Greenberg dysplasia

Summary

DOID:0111588 - Greenberg dysplasia

Disease 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: lbr

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), inherited metabolic disorder (is_a)