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"

6 matching diseasesClear search ×

Variant ABeta2M amyloidosis

Autosomal dominant beta2-microglobulinic amyloidosis

ORPHA:314652

ABeta2M amyloidosis

Beta2-microglobulinic amyloidosis

ORPHA:439246

Autosomal dominant myoglobinuria

ORPHA:99846

Autosomal dominant primary microcephaly

ORPHA:2514

Unstable beta globin chain variant disease

Inclusion body beta-thalassemia · Autosomal dominant beta-thalassemia

ORPHA:231226

Wild type ABeta2M amyloidosis

ABeta2Mwt amyloidosis · Dialysis-related amyloidosis

ORPHA:85446