OBO ID: DOID:0112298 |
Term Name: | spondylometaphyseal dysplasia Sedaghatian type | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0112298 ) |
OTHER spondylometaphyseal dysplasia Sedaghatian type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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