User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Alveolococcosis
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Alveolococcosis is a parasitic disease. It happens when tiny larval forms of a tapeworm called Echinococcus multilocularis grow inside the human body. People ...

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Alveolar Echinococcosis
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Alveolar echinococcosis is a long-lasting infection caused by a tiny tapeworm called Echinococcus multilocularis. You get it by swallowing parasite eggs from ...

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Congenital Alveolar Capillary Dysplasia (ACD/MPV)
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Congenital alveolar capillary dysplasia, often shortened to ACD/MPV, is a rare lung problem that babies are born with. In ACD/MPV, the tiny air sacs in the ...

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Alveolar Capillary Dysplasia with Misalignment of Pulmonary Vessels
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Alveolar capillary dysplasia with misalignment of pulmonary vessels (often shortened to ACD/MPV) is a rare birth condition that affects how a baby’s lungs ...

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Alveolar Capillary Dysplasia (ACD/MPV)
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Alveolar capillary dysplasia (ACD) is a very rare birth condition that affects a baby’s lungs. In ACD, the tiny blood vessels (capillaries) that should sit ...

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Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV)
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Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, life-threatening lung development disorder that begins before birth. In ...

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Congenital Adrenal Gland Hypoplasia (AHC)
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Congenital adrenal gland hypoplasia means a baby is born with adrenal glands that did not grow or form normally during pregnancy. The adrenal glands sit above ...

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Adrenal Hypoplasia Congenita (AHC)
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Adrenal hypoplasia congenita (AHC) means a baby is born with adrenal glands that did not grow properly during pregnancy. The adrenal glands sit above the ...

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Alternating Hemiplegia of Childhood
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Alternating hemiplegia of childhood (AHC) is a rare brain disorder that starts in early life. A child has repeated attacks where one side of the body becomes ...

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Alström Syndrome
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Alström syndrome is a very rare genetic disease that affects many parts of the body over time. Babies and young children often develop eyesight problems very ...

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Alport Syndrome–Intellectual Disability–Midface Hypoplasia–Elliptocytosis (AMME) Syndrome
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This rare condition is a genetic syndrome that affects several parts of the body at the same time. People with this syndrome usually have signs of Alport ...

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Alport Deafness-Nephropathy
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Alport deafness-nephropathy is a genetic disease that affects tiny filter membranes in the kidney, the inner ear, and parts of the eye. These membranes are ...

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Acquired Alpha-thalassaemia in Myeloid Neoplasms
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Acquired alpha-thalassaemia in myeloid neoplasms means a person who has a disease of the bone marrow (a blood-forming cancer or pre-cancer) suddenly develops a ...

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Alpha-Thalassemia Myelodysplasia Syndrome
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Alpha-thalassemia myelodysplasia syndrome (often shortened to AT-MDS) is a rare blood disorder that happens in adults who already have a bone-marrow disease ...

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Acquired Haemoglobin H Disease
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Acquired haemoglobin H (HbH) disease is a rare, adult-onset form of alpha-thalassaemia that appears later in life rather than being inherited from birth. It ...

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