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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 Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO ClinVar Annotator: match by OMIM:613070
ClinVar Annotator: match by term: LIVER FAILURE, INFANTILE, TRANSIENT
OMIM
ClinVar
PMID:8817331, PMID:19732863, PMID:21153446, PMID:21169334, PMID:21931168, PMID:23625533, PMID:25058219, PMID:25326635, PMID:25326637, PMID:25407320, PMID:25665837, PMID:25741868, PMID:28049726, PMID:28492532, PMID:28973083, PMID:30369941, PMID:30740308 NCBI chr 7:126,756,140...126,772,749
Ensembl chr 7:126,756,151...126,772,749
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                transient infantile liver failure 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      gastrointestinal system disease 4632
        hepatobiliary disease 0
          liver disease 2413
            Hepatic Insufficiency 139
              Liver Failure 131
                Acute Liver Failure 79
                  transient infantile liver failure 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.