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 ×

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

ORPHA:1538

Braddock syndrome

Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

ORPHA:52047

Braddock-Carey syndrome

Thrombocytopenia-Robin sequence syndrome

ORPHA:3323

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

ORPHA:1553

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

ORPHA:2027

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

ORPHA:2934

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Culler-Jones syndrome

ORPHA:420584

Thoracolaryngopelvic dysplasia

Barnes syndrome

ORPHA:3317