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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:Fryns Syndrome
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Accession:DOID:9003981 term browser browse the term
Synonyms:exact_synonym: Diaphragmatic hernia, abnormal face, and distal limb anomalies;   FRNS;   Moerman Van den berghe Fryns syndrome;   diaphragmatic hernia-abnormal face-distal limb anomalies syndrome
 primary_id: MESH:C538070
 alt_id: OMIM:229850
 xref: GARD:3699;   NCI:C98932;   ORDO:2059


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Fryns Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      Urogenital Diseases 5137
        Female Urogenital Diseases and Pregnancy Complications 2379
          Female Urogenital Diseases 1960
            female reproductive system disease 1957
              prolapse of female genital organ 180
                enterocele 180
                  Diaphragmatic Hernia 120
                    Fryns Syndrome 0
paths to the root