OBO ID: DOID:0111588
Term Name: Greenberg dysplasia Search Ontology:
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
is a type of:
OTHER Greenberg dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LBR Greenberg skeletal dysplasia 215140
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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