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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Facial dysmorphism, immunodeficiency, livedo, and short stature OMIM
ClinVar		 PMID:9536098 PMID:16699561 PMID:17576681 PMID:20091185 PMID:21129811 More... NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    syndrome 10787
      primary immunodeficiency disease 4504
        Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
Path 2
Term Annotations click to browse term
  disease 20983
    Pathological Conditions, Signs and Symptoms 13307
      Signs and Symptoms 10863
        Neurologic Manifestations 10111
          sensory system disease 7131
            skin disease 4323
              vascular skin disease 197
                Livedo Reticularis 12
                  Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
paths to the root