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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
 primary_id: OMIM:613070
 xref: GARD:10593;   ORDO:217371
For additional species annotation, visit the Alliance of Genome Resources.



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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 NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931
JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT ClinVar PMID:25741868 PMID:26073778 PMID:26541327 PMID:27789416 PMID:28031453 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 ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT OMIM
ClinVar
PMID:8817331 PMID:16199547 PMID:19732863 PMID:21153446 PMID:21169334 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 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          monogenic disease 8884
            autosomal genetic disease 7927
              autosomal recessive disease 4932
                transient infantile liver failure 3
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      gastrointestinal system disease 6630
        hepatobiliary disease 2779
          liver disease 2670
            Hepatic Insufficiency 159
              Liver Failure 151
                Acute Liver Failure 100
                  transient infantile liver failure 3
paths to the root