.
transient infantile liver failure - Ontology Report - Rat Genome Database

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 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
Advanced Search (OLGA)

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:transient infantile liver failure
go back to main search page
Accession:DOID:0080778 term browser browse the term
Definition:A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. (DO)
Synonyms:exact_synonym: LFIT
 narrow_synonym: transient recurrent infantile liver failure
 broad_synonym: TRMU-RELATED CONDITION
 primary_id: MIM:613070
 xref: GARD:10593;   ORDO:217371

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
transient infantile liver failure term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chrNW_004624774:5,609,623...5,673,815
Ensembl chrNW_004624774:5,609,623...5,673,791 		JBrowse link
G G LARS1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chr23:48,691,361...48,761,664
Ensembl chr23:48,677,622...48,761,596 		JBrowse link
G P LARS1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chr 2:147,480,132...147,554,197
Ensembl chr 2:147,477,370...147,554,047 		JBrowse link
G S Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chrNW_004936504:8,500,024...8,568,477
Ensembl chrNW_004936504:8,499,978...8,570,715 		JBrowse link
G D LARS1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chr 2:40,544,031...40,619,268
Ensembl chr 2:40,544,210...40,635,281 		JBrowse link
G B LARS1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chr 5:141,562,798...141,631,388
Ensembl chr 5:147,578,042...147,646,834 		JBrowse link
G C Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chrNW_004955415:7,923,292...7,983,757
Ensembl chrNW_004955415:7,923,059...7,983,757 		JBrowse link
G R Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chr18:34,452,567...34,507,030
Ensembl chr18:34,201,549...34,255,931 		JBrowse link
G M Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chr18:42,335,363...42,395,302
Ensembl chr18:42,335,363...42,395,259 		JBrowse link
G H LARS1 leucyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 More... NCBI chr 5:146,113,034...146,182,650
Ensembl chr 5:146,110,566...146,182,696 		JBrowse link
G H LOC129933155 ATAC-STARR-seq lymphoblastoid active region 15346 IAGP ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:26286438 PMID:26578240 PMID:28492532 NCBI chr 2:15,561,124...15,561,533 JBrowse link
G N Mmut methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chrNW_004624799:14,404,873...14,433,803
Ensembl chrNW_004624799:14,404,662...14,433,632 		JBrowse link
G G MMUT methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chr17:22,922,262...22,957,742
Ensembl chr17:22,922,307...22,957,879 		JBrowse link
G P MMUT methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chr 7:43,597,313...43,624,603
Ensembl chr 7:43,597,246...43,624,671 		JBrowse link
G S Mmut methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chrNW_004936476:11,208,251...11,241,648
Ensembl chrNW_004936476:11,208,267...11,241,648 		JBrowse link
G D MMUT methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chr12:17,306,074...17,339,921
Ensembl chr12:17,307,522...17,339,897 		JBrowse link
G B MMUT methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chr 6:49,007,500...49,040,470
Ensembl chr 6:50,269,644...50,302,593 		JBrowse link
G C Mmut methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chrNW_004955411:8,363,142...8,397,839
Ensembl chrNW_004955411:8,363,142...8,399,216 		JBrowse link
G R Mmut methylmalonyl-CoA mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chr 9:27,425,935...27,454,202
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G M Mmut methylmalonyl-Coenzyme A mutase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chr17:41,245,576...41,272,880
Ensembl chr17:41,245,576...41,272,879 		JBrowse link
G H MMUT methylmalonyl-CoA mutase IAGP ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25125334 PMID:25741868 PMID:27167370 PMID:28492532 PMID:34668645 More... NCBI chr 6:49,430,360...49,463,253
Ensembl chr 6:49,430,360...49,463,253 		JBrowse link
G N Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chrNW_004624865:937,495...1,208,663
Ensembl chrNW_004624865:961,587...1,212,950 		JBrowse link
G G NBAS NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chr14:92,045,416...92,475,079
Ensembl chr14:92,078,045...92,474,944 		JBrowse link
G P NBAS NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chr 3:121,882,734...122,242,325
Ensembl chr 3:121,882,744...122,242,326 		JBrowse link
G S Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chrNW_004936493:14,940,592...15,241,209
Ensembl chrNW_004936493:14,943,926...15,241,070 		JBrowse link
G D NBAS NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chr17:11,091,536...11,410,284
Ensembl chr17:11,091,543...11,430,839 		JBrowse link
G B NBAS NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chr2A:15,159,193...15,552,121
Ensembl chr2A:15,293,512...15,685,820 		JBrowse link
G C Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chrNW_004955487:8,894,403...9,073,535
Ensembl chrNW_004955487:8,894,187...9,073,663 		JBrowse link
G R Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		JBrowse link
G M Nbas neuroblastoma amplified sequence ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812 		JBrowse link
G H NBAS NBAS subunit of NRZ tethering complex IAGP ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 More... NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340 		JBrowse link
G N Otogl otogelin like ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chrNW_004624750:17,933,058...18,086,901
Ensembl chrNW_004624750:17,934,766...18,093,225 		JBrowse link
G G OTOGL otogelin like ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chr11:75,717,176...75,882,627
Ensembl chr11:75,729,405...75,881,334 		JBrowse link
G P OTOGL otogelin like ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chr 5:101,099,525...101,318,254
Ensembl chr 5:101,100,282...101,251,884 		JBrowse link
G S Otogl otogelin like ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chrNW_004936698:1,173,266...1,295,785
Ensembl chrNW_004936698:1,180,089...1,295,785 		JBrowse link
G D OTOGL otogelin like ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chr15:22,623,183...22,754,605
Ensembl chr15:22,556,295...22,753,956 		JBrowse link
G B OTOGL otogelin like ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chr12:77,630,854...77,894,894
Ensembl chr12:80,845,643...81,005,480 		JBrowse link
G C Otogl otogelin like ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chrNW_004955405:18,935,328...19,063,983
Ensembl chrNW_004955405:18,935,354...19,062,453 		JBrowse link
G R Otogl otogelin-like ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chr 7:44,952,633...45,097,869
Ensembl chr 7:43,067,644...43,223,592 		JBrowse link
G M Otogl otogelin-like ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chr10:107,596,391...107,748,240
Ensembl chr10:107,596,392...107,747,995 		JBrowse link
G H OTOGL otogelin like IAGP ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:19732863 PMID:21931168 PMID:25741868 PMID:26373788 PMID:30067075 More... NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880 		JBrowse link
G N Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chrNW_004624752:3,538,558...3,552,847
Ensembl chrNW_004624752:3,538,558...3,553,377 		JBrowse link
G G TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr19:28,816,293...28,838,259
Ensembl chr19:28,816,524...28,837,935 		JBrowse link
G P TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366 		JBrowse link
G S Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chrNW_004936629:3,570,163...3,589,324
Ensembl chrNW_004936629:3,567,999...3,589,371 		JBrowse link
G D TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr10:19,841,813...19,859,514
Ensembl chr10:19,841,854...19,859,470 		JBrowse link
G B TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... Ensembl chr22:45,399,506...45,421,439 JBrowse link
G C Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chrNW_004955413:30,440,014...30,453,860
Ensembl chrNW_004955413:30,440,282...30,453,860 		JBrowse link
G R Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr 7:118,849,586...118,866,190
Ensembl chr 7:116,969,756...116,986,355 		JBrowse link
G M Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr15:85,763,505...85,781,595
Ensembl chr15:85,763,513...85,781,595 		JBrowse link
G H TRMU tRNA mitochondrial 2-thiouridylase IAGP ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT
ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition		 ClinVar
OMIM		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal recessive disease 73856
                transient infantile liver failure 51
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      gastrointestinal system disease 79896
        hepatobiliary disease 31024
          liver disease 29238
            Hepatic Insufficiency 1520
              Liver Failure 1440
                Acute Liver Failure 955
                  transient infantile liver failure 51
paths to the root