DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for X-linked chondrodysplasia punctata 1

X-linked chondrodysplasia punctata 1 [DOID:0060292]

A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22.

Synonyms:  X-linked chondrodysplasia punctata 1,  DOID:0060292,  Xlinked chondrodysplasia punctata 1,  chondrodystrophia calcificans congenita,  chondrodystrophia calcificans congenitas