WormBase Tree Display for DO_term: DOID:0112298
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| DOID:0112298 | Name | spondylometaphyseal dysplasia Sedaghatian type | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | SMDS | |||
| Sedaghatian chondrodysplasia | |||||
| congenital lethal metaphyseal chondrodysplasia | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112295 | |||||
| DB_info | Database | OMIM | disease | 250220 | |
| Attribute_of | Gene_by_orthology | WBGene00009165 | |||
| WBGene00011045 | |||||
| WBGene00019846 | |||||
| WBGene00020373 |
