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Term:Torrance type platyspondylic dysplasia
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Accession:DOID:0111508 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Lethal Short-Limbed Platyspondylic Dwarfism, Torrance Type;   Lethal Skeletal Dysplasia;   PLSD-T;   PLSD-TL;   PLSDT;   Platyspondylic Chondrodysplasia, Torrance-Luton Type;   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type;   Platyspondylic Skeletal Dysplasia, Torrance Type;   Thanatophoric Dysplasia, Torrance Variant;   platyspondylic dysplasia, Torrance-Luton type
 related_synonym: PLSDL;   Platyspondylic Lethal Skeletal Dysplasia, Luton Type;   Thanatophoric Dysplasia, Luton Variant
 primary_id: MESH:C563627
 alt_id: OMIM:151210
 xref: GARD:4382;   ORDO:85166
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Torrance type platyspondylic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:8554872
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        Infant, Newborn, Diseases 416
          thanatophoric dysplasia 4
            Torrance type platyspondylic dysplasia 2
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      Skin and Connective Tissue Diseases 5087
        connective tissue disease 3778
          bone disease 3286
            bone development disease 1089
              Dwarfism 313
                achondroplasia 11
                  thanatophoric dysplasia 4
                    Torrance type platyspondylic dysplasia 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.