Trusted information across 10,888 rare diseases — plain language, always cited, free for everyone.
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Showing 8,261-8,280 of 10,888 diseases
MONDO:0019257
Hemochromatosis type 2, also known as juvenile hemochromatosis, is the early-onset and most severe form of hereditary iron overload disease characteri...
MONDO:0011216
Hemochromatosis type 2A is a form of juvenile hemochromatosis that results from mutations in the HJV gene, leading to abnormal iron accumulation in th...
MONDO:0013220
Hemochromatosis type 2B is a severe form of iron overload disorder that primarily affects multiple organ systems including the liver and endocrine org...
MONDO:0011417
Hemochromatosis type 3 is a rare form of hereditary iron overload disorder characterized by excessive iron deposition in various tissues. It is caused...
MONDO:0011631
Hemochromatosis type 4 is a form of iron overload disorder characterized by excessive iron deposition in liver cells, leading to similar clinical feat...
MONDO:0014225
Hemochromatosis type 5 is a form of hereditary iron overload caused by mutations in the FTH1 gene, which plays a key role in iron storage and regulati...
MONDO:0016242
Hemoglobin C disease is a blood disorder classified as a hemoglobinopathy, where an abnormal variant of hemoglobin known as hemoglobin C is produced,...
MONDO:0016490
Hemoglobin C-beta-thalassemia syndrome is a blood disorder that falls within the spectrum of beta-thalassemia and is characterized by moderate hemolyt...
MONDO:0019537
MONDO:0016243
Hemoglobin E disease is a blood disorder characterized by the production of an abnormal form of hemoglobin known as hemoglobin E. It is classified as...
MONDO:0016491
Hemoglobin E-beta-thalassemia syndrome is a blood disorder that results from a combination of hemoglobin E and beta-thalassemia, presenting with a wid...
MONDO:0013512
Hemoglobin H disease is a form of alpha thalassemia in which three of the four copies of the alpha globin genes are affected. The condition is caused...
MONDO:0018022
Hemoglobin Lepore-beta-thalassemia syndrome is a blood disorder characterized by abnormal hemoglobin production that can lead to symptoms related to r...
MONDO:0018023
MONDO:0044348
Hemoglobinopathy refers to a group of conditions affecting hemoglobin, the protein responsible for carrying oxygen in red blood cells. Although the pr...
MONDO:0017238
MONDO:0003664
Hemolytic anemia is a condition characterized by the premature destruction of red blood cells, which disrupts normal oxygen delivery throughout the bo...
MONDO:0012967
Hemolytic anemia due to adenylate kinase deficiency is a rare blood disorder that affects the red blood cells. It is caused by a deficiency in the enz...
MONDO:0009113
Hemolytic anemia due to diphosphoglycerate mutase deficiency is a rare inherited disorder that affects red blood cell function and oxygen delivery. It...
MONDO:0020458
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