Rare Disease Library

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Estrogen resistance syndrome

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Insulin-resistance syndrome type A

Insulin-resistance syndrome type B

OBSOLETE: Peripheral resistance to thyroid hormones

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Pituitary resistance to thyroid hormone

PRTH · Selective pituitary resistance to thyroid hormone

Rare insulin-resistance syndrome

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

Resistance to thyroid hormone due to a mutation in TRa · RTHa

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

Resistance to thyroid hormone due to a mutation in TRb · Resistance to thyroid hormone beta

Resistance to thyrotropin-releasing hormone syndrome

Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Syndrome of reduced sensitivity to thyroid hormone