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spondylometaphyseal dysplasia Sedaghatian type
Summary
- Synonym
-
- SMDS
- Sedaghatian chondrodysplasia
- congenital lethal metaphyseal chondrodysplasia
- 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.
- Super Class
- autosomal recessive disease spondylometaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0112298
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
