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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;   IMD90;   INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS;   immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction
 primary_id: OMIM:613759
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: FADD DEFICIENCY | ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations OMIM
ClinVar		 PMID:21109225 PMID:25326637 PMID:25794656 PMID:28492532 PMID:32350755 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      endocrine system disease 6220
        liver disease 2592
          Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Cardiovascular Abnormalities 1202
            Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations 1
paths to the root