Human genes for Greenberg dysplasia
Greenberg dysplasia [DOID:0111588]
An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12.
Synonyms: Greenberg dysplasia, DOID:0111588, Greenberg dysplasias, autosomal recessive lethal chondrodystrophy with congenital hydrops, GRBGD ...