User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Long QT Syndrome Type 7 (LQT7)
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Long QT syndrome type 7 (LQT7) is a rare, inherited condition that affects the heart’s rhythm, the muscles, and body shape. Most people with LQT7 have three ...

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Long QT Syndrome
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Long QT syndrome is a heart rhythm problem where the heart’s electrical system takes too long to “reset” between beats. On an ECG, this looks like a prolonged ...

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Andersen Syndrome
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Andersen syndrome is a rare, inherited condition that mainly affects muscles and the heart. People typically have a “triad” of features: (1) brief attacks of ...

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Andersen Cardiodysrhythmic Periodic Paralysis
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Andersen cardiodysrhythmic periodic paralysis is a rare, inherited “channelopathy” that affects muscle and heart cells. People have episodes of flaccid limb ...

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Andersen–Tawil Syndrome (ATS)
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Andersen–Tawil syndrome is a rare genetic condition that affects muscles and the heart. People with ATS usually have three kinds of problems: 1) sudden ...

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Ancylostoma Infectious Disease
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Ancylostoma infectious disease, commonly called hookworm infection, happens when tiny parasitic worms reach the small intestine and drink blood from the gut ...

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Ancylostoma
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Ancylostoma is a group of hookworms—parasitic roundworms—that includes Ancylostoma duodenale (a human hookworm), A. ceylanicum (now recognized as infecting ...

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Ancylostomiasis (Hookworm Infection)
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Ancylostomiasis is the medical name for hookworm infection in humans. Tiny worm larvae living in contaminated soil can enter your body (usually through bare ...

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Spondylo-Meta-Epiphyseal Dysplasia (SMED)
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Spondylo-Meta-Epiphyseal Dysplasia (SMED) is a rare, inherited bone growth disorder. “Spondylo-” refers to the spine, “meta-” to the metaphyses (the flared ...

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Spondyloepimetaphyseal Dysplasia, Menger Type
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Spondyloepimetaphyseal dysplasia, Menger type is the name many registries use for anauxetic dysplasia (AD)—a very rare genetic bone growth disorder in which ...

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Spondyloepimetaphyseal Dysplasia Anauxetic Type
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Spondyloepimetaphyseal dysplasia, anauxetic type is a very rare, inherited bone-growth disorder. The main feature is extremely short stature that starts before ...

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Anauxetic Dysplasia Type 1
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Anauxetic dysplasia type 1 (ANXD1) is the most severe end of the cartilage-hair hypoplasia–anauxetic dysplasia (CHH-AD) spectrum, a group of skeletal ...

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Anauxetic Dysplasia
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Anauxetic dysplasia is a very rare genetic bone growth condition. It starts before birth and causes extreme short stature (dwarfism) with short limbs, joint ...

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Anaplastic Pleomorphic Xanthoastrocytoma (APXA)
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Anaplastic pleomorphic xanthoastrocytoma (APXA) is a rare brain tumor that starts from star-shaped support cells in the brain called astrocytes. “Pleomorphic” ...

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A WHO Grade III Oligodendroglial Tumor
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A WHO grade III oligodendroglial tumor is a fast-growing brain tumor that starts from oligodendrocytes, the cells that make the myelin (insulation) around ...

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WHO Grade III Oligodendroglial Neoplasm
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A WHO grade III oligodendroglial neoplasm is a malignant brain tumor that arises from oligodendrocyte-like glial cells. In today’s (WHO CNS5, 2021) system, it ...

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Anaplastic Oligodendroglioma
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Anaplastic oligodendroglioma is a grade 3 (faster-growing) brain tumor that starts from cells called oligodendrocytes, which help make the insulation (myelin) ...

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Oligodendroglioma
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Oligodendroglioma is a primary brain tumor that grows from glial cells called oligodendrocytes, which normally make myelin—the “insulation” around nerve ...

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WHO Grade III Mixed Glioma
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WHO grade III mixed glioma” is an older name used when a brain tumor looked like a mix of two cell types: astrocytes and oligodendrocytes. “Mixed” means both ...

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Anaplastic Mixed Glioma
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Anaplastic mixed glioma” (also called anaplastic oligoastrocytoma) was an older name for a fast-growing brain tumor that looked like a mix of two cell types ...

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