| Metadata | |
|---|---|
| ID | DOID:0060292 |
| Name | X-linked chondrodysplasia punctata 1 |
| 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. https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
chondrodystrophia calcificans congenita [EXACT] |
| Parent Relationships |