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ONTOLOGY REPORT - ANNOTATIONS


Term:thanatophoric dysplasia
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Accession:DOID:13481 term browser browse the term
Definition:A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
Synonyms:exact_synonym: Thanatophoric Dwarfism;   Thanatophoric Dwarfisms;   Thanatophoric Dysplasias;   Thanatophoric Short Stature
 primary_id: MESH:D013796;   RDO:0002111
 xref: GARD:85;   ORDO:1860;   ORDO:2655;   ORDO:93274;   ORDO:93275
For additional species annotation, visit the Alliance of Genome Resources.


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thanatophoric dysplasia 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:2289863
RGD:8554872
RGD:12910972
RGD:11568030
RGD:11554173
G Hspg2 heparan sulfate proteoglycan 2 JBrowse link 5 155,812,096 155,913,751 RGD:13592920
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:11667102
RGD:8554872
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
Thanatophoric Dysplasia, Type I 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:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Infant, Newborn, Diseases 403
          thanatophoric dysplasia 3
            Kozlowski Warren Fisher Syndrome 0
            Larsen-Like Syndrome, Lethal Type 0
            Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 1
            Short Limb Dwarf Lethal Colavita Kozlowski Type 0
            Skeletal Dysplasia, San Diego Type 0
            Thanatophoric Dysplasia Glasgow Variant 0
            Thanatophoric Dysplasia, Type 2 1
            Thanatophoric Dysplasia, Type I 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              Dwarfism 300
                achondroplasia 10
                  thanatophoric dysplasia 3
                    Kozlowski Warren Fisher Syndrome 0
                    Larsen-Like Syndrome, Lethal Type 0
                    Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 1
                    Short Limb Dwarf Lethal Colavita Kozlowski Type 0
                    Skeletal Dysplasia, San Diego Type 0
                    Thanatophoric Dysplasia Glasgow Variant 0
                    Thanatophoric Dysplasia, Type 2 1
                    Thanatophoric Dysplasia, Type I 1
paths to the root