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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 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Infant, Newborn, Diseases 1073
          thanatophoric dysplasia 4
            Thanatophoric Dysplasia Glasgow Variant 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      Skin and Connective Tissue Diseases 6452
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2181
              Dwarfism 810
                achondroplasia 52
                  thanatophoric dysplasia 4
                    Thanatophoric Dysplasia Glasgow Variant 0
paths to the root