Term Name: | Greenberg dysplasia |
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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 ) |