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Greenberg dysplasia
Summary
- Synonym
-
- GRBGD
- Greenberg skeletal dysplasia
- HEM dysplasia
- Skeletal dysplasia, Greenberg type
- autosomal recessive lethal chondrodystrophy with congenital hydrops
- hydrops, ectopic calcification, moth-eaten skeletal dysplasia
- hydrops-ectopic calcification-motheaten syndrome
- 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.
- Super Class
- autosomal recessive disease inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0111588
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
