Term Name: Greenberg dysplasia
Synonyms: autosomal recessive lethal chondrodystrophy with congenital hydrops, GRBGD, Greenberg skeletal dysplasia, HEM dysplasia, hydrops, ectopic calcification, moth-eaten skeletal dysplasia, hydrops-ectopic calcification-motheaten syndrome, Skeletal dysplasia, Greenberg type
Definition: 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.
Ontology: Human Disease [DOID:0111588]   ( DOID:0111588 )

Relationships
is a type of: autosomal recessive disease inherited metabolic disorder