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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:Femoral Facial Syndrome
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Accession:DOID:9003239 term browser browse the term
Synonyms:exact_synonym: FFS;   FHUFS;   Femoral dysgenesis, bilateral;   Femoral dysgenesis, bilateral-Robin anomaly;   Femoral hypoplasia-unusual facies syndrome
 xref: GARD:61;   MESH:C537916;   MONDO:0007604;   OMIM:134780;   ORDO:1988



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Femoral Facial Syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        Congenital Abnormalities 7577
          Musculoskeletal Abnormalities 3303
            Craniofacial Abnormalities 2657
              Maxillofacial Abnormalities 309
                Jaw Abnormalities 263
                  Weissenbacher-Zweymuller syndrome 47
                    Femoral Facial Syndrome 0
paths to the root