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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, Catania type
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Accession:DOID:0060384 term browser browse the term
Definition:An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. (DO)
Synonyms:exact_synonym: Acrofacial Dysostosis Catania Form;   Opitz Mollica Sorge syndrome;   Opitz-Caltabiano syndrome
 primary_id: MESH:C538182
 alt_id: OMIM:101805;   RDO:0004125
 xref: GARD:494;   ORDO:1786
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 14051
    Stomatognathic Diseases 963
      Stomatognathic System Abnormalities 362
        Tooth Abnormalities 145
          Supernumerary Tooth 1
            acrofacial dysostosis, Catania type 0
Path 2
Term Annotations click to browse term
  disease 14051
    disease of anatomical entity 13684
      Skin and Connective Tissue Diseases 5210
        connective tissue disease 3944
          bone disease 2667
            bone development disease 1389
              dysostosis 389
                synostosis 242
                  craniosynostosis 188
                    Crouzon syndrome 23
                      Mandibulofacial Dysostosis 17
                        acrofacial dysostosis, Catania type 0
paths to the root