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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:RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
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Accession:DOID:9005186 term browser browse the term
Definition:This disease is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis, these patients have normal sweat chloride and pancreatic elastase tests.
Synonyms:exact_synonym: RIFTD
 primary_id: OMIM:620233


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RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agr2 anterior gradient 2, protein disulphide isomerase family member ISO ClinVar Annotator: match by term: Respiratory infections, recurrent, and failure to thrive with or without diarrhea OMIM
ClinVar		 PMID:25741868 PMID:34952832 NCBI chr 6:52,708,602...52,729,378
Ensembl chr 6:52,708,602...52,729,371 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      gastrointestinal system disease 7051
        diarrhea 110
          RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA 1
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Digestive Signs and Symptoms 196
          diarrhea 110
            RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA 1
paths to the root