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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
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        Hand Deformities 100
          Congenital Hand Deformities 97
            acrofacial dysostosis, Patagonia type 0
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Skin and Connective Tissue Diseases 6743
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              dysostosis 440
                synostosis 288
                  craniosynostosis 232
                    Crouzon syndrome 28
                      Mandibulofacial Dysostosis 22
                        acrofacial dysostosis, Patagonia type 0
paths to the root