Details of Disease

General Information of Disease (ID: DISKEN43)

Disease Name Epiphyseal dysplasia, multiple, 3
Synonyms
multiple epiphyseal dysplasia 3; epiphyseal dysplasia multiple 3; EDM3; epiphyseal dysplasia, multiple, 3, with myopathy; epiphyseal dysplasia, multiple, 3, with or without myopathy; COL9A3 multiple epiphyseal dysplasia (disease); multiple epiphyseal dysplasia (disease) caused by mutation in COL9A3; epiphyseal dysplasia, multiple, 3; epiphyseal dysplasia, multiple, type 3
Definition Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.
Disease Hierarchy
DISH640Y: Multiple epiphyseal dysplasia due to collagen 9 anomaly
DIS5FZLR: Multiple epiphyseal dysplasia
DISKEN43: Epiphyseal dysplasia, multiple, 3
Disease Identifiers
MONDO ID
MONDO_0010964
UMLS CUI
C1832998
OMIM ID
600969
MedGen ID
322091

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL9A3 OTCUJOEK Definitive Autosomal dominant [1]
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References

1 Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia. Am J Med Genet A. 2005 Jan 15;132A(2):181-4. doi: 10.1002/ajmg.a.30411.