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"

4 matching diseasesClear search ×

Syndesmodysplasic dwarfism

Laplane-Fontaine-Lagardere syndrome

ORPHA:2654

Fontaine progeroid syndrome

ORPHA:697101

Fountain syndrome

Deafness-skeletal dysplasia-coarse face with full lips syndrome · Deafness-skeletal dysplasia-lip granuloma syndrome

ORPHA:3219

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

ORPHA:2439