Rare Disease Library

TFR2-related hemochromatosis

Hereditary hemochromatosis type 3

AGel amyloidosis

Familial amyloid polyneuropathy type IV · Familial amyloidosis, Finnish type

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Dehydrated hereditary stomatocytosis

Hereditary xerocytosis

Digenic hemochromatosis

Dyschromatosis symmetrica hereditaria

Acropigmentation of Dohi

Dyschromatosis universalis hereditaria

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

Hereditary angioedema type 1

HAE · HAE 1

Hereditary angioedema type 2

HAE · HAE 2

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

Hereditary gingival fibromatosis

Autosomal dominant gingival fibromatosis · Autosomal dominant gingival hyperplasia

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Hereditary spherocytosis

Minkowski-Chauffard disease

HJV or HAMP-related hemochromatosis

Juvenile hemochromatosis · Hemochromatosis type 2

Milroy disease

Hereditary lymphedema type I · Nonne-Milroy lymphedema

Neonatal hemochromatosis

OBSOLETE: Hemochromatosis type 4

OBSOLETE: Ferroportin disease · OBSOLETE: Hemochromatosis due to defect in ferroportin

OBSOLETE: Hemochromatosis type 5

Rare hereditary hemochromatosis

Iron overload disease

Southeast Asian ovalocytosis

Hereditary ovalocytosis · Melanesian elliptocytosis

Symptomatic form of HFE-related hemochromatosis

Symptomatic form of classic hemochromatosis · Symptomatic form of hemochromatosis type 1