Human genes for X-linked chondrodysplasia punctata 1
X-linked chondrodysplasia punctata 1 [DOID:0060292]
A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.
Synonyms: X-linked chondrodysplasia punctata 1, DOID:0060292, Xlinked chondrodysplasia punctata 1, chondrodystrophia calcificans congenita, chondrodystrophia calcificans congenitas