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Zimmermann-Laband syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene.
Uniprot Description A disorder characterized by gingival fibromatosis, dysplastic or absent nails, finger abnormalities, hepatosplenomegaly, and abnormalities of the cartilage of the nose and/or ears.
Mondo Term and Equivalent IDs
MONDO:0014646:  Zimmermann-Laband syndrome 2
UMLS:C4225321: