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"

9 matching diseasesClear search ×

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

ORPHA:2795

Chandler syndrome

ORPHA:98979

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

ORPHA:46627

Christianson syndrome

X-linked Angelman-like syndrome

ORPHA:85278

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

ORPHA:566175

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

ORPHA:307766

Hidrotic ectodermal dysplasia, Christianson-Fourie type

Christianson-Fourie syndrome

ORPHA:1808

Hypertelorism-microtia-facial clefting syndrome

Bixler-Christian-Gorlin syndrome · HMC syndrome

ORPHA:2213

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome

ORPHA:1436