Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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: OMIM:615438
 xref: GARD:13114


show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22607940 PMID:25051973 PMID:25326635 PMID:25741868 PMID:26467025 More... NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      infantile liver failure syndrome 5
        infantile liver failure syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      gastrointestinal system disease 7095
        hepatobiliary disease 3069
          liver disease 2958
            Hepatic Insufficiency 161
              Liver Failure 153
                Acute Liver Failure 102
                  infantile liver failure syndrome 5
                    infantile liver failure syndrome 1 1
paths to the root