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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 the COL2A1 gene on chromosome 12q13.11. (DO)
Synonyms:exact_synonym: PLSD-T;   PLSD-TL;   PLSDT;   Platyspondylic Chondrodysplasia, Torrance-Luton Type;   Platyspondylic Lethal Skeletal Dysplasia, Torrance Type;   Platyspondylic Skeletal Dysplasia, Torrance Type;   lethal short-limbed platyspondylic dwarfism, Torrance type;   lethal skeletal dysplasia;   platyspondylic dysplasia, Torrance-Luton type;   thanatophoric dysplasia, Torrance variant
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4galt7 beta-1,4-galactosyltransferase 7 ISO ClinVar Annotator: match by term: Lethal skeletal dysplasia ClinVar PMID:1221956 PMID:1640425 PMID:15211654 PMID:18158310 PMID:20691685 More... NCBI chrNW_004624733:12,438,287...12,455,896 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant OMIM
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    Developmental Disease 12291
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11532
        Infant, Newborn, Diseases 1088
          thanatophoric dysplasia 4
            Torrance type platyspondylic dysplasia 2
Path 2
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      Skin and Connective Tissue Diseases 6302
        connective tissue disease 4910
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                achondroplasia 50
                  thanatophoric dysplasia 4
                    Torrance type platyspondylic dysplasia 2
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