Rare Disease Library

Piebald trait-neurologic defects syndrome

Telfer-Sugar-Jaeger syndrome

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Jawad syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Orofaciodigital syndrome type 3

OFD3 · Oral-facial-digital syndrome type 3

Sugarman brachydactyly

Sugarman-Hager-Kulik syndrome

TEMPI syndrome

Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

Thrombocytopenia-absent radius syndrome

TAR syndrome

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS