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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: MIM:PS615438;   ORDO:370088


show annotations for term's descendants           Sort by:
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:27789416 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 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 Annotator: match by term: LARS1-related condition OMIM
ClinVar		 PMID:22607940 PMID:25051973 PMID:25326635 PMID:25741868 PMID:26467025 More... 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: Fever-associated acute infantile liver failure syndrome | ClinVar Annotator: match by term: Infantile liver failure syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 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 Efcab10 EF-hand calcium binding domain 10 ISO ClinVar Annotator: match by term: Infantile liver failure syndrome 3 ClinVar PMID:24033266 PMID:25050558 PMID:25741868 PMID:26787654 PMID:28492532 NCBI chr 6:50,004,479...50,011,398
Ensembl chr 6:50,004,479...50,011,398 		JBrowse link
G Rint1 RAD50 interactor 1 ISO ClinVar Annotator: match by term: Infantile liver failure syndrome 3 OMIM
ClinVar		 PMID:24033266 PMID:25050558 PMID:25741868 PMID:26787654 PMID:27544226 More... NCBI chr 4:11,319,416...11,355,740
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 19100
    syndrome 11271
      infantile liver failure syndrome 5
        Infantile Liver Failure Syndrome 2 1
        Infantile Liver Failure Syndrome 3 2
        infantile liver failure syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      gastrointestinal system disease 7176
        hepatobiliary disease 3116
          liver disease 3006
            Hepatic Insufficiency 161
              Liver Failure 153
                Acute Liver Failure 102
                  infantile liver failure syndrome 5
                    Infantile Liver Failure Syndrome 2 1
                    Infantile Liver Failure Syndrome 3 2
                    infantile liver failure syndrome 1 1
paths to the root