Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609325 http://purl.bioontology.org/ontology/OMIM/609325
Preferred Name	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MINIEPIPHYSES
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU038956 http://purl.bioontology.org/ontology/OMIM/MTHU000876 http://purl.bioontology.org/ontology/OMIM/MTHU000877 http://purl.bioontology.org/ontology/OMIM/MTHU000587 http://purl.bioontology.org/ontology/OMIM/MTHU000878 http://purl.bioontology.org/ontology/OMIM/MTHU000882 http://purl.bioontology.org/ontology/OMIM/MTHU000896 http://purl.bioontology.org/ontology/OMIM/MTHU000881 http://purl.bioontology.org/ontology/OMIM/MTHU000879 See more See less
tui	T047
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	609325
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1836307
OMIM Entry Type	5
OMIM MimType Value	perc

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