MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Hemoglobin C disease

ORPHA:2132Disease
Autosomal recessive

Hemoglobin C-beta-thalassemia syndrome

ORPHA:231242Disease
Autosomal recessive

Hemoglobin D disease

ORPHA:90039Disease
Autosomal recessive

Hemoglobin E disease

ORPHA:2133Disease
Autosomal recessive

Hemoglobin E-beta-thalassemia syndrome

ORPHA:231249Disease
Autosomal recessive

Hemoglobin H disease

ORPHA:93616Disease
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia syndrome

ORPHA:330032Disease
Autosomal recessive

Hemoglobin M disease

ORPHA:330041Disease
Autosomal dominant

Hemolytic anemia due to adenylate kinase deficiency

ORPHA:86817Disease
Autosomal recessive

Hemolytic anemia due to diphosphoglycerate mutase deficiency

ORPHA:714Disease
Autosomal recessive

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction

ORPHA:99138Disease
Autosomal dominant

Hemolytic anemia due to glucophosphate isomerase deficiency

ORPHA:712Disease
Autosomal recessive

Hemolytic anemia due to glutathione reductase deficiency

ORPHA:90030Disease
Autosomal recessive

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

ORPHA:35120Disease
Autosomal recessive

Hemolytic anemia due to red cell pyruvate kinase deficiency

ORPHA:766Disease
Autosomal recessive

Hemolytic disease of the newborn with Kell alloimmunization

ORPHA:275944Disease

Hemolytic uremic syndrome with DGKE deficiency

ORPHA:357008Disease
Autosomal recessive, Not applicable

Hemophilia A

ORPHA:98878Disease
X-linked recessive

Hemophilia B

ORPHA:98879Disease
X-linked recessive

Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

ORPHA:178396Disease
Autosomal dominant, Not applicable

Hemorrhagic fever-renal syndrome

ORPHA:340Disease
Not applicable

Hendra virus infection

ORPHA:324632Disease

Hepatic veno-occlusive disease

ORPHA:890Disease
Not applicable

Hepatic veno-occlusive disease-immunodeficiency syndrome

ORPHA:79124Disease
Autosomal recessive