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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:acrofacial dysostosis, Patagonia type
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Accession:DOID:0060385 term browser browse the term
Definition:An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. (DO)
Synonyms:exact_synonym: Palagonia type of acrofacial dysostosis
 primary_id: MESH:C538185
 alt_id: OMIM:601829;   RDO:0004128
 xref: ORDO:1787

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Path 1
Term Annotations click to browse term
  disease 16063
    Stomatognathic Diseases 1244
      tooth disease 406
        Tooth Abnormalities 269
          Supernumerary Tooth 1
            acrofacial dysostosis, Patagonia type 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13822
      Skin and Connective Tissue Diseases 6325
        connective tissue disease 4919
          bone disease 3598
            bone development disease 2150
              dysostosis 535
                synostosis 350
                  craniosynostosis 292
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        acrofacial dysostosis, Patagonia type 0
paths to the root