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"

7 matching diseasesClear search ×

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

ORPHA:139518

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

ORPHA:53739

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 hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

ORPHA:139589

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

ORPHA:139552

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

ORPHA:98920