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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:Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
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Accession:DOID:9003840 term browser browse the term
Synonyms:exact_synonym: FADD deficiency;   INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
 primary_id: OMIM:613759
 alt_id: RDO:9000473
For additional species annotation, visit the Alliance of Genome Resources.


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Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Infections, recurrent, associated with encephalopathy, hepatic dysfunction, and cardiovascular malformations
ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations
OMIM
ClinVar
PMID:21109225 PMID:28492532 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      endocrine system disease 5021
        liver disease 2421
          Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 1
Path 2
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8455
        Congenital Abnormalities 4755
          Cardiovascular Abnormalities 1116
            Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 1
paths to the root