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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 Glasgow Variant
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Accession:DOID:9005341 term browser browse the term
Synonyms:exact_synonym: Neonatally lethal short-limb skeletal dysplasia, glasgow type
 primary_id: MESH:C536506
 alt_id: OMIM:273680;   RDO:0002110


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        Infant, Newborn, Diseases 1126
          thanatophoric dysplasia 4
            Thanatophoric Dysplasia Glasgow Variant 0
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Skin and Connective Tissue Diseases 6723
        connective tissue disease 5226
          bone disease 3783
            bone development disease 2248
              Dwarfism 842
                achondroplasia 54
                  thanatophoric dysplasia 4
                    Thanatophoric Dysplasia Glasgow Variant 0
paths to the root