Rare Disease Library

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adult CLN1 disease

Adult neuronal ceroid lipofuscinosis type 1 · Céroïde lipofuscinose neuronale adulte type 1

Adult CLN5 disease

Adult neuronal ceroid lipofuscinosis type 5

Adult CLN6 disease

Adult neuronal ceroid lipofuscinosis type 6

Adult Krabbe disease

Adult polyglucosan body disease

APBD

Adult Refsum disease

Classic Refsum disease · HMSN 4

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Hypophosphatasia

HPP · Phosphoethanolaminuria

Infantile hypophosphatasia

Infantile phosphoethanolaminuria · Infantile Rathbun disease

Neuroferritinopathy

Adult basal ganglia disease · Ferritin-related neurodegeneration

Non-amyloid monoclonal immunoglobulin deposition disease

Non-amyloid MIDD · Randall disease

OBSOLETE: Adult neuronal ceroid lipofuscinosis

OBSOLETE: ANCL · OBSOLETE: Adult NCL

Perinatal lethal hypophosphatasia

Perinatal lethal phosphoethanolaminuria · Perinatal lethal Rathbun disease

Prenatal benign hypophosphatasia

Prenatal benign phosphoethanolaminuria · Prenatal benign Rathbun disease

Rare adrenal disease

Sandhoff disease, adult form

GM2 gangliosidosis, Sandhoff variant, adult form · GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form

Tay-Sachs disease, adult form

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