Greenberg dysplasia (DOID:0111588)
Alliance: disease page
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
Alt IDs: OMIM:215140, MESH:C535858, ORDO:1426, UMLS_CUI:C2931048
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.