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"

7 matching diseasesClear search ×

Choroideremia

CHM · Tapetochoroidal dystrophy

ORPHA:180

Autosomal dominant rhegmatogenous retinal detachment

ORPHA:209867

Metaphyseal chondrodysplasia, Schmid type

MDSC · SMCD

ORPHA:174

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome

ORPHA:1250

OBSOLETE: Congenital blindness due to retinal non-attachment

ORPHA:300337

Shwachman-Diamond syndrome

Pancreatic insufficiency and bone marrow dysfunction · SDS

ORPHA:811

Spondylometaphyseal dysplasia, Schmidt type

Spondylometaphyseal dysplasia with severe genu valgum · Spondylometaphyseal dysplasia, Algerian type

ORPHA:93316