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Summary Literature (0)
DOID:0112298 - spondylometaphyseal dysplasia Sedaghatian type

Disease Ontology 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.

Synonyms: congenital lethal metaphyseal chondrodysplasia, Sedaghatian chondrodysplasia, SMDS

Xenbase Genes : gpx4


MIM:
MIM:250220 - SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE; SMDS

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), spondylometaphyseal dysplasia (is_a)