User Posts: Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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Chronic Enteropathy Associated with SLCO2A1 Gene (CEAS)
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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, ...

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CBL-Mutated Juvenile Myelomonocytic Leukemia
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CBL-mutated juvenile myelomonocytic leukemia is a rare blood cancer that happens in babies and young children when the CBL gene is damaged (mutated) in their ...

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NF1-Associated Juvenile Myelomonocytic Leukemia (NF1-JMML)
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NF1-associated juvenile myelomonocytic leukemia (NF1-JMML) is a rare blood cancer that happens in young children who already have neurofibromatosis type 1 ...

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KRAS-Mutated Juvenile Myelomonocytic Leukemia (JMML)
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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 ...

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NRAS-Mutated Juvenile Myelomonocytic Leukemia (JMML)
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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 ...

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PTPN11-Mutated Juvenile Myelomonocytic Leukemia (JMML)
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PTPN11-mutated juvenile myelomonocytic leukemia (JMML) is a rare blood cancer of early childhood in which young bone-marrow cells that normally form white ...

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Juvenile Myelomonocytic Leukemia (JMML)
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Juvenile myelomonocytic leukemia (JMML) is a rare blood cancer that happens almost only in babies and very young children, usually under 4 years old. It starts ...

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Chronic Diarrhea with Villous Atrophy
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Chronic diarrhea with villous atrophy means a person has loose or watery stools that last for more than four weeks, and a biopsy from the small intestine shows ...

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Maltase-Glucoamylase Deficiency
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Maltase-glucoamylase deficiency is a rare problem in the small intestine where the body cannot properly break down starch (long chains of glucose) into single ...

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Chronic Diarrhea due to Glucoamylase Deficiency
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Chronic diarrhea due to glucoamylase deficiency is a rare gut disease where the small intestine does not have enough of the enzyme glucoamylase (also called ...

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Kernicterus Spectrum Disorder
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Kernicterus spectrum disorder is part of a group of problems caused by very high levels of bilirubin hurting a baby’s brain. Doctors and researchers use ...

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Bilirubin-Induced Neurological Dysfunction (BIND)
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Bilirubin-induced neurological dysfunction (BIND) is brain damage that happens when a baby has very high levels of a yellow substance in the blood called ...

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Chronic Bilirubin Encephalopathy
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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 ...

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Chronic Beryllium Lung Disease
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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 ...

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Chronic Beryllium Poisoning
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Chronic beryllium poisoning, usually called chronic beryllium disease (CBD) or berylliosis, is a long-term lung disease caused by breathing in tiny particles ...

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Beryllium Granuloma
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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 ...

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Berylliosis
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Berylliosis is a long-term lung disease caused by breathing in a metal called beryllium at work or in the environment. In berylliosis, the immune system ...

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Chronic Beryllium Disease (CBD)
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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 ...

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Chronic Atrial Dysrhythmia–Intestinal Motility Disorder
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Chronic atrial dysrhythmia–intestinal motility disorder, also called chronic atrial and intestinal dysrhythmia (CAID), is a rare genetic disease that affects ...

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Chronic Atrial and Intestinal Dysrhythmia (CAID)
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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 ...

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