Chronic Septic Granulomatosis
Chronic septic granulomatosis is another name for chronic granulomatous disease (CGD), a rare inherited immune deficiency where some white blood cells (phagocytes) cannot properly kill certain ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Chronic Granulomatous Disease (CGD)
Chronic granulomatous disease (CGD) is a rare, lifelong problem of the immune system. In this disease, some white blood cells called phagocytes (mainly neutrophils and monocytes) cannot kill certain ...
Chronic Enteropathy Associated with Solute Carrier Organic Anion Transporter Family Member 2A1 Gene
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (usually shortened to “CEAS” or “chronic enteropathy associated with SLCO2A1”) is a rare inherited ...
Chronic Enteropathy Associated with SLCO2A1 Gene (CEAS)
Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare inherited bowel disease in which many long-lasting small ulcers form in the small intestine, especially in the ileum, and do not heal ...
KRAS-Mutated Juvenile Myelomonocytic Leukemia (JMML)
KRAS-mutated juvenile myelomonocytic leukemia (JMML) is a rare blood cancer that happens mostly in very young children, usually under 4 years of age. It starts in the bone marrow, where blood cells ...
NRAS-Mutated Juvenile Myelomonocytic Leukemia (JMML)
NRAS-mutated juvenile myelomonocytic leukemia (JMML) is a rare blood cancer that happens mostly in very young children, usually under 4 years of age. It starts in the bone marrow, which is the soft ...
Chronic Bilirubin Encephalopathy
Chronic bilirubin encephalopathy is a long-term brain injury that happens when very high levels of bilirubin (a yellow pigment from red blood cells) damage a baby’s brain. Bilirubin is usually ...
Chronic Beryllium Lung Disease
Chronic beryllium lung disease is a long-lasting lung illness that happens after breathing in very small particles of the metal beryllium at work or in the environment. In some people, the immune ...
Chronic Beryllium Poisoning
Chronic beryllium poisoning, usually called chronic beryllium disease (CBD) or berylliosis, is a long-term lung disease caused by breathing in tiny particles of the metal beryllium over time. The ...
Beryllium Granuloma
Beryllium granuloma is a small lump made of immune cells that forms when beryllium metal or its dust gets into the body and the immune system tries to “wall it off.” It most often happens in the skin ...
Chronic Beryllium Disease (CBD)
Chronic beryllium disease (CBD) is a long-term lung disease that happens when a person’s immune system reacts strongly to a metal called beryllium. Tiny beryllium particles are breathed into the ...
Chronic Atrial Dysrhythmia–Intestinal Motility Disorder
Chronic atrial dysrhythmia–intestinal motility disorder, also called chronic atrial and intestinal dysrhythmia (CAID), is a rare genetic disease that affects both the heart and the intestines at the ...
Chronic Atrial and Intestinal Dysrhythmia (CAID)
Chronic atrial and intestinal dysrhythmia (CAID) is a very rare genetic disease that affects both the heart and the intestines at the same time. In this condition the natural “pacemaker” of the heart ...
Int22h1/int22h2-Mediated Xq28 Recurrent Microduplication Syndrome
Int22h1/int22h2-mediated Xq28 recurrent microduplication syndrome is a rare genetic condition where a very small extra piece of the X chromosome is copied one more time than normal. This extra copy ...
Chromosome Xq28 Duplication Syndrome
Chromosome Xq28 duplication syndrome is a rare genetic condition. A small extra piece of the X chromosome is copied (duplicated) in a region called “q28.” This extra copy means some genes in that ...
Glycerol Kinase Deficiency-Contiguous Gene Syndrome
Glycerol kinase deficiency-contiguous gene syndrome is a very rare genetic disease that happens when a small piece of the X chromosome (area called Xp21) is missing, and this missing piece contains ...
Chromosome Xp21 Deletion Syndrome
Chromosome Xp21 deletion syndrome is a rare genetic condition. It happens when a small piece of the X chromosome (in the Xp21 area) is missing (deleted). Because that missing piece can contain more ...
X-Linked Dominant Xp11.23–p11.22 Duplication Syndrome
X-linked dominant Xp11.23–p11.22 duplication syndrome (also called Xp11.22–p11.23 duplication / microduplication syndrome) is a rare genetic condition where a copied-extra piece (duplication) on the ...
Chromosome Xp11.23–p11.22 Duplication Syndrome
Chromosome Xp11.23–p11.22 duplication syndrome is a rare genetic condition where a person has an extra copy (a duplication) of a small segment on the short arm (“p” arm) of the X chromosome, in the ...
Partial Deletion of the Short Arm of Chromosome 9
Partial deletion of the short arm of chromosome 9” means a person is missing a piece of DNA from the short arm (called “p”) of chromosome 9 in some or all body cells. Because genes are made from DNA ...
