Details of Disease | DrugMAP

General Information of Disease (ID: DISU9RLP)

Disease Name	X-linked chondrodysplasia punctata
Synonyms	X-linked dominant chondrodysplasia punctata; chondrodysplasia punctata, X-linked dominant; chondrodystrophia calcificans congenita; chondrodysplasia punctata, X-linked; CPXD
Definition	X-linked form of chondrodysplasia punctata.
Disease Hierarchy	DISERVGO: Chondrodysplasia punctata DISOR45N: Non-rhizomelic chondrodysplasia punctata DIS3PN9X: X-linked disease DIS91IFI: Sterol biosynthesis disorder DISU9RLP: X-linked chondrodysplasia punctata
Disease Identifiers	MONDO ID MONDO_0010556 UMLS CUI C0263627 MedGen ID 538019 SNOMED CT ID 66924005

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	Strong	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NSDHL	OTK3EJFD	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

References

1	Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of x-linked dominant chondrodysplasia punctata (Conradi-Hnermann-Happle syndrome).Am J Dermatopathol. 2004 Feb;26(1):53-8. doi: 10.1097/00000372-200402000-00007.
2	Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme.Mol Genet Metab. 2005 Jan;84(1):48-60. doi: 10.1016/j.ymgme.2004.08.007.