Rare Disease Library

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

Tay-Sachs disease, adult form

GM2 gangliosidosis, Tay-Sachs variant, adult form · GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form

Tay-Sachs disease, infantile form

Beta-hexosaminidase subunit alpha deficiency, infantile form · GM2 gangliosidosis, Tay-Sachs variant, infantile form

Tay-Sachs disease, juvenile form

Beta-hexosaminidase subunit alpha deficiency, juvenile form · GM2 gangliosidosis, Tay-Sachs variant, juvenile form

Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome

NEDMABA disorder · Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies

Dermis disorder

Hartnup disease

Aminoaciduria, Hartnup type · Hartnup disorder

Human herpesvirus 8-related disorder

HHV-8-related disorder

Mixed dermis disorder

Nijmegen breakage syndrome-like disorder

Microcephaly and chromosomal instability without immunodeficiency · NBS-like disorder

Other dermis disorder

Platelet-activating anti-platelet factor 4 disorder

Anti-platelet factor 4 disorder · Anti-PF4 disorder

Rare hemorrhagic disorder

Rare bleeding disorder

Rare sleep disorder

Tricarboxylic acid cycle disorder

Citric acid cycle disorder · Krebs cycle disorder