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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
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 17205
    syndrome 8125
      Fryns Syndrome 0
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                diaphragm disease 111
                  Diaphragmatic Hernia 110
                    Fryns Syndrome 0
paths to the root