ontology/OMIM/MTHU002791 http://purl.bioontology.org/ontology/OMIM/MTHU045544 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU052623 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU052634 http://purl.bioontology.org/ontology/OMIM/MTHU052631 http://purl.bioontology.org/ontology/OMIM/MTHU040907 http://purl.bioontology.org/ontology/OMIM/MTHU052625 http://purl.bioontology.org/ontology/OMIM/MTHU052629 http://purl.bioontology.org/ontology/OMIM/MTHU052624 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU052626 http://purl.bioontology.org/ontology/OMIM/MTHU003449 http://purl.bioontology.org/ontology/OMIM/MTHU000381 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU001788 http://purl.bioontology.org/ontology/OMIM/MTHU052627 http://purl.bioontology.org/ontology/OMIM/MTHU052630 http://purl.bioontology.org/ontology/OMIM/MTHU036917 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU000038 http://purl.bioontology.org/ontology/OMIM/MTHU005153 http://purl.bioontology.org/ontology/OMIM/MTHU001410 http://purl.bioontology.org/ontology/OMIM/MTHU000907 http://purl.bioontology.org/ontology/OMIM/MTHU052633 http://purl.bioontology.org/ontology/OMIM/MTHU052622 http://purl.bioontology.org/ontology/OMIM/MTHU000700 http://purl.bioontology.org/ontology/OMIM/MTHU034897 http://purl.bioontology.org/ontology/OMIM/MTHU001502 http://purl.bioontology.org/ontology/OMIM/MTHU000291 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU052628 http://purl.bioontology.org/ontology/OMIM/MTHU017267 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	12p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616716
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4225237
OMIM Entry Type	3
OMIM MimType Value	pound

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