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syndromic multisystem autoimmune disease due to ITCH deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut.
Mondo Term and Equivalent IDs
MONDO:0013245:  syndromic multisystem autoimmune disease due to ITCH deficiency
GARD:0010775: 
Orphanet:228426: 
UMLS:C3150649: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found