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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 17445
    Stomatognathic Diseases 1036
      Stomatognathic System Abnormalities 383
        Tooth Abnormalities 155
          Supernumerary Tooth 1
            acrofacial dysostosis, Catania type 0
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Skin and Connective Tissue Diseases 5876
        connective tissue disease 4452
          bone disease 3125
            bone development disease 1423
              dysostosis 390
                synostosis 241
                  craniosynostosis 187
                    Crouzon syndrome 24
                      Mandibulofacial Dysostosis 18
                        acrofacial dysostosis, Catania type 0
paths to the root