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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



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      primary immunodeficiency disease 4144
        Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            skin disease 3960
              vascular skin disease 200
                Livedo Reticularis 12
                  Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
paths to the root