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Disease Ontology Browser
spondylometaphyseal dysplasia Sedaghatian type (DOID:0112298)
Alliance: disease page
Synonyms: congenital lethal metaphyseal chondrodysplasia; Sedaghatian chondrodysplasia; SMDS
Alt IDs: OMIM:250220, MESH:C535798, ORDO:93317, UMLS_CUI:C1855229
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory