| Metadata | |
|---|---|
| ID | DOID:0112298 |
| Name | spondylometaphyseal dysplasia Sedaghatian type |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital lethal metaphyseal chondrodysplasia [EXACT] Sedaghatian chondrodysplasia [EXACT] SMDS [EXACT] |
| Parent Relationships |