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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 1
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Accession:DOID:0080717 term browser browse the term
Definition:An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. (DO)
Synonyms:exact_synonym: ILFS1;   acute infantile liver failure-multisystemic involvement syndrome
 primary_id: OMIM:615438
 xref: GARD:13114
For additional species annotation, visit the Alliance of Genome Resources.


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infantile liver failure syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Infantile liver failure syndrome 1 ClinVar
OMIM
PMID:22607940, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr18:36,524,013...36,579,471
Ensembl chr18:36,524,007...36,579,403
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      infantile liver failure syndrome 4
        infantile liver failure syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        hepatobiliary disease 0
          liver disease 2413
            Hepatic Insufficiency 139
              Liver Failure 131
                Acute Liver Failure 79
                  infantile liver failure syndrome 4
                    infantile liver failure syndrome 1 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.