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Familial hyperthyroidism due to mutations in TSH receptor
rareFamilial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
- Identifiers
- MONDO:0012203 OMIM:609152Orphanet:424
- Causal genes
- TSHR
- Also known as
- familial non-immune hyperthyroidism · Nonautoimmune hyperthyroidism · resistance to thyroid stimulating hormone
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