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"

8 matching diseasesClear search ×

OBSOLETE: Preaxial polydactyly of toes

OBSOLETE: Bifid great toes · OBSOLETE: Preaxial polydactyly of foot

ORPHA:295006

OBSOLETE: Preaxial polydactyly of toes, bilateral

OBSOLETE: Bifid hallux, bilateral · OBSOLETE: Bifid halluces, bilateral

ORPHA:295177

OBSOLETE: Preaxial polydactyly of toes, unilateral

OBSOLETE: Bifid hallux, unilateral · OBSOLETE: Bifid halluces, unilateral

ORPHA:295175

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

ORPHA:169446

OBSOLETE: Benign exophthalmos syndrome

OBSOLETE: BES

ORPHA:71269

OBSOLETE: Bullous systemic lupus erythematosus

OBSOLETE: BSLE

ORPHA:46489

OBSOLETE: Common variable immunodeficiency

OBSOLETE: CVID

ORPHA:1572

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

ORPHA:140450