| Metadata | |
|---|---|
| ID | DOID:0111508 |
| Name | Torrance type platyspondylic dysplasia |
| Definition | An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. https://www.ncbi.nlm.nih.gov/pubmed/14729840, https://www.ncbi.nlm.nih.gov/pubmed/448481 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
lethal short-limbed platyspondylic dwarfism, Torrance type [EXACT] platyspondylic dysplasia, Torrance-Luton type [EXACT] platyspondylic lethal skeletal dysplasia, Torrance type [EXACT] PLSD-T [EXACT] PLSDT [EXACT] thanatophoric dysplasia, Torrance variant [EXACT] |
| Parent Relationships |