User Posts: Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Bradykinin-Mediated Angioedema (Bk-AE)
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Bradykinin-induced angioedema is sudden, deep swelling of the skin or the lining of the mouth, throat, gut, or genitals that happens because the body has too ...

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Acquired Angioneurotic Edema
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Acquired angioneurotic edema (often shortened to acquired angioedema) is a rare condition where sudden, deep swelling happens in the skin, lips, tongue, ...

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Acquired Agranulocytosis
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Agranulocytosis means the number of neutrophils (the main germ-fighting white blood cells) in your blood becomes extremely low. Doctors usually define it as an ...

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Adult Onset Immunodeficiency with Anti Interferon Gamma Autoantibodies
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Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies is a rare condition that starts in adulthood. In this condition, the body makes ...

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Acquired Adult-Onset Immunodeficiency
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Acquired adult-onset immunodeficiency means a person who was healthy as a child now develops a weak immune system later in life. “Acquired” means it happens ...

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Vestibular Schwannoma
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A vestibular schwannoma is a slow-growing, non-cancerous (benign) tumor that starts from Schwann cells. These cells normally “wrap” the balance and hearing ...

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Neurinoma of The Acoustic Nerve
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A neurinoma of the acoustic nerve is a benign (non-cancerous) tumor that grows from the Schwann cells that wrap and protect the vestibular (balance) part of ...

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Acoustic Schwannoma
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An acoustic schwannoma is a benign (non-cancerous) tumor that grows from Schwann cells—the cells that wrap and protect the vestibular (balance) part of the ...

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Neurilemmoma (Schwannoma)
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A neurilemmoma, also called a schwannoma, is a benign (non-cancerous) tumor that grows from Schwann cells. Schwann cells wrap around nerves in the body and ...

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Types Of Acoustic Neuroma
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Acoustic neuroma is a benign (non-cancerous) nerve sheath tumor that grows from Schwann cells. Schwann cells are the support cells that wrap around nerves and ...

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Pyramidal Molar Glaucoma Upper Abnormal Lip Syndrome
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Pyramidal molar–glaucoma–upper abnormal lip syndrome is an ultra-rare, inherited condition that affects teeth, the eyes, and the upper lip. It is also called ...

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Ackerman Fused Molar Root Syndrome
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Ackerman fused molar root syndrome (often called Ackerman syndrome) is a very rare, inherited condition in which the back teeth (molars) develop unusual root ...

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Ackerman Syndrome
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Ackerman syndrome most commonly refers to an extremely rare, inherited developmental (congenital) condition that affects the teeth, lips/philtrum (the groove ...

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Achromatopsia Type 3
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Achromatopsia Type 3 is a rare eye condition that you are born with. It happens because of changes (mutations) in a gene called CNGB3. This gene tells the cone ...

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Achromatopsia Types 2
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Achromatopsia 2 (ACHM2) is a genetic eye condition that starts from birth. It mainly affects the cone cells in the retina, which are the light-sensing cells ...

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Pingelapese Blindness
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Pingelapese blindness is a rare, inherited eye condition. People with it see the world in shades of gray. They cannot see color. Bright light hurts their eyes ...

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Incomplete Color Blindness
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Incomplete color blindness means a person’s eyes and brain do not read color in the usual way. Colors may look faded, mixed up, or too similar. Most people ...

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Mitochondria
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Mitochondria it’s a big word for tiny structures found in almost every human cell. But, as researchers are learning, these capsule-shaped structures likely ...

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Chondrodystrophia
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Chondrodystrophia (often called chondrodystrophy) is not one single disease. It is a group of rare conditions where the cartilage in a growing child does not ...

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Achondroplasia
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Achondroplasia is a genetic bone growth condition. It mainly affects the long bones of the arms and legs. The word means “without cartilage growth,” but the ...

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