FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Greenberg dysplasia ID (Ontology) DOID:0111588 (Human Disease)
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.
Also Known As "autosomal recessive lethal chondrodystrophy with congenital hydrops" ; "GRBGD" ; "Greenberg skeletal dysplasia" (for all, see Synonyms field below)
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 Genes
 Greenberg dysplasia       1
 for disease ribbon | Greenberg dysplasia       1
 model of | Greenberg dysplasia       1
Spanning Tree (Parents/Children)
Only view relationship: 
disease of metabolism
 |__inherited metabolic disorder__
autosomal genetic disease         |
 |__autosomal recessive disease___|
genetic disease                   |
 |__inherited metabolic disorder__|
                                  Greenberg dysplasia  1 rec.
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Is a autosomal recessive disease
inherited metabolic disorder
Part of
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Synonyms
  • "autosomal recessive lethal chondrodystrophy with congenital hydrops" EXACT
    "GRBGD" EXACT OMO:0003012
    "Greenberg skeletal dysplasia" EXACT
    "HEM dysplasia" EXACT
    "hydrops, ectopic calcification, moth-eaten skeletal dysplasia" EXACT
    "hydrops-ectopic calcification-motheaten syndrome" EXACT
    "Skeletal dysplasia, Greenberg type" EXACT
Secondary IDs
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GARD:8754
MESH:C535858
MIM:215140
ORDO:1426
SNOMEDCT_US_2023_03_01:389261002
UMLS_CUI:C2931048