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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 COL2A1 on chromosome 12q13.11.
https://www.ncbi.nlm.nih.gov/pubmed/14729840, https://www.ncbi.nlm.nih.gov/pubmed/448481
Xrefs

GARD:4382

MESH:C563627

OMIM:151210

ORDO:85166

UMLS_CUI:C1835437

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

is_a osteochondrodysplasia

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