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ONTOLOGY REPORT - ANNOTATIONS


Term:Thanatophoric Dysplasia, Type 2
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Accession:DOID:9004806 term browser browse the term
Synonyms:exact_synonym: Cloverleaf skull with thanatophoric dwarfism;   TD2;   Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull;   Thanatophoric Dysplasia, Type Ii;   Thanatophoric dysplasia with Kleeblattschaedel
 primary_id: MESH:C536508;   RDO:0002113
 alt_id: OMIM:187601
For additional species annotation, visit the Alliance of Genome Resources.


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Thanatophoric Dysplasia, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgfr3 fibroblast growth factor receptor 3 JBrowse link 14 82,272,322 82,287,739 RGD:7240710
RGD:8554872

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
            Thanatophoric Dysplasia, Type 2 1
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
                    Thanatophoric Dysplasia, Type 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.