Term Name:	spondylometaphyseal dysplasia Sedaghatian type
Synonyms:	congenital lethal metaphyseal chondrodysplasia, Sedaghatian chondrodysplasia, SMDS
Definition:	A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3.
Ontology:	Human Disease [DOID:0112298]   ( DOID:0112298 )