Visualize Submit Comment

Metadata
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	ICD10CM:Q77.3 MIM:118650 MIM:118651 MIM:602497 ORDO:79344
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal dominant disease is_a chondrodysplasia punctata
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance