Details of Disease | DrugMAP

General Information of Disease (ID: DISDBTYN)

Disease Name	Epiphyseal dysplasia, multiple, 6
Synonyms	multiple epiphyseal dysplasia 6; EDM6; epiphyseal dysplasia, multiple, 6; COL9A1 multiple epiphyseal dysplasia (disease); multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1; epiphyseal dysplasia, multiple, type 6
Definition	Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene.
Disease Hierarchy	DISH640Y: Multiple epiphyseal dysplasia due to collagen 9 anomaly DIS5FZLR: Multiple epiphyseal dysplasia DISDBTYN: Epiphyseal dysplasia, multiple, 6
Disease Identifiers	MONDO ID MONDO_0013591 UMLS CUI C2675767 OMIM ID 614135 MedGen ID 436517

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
COL9A1	OTWBR27Y	Definitive	Autosomal dominant	[1]
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References

1	A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. Am J Hum Genet. 2001 Nov;69(5):969-80. doi: 10.1086/324023. Epub 2001 Sep 14.