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"

6 matching diseasesClear search ×

Intellectual disability-short stature-hypertelorism syndrome

Stoll-Géraudel-Chauvin syndrome

ORPHA:3074

Angora hair nevus

Schauder syndrome

ORPHA:370039

CHAND syndrome

Baughman syndrome · CHANDS

ORPHA:1401

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

ORPHA:46627

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

ORPHA:307766

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

ORPHA:2095