Metadata | |
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ID | DOID:0060293 |
Name | autosomal dominant chondrodysplasia punctata |
Definition | A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. https://www.omim.org/entry/118650 |
Xrefs | |
Subsets |
DO_rare_slim |
Parent Relationships |