Rare Disease Library

Adult Refsum disease

Classic Refsum disease · HMSN 4

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Classic Hodgkin lymphoma

Classic Hodgkin disease

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

CLN10 disease

NCL10 · Neuronal ceroid lipofuscinosis type 10

CLN11 disease

Neuronal ceroid lipofuscinosis type 11 · NCL11

CLN12 disease

NCL12 · Neuronal ceroid lipofuscinosis type 12

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

CLN14 disease

Neuronal ceroid lipofuscinosis type 14 · NCL14

CLN2 disease

Neuronal ceroid lipofuscinosis type 2 · NCL2

CLN3 disease

Neuronal ceroid lipofuscinosis type 3

CLN4 disease

NCL4 · Neuronal ceroid lipofuscinosis type 4

CLN5 disease

Neuronal ceroid lipofuscinosis type 5 · NCL5

CLN6 disease

Neuronal ceroid lipofuscinosis type 6 · NCL6

CLN7 disease

Neuronal ceroid lipofuscinosis type 7 · NCL7

CLN8 disease

Neuronal ceroid lipofuscinosis type 8 · NCL8

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

Infantile Refsum disease

IRD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome