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"

10 matching diseasesClear search ×

Midline interhemispheric variant of holoprosencephaly

MIH · MIH type HPE

ORPHA:93926

Autoimmune hepatitis type 1

AIH type 1

ORPHA:563576

Autoimmune hepatitis type 2

AIH type 2

ORPHA:563581

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

ORPHA:412

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

Hyperlipoproteinemia type 1

HLP type 1

ORPHA:411

Mixed cryoglobulinemia type II

MC type II

ORPHA:93554

Mucopolysaccharidosis type 10

Mucopolysaccharidosis type X · MSP type X

ORPHA:662216

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

ORPHA:394532