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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:transient infantile liver failure
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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: OMIM:613070
 xref: GARD:10593;   ORDO:217371


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transient infantile liver failure 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: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:25741868 PMID:28492532 PMID:32699352 PMID:33300650 NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931 		JBrowse link
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 chr 9:19,928,720...19,956,985
Ensembl chr 9:19,928,727...19,957,046 		JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:16199547 PMID:24033266 PMID:25741868 PMID:26073778 PMID:26286438 More... NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT | ClinVar Annotator: match by term: TRMU-related condition		 OMIM
CTD
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                transient infantile liver failure 4
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      gastrointestinal system disease 7094
        hepatobiliary disease 3068
          liver disease 2957
            Hepatic Insufficiency 161
              Liver Failure 153
                Acute Liver Failure 102
                  transient infantile liver failure 4
paths to the root