Term Name: chondrodysplasia punctata
Synonyms: Chondrodysplasia punctata congenita
Definition: A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
Ontology: Human Disease [DOID:2581]   ( DOID:2581 )

Relationships
is a type of: monogenic disease syndrome
has subtype: autosomal dominant chondrodysplasia punctata rhizomelic chondrodysplasia punctata X-linked chondrodysplasia punctata 1 X-linked chondrodysplasia punctata 2