Rare Disease Library

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Andersen-Tawil syndrome

Andersen syndrome · LQT7

ANE syndrome

Alopecia-progressive neurological defect-endocrinopathy syndrome

Complete androgen insensitivity syndrome

CAIS · Complete androgen resistance syndrome

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

Estrogen resistance syndrome

Generalized glucocorticoid resistance syndrome

Generalized resistance to thyroid hormone

Deafness-thyroid hormone resistance syndrome · Refetoff syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Insulin-resistance syndrome type A

Insulin-resistance syndrome type B

Loose anagen syndrome

Partial androgen insensitivity syndrome

PAIS · Partial androgen resistance syndrome

Rare insulin-resistance syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Resistance to thyrotropin-releasing hormone syndrome

Central hypothyroidism due to TRH receptor deficiency · TRH resistance syndrome

Rett syndrome

Reye syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Thiamine-responsive megaloblastic anemia syndrome

Rogers syndrome · TRMA

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome