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Zimmermann-Laband syndrome 1

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Mondo Description Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 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:0024526:  Zimmermann-Laband syndrome 1
UMLS:CN032818: