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Human Disease

Greenberg dysplasia

Term ID
DOID:0111588
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. (2)
References
Ontology
Human Disease   ( DOID:0111588 )
Relationships
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Genes Involved
Zebrafish Models