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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:9536098 PMID:17576681 PMID:19966286 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:28166811 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 16909
    syndrome 7568
      primary immunodeficiency disease 2510
        Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            vascular skin disease 154
              Livedo Reticularis 9
                Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 1
paths to the root