Disease #02231 (IPEX (immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)), OMIM:304790)

Official abbreviation IPEX
Name immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
OMIM ID 304790
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease -
Phenotype entries for this disease -
Associated with 1 gene FOXP3
Associated tissues -
Disease features an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhea due to enteropathy, type 1 diabetes mellitus, and dermatitis; other features may include hypothyroidism, autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatitis, nephritis
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)

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