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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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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 ClinVar
OMIM
PMID:21157497, PMID:23230001, PMID:23263490, PMID:23447401, PMID:23636398, PMID:24033266, PMID:25079317, PMID:25529843, PMID:25559809, PMID:25642631, PMID:25741868, PMID:25860647, PMID:25948378, PMID:26467025, PMID:26822575, PMID:28492532, PMID:29120461, PMID:29987844, PMID:30049826, PMID:30194485 NCBI chr12:52,403,533...52,452,075
Ensembl chr12:52,403,529...52,452,040
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            vascular skin disease 154
              Livedo Reticularis 9
                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.