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Entry Name Description Category Pathway Gene
H00251 Thyroid dyshormonogenesis
Dyshormogenetic goiter
Thyroid dyshormonogenesis is a genetically heterogeneous group of inherited disorders in the enzymatic cascade of thyroid hormone synthesis that result in congenital hypothyroidism due to genetic defects ... Endocrine disease hsa00350 Tyrosine metabolism
hsa04918 Thyroid hormone synthesis
(Type 1) SLC5A5 [HSA:6528] [KO:K14385]
(Type 2A) TPO [HSA:7173] [KO:K00431]
(Type 2B) SLC26A4 [HSA:5172] [KO:K14702]
(Type 2B) FOXI1 [HSA:2299] [KO:K09401]
(Type 4) IYD [HSA:389434] [KO:K17231]
(Type 5) DUOXA2 [HSA:405753] [KO:K17232]
TG [HSA:7038] [KO:K10809]
(Type 6) DUOX2 [HSA:50506] [KO:K13411]
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