Rare Disease Library

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Erythema palmare hereditarium

Lane disease · Red palms disease

Giant cell arteritis

Horton disease · Temporal arteritis

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Histoplasmosis

Darling disease

Huntington disease

Huntington chorea

Huntington disease-like 1

Early-onset prion disease with prominent psychiatric features · HDL1

Huntington disease-like 2

HDL2

Huntington disease-like 3

HDL3

Huntington disease-like syndrome

Huntington disease phenocopy syndrome

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Juvenile Huntington disease

JHD · Juvenile Huntington chorea

Leber plus disease

LHON plus disease

Multiple sulfatase deficiency

MSD · Austin disease

Panner disease

Aseptic necrosis of the capital humerus · Osteochondrosis of the capital humerus

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

Psittacosis

Ornithosis · Parrot fever

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Rare parasitic disease

Upington disease

Hip dysplasia-enchondromata-ecchondroma syndrome

Wilson disease

Hepatolenticular degeneration