_:vb50938599 . "NT MGI."^^ . _:vb50938599 . "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity."^^ . . _:vb50938599 . "ORDO:35173"^^ . "MESH:C580533"^^ . "chondrodystrophia calcificans congenita"@en . "OMIM:302950"^^ . "X-linked chondrodysplasia punctata 1"^^ . _:vb50938599 . . _:vb50938599 . "emitraka"^^ . . "disease_ontology"^^ . "2015-02-05T16:35:34Z"^^ . . "DOID:0060292"^^ . . "ICD10CM:Q77.3"^^ .