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 ×

Mucopolysaccharidosis type 10

Mucopolysaccharidosis type X · MSP type X

ORPHA:662216

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

ORPHA:391641

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

ORPHA:391646

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

GSD type 15 · GSD type XV

ORPHA:263297

Midline interhemispheric variant of holoprosencephaly

MIH · MIH type HPE

ORPHA:93926

Mixed cryoglobulinemia type II

MC type II

ORPHA:93554

Mixed cryoglobulinemia type III

MC type III

ORPHA:93555