chondrodysplasia punctata
A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
MONDO:0018230
skeletal dysplasia
is_a
CDP
exact
chondrodysplasia calcificans congenita
exact
chondrodysplasia punctata (stippled epiphyses) Group
exact
chondrodysplasia punctata congenita
exact
SPBC3F6.02c SPBC16G5.18 SPAC17D4.01 SPBC725.07