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"

6 matching diseasesClear search ×

Lower motor neuron syndrome with late-adult onset

Spinal muscular atrophy, Jokela type · SMAJ

ORPHA:276435

Acute motor and sensory axonal neuropathy

AMSAN · Acute motor-sensory axonal GBS

ORPHA:98917

Acute motor axonal neuropathy

AMAN · Acute pure motor GBS

ORPHA:98918

Facial onset sensory and motor neuronopathy

FOSMN syndrome

ORPHA:85162

Multifocal motor neuropathy

MMN · MMNCB

ORPHA:641

Periodic paralysis with later-onset distal motor neuropathy

ORPHA:397750