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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:Severe Congenital Liver Disease
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Accession:DOID:9005712 term browser browse the term
Definition:An autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Caused by homozygous or compound heterozygous mutation in the FOCAD gene on chromosome 9p21.
Synonyms:exact_synonym: FOCAD deficiency;   FOCAD-RELATED CONDITION;   SCOLIV
 primary_id: MIM:619991


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Severe Congenital Liver Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOCAD focadhesin ISO ClinVar Annotator: match by term: FOCAD-related condition | ClinVar Annotator: match by term: Liver disease, severe congenital OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr11:40,265,717...40,577,816
Ensembl chr11:40,265,640...40,577,591 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15698
    disease of anatomical entity 15287
      endocrine system disease 6108
        liver disease 2820
          Severe Congenital Liver Disease 1
Path 2
Term Annotations click to browse term
  disease 15698
    disease of anatomical entity 15287
      gastrointestinal system disease 6601
        hepatobiliary disease 2921
          liver disease 2820
            Severe Congenital Liver Disease 1
paths to the root