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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;   LARS1-RELATED CONDITION;   acute infantile liver failure-multisystemic involvement syndrome
 primary_id: MIM:615438
 xref: GARD:13114

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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 Annotator: match by term: LARS1-related condition OMIM
ClinVar		 PMID:22607940 PMID:25051973 PMID:25326635 PMID:25326637 PMID:25741868 More... NCBI chr23:48,691,361...48,761,664
Ensembl chr23:48,677,622...48,761,596 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    syndrome 9994
      infantile liver failure syndrome 5
        infantile liver failure syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14910
      gastrointestinal system disease 6375
        hepatobiliary disease 2760
          liver disease 2657
            Hepatic Insufficiency 145
              Liver Failure 137
                Acute Liver Failure 90
                  infantile liver failure syndrome 5
                    infantile liver failure syndrome 1 1
paths to the root