User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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CIDEC-Related Familial Partial Lipodystrophy
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CIDEC-related familial partial lipodystrophy is a very rare inherited disease where body fat is not spread in a normal way. In this condition, fat under the ...

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Chyloperitoneum (Chylous Ascites)
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Chyloperitoneum means that lymph fluid called chyle leaks into the space inside the belly (the peritoneal cavity). This chyle is milky and rich in fat ...

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Chylous Ascites
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Chylous ascites is a rare type of fluid build-up in the belly (abdomen). In this condition, a milky fluid called chyle leaks into the space around the ...

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Anderson Syndrome
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“Anderson syndrome” in most modern medical books means Andersen–Tawil syndrome, a very rare genetic disease that affects the heart rhythm, the muscles, and the ...

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Anderson disease
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Anderson disease is another name for chylomicron retention disease (CMRD), a very rare, inherited problem where the small intestine cannot properly release fat ...

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Chylomicron Retention Disease
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Chylomicron retention disease is a very rare inherited disease where the small intestine cannot release fat particles (called chylomicrons) into the blood ...

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Von Hippel-Lindau-Dependent Polycythemia
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Von Hippel-Lindau-dependent polycythemia is a very rare blood disease where the body makes too many red blood cells because of a change (mutation) in the VHL ...

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Familial Polycythemia Caused by Mutation in the VHL Gene
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Familial polycythemia caused by mutation in the VHL gene is a rare genetic blood disease where a person is born with too many red blood cells because their ...

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Chuvash Erythrocytosis
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Chuvash erythrocytosis is a rare, inherited blood disease where the body makes too many red blood cells from birth and throughout life. It is caused by a ...

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Autosomal Recessive Benign Erythrocytosis
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Autosomal recessive benign erythrocytosis is a rare inherited blood disease. It means the body makes too many red blood cells from birth or early life. ...

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Chuvash Polycythemia
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Chuvash polycythemia is a rare blood disease that you are born with. In this condition, the body makes too many red blood cells even when oxygen levels are ...

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Chudley-McCullough Syndrome
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Chudley-McCullough syndrome (often shortened to CMS or CMCS) is a very rare genetic condition. It mainly causes strong hearing loss in both ears and special ...

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Chronic Thromboembolic Pulmonary Hypertension (CTEPH)
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Chronic thromboembolic pulmonary hypertension (CTEPH) is a long-term form of high blood pressure in the lung arteries that develops when old blood clots do not ...

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Chronic Respiratory Distress with Surfactant Metabolism Deficiency
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Chronic respiratory distress with surfactant metabolism deficiency is a rare lung disease that mainly affects babies and children. In this disease, the lungs ...

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Chronic Neutrophilic Leukemia
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Chronic neutrophilic leukemia is a very rare blood cancer. It starts from the bone marrow, where blood cells are made. In this disease, the body makes too many ...

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Chronic Myelomonocytic Leukemia
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Chronic myelomonocytic leukemia, often called CMML, is a rare blood cancer that starts in the bone marrow, the soft center of the bones where new blood cells ...

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Chronic Myelomonocytic Leukemia (CMML)
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Chronic myelomonocytic leukemia (CMML) is a rare type of blood cancer. It starts in the bone marrow, which is the soft inner part of the bones where new blood ...

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Leukemia Philadelphia Chromosome-Positive Resistant to Imatinib, Somatic Mutation
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Leukemia Philadelphia chromosome–positive (often written “Ph-positive” or “Ph+”) means a blood cancer where the leukemia cells carry a special broken ...

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Hematopoietic Chronic Myelocytic Leukemia
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Hematopoietic chronic myelocytic leukemia is another way to describe chronic myeloid (myelogenous) leukemia, often shortened to CML. “Hematopoietic” means it ...

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Familial Chronic Myelocytic Leukemia (Familial CML)
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Familial chronic myelocytic leukemia (familial CML) is a blood cancer that starts in the bone marrow, the soft center of the bones where blood cells are made. ...

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