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"

96 matching diseasesClear search ×

Rare genetic intellectual disability

ORPHA:183757

Rare genetic macular disorder

ORPHA:522574

Rare genetic medullar disease

ORPHA:183515

Rare genetic movement disorder

ORPHA:183521

Rare genetic myoclonus

ORPHA:307064

Rare genetic neurological disorder

ORPHA:71859

Rare genetic nevus

ORPHA:622914

Rare genetic odontal or periodontal disorder

ORPHA:420755

Rare genetic odontologic disease

ORPHA:77830

Rare genetic optic nerve disorder

ORPHA:522512

Rare genetic palpebral disorder

ORPHA:522526

Rare genetic parkinsonian disorder

Rare genetic hypokinetic movement disorder

ORPHA:307052

Rare genetic renal disease

ORPHA:98056

Rare genetic respiratory disease

ORPHA:156610

Rare genetic retinal disorder

ORPHA:522572

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic systemic or rheumatologic disease

ORPHA:271870

Rare genetic thyroid disease

ORPHA:183631

Rare genetic tremor disorder

ORPHA:307061

Rare genetic tumor

ORPHA:68336

Rare genetic urogenital disease

ORPHA:156619

Rare genetic vascular disease

ORPHA:233655

Rare genetic vascular tumor

ORPHA:459543

Rare hematologic disease

ORPHA:97992

Rare hepatic disease

ORPHA:57146

Rare immune disease

ORPHA:98004

Rare inborn errors of metabolism

Rare metabolic disease

ORPHA:68367

Rare infectious disease

ORPHA:68416

Rare intestinal disease

ORPHA:117569

Rare lens disease

ORPHA:98639

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Rare neurodegenerative disease

ORPHA:182070

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Rare odontologic disease

ORPHA:98026

Rare pancreatic disease

ORPHA:101937

Rare parasitic disease

ORPHA:163588

Rare pulmonary disease

ORPHA:101944

Rare renal disease

ORPHA:93626

Rare respiratory disease

ORPHA:97955

Rare rheumatologic disease

ORPHA:182231

Rare skin disease

ORPHA:89826

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

ORPHA:90642

Rare systemic disease

ORPHA:182222

Rare teratologic disease

Acquired embryofetopathy

ORPHA:52662

Rare thyroid disease

ORPHA:101955

Rare urogenital disease

ORPHA:101433

Rare vascular disease

ORPHA:68362

Rare viral disease

ORPHA:163585