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ONTOLOGY REPORT - ANNOTATIONS


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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Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pole DNA polymerase epsilon, catalytic subunit JBrowse link 12 52,403,533 52,452,075 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      primary immunodeficiency disease 951
        Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          skin disease 2445
            vascular skin disease 147
              Livedo Reticularis 5
                Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.