Details of Disease | DrugMAP

General Information of Disease (ID: DIS34HL9)

Disease Name	Obsolete chondrodysplasia punctata 2, X-linked dominant
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS34HL9: Obsolete chondrodysplasia punctata 2, X-linked dominant

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EBP	TT4VQZX	Definitive	X-linked	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EBP	OTSMGKXQ	Definitive	X-linked	[1]
------------------------------------------------------------------------------------

References

1	Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hnermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2.