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athyreotic congenital hypothyroidism

Disease Summary
Associated Targets ()

Mondo Description Congenital hypothyroidism in which fetal deficiency was severe because of complete absence (athyreosis) of the gland. Physical features may include a larger anterior fontanel, persistence of a posterior fontanel, an umbilical hernia, and a large tongue (macroglossia)
Mondo Term and Equivalent IDs
MONDO:0022900:  athyreotic congenital hypothyroidism
GARD:0001610: