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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;   ICD10CM:Q77.1;   NCI:C85187;   ORDO:1860;   ORDO:2655;   ORDO:93274;   ORDO:93275
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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
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
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
RGD:8554872
RGD:11667102

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
            Kozlowski Warren Fisher Syndrome 0
            Larsen-Like Syndrome, Lethal Type 0
            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
            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
                    Kozlowski Warren Fisher Syndrome 0
                    Larsen-Like Syndrome, Lethal Type 0
                    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
                    Torrance type platyspondylic dysplasia 2
paths to the root

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