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 ×

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Prieto-Badia-Mulas syndrome

ORPHA:2958

Biliary atresia with splenic malformation syndrome

BASM syndrome

ORPHA:244283

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

ORPHA:3042

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

ORPHA:2724