Rare Disease Library

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Allan-Herndon-Dudley syndrome

AHDS · MCT8 deficiency

Infantile dystonia-parkinsonism

Dopamine transporter deficiency syndrome · IPD

Interstitial lung disease due to ABCA3 deficiency

Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Riboflavin transporter deficiency

Brown-Vialetto-van Laere syndrome

SLC35A1-CDG

CDG syndrome type IIf · CDG-IIf

Systemic primary carnitine deficiency

CDSP · CUD

X-linked creatine transporter deficiency

Creatine transporter deficiency · SLC6A8 deficiency