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Human Disease

spondylometaphyseal dysplasia Sedaghatian type

Term ID
DOID:0112298
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. https://pubmed.ncbi.nlm.nih.gov/24706940/
References
Ontology
Human Disease   ( DOID:0112298 )
Relationships
is a type of
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Genes Involved
Zebrafish Models