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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


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      bone development disease 2307
        dysostosis 578
          acrofacial dysostosis 4
            acrofacial dysostosis, Catania type 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                synostosis 377
                  craniosynostosis 315
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        acrofacial dysostosis, Catania type 0
paths to the root