|OBO ID: DOID:0111588|
|Term Name:||Greenberg dysplasia||Search Ontology:|
|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)|
|Ontology:||Human Disease (DOID:0111588)|
|is a type of:||
OTHER Greenberg dysplasia PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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