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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:thanatophoric dysplasia
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Accession:DOID:13481 term browser browse the term
Definition:An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. (DO)
Synonyms:exact_synonym: Thanatophoric Dwarfism;   Thanatophoric Dwarfisms;   thanatophoric dysplasias;   thanatophoric short stature
 primary_id: MESH:D013796
 xref: GARD:85;   ICD10CM:Q77.1;   NCI:C85187;   ORDO:1860;   ORDO:2655;   ORDO:93274;   ORDO:93275
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
thanatophoric dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO DNA:missense mutation:exon:p.S365C (mouse)
protein:increased expression:necleus,chondrocyte:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19855393 PMID:10073901 PMID:11181569 PMID:9302269 RGD:2289863, RGD:12910972, RGD:11568030 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISS OMIM:187600 | OMIM:187601 | OMIM:273680 MouseDO NCBI chr 5:149,677,437...149,778,594
Ensembl chr 5:149,677,476...149,778,594 		JBrowse link
Thanatophoric Dysplasia, Type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7773297 PMID:8589699 PMID:8723106 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
Thanatophoric Dysplasia, Type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Thanatophoric dysplasia with Kleeblattschaedel | ClinVar Annotator: match by term: Thanatophoric dysplasia, type 2 OMIM
ClinVar		 PMID:1908846 PMID:7647778 PMID:7773297 PMID:8589699 PMID:8723106 More... NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
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 chr17:9,018,514...9,027,591
Ensembl chr17:9,018,935...9,027,573 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO DNA:mutation:cds:c.44406A>C (p.D1469A)(mouse)
ClinVar Annotator: match by term: Platyspondylic dysplasia, Torrance type | ClinVar Annotator: match by term: Thanatophoric dysplasia torrance variant		 OMIM
ClinVar
RGD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... RGD:11667102 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        Infant, Newborn, Diseases 1236
          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 I 1
            Thanatophoric Dysplasia, Type II 1
            Torrance type platyspondylic dysplasia 2
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      Skin and Connective Tissue Diseases 7435
        connective tissue disease 5735
          bone disease 4262
            bone development disease 2282
              Dwarfism 866
                achondroplasia 57
                  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 I 1
                    Thanatophoric Dysplasia, Type II 1
                    Torrance type platyspondylic dysplasia 2
paths to the root