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platyspondylic dysplasia, Torrance type

Disease Summary
Associated Targets (1)
Tbio

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Uniprot Description Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported.
Mondo Term and Equivalent IDs
MONDO:0007895:  platyspondylic dysplasia, Torrance type
DOID:0111508: 
GARD:0004382: 
MESH:C563627: 
Orphanet:85166: 
UMLS:C1835437: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)