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"

30 matching diseasesClear search ×

Genetic neuro-ophthalmological disease

ORPHA:183616

Genetic neurodegenerative disease

ORPHA:183500

Genetic neuromuscular disease

ORPHA:183497

Rare genetic adrenal disease

ORPHA:183637

Rare genetic bone disease

ORPHA:183524

Rare genetic cardiac disease

ORPHA:98054

Rare genetic disease

ORPHA:98053

Rare genetic endocrine disease

ORPHA:156638

Rare genetic eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Rare genetic gastroenterological disease

ORPHA:165652

Rare genetic gynecological and obstetrical diseases

ORPHA:183731

Rare genetic hematologic disease

ORPHA:158300

Rare genetic hepatic disease

ORPHA:156601

Rare genetic immune disease

ORPHA:183770

Rare genetic medullar disease

ORPHA:183515

Rare genetic neurological disorder

ORPHA:71859

Rare genetic nevus

ORPHA:622914

Rare genetic odontologic disease

ORPHA:77830

Rare genetic optic nerve disorder

ORPHA:522512

Rare genetic renal disease

ORPHA:98056

Rare genetic respiratory disease

ORPHA:156610

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic thyroid disease

ORPHA:183631

Rare genetic urogenital disease

ORPHA:156619

Rare genetic vascular disease

ORPHA:233655

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Rare neurodegenerative disease

ORPHA:182070

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Rare pediatric rheumatologic disease

ORPHA:486955

Rare pediatric systemic disease

ORPHA:280373