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"

155 matching diseasesClear search ×

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

ORPHA:251375

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

ORPHA:85414

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

ORPHA:31150

Tropical endomyocardial fibrosis

Davies disease · TEMF

ORPHA:75565

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

ORPHA:88950

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

ORPHA:892

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

ORPHA:898

Whipple disease

Intestinal lipodystrophy

ORPHA:3452

Wilson disease

Hepatolenticular degeneration

ORPHA:905

Wolman disease

ORPHA:75233

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

ORPHA:2442