Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

14 matching diseasesClear search ×

Amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:803

Amyotrophic lateral sclerosis type 4

ALS · ALS4

ORPHA:357043

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:300605

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

ORPHA:206580

Frontotemporal dementia with motor neuron disease

FTD-ALS · FTD-MND

ORPHA:275872

Madras motor neuron disease

MMND

ORPHA:137867

Danon disease

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

ORPHA:34587

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

ORPHA:319254

Moyamoya disease

Idiopathic Moyamoya disease

ORPHA:2573

Mucopolysaccharidosis type 4

MPS4 · MPSIV

ORPHA:582

Neurometabolic disease

ORPHA:68385

Neuromuscular disease

ORPHA:68381

Neuronal ceroid lipofuscinosis

NCL · NCL disease

ORPHA:216

Rare neurologic disease

Rare nervous system disease

ORPHA:98006