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familial thyroid dyshormonogenesis

Disease Summary
Associated Targets (6)
Tbio

4

Tclin

1

Tchem

1


Mondo Description Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.
Mondo Term and Equivalent IDs
MONDO:0010132:  familial thyroid dyshormonogenesis
MESH:C564766: 
NCIT:C121751: 
Orphanet:95716: 
SCTID:718183003: 
UMLS:C1848805: