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thyroid dyshormonogenesis 2A

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase.
Uniprot Description A disorder due to defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete.
Mondo Term and Equivalent IDs
MONDO:0010133:  thyroid dyshormonogenesis 2A
MESH:C563206: 
NCIT:C121750: 
SCTID:124204003: 
UMLS:C1291299: