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"

200 matching diseasesClear search ×

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

ORPHA:1252

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

PXE-like syndrome · Pseudoxanthoma elasticum-like syndrome

ORPHA:91135

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

ORPHA:1276

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

ORPHA:664416

Brain arteriovenous malformation

Cerebral arteriovenous malformation

ORPHA:46724

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

ORPHA:75389

Bronchial malformation

ORPHA:649014

C12ORF65-related combined oxidative phosphorylation defect

C12ORF65-related COXPD

ORPHA:497623