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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

OMIM:118650

OMIM:118651

OMIM:602497

ORDO:79344

Subsets

DO_rare_slim

Parent Relationships

is_a chondrodysplasia punctata

is_a autosomal dominant disease

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