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"

12 matching diseasesClear search ×

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

ORPHA:168577

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

ORPHA:85448

Common hereditary elliptocytosis

ORPHA:98864

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

ORPHA:3202

Hereditary angioedema type 2

HAE · HAE 2

ORPHA:100051

Hereditary cryohydrocytosis with normal stomatin

ORPHA:398088

Hereditary elliptocytosis

HE

ORPHA:288

Hereditary pyropoikilocytosis

ORPHA:98867

Hereditary spherocytosis

Minkowski-Chauffard disease

ORPHA:822

Overhydrated hereditary stomatocytosis

ORPHA:3203

Southeast Asian ovalocytosis

Hereditary ovalocytosis · Melanesian elliptocytosis

ORPHA:98868

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3

ORPHA:225123