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Entry | Name | Description | Category | Pathway | Gene |
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H00250 | Congenital nongoitrous hypothyroidism (CHNG) | Congenital nongoitrous hypothyroidism (CHNG) is characterized as resistance to thyroid-stimulating hormone (TSH) causing increased levels of plasma TSH and low levels of thyroid hormone which is essential ... | Endocrine and metabolic disease |
(CHNG1) TSHR [HSA:7253] [KO:K04249] (CHNG2) PAX8 [HSA:7849] [KO:K09293] (CHNG4) TSHB [HSA:7252] [KO:K05251] (CHNG5) NKX2-5 [HSA:1482] [KO:K09345] (CHNG6) THRA [HSA:7067] [KO:K05547] (CHNG7) TRHR [HSA:7201] [KO:K04282] (CHNG8) TBL1X [HSA:6907] [KO:K04508] (CHNG9) IRS4 [HSA:8471] [KO:K17446] |
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H01269 | Congenital hyperthyroidism | ... transplacental passage of maternal thyroid-stimulating antibodies. Germline mutations of thyrotropin receptor (TSHR) gene determining a constitutive activation of the receptor were identified as a molecular cause ... | Endocrine and metabolic disease | TSHR [HSA:7253] [KO:K04249] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |