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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:Infantile Liver Failure Syndrome 3
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Accession:DOID:9008663 term browser browse the term
Synonyms:exact_synonym: ILFS3
 primary_id: OMIM:618641
For additional species annotation, visit the Alliance of Genome Resources.


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Infantile Liver Failure Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: INFANTILE LIVER FAILURE SYNDROME 3
ClinVar Annotator: match by term: Infantile liver failure syndrome 3
OMIM
ClinVar
PMID:25050558 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31204009 NCBI chr 4:11,319,416...11,355,773
Ensembl chr 4:11,320,955...11,355,736
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      infantile liver failure syndrome 4
        Infantile Liver Failure Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      gastrointestinal system disease 6059
        hepatobiliary disease 2557
          liver disease 2460
            Hepatic Insufficiency 143
              Liver Failure 135
                Acute Liver Failure 85
                  infantile liver failure syndrome 4
                    Infantile Liver Failure Syndrome 3 1
paths to the root