autosomal dominant chondrodysplasia punctata

Term ID

DOID:0060293

Synonyms

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

References

• ICD10CM:Q77.3
• MIM:118650
• MIM:118651
• MIM:602497
• ORDO:79344

Ontology

Human Disease   ( DOID:0060293 )