| Metadata | |
|---|---|
| ID | DOID:0111588 |
| Name | Greenberg dysplasia |
| 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. https://ghr.nlm.nih.gov/condition/greenberg-dysplasia, https://www.ncbi.nlm.nih.gov/pubmed/18382993 |
| Xrefs |
SNOMEDCT_US_2023_03_01:389261002 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive lethal chondrodystrophy with congenital hydrops [EXACT] GRBGD [EXACT] 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] |
| Parent Relationships |