Disease - Autoimmune disease, multisystem, with facial dysmorphism
- DefinitionA disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut.
- AcronymADMFD
- Alternative names
- Cross references
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Browse 1 entry- E3 ubiquitin-protein ligase Itchy homolog · Gene: ITCH · Homo sapiens (Human) · EC:2.3.2.26 · 903 amino acids · Evidence at protein level · Annotation score: 5/5