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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 and metabolic disease |
(TDH1) SLC5A5 [HSA:6528] [KO:K14385] (TDH2A) TPO [HSA:7173] [KO:K00431] (TDH2B) SLC26A4 [HSA:5172] [KO:K14702] (TDH2B) FOXI1 [HSA:2299] [KO:K09401] (TDH3) TG [HSA:7038] [KO:K10809] (TDH4) IYD [HSA:389434] [KO:K17231] (TDH5) DUOXA2 [HSA:405753] [KO:K17232] (TDH6) DUOX2 [HSA:50506] [KO:K13411] |
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| H01237 | Sulfite oxidase deficiency | Sulfite oxidase deficiency is a rare inherited disease with severe neurological symptoms such as intractable neonatal or infantile seizures, hypotonia or hypertonia, feeding difficulties, profound developmental ... | Inherited metabolic disorder | (ISOD) SUOX [HSA:6821] [KO:K00387] | |
| H01449 |
Excoriation disorder Skin picking disorder |
... inhibitors (SSRIs) efficacy in this disease are not convincing, although some studies suggested that fluoxetine is effective. Tricyclic antidepressants, neuroleptics, and the dopamine-blocking opioid antagonist ... | Mental and behavioural disorder |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |