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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:Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
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Accession:DOID:9007936 term browser browse the term
Synonyms:exact_synonym: FILS
 primary_id: OMIM:615139;   RDO:9000298
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 17435
    syndrome 8262
      primary immunodeficiency disease 2730
        Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        sensory system disease 5712
          skin disease 3002
            vascular skin disease 156
              Livedo Reticularis 9
                Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
paths to the root