Rx Blood, Metabolism, and Infectious Diseases (A – Z)
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Hereditary Hypophosphatemic Rickets (HHR)

Hereditary hypophosphatemic rickets (HHR) is a group of genetic disorders where the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Familial Hypocalcemia

Familial hypocalcemia is a rare, inherited condition where the body keeps blood calcium ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autosomal Dominant Aplastic Anemia and Myelodysplasia

Autosomal dominant aplastic anaemia and myelodysplasia describes a family of inherited ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Agammaglobulinemia Non-Bruton Type

Agammaglobulinemia, non-Bruton type (also called autosomal agammaglobulinemia) is a rare, ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Behçet-Like Disease Due to A20 Haploinsufficiency (HA20)

Behçet-like disease due to A20 haploinsufficiency (HA20) is a rare, inherited immune ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autoinflammatory Syndrome with Pyogenic Bacterial Infection and Amylopectinosis

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is a very ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Immune Thrombocytopenic Purpura (ITP)

Immune thrombocytopenic purpura (ITP) is an autoimmune blood disorder where the immune ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Idiopathic Thrombocytopenia

Idiopathic thrombocytopenia—now more accurately called Immune Thrombocytopenia (ITP)—is ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Caspase-8 Deficiency Syndrome

Caspase-8 Deficiency Syndrome—also called caspase-eight deficiency state (CEDS)—is a very ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Warm Autoimmune Hemolytic Anemia (wAIHA)

Warm autoimmune hemolytic anemia (wAIHA) is a disease where your immune system makes IgG ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

TRIANGLE Disease

TRIANGLE disease (the TPPII-related immunodeficiency with autoimmunity and ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Neurodevelopmental Delay with Impaired Glycolysis and Lysosomal Expansion Disease

Neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease is a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Autoimmune Thrombocytopenia–Primary Immunodeficiency Syndrome

Autoimmune thrombocytopenia–primary immunodeficiency syndrome means a person has very low ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Atypical Hypotonia-Cystinuria Syndrome

Atypical hypotonia-cystinuria syndrome is a very rare, inherited condition that combines ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Hemolytic Uremic Syndrome Without Diarrhea

Hemolytic-uremic syndrome without diarrhea—most often called atypical HUS (aHUS)—is a ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Atypical Hemolytic-Uremic Syndrome

Atypical hemolytic-uremic syndrome is a rare disease where the body’s complement system ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Hereditary ATTRV30M Amyloidosis

Hereditary ATTRV30M amyloidosis is a genetic disease in which a change (mutation) in the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

ATTRV30M Amyloidosis

ATTRV30M amyloidosis is a genetic disease. It happens when a change (variant) in the ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

ATTRV122I Amyloidosis

ATTRV122I amyloidosis is a genetic disease where a small change in the transthyretin ...
Rx Blood, Metabolism, and Infectious Diseases (A - Z)

Congenital Hypotransferrinemia

Congenital hypotransferrinemia is an ultra-rare inherited condition where the blood has ...
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