Rare Disease Library

Hemolytic disease of the newborn with Kell alloimmunization

Anti-K HDN · Maternal anti-Kell alloimmunization

Hemolytic uremic syndrome

HUS

Hemolytic uremic syndrome with DGKE deficiency

HUS with DGKE deficiency

Hemophagocytic syndrome

HLH · Hemophagocytic lymphohistiocytosis

Hemophagocytic syndrome associated with an infection

IAHS · VAHS

Hemophilia

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

Hemophilia B

Congenital F9 deficiency · Christmas disease

Hemophilia B Leyden

Factor IX deficiency, Leyden type · F9 deficiency, Leyden type

Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

Hemorrhagic fever-renal syndrome

Hantavirosis · Hantavirus fever

Hendra virus infection

Hennekam syndrome

Lymphedema-lymphangiectasia-intellectual disability syndrome

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

Hepatic cutaneous porphyria

Hepatic cystic hamartoma

Biliary hamartoma · MHL

Hepatic fibrosis-renal cysts-intellectual disability syndrome

Thompson-Baraitser syndrome

Hepatic porphyria

Hepatic veno-occlusive disease

Sinusoidal obstruction syndrome

Hepatic veno-occlusive disease-immunodeficiency syndrome

VODI syndrome

Hepatitis B reinfection following liver transplantation

Hepatitis delta

HDV · Hepatitis D virus

Hepatoblastoma

Hepatocellular adenoma

Hepatocellular carcinoma

HCC · Hepatocellular carcinoma

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hepatoencephalopathy due to COXPD1

Hepatoerythropoietic porphyria

HEP

Hepatoportal sclerosis

Obliterative portal venopathy

Hepatosplenic T-cell lymphoma

Hereditary acrokeratotic poikiloderma

Weary syndrome

Hereditary amyloidosis

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

Hereditary angioedema

Familial angioneurotic edema · HAE

Hereditary angioedema type 1

HAE · HAE 1

Hereditary angioedema type 2

HAE · HAE 2

Hereditary angioedema with C1Inh deficiency

HAE · HAE with C1 inhibitor deficiency

Hereditary angioedema with normal C1Inh

HAE · HAE with normal C1 inhibitor

Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

HAE

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

Hereditary arterial and articular multiple calcification syndrome

CALJA · Calcification of joints and arteries

Hereditary ataxia

Hereditary atrial fibrillation

Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

Hereditary benign intraepithelial dyskeratosis

HBID · Hereditary benign corneal intraepithelial dyskeratosis

Hereditary breast and/or ovarian cancer syndrome

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

Hereditary bullous dystrophy, macular type