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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 Hofkens Fabry Syndrome
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Accession:DOID:9003662 term browser browse the term
Synonyms:exact_synonym: ulna hypoplasia;   ulnar hypoplasia;   upper limb mesomelic dysplasia
 primary_id: MESH:C538069
 alt_id: OMIM:191440


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10886
      Fryns Hofkens Fabry 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
            Congenital Limb Deformities 1023
              Congenital Upper Extremity Deformities 214
                Fryns Hofkens Fabry Syndrome 0
paths to the root