Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620233 http://purl.bioontology.org/ontology/OMIM/620233
Preferred Name	RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
Synonyms	RIFTD
Type	http://www.w3.org/2002/07/owl#Class

altLabel	RIFTD
prefLabel	RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
Gene Symbol	AG2 RIFTD AGR2
Scope Statement	Onset in neonatal period [MISCELLANEOUS] Caused by mutation in the anterior gradient 2, protein disulphide isomerase family member gene (AGR2, 606358.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU056014 http://purl.bioontology.org/ontology/OMIM/MTHU076924 http://purl.bioontology.org/ontology/OMIM/MTHU076925 http://purl.bioontology.org/ontology/OMIM/MTHU076928 http://purl.bioontology.org/ontology/OMIM/MTHU076927 http://purl.bioontology.org/ontology/OMIM/MTHU045694 http://purl.bioontology.org/ontology/OMIM/MTHU076926 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU004140 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU001507 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU076929 http://purl.bioontology.org/ontology/OMIM/MTHU076923 See more See less
tui	T047
Gene Locus	7p21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620233
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5774306
OMIM Entry Type	3
OMIM MimType Value	pound

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