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acrodermatitis enteropathica

Disease Summary
Associated Targets (5)
Tbio

5


GARD Rare
Mondo Description Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
Uniprot Description A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders.
Disease Ontology Description A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency.
Mondo Term and Equivalent IDs
MONDO:0008713:  acrodermatitis enteropathica
GARD:0005723: 
GARD:0006343: 
MESH:C538178: 
NCIT:C128802: 
Orphanet:37: 
SCTID:37702000: 
UMLS:C0221036: