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"

54 matching diseasesClear search ×

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

Spinal muscular atrophy with respiratory distress type 2

Diaphragmatic spinal muscular atrophy type 2 · Kugelberg-Welander disease

ORPHA:404521

TNP03-related limb-girdle muscular dystrophy D2

LGMD1F · Autosomal dominant limb-girdle muscular dystrophy type 1F

ORPHA:55595

X-linked distal hereditary motor neuropathy

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

ORPHA:404538

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX

ORPHA:139557

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN

ORPHA:314485