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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 Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO DNA:mutations:multiple RGD PMID:19732863 RGD:25440486 NCBI chr 7:126,756,140...126,772,749
Ensembl chr 7:126,756,151...126,772,749
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 chr18:36,524,013...36,579,471
Ensembl chr18:36,524,007...36,579,403
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:26578240, PMID:28492532, PMID:28576691, PMID:32313153 NCBI chr 6:38,474,773...38,777,146
Ensembl chr 6:38,474,804...38,777,806
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 OMIM
ClinVar
PMID:25050558, PMID:25741868, PMID:28492532, PMID:31204009 NCBI chr 4:7,851,602...7,885,446
Ensembl chr 4:7,852,224...7,885,301
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      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 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        hepatobiliary disease 2494
          liver disease 2402
            Hepatic Insufficiency 138
              Liver Failure 130
                Acute Liver Failure 79
                  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

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