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"

11 matching diseasesClear search ×

Monomelic amyotrophy

Benign focal amyotrophy · Hirayama disease

ORPHA:65684

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

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

ORPHA:53739

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

ORPHA:139518

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

ORPHA:139525

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

ORPHA:139536

Distal myopathy

Distal muscular dystrophy

ORPHA:599

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

ORPHA:139547

OBSOLETE: Distal spinal muscular atrophy

ORPHA:206713

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

ORPHA:83419

X-linked distal hereditary motor neuropathy

X-linked dHMN · X-linked distal spinal muscular atrophy

ORPHA:404538