Rare Disease Library

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Estrogen resistance syndrome

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Jervell and Lange-Nielsen syndrome

Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

OBSOLETE: Peripheral resistance to thyroid hormones

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

Pituitary resistance to thyroid hormone

PRTH · Selective pituitary resistance to thyroid hormone

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

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss syndrome

Syndrome of reduced sensitivity to thyroid hormone

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH