Search Ontology:
Human Disease
spondylometaphyseal dysplasia Sedaghatian type
- Term ID
- DOID:0112298
- Synonyms
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- 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
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- GARD:4993
- MESH:C535798
- MIM:250220
- ORDO:93317
- UMLS_CUI:C1855229
- Ontology
- Human Disease ( DOID:0112298 )
- is a type of
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Genes Involved
Zebrafish Models