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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.

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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 ClinVar Annotator: match by term: Thanatophoric dwarfism ClinVar PMID:7773297 PMID:8599935 PMID:8754806 PMID:8845844 PMID:9207791 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Hspg2 heparan sulfate proteoglycan 2 ISO OMIM:187600 | OMIM:187601 | OMIM:273680 MouseDO NCBI chrNW_004624764:6,639,152...6,736,161
Ensembl chrNW_004624764:6,640,087...6,708,130 		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:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		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:7649548 PMID:7670477 PMID:7702086 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		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 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 14102
    Developmental Disease 12293
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11525
        Infant, Newborn, Diseases 1088
          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 14102
    disease of anatomical entity 13770
      Skin and Connective Tissue Diseases 6361
        connective tissue disease 4911
          bone disease 3621
            bone development disease 2143
              Dwarfism 787
                achondroplasia 50
                  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