DO_rare_slim has material basis in autosomal recessive disease Greenberg dysplasia disease_ontology DOID:0111588 UMLS_CUI:C2931048 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. MESH:C535858 ORDO:1426 GARD:8754 GRBGD HEM dysplasia SNOMEDCT_US_2025_09_01:389261002 MIM:215140 Greenberg skeletal dysplasia Skeletal dysplasia, Greenberg type autosomal recessive lethal chondrodystrophy with congenital hydrops hydrops, ectopic calcification, moth-eaten skeletal dysplasia hydrops-ectopic calcification-motheaten syndrome inherited metabolic disorder autosomal recessive inheritance