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