Term Name:	X-linked chondrodysplasia punctata 1
Synonyms:	chondrodystrophia calcificans congenita
Definition:	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.
Ontology:	Human Disease [DOID:0060292]   ( DOID:0060292 )