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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, Type II
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Accession:DOID:9004806 term browser browse the term
Synonyms:exact_synonym: TD2;   Thanatophoric Dysplasia, Type 2;   Thanatophoric dysplasia with Kleeblattschaedel;   cloverleaf skull with thanatophoric dwarfism;   thanatophoric dysplasia with straight femurs and cloverleaf skull
 primary_id: MESH:C536508
 alt_id: OMIM:187601


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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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Infant, Newborn, Diseases 1145
          thanatophoric dysplasia 4
            Thanatophoric Dysplasia, Type II 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Skin and Connective Tissue Diseases 6860
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2300
              Dwarfism 851
                achondroplasia 56
                  thanatophoric dysplasia 4
                    Thanatophoric Dysplasia, Type II 1
paths to the root