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"

57 matching diseasesClear search ×

OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain

ORPHA:206610

OBSOLETE: Chronic pain requiring intraspinal analgesia

ORPHA:95426

OBSOLETE: Other muscle weakness and/or chronic muscle pain

ORPHA:206606

Paroxysmal extreme pain disorder

Familial rectal pain

ORPHA:46348

Persistent idiopathic facial pain

AFP · Atypical facial pain

ORPHA:398147

Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome

ORPHA:457212

Qualitative or quantitative defects of calpain

ORPHA:207104

Secondary hypoparathyroidism due to impaired parathormon secretion

ORPHA:140286

X-linked intellectual disability, Pai type

ORPHA:85322