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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:infantile liver failure syndrome
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Accession:DOID:0080716 term browser browse the term
Definition:A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. (DO)
Synonyms:xref: OMIM:PS615438;   ORDO:370088
For additional species annotation, visit the Alliance of Genome Resources.


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infantile liver failure syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Infantile liver failure syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26073778 PMID:26541327 PMID:28492532 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 DNA:mutations:multiple RGD PMID:19732863 RGD:25440486 NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355
JBrowse link
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
OMIM
PMID:22607940 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931
JBrowse link
Infantile Liver Failure Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Infantile liver failure syndrome 2
ClinVar Annotator: match by term: Fever-associated acute infantile liver failure syndrome
ClinVar
OMIM
PMID:24033266 PMID:25741868 PMID:26073778 PMID:26286438 PMID:26541327 More... NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984
JBrowse link
Infantile Liver Failure Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: INFANTILE LIVER FAILURE SYNDROME 3
ClinVar Annotator: match by term: Infantile liver failure syndrome 3
OMIM
ClinVar
PMID:25050558 PMID:25741868 PMID:28166811 PMID:28492532 PMID:31204009 NCBI chr 4:11,319,416...11,355,773
Ensembl chr 4:11,320,955...11,355,736
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      infantile liver failure syndrome 4
        Infantile Liver Failure Syndrome 2 1
        Infantile Liver Failure Syndrome 3 1
        infantile liver failure syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      gastrointestinal system disease 6061
        hepatobiliary disease 2559
          liver disease 2462
            Hepatic Insufficiency 143
              Liver Failure 135
                Acute Liver Failure 85
                  infantile liver failure syndrome 4
                    Infantile Liver Failure Syndrome 2 1
                    Infantile Liver Failure Syndrome 3 1
                    infantile liver failure syndrome 1 1
paths to the root