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"

7 matching diseasesClear search ×

Hereditary mucoepithelial dysplasia

Urban-Schosser-Spohn syndrome

ORPHA:1839

Angora hair nevus

Schauder syndrome

ORPHA:370039

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

ORPHA:221145

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

ORPHA:1766

Familial cylindromatosis

Turban tumor syndrome

ORPHA:211

Glaucomatocyclitic crisis disease

Posner-Schlossman syndrome

ORPHA:636950

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome

ORPHA:3409